APC (APC regulator of WNT signaling pathway) - Rat Genome Database

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Gene: APC (APC regulator of WNT signaling pathway) Homo sapiens
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Symbol: APC
Name: APC regulator of WNT signaling pathway
RGD ID: 736624
HGNC Page HGNC:583
Description: Enables several functions, including beta-catenin binding activity; dynein complex binding activity; and enzyme binding activity. Involved in several processes, including insulin receptor signaling pathway; negative regulation of microtubule depolymerization; and positive regulation of protein localization to centrosome. Acts upstream of or within several processes, including positive regulation of protein catabolic process; positive regulation of pseudopodium assembly; and regulation of cell cycle process. Located in several cellular components, including lateral plasma membrane; microtubule cytoskeleton; and ruffle membrane. Part of beta-catenin destruction complex and catenin complex. Implicated in several diseases, including carcinoma (multiple); familial adenomatous polyposis 1; gastrointestinal system cancer (multiple); hereditary desmoid disease; and reproductive organ cancer (multiple). Biomarker of Alzheimer's disease and endometrial cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenomatosis polyposis coli; adenomatosis polyposis coli tumor suppressor; adenomatous polyposis coli; adenomatous polyposis coli (APC); adenomatous polyposis coli protein; APC, WNT signaling pathway regulator; BTPS2; deleted in polyposis 2.5; DESMD; DP2; DP2.5; DP3; GS; PPP1R46; protein phosphatase 1, regulatory subunit 46; truncated adenomatosis polyposis coli; WNT signaling pathway regulator
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: PROC (Gene ID: 5624) and APC (Gene ID: 324) loci share the APC symbol/alias in common. [08 Feb 2019]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385112,707,498 - 112,846,239 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5112,707,518 - 112,846,239 (+)EnsemblGRCh38hg38GRCh38
GRCh375112,043,195 - 112,181,936 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365112,101,483 - 112,209,835 (+)NCBINCBI36Build 36hg18NCBI36
Build 345112,101,482 - 112,209,834NCBI
Celera5107,988,802 - 108,127,503 (+)NCBICelera
Cytogenetic Map5q22.2NCBI
HuRef5107,222,330 - 107,361,030 (+)NCBIHuRef
CHM1_15111,476,576 - 111,615,241 (+)NCBICHM1_1
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Abdominal Fibromatosis  (EXP)
Aberrant Crypt Foci  (EXP)
acinar cell carcinoma  (IAGP)
adenocarcinoma  (EXP,IAGP)
adenoma  (EXP,IAGP)
Adenomatous Polyps  (EXP)
adult respiratory distress syndrome  (EXP)
Aggressive Fibromatosis  (EXP)
Alzheimer's disease  (IEP)
amenorrhea  (IAGP)
anemia  (ISO)
Animal Mammary Neoplasms  (EXP)
ascending colon cancer  (IAGP)
Attenuated Adenomatous Polyposis Coli  (IAGP)
Attenuated Familial Adenomatous Polyposis  (IAGP)
autism spectrum disorder  (EXP)
autistic disorder  (EXP)
breast cancer  (IAGP,ISS)
Breast Cancer, Familial  (IAGP)
breast carcinoma  (IAGP)
cholangiocarcinoma  (IAGP,IDA)
colon adenocarcinoma  (IAGP,ISO)
colon cancer  (IAGP,ISO)
colon carcinoma  (IAGP)
Colonic Neoplasms  (EXP,IAGP,ISO)
Colonic Polyps  (ISO)
colorectal adenoma  (IAGP)
colorectal cancer  (IAGP,ISS)
Colorectal Neoplasms  (EXP,IAGP,IEA,TAS)
craniopharyngioma  (IAGP)
desmoid tumor  (IAGP)
Digestive System Neoplasms  (IAGP)
disease of cellular proliferation  (IAGP)
duodenum adenocarcinoma  (IAGP)
endometrial cancer  (IAGP,IDA,IEP,ISO)
endometrial carcinoma  (IAGP,ISO)
Endometrial Intraepithelial Neoplasia  (IAGP)
Endometrial Neoplasms  (ISO)
Endometrioid Carcinomas  (IAGP,IEP)
Eye Abnormalities  (EXP)
familial adenomatous polyposis  (EXP,IAGP,IEA,ISO,ISS,TAS)
familial adenomatous polyposis 1  (IAGP)
familial hyperlipidemia  (EXP)
gallbladder cancer  (IAGP)
Gallbladder Neoplasms  (IDA)
Gardner Syndrome  (IAGP)
Gastric Adenocarcinoma and Proximal Polyposis of the Stomach  (IAGP)
Gastric Polyposis  (IAGP)
Gastrointestinal Hemorrhage  (EXP)
Gastrointestinal Neoplasms  (EXP)
gastrointestinal stromal tumor  (IAGP)
genetic disease  (IAGP)
glioblastoma  (EXP)
hepatoblastoma  (IAGP)
hepatocellular carcinoma  (EXP,IAGP,IDA,ISS)
hereditary desmoid disease  (EXP,IAGP)
Hereditary Neoplastic Syndromes  (IAGP)
Hyperplasia  (ISO)
inflammatory bowel disease  (EXP)
intellectual disability  (EXP)
Intestinal Neoplasms  (EXP,ISO)
Intestinal Polyps  (EXP)
intrahepatic cholangiocarcinoma  (IAGP)
Jaw Neoplasms  (ISO)
Klatskin's tumor  (IAGP)
Leukocytosis  (EXP)
Liver Neoplasms  (EXP,IAGP)
lung adenocarcinoma  (IAGP)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (EXP)
Lynch syndrome  (EXP)
macrocytic anemia  (EXP)
medulloblastoma  (EXP,IAGP)
Mesothelioma  (EXP)
mismatch repair cancer syndrome  (EXP)
Monoclonal B-Cell Lymphocytosis  (IAGP)
Neoplastic Cell Transformation  (EXP)
Neurodevelopmental Disorders  (IAGP)
ovarian cancer  (IAGP,ISS)
pancreatic cancer  (IAGP,ISO)
prostate cancer  (IGI,ISS)
Prostatic Neoplasms  (EXP)
rectal benign neoplasm  (EXP)
rectum adenocarcinoma  (IAGP)
renal cell carcinoma  (IAGP,ISO)
sigmoid colon cancer  (IAGP)
sigmoid neoplasm  (IAGP)
Splenomegaly  (EXP)
squamous cell carcinoma  (IAGP)
stomach cancer  (IAGP)
Stomach Neoplasms  (EXP,IAGP)
transitional cell carcinoma  (IAGP)
Weight Loss  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (ISO)
1,2-dimethylhydrazine  (ISO)
1,8-cineole  (EXP)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
8-Br-cAMP  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
bromobenzene  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
camptothecin  (EXP)
carmustine  (EXP)
celastrol  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clorgyline  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
coumarin  (EXP)
curcumin  (EXP)
cypermethrin  (ISO)
D-glucose  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
ethosuximide  (ISO)
etodolac  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
glucose  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
indometacin  (EXP,ISO)
irinotecan  (EXP)
lutein  (ISO)
malonaldehyde  (ISO)
manganese(II) chloride  (EXP)
metacetamol  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP)
miconazole  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
oxybenzone  (EXP)
ozone  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
Pyridostigmine bromide  (ISO)
quercetin  (EXP)
raloxifene  (ISO)
resorcinol  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (ISO)
sulindac  (ISO)
tamibarotene  (EXP)
temozolomide  (EXP)
theaflavin  (ISO)
thimerosal  (EXP)
tipifarnib  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
uranium atom  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acinar cell proliferation  (ISO)
anterior/posterior pattern specification  (ISO)
apoptotic process  (ISO)
axis specification  (ISO)
axonogenesis  (ISO)
bicellular tight junction assembly  (NAS)
canonical Wnt signaling pathway  (ISO)
canonical Wnt signaling pathway involved in negative regulation of apoptotic process  (ISO)
canonical Wnt signaling pathway involved in positive regulation of apoptotic process  (ISO)
cell adhesion  (ISO,NAS)
cell division  (ISO)
cell fate specification  (IBA,IEA)
cell migration  (IBA,IEA,IMP,ISO)
cell population proliferation  (ISO)
cellular response to nerve growth factor stimulus  (ISO)
chromosome organization  (ISO)
cytoplasmic microtubule organization  (ISO)
DNA damage response  (IDA)
dorsal/ventral pattern formation  (ISO)
endocardial cushion morphogenesis  (ISS)
endothelial cell proliferation  (ISO)
epithelial cell apoptotic process  (ISO)
epithelial cell proliferation  (ISO)
epithelial cell proliferation involved in prostate gland development  (ISO)
establishment or maintenance of cell polarity  (ISO)
fibroblast apoptotic process  (ISO)
fibroblast migration  (ISO)
hair follicle development  (ISO)
heart valve development  (ISS)
insulin receptor signaling pathway  (IMP)
kidney development  (ISO)
MAPK cascade  (ISO)
metaphase/anaphase transition of mitotic cell cycle  (ISO)
microtubule depolymerization  (ISO)
microtubule polymerization  (ISO)
mitotic cytokinesis  (IMP)
mitotic spindle assembly checkpoint signaling  (IMP)
muscle cell cellular homeostasis  (ISO)
negative regulation of acinar cell proliferation  (ISO)
negative regulation of apoptotic process  (ISO)
negative regulation of canonical Wnt signaling pathway  (IBA,IC,IEA,IGI,IMP,NAS)
negative regulation of cardiac muscle cell proliferation  (ISO)
negative regulation of cell cycle G1/S phase transition  (IDA)
negative regulation of cell population proliferation  (IDA,ISO)
negative regulation of endothelial cell proliferation  (ISO)
negative regulation of epithelial cell apoptotic process  (ISO)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of epithelial cell proliferation involved in prostate gland development  (ISO)
negative regulation of G1/S transition of mitotic cell cycle  (IMP)
negative regulation of MAPK cascade  (ISO)
negative regulation of microtubule depolymerization  (IBA,IDA,IEA,IMP)
negative regulation of odontogenesis  (ISO)
negative regulation of Wnt signaling pathway  (IEA,ISO)
nervous system development  (IBA,IEA)
neuron projection development  (ISO)
obsolete regulation of nitrogen compound metabolic process  (ISO)
odontogenesis  (ISO)
pancreas development  (ISO)
pattern specification process  (IBA,IEA,ISO)
positive regulation of apoptotic process  (IMP)
positive regulation of cell adhesion  (ISO)
positive regulation of cell differentiation  (ISO)
positive regulation of cell division  (ISO)
positive regulation of cell migration  (IMP)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of fibroblast apoptotic process  (ISO)
positive regulation of fibroblast migration  (ISO)
positive regulation of microtubule polymerization  (ISO)
positive regulation of protein catabolic process  (IC,IEA,IGI)
positive regulation of protein localization to centrosome  (IMP)
positive regulation of pseudopodium assembly  (IMP)
proteasome-mediated ubiquitin-dependent protein catabolic process  (NAS)
protein catabolic process  (ISO)
protein-containing complex assembly  (IDA)
proximal/distal pattern formation  (ISO)
regulation of attachment of spindle microtubules to kinetochore  (IMP,NAS)
regulation of cell cycle  (ISO)
regulation of cell differentiation  (IEA,ISO)
regulation of cell migration  (ISO)
regulation of epithelial cell differentiation  (ISO)
regulation of epithelial cell migration  (ISO)
regulation of glutamate metabolic process  (ISO)
regulation of microtubule-based movement  (IEP)
regulation of microtubule-based process  (IMP)
regulation of osteoblast differentiation  (ISO)
regulation of osteoclast differentiation  (ISO)
response to alcohol  (ISO)
response to xenobiotic stimulus  (ISO)
retina development in camera-type eye  (ISO)
skin development  (ISO)
somatic stem cell population maintenance  (ISO)
stem cell population maintenance  (ISO)
T cell differentiation in thymus  (ISO)
thymus development  (ISO)
Wnt signaling pathway  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormality of canine  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the abdominal wall  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the upper urinary tract  (IAGP)
Absent fingernail  (IAGP)
Absent toenail  (IAGP)
Adenocarcinoma of the colon  (IAGP)
Adenomatous colonic polyposis  (IAGP)
Adrenocortical adenoma  (IAGP)
Adrenocortical carcinoma  (IAGP)
Airway obstruction  (IAGP)
Alternating esotropia  (IAGP)
Ampulla of Vater carcinoma  (IAGP)
Arthralgia  (IAGP)
Astrocytoma  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Basal cell carcinoma  (IAGP)
Brain neoplasm  (IAGP)
Breast carcinoma  (IAGP)
Broad nasal tip  (IAGP)
Cafe-au-lait spot  (IAGP)
Carcinoma  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebellar medulloblastoma  (IAGP)
Chest pain  (IAGP)
Colon cancer  (IAGP)
Colorectal polyposis  (IAGP)
Congenital hypertrophy of retinal pigment epithelium  (IAGP)
Constipation  (IAGP)
Convex nasal ridge  (IAGP)
Craniopharyngioma  (IAGP)
Crossed fused renal ectopia  (IAGP)
Desmoid tumors  (IAGP)
Diarrhea  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duodenal adenocarcinoma  (IAGP)
Duodenal polyposis  (IAGP)
Dyslexia  (IAGP)
Early balding  (IAGP)
Ectropion  (IAGP)
Elbow dislocation  (IAGP)
Endometrial carcinoma  (IAGP)
Ependymoma  (IAGP)
Epidermoid cyst  (IAGP)
Epiretinal membrane  (IAGP)
Eruption failure  (IAGP)
Esophageal carcinoma  (IAGP)
Fibroadenoma of the breast  (IAGP)
Fibroma  (IAGP)
Fibrosarcoma  (IAGP)
Finger syndactyly  (IAGP)
Foot oligodactyly  (IAGP)
Frontal bossing  (IAGP)
Fundic gland polyposis  (IAGP)
Gastric adenocarcinoma  (IAGP)
Gastrointestinal carcinoma  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Generalized hypotonia  (IAGP)
Glioblastoma multiforme  (IAGP)
Glioma  (IAGP)
Headache  (IAGP)
Hearing impairment  (IAGP)
Hematochezia  (IAGP)
Hepatoblastoma  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip dislocation  (IAGP)
Hydronephrosis  (IAGP)
Hyperpigmentation of the fundus  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypothyroidism  (IAGP)
Increased intracranial pressure  (IAGP)
Increased level of L-fucose in urine  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intestinal bleeding  (IAGP)
Intestinal obstruction  (IAGP)
Intestinal polyposis  (IAGP)
Iron deficiency anemia  (IAGP)
Keloids  (IAGP)
Laryngomalacia  (IAGP)
Leukemia  (IAGP)
Limitation of joint mobility  (IAGP)
Lipoma  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphoma  (IAGP)
Malabsorption  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Medulloblastoma  (IAGP)
Melena  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Micronodular cirrhosis  (IAGP)
Middle age onset  (IAGP)
Multiple gastric polyps  (IAGP)
Multiple lipomas  (IAGP)
Multiple unerupted teeth  (IAGP)
Myalgia  (IAGP)
Narrow mouth  (IAGP)
Nausea  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the central nervous system  (IAGP)
Neoplasm of the colon  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the skin  (IAGP)
Neoplasm of the stomach  (IAGP)
Nystagmus  (IAGP)
Odontoma  (IAGP)
Oligodactyly  (IAGP)
Optic disc hypoplasia  (IAGP)
Osteolysis  (IAGP)
Osteoma  (IAGP)
Ovarian neoplasm  (IAGP)
Papillary thyroid carcinoma  (IAGP)
Papilledema  (IAGP)
Pilomatrixoma  (IAGP)
Pituitary adenoma  (IAGP)
Posterior polar cataract  (IAGP)
Primary amenorrhea  (IAGP)
Proptosis  (IAGP)
Prostate cancer  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Radioulnar synostosis  (IAGP)
Relative macrocephaly  (IAGP)
Renal cell carcinoma  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Scoliosis  (IAGP)
Sepsis  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Short thumb  (IAGP)
Single transverse palmar crease  (IAGP)
Small intestine carcinoid  (IAGP)
Soft tissue neoplasm  (IAGP)
Spastic gait  (IAGP)
Spinal cord compression  (IAGP)
Squamous cell carcinoma  (IAGP)
Stomach cancer  (IAGP)
Subacute progressive viral hepatitis  (IAGP)
Subcutaneous nodule  (IAGP)
Supernumerary tooth  (IAGP)
Synostosis of carpal bones  (IAGP)
Synostosis of joints  (IAGP)
Thick upper lip vermilion  (IAGP)
Thyroid carcinoma  (IAGP)
Thyroid nodule  (IAGP)
Toe syndactyly  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Typified by somatic mosaicism  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Visual acuity no light perception  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
Young adult onset  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent allelic loss on chromosome 11p and alterations in the APC/beta-catenin pathway. Abraham SC, etal., Am J Pathol. 2002 Mar;160(3):953-62.
2. A target-selected Apc-mutant rat kindred enhances the modeling of familial human colon cancer. Amos-Landgraf JM, etal., Proc Natl Acad Sci U S A. 2007 Mar 6;104(10):4036-41. Epub 2007 Feb 27.
3. Brain tumors in individuals with familial adenomatous polyposis: a cancer registry experience and pooled case report analysis. Attard TM, etal., Cancer. 2007 Feb 15;109(4):761-6.
4. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
5. Periampullary adenomas and adenocarcinomas in familial adenomatous polyposis: cumulative risks and APC gene mutations. Bjork J, etal., Gastroenterology. 2001 Nov;121(5):1127-35.
6. Distinct DNA methylation epigenotypes in bladder cancer from different Chinese sub-populations and its implication in cancer detection using voided urine. Chen PC, etal., BMC Med Genomics. 2011 May 20;4:45. doi: 10.1186/1755-8794-4-45.
7. Interaction between murine germline mutations in p53 and APC predisposes to pancreatic neoplasia but not to increased intestinal malignancy. Clarke AR, etal., Oncogene. 1995 Nov 2;11(9):1913-20.
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PMID:30126976   PMID:30134915   PMID:30197296   PMID:30212390   PMID:30239619   PMID:30256815   PMID:30259713   PMID:30272267   PMID:30272823   PMID:30340471   PMID:30344098   PMID:30374053  
PMID:30376837   PMID:30414835   PMID:30420287   PMID:30474112   PMID:30511453   PMID:30569497   PMID:30659601   PMID:30720232   PMID:30762338   PMID:30808715   PMID:30852976   PMID:30868894  
PMID:30959051   PMID:31028424   PMID:31160382   PMID:31364752   PMID:31383941   PMID:31391772   PMID:31413325   PMID:31450893   PMID:31461190   PMID:31471457   PMID:31496624   PMID:31504825  
PMID:31519875   PMID:31527615   PMID:31540078   PMID:31547110   PMID:31586073   PMID:31591141   PMID:31612394   PMID:31686521   PMID:31704613   PMID:31723073   PMID:31759252   PMID:31881079  
PMID:31892851   PMID:31894264   PMID:31900123   PMID:32003827   PMID:32005247   PMID:32024448   PMID:32037952   PMID:32076059   PMID:32087273   PMID:32091625   PMID:32102509   PMID:32129710  
PMID:32159210   PMID:32170310   PMID:32312003   PMID:32380568   PMID:32388397   PMID:32434960   PMID:32505560   PMID:32513696   PMID:32533114   PMID:32581014   PMID:32590455   PMID:32603656  
PMID:32633323   PMID:32701358   PMID:32702694   PMID:32707033   PMID:32730818   PMID:32743790   PMID:32750050   PMID:32754865   PMID:32895333   PMID:32965059   PMID:33007249   PMID:33060621  
PMID:33071283   PMID:33105836   PMID:33111431   PMID:33112876   PMID:33213169   PMID:33230782   PMID:33237836   PMID:33335067   PMID:33369461   PMID:33397691   PMID:33536335   PMID:33545068  
PMID:33545120   PMID:33603166   PMID:33664379   PMID:33670371   PMID:33670833   PMID:33683519   PMID:33766935   PMID:33769591   PMID:33788735   PMID:33858476   PMID:33961781   PMID:34011540  
PMID:34079125   PMID:34126796   PMID:34226595   PMID:34244565   PMID:34320348   PMID:34352208   PMID:34370741   PMID:34385594   PMID:34454113   PMID:34475049   PMID:34489457   PMID:34514550  
PMID:34545707   PMID:34672954   PMID:34676872   PMID:34702444   PMID:34709266   PMID:34852843   PMID:34857952   PMID:34911816   PMID:34956401   PMID:34964862   PMID:34978498   PMID:34986841  
PMID:35142982   PMID:35205366   PMID:35238777   PMID:35271311   PMID:35337019   PMID:35384245   PMID:35439318   PMID:35483122   PMID:35550340   PMID:35633533   PMID:35844135   PMID:35914814  
PMID:35973513   PMID:35988963   PMID:36172730   PMID:36181326   PMID:36215168   PMID:36232890   PMID:36270768   PMID:36288643   PMID:36445120   PMID:36543142   PMID:36588134   PMID:36779422  
PMID:36901686   PMID:36931259   PMID:37095033   PMID:37289229   PMID:37329532   PMID:37405864   PMID:37482523   PMID:37542411   PMID:37589277   PMID:37689310   PMID:37749864   PMID:37811860  
PMID:37827155   PMID:37853284   PMID:37968472   PMID:38043837   PMID:38142452   PMID:38216082   PMID:38279052   PMID:38324534  


Genomics

Comparative Map Data
APC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385112,707,498 - 112,846,239 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5112,707,518 - 112,846,239 (+)EnsemblGRCh38hg38GRCh38
GRCh375112,043,195 - 112,181,936 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365112,101,483 - 112,209,835 (+)NCBINCBI36Build 36hg18NCBI36
Build 345112,101,482 - 112,209,834NCBI
Celera5107,988,802 - 108,127,503 (+)NCBICelera
Cytogenetic Map5q22.2NCBI
HuRef5107,222,330 - 107,361,030 (+)NCBIHuRef
CHM1_15111,476,576 - 111,615,241 (+)NCBICHM1_1
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBIT2T-CHM13v2.0
Apc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391834,353,350 - 34,455,243 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1834,353,977 - 34,455,605 (+)EnsemblGRCm39 Ensembl
GRCm381834,220,297 - 34,322,190 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1834,220,924 - 34,322,552 (+)EnsemblGRCm38mm10GRCm38
MGSCv371834,380,638 - 34,481,844 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361834,385,824 - 34,443,409 (+)NCBIMGSCv36mm8
Celera1834,670,234 - 34,773,431 (+)NCBICelera
Cytogenetic Map18B1NCBI
cM Map1818.53NCBI
Apc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81826,138,382 - 26,196,021 (+)NCBIGRCr8
mRatBN7.21825,828,558 - 25,925,511 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1825,864,222 - 25,922,696 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1825,991,644 - 26,049,283 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01826,754,554 - 26,812,186 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01826,089,458 - 26,147,091 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01827,011,710 - 27,106,323 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1827,047,382 - 27,105,531 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01826,725,560 - 26,820,837 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41826,732,147 - 26,790,383 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11826,758,792 - 26,817,029 (+)NCBI
Celera1825,606,119 - 25,663,749 (+)NCBICelera
Cytogenetic Map18p12NCBI
Apc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554182,566,975 - 2,674,832 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554182,567,804 - 2,675,062 (-)NCBIChiLan1.0ChiLan1.0
APC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24107,966,719 - 108,104,333 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15106,120,377 - 106,257,991 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05108,070,697 - 108,208,273 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15113,873,993 - 114,009,709 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5113,904,352 - 114,009,709 (+)Ensemblpanpan1.1panPan2
APC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13252,052 - 380,506 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3253,081 - 322,993 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha31,652,296 - 1,781,970 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0393,843 - 224,101 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl394,206 - 190,576 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1386,997 - 217,003 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0386,045 - 214,151 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03249,524 - 377,618 (-)NCBIUU_Cfam_GSD_1.0
Apc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213154,592,489 - 154,711,938 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365316,899,788 - 7,019,453 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365316,899,580 - 7,019,016 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
APC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2116,812,582 - 117,034,887 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12116,913,354 - 116,985,303 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22121,515,522 - 121,573,844 (+)NCBISscrofa10.2Sscrofa10.2susScr3
APC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12315,992,437 - 16,135,117 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2316,042,287 - 16,137,067 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603462,320,613 - 62,469,122 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Apc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474330,546,323 - 30,635,737 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474330,517,034 - 30,635,740 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in APC
11675 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000038.6(APC):c.6883T>C (p.Ser2295Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564725] Chr5:112842477 [GRCh38]
Chr5:112178174 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4932T>G (p.Val1644=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742724]|Hereditary cancer-predisposing syndrome [RCV002257818] Chr5:112840526 [GRCh38]
Chr5:112176223 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1762G>A (p.Val588Ile) single nucleotide variant APC-related condition [RCV003403312]|Carcinoma of colon [RCV001356454]|Desmoid disease, hereditary [RCV000764562]|Familial adenomatous polyposis 1 [RCV000554226]|Familial adenomatous polyposis 1 [RCV002231842]|Hereditary cancer-predisposing syndrome [RCV000561260]|Ovarian cancer [RCV003153714]|not specified [RCV003493637] Chr5:112834969 [GRCh38]
Chr5:112170666 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5331A>G (p.Lys1777=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561276] Chr5:112840925 [GRCh38]
Chr5:112176622 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3162C>T (p.His1054=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003105966]|Hereditary cancer-predisposing syndrome [RCV000564845] Chr5:112838756 [GRCh38]
Chr5:112174453 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8129G>A (p.Ser2710Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651983]|Hereditary cancer-predisposing syndrome [RCV000566520] Chr5:112843723 [GRCh38]
Chr5:112179420 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-41G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742638] Chr5:112707677 [GRCh38]
Chr5:112043374 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1307del (p.Asn436fs) deletion Familial adenomatous polyposis 1 [RCV003335526]|Hereditary cancer-predisposing syndrome [RCV000566555] Chr5:112819335 [GRCh38]
Chr5:112155032 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5255A>T (p.Gln1752Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232188]|Hereditary cancer-predisposing syndrome [RCV000566560] Chr5:112840849 [GRCh38]
Chr5:112176546 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3164T>G (p.Ile1055Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767217]|Hereditary cancer-predisposing syndrome [RCV000566577] Chr5:112838758 [GRCh38]
Chr5:112174455 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2813C>G (p.Thr938Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526896]|Familial adenomatous polyposis 1 [RCV003537181]|Hereditary cancer-predisposing syndrome [RCV000563275]|not provided [RCV000985292] Chr5:112838407 [GRCh38]
Chr5:112174104 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2785C>T (p.His929Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537145]|Hereditary cancer-predisposing syndrome [RCV000563278]|not provided [RCV002284409]|not specified [RCV003320194] Chr5:112838379 [GRCh38]
Chr5:112174076 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2383C>T (p.Leu795Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564909] Chr5:112837977 [GRCh38]
Chr5:112173674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4997C>G (p.Pro1666Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232130]|Hereditary cancer-predisposing syndrome [RCV000564876] Chr5:112840591 [GRCh38]
Chr5:112176288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8239C>G (p.Pro2747Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767143]|Hereditary cancer-predisposing syndrome [RCV000567316] Chr5:112843833 [GRCh38]
Chr5:112179530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4704T>C (p.Asp1568=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652009]|Hereditary cancer-predisposing syndrome [RCV000567387]|not provided [RCV001579823]|not specified [RCV001280596] Chr5:112840298 [GRCh38]
Chr5:112175995 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4443T>C (p.Val1481=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744548]|Hereditary cancer-predisposing syndrome [RCV000563392]|not specified [RCV001193572] Chr5:112840037 [GRCh38]
Chr5:112175734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2612del (p.Gly871fs) deletion Carcinoma of colon [RCV001354472]|Hereditary cancer-predisposing syndrome [RCV000563431] Chr5:112838205 [GRCh38]
Chr5:112173902 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7616T>A (p.Leu2539His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537177]|Hereditary cancer-predisposing syndrome [RCV000563587] Chr5:112843210 [GRCh38]
Chr5:112178907 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.682A>G (p.Ile228Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000526364]|Familial adenomatous polyposis 1 [RCV003742771]|Hereditary cancer-predisposing syndrome [RCV000777181]|not provided [RCV003114671] Chr5:112792482 [GRCh38]
Chr5:112128179 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6847A>G (p.Ser2283Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744549]|Hereditary cancer-predisposing syndrome [RCV000567645]|not provided [RCV003478243] Chr5:112842441 [GRCh38]
Chr5:112178138 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4969C>G (p.Leu1657Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563612] Chr5:112840563 [GRCh38]
Chr5:112176260 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.280C>T (p.Arg94Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767136]|Hereditary cancer-predisposing syndrome [RCV000563719] Chr5:112767248 [GRCh38]
Chr5:112102945 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-157G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742652] Chr5:112707561 [GRCh38]
Chr5:112043258 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8008A>C (p.Arg2670=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537089]|Hereditary cancer-predisposing syndrome [RCV000574729]|not provided [RCV001726233]|not specified [RCV000589868] Chr5:112843602 [GRCh38]
Chr5:112179299 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1625A>C (p.Gln542Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566899] Chr5:112828005 [GRCh38]
Chr5:112163702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-121G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003651954] Chr5:112707597 [GRCh38]
Chr5:112043294 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.802G>T (p.Glu268Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527881]|Familial adenomatous polyposis 1 [RCV003742805]|Hereditary cancer-predisposing syndrome [RCV002413578] Chr5:112801351 [GRCh38]
Chr5:112137048 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2626C>A (p.Arg876=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742618]|Hereditary cancer-predisposing syndrome [RCV000561757] Chr5:112838220 [GRCh38]
Chr5:112173917 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2884G>A (p.Asp962Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563806] Chr5:112838478 [GRCh38]
Chr5:112174175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2991T>G (p.Tyr997Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742630] Chr5:112838585 [GRCh38]
Chr5:112174282 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2434G>C (p.Asp812His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530276]|Hereditary cancer-predisposing syndrome [RCV000561805]|not specified [RCV000780854] Chr5:112838028 [GRCh38]
Chr5:112173725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6866C>A (p.Thr2289Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742773]|Hereditary cancer-predisposing syndrome [RCV000573412] Chr5:112842460 [GRCh38]
Chr5:112178157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4668T>G (p.Thr1556=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767162]|Hereditary cancer-predisposing syndrome [RCV000565290] Chr5:112840262 [GRCh38]
Chr5:112175959 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7334A>G (p.Lys2445Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742783]|Hereditary cancer-predisposing syndrome [RCV000561931]|not provided [RCV001824341]|not specified [RCV001192947] Chr5:112842928 [GRCh38]
Chr5:112178625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-64T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003651953] Chr5:112707654 [GRCh38]
Chr5:112043351 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.423-?_531+?del (p.(?)) deletion Familial adenomatous polyposis 1 [RCV000210522]   pathogenic
NM_000038.6(APC):c.6394T>G (p.Ser2132Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565397] Chr5:112841988 [GRCh38]
Chr5:112177685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7779C>T (p.Asn2593=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742798]|Hereditary cancer-predisposing syndrome [RCV000777224] Chr5:112843373 [GRCh38]
Chr5:112179070 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2364G>A (p.Lys788=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562094] Chr5:112837958 [GRCh38]
Chr5:112173655 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4252A>G (p.Ile1418Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767030]|Hereditary cancer-predisposing syndrome [RCV001022147] Chr5:112839846 [GRCh38]
Chr5:112175543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7944A>T (p.Ala2648=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767045] Chr5:112843538 [GRCh38]
Chr5:112179235 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30590G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742666] Chr5:112707354 [GRCh38]
Chr5:112043051 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8138T>C (p.Met2713Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526686]|Hereditary cancer-predisposing syndrome [RCV002420480]|not specified [RCV000779731] Chr5:112843732 [GRCh38]
Chr5:112179429 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1188T>C (p.Asp396=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526852]|Hereditary cancer-predisposing syndrome [RCV000565529] Chr5:112819220 [GRCh38]
Chr5:112154917 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4924T>G (p.Tyr1642Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652010]|Hereditary cancer-predisposing syndrome [RCV000562288] Chr5:112840518 [GRCh38]
Chr5:112176215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-98G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002231895] Chr5:112707620 [GRCh38]
Chr5:112043317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30541G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742662] Chr5:112707403 [GRCh38]
Chr5:112043100 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7026A>T (p.Leu2342Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526319]|Hereditary cancer-predisposing syndrome [RCV000568988]|Neoplasm of stomach [RCV000677748]|not provided [RCV002307541] Chr5:112842620 [GRCh38]
Chr5:112178317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-131G>A single nucleotide variant APC-related condition [RCV003900201]|Familial adenomatous polyposis 1 [RCV003537049] Chr5:112707587 [GRCh38]
Chr5:112043284 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.3306C>G (p.Tyr1102Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337309]|Familial adenomatous polyposis 1 [RCV003742677]|Hereditary cancer-predisposing syndrome [RCV002456175] Chr5:112838900 [GRCh38]
Chr5:112174597 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-187G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003767020]|Hereditary cancer-predisposing syndrome [RCV001185228] Chr5:112707531 [GRCh38]
Chr5:112043228 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2499C>G (p.Ser833Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742609]|Hereditary cancer-predisposing syndrome [RCV003338657] Chr5:112838093 [GRCh38]
Chr5:112173790 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6162A>G (p.Ser2054=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651982]|Hereditary cancer-predisposing syndrome [RCV000562352]|not provided [RCV000759437]|not specified [RCV000610300] Chr5:112841756 [GRCh38]
Chr5:112177453 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.465del (p.Asp156fs) deletion Familial adenomatous polyposis 1 [RCV002529017]|Hereditary cancer-predisposing syndrome [RCV000562556] Chr5:112775667 [GRCh38]
Chr5:112111364 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2418T>A (p.His806Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767011]|Hereditary cancer-predisposing syndrome [RCV000568301] Chr5:112838012 [GRCh38]
Chr5:112173709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4847A>T (p.Lys1616Ile) single nucleotide variant Desmoid disease, hereditary [RCV000764564]|Familial adenomatous polyposis 1 [RCV003742720]|Hereditary cancer-predisposing syndrome [RCV000564351] Chr5:112840441 [GRCh38]
Chr5:112176138 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3749A>G (p.Lys1250Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742693]|Hereditary cancer-predisposing syndrome [RCV000570240] Chr5:112839343 [GRCh38]
Chr5:112175040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7516A>C (p.Lys2506Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537211]|Hereditary cancer-predisposing syndrome [RCV000564495] Chr5:112843110 [GRCh38]
Chr5:112178807 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5800C>T (p.Pro1934Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742746]|Hereditary cancer-predisposing syndrome [RCV001185484] Chr5:112841394 [GRCh38]
Chr5:112177091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7844T>C (p.Ile2615Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000528094]|Familial adenomatous polyposis 1 [RCV003742800]|Hereditary cancer-predisposing syndrome [RCV001026869]|not provided [RCV003478168] Chr5:112843438 [GRCh38]
Chr5:112179135 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5424C>A (p.Asn1808Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566759] Chr5:112841018 [GRCh38]
Chr5:112176715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2653G>A (p.Ala885Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537036] Chr5:112838247 [GRCh38]
Chr5:112173944 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.684_687del (p.Leu229fs) deletion Familial adenomatous polyposis 1 [RCV003337311]|Familial adenomatous polyposis 1 [RCV003742772] Chr5:112792483..112792486 [GRCh38]
Chr5:112128180..112128183 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3242G>T (p.Ser1081Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767163]|Hereditary cancer-predisposing syndrome [RCV000562817] Chr5:112838836 [GRCh38]
Chr5:112174533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7107A>G (p.Pro2369=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651976]|Hereditary cancer-predisposing syndrome [RCV000562827]|not provided [RCV001653908] Chr5:112842701 [GRCh38]
Chr5:112178398 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.8445G>T (p.Lys2815Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767147]|Hereditary cancer-predisposing syndrome [RCV000564574]|not provided [RCV001755938] Chr5:112844039 [GRCh38]
Chr5:112179736 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7228G>A (p.Ala2410Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767211]|Hereditary cancer-predisposing syndrome [RCV000564715] Chr5:112842822 [GRCh38]
Chr5:112178519 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3465A>G (p.Glu1155=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767235]|Hereditary cancer-predisposing syndrome [RCV000566242] Chr5:112839059 [GRCh38]
Chr5:112174756 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1263G>A (p.Trp421Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335445]|not provided [RCV000521866] Chr5:112819295 [GRCh38]
Chr5:112154992 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30530G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003651962] Chr5:112707414 [GRCh38]
Chr5:112043111 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8161C>A (p.Arg2721Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562944] Chr5:112843755 [GRCh38]
Chr5:112179452 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.777G>A (p.Arg259=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652043]|Hereditary cancer-predisposing syndrome [RCV000563040] Chr5:112801326 [GRCh38]
Chr5:112137023 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30526A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537057] Chr5:112707418 [GRCh38]
Chr5:112043115 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7586C>T (p.Ala2529Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742790]|Hereditary cancer-predisposing syndrome [RCV002395425] Chr5:112843180 [GRCh38]
Chr5:112178877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1617C>A (p.Asp539Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569284] Chr5:112827997 [GRCh38]
Chr5:112163694 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5619C>T (p.Asp1873=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527841]|Hereditary cancer-predisposing syndrome [RCV000563639]|not provided [RCV003326459] Chr5:112841213 [GRCh38]
Chr5:112176910 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1810G>A (p.Ala604Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767210]|Hereditary cancer-predisposing syndrome [RCV000565697] Chr5:112835017 [GRCh38]
Chr5:112170714 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6703G>A (p.Gly2235Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526899]|Hereditary cancer-predisposing syndrome [RCV000567754] Chr5:112842297 [GRCh38]
Chr5:112177994 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-71C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742640] Chr5:112707647 [GRCh38]
Chr5:112043344 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2731G>C (p.Glu911Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742623]|Hereditary cancer-predisposing syndrome [RCV001016426] Chr5:112838325 [GRCh38]
Chr5:112174022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1096G>C (p.Asp366His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652007]|Hereditary cancer-predisposing syndrome [RCV000567900] Chr5:112819128 [GRCh38]
Chr5:112154825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.890C>G (p.Thr297Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537166]|Hereditary cancer-predisposing syndrome [RCV000563659] Chr5:112815550 [GRCh38]
Chr5:112151247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30530G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002231940] Chr5:112707414 [GRCh38]
Chr5:112043111 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-65C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002231890] Chr5:112707653 [GRCh38]
Chr5:112043350 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112072721)_(112111440_?)dup duplication Familial adenomatous polyposis 1 [RCV000550240]|Familial adenomatous polyposis 1 [RCV001858057] Chr5:112737024..112775743 [GRCh38]
Chr5:112072721..112111440 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.757G>T (p.Gly253Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528038]|Hereditary cancer-predisposing syndrome [RCV000566035] Chr5:112801306 [GRCh38]
Chr5:112137003 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2686_2689dup (p.Ile897fs) duplication Familial adenomatous polyposis 1 [RCV002526199]|Familial adenomatous polyposis 1 [RCV003742620] Chr5:112838277..112838278 [GRCh38]
Chr5:112173974..112173975 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5677A>G (p.Lys1893Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528027]|Familial adenomatous polyposis 1 [RCV003537105]|Hereditary cancer-predisposing syndrome [RCV000567946] Chr5:112841271 [GRCh38]
Chr5:112176968 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7763A>G (p.Asp2588Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744553]|Hereditary cancer-predisposing syndrome [RCV000560969] Chr5:112843357 [GRCh38]
Chr5:112179054 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.445G>C (p.Asp149His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537192]|Hereditary cancer-predisposing syndrome [RCV000563918] Chr5:112775651 [GRCh38]
Chr5:112111348 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7054A>G (p.Ser2352Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537136]|Hereditary cancer-predisposing syndrome [RCV000564094] Chr5:112842648 [GRCh38]
Chr5:112178345 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.989T>G (p.Met330Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566179] Chr5:112819021 [GRCh38]
Chr5:112154718 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6611G>T (p.Arg2204Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527853]|Hereditary cancer-predisposing syndrome [RCV001025455]|not provided [RCV003441933] Chr5:112842205 [GRCh38]
Chr5:112177902 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6348T>C (p.His2116=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742761]|Hereditary cancer-predisposing syndrome [RCV002367891] Chr5:112841942 [GRCh38]
Chr5:112177639 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3674C>G (p.Ala1225Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742689]|Hereditary cancer-predisposing syndrome [RCV000774964]|Inborn genetic diseases [RCV003159866] Chr5:112839268 [GRCh38]
Chr5:112174965 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3476C>G (p.Pro1159Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232117]|Hereditary cancer-predisposing syndrome [RCV000561063] Chr5:112839070 [GRCh38]
Chr5:112174767 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2359A>G (p.Ser787Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470761]|Hereditary cancer-predisposing syndrome [RCV000566086] Chr5:112837953 [GRCh38]
Chr5:112173650 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.608A>G (p.Gln203Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537078]|Hereditary cancer-predisposing syndrome [RCV000580800]|not provided [RCV000679074] Chr5:112780866 [GRCh38]
Chr5:112116563 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337306]|Familial multiple polyposis syndrome [RCV000780834]|not provided [RCV000521142] Chr5:112840425 [GRCh38]
Chr5:112176122 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.5(APC):c.-30478T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742657] Chr5:112707466 [GRCh38]
Chr5:112043163 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1412G>T (p.Gly471Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526172]|Familial adenomatous polyposis 1 [RCV003743773]|Hereditary cancer-predisposing syndrome [RCV001011474]|not provided [RCV003478166]|not specified [RCV002222549] Chr5:112827111 [GRCh38]
Chr5:112162808 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.857A>T (p.His286Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767138]|Hereditary cancer-predisposing syndrome [RCV000566371] Chr5:112815517 [GRCh38]
Chr5:112151214 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1039A>G (p.Met347Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537191]|Hereditary cancer-predisposing syndrome [RCV000561328] Chr5:112819071 [GRCh38]
Chr5:112154768 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1435T>A (p.Leu479Met) single nucleotide variant Colorectal cancer [RCV001196154]|Familial adenomatous polyposis 1 [RCV003537200]|Hereditary cancer-predisposing syndrome [RCV000561344] Chr5:112827134 [GRCh38]
Chr5:112162831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3962G>A (p.Ser1321Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652000]|Hereditary cancer-predisposing syndrome [RCV000561466] Chr5:112839556 [GRCh38]
Chr5:112175253 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4609A>G (p.Thr1537Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528034]|Hereditary cancer-predisposing syndrome [RCV000564297]|not provided [RCV003314620] Chr5:112840203 [GRCh38]
Chr5:112175900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-3T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003337315]|Hereditary cancer-predisposing syndrome [RCV000566457] Chr5:112827105 [GRCh38]
Chr5:112162802 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_001127511.3(APC):c.-184G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537054] Chr5:112707534 [GRCh38]
Chr5:112043231 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4464A>G (p.Leu1488=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742710]|Hereditary cancer-predisposing syndrome [RCV002330920] Chr5:112840058 [GRCh38]
Chr5:112175755 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5974C>G (p.Pro1992Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742748]|Hereditary cancer-predisposing syndrome [RCV000568583] Chr5:112841568 [GRCh38]
Chr5:112177265 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-9A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003335471]|Familial adenomatous polyposis 1 [RCV003742705] Chr5:112775620 [GRCh38]
Chr5:112111317 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.4009C>A (p.Leu1337Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742699]|Hereditary cancer-predisposing syndrome [RCV000584688] Chr5:112839603 [GRCh38]
Chr5:112175300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2939_2941del (p.Lys980_Pro981delinsThr) deletion Familial adenomatous polyposis 1 [RCV003742629] Chr5:112838533..112838535 [GRCh38]
Chr5:112174230..112174232 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2523A>C (p.Leu841Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744557]|Hereditary cancer-predisposing syndrome [RCV000561789] Chr5:112838117 [GRCh38]
Chr5:112173814 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3189T>C (p.Ser1063=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742674] Chr5:112838783 [GRCh38]
Chr5:112174480 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2262T>C (p.Val754=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742603]|Hereditary cancer-predisposing syndrome [RCV000568933]|not provided [RCV003884623] Chr5:112837856 [GRCh38]
Chr5:112173553 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7832C>A (p.Thr2611Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527879]|Familial adenomatous polyposis 1 [RCV003742799]|Hereditary cancer-predisposing syndrome [RCV000572911]|not provided [RCV001558793] Chr5:112843426 [GRCh38]
Chr5:112179123 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6390_6391del (p.Asp2131fs) deletion Familial adenomatous polyposis 1 [RCV003337317]|Hereditary cancer-predisposing syndrome [RCV000566854] Chr5:112841984..112841985 [GRCh38]
Chr5:112177681..112177682 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1787C>T (p.Ser596Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526923]|Familial adenomatous polyposis 1 [RCV003652044]|Hereditary cancer-predisposing syndrome [RCV000568849] Chr5:112834994 [GRCh38]
Chr5:112170691 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+3A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002231391]|Familial adenomatous polyposis 1 [RCV002291663]|Hereditary cancer-predisposing syndrome [RCV000567805]|not provided [RCV003478165]|not specified [RCV002265797] Chr5:112821994 [GRCh38]
Chr5:112157691 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3873GAC[1] (p.Thr1293del) microsatellite Familial adenomatous polyposis 1 [RCV003767027]|Hereditary cancer-predisposing syndrome [RCV000575379] Chr5:112839467..112839469 [GRCh38]
Chr5:112175164..112175166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7794C>T (p.Thr2598=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565041] Chr5:112843388 [GRCh38]
Chr5:112179085 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.10G>T (p.Ala4Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652050]|Hereditary cancer-predisposing syndrome [RCV000562185] Chr5:112754900 [GRCh38]
Chr5:112090597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2538T>A (p.Ser846=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742611]|Hereditary cancer-predisposing syndrome [RCV000562201] Chr5:112838132 [GRCh38]
Chr5:112173829 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1633dup (p.Ala545fs) duplication Familial adenomatous polyposis 1 [RCV002231396]|Familial adenomatous polyposis 1 [RCV003743777] Chr5:112828861..112828862 [GRCh38]
Chr5:112164558..112164559 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5676T>C (p.Ala1892=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742743]|Hereditary cancer-predisposing syndrome [RCV000562216] Chr5:112841270 [GRCh38]
Chr5:112176967 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7497T>C (p.Val2499=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742786]|Hereditary cancer-predisposing syndrome [RCV001185481] Chr5:112843091 [GRCh38]
Chr5:112178788 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4617A>G (p.Ser1539=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742716]|Hereditary cancer-predisposing syndrome [RCV001022788] Chr5:112840211 [GRCh38]
Chr5:112175908 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-78C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537045] Chr5:112707640 [GRCh38]
Chr5:112043337 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3882G>T (p.Gln1294His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537203]|Hereditary cancer-predisposing syndrome [RCV000562351] Chr5:112839476 [GRCh38]
Chr5:112175173 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7252A>G (p.Arg2418Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742782]|Hereditary cancer-predisposing syndrome [RCV000570952] Chr5:112842846 [GRCh38]
Chr5:112178543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4761A>G (p.Ser1587=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537212]|Hereditary cancer-predisposing syndrome [RCV000565268]|not provided [RCV000656569] Chr5:112840355 [GRCh38]
Chr5:112176052 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8442G>C (p.Lys2814Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742817] Chr5:112844036 [GRCh38]
Chr5:112179733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.279C>T (p.Leu93=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231578]|Hereditary cancer-predisposing syndrome [RCV000565354] Chr5:112767247 [GRCh38]
Chr5:112102944 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112090582)_(112111440_?)dup duplication Familial adenomatous polyposis 1 [RCV000549344] Chr5:112754885..112775743 [GRCh38]
Chr5:112090582..112111440 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.3559A>G (p.Ile1187Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742683]|Hereditary cancer-predisposing syndrome [RCV001020607] Chr5:112839153 [GRCh38]
Chr5:112174850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3755C>T (p.Ser1252Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742694]|Hereditary cancer-predisposing syndrome [RCV000580158]|not provided [RCV001775865] Chr5:112839349 [GRCh38]
Chr5:112175046 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30573A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742663] Chr5:112707371 [GRCh38]
Chr5:112043068 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.313A>G (p.Ser105Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652013]|Hereditary cancer-predisposing syndrome [RCV000562645]|not provided [RCV003441949] Chr5:112767281 [GRCh38]
Chr5:112102978 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3695A>G (p.His1232Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767247]|Hereditary cancer-predisposing syndrome [RCV000562689] Chr5:112839289 [GRCh38]
Chr5:112174986 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6366A>T (p.Ala2122=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537104]|Hereditary cancer-predisposing syndrome [RCV000562751]|not provided [RCV001704686]|not specified [RCV002265802] Chr5:112841960 [GRCh38]
Chr5:112177657 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2790_2791delinsGTGT (p.His931fs) indel Familial adenomatous polyposis 1 [RCV000545482]|Hereditary cancer-predisposing syndrome [RCV002438445] Chr5:112838384..112838385 [GRCh38]
Chr5:112174081..112174082 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5145C>G (p.Asp1715Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562943] Chr5:112840739 [GRCh38]
Chr5:112176436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6620C>T (p.Ser2207Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744558]|Hereditary cancer-predisposing syndrome [RCV000567449]|not provided [RCV001775887]|not specified [RCV002248785] Chr5:112842214 [GRCh38]
Chr5:112177911 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4702G>C (p.Asp1568His) single nucleotide variant APC-related condition [RCV003392396]|Familial adenomatous polyposis 1 [RCV003767031] Chr5:112840296 [GRCh38]
Chr5:112175993 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7865C>G (p.Pro2622Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767158]|Hereditary cancer-predisposing syndrome [RCV000569089] Chr5:112843459 [GRCh38]
Chr5:112179156 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.146A>C (p.Lys49Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003465213]|Hereditary cancer-predisposing syndrome [RCV000563070]|not provided [RCV003320697]|not specified [RCV001260373] Chr5:112766336 [GRCh38]
Chr5:112102033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7245A>G (p.Glu2415=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537084]|Hereditary cancer-predisposing syndrome [RCV003159869] Chr5:112842839 [GRCh38]
Chr5:112178536 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6106G>A (p.Asp2036Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652034]|Hereditary cancer-predisposing syndrome [RCV000563143] Chr5:112841700 [GRCh38]
Chr5:112177397 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_001127511.3(APC):c.133C>T (p.Arg45Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002289765]|not specified [RCV003320681] Chr5:112707850 [GRCh38]
Chr5:112043547 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6677G>A (p.Arg2226Gln) single nucleotide variant APC-related condition [RCV003900204]|Familial adenomatous polyposis 1 [RCV002232030]|Hereditary cancer-predisposing syndrome [RCV001025521] Chr5:112842271 [GRCh38]
Chr5:112177968 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2077A>T (p.Lys693Ter) single nucleotide variant not provided [RCV000522391] Chr5:112837671 [GRCh38]
Chr5:112173368 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-79G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742641] Chr5:112707639 [GRCh38]
Chr5:112043336 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.221-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003335203]|Hereditary cancer-predisposing syndrome [RCV000491712]|not provided [RCV000201979] Chr5:112767188 [GRCh38]
Chr5:112102885 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
APC, 2-BP INS, CODON 1924 insertion Desmoid disease, hereditary [RCV000000860] Chr5:5q21-q22 pathogenic
APC, 4-BP DEL, NT5844 deletion Desmoid disease, hereditary [RCV000000861] Chr5:5q21-q22 pathogenic
NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer) deletion Familial adenomatous polyposis 1 [RCV000000863]|Familial adenomatous polyposis 1 [RCV003534304]|Familial multiple polyposis syndrome [RCV000779705] Chr5:112841174..112841177 [GRCh38]
Chr5:112176871..112176874 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1458T>G (p.Tyr486Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000000868]|Familial adenomatous polyposis 1 [RCV003534305] Chr5:112827157 [GRCh38]
Chr5:112162854 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.4575_4576insAlu1 insertion Desmoid disease, hereditary [RCV000000876] Chr5:112840169..112840170 [GRCh38]
Chr5:112175866..112175867 [GRCh37]
Chr5:5q22.2		 pathogenic
APC deletion deletion Familial adenomatous polyposis 1 [RCV000000877] Chr5:112707504..112846240 [GRCh38]
Chr5:112043201..112181937 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1059_1060insAAGGATGATAT (p.Pro354fs) insertion Familial adenomatous polyposis 1 [RCV000000879] Chr5:112819090..112819091 [GRCh38]
Chr5:112154787..112154788 [GRCh37]
Chr5:5q22.2		 pathogenic
APC, 1-BP DEL, 3720T deletion Desmoid tumor caused by somatic mutation [RCV000000881] Chr5:5q21-q22 pathogenic|other
NG_008481.4:g.(?_150033)_(158719_?)del deletion Familial adenomatous polyposis 1 [RCV000000884] Chr5:112837553..112846239 [GRCh38]
Chr5:112173250..112181936 [GRCh37]
Chr5:5q22.2		 pathogenic
APC, 5-BP DEL, NT3221 deletion Familial adenomatous polyposis 1 [RCV000000885] Chr5:5q21-q22 pathogenic
APC, 4-BP DEL, 7929TCTA deletion Desmoid disease, hereditary [RCV000000880] Chr5:5q21-q22 pathogenic
NM_000038.6(APC):c.419A>C (p.Glu140Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771145]|Hereditary cancer-predisposing syndrome [RCV002329376] Chr5:112767387 [GRCh38]
Chr5:112103084 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4009_4010dup (p.Gln1338fs) duplication Familial adenomatous polyposis 1 [RCV003742698]|Hereditary cancer-predisposing syndrome [RCV002256378] Chr5:112839602..112839603 [GRCh38]
Chr5:112175299..112175300 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8464A>G (p.Ser2822Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742819] Chr5:112844058 [GRCh38]
Chr5:112179755 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3875_3882delinsAGATGAAATAGGATGTAAGCA (p.Thr1292_Gln1294delinsLysMetLysTer) indel Familial adenomatous polyposis 1 [RCV003337365]|Familial adenomatous polyposis 1 [RCV003744793]|Familial multiple polyposis syndrome [RCV001290600] Chr5:112839469..112839476 [GRCh38]
Chr5:112175166..112175173 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.417A>G (p.Lys139=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232154]|Hereditary cancer-predisposing syndrome [RCV000561844]|not specified [RCV001420741] Chr5:112767385 [GRCh38]
Chr5:112103082 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5670A>G (p.Ser1890=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767033]|Hereditary cancer-predisposing syndrome [RCV000584161]|not provided [RCV001696950]|not specified [RCV003226323] Chr5:112841264 [GRCh38]
Chr5:112176961 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4086C>G (p.Ser1362=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742701] Chr5:112839680 [GRCh38]
Chr5:112175377 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5305A>C (p.Lys1769Gln) single nucleotide variant not specified [RCV003321035] Chr5:112840899 [GRCh38]
Chr5:112176596 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4293_4316dup (p.Pro1441_Pro1442insSerArgSerLysThrProProPro) duplication not specified [RCV003321032] Chr5:112839886..112839887 [GRCh38]
Chr5:112175583..112175584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.98A>T (p.His33Leu) single nucleotide variant not specified [RCV003321023] Chr5:112754988 [GRCh38]
Chr5:112090685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2218G>A (p.Ala740Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742599]|Hereditary cancer-predisposing syndrome [RCV001014782] Chr5:112837812 [GRCh38]
Chr5:112173509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-42A>G single nucleotide variant not specified [RCV003321026] Chr5:112818924 [GRCh38]
Chr5:112154621 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3262A>C (p.Lys1088Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563321] Chr5:112838856 [GRCh38]
Chr5:112174553 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.414G>A (p.Glu138=) single nucleotide variant APC-related condition [RCV003900289]|Familial adenomatous polyposis 1 [RCV002232181]|Hereditary cancer-predisposing syndrome [RCV000563602]|not provided [RCV000933345] Chr5:112767382 [GRCh38]
Chr5:112103079 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.805A>G (p.Ile269Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742808] Chr5:112801354 [GRCh38]
Chr5:112137051 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2882A>G (p.Asn961Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767236]|Hereditary cancer-predisposing syndrome [RCV000562749] Chr5:112838476 [GRCh38]
Chr5:112174173 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6989C>T (p.Ser2330Phe) single nucleotide variant APC-Associated Polyposis Disorders [RCV001153052]|Familial adenomatous polyposis 1 [RCV000695048]|Familial adenomatous polyposis 1 [RCV003744570]|Hereditary cancer-predisposing syndrome [RCV000563660] Chr5:112842583 [GRCh38]
Chr5:112178280 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1957A>C (p.Arg653=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335499]|Hereditary cancer-predisposing syndrome [RCV000564051] Chr5:112835164 [GRCh38]
Chr5:112170861 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2863del (p.Glu955fs) deletion Familial adenomatous polyposis 1 [RCV003335465]|Familial adenomatous polyposis 1 [RCV003742627]|Hereditary cancer-predisposing syndrome [RCV001016821] Chr5:112838457 [GRCh38]
Chr5:112174154 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1614A>G (p.Glu538=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231540]|Hereditary cancer-predisposing syndrome [RCV000564067] Chr5:112827994 [GRCh38]
Chr5:112163691 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8282C>T (p.Pro2761Leu) single nucleotide variant Desmoid disease, hereditary [RCV002476175]|Familial adenomatous polyposis 1 [RCV003767046]|Hereditary cancer-predisposing syndrome [RCV000571658]|not provided [RCV001541690] Chr5:112843876 [GRCh38]
Chr5:112179573 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.707A>G (p.Gln236Arg) single nucleotide variant APC-related condition [RCV003392410]|Familial adenomatous polyposis 1 [RCV003767142]|Hereditary cancer-predisposing syndrome [RCV000563056] Chr5:112792507 [GRCh38]
Chr5:112128204 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3990T>A (p.Pro1330=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651985]|Hereditary cancer-predisposing syndrome [RCV000563843] Chr5:112839584 [GRCh38]
Chr5:112175281 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3428A>G (p.Tyr1143Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651969]|Hereditary cancer-predisposing syndrome [RCV000571619]|not provided [RCV001800755] Chr5:112839022 [GRCh38]
Chr5:112174719 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1120C>T (p.Arg374Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535808]|Hereditary cancer-predisposing syndrome [RCV000572679]|not specified [RCV001526888] Chr5:112819152 [GRCh38]
Chr5:112154849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7491G>A (p.Ser2497=) single nucleotide variant APC-related condition [RCV003980052]|Familial adenomatous polyposis 1 [RCV003767134]|Hereditary cancer-predisposing syndrome [RCV000562507]|not specified [RCV000614190] Chr5:112843085 [GRCh38]
Chr5:112178782 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4119T>A (p.Pro1373=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742702]|Hereditary cancer-predisposing syndrome [RCV000777208]|not specified [RCV000613736] Chr5:112839713 [GRCh38]
Chr5:112175410 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5998A>C (p.Ser2000Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742751]|Hereditary cancer-predisposing syndrome [RCV002358547] Chr5:112841592 [GRCh38]
Chr5:112177289 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6047A>G (p.Asp2016Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561061] Chr5:112841641 [GRCh38]
Chr5:112177338 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7274G>A (p.Ser2425Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652029]|Hereditary cancer-predisposing syndrome [RCV000561196]|not provided [RCV001284368] Chr5:112842868 [GRCh38]
Chr5:112178565 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5247G>T (p.Gln1749His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232177]|Hereditary cancer-predisposing syndrome [RCV000561457]|not provided [RCV003126826] Chr5:112840841 [GRCh38]
Chr5:112176538 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+17G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742632] Chr5:112707899 [GRCh38]
Chr5:112043596 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3631A>G (p.Met1211Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742687]|Hereditary cancer-predisposing syndrome [RCV000563324] Chr5:112839225 [GRCh38]
Chr5:112174922 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5458T>G (p.Ser1820Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742738]|Hereditary cancer-predisposing syndrome [RCV000573678] Chr5:112841052 [GRCh38]
Chr5:112176749 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5357G>C (p.Arg1786Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000532149]|Familial adenomatous polyposis 1 [RCV003651973]|Hereditary cancer-predisposing syndrome [RCV000570548] Chr5:112840951 [GRCh38]
Chr5:112176648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2666A>G (p.Lys889Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526198]|Familial adenomatous polyposis 1 [RCV003742619]|Hereditary cancer-predisposing syndrome [RCV001016154]|not specified [RCV002465708] Chr5:112838260 [GRCh38]
Chr5:112173957 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7541C>G (p.Thr2514Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526839]|Familial adenomatous polyposis 1 [RCV003537098]|Hereditary cancer-predisposing syndrome [RCV000564293]|not provided [RCV000985320] Chr5:112843135 [GRCh38]
Chr5:112178832 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6623A>C (p.Glu2208Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476297]|Hereditary cancer-predisposing syndrome [RCV000775343] Chr5:112842217 [GRCh38]
Chr5:112177914 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-132G>T single nucleotide variant APC-related condition [RCV003979998]|Familial adenomatous polyposis 1 [RCV003742648]|not specified [RCV000611510] Chr5:112707586 [GRCh38]
Chr5:112043283 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.15A>G (p.Ser5=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651994]|Hereditary cancer-predisposing syndrome [RCV000561552]|not provided [RCV002225669] Chr5:112754905 [GRCh38]
Chr5:112090602 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4100A>G (p.Gln1367Arg) single nucleotide variant APC-related condition [RCV003403314]|Familial adenomatous polyposis 1 [RCV000532247]|Familial adenomatous polyposis 1 [RCV002231976]|Hereditary cancer-predisposing syndrome [RCV000573595]|not provided [RCV002508225]|not specified [RCV000611032] Chr5:112839694 [GRCh38]
Chr5:112175391 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.468C>G (p.Asp156Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537071]|Hereditary cancer-predisposing syndrome [RCV000567343]|not provided [RCV003332195]|not specified [RCV001193497] Chr5:112775674 [GRCh38]
Chr5:112111371 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2481T>C (p.Asn827=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155357]|Familial adenomatous polyposis 1 [RCV002526192]|Hereditary cancer-predisposing syndrome [RCV000571901] Chr5:112838075 [GRCh38]
Chr5:112173772 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.825del (p.Asn276fs) deletion Hereditary cancer-predisposing syndrome [RCV000561664] Chr5:112801374 [GRCh38]
Chr5:112137071 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.700C>T (p.Leu234Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742777]|Hereditary cancer-predisposing syndrome [RCV001025921] Chr5:112792500 [GRCh38]
Chr5:112128197 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6605A>C (p.Lys2202Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651996]|Hereditary cancer-predisposing syndrome [RCV000561715] Chr5:112842199 [GRCh38]
Chr5:112177896 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4840G>A (p.Val1614Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537158]|Hereditary cancer-predisposing syndrome [RCV000561885] Chr5:112840434 [GRCh38]
Chr5:112176131 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2945C>T (p.Ser982Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537116]|Hereditary cancer-predisposing syndrome [RCV000561942]|not provided [RCV001284349] Chr5:112838539 [GRCh38]
Chr5:112174236 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2250A>T (p.Pro750=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538406]|Hereditary cancer-predisposing syndrome [RCV001014934]|not provided [RCV000733593] Chr5:112837844 [GRCh38]
Chr5:112173541 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6970C>A (p.Pro2324Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562063] Chr5:112842564 [GRCh38]
Chr5:112178261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2410A>T (p.Asn804Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742608] Chr5:112838004 [GRCh38]
Chr5:112173701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2047A>G (p.Thr683Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742596]|Hereditary cancer-predisposing syndrome [RCV000565689]|not provided [RCV000985289] Chr5:112837641 [GRCh38]
Chr5:112173338 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5801C>G (p.Pro1934Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527843]|Familial adenomatous polyposis 1 [RCV003537077]|Hereditary cancer-predisposing syndrome [RCV002358545] Chr5:112841395 [GRCh38]
Chr5:112177092 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5540C>T (p.Thr1847Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742742]|Hereditary cancer-predisposing syndrome [RCV000562281]|not provided [RCV002285359]|not specified [RCV000780847] Chr5:112841134 [GRCh38]
Chr5:112176831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2335T>C (p.Leu779=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742605]|Hereditary cancer-predisposing syndrome [RCV000775136]|not specified [RCV000614676] Chr5:112837929 [GRCh38]
Chr5:112173626 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2472A>T (p.Pro824=) single nucleotide variant APC-related condition [RCV003900260]|Familial adenomatous polyposis 1 [RCV000987564]|Familial adenomatous polyposis 1 [RCV003537163]|Hereditary cancer-predisposing syndrome [RCV000566401]|not provided [RCV000843752] Chr5:112838066 [GRCh38]
Chr5:112173763 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2656C>T (p.Gln886Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744572]|Hereditary cancer-predisposing syndrome [RCV000565148] Chr5:112838250 [GRCh38]
Chr5:112173947 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30458T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002526238] Chr5:112707486 [GRCh38]
Chr5:112043183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2280A>G (p.Leu760=) single nucleotide variant APC-related condition [RCV003942822]|Familial adenomatous polyposis 1 [RCV003742604]|Hereditary cancer-predisposing syndrome [RCV000571888]|not provided [RCV003478167]|not specified [RCV003317274] Chr5:112837874 [GRCh38]
Chr5:112173571 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_001127511.3(APC):c.1A>G (p.Met1Val) single nucleotide variant Desmoid disease, hereditary [RCV000764558]|Familial adenomatous polyposis 1 [RCV002231884]|not provided [RCV003736809] Chr5:112707718 [GRCh38]
Chr5:112043415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3609A>T (p.Gly1203=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744561]|Hereditary cancer-predisposing syndrome [RCV000566658] Chr5:112839203 [GRCh38]
Chr5:112174900 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1759del (p.Ser587fs) deletion Familial adenomatous polyposis 1 [RCV003335462]|Hereditary cancer-predisposing syndrome [RCV002413576] Chr5:112834963 [GRCh38]
Chr5:112170660 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30559G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003767024] Chr5:112707385 [GRCh38]
Chr5:112043082 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.76G>C (p.Glu26Gln) single nucleotide variant APC-related condition [RCV003392411]|Familial adenomatous polyposis 1 [RCV002526867]|Hereditary cancer-predisposing syndrome [RCV000566833] Chr5:112754966 [GRCh38]
Chr5:112090663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5478G>A (p.Lys1826=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231485]|Hereditary cancer-predisposing syndrome [RCV002350318]|not provided [RCV000679066] Chr5:112841072 [GRCh38]
Chr5:112176769 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2814T>C (p.Thr938=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652037]|Hereditary cancer-predisposing syndrome [RCV000566958] Chr5:112838408 [GRCh38]
Chr5:112174105 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.638G>A (p.Arg213Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742764]|Hereditary cancer-predisposing syndrome [RCV000583903]|not specified [RCV000602624] Chr5:112780896 [GRCh38]
Chr5:112116593 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.-68G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742639] Chr5:112707650 [GRCh38]
Chr5:112043347 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.358A>G (p.Arg120Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744547]|Hereditary cancer-predisposing syndrome [RCV000561323]|not provided [RCV000679056]|not specified [RCV001192979] Chr5:112767326 [GRCh38]
Chr5:112103023 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2566C>T (p.Arg856Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767012]|Hereditary cancer-predisposing syndrome [RCV001015969]|not provided [RCV001577894] Chr5:112838160 [GRCh38]
Chr5:112173857 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1502C>T (p.Ala501Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526853]|Familial adenomatous polyposis 1 [RCV003537130]|Hereditary cancer-predisposing syndrome [RCV000562600] Chr5:112827201 [GRCh38]
Chr5:112162898 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-149A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002231914] Chr5:112707569 [GRCh38]
Chr5:112043266 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1564dup (p.Met522fs) duplication Familial adenomatous polyposis 1 [RCV003337307]|Familial adenomatous polyposis 1 [RCV003743775]|Hereditary cancer-predisposing syndrome [RCV002404498] Chr5:112827943..112827944 [GRCh38]
Chr5:112163640..112163641 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.39G>C (p.Leu13Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526213] Chr5:112707756 [GRCh38]
Chr5:112043453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4796C>G (p.Ser1599Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742718]|not provided [RCV001092763] Chr5:112840390 [GRCh38]
Chr5:112176087 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3040A>G (p.Met1014Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000546302]|Hereditary cancer-predisposing syndrome [RCV000580428] Chr5:112838634 [GRCh38]
Chr5:112174331 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3355C>G (p.His1119Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537067]|Hereditary cancer-predisposing syndrome [RCV001020068]|not provided [RCV001284356] Chr5:112838949 [GRCh38]
Chr5:112174646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8265T>G (p.Ser2755=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742806]|Hereditary cancer-predisposing syndrome [RCV000573337]|not specified [RCV000606053] Chr5:112843859 [GRCh38]
Chr5:112179556 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1974G>A (p.Glu658=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743785]|Hereditary cancer-predisposing syndrome [RCV001013809] Chr5:112837568 [GRCh38]
Chr5:112173265 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7022A>G (p.Lys2341Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537134]|Hereditary cancer-predisposing syndrome [RCV000562746] Chr5:112842616 [GRCh38]
Chr5:112178313 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.768T>G (p.Asp256Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742794]|Hereditary cancer-predisposing syndrome [RCV001026715]|not provided [RCV000985321] Chr5:112801317 [GRCh38]
Chr5:112137014 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-83C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003153716] Chr5:112707635 [GRCh38]
Chr5:112043332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.905G>A (p.Arg302Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526695]|Familial adenomatous polyposis 1 [RCV003537094]|Hereditary cancer-predisposing syndrome [RCV000579500]|not provided [RCV000985326]|not specified [RCV002248774] Chr5:112815565 [GRCh38]
Chr5:112151262 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5384C>G (p.Ser1795Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537075] Chr5:112840978 [GRCh38]
Chr5:112176675 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2963A>C (p.Glu988Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526857]|Hereditary cancer-predisposing syndrome [RCV000567005] Chr5:112838557 [GRCh38]
Chr5:112174254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112827923)_(112844132_?)del deletion Familial adenomatous polyposis 1 [RCV000527035] Chr5:112827923..112844132 [GRCh38]
Chr5:112163620..112179829 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4496G>A (p.Gly1499Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742713] Chr5:112840090 [GRCh38]
Chr5:112175787 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2812A>G (p.Thr938Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528066]|Hereditary cancer-predisposing syndrome [RCV000563046]|not provided [RCV000587407]|not specified [RCV002248783] Chr5:112838406 [GRCh38]
Chr5:112174103 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.7052C>G (p.Pro2351Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528078]|Hereditary cancer-predisposing syndrome [RCV000563073] Chr5:112842646 [GRCh38]
Chr5:112178343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1802A>G (p.Glu601Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744554]|Hereditary cancer-predisposing syndrome [RCV000567141] Chr5:112835009 [GRCh38]
Chr5:112170706 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1868G>A (p.Arg623Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537207]|Hereditary cancer-predisposing syndrome [RCV000565584]|not provided [RCV002307551] Chr5:112835075 [GRCh38]
Chr5:112170772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2472A>G (p.Pro824=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537033]|Hereditary cancer-predisposing syndrome [RCV000584046]|not provided [RCV001683576] Chr5:112838066 [GRCh38]
Chr5:112173763 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5603_5604insCGA (p.Asp1871dup) insertion Familial adenomatous polyposis 1 [RCV003744551]|Hereditary cancer-predisposing syndrome [RCV000567182] Chr5:112841195..112841196 [GRCh38]
Chr5:112176892..112176893 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6025C>A (p.Pro2009Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742753] Chr5:112841619 [GRCh38]
Chr5:112177316 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2769AAG[1] (p.Arg924del) microsatellite Familial adenomatous polyposis 1 [RCV003537037]|Hereditary cancer-predisposing syndrome [RCV002257817] Chr5:112838361..112838363 [GRCh38]
Chr5:112174058..112174060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.506_510del (p.Ile169fs) deletion Hereditary cancer-predisposing syndrome [RCV000565811] Chr5:112775712..112775716 [GRCh38]
Chr5:112111409..112111413 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.74G>A (p.Trp25Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742635] Chr5:112707791 [GRCh38]
Chr5:112043488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-170G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002231919] Chr5:112707548 [GRCh38]
Chr5:112043245 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2238C>T (p.Gly746=) single nucleotide variant APC-related condition [RCV003966007]|Familial adenomatous polyposis 1 [RCV003538798]|Hereditary cancer-predisposing syndrome [RCV002432387] Chr5:112837832 [GRCh38]
Chr5:112173529 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3209A>T (p.Asn1070Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767132]|Hereditary cancer-predisposing syndrome [RCV000567455] Chr5:112838803 [GRCh38]
Chr5:112174500 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5527C>T (p.Pro1843Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528033]|Hereditary cancer-predisposing syndrome [RCV000567479]|not provided [RCV001755937] Chr5:112841121 [GRCh38]
Chr5:112176818 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2559G>A (p.Glu853=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537034]|Hereditary cancer-predisposing syndrome [RCV003159865] Chr5:112838153 [GRCh38]
Chr5:112173850 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6700C>G (p.Pro2234Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528036]|Familial adenomatous polyposis 1 [RCV003651991]|Hereditary cancer-predisposing syndrome [RCV000565442] Chr5:112842294 [GRCh38]
Chr5:112177991 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.921T>A (p.His307Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537095]|Hereditary cancer-predisposing syndrome [RCV001019030] Chr5:112815581 [GRCh38]
Chr5:112151278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2192C>T (p.Ala731Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565854] Chr5:112837786 [GRCh38]
Chr5:112173483 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-148A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002547471] Chr5:112707570 [GRCh38]
Chr5:112043267 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.845C>A (p.Thr282Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742818] Chr5:112815505 [GRCh38]
Chr5:112151202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2615C>G (p.Thr872Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742616] Chr5:112838209 [GRCh38]
Chr5:112173906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1643del (p.Val547_Leu548insTer) deletion Familial adenomatous polyposis 1 [RCV003743779] Chr5:112828869 [GRCh38]
Chr5:112164566 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs) microsatellite Familial adenomatous polyposis 1 [RCV002530282]|Familial adenomatous polyposis 1 [RCV003537143]|Hereditary cancer-predisposing syndrome [RCV000561579]|not provided [RCV000758744] Chr5:112843068..112843069 [GRCh38]
Chr5:112178765..112178766 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3131C>T (p.Ser1044Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526901]|Familial adenomatous polyposis 1 [RCV003652036]|Hereditary cancer-predisposing syndrome [RCV000561596]|not provided [RCV003441956] Chr5:112838725 [GRCh38]
Chr5:112174422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7914T>G (p.Ala2638=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742803] Chr5:112843508 [GRCh38]
Chr5:112179205 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5615T>G (p.Val1872Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651997]|Hereditary cancer-predisposing syndrome [RCV000564407] Chr5:112841209 [GRCh38]
Chr5:112176906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-6T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742733]|not provided [RCV001775867] Chr5:112780784 [GRCh38]
Chr5:112116481 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2581G>A (p.Gly861Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561669] Chr5:112838175 [GRCh38]
Chr5:112173872 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-212G>A single nucleotide variant APC-related condition [RCV003900202]|Familial adenomatous polyposis 1 [RCV003651958] Chr5:112707506 [GRCh38]
Chr5:112043203 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5197C>T (p.Pro1733Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV001858230]|Hereditary cancer-predisposing syndrome [RCV000565711]|not provided [RCV000588797] Chr5:112840791 [GRCh38]
Chr5:112176488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1043G>A (p.Arg348Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767135]|Hereditary cancer-predisposing syndrome [RCV000565725] Chr5:112819075 [GRCh38]
Chr5:112154772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6294T>G (p.Asn2098Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742759]|Hereditary cancer-predisposing syndrome [RCV000569075] Chr5:112841888 [GRCh38]
Chr5:112177585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7130_7144del (p.Asn2377_Gln2381del) deletion Familial adenomatous polyposis 1 [RCV002530261]|Familial adenomatous polyposis 1 [RCV003537120]|Hereditary cancer-predisposing syndrome [RCV000561992] Chr5:112842723..112842737 [GRCh38]
Chr5:112178420..112178434 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7582A>G (p.Ile2528Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537085] Chr5:112843176 [GRCh38]
Chr5:112178873 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3484T>G (p.Tyr1162Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742680]|Hereditary cancer-predisposing syndrome [RCV000777231] Chr5:112839078 [GRCh38]
Chr5:112174775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-132G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537051] Chr5:112707586 [GRCh38]
Chr5:112043283 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6054A>G (p.Pro2018=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742754]|Hereditary cancer-predisposing syndrome [RCV000569785] Chr5:112841648 [GRCh38]
Chr5:112177345 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30467A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742656] Chr5:112707477 [GRCh38]
Chr5:112043174 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.2820G>A (p.Ser940=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767013]|Hereditary cancer-predisposing syndrome [RCV001016691]|not provided [RCV000840929] Chr5:112838414 [GRCh38]
Chr5:112174111 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.6974G>A (p.Gly2325Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV001253018]|Hereditary cancer-predisposing syndrome [RCV000565897]|not provided [RCV002512116] Chr5:112842568 [GRCh38]
Chr5:112178265 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2531C>A (p.Ser844Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742610] Chr5:112838125 [GRCh38]
Chr5:112173822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4578_4580del (p.Pro1527del) deletion Hereditary cancer-predisposing syndrome [RCV000568061] Chr5:112840170..112840172 [GRCh38]
Chr5:112175867..112175869 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2139A>G (p.Ser713=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537182]|Hereditary cancer-predisposing syndrome [RCV000568063]|not provided [RCV003478272] Chr5:112837733 [GRCh38]
Chr5:112173430 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.86G>A (p.Gly29Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528453] Chr5:112707803 [GRCh38]
Chr5:112043500 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.743A>G (p.Asn248Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000565955] Chr5:112801292 [GRCh38]
Chr5:112136989 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5434A>G (p.Lys1812Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651992]|Hereditary cancer-predisposing syndrome [RCV000568139] Chr5:112841028 [GRCh38]
Chr5:112176725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.168A>G (p.Glu56=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002060444]|Hereditary cancer-predisposing syndrome [RCV000568160]|not specified [RCV003330802] Chr5:112766358 [GRCh38]
Chr5:112102055 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3184C>T (p.Gln1062Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335466]|Familial adenomatous polyposis 1 [RCV003742673]|Hereditary cancer-predisposing syndrome [RCV002324008] Chr5:112838778 [GRCh38]
Chr5:112174475 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-130G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651956] Chr5:112707588 [GRCh38]
Chr5:112043285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4270C>T (p.Pro1424Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744550]|Hereditary cancer-predisposing syndrome [RCV000568289] Chr5:112839864 [GRCh38]
Chr5:112175561 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4354G>T (p.Val1452Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742709]|Hereditary cancer-predisposing syndrome [RCV001186965]|not specified [RCV000583120] Chr5:112839948 [GRCh38]
Chr5:112175645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1455G>A (p.Met485Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767009]|Hereditary cancer-predisposing syndrome [RCV000775131]|not provided [RCV003139839] Chr5:112827154 [GRCh38]
Chr5:112162851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2504C>G (p.Ser835Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562596] Chr5:112838098 [GRCh38]
Chr5:112173795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3589T>C (p.Phe1197Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232427]|Hereditary cancer-predisposing syndrome [RCV000562860] Chr5:112839183 [GRCh38]
Chr5:112174880 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.866C>T (p.Ala289Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744541]|Hereditary cancer-predisposing syndrome [RCV002377121] Chr5:112815526 [GRCh38]
Chr5:112151223 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6032C>T (p.Ser2011Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537114]|Hereditary cancer-predisposing syndrome [RCV000568489] Chr5:112841626 [GRCh38]
Chr5:112177323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.846A>G (p.Thr282=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232070]|Hereditary cancer-predisposing syndrome [RCV002448734] Chr5:112815506 [GRCh38]
Chr5:112151203 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5401G>T (p.Ala1801Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566355] Chr5:112840995 [GRCh38]
Chr5:112176692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30579C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537060] Chr5:112707365 [GRCh38]
Chr5:112043062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30558G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003651965] Chr5:112707386 [GRCh38]
Chr5:112043083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5266TCT[2] (p.Ser1758del) microsatellite Familial adenomatous polyposis 1 [RCV003537099]|Hereditary cancer-predisposing syndrome [RCV000564841]|not provided [RCV003237934] Chr5:112840860..112840862 [GRCh38]
Chr5:112176557..112176559 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.64A>G (p.Asn22Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652047]|Hereditary cancer-predisposing syndrome [RCV000562861]|not provided [RCV000758737] Chr5:112754954 [GRCh38]
Chr5:112090651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5652A>G (p.Ala1884=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563092]|not specified [RCV003488702] Chr5:112841246 [GRCh38]
Chr5:112176943 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30610C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742667] Chr5:112707334 [GRCh38]
Chr5:112043031 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7134T>A (p.Leu2378=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537139]|Hereditary cancer-predisposing syndrome [RCV000566617] Chr5:112842728 [GRCh38]
Chr5:112178425 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.992C>T (p.Ser331Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527896]|Familial adenomatous polyposis 1 [RCV003651981]|Hereditary cancer-predisposing syndrome [RCV001019913] Chr5:112819024 [GRCh38]
Chr5:112154721 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3534T>C (p.Asp1178=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566731] Chr5:112839128 [GRCh38]
Chr5:112174825 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-166C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537053] Chr5:112707552 [GRCh38]
Chr5:112043249 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4321C>G (p.Pro1441Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742708] Chr5:112839915 [GRCh38]
Chr5:112175612 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3827C>G (p.Ser1276Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337325]|Hereditary cancer-predisposing syndrome [RCV002358642]|not provided [RCV000581700] Chr5:112839421 [GRCh38]
Chr5:112175118 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3578del (p.Gln1193fs) deletion Familial adenomatous polyposis 1 [RCV003337324]|not provided [RCV000582809] Chr5:112839172 [GRCh38]
Chr5:112174869 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2343del (p.Lys782fs) deletion Familial adenomatous polyposis 1 [RCV003336077]|not provided [RCV000583157] Chr5:112837935 [GRCh38]
Chr5:112173632 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3316G>T (p.Gly1106Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742678] Chr5:112838910 [GRCh38]
Chr5:112174607 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8089T>G (p.Ser2697Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537198]|Hereditary cancer-predisposing syndrome [RCV000564911]|not provided [RCV002272291] Chr5:112843683 [GRCh38]
Chr5:112179380 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1332T>A (p.His444Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767208]|Hereditary cancer-predisposing syndrome [RCV000563421] Chr5:112821915 [GRCh38]
Chr5:112157612 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8134C>G (p.Pro2712Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742810]|Hereditary cancer-predisposing syndrome [RCV000563424]|not provided [RCV003318592] Chr5:112843728 [GRCh38]
Chr5:112179425 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.832C>T (p.Gln278Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337312]|Familial adenomatous polyposis 1 [RCV003742813]|not provided [RCV000583390] Chr5:112801381 [GRCh38]
Chr5:112137078 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3596dup (p.Ser1200fs) duplication Familial adenomatous polyposis 1 [RCV003335501]|Hereditary cancer-predisposing syndrome [RCV000563539] Chr5:112839187..112839188 [GRCh38]
Chr5:112174884..112174885 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7147G>C (p.Gly2383Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526847]|Familial adenomatous polyposis 1 [RCV003537115]|Hereditary cancer-predisposing syndrome [RCV000566762]|not provided [RCV001284366]|not specified [RCV001800783] Chr5:112842741 [GRCh38]
Chr5:112178438 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6579_6587delinsGTT (p.Val2194_Lys2196delinsLeu) indel Familial adenomatous polyposis 1 [RCV000529035]|Hereditary cancer-predisposing syndrome [RCV001025426] Chr5:112842173..112842181 [GRCh38]
Chr5:112177870..112177878 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4585C>A (p.Gln1529Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566973] Chr5:112840179 [GRCh38]
Chr5:112175876 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8333C>G (p.Ala2778Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579442] Chr5:112843927 [GRCh38]
Chr5:112179624 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7246C>G (p.Leu2416Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579618] Chr5:112842840 [GRCh38]
Chr5:112178537 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5378C>A (p.Ala1793Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580036]|not provided [RCV003478303] Chr5:112840972 [GRCh38]
Chr5:112176669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4553A>G (p.Lys1518Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580042] Chr5:112840147 [GRCh38]
Chr5:112175844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2453A>T (p.Asn818Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767261]|Hereditary cancer-predisposing syndrome [RCV000580169] Chr5:112838047 [GRCh38]
Chr5:112173744 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7472T>A (p.Met2491Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653185]|Hereditary cancer-predisposing syndrome [RCV000580264] Chr5:112843066 [GRCh38]
Chr5:112178763 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6123A>C (p.Glu2041Asp) single nucleotide variant APC-related condition [RCV003900293]|Familial adenomatous polyposis 1 [RCV002529071]|Hereditary cancer-predisposing syndrome [RCV000580270] Chr5:112841717 [GRCh38]
Chr5:112177414 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3546A>C (p.Lys1182Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580286] Chr5:112839140 [GRCh38]
Chr5:112174837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2336dup (p.Leu779fs) duplication Familial adenomatous polyposis 1 [RCV003337313]|Hereditary cancer-predisposing syndrome [RCV000564974] Chr5:112837927..112837928 [GRCh38]
Chr5:112173624..112173625 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5052T>C (p.Phe1684=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742725]|Hereditary cancer-predisposing syndrome [RCV000573552] Chr5:112840646 [GRCh38]
Chr5:112176343 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5931A>G (p.Gln1977=) single nucleotide variant Carcinoma of colon [RCV001356224]|Familial adenomatous polyposis 1 [RCV003767034]|Hereditary cancer-predisposing syndrome [RCV000772159] Chr5:112841525 [GRCh38]
Chr5:112177222 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-96A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003767016] Chr5:112707622 [GRCh38]
Chr5:112043319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8479G>A (p.Gly2827Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529081]|Hereditary cancer-predisposing syndrome [RCV000580317] Chr5:112844073 [GRCh38]
Chr5:112179770 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.467A>G (p.Asp156Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580359] Chr5:112775673 [GRCh38]
Chr5:112111370 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1259G>T (p.Cys420Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653177]|Hereditary cancer-predisposing syndrome [RCV000580366] Chr5:112819291 [GRCh38]
Chr5:112154988 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5491G>A (p.Glu1831Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001860025]|Familial adenomatous polyposis 1 [RCV003471922]|Hereditary cancer-predisposing syndrome [RCV000580418] Chr5:112841085 [GRCh38]
Chr5:112176782 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4606G>A (p.Glu1536Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744583]|Hereditary cancer-predisposing syndrome [RCV000580339] Chr5:112840200 [GRCh38]
Chr5:112175897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1424T>C (p.Ile475Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537215]|Hereditary cancer-predisposing syndrome [RCV000580504] Chr5:112827123 [GRCh38]
Chr5:112162820 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2398G>A (p.Val800Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767259]|Hereditary cancer-predisposing syndrome [RCV000580508] Chr5:112837992 [GRCh38]
Chr5:112173689 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3463G>A (p.Glu1155Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537223]|Hereditary cancer-predisposing syndrome [RCV000580534] Chr5:112839057 [GRCh38]
Chr5:112174754 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7966G>A (p.Asp2656Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580553] Chr5:112843560 [GRCh38]
Chr5:112179257 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7884G>T (p.Gln2628His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459417]|Hereditary cancer-predisposing syndrome [RCV000580571] Chr5:112843478 [GRCh38]
Chr5:112179175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4542A>G (p.Pro1514=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002060440]|Hereditary cancer-predisposing syndrome [RCV000565043] Chr5:112840136 [GRCh38]
Chr5:112175833 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4810C>T (p.Pro1604Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652027]|Hereditary cancer-predisposing syndrome [RCV000565095] Chr5:112840404 [GRCh38]
Chr5:112176101 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1402G>A (p.Glu468Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743772]|Hereditary cancer-predisposing syndrome [RCV002395424] Chr5:112821985 [GRCh38]
Chr5:112157682 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2575G>C (p.Gly859Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000529203]|Familial adenomatous polyposis 1 [RCV003651948]|Hereditary cancer-predisposing syndrome [RCV000564663]|not provided [RCV002509429] Chr5:112838169 [GRCh38]
Chr5:112173866 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.685_686insCGGACATAC (p.Ile228_Leu229insProAspIle) insertion Hereditary cancer-predisposing syndrome [RCV000567190] Chr5:112792477..112792478 [GRCh38]
Chr5:112128174..112128175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1002G>C (p.Leu334Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535807]|Hereditary cancer-predisposing syndrome [RCV001189641] Chr5:112819034 [GRCh38]
Chr5:112154731 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2892A>C (p.Leu964Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767014] Chr5:112838486 [GRCh38]
Chr5:112174183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2754G>A (p.Glu918=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651949]|Hereditary cancer-predisposing syndrome [RCV000574959] Chr5:112838348 [GRCh38]
Chr5:112174045 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3122A>G (p.Gln1041Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526255]|Familial adenomatous polyposis 1 [RCV003537066]|Hereditary cancer-predisposing syndrome [RCV002324007] Chr5:112838716 [GRCh38]
Chr5:112174413 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.405A>G (p.Glu135=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742697] Chr5:112767373 [GRCh38]
Chr5:112103070 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1819T>C (p.Cys607Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567380] Chr5:112835026 [GRCh38]
Chr5:112170723 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.163A>G (p.Ile55Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537102]|Hereditary cancer-predisposing syndrome [RCV000564524] Chr5:112766353 [GRCh38]
Chr5:112102050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-113A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003767017] Chr5:112707605 [GRCh38]
Chr5:112043302 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-131G>C single nucleotide variant APC-related condition [RCV003925671]|Familial adenomatous polyposis 1 [RCV003537050]|not specified [RCV003320683] Chr5:112707587 [GRCh38]
Chr5:112043284 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8395T>C (p.Ser2799Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537184]|Hereditary cancer-predisposing syndrome [RCV000561033] Chr5:112843989 [GRCh38]
Chr5:112179686 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7532T>C (p.Leu2511Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742788] Chr5:112843126 [GRCh38]
Chr5:112178823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3772A>C (p.Thr1258Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561148] Chr5:112839366 [GRCh38]
Chr5:112175063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1952A>G (p.Asp651Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743782]|Hereditary cancer-predisposing syndrome [RCV000564731] Chr5:112835159 [GRCh38]
Chr5:112170856 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.702T>C (p.Leu234=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564224] Chr5:112792502 [GRCh38]
Chr5:112128199 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5635G>C (p.Ala1879Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767032]|Hereditary cancer-predisposing syndrome [RCV000566961] Chr5:112841229 [GRCh38]
Chr5:112176926 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7399C>G (p.Pro2467Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530347]|Familial adenomatous polyposis 1 [RCV003537204]|Hereditary cancer-predisposing syndrome [RCV000564329] Chr5:112842993 [GRCh38]
Chr5:112178690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7491G>C (p.Ser2497=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767042]|Hereditary cancer-predisposing syndrome [RCV001026495] Chr5:112843085 [GRCh38]
Chr5:112178782 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) single nucleotide variant APC-Associated Polyposis Disorders [RCV000358689]|Familial adenomatous polyposis 1 [RCV000020089]|Familial adenomatous polyposis 1 [RCV002286403]|Familial colorectal cancer [RCV000074239]|Familial multiple polyposis syndrome [RCV001270286]|Hereditary cancer-predisposing syndrome [RCV000132160]|not provided [RCV000034393]|not specified [RCV000035078] Chr5:112841059 [GRCh38]
Chr5:112176756 [GRCh37]
Chr5:112204655 [NCBI36]
Chr5:5q22.2		 benign|other|not provided
NM_000038.5(APC):c.730_731delAG microsatellite Familial adenomatous polyposis 1 [RCV000000829]|Familial adenomatous polyposis 1 [RCV003337224]|Hereditary cancer-predisposing syndrome [RCV002381234] Chr5:112801277..112801278 [GRCh38]
Chr5:112136974..112136975 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1369del (p.Ser457fs) deletion Familial adenomatous polyposis 1 [RCV000000831]|Familial adenomatous polyposis 1 [RCV003335003] Chr5:112821950 [GRCh38]
Chr5:112157647 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1500T>G (p.Tyr500Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000000832]|Familial adenomatous polyposis 1 [RCV001851515]|Hereditary cancer-predisposing syndrome [RCV002390083]|not provided [RCV001284231] Chr5:112827199 [GRCh38]
Chr5:112162896 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) single nucleotide variant APC-Associated Polyposis Disorders [RCV000315386]|Familial adenomatous polyposis 1 [RCV000122757]|Gardner syndrome [RCV000000833]|Hereditary cancer-predisposing syndrome [RCV000115067]|not provided [RCV000034380]|not specified [RCV000120052] Chr5:112819272 [GRCh38]
Chr5:112154969 [GRCh37]
Chr5:5q22.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.904C>T (p.Arg302Ter) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210154]|Familial adenomatous polyposis 1 [RCV000000834]|Familial adenomatous polyposis 1 [RCV003337225]|Familial multiple polyposis syndrome [RCV000499742]|Gardner syndrome [RCV000000835]|Hereditary cancer-predisposing syndrome [RCV000164370]|not provided [RCV000077996] Chr5:112815564 [GRCh38]
Chr5:112151261 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|other|not provided
NM_000038.6(APC):c.839C>G (p.Ser280Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534299]|Familial multiple polyposis syndrome [RCV000503268]|Gardner syndrome [RCV000000836] Chr5:112815499 [GRCh38]
Chr5:112151196 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2138C>G (p.Ser713Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337226]|Gardner syndrome [RCV000000837]|Hereditary cancer-predisposing syndrome [RCV000491636] Chr5:112837732 [GRCh38]
Chr5:112173429 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) single nucleotide variant Carcinoma of colon [RCV000000838]|Familial adenomatous polyposis 1 [RCV000168134]|Neoplasm of the large intestine [RCV000423362] Chr5:112839606 [GRCh38]
Chr5:112175303 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|other
NM_000038.6(APC):c.3359G>A (p.Gly1120Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743543]|Gastric cancer [RCV000000839] Chr5:112838953 [GRCh38]
Chr5:112174650 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance|other
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335004]|Gastric cancer [RCV000000840]|Hereditary cancer-predisposing syndrome [RCV001019125] Chr5:112838793 [GRCh38]
Chr5:112174490 [GRCh37]
Chr5:5q22.2		 pathogenic|other
NM_000038.6(APC):c.509_512del (p.Asp170fs) microsatellite Familial adenomatous polyposis 1 [RCV000000841]|Familial adenomatous polyposis 1 [RCV003534300]|Familial multiple polyposis syndrome [RCV001797583]|Hereditary cancer-predisposing syndrome [RCV000491548]|not provided [RCV000201968] Chr5:112775711..112775714 [GRCh38]
Chr5:112111408..112111411 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1069dup (p.Ile357fs) duplication Familial adenomatous polyposis 1 [RCV000000842] Chr5:112819100..112819101 [GRCh38]
Chr5:112154797..112154798 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1621C>T (p.Gln541Ter) single nucleotide variant Brain tumor-polyposis syndrome 2 [RCV000000844]|Carcinoma of colon [RCV000503851]|Familial adenomatous polyposis 1 [RCV000000843]|Familial adenomatous polyposis 1 [RCV002227968]|Familial adenomatous polyposis 1 [RCV003743544]|Hereditary cancer-predisposing syndrome [RCV000490845]|not provided [RCV000657602] Chr5:112828001 [GRCh38]
Chr5:112163698 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1660C>T (p.Arg554Ter) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210172]|Desmoid disease, hereditary [RCV000763541]|Familial adenomatous polyposis 1 [RCV000000845]|Familial adenomatous polyposis 1 [RCV002227969]|Familial adenomatous polyposis 1 [RCV003650350]|Familial multiple polyposis syndrome [RCV000844608]|Gastric cancer [RCV003162203]|Hereditary cancer-predisposing syndrome [RCV000129303]|not provided [RCV000482405] Chr5:112828889 [GRCh38]
Chr5:112164586 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000000846]|Familial adenomatous polyposis 1 [RCV003335006]|Familial multiple polyposis syndrome [RCV001195432]|Hereditary cancer-predisposing syndrome [RCV000493386]|not provided [RCV000524040] Chr5:112828919 [GRCh38]
Chr5:112164616 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1885_1886insA (p.Leu629fs) insertion Familial adenomatous polyposis 1 [RCV000000847] Chr5:112835092..112835093 [GRCh38]
Chr5:112170789..112170790 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210151]|Desmoid disease, hereditary [RCV000763542]|Familial adenomatous polyposis 1 [RCV000000848]|Familial adenomatous polyposis 1 [RCV003337227]|Familial multiple polyposis syndrome [RCV000844610]|Hereditary cancer-predisposing syndrome [RCV000129305]|not provided [RCV000202012] Chr5:112838399 [GRCh38]
Chr5:112174096 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs) microsatellite Carcinoma of colon [RCV000502554]|Colorectal cancer, susceptibility to [RCV000210178]|Familial adenomatous polyposis 1 [RCV003337228]|Gardner syndrome [RCV000000849]|Hereditary cancer-predisposing syndrome [RCV001022414]|Periampullary adenoma [RCV000000850]|not provided [RCV000202100] Chr5:112839979..112839980 [GRCh38]
Chr5:112175676..112175677 [GRCh37]
Chr5:5q22.2		 pathogenic|other
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs) microsatellite Carcinoma of colon [RCV000500484]|Familial adenomatous polyposis 1 [RCV002227973]|Hereditary cancer-predisposing syndrome [RCV000565829]|Periampullary adenoma [RCV000000851] Chr5:112839979..112839982 [GRCh38]
Chr5:112175676..112175679 [GRCh37]
Chr5:5q22.2		 pathogenic|other
NM_000038.6(APC):c.470G>A (p.Trp157Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000000852]|Familial adenomatous polyposis 1 [RCV003534301] Chr5:112775676 [GRCh38]
Chr5:112111373 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.643C>T (p.Gln215Ter) single nucleotide variant Brain tumor-polyposis syndrome 2 [RCV000000854]|Desmoid disease, hereditary [RCV002490286]|Familial adenomatous polyposis 1 [RCV000000853]|Familial adenomatous polyposis 1 [RCV003534302]|Hereditary cancer-predisposing syndrome [RCV000491571]|not provided [RCV000202265]|not specified [RCV000507194] Chr5:112780901 [GRCh38]
Chr5:112116598 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.112172610_112244011del deletion Familial adenomatous polyposis 1 [RCV000000855] Chr5:112836913..112908314 [GRCh38]
Chr5:112172610..112244011 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) microsatellite Adenomatous polyposis coli with congenital cholesteatoma [RCV000000858]|Carcinoma of colon [RCV000677779]|Colon adenocarcinoma [RCV000677780]|Colorectal cancer [RCV001199306]|Familial adenomatous polyposis 1 [RCV000000856]|Familial adenomatous polyposis 1 [RCV003338376]|Familial adenomatous polyposis 1 [RCV003534303]|Familial multiple polyposis syndrome [RCV000844611]|Gardner syndrome [RCV000000857]|Gastric polyposis [RCV000626570]|Hereditary cancer-predisposing syndrome [RCV000128941]|not provided [RCV000202014] Chr5:112839515..112839519 [GRCh38]
Chr5:112175212..112175216 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4183A>T (p.Ser1395Cys) single nucleotide variant Hepatoblastoma [RCV000000859] Chr5:112839777 [GRCh38]
Chr5:112175474 [GRCh37]
Chr5:5q22.2		 pathogenic|other
NM_000038.6(APC):c.5942del (p.Asn1981fs) deletion Familial adenomatous polyposis 1 [RCV000000862] Chr5:112841535 [GRCh38]
Chr5:112177232 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) single nucleotide variant APC-Associated Polyposis Disorders [RCV001535784]|Adenomatous polyposis coli, susceptibility to [RCV000000864]|Breast cancer, susceptibility to [RCV000000865]|Breast carcinoma [RCV001554302]|Carcinoma of colon [RCV000722046]|Colorectal cancer [RCV001195214]|Colorectal cancer, susceptibility to [RCV000210085]|Familial adenomatous polyposis 1 [RCV000020088]|Familial adenomatous polyposis 1 [RCV003650351]|Familial colorectal cancer [RCV001824556]|Familial multiple polyposis syndrome [RCV000238802]|Hereditary cancer-predisposing syndrome [RCV000115087]|not provided [RCV000034388]|not specified [RCV000120049] Chr5:112839514 [GRCh38]
Chr5:112175211 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|risk factor|association|established risk allele|benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) deletion Desmoid disease, hereditary [RCV003227591]|Familial adenomatous polyposis 1 [RCV002512626]|Familial adenomatous polyposis 1 [RCV003335008]|Gardner syndrome [RCV000000866]|Hereditary cancer-predisposing syndrome [RCV002336071]|not provided [RCV001781152] Chr5:112840205..112840206 [GRCh38]
Chr5:112175902..112175903 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1495C>T (p.Arg499Ter) single nucleotide variant APC-Associated Polyposis Disorders [RCV003483421]|Carcinoma of colon [RCV001353679]|Familial adenomatous polyposis 1 [RCV000204796]|Familial adenomatous polyposis 1 [RCV002227979]|Familial multiple polyposis syndrome [RCV000499412]|Gardner syndrome [RCV000000867]|Hereditary cancer-predisposing syndrome [RCV000491830]|not provided [RCV000521676] Chr5:112827194 [GRCh38]
Chr5:112162891 [GRCh37]
Chr5:5q22.2		 pathogenic|not provided
NM_000038.6(APC):c.1311_1312+1del deletion Familial adenomatous polyposis 1 [RCV000000869] Chr5:112819343..112819345 [GRCh38]
Chr5:112155040..112155042 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.1098_1099delCT (p.Ser367Cysfs) deletion Adenomatous polyposis coli [RCV000000870]|Familial adenomatous polyposis 1 [RCV000000870] Chr5:112819130..112819131 [GRCh38]
Chr5:112154827..112154828 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1192_1193del (p.Lys398fs) deletion Familial adenomatous polyposis 1 [RCV000000871]|Familial adenomatous polyposis 1 [RCV003534306]|Hereditary cancer-predisposing syndrome [RCV001010266]|not provided [RCV000159588] Chr5:112819224..112819225 [GRCh38]
Chr5:112154921..112154922 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) single nucleotide variant APC-Associated Polyposis Disorders [RCV000322880]|Carcinoma of colon [RCV001353725]|Familial adenomatous polyposis 1 [RCV000000872]|Familial adenomatous polyposis 1 [RCV002286387]|Familial adenomatous polyposis 1 [RCV003650352]|Hereditary cancer-predisposing syndrome [RCV000579405]|not provided [RCV000034389]|not specified [RCV000035073] Chr5:112839543 [GRCh38]
Chr5:112175240 [GRCh37]
Chr5:5q22.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000038.6(APC):c.937_938del (p.Glu313fs) deletion Familial adenomatous polyposis 1 [RCV000000874]|Familial adenomatous polyposis 1 [RCV003337229]|Familial multiple polyposis syndrome [RCV000659272]|Hereditary cancer-predisposing syndrome [RCV000772639]|not provided [RCV000325868] Chr5:112818969..112818970 [GRCh38]
Chr5:112154666..112154667 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2093T>A (p.Leu698Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001310095]|Gardner syndrome [RCV000000875] Chr5:112837687 [GRCh38]
Chr5:112173384 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.423-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000000878]|Familial adenomatous polyposis 1 [RCV003337230]|Hereditary cancer-predisposing syndrome [RCV000491238]|not provided [RCV000502154] Chr5:112775628 [GRCh38]
Chr5:112111325 [GRCh37]
Chr5:5q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.622C>T (p.Gln208Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335009]|Familial adenomatous polyposis 1 [RCV003534307]|Gardner syndrome [RCV000000882]|Hereditary cancer-predisposing syndrome [RCV000491262] Chr5:112780880 [GRCh38]
Chr5:112116577 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1695del (p.Val566fs) deletion Hepatocellular carcinoma [RCV000000883] Chr5:112828923 [GRCh38]
Chr5:112164620 [GRCh37]
Chr5:5q22.2		 pathogenic|other
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650353]|Hereditary cancer-predisposing syndrome [RCV000162586]|not provided [RCV000034381]|not specified [RCV001268977] Chr5:112838032 [GRCh38]
Chr5:112173729 [GRCh37]
Chr5:5q22.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV000400276]|Carcinoma of colon [RCV001353782]|Familial adenomatous polyposis 1 [RCV000204735]|Familial adenomatous polyposis 1 [RCV003534313]|Familial multiple polyposis syndrome [RCV000659276]|Hereditary cancer-predisposing syndrome [RCV000157720]|not provided [RCV000034382]|not specified [RCV000035068] Chr5:112838202 [GRCh38]
Chr5:112173899 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409913]|Familial adenomatous polyposis 1 [RCV003315544]|Hereditary cancer-predisposing syndrome [RCV000164189]|not provided [RCV000034383]|not specified [RCV001174835] Chr5:112838271 [GRCh38]
Chr5:112173968 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV000393833]|Carcinoma of colon [RCV001353808]|Familial adenomatous polyposis 1 [RCV000196915]|Familial adenomatous polyposis 1 [RCV003534314]|Familial multiple polyposis syndrome [RCV000203169]|Hereditary cancer-predisposing syndrome [RCV000115083]|not provided [RCV000034384]|not specified [RCV000077988] Chr5:112838980 [GRCh38]
Chr5:112174677 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|no classifications from unflagged records|not provided
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) single nucleotide variant APC-related condition [RCV003407396]|Colorectal adenoma [RCV000148371]|Familial adenomatous polyposis 1 [RCV000204291]|Familial adenomatous polyposis 1 [RCV003534315]|Hereditary cancer-predisposing syndrome [RCV000130655]|not provided [RCV000034385]|not specified [RCV000235094] Chr5:112839073 [GRCh38]
Chr5:112174770 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.379A>G (p.Ser127Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410052]|Familial adenomatous polyposis 1 [RCV003650354]|Hereditary cancer-predisposing syndrome [RCV000167102]|not provided [RCV000034386]|not specified [RCV003155048] Chr5:112767347 [GRCh38]
Chr5:112103044 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.388A>G (p.Ser130Gly) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155264]|APC-related condition [RCV003944873]|Familial adenomatous polyposis 1 [RCV000122775]|Familial adenomatous polyposis 1 [RCV003743546]|Familial multiple polyposis syndrome [RCV000417265]|Hereditary cancer-predisposing syndrome [RCV000129715]|not provided [RCV000034387]|not specified [RCV000211891] Chr5:112767356 [GRCh38]
Chr5:112103053 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.4384A>G (p.Lys1462Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534316]|Hereditary cancer-predisposing syndrome [RCV001179592]|not provided [RCV000034390] Chr5:112839978 [GRCh38]
Chr5:112175675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5170C>G (p.Leu1724Val) single nucleotide variant not provided [RCV000034391] Chr5:112840764 [GRCh38]
Chr5:112176461 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5225G>A (p.Arg1742His) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151699]|Familial adenomatous polyposis 1 [RCV000119236]|Familial adenomatous polyposis 1 [RCV003650355]|Hereditary cancer-predisposing syndrome [RCV000163663]|not provided [RCV000034392] Chr5:112840819 [GRCh38]
Chr5:112176516 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.607C>G (p.Gln203Glu) single nucleotide variant APC-Associated Polyposis Disorders [RCV001156934]|Desmoid disease, hereditary [RCV000709878]|Familial adenomatous polyposis 1 [RCV000987552]|Familial adenomatous polyposis 1 [RCV003534317]|Familial multiple polyposis syndrome [RCV000757929]|Hereditary cancer-predisposing syndrome [RCV000115109]|not provided [RCV000034394]|not specified [RCV000120051] Chr5:112780865 [GRCh38]
Chr5:112116562 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151801]|APC-related condition [RCV003944874]|Carcinoma of colon [RCV001353961]|Desmoid disease, hereditary [RCV000515374]|Familial adenomatous polyposis 1 [RCV000987580]|Familial adenomatous polyposis 1 [RCV003534318]|Familial multiple polyposis syndrome [RCV000664301]|Hereditary cancer-predisposing syndrome [RCV000115114]|not provided [RCV000034395]|not specified [RCV000211930] Chr5:112842318 [GRCh38]
Chr5:112178015 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) single nucleotide variant APC-Associated Polyposis Disorders [RCV000343531]|Carcinoma of colon [RCV001354019]|Desmoid disease, hereditary [RCV002504864]|Familial adenomatous polyposis 1 [RCV000119123]|Familial adenomatous polyposis 1 [RCV003743547]|Familial multiple polyposis syndrome [RCV000590867]|Hereditary cancer-predisposing syndrome [RCV000115115]|not provided [RCV000034396]|not specified [RCV000247116] Chr5:112842415 [GRCh38]
Chr5:112178112 [GRCh37]
Chr5:5q22.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV001153053]|Desmoid disease, hereditary [RCV000515182]|Familial adenomatous polyposis 1 [RCV001083312]|Familial adenomatous polyposis 1 [RCV003650356]|Hereditary cancer-predisposing syndrome [RCV000115118]|not provided [RCV000034397]|not specified [RCV000120030] Chr5:112842630 [GRCh38]
Chr5:112178327 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) single nucleotide variant APC-Associated Polyposis Disorders [RCV000408370]|Familial adenomatous polyposis 1 [RCV000122799]|Familial adenomatous polyposis 1 [RCV002228086]|Hereditary cancer-predisposing syndrome [RCV000164132]|not provided [RCV000034398]|not specified [RCV000235447] Chr5:112843009 [GRCh38]
Chr5:112178706 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV000307201]|Carcinoma of colon [RCV001353410]|Familial adenomatous polyposis 1 [RCV003315545]|Familial multiple polyposis syndrome [RCV000239067]|Hereditary cancer-predisposing syndrome [RCV000157722]|not provided [RCV000034399]|not specified [RCV000077994] Chr5:112843098 [GRCh38]
Chr5:112178795 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000200515]|Familial adenomatous polyposis 1 [RCV003650357]|Hereditary cancer-predisposing syndrome [RCV000129389]|not provided [RCV000034400] Chr5:112843360 [GRCh38]
Chr5:112179057 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) single nucleotide variant APC-Associated Polyposis Disorders [RCV000367966]|Carcinoma of colon [RCV001353889]|Familial adenomatous polyposis 1 [RCV000987588]|Hereditary cancer-predisposing syndrome [RCV000130974]|not provided [RCV000034401]|not specified [RCV000077995] Chr5:112843456 [GRCh38]
Chr5:112179153 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409244]|Familial adenomatous polyposis 1 [RCV003534319]|Hereditary cancer-predisposing syndrome [RCV000115124]|not provided [RCV000034402]|not specified [RCV000254630] Chr5:112843482 [GRCh38]
Chr5:112179179 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000472427]|Familial adenomatous polyposis 1 [RCV002228091]|Hereditary cancer-predisposing syndrome [RCV000564391]|not provided [RCV000034403]|not specified [RCV000780856] Chr5:112827194 [GRCh38]
Chr5:112162891 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) single nucleotide variant APC-related condition [RCV003904891]|Familial adenomatous polyposis 1 [RCV000144567]|Hereditary cancer-predisposing syndrome [RCV000159535]|not provided [RCV000034404]|not specified [RCV000035065] Chr5:112827984 [GRCh38]
Chr5:112163681 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) single nucleotide variant APC-Associated Polyposis Disorders [RCV001154528]|Carcinoma of colon [RCV001353623]|Familial adenomatous polyposis 1 [RCV000987559]|Familial adenomatous polyposis 1 [RCV003743548]|Hereditary cancer-predisposing syndrome [RCV000131638]|not provided [RCV000034405]|not specified [RCV000211900] Chr5:112828860 [GRCh38]
Chr5:112164557 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.2204C>T (p.Ala735Val) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210149]|Familial adenomatous polyposis 1 [RCV000198399]|Familial adenomatous polyposis 1 [RCV003650358]|Familial multiple polyposis syndrome [RCV000417343]|Hereditary cancer-predisposing syndrome [RCV000131447]|Neoplasm of the liver [RCV000677783]|not provided [RCV000034406]|not specified [RCV000254627] Chr5:112837798 [GRCh38]
Chr5:112173495 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.2297C>T (p.Ala766Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000199077]|Familial adenomatous polyposis 1 [RCV003315546]|Hereditary cancer-predisposing syndrome [RCV000562498]|not provided [RCV000034407]|not specified [RCV000779709] Chr5:112837891 [GRCh38]
Chr5:112173588 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) single nucleotide variant APC-Associated Polyposis Disorders [RCV000350760]|Familial adenomatous polyposis 1 [RCV000168362]|Familial adenomatous polyposis 1 [RCV003743549]|Hereditary cancer [RCV003492324]|Hereditary cancer-predisposing syndrome [RCV000115079]|not provided [RCV000034408]|not specified [RCV000120013] Chr5:112838767 [GRCh38]
Chr5:112174464 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000038.6(APC):c.317G>A (p.Arg106His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410470]|Familial adenomatous polyposis 1 [RCV003315547]|Familial multiple polyposis syndrome [RCV000659270]|Hereditary cancer-predisposing syndrome [RCV000565565]|not provided [RCV000034409]|not specified [RCV000455267] Chr5:112767285 [GRCh38]
Chr5:112102982 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) single nucleotide variant APC-Associated Polyposis Disorders [RCV001253953]|Familial adenomatous polyposis 1 [RCV003743550]|Hereditary cancer-predisposing syndrome [RCV000129075]|not provided [RCV000034410] Chr5:112838843 [GRCh38]
Chr5:112174540 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) single nucleotide variant APC-Associated Polyposis Disorders [RCV001253954]|APC-related condition [RCV003924891]|Familial adenomatous polyposis 1 [RCV003743551]|Hereditary cancer-predisposing syndrome [RCV000129162]|not provided [RCV000034411]|not specified [RCV000200963] Chr5:112838946 [GRCh38]
Chr5:112174643 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) microsatellite APC-Associated Polyposis Disorders [RCV000300515]|Familial adenomatous polyposis 1 [RCV000144564]|Familial multiple polyposis syndrome [RCV000239004]|Hereditary cancer-predisposing syndrome [RCV000115084]|not provided [RCV000034412]|not specified [RCV000254628] Chr5:112839054..112839056 [GRCh38]
Chr5:112174751..112174753 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.3584T>C (p.Phe1195Ser) single nucleotide variant not provided [RCV000034413] Chr5:112839178 [GRCh38]
Chr5:112174875 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.420G>C (p.Glu140Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409727]|Familial adenomatous polyposis 1 [RCV003534320]|Hereditary cancer-predisposing syndrome [RCV000579781]|not provided [RCV000034414]|not specified [RCV003317056] Chr5:112767388 [GRCh38]
Chr5:112103085 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) single nucleotide variant Desmoid disease, hereditary [RCV000515179]|Familial adenomatous polyposis 1 [RCV000196865]|Familial adenomatous polyposis 1 [RCV003315548]|Familial adenomatous polyposis 1 [RCV003743552]|Hereditary cancer [RCV003492325]|Hereditary cancer-predisposing syndrome [RCV000159555]|not provided [RCV000034415] Chr5:112839966 [GRCh38]
Chr5:112175663 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4375_4377del (p.Thr1459del) deletion Familial adenomatous polyposis 1 [RCV002228103]|Familial adenomatous polyposis 1 [RCV003473250]|Hereditary cancer-predisposing syndrome [RCV000567010]|not provided [RCV000034416] Chr5:112839967..112839969 [GRCh38]
Chr5:112175664..112175666 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000167996]|Familial adenomatous polyposis 1 [RCV003315549]|Hereditary cancer-predisposing syndrome [RCV000491791]|not provided [RCV000034417]|not specified [RCV000035077] Chr5:112840986 [GRCh38]
Chr5:112176683 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.53T>A (p.Met18Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002513338]|Hereditary cancer-predisposing syndrome [RCV000130887]|not provided [RCV000034418] Chr5:112754943 [GRCh38]
Chr5:112090640 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6873A>T (p.Gln2291His) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151804]|Carcinoma of colon [RCV001353490]|Familial adenomatous polyposis 1 [RCV000168325]|Familial adenomatous polyposis 1 [RCV003743553]|Hereditary cancer-predisposing syndrome [RCV000131637]|not provided [RCV000034419]|not specified [RCV000211931] Chr5:112842467 [GRCh38]
Chr5:112178164 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.695G>A (p.Arg232Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000472572]|Familial adenomatous polyposis 1 [RCV002228107]|Hereditary cancer-predisposing syndrome [RCV000490876]|not provided [RCV000034420] Chr5:112792495 [GRCh38]
Chr5:112128192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) single nucleotide variant Colorectal adenoma [RCV000148373]|Familial adenomatous polyposis 1 [RCV000122803]|Familial adenomatous polyposis 1 [RCV003650359]|Hereditary cancer-predisposing syndrome [RCV000163980]|not provided [RCV000034421]|not specified [RCV000236063] Chr5:112843311 [GRCh38]
Chr5:112179008 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile) single nucleotide variant Desmoid disease, hereditary [RCV002482949]|Familial adenomatous polyposis 1 [RCV002513339]|Hereditary cancer-predisposing syndrome [RCV000570424]|not provided [RCV000034422] Chr5:112843351 [GRCh38]
Chr5:112179048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8459C>T (p.Thr2820Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743554]|Hereditary cancer-predisposing syndrome [RCV001017822]|not provided [RCV000034423] Chr5:112844053 [GRCh38]
Chr5:112179750 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1458T>C (p.Tyr486=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000275522]|Carcinoma of colon [RCV001353619]|Desmoid disease, hereditary [RCV000755636]|Familial adenomatous polyposis 1 [RCV003148640]|Familial colorectal cancer [RCV000074147]|Hereditary cancer-predisposing syndrome [RCV000131423]|not provided [RCV001675589]|not specified [RCV000035064] Chr5:112827157 [GRCh38]
Chr5:112162854 [GRCh37]
Chr5:112190753 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.1635G>A (p.Ala545=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000375983]|Carcinoma of colon [RCV001353616]|Familial adenomatous polyposis 1 [RCV000411329]|Familial colorectal cancer [RCV000074153]|Hereditary cancer-predisposing syndrome [RCV000162371]|not provided [RCV001705642]|not specified [RCV000035066] Chr5:112828864 [GRCh38]
Chr5:112164561 [GRCh37]
Chr5:112192460 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.3162del (p.His1054fs) deletion Familial multiple polyposis syndrome [RCV000035070] Chr5:112838756 [GRCh38]
Chr5:112174453 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4479G>A (p.Thr1493=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000383485]|Carcinoma of colon [RCV001353469]|Desmoid disease, hereditary [RCV002496525]|Familial adenomatous polyposis 1 [RCV003315552]|Familial colorectal cancer [RCV000074234]|Hereditary cancer-predisposing syndrome [RCV000162372]|not provided [RCV001636617]|not specified [RCV000035071] Chr5:112840073 [GRCh38]
Chr5:112175770 [GRCh37]
Chr5:112203669 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.5034G>A (p.Gly1678=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000390083]|Carcinoma of colon [RCV001353674]|Familial adenomatous polyposis 1 [RCV003315553]|Familial colorectal cancer [RCV000074235]|Hereditary cancer-predisposing syndrome [RCV000162373]|not provided [RCV001527958]|not specified [RCV000035074] Chr5:112840628 [GRCh38]
Chr5:112176325 [GRCh37]
Chr5:112204224 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.5265G>A (p.Ala1755=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000298427]|Familial adenomatous polyposis 1 [RCV003650360]|Hereditary cancer-predisposing syndrome [RCV000128954]|not provided [RCV000513120]|not specified [RCV000035075] Chr5:112840859 [GRCh38]
Chr5:112176556 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.5268T>G (p.Ser1756=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000359973]|Carcinoma of colon [RCV001353960]|Familial adenomatous polyposis 1 [RCV003315554]|Familial colorectal cancer [RCV000074236]|Hereditary cancer-predisposing syndrome [RCV000162374]|not provided [RCV001536876]|not specified [RCV000035076] Chr5:112840862 [GRCh38]
Chr5:112176559 [GRCh37]
Chr5:112204458 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.5645G>C (p.Arg1882Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764659]|not specified [RCV000035079] Chr5:112841239 [GRCh38]
Chr5:112176936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5880G>A (p.Pro1960=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000270059]|Carcinoma of colon [RCV001353816]|Familial adenomatous polyposis 1 [RCV002228118]|Familial adenomatous polyposis 1 [RCV003764660]|Familial colorectal cancer [RCV000074242]|Hereditary cancer-predisposing syndrome [RCV000162375]|not provided [RCV001618222]|not specified [RCV000035080] Chr5:112841474 [GRCh38]
Chr5:112177171 [GRCh37]
Chr5:112205070 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.694C>T (p.Arg232Ter) single nucleotide variant Desmoid disease, hereditary [RCV000763537]|Familial adenomatous polyposis 1 [RCV000035081]|Familial adenomatous polyposis 1 [RCV002288530]|Familial adenomatous polyposis 1 [RCV003335063]|Familial multiple polyposis syndrome [RCV000844606]|Hereditary cancer-predisposing syndrome [RCV000491782]|not provided [RCV000486263] Chr5:112792494 [GRCh38]
Chr5:112128191 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7201C>T (p.Leu2401=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000303809]|Carcinoma of colon [RCV001353597]|Familial adenomatous polyposis 1 [RCV002513347]|Familial adenomatous polyposis 1 [RCV003650361]|Hereditary cancer-predisposing syndrome [RCV000128900]|not provided [RCV000755461]|not specified [RCV000035082] Chr5:112842795 [GRCh38]
Chr5:112178492 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.7704A>G (p.Gly2568=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000364239]|Familial adenomatous polyposis 1 [RCV000756996]|Familial adenomatous polyposis 1 [RCV002228119]|Hereditary cancer-predisposing syndrome [RCV000128887]|not provided [RCV001650857]|not specified [RCV000035083] Chr5:112843298 [GRCh38]
Chr5:112178995 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.896_897del (p.Ser299fs) microsatellite Familial adenomatous polyposis 1 [RCV002513348]|Familial adenomatous polyposis 1 [RCV003743555]|Familial multiple polyposis syndrome [RCV000844607]|Hereditary cancer-predisposing syndrome [RCV000491911]|not provided [RCV000759452] Chr5:112815554..112815555 [GRCh38]
Chr5:112151251..112151252 [GRCh37]
Chr5:5q22.2		 pathogenic
GRCh38/hg38 5q22.2(chr5:112838409-112934061)x1 copy number loss See cases [RCV000050967] Chr5:112838409..112934061 [GRCh38]
Chr5:112174106..112269758 [GRCh37]
Chr5:112202005..112297657 [NCBI36]
Chr5:5q22.2		 uncertain significance
GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3 copy number gain See cases [RCV000051841] Chr5:96454445..114050905 [GRCh38]
Chr5:95790149..113386602 [GRCh37]
Chr5:95815905..113414501 [NCBI36]
Chr5:5q15-22.3		 pathogenic
GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1 copy number loss See cases [RCV000053523] Chr5:102373396..113594030 [GRCh38]
Chr5:101709100..112929727 [GRCh37]
Chr5:101736999..112957626 [NCBI36]
Chr5:5q21.1-22.2		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
NM_000038.6(APC):c.-18-4405T>A single nucleotide variant Familial colorectal cancer [RCV000073788] Chr5:112750468 [GRCh38]
Chr5:112086165 [GRCh37]
Chr5:112114064 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-3696C>T single nucleotide variant Familial colorectal cancer [RCV000073789] Chr5:112751177 [GRCh38]
Chr5:112086874 [GRCh37]
Chr5:112114773 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-3243T>G single nucleotide variant Familial colorectal cancer [RCV000073790] Chr5:112751630 [GRCh38]
Chr5:112087327 [GRCh37]
Chr5:112115226 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-3206C>A single nucleotide variant Familial colorectal cancer [RCV000073791] Chr5:112751667 [GRCh38]
Chr5:112087364 [GRCh37]
Chr5:112115263 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-2858T>C single nucleotide variant Familial colorectal cancer [RCV000073792] Chr5:112752015 [GRCh38]
Chr5:112087712 [GRCh37]
Chr5:112115611 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-2634C>A single nucleotide variant Familial colorectal cancer [RCV000073793] Chr5:112752239 [GRCh38]
Chr5:112087936 [GRCh37]
Chr5:112115835 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-2625C>A single nucleotide variant Familial colorectal cancer [RCV000073794] Chr5:112752248 [GRCh38]
Chr5:112087945 [GRCh37]
Chr5:112115844 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-2126C>G single nucleotide variant Familial colorectal cancer [RCV000073795] Chr5:112752747 [GRCh38]
Chr5:112088444 [GRCh37]
Chr5:112116343 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-2063G>A single nucleotide variant Familial colorectal cancer [RCV000073796] Chr5:112752810 [GRCh38]
Chr5:112088507 [GRCh37]
Chr5:112116406 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-1966T>G single nucleotide variant Familial colorectal cancer [RCV000073797] Chr5:112752907 [GRCh38]
Chr5:112088604 [GRCh37]
Chr5:112116503 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-1288T>C single nucleotide variant Familial colorectal cancer [RCV000073798] Chr5:112753585 [GRCh38]
Chr5:112089282 [GRCh37]
Chr5:112117181 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-1121C>T single nucleotide variant Familial colorectal cancer [RCV000073799] Chr5:112753752 [GRCh38]
Chr5:112089449 [GRCh37]
Chr5:112117348 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-1090T>C single nucleotide variant Familial colorectal cancer [RCV000073800] Chr5:112753783 [GRCh38]
Chr5:112089480 [GRCh37]
Chr5:112117379 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-966G>T single nucleotide variant Familial colorectal cancer [RCV000073801] Chr5:112753907 [GRCh38]
Chr5:112089604 [GRCh37]
Chr5:112117503 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-807C>A single nucleotide variant Familial colorectal cancer [RCV000073802] Chr5:112754066 [GRCh38]
Chr5:112089763 [GRCh37]
Chr5:112117662 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-398A>C single nucleotide variant Familial colorectal cancer [RCV000073803] Chr5:112754475 [GRCh38]
Chr5:112090172 [GRCh37]
Chr5:112118071 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-396T>A single nucleotide variant Familial colorectal cancer [RCV000073804] Chr5:112754477 [GRCh38]
Chr5:112090174 [GRCh37]
Chr5:112118073 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-251G>A single nucleotide variant Familial colorectal cancer [RCV000073805] Chr5:112754622 [GRCh38]
Chr5:112090319 [GRCh37]
Chr5:112118218 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-250C>G single nucleotide variant Familial colorectal cancer [RCV000073806] Chr5:112754623 [GRCh38]
Chr5:112090320 [GRCh37]
Chr5:112118219 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-151G>T single nucleotide variant Familial colorectal cancer [RCV000073807] Chr5:112754722 [GRCh38]
Chr5:112090419 [GRCh37]
Chr5:112118318 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-136G>T single nucleotide variant Familial colorectal cancer [RCV000073808] Chr5:112754737 [GRCh38]
Chr5:112090434 [GRCh37]
Chr5:112118333 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-56C>A single nucleotide variant Familial colorectal cancer [RCV000073809] Chr5:112754817 [GRCh38]
Chr5:112090514 [GRCh37]
Chr5:112118413 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-53G>C single nucleotide variant Familial colorectal cancer [RCV000073810] Chr5:112754820 [GRCh38]
Chr5:112090517 [GRCh37]
Chr5:112118416 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+610G>T single nucleotide variant Familial colorectal cancer [RCV000073811] Chr5:112755635 [GRCh38]
Chr5:112091332 [GRCh37]
Chr5:112119231 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+982C>G single nucleotide variant Familial colorectal cancer [RCV000073812] Chr5:112756007 [GRCh38]
Chr5:112091704 [GRCh37]
Chr5:112119603 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+1680T>G single nucleotide variant Familial colorectal cancer [RCV000073813] Chr5:112756705 [GRCh38]
Chr5:112092402 [GRCh37]
Chr5:112120301 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3577G>C single nucleotide variant Familial colorectal cancer [RCV000073814] Chr5:112758602 [GRCh38]
Chr5:112094299 [GRCh37]
Chr5:112122198 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3578C>A single nucleotide variant Familial colorectal cancer [RCV000073815] Chr5:112758603 [GRCh38]
Chr5:112094300 [GRCh37]
Chr5:112122199 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3580T>G single nucleotide variant Familial colorectal cancer [RCV000073816] Chr5:112758605 [GRCh38]
Chr5:112094302 [GRCh37]
Chr5:112122201 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3583G>C single nucleotide variant Familial colorectal cancer [RCV000073817] Chr5:112758608 [GRCh38]
Chr5:112094305 [GRCh37]
Chr5:112122204 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3682G>A single nucleotide variant Familial colorectal cancer [RCV000073818] Chr5:112758707 [GRCh38]
Chr5:112094404 [GRCh37]
Chr5:112122303 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3821A>C single nucleotide variant Familial colorectal cancer [RCV000073819] Chr5:112758846 [GRCh38]
Chr5:112094543 [GRCh37]
Chr5:112122442 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+4410G>T single nucleotide variant Familial colorectal cancer [RCV000073820] Chr5:112759435 [GRCh38]
Chr5:112095132 [GRCh37]
Chr5:112123031 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+4610G>A single nucleotide variant Familial colorectal cancer [RCV000073821] Chr5:112759635 [GRCh38]
Chr5:112095332 [GRCh37]
Chr5:112123231 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+4611T>G single nucleotide variant Familial colorectal cancer [RCV000073822] Chr5:112759636 [GRCh38]
Chr5:112095333 [GRCh37]
Chr5:112123232 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+4777T>A single nucleotide variant Familial colorectal cancer [RCV000073823] Chr5:112759802 [GRCh38]
Chr5:112095499 [GRCh37]
Chr5:112123398 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+4782G>C single nucleotide variant Familial colorectal cancer [RCV000073824] Chr5:112759807 [GRCh38]
Chr5:112095504 [GRCh37]
Chr5:112123403 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+5053T>A single nucleotide variant Familial colorectal cancer [RCV000073825] Chr5:112760078 [GRCh38]
Chr5:112095775 [GRCh37]
Chr5:112123674 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-5501T>C single nucleotide variant Familial colorectal cancer [RCV000073826] Chr5:112760825 [GRCh38]
Chr5:112096522 [GRCh37]
Chr5:112124421 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-5236T>G single nucleotide variant Familial colorectal cancer [RCV000073827] Chr5:112761090 [GRCh38]
Chr5:112096787 [GRCh37]
Chr5:112124686 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-5233G>C single nucleotide variant Familial colorectal cancer [RCV000073828] Chr5:112761093 [GRCh38]
Chr5:112096790 [GRCh37]
Chr5:112124689 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-4789G>A single nucleotide variant Familial colorectal cancer [RCV000073829] Chr5:112761537 [GRCh38]
Chr5:112097234 [GRCh37]
Chr5:112125133 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-4684C>T single nucleotide variant Familial colorectal cancer [RCV000073830] Chr5:112761642 [GRCh38]
Chr5:112097339 [GRCh37]
Chr5:112125238 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-4681G>T single nucleotide variant Familial colorectal cancer [RCV000073831] Chr5:112761645 [GRCh38]
Chr5:112097342 [GRCh37]
Chr5:112125241 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-4266A>G single nucleotide variant Familial colorectal cancer [RCV000073832] Chr5:112762060 [GRCh38]
Chr5:112097757 [GRCh37]
Chr5:112125656 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-3456A>T single nucleotide variant Familial colorectal cancer [RCV000073833] Chr5:112762870 [GRCh38]
Chr5:112098567 [GRCh37]
Chr5:112126466 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-3112G>A single nucleotide variant Familial colorectal cancer [RCV000073834] Chr5:112763214 [GRCh38]
Chr5:112098911 [GRCh37]
Chr5:112126810 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-3085T>A single nucleotide variant Familial colorectal cancer [RCV000073835] Chr5:112763241 [GRCh38]
Chr5:112098938 [GRCh37]
Chr5:112126837 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2995A>G single nucleotide variant Familial colorectal cancer [RCV000073836] Chr5:112763331 [GRCh38]
Chr5:112099028 [GRCh37]
Chr5:112126927 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2963T>G single nucleotide variant Familial colorectal cancer [RCV000073837] Chr5:112763363 [GRCh38]
Chr5:112099060 [GRCh37]
Chr5:112126959 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2954T>C single nucleotide variant Familial colorectal cancer [RCV000073838] Chr5:112763372 [GRCh38]
Chr5:112099069 [GRCh37]
Chr5:112126968 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2831A>T single nucleotide variant Familial colorectal cancer [RCV000073839] Chr5:112763495 [GRCh38]
Chr5:112099192 [GRCh37]
Chr5:112127091 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2830T>A single nucleotide variant Familial colorectal cancer [RCV000073840] Chr5:112763496 [GRCh38]
Chr5:112099193 [GRCh37]
Chr5:112127092 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2828T>A single nucleotide variant Familial colorectal cancer [RCV000073841] Chr5:112763498 [GRCh38]
Chr5:112099195 [GRCh37]
Chr5:112127094 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2827G>C single nucleotide variant Familial colorectal cancer [RCV000073842] Chr5:112763499 [GRCh38]
Chr5:112099196 [GRCh37]
Chr5:112127095 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2527G>A single nucleotide variant Familial colorectal cancer [RCV000073843] Chr5:112763799 [GRCh38]
Chr5:112099496 [GRCh37]
Chr5:112127395 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2358T>G single nucleotide variant Familial colorectal cancer [RCV000073844] Chr5:112763968 [GRCh38]
Chr5:112099665 [GRCh37]
Chr5:112127564 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2355C>G single nucleotide variant Familial colorectal cancer [RCV000073845] Chr5:112763971 [GRCh38]
Chr5:112099668 [GRCh37]
Chr5:112127567 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2230A>T single nucleotide variant Familial colorectal cancer [RCV000073846] Chr5:112764096 [GRCh38]
Chr5:112099793 [GRCh37]
Chr5:112127692 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2228T>A single nucleotide variant Familial colorectal cancer [RCV000073847] Chr5:112764098 [GRCh38]
Chr5:112099795 [GRCh37]
Chr5:112127694 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1996G>A single nucleotide variant Familial colorectal cancer [RCV000073848] Chr5:112764330 [GRCh38]
Chr5:112100027 [GRCh37]
Chr5:112127926 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1966T>A single nucleotide variant Familial colorectal cancer [RCV000073849] Chr5:112764360 [GRCh38]
Chr5:112100057 [GRCh37]
Chr5:112127956 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1965A>G single nucleotide variant Familial colorectal cancer [RCV000073850] Chr5:112764361 [GRCh38]
Chr5:112100058 [GRCh37]
Chr5:112127957 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1728A>G single nucleotide variant Familial colorectal cancer [RCV000073851] Chr5:112764598 [GRCh38]
Chr5:112100295 [GRCh37]
Chr5:112128194 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1428A>C single nucleotide variant Familial colorectal cancer [RCV000073852] Chr5:112764898 [GRCh38]
Chr5:112100595 [GRCh37]
Chr5:112128494 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1084C>A single nucleotide variant Familial colorectal cancer [RCV000073853] Chr5:112765242 [GRCh38]
Chr5:112100939 [GRCh37]
Chr5:112128838 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1041T>G single nucleotide variant Familial colorectal cancer [RCV000073854] Chr5:112765285 [GRCh38]
Chr5:112100982 [GRCh37]
Chr5:112128881 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1001G>T single nucleotide variant Familial colorectal cancer [RCV000073855] Chr5:112765325 [GRCh38]
Chr5:112101022 [GRCh37]
Chr5:112128921 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-808G>T single nucleotide variant Familial colorectal cancer [RCV000073856] Chr5:112765518 [GRCh38]
Chr5:112101215 [GRCh37]
Chr5:112129114 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-566G>T single nucleotide variant Familial colorectal cancer [RCV000073857] Chr5:112765760 [GRCh38]
Chr5:112101457 [GRCh37]
Chr5:112129356 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-527G>A single nucleotide variant Familial colorectal cancer [RCV000073858] Chr5:112765799 [GRCh38]
Chr5:112101496 [GRCh37]
Chr5:112129395 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-350A>G single nucleotide variant Familial colorectal cancer [RCV000073859] Chr5:112765976 [GRCh38]
Chr5:112101673 [GRCh37]
Chr5:112129572 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-230C>A single nucleotide variant Familial colorectal cancer [RCV000073860]|not provided [RCV001610344] Chr5:112766096 [GRCh38]
Chr5:112101793 [GRCh37]
Chr5:112129692 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.136-220G>C single nucleotide variant Familial colorectal cancer [RCV000073861] Chr5:112766106 [GRCh38]
Chr5:112101803 [GRCh37]
Chr5:112129702 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-53T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003315585]|Familial colorectal cancer [RCV000073862]|not provided [RCV001610345]|not specified [RCV000202297] Chr5:112766273 [GRCh38]
Chr5:112101970 [GRCh37]
Chr5:112129869 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.185C>T (p.Ser62Phe) single nucleotide variant Familial colorectal cancer [RCV000073863] Chr5:112766375 [GRCh38]
Chr5:112102072 [GRCh37]
Chr5:112129971 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.190G>T (p.Gly64Ter) single nucleotide variant Familial colorectal cancer [RCV000073864]|not provided [RCV000499452] Chr5:112766380 [GRCh38]
Chr5:112102077 [GRCh37]
Chr5:112129976 [NCBI36]
Chr5:5q22.2		 pathogenic|uncertain significance|other
NM_000038.6(APC):c.311C>A (p.Ser104Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337231]|Familial colorectal cancer [RCV000073865] Chr5:112767279 [GRCh38]
Chr5:112102976 [GRCh37]
Chr5:112130875 [NCBI36]
Chr5:5q22.2		 pathogenic|other
NM_000038.6(APC):c.422+365C>A single nucleotide variant Familial colorectal cancer [RCV000073866] Chr5:112767755 [GRCh38]
Chr5:112103452 [GRCh37]
Chr5:112131351 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+876C>G single nucleotide variant Familial colorectal cancer [RCV000073867] Chr5:112768266 [GRCh38]
Chr5:112103963 [GRCh37]
Chr5:112131862 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1096C>A single nucleotide variant Familial colorectal cancer [RCV000073868] Chr5:112768486 [GRCh38]
Chr5:112104183 [GRCh37]
Chr5:112132082 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1210A>G single nucleotide variant Familial colorectal cancer [RCV000073869] Chr5:112768600 [GRCh38]
Chr5:112104297 [GRCh37]
Chr5:112132196 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1584T>C single nucleotide variant Familial colorectal cancer [RCV000073870] Chr5:112768974 [GRCh38]
Chr5:112104671 [GRCh37]
Chr5:112132570 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1942T>G single nucleotide variant Familial colorectal cancer [RCV000073871] Chr5:112769332 [GRCh38]
Chr5:112105029 [GRCh37]
Chr5:112132928 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+2121T>G single nucleotide variant Familial colorectal cancer [RCV000073872] Chr5:112769511 [GRCh38]
Chr5:112105208 [GRCh37]
Chr5:112133107 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+2136A>T single nucleotide variant Familial colorectal cancer [RCV000073873] Chr5:112769526 [GRCh38]
Chr5:112105223 [GRCh37]
Chr5:112133122 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+2447G>A single nucleotide variant Familial colorectal cancer [RCV000073874] Chr5:112769837 [GRCh38]
Chr5:112105534 [GRCh37]
Chr5:112133433 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+3533G>T single nucleotide variant Familial colorectal cancer [RCV000073875] Chr5:112770923 [GRCh38]
Chr5:112106620 [GRCh37]
Chr5:112134519 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+3971G>A single nucleotide variant Familial colorectal cancer [RCV000073876] Chr5:112771361 [GRCh38]
Chr5:112107058 [GRCh37]
Chr5:112134957 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+3997C>A single nucleotide variant Familial colorectal cancer [RCV000073877] Chr5:112771387 [GRCh38]
Chr5:112107084 [GRCh37]
Chr5:112134983 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-3600C>T single nucleotide variant Familial colorectal cancer [RCV000073878] Chr5:112772029 [GRCh38]
Chr5:112107726 [GRCh37]
Chr5:112135625 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-3307C>A single nucleotide variant Familial colorectal cancer [RCV000073879] Chr5:112772322 [GRCh38]
Chr5:112108019 [GRCh37]
Chr5:112135918 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-3167T>A single nucleotide variant Familial colorectal cancer [RCV000073880] Chr5:112772462 [GRCh38]
Chr5:112108159 [GRCh37]
Chr5:112136058 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-3166C>A single nucleotide variant Familial colorectal cancer [RCV000073881] Chr5:112772463 [GRCh38]
Chr5:112108160 [GRCh37]
Chr5:112136059 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-3162A>C single nucleotide variant Familial colorectal cancer [RCV000073882] Chr5:112772467 [GRCh38]
Chr5:112108164 [GRCh37]
Chr5:112136063 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-3029T>C single nucleotide variant Familial colorectal cancer [RCV000073883] Chr5:112772600 [GRCh38]
Chr5:112108297 [GRCh37]
Chr5:112136196 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-2829A>C single nucleotide variant Familial colorectal cancer [RCV000073884] Chr5:112772800 [GRCh38]
Chr5:112108497 [GRCh37]
Chr5:112136396 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-2461T>C single nucleotide variant Familial colorectal cancer [RCV000073885] Chr5:112773168 [GRCh38]
Chr5:112108865 [GRCh37]
Chr5:112136764 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-2396C>A single nucleotide variant Familial colorectal cancer [RCV000073886] Chr5:112773233 [GRCh38]
Chr5:112108930 [GRCh37]
Chr5:112136829 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-2365T>C single nucleotide variant Familial colorectal cancer [RCV000073887] Chr5:112773264 [GRCh38]
Chr5:112108961 [GRCh37]
Chr5:112136860 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-2364T>A single nucleotide variant Familial colorectal cancer [RCV000073888] Chr5:112773265 [GRCh38]
Chr5:112108962 [GRCh37]
Chr5:112136861 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-2361C>A single nucleotide variant Familial colorectal cancer [RCV000073889] Chr5:112773268 [GRCh38]
Chr5:112108965 [GRCh37]
Chr5:112136864 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-1547G>C single nucleotide variant Familial colorectal cancer [RCV000073890] Chr5:112774082 [GRCh38]
Chr5:112109779 [GRCh37]
Chr5:112137678 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-1515A>G single nucleotide variant Familial colorectal cancer [RCV000073891] Chr5:112774114 [GRCh38]
Chr5:112109811 [GRCh37]
Chr5:112137710 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-1514T>A single nucleotide variant Familial colorectal cancer [RCV000073892] Chr5:112774115 [GRCh38]
Chr5:112109812 [GRCh37]
Chr5:112137711 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-1511C>A single nucleotide variant Familial colorectal cancer [RCV000073893] Chr5:112774118 [GRCh38]
Chr5:112109815 [GRCh37]
Chr5:112137714 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-686G>T single nucleotide variant Familial colorectal cancer [RCV000073894] Chr5:112774943 [GRCh38]
Chr5:112110640 [GRCh37]
Chr5:112138539 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-680G>A single nucleotide variant Familial colorectal cancer [RCV000073895] Chr5:112774949 [GRCh38]
Chr5:112110646 [GRCh37]
Chr5:112138545 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-666G>A single nucleotide variant Familial colorectal cancer [RCV000073896] Chr5:112774963 [GRCh38]
Chr5:112110660 [GRCh37]
Chr5:112138559 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-455G>T single nucleotide variant Familial colorectal cancer [RCV000073897] Chr5:112775174 [GRCh38]
Chr5:112110871 [GRCh37]
Chr5:112138770 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-454G>T single nucleotide variant Familial colorectal cancer [RCV000073898] Chr5:112775175 [GRCh38]
Chr5:112110872 [GRCh37]
Chr5:112138771 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-256G>A single nucleotide variant Familial colorectal cancer [RCV000073899]|not provided [RCV001650888] Chr5:112775373 [GRCh38]
Chr5:112111070 [GRCh37]
Chr5:112138969 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.423-16A>T single nucleotide variant APC-related condition [RCV003974952]|Familial adenomatous polyposis 1 [RCV003315586]|Familial colorectal cancer [RCV000073900]|Hereditary cancer-predisposing syndrome [RCV000579652]|not specified [RCV000123675] Chr5:112775613 [GRCh38]
Chr5:112111310 [GRCh37]
Chr5:112139209 [NCBI36]
Chr5:5q22.2		 benign|likely benign|other
NM_000038.6(APC):c.531+29G>T single nucleotide variant Familial colorectal cancer [RCV000073901] Chr5:112775766 [GRCh38]
Chr5:112111463 [GRCh37]
Chr5:112139362 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+136G>T single nucleotide variant Familial colorectal cancer [RCV000073902] Chr5:112775873 [GRCh38]
Chr5:112111570 [GRCh37]
Chr5:112139469 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+171G>T single nucleotide variant Familial colorectal cancer [RCV000073903] Chr5:112775908 [GRCh38]
Chr5:112111605 [GRCh37]
Chr5:112139504 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+432G>C single nucleotide variant Familial colorectal cancer [RCV000073904] Chr5:112776169 [GRCh38]
Chr5:112111866 [GRCh37]
Chr5:112139765 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1125T>A single nucleotide variant Familial colorectal cancer [RCV000073905] Chr5:112776862 [GRCh38]
Chr5:112112559 [GRCh37]
Chr5:112140458 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1313C>G single nucleotide variant Familial colorectal cancer [RCV000073906] Chr5:112777050 [GRCh38]
Chr5:112112747 [GRCh37]
Chr5:112140646 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1317A>T single nucleotide variant Familial colorectal cancer [RCV000073907] Chr5:112777054 [GRCh38]
Chr5:112112751 [GRCh37]
Chr5:112140650 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1340C>T single nucleotide variant Familial colorectal cancer [RCV000073908] Chr5:112777077 [GRCh38]
Chr5:112112774 [GRCh37]
Chr5:112140673 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1421G>A single nucleotide variant Familial colorectal cancer [RCV000073909] Chr5:112777158 [GRCh38]
Chr5:112112855 [GRCh37]
Chr5:112140754 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1477G>T single nucleotide variant Familial colorectal cancer [RCV000073910] Chr5:112777214 [GRCh38]
Chr5:112112911 [GRCh37]
Chr5:112140810 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1517T>C single nucleotide variant Familial colorectal cancer [RCV000073911] Chr5:112777254 [GRCh38]
Chr5:112112951 [GRCh37]
Chr5:112140850 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1768C>A single nucleotide variant Familial colorectal cancer [RCV000073912] Chr5:112777505 [GRCh38]
Chr5:112113202 [GRCh37]
Chr5:112141101 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+2093A>T single nucleotide variant Familial colorectal cancer [RCV000073913] Chr5:112777830 [GRCh38]
Chr5:112113527 [GRCh37]
Chr5:112141426 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+2301C>T single nucleotide variant Familial colorectal cancer [RCV000073914] Chr5:112778038 [GRCh38]
Chr5:112113735 [GRCh37]
Chr5:112141634 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+2326T>C single nucleotide variant Familial colorectal cancer [RCV000073915] Chr5:112778063 [GRCh38]
Chr5:112113760 [GRCh37]
Chr5:112141659 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+2338G>A single nucleotide variant Familial colorectal cancer [RCV000073916] Chr5:112778075 [GRCh38]
Chr5:112113772 [GRCh37]
Chr5:112141671 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-2420C>G single nucleotide variant Familial colorectal cancer [RCV000073917] Chr5:112778370 [GRCh38]
Chr5:112114067 [GRCh37]
Chr5:112141966 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-2307G>A single nucleotide variant Familial colorectal cancer [RCV000073918] Chr5:112778483 [GRCh38]
Chr5:112114180 [GRCh37]
Chr5:112142079 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-1966T>G single nucleotide variant Familial colorectal cancer [RCV000073919] Chr5:112778824 [GRCh38]
Chr5:112114521 [GRCh37]
Chr5:112142420 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-1772G>T single nucleotide variant Familial colorectal cancer [RCV000073920] Chr5:112779018 [GRCh38]
Chr5:112114715 [GRCh37]
Chr5:112142614 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.4199C>T (p.Ser1400Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764745]|Hereditary cancer-predisposing syndrome [RCV000575487] Chr5:112839793 [GRCh38]
Chr5:112175490 [GRCh37]
Chr5:112203389 [NCBI36]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.7865C>T (p.Pro2622Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000662519]|Familial adenomatous polyposis 1 [RCV003650363] Chr5:112843459 [GRCh38]
Chr5:112179156 [GRCh37]
Chr5:112207055 [NCBI36]
Chr5:5q22.2		 uncertain significance|not provided
NM_001127511.3(APC):c.165+20015G>T single nucleotide variant Familial colorectal cancer [RCV000073277] Chr5:112727897 [GRCh38]
Chr5:112063594 [GRCh37]
Chr5:112091493 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20528G>C single nucleotide variant Familial colorectal cancer [RCV000073278] Chr5:112728410 [GRCh38]
Chr5:112064107 [GRCh37]
Chr5:112092006 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20534G>C single nucleotide variant Familial colorectal cancer [RCV000073279] Chr5:112728416 [GRCh38]
Chr5:112064113 [GRCh37]
Chr5:112092012 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20687A>G single nucleotide variant Familial colorectal cancer [RCV000073280] Chr5:112728569 [GRCh38]
Chr5:112064266 [GRCh37]
Chr5:112092165 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20758G>T single nucleotide variant Familial colorectal cancer [RCV000073281] Chr5:112728640 [GRCh38]
Chr5:112064337 [GRCh37]
Chr5:112092236 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20759T>G single nucleotide variant Familial colorectal cancer [RCV000073282] Chr5:112728641 [GRCh38]
Chr5:112064338 [GRCh37]
Chr5:112092237 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20760T>C single nucleotide variant Familial colorectal cancer [RCV000073283] Chr5:112728642 [GRCh38]
Chr5:112064339 [GRCh37]
Chr5:112092238 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20767T>G single nucleotide variant Familial colorectal cancer [RCV000073284] Chr5:112728649 [GRCh38]
Chr5:112064346 [GRCh37]
Chr5:112092245 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20821G>T single nucleotide variant Familial colorectal cancer [RCV000073285] Chr5:112728703 [GRCh38]
Chr5:112064400 [GRCh37]
Chr5:112092299 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+21162T>C single nucleotide variant Familial colorectal cancer [RCV000073286] Chr5:112729044 [GRCh38]
Chr5:112064741 [GRCh37]
Chr5:112092640 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+21163C>T single nucleotide variant Familial colorectal cancer [RCV000073287] Chr5:112729045 [GRCh38]
Chr5:112064742 [GRCh37]
Chr5:112092641 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+21707A>G single nucleotide variant Familial colorectal cancer [RCV000073288] Chr5:112729589 [GRCh38]
Chr5:112065286 [GRCh37]
Chr5:112093185 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+21708C>A single nucleotide variant Familial colorectal cancer [RCV000073289] Chr5:112729590 [GRCh38]
Chr5:112065287 [GRCh37]
Chr5:112093186 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+21747G>T single nucleotide variant Familial colorectal cancer [RCV000073290] Chr5:112729629 [GRCh38]
Chr5:112065326 [GRCh37]
Chr5:112093225 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+21803C>A single nucleotide variant Familial colorectal cancer [RCV000073291] Chr5:112729685 [GRCh38]
Chr5:112065382 [GRCh37]
Chr5:112093281 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+21909G>A single nucleotide variant Familial colorectal cancer [RCV000073292] Chr5:112729791 [GRCh38]
Chr5:112065488 [GRCh37]
Chr5:112093387 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+22188A>T single nucleotide variant Familial colorectal cancer [RCV000073293] Chr5:112730070 [GRCh38]
Chr5:112065767 [GRCh37]
Chr5:112093666 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+22544A>G single nucleotide variant Familial colorectal cancer [RCV000073294] Chr5:112730426 [GRCh38]
Chr5:112066123 [GRCh37]
Chr5:112094022 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+22819T>C single nucleotide variant Familial colorectal cancer [RCV000073295] Chr5:112730701 [GRCh38]
Chr5:112066398 [GRCh37]
Chr5:112094297 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+23451A>G single nucleotide variant Familial colorectal cancer [RCV000073296] Chr5:112731333 [GRCh38]
Chr5:112067030 [GRCh37]
Chr5:112094929 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+23937T>G single nucleotide variant Familial colorectal cancer [RCV000073297] Chr5:112731819 [GRCh38]
Chr5:112067516 [GRCh37]
Chr5:112095415 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+24001T>C single nucleotide variant Familial colorectal cancer [RCV000073298] Chr5:112731883 [GRCh38]
Chr5:112067580 [GRCh37]
Chr5:112095479 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+25278G>T single nucleotide variant Familial colorectal cancer [RCV000073299] Chr5:112733160 [GRCh38]
Chr5:112068857 [GRCh37]
Chr5:112096756 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26182A>C single nucleotide variant Familial colorectal cancer [RCV000073300] Chr5:112734064 [GRCh38]
Chr5:112069761 [GRCh37]
Chr5:112097660 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26227C>A single nucleotide variant Familial colorectal cancer [RCV000073301] Chr5:112734109 [GRCh38]
Chr5:112069806 [GRCh37]
Chr5:112097705 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26367A>G single nucleotide variant Familial colorectal cancer [RCV000073302] Chr5:112734249 [GRCh38]
Chr5:112069946 [GRCh37]
Chr5:112097845 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26388T>C single nucleotide variant Familial colorectal cancer [RCV000073303] Chr5:112734270 [GRCh38]
Chr5:112069967 [GRCh37]
Chr5:112097866 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26518G>A single nucleotide variant Familial colorectal cancer [RCV000073304] Chr5:112734400 [GRCh38]
Chr5:112070097 [GRCh37]
Chr5:112097996 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26855C>A single nucleotide variant Familial colorectal cancer [RCV000073305] Chr5:112734737 [GRCh38]
Chr5:112070434 [GRCh37]
Chr5:112098333 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26904T>G single nucleotide variant Familial colorectal cancer [RCV000073306] Chr5:112734786 [GRCh38]
Chr5:112070483 [GRCh37]
Chr5:112098382 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26989G>C single nucleotide variant Familial colorectal cancer [RCV000073307] Chr5:112734871 [GRCh38]
Chr5:112070568 [GRCh37]
Chr5:112098467 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+27024T>G single nucleotide variant Familial colorectal cancer [RCV000073308] Chr5:112734906 [GRCh38]
Chr5:112070603 [GRCh37]
Chr5:112098502 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+27250T>C single nucleotide variant Familial colorectal cancer [RCV000073309] Chr5:112735132 [GRCh38]
Chr5:112070829 [GRCh37]
Chr5:112098728 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+27966C>A single nucleotide variant Familial colorectal cancer [RCV000073310] Chr5:112735848 [GRCh38]
Chr5:112071545 [GRCh37]
Chr5:112099444 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+28050G>A single nucleotide variant Familial colorectal cancer [RCV000073311] Chr5:112735932 [GRCh38]
Chr5:112071629 [GRCh37]
Chr5:112099528 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+28770A>C single nucleotide variant Familial colorectal cancer [RCV000073312] Chr5:112736652 [GRCh38]
Chr5:112072349 [GRCh37]
Chr5:112100248 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+28811A>G single nucleotide variant Familial colorectal cancer [RCV000073313] Chr5:112736693 [GRCh38]
Chr5:112072390 [GRCh37]
Chr5:112100289 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28742A>C single nucleotide variant Familial colorectal cancer [RCV000073314] Chr5:112737584 [GRCh38]
Chr5:112073281 [GRCh37]
Chr5:112101180 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28627T>G single nucleotide variant Familial colorectal cancer [RCV000073315] Chr5:112737699 [GRCh38]
Chr5:112073396 [GRCh37]
Chr5:112101295 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28622T>G single nucleotide variant Familial colorectal cancer [RCV000073316] Chr5:112737704 [GRCh38]
Chr5:112073401 [GRCh37]
Chr5:112101300 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+49A>G single nucleotide variant Familial colorectal cancer [RCV000073317] Chr5:112737974 [GRCh38]
Chr5:112073671 [GRCh37]
Chr5:112101570 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+53T>G single nucleotide variant Familial colorectal cancer [RCV000073318] Chr5:112737978 [GRCh38]
Chr5:112073675 [GRCh37]
Chr5:112101574 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+561T>G single nucleotide variant Familial colorectal cancer [RCV000073319] Chr5:112738486 [GRCh38]
Chr5:112074183 [GRCh37]
Chr5:112102082 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+695C>T single nucleotide variant Familial colorectal cancer [RCV000073320] Chr5:112738620 [GRCh38]
Chr5:112074317 [GRCh37]
Chr5:112102216 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+904G>T single nucleotide variant Familial colorectal cancer [RCV000073321] Chr5:112738829 [GRCh38]
Chr5:112074526 [GRCh37]
Chr5:112102425 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+913G>T single nucleotide variant Familial colorectal cancer [RCV000073322] Chr5:112738838 [GRCh38]
Chr5:112074535 [GRCh37]
Chr5:112102434 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1265T>C single nucleotide variant Familial colorectal cancer [RCV000073323] Chr5:112739190 [GRCh38]
Chr5:112074887 [GRCh37]
Chr5:112102786 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1838G>A single nucleotide variant Familial colorectal cancer [RCV000073324] Chr5:112739763 [GRCh38]
Chr5:112075460 [GRCh37]
Chr5:112103359 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1872G>T single nucleotide variant Familial colorectal cancer [RCV000073325] Chr5:112739797 [GRCh38]
Chr5:112075494 [GRCh37]
Chr5:112103393 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+2145A>G single nucleotide variant Familial colorectal cancer [RCV000073326] Chr5:112740070 [GRCh38]
Chr5:112075767 [GRCh37]
Chr5:112103666 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+2566C>A single nucleotide variant Familial colorectal cancer [RCV000073327] Chr5:112740491 [GRCh38]
Chr5:112076188 [GRCh37]
Chr5:112104087 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+2871G>T single nucleotide variant Familial colorectal cancer [RCV000073328] Chr5:112740796 [GRCh38]
Chr5:112076493 [GRCh37]
Chr5:112104392 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+2880G>T single nucleotide variant Familial colorectal cancer [RCV000073329] Chr5:112740805 [GRCh38]
Chr5:112076502 [GRCh37]
Chr5:112104401 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+3869A>C single nucleotide variant Familial colorectal cancer [RCV000073330] Chr5:112741794 [GRCh38]
Chr5:112077491 [GRCh37]
Chr5:112105390 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+3969G>T single nucleotide variant Familial colorectal cancer [RCV000073331] Chr5:112741894 [GRCh38]
Chr5:112077591 [GRCh37]
Chr5:112105490 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+4670G>T single nucleotide variant Familial colorectal cancer [RCV000073332] Chr5:112742595 [GRCh38]
Chr5:112078292 [GRCh37]
Chr5:112106191 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+5495A>C single nucleotide variant Familial colorectal cancer [RCV000073333] Chr5:112743420 [GRCh38]
Chr5:112079117 [GRCh37]
Chr5:112107016 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+5496T>A single nucleotide variant Familial colorectal cancer [RCV000073334] Chr5:112743421 [GRCh38]
Chr5:112079118 [GRCh37]
Chr5:112107017 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+5503T>A single nucleotide variant Familial colorectal cancer [RCV000073335] Chr5:112743428 [GRCh38]
Chr5:112079125 [GRCh37]
Chr5:112107024 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+5505A>G single nucleotide variant Familial colorectal cancer [RCV000073336] Chr5:112743430 [GRCh38]
Chr5:112079127 [GRCh37]
Chr5:112107026 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+6805G>A single nucleotide variant Familial colorectal cancer [RCV000073337] Chr5:112744730 [GRCh38]
Chr5:112080427 [GRCh37]
Chr5:112108326 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7207T>A single nucleotide variant Familial colorectal cancer [RCV000073338] Chr5:112745132 [GRCh38]
Chr5:112080829 [GRCh37]
Chr5:112108728 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7711T>C single nucleotide variant Familial colorectal cancer [RCV000073339] Chr5:112745636 [GRCh38]
Chr5:112081333 [GRCh37]
Chr5:112109232 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-8204G>C single nucleotide variant Familial colorectal cancer [RCV000073340] Chr5:112746669 [GRCh38]
Chr5:112082366 [GRCh37]
Chr5:112110265 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-7763T>G single nucleotide variant Familial colorectal cancer [RCV000073341] Chr5:112747110 [GRCh38]
Chr5:112082807 [GRCh37]
Chr5:112110706 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-6158A>G single nucleotide variant Familial colorectal cancer [RCV000073342] Chr5:112748715 [GRCh38]
Chr5:112084412 [GRCh37]
Chr5:112112311 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-5649C>A single nucleotide variant Familial colorectal cancer [RCV000073343] Chr5:112749224 [GRCh38]
Chr5:112084921 [GRCh37]
Chr5:112112820 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-5328C>A single nucleotide variant Familial colorectal cancer [RCV000073344] Chr5:112749545 [GRCh38]
Chr5:112085242 [GRCh37]
Chr5:112113141 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-5320T>G single nucleotide variant Familial colorectal cancer [RCV000073345] Chr5:112749553 [GRCh38]
Chr5:112085250 [GRCh37]
Chr5:112113149 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-5277A>C single nucleotide variant Familial colorectal cancer [RCV000073346] Chr5:112749596 [GRCh38]
Chr5:112085293 [GRCh37]
Chr5:112113192 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-5107T>G single nucleotide variant Familial colorectal cancer [RCV000073347] Chr5:112749766 [GRCh38]
Chr5:112085463 [GRCh37]
Chr5:112113362 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-4629T>G single nucleotide variant Familial colorectal cancer [RCV000073348] Chr5:112750244 [GRCh38]
Chr5:112085941 [GRCh37]
Chr5:112113840 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-4623A>C single nucleotide variant Familial colorectal cancer [RCV000073349] Chr5:112750250 [GRCh38]
Chr5:112085947 [GRCh37]
Chr5:112113846 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-1457G>T single nucleotide variant Familial colorectal cancer [RCV000073350] Chr5:112753416 [GRCh38]
Chr5:112089113 [GRCh37]
Chr5:112117012 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-1160G>T single nucleotide variant Familial colorectal cancer [RCV000073351] Chr5:112753713 [GRCh38]
Chr5:112089410 [GRCh37]
Chr5:112117309 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-62T>A single nucleotide variant Familial colorectal cancer [RCV000073352] Chr5:112754811 [GRCh38]
Chr5:112090508 [GRCh37]
Chr5:112118407 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+859A>G single nucleotide variant Familial colorectal cancer [RCV000073353] Chr5:112755884 [GRCh38]
Chr5:112091581 [GRCh37]
Chr5:112119480 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+862A>G single nucleotide variant Familial colorectal cancer [RCV000073354] Chr5:112755887 [GRCh38]
Chr5:112091584 [GRCh37]
Chr5:112119483 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+2275G>T single nucleotide variant Familial colorectal cancer [RCV000073355] Chr5:112757300 [GRCh38]
Chr5:112092997 [GRCh37]
Chr5:112120896 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3581G>C single nucleotide variant Familial colorectal cancer [RCV000073356] Chr5:112758606 [GRCh38]
Chr5:112094303 [GRCh37]
Chr5:112122202 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3582A>C single nucleotide variant Familial colorectal cancer [RCV000073357] Chr5:112758607 [GRCh38]
Chr5:112094304 [GRCh37]
Chr5:112122203 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3586A>C single nucleotide variant Familial colorectal cancer [RCV000073358] Chr5:112758611 [GRCh38]
Chr5:112094308 [GRCh37]
Chr5:112122207 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3678T>G single nucleotide variant Familial colorectal cancer [RCV000073359] Chr5:112758703 [GRCh38]
Chr5:112094400 [GRCh37]
Chr5:112122299 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3679G>C single nucleotide variant Familial colorectal cancer [RCV000073360] Chr5:112758704 [GRCh38]
Chr5:112094401 [GRCh37]
Chr5:112122300 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3685T>C single nucleotide variant Familial colorectal cancer [RCV000073361] Chr5:112758710 [GRCh38]
Chr5:112094407 [GRCh37]
Chr5:112122306 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3728A>C single nucleotide variant Familial colorectal cancer [RCV000073362] Chr5:112758753 [GRCh38]
Chr5:112094450 [GRCh37]
Chr5:112122349 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+4609C>G single nucleotide variant Familial colorectal cancer [RCV000073363] Chr5:112759634 [GRCh38]
Chr5:112095331 [GRCh37]
Chr5:112123230 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+4614G>C single nucleotide variant Familial colorectal cancer [RCV000073364] Chr5:112759639 [GRCh38]
Chr5:112095336 [GRCh37]
Chr5:112123235 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-5500T>C single nucleotide variant Familial colorectal cancer [RCV000073365] Chr5:112760826 [GRCh38]
Chr5:112096523 [GRCh37]
Chr5:112124422 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-5499C>T single nucleotide variant Familial colorectal cancer [RCV000073366] Chr5:112760827 [GRCh38]
Chr5:112096524 [GRCh37]
Chr5:112124423 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-5245T>G single nucleotide variant Familial colorectal cancer [RCV000073367] Chr5:112761081 [GRCh38]
Chr5:112096778 [GRCh37]
Chr5:112124677 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-5227A>C single nucleotide variant Familial colorectal cancer [RCV000073368] Chr5:112761099 [GRCh38]
Chr5:112096796 [GRCh37]
Chr5:112124695 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-3506G>T single nucleotide variant Familial colorectal cancer [RCV000073369] Chr5:112762820 [GRCh38]
Chr5:112098517 [GRCh37]
Chr5:112126416 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-3072A>G single nucleotide variant Familial colorectal cancer [RCV000073370] Chr5:112763254 [GRCh38]
Chr5:112098951 [GRCh37]
Chr5:112126850 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2965G>A single nucleotide variant Familial colorectal cancer [RCV000073371] Chr5:112763361 [GRCh38]
Chr5:112099058 [GRCh37]
Chr5:112126957 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2953C>T single nucleotide variant Familial colorectal cancer [RCV000073372] Chr5:112763373 [GRCh38]
Chr5:112099070 [GRCh37]
Chr5:112126969 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2352A>C single nucleotide variant Familial colorectal cancer [RCV000073373] Chr5:112763974 [GRCh38]
Chr5:112099671 [GRCh37]
Chr5:112127570 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2333T>C single nucleotide variant Familial colorectal cancer [RCV000073374] Chr5:112763993 [GRCh38]
Chr5:112099690 [GRCh37]
Chr5:112127589 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2311A>G single nucleotide variant Familial colorectal cancer [RCV000073375] Chr5:112764015 [GRCh38]
Chr5:112099712 [GRCh37]
Chr5:112127611 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2231A>T single nucleotide variant Familial colorectal cancer [RCV000073376] Chr5:112764095 [GRCh38]
Chr5:112099792 [GRCh37]
Chr5:112127691 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-2078A>C single nucleotide variant Familial colorectal cancer [RCV000073377] Chr5:112764248 [GRCh38]
Chr5:112099945 [GRCh37]
Chr5:112127844 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1763C>T single nucleotide variant Familial colorectal cancer [RCV000073378] Chr5:112764563 [GRCh38]
Chr5:112100260 [GRCh37]
Chr5:112128159 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-1527G>A single nucleotide variant Familial colorectal cancer [RCV000073379] Chr5:112764799 [GRCh38]
Chr5:112100496 [GRCh37]
Chr5:112128395 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-625A>C single nucleotide variant Familial colorectal cancer [RCV000073380] Chr5:112765701 [GRCh38]
Chr5:112101398 [GRCh37]
Chr5:112129297 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-383G>T single nucleotide variant Familial colorectal cancer [RCV000073381] Chr5:112765943 [GRCh38]
Chr5:112101640 [GRCh37]
Chr5:112129539 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-358C>A single nucleotide variant Familial colorectal cancer [RCV000073382] Chr5:112765968 [GRCh38]
Chr5:112101665 [GRCh37]
Chr5:112129564 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-287A>G single nucleotide variant Familial colorectal cancer [RCV000073383] Chr5:112766039 [GRCh38]
Chr5:112101736 [GRCh37]
Chr5:112129635 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-284A>G single nucleotide variant Familial colorectal cancer [RCV000073384] Chr5:112766042 [GRCh38]
Chr5:112101739 [GRCh37]
Chr5:112129638 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-277T>G single nucleotide variant Familial colorectal cancer [RCV000073385] Chr5:112766049 [GRCh38]
Chr5:112101746 [GRCh37]
Chr5:112129645 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-219C>A single nucleotide variant Familial colorectal cancer [RCV000073386] Chr5:112766107 [GRCh38]
Chr5:112101804 [GRCh37]
Chr5:112129703 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.136-217C>A single nucleotide variant Familial colorectal cancer [RCV000073387] Chr5:112766109 [GRCh38]
Chr5:112101806 [GRCh37]
Chr5:112129705 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.220+38G>T single nucleotide variant Familial colorectal cancer [RCV000073388] Chr5:112766448 [GRCh38]
Chr5:112102145 [GRCh37]
Chr5:112130044 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.220+229T>G single nucleotide variant Familial colorectal cancer [RCV000073389] Chr5:112766639 [GRCh38]
Chr5:112102336 [GRCh37]
Chr5:112130235 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.221-344A>G single nucleotide variant Familial colorectal cancer [RCV000073390] Chr5:112766845 [GRCh38]
Chr5:112102542 [GRCh37]
Chr5:112130441 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+655T>C single nucleotide variant Familial colorectal cancer [RCV000073391] Chr5:112768045 [GRCh38]
Chr5:112103742 [GRCh37]
Chr5:112131641 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+919T>C single nucleotide variant Familial colorectal cancer [RCV000073392] Chr5:112768309 [GRCh38]
Chr5:112104006 [GRCh37]
Chr5:112131905 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+974A>C single nucleotide variant Familial colorectal cancer [RCV000073393] Chr5:112768364 [GRCh38]
Chr5:112104061 [GRCh37]
Chr5:112131960 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+975A>C single nucleotide variant Familial colorectal cancer [RCV000073394] Chr5:112768365 [GRCh38]
Chr5:112104062 [GRCh37]
Chr5:112131961 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1015G>T single nucleotide variant Familial colorectal cancer [RCV000073395] Chr5:112768405 [GRCh38]
Chr5:112104102 [GRCh37]
Chr5:112132001 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1016A>C single nucleotide variant Familial colorectal cancer [RCV000073396] Chr5:112768406 [GRCh38]
Chr5:112104103 [GRCh37]
Chr5:112132002 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1113T>A single nucleotide variant Familial colorectal cancer [RCV000073397] Chr5:112768503 [GRCh38]
Chr5:112104200 [GRCh37]
Chr5:112132099 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1477A>G single nucleotide variant Familial colorectal cancer [RCV000073398] Chr5:112768867 [GRCh38]
Chr5:112104564 [GRCh37]
Chr5:112132463 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1575T>G single nucleotide variant Familial colorectal cancer [RCV000073399] Chr5:112768965 [GRCh38]
Chr5:112104662 [GRCh37]
Chr5:112132561 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1672T>G single nucleotide variant Familial colorectal cancer [RCV000073400] Chr5:112769062 [GRCh38]
Chr5:112104759 [GRCh37]
Chr5:112132658 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+1806A>C single nucleotide variant Familial colorectal cancer [RCV000073401] Chr5:112769196 [GRCh38]
Chr5:112104893 [GRCh37]
Chr5:112132792 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+2131G>T single nucleotide variant Familial colorectal cancer [RCV000073402] Chr5:112769521 [GRCh38]
Chr5:112105218 [GRCh37]
Chr5:112133117 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+3192G>T single nucleotide variant Familial colorectal cancer [RCV000073403] Chr5:112770582 [GRCh38]
Chr5:112106279 [GRCh37]
Chr5:112134178 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+3687G>C single nucleotide variant Familial colorectal cancer [RCV000073404] Chr5:112771077 [GRCh38]
Chr5:112106774 [GRCh37]
Chr5:112134673 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.422+3986T>G single nucleotide variant Familial colorectal cancer [RCV000073405] Chr5:112771376 [GRCh38]
Chr5:112107073 [GRCh37]
Chr5:112134972 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-3313C>A single nucleotide variant Familial colorectal cancer [RCV000073406] Chr5:112772316 [GRCh38]
Chr5:112108013 [GRCh37]
Chr5:112135912 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-3178T>C single nucleotide variant Familial colorectal cancer [RCV000073407] Chr5:112772451 [GRCh38]
Chr5:112108148 [GRCh37]
Chr5:112136047 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-2719G>T single nucleotide variant Familial colorectal cancer [RCV000073408] Chr5:112772910 [GRCh38]
Chr5:112108607 [GRCh37]
Chr5:112136506 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-2650G>T single nucleotide variant Familial colorectal cancer [RCV000073409] Chr5:112772979 [GRCh38]
Chr5:112108676 [GRCh37]
Chr5:112136575 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-1323A>G single nucleotide variant Familial colorectal cancer [RCV000073410] Chr5:112774306 [GRCh38]
Chr5:112110003 [GRCh37]
Chr5:112137902 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-912T>C single nucleotide variant Familial colorectal cancer [RCV000073411] Chr5:112774717 [GRCh38]
Chr5:112110414 [GRCh37]
Chr5:112138313 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-909A>C single nucleotide variant Familial colorectal cancer [RCV000073412] Chr5:112774720 [GRCh38]
Chr5:112110417 [GRCh37]
Chr5:112138316 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-690C>G single nucleotide variant Familial colorectal cancer [RCV000073413] Chr5:112774939 [GRCh38]
Chr5:112110636 [GRCh37]
Chr5:112138535 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.423-677C>T single nucleotide variant Familial colorectal cancer [RCV000073414] Chr5:112774952 [GRCh38]
Chr5:112110649 [GRCh37]
Chr5:112138548 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+679A>G single nucleotide variant Familial colorectal cancer [RCV000073415] Chr5:112776416 [GRCh38]
Chr5:112112113 [GRCh37]
Chr5:112140012 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+896T>C single nucleotide variant Familial colorectal cancer [RCV000073416] Chr5:112776633 [GRCh38]
Chr5:112112330 [GRCh37]
Chr5:112140229 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.531+1622T>A single nucleotide variant Familial colorectal cancer [RCV000073417] Chr5:112777359 [GRCh38]
Chr5:112113056 [GRCh37]
Chr5:112140955 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-2322A>T single nucleotide variant Familial colorectal cancer [RCV000073418] Chr5:112778468 [GRCh38]
Chr5:112114165 [GRCh37]
Chr5:112142064 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-2267A>T single nucleotide variant Familial colorectal cancer [RCV000073419] Chr5:112778523 [GRCh38]
Chr5:112114220 [GRCh37]
Chr5:112142119 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-2262C>A single nucleotide variant Familial colorectal cancer [RCV000073420] Chr5:112778528 [GRCh38]
Chr5:112114225 [GRCh37]
Chr5:112142124 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-1968T>G single nucleotide variant Familial colorectal cancer [RCV000073421] Chr5:112778822 [GRCh38]
Chr5:112114519 [GRCh37]
Chr5:112142418 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-1963G>C single nucleotide variant Familial colorectal cancer [RCV000073422] Chr5:112778827 [GRCh38]
Chr5:112114524 [GRCh37]
Chr5:112142423 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+122A>G single nucleotide variant Familial colorectal cancer [RCV000073423] Chr5:112781025 [GRCh38]
Chr5:112116722 [GRCh37]
Chr5:112144621 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+154C>A single nucleotide variant Familial colorectal cancer [RCV000073424] Chr5:112781057 [GRCh38]
Chr5:112116754 [GRCh37]
Chr5:112144653 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+876C>T single nucleotide variant Familial colorectal cancer [RCV000073425] Chr5:112781779 [GRCh38]
Chr5:112117476 [GRCh37]
Chr5:112145375 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+1270T>C single nucleotide variant Familial colorectal cancer [RCV000073426] Chr5:112782173 [GRCh38]
Chr5:112117870 [GRCh37]
Chr5:112145769 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+1462C>A single nucleotide variant Familial colorectal cancer [RCV000073427] Chr5:112782365 [GRCh38]
Chr5:112118062 [GRCh37]
Chr5:112145961 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+1515G>T single nucleotide variant Familial colorectal cancer [RCV000073428] Chr5:112782418 [GRCh38]
Chr5:112118115 [GRCh37]
Chr5:112146014 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3021C>T single nucleotide variant Familial colorectal cancer [RCV000073429] Chr5:112783924 [GRCh38]
Chr5:112119621 [GRCh37]
Chr5:112147520 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3078C>A single nucleotide variant Familial colorectal cancer [RCV000073430] Chr5:112783981 [GRCh38]
Chr5:112119678 [GRCh37]
Chr5:112147577 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3205C>A single nucleotide variant Familial colorectal cancer [RCV000073431] Chr5:112784108 [GRCh38]
Chr5:112119805 [GRCh37]
Chr5:112147704 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3276T>C single nucleotide variant Familial colorectal cancer [RCV000073432] Chr5:112784179 [GRCh38]
Chr5:112119876 [GRCh37]
Chr5:112147775 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3446T>G single nucleotide variant Familial colorectal cancer [RCV000073433] Chr5:112784349 [GRCh38]
Chr5:112120046 [GRCh37]
Chr5:112147945 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3454T>G single nucleotide variant Familial colorectal cancer [RCV000073434] Chr5:112784357 [GRCh38]
Chr5:112120054 [GRCh37]
Chr5:112147953 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3455G>C single nucleotide variant Familial colorectal cancer [RCV000073435] Chr5:112784358 [GRCh38]
Chr5:112120055 [GRCh37]
Chr5:112147954 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3709C>G single nucleotide variant Familial colorectal cancer [RCV000073436] Chr5:112784612 [GRCh38]
Chr5:112120309 [GRCh37]
Chr5:112148208 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3714G>A single nucleotide variant Familial colorectal cancer [RCV000073437] Chr5:112784617 [GRCh38]
Chr5:112120314 [GRCh37]
Chr5:112148213 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3718T>C single nucleotide variant Familial colorectal cancer [RCV000073438] Chr5:112784621 [GRCh38]
Chr5:112120318 [GRCh37]
Chr5:112148217 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3976G>C single nucleotide variant Familial colorectal cancer [RCV000073439] Chr5:112784879 [GRCh38]
Chr5:112120576 [GRCh37]
Chr5:112148475 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3978A>C single nucleotide variant Familial colorectal cancer [RCV000073440] Chr5:112784881 [GRCh38]
Chr5:112120578 [GRCh37]
Chr5:112148477 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+4262G>T single nucleotide variant Familial colorectal cancer [RCV000073441] Chr5:112785165 [GRCh38]
Chr5:112120862 [GRCh37]
Chr5:112148761 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+4263A>T single nucleotide variant Familial colorectal cancer [RCV000073442] Chr5:112785166 [GRCh38]
Chr5:112120863 [GRCh37]
Chr5:112148762 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+5003A>T single nucleotide variant Familial colorectal cancer [RCV000073443] Chr5:112785906 [GRCh38]
Chr5:112121603 [GRCh37]
Chr5:112149502 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+5030A>G single nucleotide variant Familial colorectal cancer [RCV000073444] Chr5:112785933 [GRCh38]
Chr5:112121630 [GRCh37]
Chr5:112149529 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+5134C>A single nucleotide variant Familial colorectal cancer [RCV000073445] Chr5:112786037 [GRCh38]
Chr5:112121734 [GRCh37]
Chr5:112149633 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+5220G>T single nucleotide variant Familial colorectal cancer [RCV000073446] Chr5:112786123 [GRCh38]
Chr5:112121820 [GRCh37]
Chr5:112149719 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+5236A>C single nucleotide variant Familial colorectal cancer [RCV000073447] Chr5:112786139 [GRCh38]
Chr5:112121836 [GRCh37]
Chr5:112149735 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+5391T>G single nucleotide variant Familial colorectal cancer [RCV000073448] Chr5:112786294 [GRCh38]
Chr5:112121991 [GRCh37]
Chr5:112149890 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-5277T>G single nucleotide variant Familial colorectal cancer [RCV000073449] Chr5:112787169 [GRCh38]
Chr5:112122866 [GRCh37]
Chr5:112150765 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4989T>C single nucleotide variant Familial colorectal cancer [RCV000073450] Chr5:112787457 [GRCh38]
Chr5:112123154 [GRCh37]
Chr5:112151053 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4968C>A single nucleotide variant Familial colorectal cancer [RCV000073451] Chr5:112787478 [GRCh38]
Chr5:112123175 [GRCh37]
Chr5:112151074 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4504G>T single nucleotide variant Familial colorectal cancer [RCV000073452] Chr5:112787942 [GRCh38]
Chr5:112123639 [GRCh37]
Chr5:112151538 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4308T>G single nucleotide variant Familial colorectal cancer [RCV000073453] Chr5:112788138 [GRCh38]
Chr5:112123835 [GRCh37]
Chr5:112151734 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4302A>C single nucleotide variant Familial colorectal cancer [RCV000073454] Chr5:112788144 [GRCh38]
Chr5:112123841 [GRCh37]
Chr5:112151740 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4019C>A single nucleotide variant Familial colorectal cancer [RCV000073455] Chr5:112788427 [GRCh38]
Chr5:112124124 [GRCh37]
Chr5:112152023 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-3605C>T single nucleotide variant Familial colorectal cancer [RCV000073456] Chr5:112788841 [GRCh38]
Chr5:112124538 [GRCh37]
Chr5:112152437 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-3277T>C single nucleotide variant Familial colorectal cancer [RCV000073457] Chr5:112789169 [GRCh38]
Chr5:112124866 [GRCh37]
Chr5:112152765 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-3193C>A single nucleotide variant Familial colorectal cancer [RCV000073458] Chr5:112789253 [GRCh38]
Chr5:112124950 [GRCh37]
Chr5:112152849 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2890T>C single nucleotide variant Familial colorectal cancer [RCV000073459] Chr5:112789556 [GRCh38]
Chr5:112125253 [GRCh37]
Chr5:112153152 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2481T>C single nucleotide variant Familial colorectal cancer [RCV000073460] Chr5:112789965 [GRCh38]
Chr5:112125662 [GRCh37]
Chr5:112153561 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1836T>G single nucleotide variant Familial colorectal cancer [RCV000073461] Chr5:112790610 [GRCh38]
Chr5:112126307 [GRCh37]
Chr5:112154206 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1599T>G single nucleotide variant Familial colorectal cancer [RCV000073462] Chr5:112790847 [GRCh38]
Chr5:112126544 [GRCh37]
Chr5:112154443 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-966C>G single nucleotide variant Familial colorectal cancer [RCV000073463] Chr5:112791480 [GRCh38]
Chr5:112127177 [GRCh37]
Chr5:112155076 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-847T>C single nucleotide variant Familial colorectal cancer [RCV000073464] Chr5:112791599 [GRCh38]
Chr5:112127296 [GRCh37]
Chr5:112155195 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-431A>C single nucleotide variant Familial colorectal cancer [RCV000073465] Chr5:112792015 [GRCh38]
Chr5:112127712 [GRCh37]
Chr5:112155611 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-86G>T single nucleotide variant Familial colorectal cancer [RCV000073466] Chr5:112792360 [GRCh38]
Chr5:112128057 [GRCh37]
Chr5:112155956 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-76G>T single nucleotide variant Familial colorectal cancer [RCV000073467] Chr5:112792370 [GRCh38]
Chr5:112128067 [GRCh37]
Chr5:112155966 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+23T>G single nucleotide variant Familial colorectal cancer [RCV000073468] Chr5:112792552 [GRCh38]
Chr5:112128249 [GRCh37]
Chr5:112156148 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+88T>C single nucleotide variant Familial colorectal cancer [RCV000073469]|not provided [RCV001711168] Chr5:112792617 [GRCh38]
Chr5:112128314 [GRCh37]
Chr5:112156213 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.729+447A>G single nucleotide variant Familial colorectal cancer [RCV000073470] Chr5:112792976 [GRCh38]
Chr5:112128673 [GRCh37]
Chr5:112156572 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+964A>C single nucleotide variant Familial colorectal cancer [RCV000073471] Chr5:112793493 [GRCh38]
Chr5:112129190 [GRCh37]
Chr5:112157089 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+970A>T single nucleotide variant Familial colorectal cancer [RCV000073472] Chr5:112793499 [GRCh38]
Chr5:112129196 [GRCh37]
Chr5:112157095 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1527A>G single nucleotide variant Familial colorectal cancer [RCV000073473] Chr5:112794056 [GRCh38]
Chr5:112129753 [GRCh37]
Chr5:112157652 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1530T>A single nucleotide variant Familial colorectal cancer [RCV000073474] Chr5:112794059 [GRCh38]
Chr5:112129756 [GRCh37]
Chr5:112157655 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1618C>A single nucleotide variant Familial colorectal cancer [RCV000073475] Chr5:112794147 [GRCh38]
Chr5:112129844 [GRCh37]
Chr5:112157743 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1672T>C single nucleotide variant Familial colorectal cancer [RCV000073476] Chr5:112794201 [GRCh38]
Chr5:112129898 [GRCh37]
Chr5:112157797 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1829G>C single nucleotide variant Familial colorectal cancer [RCV000073477] Chr5:112794358 [GRCh38]
Chr5:112130055 [GRCh37]
Chr5:112157954 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2040T>C single nucleotide variant Familial colorectal cancer [RCV000073478] Chr5:112794569 [GRCh38]
Chr5:112130266 [GRCh37]
Chr5:112158165 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2184T>C single nucleotide variant Familial colorectal cancer [RCV000073479] Chr5:112794713 [GRCh38]
Chr5:112130410 [GRCh37]
Chr5:112158309 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2218T>C single nucleotide variant Familial colorectal cancer [RCV000073480] Chr5:112794747 [GRCh38]
Chr5:112130444 [GRCh37]
Chr5:112158343 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2258T>C single nucleotide variant Familial colorectal cancer [RCV000073481] Chr5:112794787 [GRCh38]
Chr5:112130484 [GRCh37]
Chr5:112158383 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2619T>G single nucleotide variant Familial colorectal cancer [RCV000073482] Chr5:112795148 [GRCh38]
Chr5:112130845 [GRCh37]
Chr5:112158744 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2781G>C single nucleotide variant Familial colorectal cancer [RCV000073483] Chr5:112795310 [GRCh38]
Chr5:112131007 [GRCh37]
Chr5:112158906 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2876T>C single nucleotide variant Familial colorectal cancer [RCV000073484] Chr5:112795405 [GRCh38]
Chr5:112131102 [GRCh37]
Chr5:112159001 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+3619G>A single nucleotide variant Familial colorectal cancer [RCV000073485] Chr5:112796148 [GRCh38]
Chr5:112131845 [GRCh37]
Chr5:112159744 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-4028A>G single nucleotide variant Familial colorectal cancer [RCV000073486] Chr5:112797251 [GRCh38]
Chr5:112132948 [GRCh37]
Chr5:112160847 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-3290A>C single nucleotide variant Familial colorectal cancer [RCV000073487] Chr5:112797989 [GRCh38]
Chr5:112133686 [GRCh37]
Chr5:112161585 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-3130C>A single nucleotide variant Familial colorectal cancer [RCV000073488] Chr5:112798149 [GRCh38]
Chr5:112133846 [GRCh37]
Chr5:112161745 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-3103C>A single nucleotide variant Familial colorectal cancer [RCV000073489] Chr5:112798176 [GRCh38]
Chr5:112133873 [GRCh37]
Chr5:112161772 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2871A>G single nucleotide variant Familial colorectal cancer [RCV000073490] Chr5:112798408 [GRCh38]
Chr5:112134105 [GRCh37]
Chr5:112162004 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2731A>G single nucleotide variant Familial colorectal cancer [RCV000073491] Chr5:112798548 [GRCh38]
Chr5:112134245 [GRCh37]
Chr5:112162144 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2463T>G single nucleotide variant Familial colorectal cancer [RCV000073492] Chr5:112798816 [GRCh38]
Chr5:112134513 [GRCh37]
Chr5:112162412 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2460C>T single nucleotide variant Familial colorectal cancer [RCV000073493] Chr5:112798819 [GRCh38]
Chr5:112134516 [GRCh37]
Chr5:112162415 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2139C>T single nucleotide variant Familial colorectal cancer [RCV000073494] Chr5:112799140 [GRCh38]
Chr5:112134837 [GRCh37]
Chr5:112162736 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2071A>C single nucleotide variant Familial colorectal cancer [RCV000073495] Chr5:112799208 [GRCh38]
Chr5:112134905 [GRCh37]
Chr5:112162804 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1469C>A single nucleotide variant Familial colorectal cancer [RCV000073496] Chr5:112799810 [GRCh38]
Chr5:112135507 [GRCh37]
Chr5:112163406 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1052C>A single nucleotide variant Familial colorectal cancer [RCV000073497] Chr5:112800227 [GRCh38]
Chr5:112135924 [GRCh37]
Chr5:112163823 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-170T>G single nucleotide variant Familial colorectal cancer [RCV000073498] Chr5:112801109 [GRCh38]
Chr5:112136806 [GRCh37]
Chr5:112164705 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-168G>C single nucleotide variant Familial colorectal cancer [RCV000073499] Chr5:112801111 [GRCh38]
Chr5:112136808 [GRCh37]
Chr5:112164707 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-167A>C single nucleotide variant Familial colorectal cancer [RCV000073500] Chr5:112801112 [GRCh38]
Chr5:112136809 [GRCh37]
Chr5:112164708 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+562A>T single nucleotide variant Familial colorectal cancer [RCV000073501] Chr5:112801945 [GRCh38]
Chr5:112137642 [GRCh37]
Chr5:112165541 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+588T>A single nucleotide variant Familial colorectal cancer [RCV000073502] Chr5:112801971 [GRCh38]
Chr5:112137668 [GRCh37]
Chr5:112165567 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+1020G>T single nucleotide variant Familial colorectal cancer [RCV000073503] Chr5:112802403 [GRCh38]
Chr5:112138100 [GRCh37]
Chr5:112165999 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+1462A>G single nucleotide variant Familial colorectal cancer [RCV000073504] Chr5:112802845 [GRCh38]
Chr5:112138542 [GRCh37]
Chr5:112166441 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+2344A>G single nucleotide variant Familial colorectal cancer [RCV000073505] Chr5:112803727 [GRCh38]
Chr5:112139424 [GRCh37]
Chr5:112167323 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+2538T>C single nucleotide variant Familial colorectal cancer [RCV000073506] Chr5:112803921 [GRCh38]
Chr5:112139618 [GRCh37]
Chr5:112167517 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+2942A>G single nucleotide variant Familial colorectal cancer [RCV000073507] Chr5:112804325 [GRCh38]
Chr5:112140022 [GRCh37]
Chr5:112167921 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3019G>T single nucleotide variant Familial colorectal cancer [RCV000073508] Chr5:112804402 [GRCh38]
Chr5:112140099 [GRCh37]
Chr5:112167998 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3347A>C single nucleotide variant Familial colorectal cancer [RCV000073509] Chr5:112804730 [GRCh38]
Chr5:112140427 [GRCh37]
Chr5:112168326 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3349A>C single nucleotide variant Familial colorectal cancer [RCV000073510] Chr5:112804732 [GRCh38]
Chr5:112140429 [GRCh37]
Chr5:112168328 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3690G>T single nucleotide variant Familial colorectal cancer [RCV000073511] Chr5:112805073 [GRCh38]
Chr5:112140770 [GRCh37]
Chr5:112168669 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3861T>C single nucleotide variant Familial colorectal cancer [RCV000073512] Chr5:112805244 [GRCh38]
Chr5:112140941 [GRCh37]
Chr5:112168840 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4102G>T single nucleotide variant Familial colorectal cancer [RCV000073513] Chr5:112805485 [GRCh38]
Chr5:112141182 [GRCh37]
Chr5:112169081 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4966C>G single nucleotide variant Familial colorectal cancer [RCV000073514] Chr5:112806349 [GRCh38]
Chr5:112142046 [GRCh37]
Chr5:112169945 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5107C>A single nucleotide variant Familial colorectal cancer [RCV000073515] Chr5:112806490 [GRCh38]
Chr5:112142187 [GRCh37]
Chr5:112170086 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5290G>C single nucleotide variant Familial colorectal cancer [RCV000073516] Chr5:112806673 [GRCh38]
Chr5:112142370 [GRCh37]
Chr5:112170269 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5752G>A single nucleotide variant Familial colorectal cancer [RCV000073517] Chr5:112807135 [GRCh38]
Chr5:112142832 [GRCh37]
Chr5:112170731 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5755A>G single nucleotide variant Familial colorectal cancer [RCV000073518] Chr5:112807138 [GRCh38]
Chr5:112142835 [GRCh37]
Chr5:112170734 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5772T>A single nucleotide variant Familial colorectal cancer [RCV000073519] Chr5:112807155 [GRCh38]
Chr5:112142852 [GRCh37]
Chr5:112170751 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6131A>T single nucleotide variant Familial colorectal cancer [RCV000073520] Chr5:112807514 [GRCh38]
Chr5:112143211 [GRCh37]
Chr5:112171110 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6208C>G single nucleotide variant Familial colorectal cancer [RCV000073521] Chr5:112807591 [GRCh38]
Chr5:112143288 [GRCh37]
Chr5:112171187 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6209T>G single nucleotide variant Familial colorectal cancer [RCV000073522] Chr5:112807592 [GRCh38]
Chr5:112143289 [GRCh37]
Chr5:112171188 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6211G>T single nucleotide variant Familial colorectal cancer [RCV000073523] Chr5:112807594 [GRCh38]
Chr5:112143291 [GRCh37]
Chr5:112171190 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6270G>A single nucleotide variant Familial colorectal cancer [RCV000073524] Chr5:112807653 [GRCh38]
Chr5:112143350 [GRCh37]
Chr5:112171249 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6275A>C single nucleotide variant Familial colorectal cancer [RCV000073525] Chr5:112807658 [GRCh38]
Chr5:112143355 [GRCh37]
Chr5:112171254 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6505C>G single nucleotide variant Familial colorectal cancer [RCV000073526] Chr5:112807888 [GRCh38]
Chr5:112143585 [GRCh37]
Chr5:112171484 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6622A>T single nucleotide variant Familial colorectal cancer [RCV000073527] Chr5:112808005 [GRCh38]
Chr5:112143702 [GRCh37]
Chr5:112171601 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6854C>A single nucleotide variant Familial colorectal cancer [RCV000073528] Chr5:112808237 [GRCh38]
Chr5:112143934 [GRCh37]
Chr5:112171833 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-6252A>C single nucleotide variant Familial colorectal cancer [RCV000073529] Chr5:112809243 [GRCh38]
Chr5:112144940 [GRCh37]
Chr5:112172839 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-5123C>T single nucleotide variant Familial colorectal cancer [RCV000073530] Chr5:112810372 [GRCh38]
Chr5:112146069 [GRCh37]
Chr5:112173968 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4928C>T single nucleotide variant Familial colorectal cancer [RCV000073531] Chr5:112810567 [GRCh38]
Chr5:112146264 [GRCh37]
Chr5:112174163 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4425A>C single nucleotide variant Familial colorectal cancer [RCV000073532] Chr5:112811070 [GRCh38]
Chr5:112146767 [GRCh37]
Chr5:112174666 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4348T>G single nucleotide variant Familial colorectal cancer [RCV000073533] Chr5:112811147 [GRCh38]
Chr5:112146844 [GRCh37]
Chr5:112174743 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4342A>G single nucleotide variant Familial colorectal cancer [RCV000073534] Chr5:112811153 [GRCh38]
Chr5:112146850 [GRCh37]
Chr5:112174749 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-3533T>A single nucleotide variant Familial colorectal cancer [RCV000073535] Chr5:112811962 [GRCh38]
Chr5:112147659 [GRCh37]
Chr5:112175558 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-3531G>T single nucleotide variant Familial colorectal cancer [RCV000073536] Chr5:112811964 [GRCh38]
Chr5:112147661 [GRCh37]
Chr5:112175560 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-3022T>C single nucleotide variant Familial colorectal cancer [RCV000073537] Chr5:112812473 [GRCh38]
Chr5:112148170 [GRCh37]
Chr5:112176069 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1830C>T single nucleotide variant Familial colorectal cancer [RCV000073538] Chr5:112813665 [GRCh38]
Chr5:112149362 [GRCh37]
Chr5:112177261 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1827G>C single nucleotide variant Familial colorectal cancer [RCV000073539] Chr5:112813668 [GRCh38]
Chr5:112149365 [GRCh37]
Chr5:112177264 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1816A>G single nucleotide variant Familial colorectal cancer [RCV000073540] Chr5:112813679 [GRCh38]
Chr5:112149376 [GRCh37]
Chr5:112177275 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1654T>C single nucleotide variant Familial colorectal cancer [RCV000073541] Chr5:112813841 [GRCh38]
Chr5:112149538 [GRCh37]
Chr5:112177437 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1028A>C single nucleotide variant Familial colorectal cancer [RCV000073542] Chr5:112814467 [GRCh38]
Chr5:112150164 [GRCh37]
Chr5:112178063 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1026T>C single nucleotide variant Familial colorectal cancer [RCV000073543] Chr5:112814469 [GRCh38]
Chr5:112150166 [GRCh37]
Chr5:112178065 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-630T>C single nucleotide variant Familial colorectal cancer [RCV000073544] Chr5:112814865 [GRCh38]
Chr5:112150562 [GRCh37]
Chr5:112178461 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+79A>C single nucleotide variant Familial colorectal cancer [RCV000073545] Chr5:112815672 [GRCh38]
Chr5:112151369 [GRCh37]
Chr5:112179268 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+81A>C single nucleotide variant Familial colorectal cancer [RCV000073546] Chr5:112815674 [GRCh38]
Chr5:112151371 [GRCh37]
Chr5:112179270 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+277A>C single nucleotide variant Familial colorectal cancer [RCV000073547] Chr5:112815870 [GRCh38]
Chr5:112151567 [GRCh37]
Chr5:112179466 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+517T>C single nucleotide variant Familial colorectal cancer [RCV000073548] Chr5:112816110 [GRCh38]
Chr5:112151807 [GRCh37]
Chr5:112179706 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+916T>G single nucleotide variant Familial colorectal cancer [RCV000073549]|not provided [RCV001707519] Chr5:112816509 [GRCh38]
Chr5:112152206 [GRCh37]
Chr5:112180105 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.933+939A>C single nucleotide variant Familial colorectal cancer [RCV000073550] Chr5:112816532 [GRCh38]
Chr5:112152229 [GRCh37]
Chr5:112180128 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+1353G>C single nucleotide variant Familial colorectal cancer [RCV000073551] Chr5:112816946 [GRCh38]
Chr5:112152643 [GRCh37]
Chr5:112180542 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+1540G>A single nucleotide variant Familial colorectal cancer [RCV000073552] Chr5:112817133 [GRCh38]
Chr5:112152830 [GRCh37]
Chr5:112180729 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-515A>T single nucleotide variant Familial colorectal cancer [RCV000073553] Chr5:112818451 [GRCh38]
Chr5:112154148 [GRCh37]
Chr5:112182047 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-123T>G single nucleotide variant Familial colorectal cancer [RCV000073554] Chr5:112818843 [GRCh38]
Chr5:112154540 [GRCh37]
Chr5:112182439 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-122T>G single nucleotide variant Familial colorectal cancer [RCV000073555] Chr5:112818844 [GRCh38]
Chr5:112154541 [GRCh37]
Chr5:112182440 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-120G>C single nucleotide variant Familial colorectal cancer [RCV000073556] Chr5:112818846 [GRCh38]
Chr5:112154543 [GRCh37]
Chr5:112182442 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+352C>T single nucleotide variant Familial colorectal cancer [RCV000073557] Chr5:112819696 [GRCh38]
Chr5:112155393 [GRCh37]
Chr5:112183292 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+1042A>C single nucleotide variant Familial colorectal cancer [RCV000073558] Chr5:112820386 [GRCh38]
Chr5:112156083 [GRCh37]
Chr5:112183982 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+1056A>C single nucleotide variant Familial colorectal cancer [RCV000073559] Chr5:112820400 [GRCh38]
Chr5:112156097 [GRCh37]
Chr5:112183996 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+1059A>C single nucleotide variant Familial colorectal cancer [RCV000073560] Chr5:112820403 [GRCh38]
Chr5:112156100 [GRCh37]
Chr5:112183999 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1313-476T>G single nucleotide variant Familial colorectal cancer [RCV000073561] Chr5:112821420 [GRCh38]
Chr5:112157117 [GRCh37]
Chr5:112185016 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+524C>A single nucleotide variant Familial colorectal cancer [RCV000073562] Chr5:112822515 [GRCh38]
Chr5:112158212 [GRCh37]
Chr5:112186111 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+792A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003315583]|Familial colorectal cancer [RCV000073563]|not specified [RCV000241988] Chr5:112822783 [GRCh38]
Chr5:112158480 [GRCh37]
Chr5:112186379 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.1408+890C>A single nucleotide variant Familial colorectal cancer [RCV000073564] Chr5:112822881 [GRCh38]
Chr5:112158578 [GRCh37]
Chr5:112186477 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+2167A>T single nucleotide variant Familial colorectal cancer [RCV000073565] Chr5:112824158 [GRCh38]
Chr5:112159855 [GRCh37]
Chr5:112187754 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-2234C>T single nucleotide variant Familial colorectal cancer [RCV000073566] Chr5:112824874 [GRCh38]
Chr5:112160571 [GRCh37]
Chr5:112188470 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-1508C>A single nucleotide variant Familial colorectal cancer [RCV000073567] Chr5:112825600 [GRCh38]
Chr5:112161297 [GRCh37]
Chr5:112189196 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-934C>G single nucleotide variant Familial colorectal cancer [RCV000073568] Chr5:112826174 [GRCh38]
Chr5:112161871 [GRCh37]
Chr5:112189770 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-931G>T single nucleotide variant Familial colorectal cancer [RCV000073569] Chr5:112826177 [GRCh38]
Chr5:112161874 [GRCh37]
Chr5:112189773 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-434C>A single nucleotide variant Familial colorectal cancer [RCV000073570] Chr5:112826674 [GRCh38]
Chr5:112162371 [GRCh37]
Chr5:112190270 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-143G>T single nucleotide variant Familial colorectal cancer [RCV000073571] Chr5:112826965 [GRCh38]
Chr5:112162662 [GRCh37]
Chr5:112190561 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1548+293A>G single nucleotide variant Familial colorectal cancer [RCV000073572] Chr5:112827540 [GRCh38]
Chr5:112163237 [GRCh37]
Chr5:112191136 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1548+294G>T single nucleotide variant Familial colorectal cancer [RCV000073573] Chr5:112827541 [GRCh38]
Chr5:112163238 [GRCh37]
Chr5:112191137 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+439T>A single nucleotide variant Familial colorectal cancer [RCV000073574] Chr5:112829411 [GRCh38]
Chr5:112165108 [GRCh37]
Chr5:112193007 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+442G>C single nucleotide variant Familial colorectal cancer [RCV000073575] Chr5:112829414 [GRCh38]
Chr5:112165111 [GRCh37]
Chr5:112193010 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+527C>A single nucleotide variant Familial colorectal cancer [RCV000073576] Chr5:112829499 [GRCh38]
Chr5:112165196 [GRCh37]
Chr5:112193095 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+688T>G single nucleotide variant Familial colorectal cancer [RCV000073577] Chr5:112829660 [GRCh38]
Chr5:112165357 [GRCh37]
Chr5:112193256 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+690G>C single nucleotide variant Familial colorectal cancer [RCV000073578] Chr5:112829662 [GRCh38]
Chr5:112165359 [GRCh37]
Chr5:112193258 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+706C>T single nucleotide variant Familial colorectal cancer [RCV000073579] Chr5:112829678 [GRCh38]
Chr5:112165375 [GRCh37]
Chr5:112193274 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1062A>C single nucleotide variant Familial colorectal cancer [RCV000073580] Chr5:112830034 [GRCh38]
Chr5:112165731 [GRCh37]
Chr5:112193630 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1320G>A single nucleotide variant Familial colorectal cancer [RCV000073581] Chr5:112830292 [GRCh38]
Chr5:112165989 [GRCh37]
Chr5:112193888 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1377C>A single nucleotide variant Familial colorectal cancer [RCV000073582] Chr5:112830349 [GRCh38]
Chr5:112166046 [GRCh37]
Chr5:112193945 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1735T>G single nucleotide variant Familial colorectal cancer [RCV000073583] Chr5:112830707 [GRCh38]
Chr5:112166404 [GRCh37]
Chr5:112194303 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1898A>T single nucleotide variant Familial colorectal cancer [RCV000073584] Chr5:112830870 [GRCh38]
Chr5:112166567 [GRCh37]
Chr5:112194466 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1900G>T single nucleotide variant Familial colorectal cancer [RCV000073585] Chr5:112830872 [GRCh38]
Chr5:112166569 [GRCh37]
Chr5:112194468 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2155T>G single nucleotide variant Familial colorectal cancer [RCV000073586] Chr5:112831127 [GRCh38]
Chr5:112166824 [GRCh37]
Chr5:112194723 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2157A>T single nucleotide variant Familial colorectal cancer [RCV000073587] Chr5:112831129 [GRCh38]
Chr5:112166826 [GRCh37]
Chr5:112194725 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2159A>T single nucleotide variant Familial colorectal cancer [RCV000073588] Chr5:112831131 [GRCh38]
Chr5:112166828 [GRCh37]
Chr5:112194727 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2374A>C single nucleotide variant Familial colorectal cancer [RCV000073589] Chr5:112831346 [GRCh38]
Chr5:112167043 [GRCh37]
Chr5:112194942 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2399T>G single nucleotide variant Familial colorectal cancer [RCV000073590] Chr5:112831371 [GRCh38]
Chr5:112167068 [GRCh37]
Chr5:112194967 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2402T>G single nucleotide variant Familial colorectal cancer [RCV000073591] Chr5:112831374 [GRCh38]
Chr5:112167071 [GRCh37]
Chr5:112194970 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2727G>A single nucleotide variant Familial colorectal cancer [RCV000073592] Chr5:112832224 [GRCh38]
Chr5:112167921 [GRCh37]
Chr5:112195820 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2272A>C single nucleotide variant Familial colorectal cancer [RCV000073593] Chr5:112832679 [GRCh38]
Chr5:112168376 [GRCh37]
Chr5:112196275 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1872T>C single nucleotide variant Familial colorectal cancer [RCV000073594] Chr5:112833079 [GRCh38]
Chr5:112168776 [GRCh37]
Chr5:112196675 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1868T>C single nucleotide variant Familial colorectal cancer [RCV000073595] Chr5:112833083 [GRCh38]
Chr5:112168780 [GRCh37]
Chr5:112196679 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1829T>C single nucleotide variant Familial colorectal cancer [RCV000073596] Chr5:112833122 [GRCh38]
Chr5:112168819 [GRCh37]
Chr5:112196718 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1489T>G single nucleotide variant Familial colorectal cancer [RCV000073597] Chr5:112833462 [GRCh38]
Chr5:112169159 [GRCh37]
Chr5:112197058 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-980T>G single nucleotide variant Familial colorectal cancer [RCV000073598] Chr5:112833971 [GRCh38]
Chr5:112169668 [GRCh37]
Chr5:112197567 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-739T>G single nucleotide variant Familial colorectal cancer [RCV000073599] Chr5:112834212 [GRCh38]
Chr5:112169909 [GRCh37]
Chr5:112197808 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-731T>G single nucleotide variant Familial colorectal cancer [RCV000073600] Chr5:112834220 [GRCh38]
Chr5:112169917 [GRCh37]
Chr5:112197816 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-725A>C single nucleotide variant Familial colorectal cancer [RCV000073601] Chr5:112834226 [GRCh38]
Chr5:112169923 [GRCh37]
Chr5:112197822 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-722A>C single nucleotide variant Familial colorectal cancer [RCV000073602] Chr5:112834229 [GRCh38]
Chr5:112169926 [GRCh37]
Chr5:112197825 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1908T>G (p.Gly636=) single nucleotide variant Familial colorectal cancer [RCV000073603] Chr5:112835115 [GRCh38]
Chr5:112170812 [GRCh37]
Chr5:112198711 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1927T>C (p.Ser643Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534324]|Familial colorectal cancer [RCV000073604]|Hereditary cancer-predisposing syndrome [RCV000574304] Chr5:112835134 [GRCh38]
Chr5:112170831 [GRCh37]
Chr5:112198730 [NCBI36]
Chr5:5q22.2		 uncertain significance|other
NM_000038.6(APC):c.1958+8T>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000379464]|Carcinoma of colon [RCV001353873]|Familial adenomatous polyposis 1 [RCV003315584]|Familial colorectal cancer [RCV000073605]|Hereditary cancer-predisposing syndrome [RCV000579978]|not provided [RCV001610343]|not specified [RCV000077982] Chr5:112835173 [GRCh38]
Chr5:112170870 [GRCh37]
Chr5:112198769 [NCBI36]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|other
NM_000038.6(APC):c.1958+397C>A single nucleotide variant Familial colorectal cancer [RCV000073606] Chr5:112835562 [GRCh38]
Chr5:112171259 [GRCh37]
Chr5:112199158 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+423T>G single nucleotide variant Familial colorectal cancer [RCV000073607] Chr5:112835588 [GRCh38]
Chr5:112171285 [GRCh37]
Chr5:112199184 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+632T>C single nucleotide variant Familial colorectal cancer [RCV000073608] Chr5:112835797 [GRCh38]
Chr5:112171494 [GRCh37]
Chr5:112199393 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+637G>C single nucleotide variant Familial colorectal cancer [RCV000073609] Chr5:112835802 [GRCh38]
Chr5:112171499 [GRCh37]
Chr5:112199398 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+692G>C single nucleotide variant Familial colorectal cancer [RCV000073610] Chr5:112835857 [GRCh38]
Chr5:112171554 [GRCh37]
Chr5:112199453 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+695A>C single nucleotide variant Familial colorectal cancer [RCV000073611] Chr5:112835860 [GRCh38]
Chr5:112171557 [GRCh37]
Chr5:112199456 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+732A>C single nucleotide variant Familial colorectal cancer [RCV000073612] Chr5:112835897 [GRCh38]
Chr5:112171594 [GRCh37]
Chr5:112199493 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+1012C>T single nucleotide variant Familial colorectal cancer [RCV000073613] Chr5:112836177 [GRCh38]
Chr5:112171874 [GRCh37]
Chr5:112199773 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+1013C>T single nucleotide variant Familial colorectal cancer [RCV000073614] Chr5:112836178 [GRCh38]
Chr5:112171875 [GRCh37]
Chr5:112199774 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+1133T>G single nucleotide variant Familial colorectal cancer [RCV000073615] Chr5:112836298 [GRCh38]
Chr5:112171995 [GRCh37]
Chr5:112199894 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-890A>G single nucleotide variant Familial colorectal cancer [RCV000073616] Chr5:112836663 [GRCh38]
Chr5:112172360 [GRCh37]
Chr5:112200259 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-838T>C single nucleotide variant Familial colorectal cancer [RCV000073617] Chr5:112836715 [GRCh38]
Chr5:112172412 [GRCh37]
Chr5:112200311 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-837C>T single nucleotide variant Familial colorectal cancer [RCV000073618] Chr5:112836716 [GRCh38]
Chr5:112172413 [GRCh37]
Chr5:112200312 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-766A>G single nucleotide variant Familial colorectal cancer [RCV000073619] Chr5:112836787 [GRCh38]
Chr5:112172484 [GRCh37]
Chr5:112200383 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.2510C>G (p.Ser837Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534325]|Familial colorectal cancer [RCV000073620]|Hereditary cancer-predisposing syndrome [RCV002426625] Chr5:112838104 [GRCh38]
Chr5:112173801 [GRCh37]
Chr5:112201700 [NCBI36]
Chr5:5q22.2		 pathogenic|other
NM_000038.6(APC):c.2995C>A (p.Gln999Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002513795]|Familial colorectal cancer [RCV000073621] Chr5:112838589 [GRCh38]
Chr5:112174286 [GRCh37]
Chr5:112202185 [NCBI36]
Chr5:5q22.2		 uncertain significance|other
NM_000038.6(APC):c.4285C>A (p.Gln1429Lys) single nucleotide variant Familial colorectal cancer [RCV000073622] Chr5:112839879 [GRCh38]
Chr5:112175576 [GRCh37]
Chr5:112203475 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.7049C>A (p.Ser2350Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534326]|Familial colorectal cancer [RCV000073623]|Hereditary cancer-predisposing syndrome [RCV001180823]|not provided [RCV003153342] Chr5:112842643 [GRCh38]
Chr5:112178340 [GRCh37]
Chr5:112206239 [NCBI36]
Chr5:5q22.2		 uncertain significance|other
NM_000038.6(APC):c.7513C>G (p.Arg2505Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV001048505]|Familial adenomatous polyposis 1 [RCV003650364]|Familial colorectal cancer [RCV000073624]|Hereditary cancer-predisposing syndrome [RCV000584700] Chr5:112843107 [GRCh38]
Chr5:112178804 [GRCh37]
Chr5:112206703 [NCBI36]
Chr5:5q22.2		 uncertain significance|other
NM_000038.6(APC):c.8137A>C (p.Met2713Leu) single nucleotide variant Familial colorectal cancer [RCV000073625] Chr5:112843731 [GRCh38]
Chr5:112179428 [GRCh37]
Chr5:112207327 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*134C>G single nucleotide variant Familial colorectal cancer [RCV000073626] Chr5:112844260 [GRCh38]
Chr5:112179957 [GRCh37]
Chr5:112207856 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*634C>A single nucleotide variant Familial colorectal cancer [RCV000073627] Chr5:112844760 [GRCh38]
Chr5:112180457 [GRCh37]
Chr5:112208356 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*1535G>T single nucleotide variant Familial colorectal cancer [RCV000073628] Chr5:112845661 [GRCh38]
Chr5:112181358 [GRCh37]
Chr5:112209257 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*2090C>A single nucleotide variant Familial colorectal cancer [RCV000073629] Chr5:112846216 [GRCh38]
Chr5:112181913 [GRCh37]
Chr5:112209812 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20015G>A single nucleotide variant Familial colorectal cancer [RCV000073685] Chr5:112727897 [GRCh38]
Chr5:112063594 [GRCh37]
Chr5:112091493 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20045A>C single nucleotide variant Familial colorectal cancer [RCV000073686] Chr5:112727927 [GRCh38]
Chr5:112063624 [GRCh37]
Chr5:112091523 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20046C>T single nucleotide variant Familial colorectal cancer [RCV000073687] Chr5:112727928 [GRCh38]
Chr5:112063625 [GRCh37]
Chr5:112091524 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20047C>T single nucleotide variant Familial colorectal cancer [RCV000073688] Chr5:112727929 [GRCh38]
Chr5:112063626 [GRCh37]
Chr5:112091525 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20065C>A single nucleotide variant Familial colorectal cancer [RCV000073689] Chr5:112727947 [GRCh38]
Chr5:112063644 [GRCh37]
Chr5:112091543 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20386C>A single nucleotide variant Familial colorectal cancer [RCV000073690] Chr5:112728268 [GRCh38]
Chr5:112063965 [GRCh37]
Chr5:112091864 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20389G>C single nucleotide variant Familial colorectal cancer [RCV000073691] Chr5:112728271 [GRCh38]
Chr5:112063968 [GRCh37]
Chr5:112091867 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20391G>C single nucleotide variant Familial colorectal cancer [RCV000073692] Chr5:112728273 [GRCh38]
Chr5:112063970 [GRCh37]
Chr5:112091869 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20395A>C single nucleotide variant Familial colorectal cancer [RCV000073693] Chr5:112728277 [GRCh38]
Chr5:112063974 [GRCh37]
Chr5:112091873 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20431G>T single nucleotide variant Familial colorectal cancer [RCV000073694] Chr5:112728313 [GRCh38]
Chr5:112064010 [GRCh37]
Chr5:112091909 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20531T>G single nucleotide variant Familial colorectal cancer [RCV000073695] Chr5:112728413 [GRCh38]
Chr5:112064110 [GRCh37]
Chr5:112092009 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20768T>G single nucleotide variant Familial colorectal cancer [RCV000073696] Chr5:112728650 [GRCh38]
Chr5:112064347 [GRCh37]
Chr5:112092246 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20769G>T single nucleotide variant Familial colorectal cancer [RCV000073697] Chr5:112728651 [GRCh38]
Chr5:112064348 [GRCh37]
Chr5:112092247 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20821G>A single nucleotide variant Familial colorectal cancer [RCV000073698] Chr5:112728703 [GRCh38]
Chr5:112064400 [GRCh37]
Chr5:112092299 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20822T>G single nucleotide variant Familial colorectal cancer [RCV000073699] Chr5:112728704 [GRCh38]
Chr5:112064401 [GRCh37]
Chr5:112092300 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+20896A>T single nucleotide variant Familial colorectal cancer [RCV000073700] Chr5:112728778 [GRCh38]
Chr5:112064475 [GRCh37]
Chr5:112092374 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+21247G>C single nucleotide variant Familial colorectal cancer [RCV000073701] Chr5:112729129 [GRCh38]
Chr5:112064826 [GRCh37]
Chr5:112092725 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+22445G>T single nucleotide variant Familial colorectal cancer [RCV000073702] Chr5:112730327 [GRCh38]
Chr5:112066024 [GRCh37]
Chr5:112093923 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+22536G>T single nucleotide variant Familial colorectal cancer [RCV000073703] Chr5:112730418 [GRCh38]
Chr5:112066115 [GRCh37]
Chr5:112094014 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+22945G>C single nucleotide variant Familial colorectal cancer [RCV000073704] Chr5:112730827 [GRCh38]
Chr5:112066524 [GRCh37]
Chr5:112094423 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+23128C>A single nucleotide variant Familial colorectal cancer [RCV000073705] Chr5:112731010 [GRCh38]
Chr5:112066707 [GRCh37]
Chr5:112094606 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+23563C>T single nucleotide variant Familial colorectal cancer [RCV000073706] Chr5:112731445 [GRCh38]
Chr5:112067142 [GRCh37]
Chr5:112095041 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+23715G>T single nucleotide variant Familial colorectal cancer [RCV000073707] Chr5:112731597 [GRCh38]
Chr5:112067294 [GRCh37]
Chr5:112095193 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+25302G>T single nucleotide variant Familial colorectal cancer [RCV000073708] Chr5:112733184 [GRCh38]
Chr5:112068881 [GRCh37]
Chr5:112096780 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+25847T>G single nucleotide variant Familial colorectal cancer [RCV000073709] Chr5:112733729 [GRCh38]
Chr5:112069426 [GRCh37]
Chr5:112097325 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+25849G>C single nucleotide variant Familial colorectal cancer [RCV000073710] Chr5:112733731 [GRCh38]
Chr5:112069428 [GRCh37]
Chr5:112097327 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26911G>T single nucleotide variant Familial colorectal cancer [RCV000073711] Chr5:112734793 [GRCh38]
Chr5:112070490 [GRCh37]
Chr5:112098389 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+26986G>A single nucleotide variant Familial colorectal cancer [RCV000073712] Chr5:112734868 [GRCh38]
Chr5:112070565 [GRCh37]
Chr5:112098464 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+27344A>G single nucleotide variant Familial colorectal cancer [RCV000073713] Chr5:112735226 [GRCh38]
Chr5:112070923 [GRCh37]
Chr5:112098822 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+27358A>G single nucleotide variant Familial colorectal cancer [RCV000073714] Chr5:112735240 [GRCh38]
Chr5:112070937 [GRCh37]
Chr5:112098836 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+27849C>A single nucleotide variant Familial colorectal cancer [RCV000073715] Chr5:112735731 [GRCh38]
Chr5:112071428 [GRCh37]
Chr5:112099327 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+28442T>C single nucleotide variant Familial colorectal cancer [RCV000073716] Chr5:112736324 [GRCh38]
Chr5:112072021 [GRCh37]
Chr5:112099920 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.165+28443G>T single nucleotide variant Familial colorectal cancer [RCV000073717] Chr5:112736325 [GRCh38]
Chr5:112072022 [GRCh37]
Chr5:112099921 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28961T>A single nucleotide variant Familial colorectal cancer [RCV000073718] Chr5:112737365 [GRCh38]
Chr5:112073062 [GRCh37]
Chr5:112100961 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28960A>T single nucleotide variant Familial colorectal cancer [RCV000073719] Chr5:112737366 [GRCh38]
Chr5:112073063 [GRCh37]
Chr5:112100962 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28929A>T single nucleotide variant Familial colorectal cancer [RCV000073720] Chr5:112737397 [GRCh38]
Chr5:112073094 [GRCh37]
Chr5:112100993 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28783T>C single nucleotide variant Familial colorectal cancer [RCV000073721] Chr5:112737543 [GRCh38]
Chr5:112073240 [GRCh37]
Chr5:112101139 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28739T>C single nucleotide variant Familial colorectal cancer [RCV000073722] Chr5:112737587 [GRCh38]
Chr5:112073284 [GRCh37]
Chr5:112101183 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28714C>A single nucleotide variant Familial colorectal cancer [RCV000073723] Chr5:112737612 [GRCh38]
Chr5:112073309 [GRCh37]
Chr5:112101208 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28513G>C single nucleotide variant Familial colorectal cancer [RCV000073724] Chr5:112737813 [GRCh38]
Chr5:112073510 [GRCh37]
Chr5:112101409 [NCBI36]
Chr5:5q22.2		 other
NM_001127511.3(APC):c.166-28466T>G single nucleotide variant Familial colorectal cancer [RCV000073725] Chr5:112737860 [GRCh38]
Chr5:112073557 [GRCh37]
Chr5:112101456 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+42A>G single nucleotide variant Familial colorectal cancer [RCV000073726] Chr5:112737967 [GRCh38]
Chr5:112073664 [GRCh37]
Chr5:112101563 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+141T>C single nucleotide variant Familial colorectal cancer [RCV000073727] Chr5:112738066 [GRCh38]
Chr5:112073763 [GRCh37]
Chr5:112101662 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+148G>C single nucleotide variant Familial colorectal cancer [RCV000073728] Chr5:112738073 [GRCh38]
Chr5:112073770 [GRCh37]
Chr5:112101669 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+559T>G single nucleotide variant Familial colorectal cancer [RCV000073729] Chr5:112738484 [GRCh38]
Chr5:112074181 [GRCh37]
Chr5:112102080 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+563G>T single nucleotide variant Familial colorectal cancer [RCV000073730] Chr5:112738488 [GRCh38]
Chr5:112074185 [GRCh37]
Chr5:112102084 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+647A>G single nucleotide variant Familial colorectal cancer [RCV000073731]|not provided [RCV001811347] Chr5:112738572 [GRCh38]
Chr5:112074269 [GRCh37]
Chr5:112102168 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.-19+694G>T single nucleotide variant Familial colorectal cancer [RCV000073732] Chr5:112738619 [GRCh38]
Chr5:112074316 [GRCh37]
Chr5:112102215 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+734C>T single nucleotide variant Familial colorectal cancer [RCV000073733]|not provided [RCV001811348] Chr5:112738659 [GRCh38]
Chr5:112074356 [GRCh37]
Chr5:112102255 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.-19+797C>A single nucleotide variant Familial colorectal cancer [RCV000073734] Chr5:112738722 [GRCh38]
Chr5:112074419 [GRCh37]
Chr5:112102318 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+888G>T single nucleotide variant Familial colorectal cancer [RCV000073735] Chr5:112738813 [GRCh38]
Chr5:112074510 [GRCh37]
Chr5:112102409 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+894G>T single nucleotide variant Familial colorectal cancer [RCV000073736] Chr5:112738819 [GRCh38]
Chr5:112074516 [GRCh37]
Chr5:112102415 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1100C>G single nucleotide variant Familial colorectal cancer [RCV000073737] Chr5:112739025 [GRCh38]
Chr5:112074722 [GRCh37]
Chr5:112102621 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1328C>A single nucleotide variant Familial colorectal cancer [RCV000073738] Chr5:112739253 [GRCh38]
Chr5:112074950 [GRCh37]
Chr5:112102849 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1416G>T single nucleotide variant Familial colorectal cancer [RCV000073739] Chr5:112739341 [GRCh38]
Chr5:112075038 [GRCh37]
Chr5:112102937 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1718A>G single nucleotide variant Familial colorectal cancer [RCV000073740] Chr5:112739643 [GRCh38]
Chr5:112075340 [GRCh37]
Chr5:112103239 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1721A>G single nucleotide variant Familial colorectal cancer [RCV000073741] Chr5:112739646 [GRCh38]
Chr5:112075343 [GRCh37]
Chr5:112103242 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+1830G>A single nucleotide variant Familial colorectal cancer [RCV000073742] Chr5:112739755 [GRCh38]
Chr5:112075452 [GRCh37]
Chr5:112103351 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+2325T>C single nucleotide variant Familial colorectal cancer [RCV000073743] Chr5:112740250 [GRCh38]
Chr5:112075947 [GRCh37]
Chr5:112103846 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+2868T>G single nucleotide variant Familial colorectal cancer [RCV000073744] Chr5:112740793 [GRCh38]
Chr5:112076490 [GRCh37]
Chr5:112104389 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+3825T>A single nucleotide variant Familial colorectal cancer [RCV000073745] Chr5:112741750 [GRCh38]
Chr5:112077447 [GRCh37]
Chr5:112105346 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+3861T>C single nucleotide variant Familial colorectal cancer [RCV000073746] Chr5:112741786 [GRCh38]
Chr5:112077483 [GRCh37]
Chr5:112105382 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+3876G>C single nucleotide variant Familial colorectal cancer [RCV000073747] Chr5:112741801 [GRCh38]
Chr5:112077498 [GRCh37]
Chr5:112105397 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+4059C>T single nucleotide variant Familial colorectal cancer [RCV000073748] Chr5:112741984 [GRCh38]
Chr5:112077681 [GRCh37]
Chr5:112105580 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+4148A>G single nucleotide variant Familial colorectal cancer [RCV000073749] Chr5:112742073 [GRCh38]
Chr5:112077770 [GRCh37]
Chr5:112105669 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+4298G>C single nucleotide variant Familial colorectal cancer [RCV000073750] Chr5:112742223 [GRCh38]
Chr5:112077920 [GRCh37]
Chr5:112105819 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+4791C>A single nucleotide variant Familial colorectal cancer [RCV000073751] Chr5:112742716 [GRCh38]
Chr5:112078413 [GRCh37]
Chr5:112106312 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+6005C>T single nucleotide variant Familial colorectal cancer [RCV000073752] Chr5:112743930 [GRCh38]
Chr5:112079627 [GRCh37]
Chr5:112107526 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+6007G>T single nucleotide variant Familial colorectal cancer [RCV000073753] Chr5:112743932 [GRCh38]
Chr5:112079629 [GRCh37]
Chr5:112107528 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+6054C>A single nucleotide variant Familial colorectal cancer [RCV000073754] Chr5:112743979 [GRCh38]
Chr5:112079676 [GRCh37]
Chr5:112107575 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+6260T>G single nucleotide variant Familial colorectal cancer [RCV000073755] Chr5:112744185 [GRCh38]
Chr5:112079882 [GRCh37]
Chr5:112107781 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+6803G>A single nucleotide variant Familial colorectal cancer [RCV000073756] Chr5:112744728 [GRCh38]
Chr5:112080425 [GRCh37]
Chr5:112108324 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+6806A>T single nucleotide variant Familial colorectal cancer [RCV000073757] Chr5:112744731 [GRCh38]
Chr5:112080428 [GRCh37]
Chr5:112108327 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+6807G>A single nucleotide variant Familial colorectal cancer [RCV000073758] Chr5:112744732 [GRCh38]
Chr5:112080429 [GRCh37]
Chr5:112108328 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7106G>A single nucleotide variant Familial colorectal cancer [RCV000073759] Chr5:112745031 [GRCh38]
Chr5:112080728 [GRCh37]
Chr5:112108627 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7205G>A single nucleotide variant Familial colorectal cancer [RCV000073760] Chr5:112745130 [GRCh38]
Chr5:112080827 [GRCh37]
Chr5:112108726 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7206G>T single nucleotide variant Familial colorectal cancer [RCV000073761] Chr5:112745131 [GRCh38]
Chr5:112080828 [GRCh37]
Chr5:112108727 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7757C>A single nucleotide variant Familial colorectal cancer [RCV000073762] Chr5:112745682 [GRCh38]
Chr5:112081379 [GRCh37]
Chr5:112109278 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7791T>G single nucleotide variant Familial colorectal cancer [RCV000073763] Chr5:112745716 [GRCh38]
Chr5:112081413 [GRCh37]
Chr5:112109312 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7793C>G single nucleotide variant Familial colorectal cancer [RCV000073764] Chr5:112745718 [GRCh38]
Chr5:112081415 [GRCh37]
Chr5:112109314 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+7795A>C single nucleotide variant Familial colorectal cancer [RCV000073765] Chr5:112745720 [GRCh38]
Chr5:112081417 [GRCh37]
Chr5:112109316 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+8064G>T single nucleotide variant Familial colorectal cancer [RCV000073766] Chr5:112745989 [GRCh38]
Chr5:112081686 [GRCh37]
Chr5:112109585 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+8065G>T single nucleotide variant Familial colorectal cancer [RCV000073767] Chr5:112745990 [GRCh38]
Chr5:112081687 [GRCh37]
Chr5:112109586 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+8302A>G single nucleotide variant Familial colorectal cancer [RCV000073768] Chr5:112746227 [GRCh38]
Chr5:112081924 [GRCh37]
Chr5:112109823 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+8413C>A single nucleotide variant Familial colorectal cancer [RCV000073769] Chr5:112746338 [GRCh38]
Chr5:112082035 [GRCh37]
Chr5:112109934 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+8468T>G single nucleotide variant Familial colorectal cancer [RCV000073770] Chr5:112746393 [GRCh38]
Chr5:112082090 [GRCh37]
Chr5:112109989 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+8469A>C single nucleotide variant Familial colorectal cancer [RCV000073771] Chr5:112746394 [GRCh38]
Chr5:112082091 [GRCh37]
Chr5:112109990 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-19+8470A>C single nucleotide variant Familial colorectal cancer [RCV000073772] Chr5:112746395 [GRCh38]
Chr5:112082092 [GRCh37]
Chr5:112109991 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-8447A>T single nucleotide variant Familial colorectal cancer [RCV000073773] Chr5:112746426 [GRCh38]
Chr5:112082123 [GRCh37]
Chr5:112110022 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-7765C>A single nucleotide variant Familial colorectal cancer [RCV000073774] Chr5:112747108 [GRCh38]
Chr5:112082805 [GRCh37]
Chr5:112110704 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-7760G>C single nucleotide variant Familial colorectal cancer [RCV000073775] Chr5:112747113 [GRCh38]
Chr5:112082810 [GRCh37]
Chr5:112110709 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-7698C>A single nucleotide variant Familial colorectal cancer [RCV000073776] Chr5:112747175 [GRCh38]
Chr5:112082872 [GRCh37]
Chr5:112110771 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-7632A>G single nucleotide variant Familial colorectal cancer [RCV000073777] Chr5:112747241 [GRCh38]
Chr5:112082938 [GRCh37]
Chr5:112110837 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-7625A>G single nucleotide variant Familial colorectal cancer [RCV000073778] Chr5:112747248 [GRCh38]
Chr5:112082945 [GRCh37]
Chr5:112110844 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-7621C>A single nucleotide variant Familial colorectal cancer [RCV000073779] Chr5:112747252 [GRCh38]
Chr5:112082949 [GRCh37]
Chr5:112110848 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-6234A>G single nucleotide variant Familial colorectal cancer [RCV000073780] Chr5:112748639 [GRCh38]
Chr5:112084336 [GRCh37]
Chr5:112112235 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-5318G>C single nucleotide variant Familial colorectal cancer [RCV000073781] Chr5:112749555 [GRCh38]
Chr5:112085252 [GRCh37]
Chr5:112113151 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-5113C>A single nucleotide variant Familial colorectal cancer [RCV000073782] Chr5:112749760 [GRCh38]
Chr5:112085457 [GRCh37]
Chr5:112113356 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-5070A>G single nucleotide variant Familial colorectal cancer [RCV000073783] Chr5:112749803 [GRCh38]
Chr5:112085500 [GRCh37]
Chr5:112113399 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-4959T>G single nucleotide variant Familial colorectal cancer [RCV000073784] Chr5:112749914 [GRCh38]
Chr5:112085611 [GRCh37]
Chr5:112113510 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-4635C>A single nucleotide variant Familial colorectal cancer [RCV000073785] Chr5:112750238 [GRCh38]
Chr5:112085935 [GRCh37]
Chr5:112113834 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-4631C>A single nucleotide variant Familial colorectal cancer [RCV000073786] Chr5:112750242 [GRCh38]
Chr5:112085939 [GRCh37]
Chr5:112113838 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.-18-4626G>C single nucleotide variant Familial colorectal cancer [RCV000073787] Chr5:112750247 [GRCh38]
Chr5:112085944 [GRCh37]
Chr5:112113843 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1299G>A (p.Gln433=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653547]|Hereditary cancer-predisposing syndrome [RCV002386817] Chr5:112819331 [GRCh38]
Chr5:112155028 [GRCh37]
Chr5:112182927 [NCBI36]
Chr5:5q22.2		 likely benign|not provided
NM_000038.6(APC):c.3335C>A (p.Thr1112Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326526] Chr5:112838929 [GRCh38]
Chr5:112174626 [GRCh37]
Chr5:112202525 [NCBI36]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.4992C>T (p.Ser1664=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534323]|Hereditary cancer-predisposing syndrome [RCV002336220] Chr5:112840586 [GRCh38]
Chr5:112176283 [GRCh37]
Chr5:112204182 [NCBI36]
Chr5:5q22.2		 likely benign|not provided
NM_000038.6(APC):c.2840_2841del (p.Cys947fs) deletion Familial adenomatous polyposis 1 [RCV000662305]|Hereditary cancer-predisposing syndrome [RCV000773636] Chr5:112838433..112838434 [GRCh38]
Chr5:112174130..112174131 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2853del (p.Pro950_Tyr951insTer) deletion not provided [RCV000657816] Chr5:112838447 [GRCh38]
Chr5:112174144 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs) deletion Familial adenomatous polyposis 1 [RCV000662306]|Familial adenomatous polyposis 1 [RCV002289950]|Hereditary cancer-predisposing syndrome [RCV002331296] Chr5:112839720..112839721 [GRCh38]
Chr5:112175417..112175418 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.271del (p.Met91fs) deletion Familial adenomatous polyposis 1 [RCV003459555]|not provided [RCV000657161] Chr5:112767235 [GRCh38]
Chr5:112102932 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3123_3124del (p.Pro1043fs) deletion Familial adenomatous polyposis 1 [RCV003337331]|not provided [RCV000657175] Chr5:112838716..112838717 [GRCh38]
Chr5:112174413..112174414 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7959_7962del (p.Thr2654fs) deletion Familial adenomatous polyposis 1 [RCV003534544]|not provided [RCV000657194] Chr5:112843552..112843555 [GRCh38]
Chr5:112179249..112179252 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1834_1838del (p.Ala612fs) deletion not provided [RCV000657397] Chr5:112835040..112835044 [GRCh38]
Chr5:112170737..112170741 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1336del (p.Ile446fs) deletion not provided [RCV000657430] Chr5:112821919 [GRCh38]
Chr5:112157616 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7393_7394del (p.Leu2465fs) microsatellite Familial adenomatous polyposis 1 [RCV003744624]|not provided [RCV000657436] Chr5:112842984..112842985 [GRCh38]
Chr5:112178681..112178682 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2859dup (p.Leu954fs) duplication Familial adenomatous polyposis 1 [RCV001855354]|Familial adenomatous polyposis 1 [RCV003744625]|not provided [RCV000657437] Chr5:112838450..112838451 [GRCh38]
Chr5:112174147..112174148 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2083del (p.Gln695fs) deletion Familial adenomatous polyposis 1 [RCV003336125]|not provided [RCV000657449] Chr5:112837676 [GRCh38]
Chr5:112173373 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7946_7955del (p.Pro2649fs) deletion not provided [RCV000657468] Chr5:112843539..112843548 [GRCh38]
Chr5:112179236..112179245 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1652del (p.Leu551fs) deletion Familial adenomatous polyposis 1 [RCV003336126]|not provided [RCV000657499] Chr5:112828879 [GRCh38]
Chr5:112164576 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter) single nucleotide variant Desmoid disease, hereditary [RCV000763543]|Familial adenomatous polyposis 1 [RCV003337333]|Hereditary cancer-predisposing syndrome [RCV002360677]|not provided [RCV000657604] Chr5:112839461 [GRCh38]
Chr5:112175158 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2063C>A (p.Ser688Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000656740] Chr5:112837657 [GRCh38]
Chr5:112173354 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127510.3(APC):c.1917dup (p.Arg640fs) duplication Familial adenomatous polyposis 1 [RCV000035067]|Familial multiple polyposis syndrome [RCV000844609] Chr5:112835123..112835124 [GRCh38]
Chr5:112170820..112170821 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1005A>G (p.Leu335=) single nucleotide variant Carcinoma of colon [RCV001353629]|Familial adenomatous polyposis 1 [RCV003764753]|Hereditary cancer-predisposing syndrome [RCV000491005]|not provided [RCV000723617]|not specified [RCV000077980] Chr5:112819037 [GRCh38]
Chr5:112154734 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1659G>A (p.Trp553Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335092]|Hereditary cancer-predisposing syndrome [RCV001012589]|not provided [RCV000174655] Chr5:112828888 [GRCh38]
Chr5:112164585 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2365C>T (p.Gln789Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335093]|Hereditary cancer-predisposing syndrome [RCV000490954]|not provided [RCV000657603] Chr5:112837959 [GRCh38]
Chr5:112173656 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) deletion APC-related condition [RCV003894926]|Familial adenomatous polyposis 1 [RCV002513817]|Familial adenomatous polyposis 1 [RCV003137618]|Familial multiple polyposis syndrome [RCV000779727]|Hereditary cancer-predisposing syndrome [RCV000115074]|not provided [RCV000077984]|not specified [RCV001002166] Chr5:112838138..112838141 [GRCh38]
Chr5:112173835..112173838 [GRCh37]
Chr5:5q22.2		 pathogenic|drug response
NM_000038.6(APC):c.2731G>T (p.Glu911Ter) single nucleotide variant not provided [RCV000174980] Chr5:112838325 [GRCh38]
Chr5:112174022 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2805del (p.Thr934_Tyr935insTer) deletion Familial adenomatous polyposis 1 [RCV002514367]|Familial adenomatous polyposis 1 [RCV003534327]|Hereditary cancer-predisposing syndrome [RCV002433583]|not provided [RCV000174983] Chr5:112838399 [GRCh38]
Chr5:112174096 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer) deletion Carcinoma of colon [RCV001353466]|Craniopharyngioma [RCV000722012]|Familial adenomatous polyposis 1 [RCV000144562]|Familial adenomatous polyposis 1 [RCV003743559]|Familial multiple polyposis syndrome [RCV000502016]|Hereditary cancer-predisposing syndrome [RCV000162768]|not provided [RCV000077987] Chr5:112838774..112838778 [GRCh38]
Chr5:112174471..112174475 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3471G>A (p.Glu1157=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000353083]|Carcinoma of colon [RCV001353847]|Familial adenomatous polyposis 1 [RCV003650366]|Hereditary cancer-predisposing syndrome [RCV000128969]|not provided [RCV001310854]|not specified [RCV000077989] Chr5:112839065 [GRCh38]
Chr5:112174762 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter) single nucleotide variant APC-related condition [RCV003415842]|Carcinoma of colon [RCV000501536]|Familial adenomatous polyposis 1 [RCV003335095]|Familial adenomatous polyposis 1 [RCV003743560]|Hereditary cancer-predisposing syndrome [RCV000570934]|not provided [RCV000077990] Chr5:112839576 [GRCh38]
Chr5:112175273 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4473dup (p.Ala1492fs) duplication Desmoid tumor [RCV000722013]|Familial adenomatous polyposis 1 [RCV002515753]|Familial adenomatous polyposis 1 [RCV003534328]|not provided [RCV000790817] Chr5:112840063..112840064 [GRCh38]
Chr5:112175760..112175761 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5363G>A (p.Arg1788His) single nucleotide variant APC-Associated Polyposis Disorders [RCV000393057]|Desmoid disease, hereditary [RCV000764566]|Familial adenomatous polyposis 1 [RCV000232274]|Familial adenomatous polyposis 1 [RCV003534329]|Hereditary cancer-predisposing syndrome [RCV000159559]|not provided [RCV000590729]|not specified [RCV000211922] Chr5:112840957 [GRCh38]
Chr5:112176654 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.705A>G (p.Leu235=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000276575]|Carcinoma of colon [RCV001353583]|Familial adenomatous polyposis 1 [RCV002514368]|Familial adenomatous polyposis 1 [RCV003315600]|Hereditary cancer-predisposing syndrome [RCV000123677]|not provided [RCV000679083]|not specified [RCV000077993] Chr5:112792505 [GRCh38]
Chr5:112128202 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000038.6(APC):c.532-1128G>T single nucleotide variant Familial colorectal cancer [RCV000073921] Chr5:112779662 [GRCh38]
Chr5:112115359 [GRCh37]
Chr5:112143258 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-1110G>T single nucleotide variant Familial colorectal cancer [RCV000073922] Chr5:112779680 [GRCh38]
Chr5:112115377 [GRCh37]
Chr5:112143276 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-463C>T single nucleotide variant Familial colorectal cancer [RCV000073923] Chr5:112780327 [GRCh38]
Chr5:112116024 [GRCh37]
Chr5:112143923 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.532-418G>A single nucleotide variant Familial colorectal cancer [RCV000073924] Chr5:112780372 [GRCh38]
Chr5:112116069 [GRCh37]
Chr5:112143968 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+116G>T single nucleotide variant Familial colorectal cancer [RCV000073925] Chr5:112781019 [GRCh38]
Chr5:112116716 [GRCh37]
Chr5:112144615 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+129A>C single nucleotide variant Familial colorectal cancer [RCV000073926]|not provided [RCV000835979] Chr5:112781032 [GRCh38]
Chr5:112116729 [GRCh37]
Chr5:112144628 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.645+151G>T single nucleotide variant Familial colorectal cancer [RCV000073927] Chr5:112781054 [GRCh38]
Chr5:112116751 [GRCh37]
Chr5:112144650 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+173A>G single nucleotide variant Familial colorectal cancer [RCV000073928]|not provided [RCV001682752] Chr5:112781076 [GRCh38]
Chr5:112116773 [GRCh37]
Chr5:112144672 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.645+541T>A single nucleotide variant Familial colorectal cancer [RCV000073929] Chr5:112781444 [GRCh38]
Chr5:112117141 [GRCh37]
Chr5:112145040 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+572T>C single nucleotide variant Familial colorectal cancer [RCV000073930] Chr5:112781475 [GRCh38]
Chr5:112117172 [GRCh37]
Chr5:112145071 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+574A>T single nucleotide variant Familial colorectal cancer [RCV000073931] Chr5:112781477 [GRCh38]
Chr5:112117174 [GRCh37]
Chr5:112145073 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+792C>A single nucleotide variant Familial colorectal cancer [RCV000073932] Chr5:112781695 [GRCh38]
Chr5:112117392 [GRCh37]
Chr5:112145291 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+794G>T single nucleotide variant Familial colorectal cancer [RCV000073933] Chr5:112781697 [GRCh38]
Chr5:112117394 [GRCh37]
Chr5:112145293 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+875T>C single nucleotide variant Familial colorectal cancer [RCV000073934] Chr5:112781778 [GRCh38]
Chr5:112117475 [GRCh37]
Chr5:112145374 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+1460G>A single nucleotide variant Familial colorectal cancer [RCV000073935] Chr5:112782363 [GRCh38]
Chr5:112118060 [GRCh37]
Chr5:112145959 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+1468C>A single nucleotide variant Familial colorectal cancer [RCV000073936] Chr5:112782371 [GRCh38]
Chr5:112118068 [GRCh37]
Chr5:112145967 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+1595G>A single nucleotide variant Familial colorectal cancer [RCV000073937] Chr5:112782498 [GRCh38]
Chr5:112118195 [GRCh37]
Chr5:112146094 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+1738G>A single nucleotide variant Familial colorectal cancer [RCV000073938] Chr5:112782641 [GRCh38]
Chr5:112118338 [GRCh37]
Chr5:112146237 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2356C>T single nucleotide variant Familial colorectal cancer [RCV000073939] Chr5:112783259 [GRCh38]
Chr5:112118956 [GRCh37]
Chr5:112146855 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2532T>G single nucleotide variant Familial colorectal cancer [RCV000073940] Chr5:112783435 [GRCh38]
Chr5:112119132 [GRCh37]
Chr5:112147031 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2607A>C single nucleotide variant Familial colorectal cancer [RCV000073941] Chr5:112783510 [GRCh38]
Chr5:112119207 [GRCh37]
Chr5:112147106 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2702C>A single nucleotide variant Familial colorectal cancer [RCV000073942] Chr5:112783605 [GRCh38]
Chr5:112119302 [GRCh37]
Chr5:112147201 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2922A>T single nucleotide variant Familial colorectal cancer [RCV000073943] Chr5:112783825 [GRCh38]
Chr5:112119522 [GRCh37]
Chr5:112147421 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2923C>A single nucleotide variant Familial colorectal cancer [RCV000073944] Chr5:112783826 [GRCh38]
Chr5:112119523 [GRCh37]
Chr5:112147422 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2924C>A single nucleotide variant Familial colorectal cancer [RCV000073945] Chr5:112783827 [GRCh38]
Chr5:112119524 [GRCh37]
Chr5:112147423 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2955G>A single nucleotide variant Familial colorectal cancer [RCV000073946] Chr5:112783858 [GRCh38]
Chr5:112119555 [GRCh37]
Chr5:112147454 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+2956T>A single nucleotide variant Familial colorectal cancer [RCV000073947] Chr5:112783859 [GRCh38]
Chr5:112119556 [GRCh37]
Chr5:112147455 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3066G>T single nucleotide variant Familial colorectal cancer [RCV000073948] Chr5:112783969 [GRCh38]
Chr5:112119666 [GRCh37]
Chr5:112147565 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+3449G>C single nucleotide variant Familial colorectal cancer [RCV000073949] Chr5:112784352 [GRCh38]
Chr5:112120049 [GRCh37]
Chr5:112147948 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+4367G>T single nucleotide variant Familial colorectal cancer [RCV000073950] Chr5:112785270 [GRCh38]
Chr5:112120967 [GRCh37]
Chr5:112148866 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+4368C>T single nucleotide variant Familial colorectal cancer [RCV000073951] Chr5:112785271 [GRCh38]
Chr5:112120968 [GRCh37]
Chr5:112148867 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+4547C>A single nucleotide variant Familial colorectal cancer [RCV000073952] Chr5:112785450 [GRCh38]
Chr5:112121147 [GRCh37]
Chr5:112149046 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+4775C>A single nucleotide variant Familial colorectal cancer [RCV000073953] Chr5:112785678 [GRCh38]
Chr5:112121375 [GRCh37]
Chr5:112149274 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.645+5258C>A single nucleotide variant Familial colorectal cancer [RCV000073954] Chr5:112786161 [GRCh38]
Chr5:112121858 [GRCh37]
Chr5:112149757 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-5611G>C single nucleotide variant Familial colorectal cancer [RCV000073955] Chr5:112786835 [GRCh38]
Chr5:112122532 [GRCh37]
Chr5:112150431 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-5554T>C single nucleotide variant Familial colorectal cancer [RCV000073956] Chr5:112786892 [GRCh38]
Chr5:112122589 [GRCh37]
Chr5:112150488 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-5274G>C single nucleotide variant Familial colorectal cancer [RCV000073957] Chr5:112787172 [GRCh38]
Chr5:112122869 [GRCh37]
Chr5:112150768 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-5193G>T single nucleotide variant Familial colorectal cancer [RCV000073958] Chr5:112787253 [GRCh38]
Chr5:112122950 [GRCh37]
Chr5:112150849 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-5189C>T single nucleotide variant Familial colorectal cancer [RCV000073959] Chr5:112787257 [GRCh38]
Chr5:112122954 [GRCh37]
Chr5:112150853 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4934A>G single nucleotide variant Familial colorectal cancer [RCV000073960] Chr5:112787512 [GRCh38]
Chr5:112123209 [GRCh37]
Chr5:112151108 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4667G>T single nucleotide variant Familial colorectal cancer [RCV000073961] Chr5:112787779 [GRCh38]
Chr5:112123476 [GRCh37]
Chr5:112151375 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4665G>T single nucleotide variant Familial colorectal cancer [RCV000073962] Chr5:112787781 [GRCh38]
Chr5:112123478 [GRCh37]
Chr5:112151377 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4545A>G single nucleotide variant Familial colorectal cancer [RCV000073963] Chr5:112787901 [GRCh38]
Chr5:112123598 [GRCh37]
Chr5:112151497 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4395C>A single nucleotide variant Familial colorectal cancer [RCV000073964] Chr5:112788051 [GRCh38]
Chr5:112123748 [GRCh37]
Chr5:112151647 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4096G>T single nucleotide variant Familial colorectal cancer [RCV000073965] Chr5:112788350 [GRCh38]
Chr5:112124047 [GRCh37]
Chr5:112151946 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4015T>C single nucleotide variant Familial colorectal cancer [RCV000073966] Chr5:112788431 [GRCh38]
Chr5:112124128 [GRCh37]
Chr5:112152027 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4010G>A single nucleotide variant Familial colorectal cancer [RCV000073967] Chr5:112788436 [GRCh38]
Chr5:112124133 [GRCh37]
Chr5:112152032 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-4009A>C single nucleotide variant Familial colorectal cancer [RCV000073968] Chr5:112788437 [GRCh38]
Chr5:112124134 [GRCh37]
Chr5:112152033 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-3774T>C single nucleotide variant Familial colorectal cancer [RCV000073969] Chr5:112788672 [GRCh38]
Chr5:112124369 [GRCh37]
Chr5:112152268 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-3762T>C single nucleotide variant Familial colorectal cancer [RCV000073970] Chr5:112788684 [GRCh38]
Chr5:112124381 [GRCh37]
Chr5:112152280 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-3040C>T single nucleotide variant Familial colorectal cancer [RCV000073971] Chr5:112789406 [GRCh38]
Chr5:112125103 [GRCh37]
Chr5:112153002 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-3037C>T single nucleotide variant Familial colorectal cancer [RCV000073972] Chr5:112789409 [GRCh38]
Chr5:112125106 [GRCh37]
Chr5:112153005 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-3035A>T single nucleotide variant Familial colorectal cancer [RCV000073973] Chr5:112789411 [GRCh38]
Chr5:112125108 [GRCh37]
Chr5:112153007 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2724A>G single nucleotide variant Familial colorectal cancer [RCV000073974] Chr5:112789722 [GRCh38]
Chr5:112125419 [GRCh37]
Chr5:112153318 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2576T>C single nucleotide variant Familial colorectal cancer [RCV000073975] Chr5:112789870 [GRCh38]
Chr5:112125567 [GRCh37]
Chr5:112153466 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2575C>T single nucleotide variant Familial colorectal cancer [RCV000073976] Chr5:112789871 [GRCh38]
Chr5:112125568 [GRCh37]
Chr5:112153467 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2481T>A single nucleotide variant Familial colorectal cancer [RCV000073977] Chr5:112789965 [GRCh38]
Chr5:112125662 [GRCh37]
Chr5:112153561 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2478T>C single nucleotide variant Familial colorectal cancer [RCV000073978] Chr5:112789968 [GRCh38]
Chr5:112125665 [GRCh37]
Chr5:112153564 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2133T>G single nucleotide variant Familial colorectal cancer [RCV000073979] Chr5:112790313 [GRCh38]
Chr5:112126010 [GRCh37]
Chr5:112153909 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2123G>T single nucleotide variant Familial colorectal cancer [RCV000073980] Chr5:112790323 [GRCh38]
Chr5:112126020 [GRCh37]
Chr5:112153919 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-2105G>T single nucleotide variant Familial colorectal cancer [RCV000073981] Chr5:112790341 [GRCh38]
Chr5:112126038 [GRCh37]
Chr5:112153937 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1833G>C single nucleotide variant Familial colorectal cancer [RCV000073982] Chr5:112790613 [GRCh38]
Chr5:112126310 [GRCh37]
Chr5:112154209 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1798T>C single nucleotide variant Familial colorectal cancer [RCV000073983] Chr5:112790648 [GRCh38]
Chr5:112126345 [GRCh37]
Chr5:112154244 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1550C>A single nucleotide variant Familial colorectal cancer [RCV000073984] Chr5:112790896 [GRCh38]
Chr5:112126593 [GRCh37]
Chr5:112154492 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1466T>G single nucleotide variant Familial colorectal cancer [RCV000073985] Chr5:112790980 [GRCh38]
Chr5:112126677 [GRCh37]
Chr5:112154576 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1465A>T single nucleotide variant Familial colorectal cancer [RCV000073986] Chr5:112790981 [GRCh38]
Chr5:112126678 [GRCh37]
Chr5:112154577 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1464T>G single nucleotide variant Familial colorectal cancer [RCV000073987] Chr5:112790982 [GRCh38]
Chr5:112126679 [GRCh37]
Chr5:112154578 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-755A>T single nucleotide variant Familial colorectal cancer [RCV000073988] Chr5:112791691 [GRCh38]
Chr5:112127388 [GRCh37]
Chr5:112155287 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-754G>A single nucleotide variant Familial colorectal cancer [RCV000073989] Chr5:112791692 [GRCh38]
Chr5:112127389 [GRCh37]
Chr5:112155288 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-721A>T single nucleotide variant Familial colorectal cancer [RCV000073990] Chr5:112791725 [GRCh38]
Chr5:112127422 [GRCh37]
Chr5:112155321 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-684T>C single nucleotide variant Familial colorectal cancer [RCV000073991] Chr5:112791762 [GRCh38]
Chr5:112127459 [GRCh37]
Chr5:112155358 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-309T>G single nucleotide variant Familial colorectal cancer [RCV000073992] Chr5:112792137 [GRCh38]
Chr5:112127834 [GRCh37]
Chr5:112155733 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-85C>T single nucleotide variant Familial colorectal cancer [RCV000073993] Chr5:112792361 [GRCh38]
Chr5:112128058 [GRCh37]
Chr5:112155957 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-75G>T single nucleotide variant Familial colorectal cancer [RCV000073994] Chr5:112792371 [GRCh38]
Chr5:112128068 [GRCh37]
Chr5:112155967 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.646-1G>T single nucleotide variant Familial colorectal cancer [RCV000073995] Chr5:112792445 [GRCh38]
Chr5:112128142 [GRCh37]
Chr5:112156041 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+968A>T single nucleotide variant Familial colorectal cancer [RCV000073996] Chr5:112793497 [GRCh38]
Chr5:112129194 [GRCh37]
Chr5:112157093 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+969C>A single nucleotide variant Familial colorectal cancer [RCV000073997] Chr5:112793498 [GRCh38]
Chr5:112129195 [GRCh37]
Chr5:112157094 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1528G>A single nucleotide variant Familial colorectal cancer [RCV000073998] Chr5:112794057 [GRCh38]
Chr5:112129754 [GRCh37]
Chr5:112157653 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1830C>G single nucleotide variant Familial colorectal cancer [RCV000073999] Chr5:112794359 [GRCh38]
Chr5:112130056 [GRCh37]
Chr5:112157955 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1832T>G single nucleotide variant Familial colorectal cancer [RCV000074000] Chr5:112794361 [GRCh38]
Chr5:112130058 [GRCh37]
Chr5:112157957 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+1860C>A single nucleotide variant Familial colorectal cancer [RCV000074001] Chr5:112794389 [GRCh38]
Chr5:112130086 [GRCh37]
Chr5:112157985 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2014C>A single nucleotide variant Familial colorectal cancer [RCV000074002] Chr5:112794543 [GRCh38]
Chr5:112130240 [GRCh37]
Chr5:112158139 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2019G>C single nucleotide variant Familial colorectal cancer [RCV000074003] Chr5:112794548 [GRCh38]
Chr5:112130245 [GRCh37]
Chr5:112158144 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2220T>C single nucleotide variant Familial colorectal cancer [RCV000074004] Chr5:112794749 [GRCh38]
Chr5:112130446 [GRCh37]
Chr5:112158345 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2222C>A single nucleotide variant Familial colorectal cancer [RCV000074005] Chr5:112794751 [GRCh38]
Chr5:112130448 [GRCh37]
Chr5:112158347 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+2776C>A single nucleotide variant Familial colorectal cancer [RCV000074006] Chr5:112795305 [GRCh38]
Chr5:112131002 [GRCh37]
Chr5:112158901 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+3062A>G single nucleotide variant Familial colorectal cancer [RCV000074007] Chr5:112795591 [GRCh38]
Chr5:112131288 [GRCh37]
Chr5:112159187 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+3561A>G single nucleotide variant Familial colorectal cancer [RCV000074008] Chr5:112796090 [GRCh38]
Chr5:112131787 [GRCh37]
Chr5:112159686 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.729+4308A>T single nucleotide variant Familial colorectal cancer [RCV000074009] Chr5:112796837 [GRCh38]
Chr5:112132534 [GRCh37]
Chr5:112160433 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-4269T>A single nucleotide variant Familial colorectal cancer [RCV000074010] Chr5:112797010 [GRCh38]
Chr5:112132707 [GRCh37]
Chr5:112160606 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2883G>T single nucleotide variant Familial colorectal cancer [RCV000074011] Chr5:112798396 [GRCh38]
Chr5:112134093 [GRCh37]
Chr5:112161992 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2658A>G single nucleotide variant Familial colorectal cancer [RCV000074012] Chr5:112798621 [GRCh38]
Chr5:112134318 [GRCh37]
Chr5:112162217 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2624C>A single nucleotide variant Familial colorectal cancer [RCV000074013] Chr5:112798655 [GRCh38]
Chr5:112134352 [GRCh37]
Chr5:112162251 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2473G>T single nucleotide variant Familial colorectal cancer [RCV000074014] Chr5:112798806 [GRCh38]
Chr5:112134503 [GRCh37]
Chr5:112162402 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2333A>C single nucleotide variant Familial colorectal cancer [RCV000074015] Chr5:112798946 [GRCh38]
Chr5:112134643 [GRCh37]
Chr5:112162542 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2236C>A single nucleotide variant Familial colorectal cancer [RCV000074016] Chr5:112799043 [GRCh38]
Chr5:112134740 [GRCh37]
Chr5:112162639 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2198C>G single nucleotide variant Familial colorectal cancer [RCV000074017] Chr5:112799081 [GRCh38]
Chr5:112134778 [GRCh37]
Chr5:112162677 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-2196C>G single nucleotide variant Familial colorectal cancer [RCV000074018] Chr5:112799083 [GRCh38]
Chr5:112134780 [GRCh37]
Chr5:112162679 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1909T>C single nucleotide variant Familial colorectal cancer [RCV000074019] Chr5:112799370 [GRCh38]
Chr5:112135067 [GRCh37]
Chr5:112162966 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1886G>A single nucleotide variant Familial colorectal cancer [RCV000074020] Chr5:112799393 [GRCh38]
Chr5:112135090 [GRCh37]
Chr5:112162989 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1879T>C single nucleotide variant Familial colorectal cancer [RCV000074021] Chr5:112799400 [GRCh38]
Chr5:112135097 [GRCh37]
Chr5:112162996 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1797C>G single nucleotide variant Familial colorectal cancer [RCV000074022] Chr5:112799482 [GRCh38]
Chr5:112135179 [GRCh37]
Chr5:112163078 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1477T>A single nucleotide variant Familial colorectal cancer [RCV000074023] Chr5:112799802 [GRCh38]
Chr5:112135499 [GRCh37]
Chr5:112163398 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1255T>A single nucleotide variant Familial colorectal cancer [RCV000074024] Chr5:112800024 [GRCh38]
Chr5:112135721 [GRCh37]
Chr5:112163620 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-1239A>G single nucleotide variant Familial colorectal cancer [RCV000074025] Chr5:112800040 [GRCh38]
Chr5:112135737 [GRCh37]
Chr5:112163636 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-772A>G single nucleotide variant Familial colorectal cancer [RCV000074026] Chr5:112800507 [GRCh38]
Chr5:112136204 [GRCh37]
Chr5:112164103 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-565G>T single nucleotide variant Familial colorectal cancer [RCV000074027] Chr5:112800714 [GRCh38]
Chr5:112136411 [GRCh37]
Chr5:112164310 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-165C>T single nucleotide variant Familial colorectal cancer [RCV000074028] Chr5:112801114 [GRCh38]
Chr5:112136811 [GRCh37]
Chr5:112164710 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-163C>T single nucleotide variant Familial colorectal cancer [RCV000074029] Chr5:112801116 [GRCh38]
Chr5:112136813 [GRCh37]
Chr5:112164712 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-162C>G single nucleotide variant Familial colorectal cancer [RCV000074030] Chr5:112801117 [GRCh38]
Chr5:112136814 [GRCh37]
Chr5:112164713 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-130C>G single nucleotide variant Familial colorectal cancer [RCV000074031] Chr5:112801149 [GRCh38]
Chr5:112136846 [GRCh37]
Chr5:112164745 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.730-128G>T single nucleotide variant Familial colorectal cancer [RCV000074032] Chr5:112801151 [GRCh38]
Chr5:112136848 [GRCh37]
Chr5:112164747 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+1109G>A single nucleotide variant Familial colorectal cancer [RCV000074033] Chr5:112802492 [GRCh38]
Chr5:112138189 [GRCh37]
Chr5:112166088 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+1163G>A single nucleotide variant Familial colorectal cancer [RCV000074034] Chr5:112802546 [GRCh38]
Chr5:112138243 [GRCh37]
Chr5:112166142 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+1654G>A single nucleotide variant Familial colorectal cancer [RCV000074035] Chr5:112803037 [GRCh38]
Chr5:112138734 [GRCh37]
Chr5:112166633 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+1808G>C single nucleotide variant Familial colorectal cancer [RCV000074036] Chr5:112803191 [GRCh38]
Chr5:112138888 [GRCh37]
Chr5:112166787 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+2554A>C single nucleotide variant Familial colorectal cancer [RCV000074037] Chr5:112803937 [GRCh38]
Chr5:112139634 [GRCh37]
Chr5:112167533 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+2665A>G single nucleotide variant Familial colorectal cancer [RCV000074038] Chr5:112804048 [GRCh38]
Chr5:112139745 [GRCh37]
Chr5:112167644 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3276T>G single nucleotide variant Familial colorectal cancer [RCV000074039] Chr5:112804659 [GRCh38]
Chr5:112140356 [GRCh37]
Chr5:112168255 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3389T>C single nucleotide variant Familial colorectal cancer [RCV000074040] Chr5:112804772 [GRCh38]
Chr5:112140469 [GRCh37]
Chr5:112168368 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3490T>G single nucleotide variant Familial colorectal cancer [RCV000074041] Chr5:112804873 [GRCh38]
Chr5:112140570 [GRCh37]
Chr5:112168469 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3510A>G single nucleotide variant Familial colorectal cancer [RCV000074042] Chr5:112804893 [GRCh38]
Chr5:112140590 [GRCh37]
Chr5:112168489 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3625T>A single nucleotide variant Familial colorectal cancer [RCV000074043] Chr5:112805008 [GRCh38]
Chr5:112140705 [GRCh37]
Chr5:112168604 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+3669A>G single nucleotide variant Familial colorectal cancer [RCV000074044] Chr5:112805052 [GRCh38]
Chr5:112140749 [GRCh37]
Chr5:112168648 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4073G>A single nucleotide variant Familial colorectal cancer [RCV000074045] Chr5:112805456 [GRCh38]
Chr5:112141153 [GRCh37]
Chr5:112169052 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4330C>A single nucleotide variant Familial colorectal cancer [RCV000074046] Chr5:112805713 [GRCh38]
Chr5:112141410 [GRCh37]
Chr5:112169309 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4667T>C single nucleotide variant Familial colorectal cancer [RCV000074047] Chr5:112806050 [GRCh38]
Chr5:112141747 [GRCh37]
Chr5:112169646 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4671A>C single nucleotide variant Familial colorectal cancer [RCV000074048] Chr5:112806054 [GRCh38]
Chr5:112141751 [GRCh37]
Chr5:112169650 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4674A>C single nucleotide variant Familial colorectal cancer [RCV000074049] Chr5:112806057 [GRCh38]
Chr5:112141754 [GRCh37]
Chr5:112169653 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4788G>C single nucleotide variant Familial colorectal cancer [RCV000074050] Chr5:112806171 [GRCh38]
Chr5:112141868 [GRCh37]
Chr5:112169767 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4789A>C single nucleotide variant Familial colorectal cancer [RCV000074051] Chr5:112806172 [GRCh38]
Chr5:112141869 [GRCh37]
Chr5:112169768 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+4802T>C single nucleotide variant Familial colorectal cancer [RCV000074052] Chr5:112806185 [GRCh38]
Chr5:112141882 [GRCh37]
Chr5:112169781 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5281G>C single nucleotide variant Familial colorectal cancer [RCV000074053] Chr5:112806664 [GRCh38]
Chr5:112142361 [GRCh37]
Chr5:112170260 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5284T>C single nucleotide variant Familial colorectal cancer [RCV000074054] Chr5:112806667 [GRCh38]
Chr5:112142364 [GRCh37]
Chr5:112170263 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5293C>A single nucleotide variant Familial colorectal cancer [RCV000074055] Chr5:112806676 [GRCh38]
Chr5:112142373 [GRCh37]
Chr5:112170272 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5415G>T single nucleotide variant Familial colorectal cancer [RCV000074056] Chr5:112806798 [GRCh38]
Chr5:112142495 [GRCh37]
Chr5:112170394 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5754A>G single nucleotide variant Familial colorectal cancer [RCV000074057] Chr5:112807137 [GRCh38]
Chr5:112142834 [GRCh37]
Chr5:112170733 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+5758A>G single nucleotide variant Familial colorectal cancer [RCV000074058] Chr5:112807141 [GRCh38]
Chr5:112142838 [GRCh37]
Chr5:112170737 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.834+6943A>G single nucleotide variant Familial colorectal cancer [RCV000074059] Chr5:112808326 [GRCh38]
Chr5:112144023 [GRCh37]
Chr5:112171922 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-6748A>T single nucleotide variant Familial colorectal cancer [RCV000074060] Chr5:112808747 [GRCh38]
Chr5:112144444 [GRCh37]
Chr5:112172343 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-6609G>T single nucleotide variant Familial colorectal cancer [RCV000074061] Chr5:112808886 [GRCh38]
Chr5:112144583 [GRCh37]
Chr5:112172482 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-6238T>C single nucleotide variant Familial colorectal cancer [RCV000074062] Chr5:112809257 [GRCh38]
Chr5:112144954 [GRCh37]
Chr5:112172853 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-6094T>A single nucleotide variant Familial colorectal cancer [RCV000074063] Chr5:112809401 [GRCh38]
Chr5:112145098 [GRCh37]
Chr5:112172997 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-5931C>A single nucleotide variant Familial colorectal cancer [RCV000074064] Chr5:112809564 [GRCh38]
Chr5:112145261 [GRCh37]
Chr5:112173160 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-5500C>A single nucleotide variant Familial colorectal cancer [RCV000074065] Chr5:112809995 [GRCh38]
Chr5:112145692 [GRCh37]
Chr5:112173591 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-5435A>G single nucleotide variant Familial colorectal cancer [RCV000074066] Chr5:112810060 [GRCh38]
Chr5:112145757 [GRCh37]
Chr5:112173656 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-5434G>T single nucleotide variant Familial colorectal cancer [RCV000074067] Chr5:112810061 [GRCh38]
Chr5:112145758 [GRCh37]
Chr5:112173657 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-5133G>T single nucleotide variant Familial colorectal cancer [RCV000074068] Chr5:112810362 [GRCh38]
Chr5:112146059 [GRCh37]
Chr5:112173958 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-5075A>G single nucleotide variant Familial colorectal cancer [RCV000074069] Chr5:112810420 [GRCh38]
Chr5:112146117 [GRCh37]
Chr5:112174016 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4995T>G single nucleotide variant Familial colorectal cancer [RCV000074070] Chr5:112810500 [GRCh38]
Chr5:112146197 [GRCh37]
Chr5:112174096 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4672G>T single nucleotide variant Familial colorectal cancer [RCV000074071] Chr5:112810823 [GRCh38]
Chr5:112146520 [GRCh37]
Chr5:112174419 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4492C>A single nucleotide variant Familial colorectal cancer [RCV000074072] Chr5:112811003 [GRCh38]
Chr5:112146700 [GRCh37]
Chr5:112174599 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4336G>T single nucleotide variant Familial colorectal cancer [RCV000074073] Chr5:112811159 [GRCh38]
Chr5:112146856 [GRCh37]
Chr5:112174755 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-4090G>T single nucleotide variant Familial colorectal cancer [RCV000074074] Chr5:112811405 [GRCh38]
Chr5:112147102 [GRCh37]
Chr5:112175001 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-3245C>A single nucleotide variant Familial colorectal cancer [RCV000074075] Chr5:112812250 [GRCh38]
Chr5:112147947 [GRCh37]
Chr5:112175846 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1841G>C single nucleotide variant Familial colorectal cancer [RCV000074076] Chr5:112813654 [GRCh38]
Chr5:112149351 [GRCh37]
Chr5:112177250 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1818G>T single nucleotide variant Familial colorectal cancer [RCV000074077] Chr5:112813677 [GRCh38]
Chr5:112149374 [GRCh37]
Chr5:112177273 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1435T>C single nucleotide variant Familial colorectal cancer [RCV000074078] Chr5:112814060 [GRCh38]
Chr5:112149757 [GRCh37]
Chr5:112177656 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1318C>A single nucleotide variant Familial colorectal cancer [RCV000074079] Chr5:112814177 [GRCh38]
Chr5:112149874 [GRCh37]
Chr5:112177773 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1265A>G single nucleotide variant Familial colorectal cancer [RCV000074080] Chr5:112814230 [GRCh38]
Chr5:112149927 [GRCh37]
Chr5:112177826 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-1223C>T single nucleotide variant Familial colorectal cancer [RCV000074081] Chr5:112814272 [GRCh38]
Chr5:112149969 [GRCh37]
Chr5:112177868 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-998C>A single nucleotide variant Familial colorectal cancer [RCV000074082] Chr5:112814497 [GRCh38]
Chr5:112150194 [GRCh37]
Chr5:112178093 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-989C>A single nucleotide variant Familial colorectal cancer [RCV000074083] Chr5:112814506 [GRCh38]
Chr5:112150203 [GRCh37]
Chr5:112178102 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-963C>A single nucleotide variant Familial colorectal cancer [RCV000074084] Chr5:112814532 [GRCh38]
Chr5:112150229 [GRCh37]
Chr5:112178128 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-731A>C single nucleotide variant Familial colorectal cancer [RCV000074085] Chr5:112814764 [GRCh38]
Chr5:112150461 [GRCh37]
Chr5:112178360 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-730A>C single nucleotide variant Familial colorectal cancer [RCV000074086] Chr5:112814765 [GRCh38]
Chr5:112150462 [GRCh37]
Chr5:112178361 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-728G>A single nucleotide variant Familial colorectal cancer [RCV000074087] Chr5:112814767 [GRCh38]
Chr5:112150464 [GRCh37]
Chr5:112178363 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.835-727A>C single nucleotide variant Familial colorectal cancer [RCV000074088] Chr5:112814768 [GRCh38]
Chr5:112150465 [GRCh37]
Chr5:112178364 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+544T>G single nucleotide variant Familial colorectal cancer [RCV000074089] Chr5:112816137 [GRCh38]
Chr5:112151834 [GRCh37]
Chr5:112179733 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+934C>G single nucleotide variant Familial colorectal cancer [RCV000074090] Chr5:112816527 [GRCh38]
Chr5:112152224 [GRCh37]
Chr5:112180123 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+937A>C single nucleotide variant Familial colorectal cancer [RCV000074091] Chr5:112816530 [GRCh38]
Chr5:112152227 [GRCh37]
Chr5:112180126 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+942T>C single nucleotide variant Familial colorectal cancer [RCV000074092] Chr5:112816535 [GRCh38]
Chr5:112152232 [GRCh37]
Chr5:112180131 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+943G>T single nucleotide variant Familial colorectal cancer [RCV000074093] Chr5:112816536 [GRCh38]
Chr5:112152233 [GRCh37]
Chr5:112180132 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+1206A>G single nucleotide variant Familial colorectal cancer [RCV000074097] Chr5:112816799 [GRCh38]
Chr5:112152496 [GRCh37]
Chr5:112180395 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+1192C>A single nucleotide variant Familial colorectal cancer [RCV000074094] Chr5:112816785 [GRCh38]
Chr5:112152482 [GRCh37]
Chr5:112180381 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+1200C>A single nucleotide variant Familial colorectal cancer [RCV000074095] Chr5:112816793 [GRCh38]
Chr5:112152490 [GRCh37]
Chr5:112180389 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+1205G>A single nucleotide variant Familial colorectal cancer [RCV000074096] Chr5:112816798 [GRCh38]
Chr5:112152495 [GRCh37]
Chr5:112180394 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.933+1630C>T single nucleotide variant Familial colorectal cancer [RCV000074098] Chr5:112817223 [GRCh38]
Chr5:112152920 [GRCh37]
Chr5:112180819 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-1544C>T single nucleotide variant Familial colorectal cancer [RCV000074099] Chr5:112817422 [GRCh38]
Chr5:112153119 [GRCh37]
Chr5:112181018 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-1491C>A single nucleotide variant Familial colorectal cancer [RCV000074100] Chr5:112817475 [GRCh38]
Chr5:112153172 [GRCh37]
Chr5:112181071 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-1168A>G single nucleotide variant Familial colorectal cancer [RCV000074101] Chr5:112817798 [GRCh38]
Chr5:112153495 [GRCh37]
Chr5:112181394 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-998C>T single nucleotide variant Familial colorectal cancer [RCV000074102] Chr5:112817968 [GRCh38]
Chr5:112153665 [GRCh37]
Chr5:112181564 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-960A>G single nucleotide variant Familial colorectal cancer [RCV000074103] Chr5:112818006 [GRCh38]
Chr5:112153703 [GRCh37]
Chr5:112181602 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-906T>C single nucleotide variant Familial colorectal cancer [RCV000074104] Chr5:112818060 [GRCh38]
Chr5:112153757 [GRCh37]
Chr5:112181656 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-802C>A single nucleotide variant Familial colorectal cancer [RCV000074105] Chr5:112818164 [GRCh38]
Chr5:112153861 [GRCh37]
Chr5:112181760 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-775C>T single nucleotide variant Familial colorectal cancer [RCV000074106] Chr5:112818191 [GRCh38]
Chr5:112153888 [GRCh37]
Chr5:112181787 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-667C>G single nucleotide variant Familial colorectal cancer [RCV000074107] Chr5:112818299 [GRCh38]
Chr5:112153996 [GRCh37]
Chr5:112181895 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-509T>A single nucleotide variant Familial colorectal cancer [RCV000074108] Chr5:112818457 [GRCh38]
Chr5:112154154 [GRCh37]
Chr5:112182053 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-508T>C single nucleotide variant Familial colorectal cancer [RCV000074109] Chr5:112818458 [GRCh38]
Chr5:112154155 [GRCh37]
Chr5:112182054 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-360T>G single nucleotide variant Familial colorectal cancer [RCV000074110] Chr5:112818606 [GRCh38]
Chr5:112154303 [GRCh37]
Chr5:112182202 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.934-132G>T single nucleotide variant Familial colorectal cancer [RCV000074111]|not provided [RCV001689612] Chr5:112818834 [GRCh38]
Chr5:112154531 [GRCh37]
Chr5:112182430 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.934-119C>G single nucleotide variant Familial colorectal cancer [RCV000074112] Chr5:112818847 [GRCh38]
Chr5:112154544 [GRCh37]
Chr5:112182443 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1021C>A (p.Gln341Lys) single nucleotide variant Familial colorectal cancer [RCV000074113] Chr5:112819053 [GRCh38]
Chr5:112154750 [GRCh37]
Chr5:112182649 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1274A>G (p.Glu425Gly) single nucleotide variant Familial colorectal cancer [RCV000074114] Chr5:112819306 [GRCh38]
Chr5:112155003 [GRCh37]
Chr5:112182902 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+369C>A single nucleotide variant Familial colorectal cancer [RCV000074115] Chr5:112819713 [GRCh38]
Chr5:112155410 [GRCh37]
Chr5:112183309 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+463C>G single nucleotide variant Familial colorectal cancer [RCV000074116] Chr5:112819807 [GRCh38]
Chr5:112155504 [GRCh37]
Chr5:112183403 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+752G>C single nucleotide variant Familial colorectal cancer [RCV000074117] Chr5:112820096 [GRCh38]
Chr5:112155793 [GRCh37]
Chr5:112183692 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+1039T>G single nucleotide variant Familial colorectal cancer [RCV000074118] Chr5:112820383 [GRCh38]
Chr5:112156080 [GRCh37]
Chr5:112183979 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+1041C>T single nucleotide variant Familial colorectal cancer [RCV000074119] Chr5:112820385 [GRCh38]
Chr5:112156082 [GRCh37]
Chr5:112183981 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+1044G>T single nucleotide variant Familial colorectal cancer [RCV000074120] Chr5:112820388 [GRCh38]
Chr5:112156085 [GRCh37]
Chr5:112183984 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1312+1058C>G single nucleotide variant Familial colorectal cancer [RCV000074121] Chr5:112820402 [GRCh38]
Chr5:112156099 [GRCh37]
Chr5:112183998 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1313-892C>A single nucleotide variant Familial colorectal cancer [RCV000074122] Chr5:112821004 [GRCh38]
Chr5:112156701 [GRCh37]
Chr5:112184600 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1313-730G>C single nucleotide variant Familial colorectal cancer [RCV000074123] Chr5:112821166 [GRCh38]
Chr5:112156863 [GRCh37]
Chr5:112184762 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+295C>A single nucleotide variant Familial colorectal cancer [RCV000074124] Chr5:112822286 [GRCh38]
Chr5:112157983 [GRCh37]
Chr5:112185882 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+743G>A single nucleotide variant Familial colorectal cancer [RCV000074125]|not provided [RCV001668176] Chr5:112822734 [GRCh38]
Chr5:112158431 [GRCh37]
Chr5:112186330 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.1408+806T>C single nucleotide variant Familial colorectal cancer [RCV000074126] Chr5:112822797 [GRCh38]
Chr5:112158494 [GRCh37]
Chr5:112186393 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+1672A>G single nucleotide variant Familial colorectal cancer [RCV000074127] Chr5:112823663 [GRCh38]
Chr5:112159360 [GRCh37]
Chr5:112187259 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+1697A>G single nucleotide variant Familial colorectal cancer [RCV000074128] Chr5:112823688 [GRCh38]
Chr5:112159385 [GRCh37]
Chr5:112187284 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+1782A>G single nucleotide variant Familial colorectal cancer [RCV000074129] Chr5:112823773 [GRCh38]
Chr5:112159470 [GRCh37]
Chr5:112187369 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+1857A>C single nucleotide variant Familial colorectal cancer [RCV000074130] Chr5:112823848 [GRCh38]
Chr5:112159545 [GRCh37]
Chr5:112187444 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1408+1874A>G single nucleotide variant Familial colorectal cancer [RCV000074131] Chr5:112823865 [GRCh38]
Chr5:112159562 [GRCh37]
Chr5:112187461 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-2531T>A single nucleotide variant Familial colorectal cancer [RCV000074132] Chr5:112824577 [GRCh38]
Chr5:112160274 [GRCh37]
Chr5:112188173 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-2360A>T single nucleotide variant Familial colorectal cancer [RCV000074133] Chr5:112824748 [GRCh38]
Chr5:112160445 [GRCh37]
Chr5:112188344 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-2358T>A single nucleotide variant Familial colorectal cancer [RCV000074134] Chr5:112824750 [GRCh38]
Chr5:112160447 [GRCh37]
Chr5:112188346 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-2343A>T single nucleotide variant Familial colorectal cancer [RCV000074135] Chr5:112824765 [GRCh38]
Chr5:112160462 [GRCh37]
Chr5:112188361 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-2342G>C single nucleotide variant Familial colorectal cancer [RCV000074136] Chr5:112824766 [GRCh38]
Chr5:112160463 [GRCh37]
Chr5:112188362 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-1869T>C single nucleotide variant Familial colorectal cancer [RCV000074137] Chr5:112825239 [GRCh38]
Chr5:112160936 [GRCh37]
Chr5:112188835 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-1860C>A single nucleotide variant Familial colorectal cancer [RCV000074138] Chr5:112825248 [GRCh38]
Chr5:112160945 [GRCh37]
Chr5:112188844 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-1848G>A single nucleotide variant Familial colorectal cancer [RCV000074139] Chr5:112825260 [GRCh38]
Chr5:112160957 [GRCh37]
Chr5:112188856 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-1847T>A single nucleotide variant Familial colorectal cancer [RCV000074140] Chr5:112825261 [GRCh38]
Chr5:112160958 [GRCh37]
Chr5:112188857 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-1336C>A single nucleotide variant Familial colorectal cancer [RCV000074141] Chr5:112825772 [GRCh38]
Chr5:112161469 [GRCh37]
Chr5:112189368 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-935T>G single nucleotide variant Familial colorectal cancer [RCV000074142] Chr5:112826173 [GRCh38]
Chr5:112161870 [GRCh37]
Chr5:112189769 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-934C>T single nucleotide variant Familial colorectal cancer [RCV000074143] Chr5:112826174 [GRCh38]
Chr5:112161871 [GRCh37]
Chr5:112189770 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-506C>A single nucleotide variant Familial colorectal cancer [RCV000074144] Chr5:112826602 [GRCh38]
Chr5:112162299 [GRCh37]
Chr5:112190198 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-422A>T single nucleotide variant Familial colorectal cancer [RCV000074145] Chr5:112826686 [GRCh38]
Chr5:112162383 [GRCh37]
Chr5:112190282 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1409-392A>G single nucleotide variant Familial colorectal cancer [RCV000074146] Chr5:112826716 [GRCh38]
Chr5:112162413 [GRCh37]
Chr5:112190312 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1515G>T (p.Leu505Phe) single nucleotide variant Familial colorectal cancer [RCV000074148] Chr5:112827214 [GRCh38]
Chr5:112162911 [GRCh37]
Chr5:112190810 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1548+298A>T single nucleotide variant Familial colorectal cancer [RCV000074149] Chr5:112827545 [GRCh38]
Chr5:112163242 [GRCh37]
Chr5:112191141 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1626+135T>C single nucleotide variant Familial colorectal cancer [RCV000074150] Chr5:112828141 [GRCh38]
Chr5:112163838 [GRCh37]
Chr5:112191737 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1626+290G>C single nucleotide variant Familial colorectal cancer [RCV000074151] Chr5:112828296 [GRCh38]
Chr5:112163993 [GRCh37]
Chr5:112191892 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1627-315C>T single nucleotide variant Familial colorectal cancer [RCV000074152]|not provided [RCV001636633] Chr5:112828541 [GRCh38]
Chr5:112164238 [GRCh37]
Chr5:112192137 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.1743+193G>A single nucleotide variant Familial colorectal cancer [RCV000074154]|not provided [RCV001596950] Chr5:112829165 [GRCh38]
Chr5:112164862 [GRCh37]
Chr5:112192761 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.1743+299T>G single nucleotide variant Familial colorectal cancer [RCV000074155] Chr5:112829271 [GRCh38]
Chr5:112164968 [GRCh37]
Chr5:112192867 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+344G>T single nucleotide variant Familial colorectal cancer [RCV000074156] Chr5:112829316 [GRCh38]
Chr5:112165013 [GRCh37]
Chr5:112192912 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+347G>T single nucleotide variant Familial colorectal cancer [RCV000074157] Chr5:112829319 [GRCh38]
Chr5:112165016 [GRCh37]
Chr5:112192915 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+349G>T single nucleotide variant Familial colorectal cancer [RCV000074158] Chr5:112829321 [GRCh38]
Chr5:112165018 [GRCh37]
Chr5:112192917 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+445C>A single nucleotide variant Familial colorectal cancer [RCV000074159] Chr5:112829417 [GRCh38]
Chr5:112165114 [GRCh37]
Chr5:112193013 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+972G>A single nucleotide variant Familial colorectal cancer [RCV000074160] Chr5:112829944 [GRCh38]
Chr5:112165641 [GRCh37]
Chr5:112193540 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+973A>G single nucleotide variant Familial colorectal cancer [RCV000074161] Chr5:112829945 [GRCh38]
Chr5:112165642 [GRCh37]
Chr5:112193541 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1053T>C single nucleotide variant Familial colorectal cancer [RCV000074162] Chr5:112830025 [GRCh38]
Chr5:112165722 [GRCh37]
Chr5:112193621 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1378T>A single nucleotide variant Familial colorectal cancer [RCV000074163] Chr5:112830350 [GRCh38]
Chr5:112166047 [GRCh37]
Chr5:112193946 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1535T>A single nucleotide variant Familial colorectal cancer [RCV000074164] Chr5:112830507 [GRCh38]
Chr5:112166204 [GRCh37]
Chr5:112194103 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1539C>A single nucleotide variant Familial colorectal cancer [RCV000074165] Chr5:112830511 [GRCh38]
Chr5:112166208 [GRCh37]
Chr5:112194107 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1544A>C single nucleotide variant Familial colorectal cancer [RCV000074166] Chr5:112830516 [GRCh38]
Chr5:112166213 [GRCh37]
Chr5:112194112 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1623C>A single nucleotide variant Familial colorectal cancer [RCV000074167] Chr5:112830595 [GRCh38]
Chr5:112166292 [GRCh37]
Chr5:112194191 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1737A>G single nucleotide variant Familial colorectal cancer [RCV000074168] Chr5:112830709 [GRCh38]
Chr5:112166406 [GRCh37]
Chr5:112194305 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+1810A>G single nucleotide variant Familial colorectal cancer [RCV000074169] Chr5:112830782 [GRCh38]
Chr5:112166479 [GRCh37]
Chr5:112194378 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2156G>T single nucleotide variant Familial colorectal cancer [RCV000074170] Chr5:112831128 [GRCh38]
Chr5:112166825 [GRCh37]
Chr5:112194724 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2158G>T single nucleotide variant Familial colorectal cancer [RCV000074171] Chr5:112831130 [GRCh38]
Chr5:112166827 [GRCh37]
Chr5:112194726 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2193G>A single nucleotide variant Familial colorectal cancer [RCV000074172] Chr5:112831165 [GRCh38]
Chr5:112166862 [GRCh37]
Chr5:112194761 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2461T>G single nucleotide variant Familial colorectal cancer [RCV000074173] Chr5:112831433 [GRCh38]
Chr5:112167130 [GRCh37]
Chr5:112195029 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1743+2918T>C single nucleotide variant Familial colorectal cancer [RCV000074174] Chr5:112831890 [GRCh38]
Chr5:112167587 [GRCh37]
Chr5:112195486 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2827C>T single nucleotide variant Familial colorectal cancer [RCV000074175] Chr5:112832124 [GRCh38]
Chr5:112167821 [GRCh37]
Chr5:112195720 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2707C>G single nucleotide variant Familial colorectal cancer [RCV000074176] Chr5:112832244 [GRCh38]
Chr5:112167941 [GRCh37]
Chr5:112195840 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2583A>G single nucleotide variant Familial colorectal cancer [RCV000074177] Chr5:112832368 [GRCh38]
Chr5:112168065 [GRCh37]
Chr5:112195964 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2518G>C single nucleotide variant Familial colorectal cancer [RCV000074178] Chr5:112832433 [GRCh38]
Chr5:112168130 [GRCh37]
Chr5:112196029 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2269T>C single nucleotide variant Familial colorectal cancer [RCV000074179] Chr5:112832682 [GRCh38]
Chr5:112168379 [GRCh37]
Chr5:112196278 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2182G>A single nucleotide variant Familial colorectal cancer [RCV000074180] Chr5:112832769 [GRCh38]
Chr5:112168466 [GRCh37]
Chr5:112196365 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2151T>A single nucleotide variant Familial colorectal cancer [RCV000074181] Chr5:112832800 [GRCh38]
Chr5:112168497 [GRCh37]
Chr5:112196396 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2150T>A single nucleotide variant Familial colorectal cancer [RCV000074182] Chr5:112832801 [GRCh38]
Chr5:112168498 [GRCh37]
Chr5:112196397 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-2149T>C single nucleotide variant Familial colorectal cancer [RCV000074183] Chr5:112832802 [GRCh38]
Chr5:112168499 [GRCh37]
Chr5:112196398 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1921T>G single nucleotide variant Familial colorectal cancer [RCV000074184] Chr5:112833030 [GRCh38]
Chr5:112168727 [GRCh37]
Chr5:112196626 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1839C>A single nucleotide variant Familial colorectal cancer [RCV000074185] Chr5:112833112 [GRCh38]
Chr5:112168809 [GRCh37]
Chr5:112196708 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1262G>T single nucleotide variant Familial colorectal cancer [RCV000074186] Chr5:112833689 [GRCh38]
Chr5:112169386 [GRCh37]
Chr5:112197285 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1123T>A single nucleotide variant Familial colorectal cancer [RCV000074187] Chr5:112833828 [GRCh38]
Chr5:112169525 [GRCh37]
Chr5:112197424 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-1024A>G single nucleotide variant Familial colorectal cancer [RCV000074188] Chr5:112833927 [GRCh38]
Chr5:112169624 [GRCh37]
Chr5:112197523 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-758C>G single nucleotide variant Familial colorectal cancer [RCV000074189] Chr5:112834193 [GRCh38]
Chr5:112169890 [GRCh37]
Chr5:112197789 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-690A>T single nucleotide variant Familial colorectal cancer [RCV000074190] Chr5:112834261 [GRCh38]
Chr5:112169958 [GRCh37]
Chr5:112197857 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-577T>G single nucleotide variant Familial colorectal cancer [RCV000074191] Chr5:112834374 [GRCh38]
Chr5:112170071 [GRCh37]
Chr5:112197970 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-574G>A single nucleotide variant Familial colorectal cancer [RCV000074192] Chr5:112834377 [GRCh38]
Chr5:112170074 [GRCh37]
Chr5:112197973 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-569C>A single nucleotide variant Familial colorectal cancer [RCV000074193] Chr5:112834382 [GRCh38]
Chr5:112170079 [GRCh37]
Chr5:112197978 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-566G>C single nucleotide variant Familial colorectal cancer [RCV000074194] Chr5:112834385 [GRCh38]
Chr5:112170082 [GRCh37]
Chr5:112197981 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-564A>C single nucleotide variant Familial colorectal cancer [RCV000074195] Chr5:112834387 [GRCh38]
Chr5:112170084 [GRCh37]
Chr5:112197983 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-486G>T single nucleotide variant Familial colorectal cancer [RCV000074196] Chr5:112834465 [GRCh38]
Chr5:112170162 [GRCh37]
Chr5:112198061 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-485A>T single nucleotide variant Familial colorectal cancer [RCV000074197] Chr5:112834466 [GRCh38]
Chr5:112170163 [GRCh37]
Chr5:112198062 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-427T>G single nucleotide variant Familial colorectal cancer [RCV000074198] Chr5:112834524 [GRCh38]
Chr5:112170221 [GRCh37]
Chr5:112198120 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-363T>A single nucleotide variant Familial colorectal cancer [RCV000074199] Chr5:112834588 [GRCh38]
Chr5:112170285 [GRCh37]
Chr5:112198184 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-290G>A single nucleotide variant Familial colorectal cancer [RCV000074200]|not provided [RCV001668177] Chr5:112834661 [GRCh38]
Chr5:112170358 [GRCh37]
Chr5:112198257 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.1744-213T>A single nucleotide variant Familial colorectal cancer [RCV000074201] Chr5:112834738 [GRCh38]
Chr5:112170435 [GRCh37]
Chr5:112198334 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1744-212G>T single nucleotide variant Familial colorectal cancer [RCV000074202] Chr5:112834739 [GRCh38]
Chr5:112170436 [GRCh37]
Chr5:112198335 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1912A>G (p.Ile638Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV001854267]|Familial colorectal cancer [RCV000074203]|Hereditary cancer-predisposing syndrome [RCV000573010]|not specified [RCV001192945] Chr5:112835119 [GRCh38]
Chr5:112170816 [GRCh37]
Chr5:112198715 [NCBI36]
Chr5:5q22.2		 uncertain significance|other
NM_000038.6(APC):c.1958+235A>G single nucleotide variant Familial colorectal cancer [RCV000074204]|not provided [RCV001711169] Chr5:112835400 [GRCh38]
Chr5:112171097 [GRCh37]
Chr5:112198996 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.1958+378C>A single nucleotide variant Familial colorectal cancer [RCV000074205] Chr5:112835543 [GRCh38]
Chr5:112171240 [GRCh37]
Chr5:112199139 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+388C>T single nucleotide variant Familial colorectal cancer [RCV000074206] Chr5:112835553 [GRCh38]
Chr5:112171250 [GRCh37]
Chr5:112199149 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+392G>T single nucleotide variant Familial colorectal cancer [RCV000074207] Chr5:112835557 [GRCh38]
Chr5:112171254 [GRCh37]
Chr5:112199153 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+689T>G single nucleotide variant Familial colorectal cancer [RCV000074208] Chr5:112835854 [GRCh38]
Chr5:112171551 [GRCh37]
Chr5:112199450 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+707C>A single nucleotide variant Familial colorectal cancer [RCV000074209] Chr5:112835872 [GRCh38]
Chr5:112171569 [GRCh37]
Chr5:112199468 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+729C>A single nucleotide variant Familial colorectal cancer [RCV000074210] Chr5:112835894 [GRCh38]
Chr5:112171591 [GRCh37]
Chr5:112199490 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+730T>A single nucleotide variant Familial colorectal cancer [RCV000074211] Chr5:112835895 [GRCh38]
Chr5:112171592 [GRCh37]
Chr5:112199491 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+826C>A single nucleotide variant Familial colorectal cancer [RCV000074212] Chr5:112835991 [GRCh38]
Chr5:112171688 [GRCh37]
Chr5:112199587 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+829C>A single nucleotide variant Familial colorectal cancer [RCV000074213] Chr5:112835994 [GRCh38]
Chr5:112171691 [GRCh37]
Chr5:112199590 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+860T>C single nucleotide variant Familial colorectal cancer [RCV000074214] Chr5:112836025 [GRCh38]
Chr5:112171722 [GRCh37]
Chr5:112199621 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+861T>C single nucleotide variant Familial colorectal cancer [RCV000074215] Chr5:112836026 [GRCh38]
Chr5:112171723 [GRCh37]
Chr5:112199622 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1958+1015G>A single nucleotide variant Familial colorectal cancer [RCV000074216] Chr5:112836180 [GRCh38]
Chr5:112171877 [GRCh37]
Chr5:112199776 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-1031G>A single nucleotide variant Familial colorectal cancer [RCV000074217] Chr5:112836522 [GRCh38]
Chr5:112172219 [GRCh37]
Chr5:112200118 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-571T>G single nucleotide variant Familial colorectal cancer [RCV000074218] Chr5:112836982 [GRCh38]
Chr5:112172679 [GRCh37]
Chr5:112200578 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-464G>T single nucleotide variant Familial colorectal cancer [RCV000074219] Chr5:112837089 [GRCh38]
Chr5:112172786 [GRCh37]
Chr5:112200685 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-320T>C single nucleotide variant Familial colorectal cancer [RCV000074220] Chr5:112837233 [GRCh38]
Chr5:112172930 [GRCh37]
Chr5:112200829 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-145T>A single nucleotide variant Familial colorectal cancer [RCV000074221] Chr5:112837408 [GRCh38]
Chr5:112173105 [GRCh37]
Chr5:112201004 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-144T>A single nucleotide variant Familial colorectal cancer [RCV000074222] Chr5:112837409 [GRCh38]
Chr5:112173106 [GRCh37]
Chr5:112201005 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-139C>A single nucleotide variant Familial colorectal cancer [RCV000074223] Chr5:112837414 [GRCh38]
Chr5:112173111 [GRCh37]
Chr5:112201010 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1959-138A>G single nucleotide variant Familial colorectal cancer [RCV000074224] Chr5:112837415 [GRCh38]
Chr5:112173112 [GRCh37]
Chr5:112201011 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.2385C>T (p.Leu795=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410266]|Familial colorectal cancer [RCV000074225]|Hereditary cancer-predisposing syndrome [RCV000574420] Chr5:112837979 [GRCh38]
Chr5:112173676 [GRCh37]
Chr5:112201575 [NCBI36]
Chr5:5q22.2		 benign|likely benign|other
NM_000038.6(APC):c.2386T>G (p.Tyr796Asp) single nucleotide variant Familial colorectal cancer [RCV000074226] Chr5:112837980 [GRCh38]
Chr5:112173677 [GRCh37]
Chr5:112201576 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.2404G>T (p.Asp802Tyr) single nucleotide variant Familial colorectal cancer [RCV000074227] Chr5:112837998 [GRCh38]
Chr5:112173695 [GRCh37]
Chr5:112201594 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.2509T>G (p.Ser837Ala) single nucleotide variant Familial colorectal cancer [RCV000074228] Chr5:112838103 [GRCh38]
Chr5:112173800 [GRCh37]
Chr5:112201699 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.2510C>A (p.Ser837Ter) single nucleotide variant Familial colorectal cancer [RCV000074229] Chr5:112838104 [GRCh38]
Chr5:112173801 [GRCh37]
Chr5:112201700 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.2511A>G (p.Ser837=) single nucleotide variant Familial colorectal cancer [RCV000074230] Chr5:112838105 [GRCh38]
Chr5:112173802 [GRCh37]
Chr5:112201701 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.2920G>T (p.Gly974Cys) single nucleotide variant Familial colorectal cancer [RCV000074231] Chr5:112838514 [GRCh38]
Chr5:112174211 [GRCh37]
Chr5:112202110 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.3730C>A (p.Gln1244Lys) single nucleotide variant Familial colorectal cancer [RCV000074232] Chr5:112839324 [GRCh38]
Chr5:112175021 [GRCh37]
Chr5:112202920 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.3766C>A (p.Gln1256Lys) single nucleotide variant Familial colorectal cancer [RCV000074233] Chr5:112839360 [GRCh38]
Chr5:112175057 [GRCh37]
Chr5:112202956 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.5374A>C (p.Asn1792His) single nucleotide variant Familial colorectal cancer [RCV000074237] Chr5:112840968 [GRCh38]
Chr5:112176665 [GRCh37]
Chr5:112204564 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.5376T>A (p.Asn1792Lys) single nucleotide variant Familial colorectal cancer [RCV000074238] Chr5:112840970 [GRCh38]
Chr5:112176667 [GRCh37]
Chr5:112204566 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.5515G>T (p.Ala1839Ser) single nucleotide variant Familial colorectal cancer [RCV000074240] Chr5:112841109 [GRCh38]
Chr5:112176806 [GRCh37]
Chr5:112204705 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.5521G>T (p.Asp1841Tyr) single nucleotide variant Familial colorectal cancer [RCV000074241] Chr5:112841115 [GRCh38]
Chr5:112176812 [GRCh37]
Chr5:112204711 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.7049C>T (p.Ser2350Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650365]|Familial colorectal cancer [RCV000074243] Chr5:112842643 [GRCh38]
Chr5:112178340 [GRCh37]
Chr5:112206239 [NCBI36]
Chr5:5q22.2		 uncertain significance|other
NM_000038.6(APC):c.7050C>A (p.Ser2350=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743558]|Familial colorectal cancer [RCV000074244] Chr5:112842644 [GRCh38]
Chr5:112178341 [GRCh37]
Chr5:112206240 [NCBI36]
Chr5:5q22.2		 likely benign|other
NM_000038.6(APC):c.7973G>T (p.Trp2658Leu) single nucleotide variant Familial colorectal cancer [RCV000074245] Chr5:112843567 [GRCh38]
Chr5:112179264 [GRCh37]
Chr5:112207163 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.8130T>G (p.Ser2710Arg) single nucleotide variant Familial colorectal cancer [RCV000074246] Chr5:112843724 [GRCh38]
Chr5:112179421 [GRCh37]
Chr5:112207320 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.8134C>T (p.Pro2712Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987590]|Familial colorectal cancer [RCV000074247] Chr5:112843728 [GRCh38]
Chr5:112179425 [GRCh37]
Chr5:112207324 [NCBI36]
Chr5:5q22.2		 uncertain significance|other
NM_000038.6(APC):c.*86C>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000383415]|Familial adenomatous polyposis 1 [RCV003764748]|Familial colorectal cancer [RCV000074248]|not provided [RCV001711170]|not specified [RCV000249942] Chr5:112844212 [GRCh38]
Chr5:112179909 [GRCh37]
Chr5:112207808 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.*134C>A single nucleotide variant Familial colorectal cancer [RCV000074249] Chr5:112844260 [GRCh38]
Chr5:112179957 [GRCh37]
Chr5:112207856 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*135T>G single nucleotide variant Familial colorectal cancer [RCV000074250] Chr5:112844261 [GRCh38]
Chr5:112179958 [GRCh37]
Chr5:112207857 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*137G>A single nucleotide variant Familial colorectal cancer [RCV000074251] Chr5:112844263 [GRCh38]
Chr5:112179960 [GRCh37]
Chr5:112207859 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*405C>A single nucleotide variant APC-Associated Polyposis Disorders [RCV001151904]|Familial colorectal cancer [RCV000074252] Chr5:112844531 [GRCh38]
Chr5:112180228 [GRCh37]
Chr5:112208127 [NCBI36]
Chr5:5q22.2		 uncertain significance|other
NM_000038.6(APC):c.*434C>T single nucleotide variant APC-Associated Polyposis Disorders [RCV000313799]|Familial colorectal cancer [RCV000074253] Chr5:112844560 [GRCh38]
Chr5:112180257 [GRCh37]
Chr5:112208156 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.*467A>G single nucleotide variant Familial colorectal cancer [RCV000074254] Chr5:112844593 [GRCh38]
Chr5:112180290 [GRCh37]
Chr5:112208189 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*805C>A single nucleotide variant Familial colorectal cancer [RCV000074255] Chr5:112844931 [GRCh38]
Chr5:112180628 [GRCh37]
Chr5:112208527 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.*1098T>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000380920]|Familial colorectal cancer [RCV000074256] Chr5:112845224 [GRCh38]
Chr5:112180921 [GRCh37]
Chr5:112208820 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.*1460C>T single nucleotide variant APC-Associated Polyposis Disorders [RCV000338471]|Familial colorectal cancer [RCV000074257] Chr5:112845586 [GRCh38]
Chr5:112181283 [GRCh37]
Chr5:112209182 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.*1556C>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000358142]|Familial colorectal cancer [RCV000074258] Chr5:112845682 [GRCh38]
Chr5:112181379 [GRCh37]
Chr5:112209278 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.*1753G>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000304942]|Familial colorectal cancer [RCV000074259] Chr5:112845879 [GRCh38]
Chr5:112181576 [GRCh37]
Chr5:112209475 [NCBI36]
Chr5:5q22.2		 benign|other
NM_000038.6(APC):c.135+2703G>C single nucleotide variant Familial colorectal cancer [RCV000074330] Chr5:112757728 [GRCh38]
Chr5:112093425 [GRCh37]
Chr5:112121324 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.135+3233A>G single nucleotide variant Familial colorectal cancer [RCV000074331] Chr5:112758258 [GRCh38]
Chr5:112093955 [GRCh37]
Chr5:112121854 [NCBI36]
Chr5:5q22.2		 other
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) single nucleotide variant APC-related condition [RCV003925108]|Familial adenomatous polyposis 1 [RCV000234357]|Familial adenomatous polyposis 1 [RCV003534335]|Familial multiple polyposis syndrome [RCV003479005]|Hereditary cancer-predisposing syndrome [RCV000115066]|not provided [RCV000202096] Chr5:112819245 [GRCh38]
Chr5:112154942 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1279C>A (p.His427Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650368]|Hereditary cancer-predisposing syndrome [RCV000708636]|not provided [RCV000766425]|not specified [RCV000115068] Chr5:112819311 [GRCh38]
Chr5:112155008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1462C>T (p.Leu488Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003103727]|Familial adenomatous polyposis 1 [RCV003474708]|Hereditary cancer-predisposing syndrome [RCV000574797]|not provided [RCV000766427]|not specified [RCV000115069] Chr5:112827161 [GRCh38]
Chr5:112162858 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1825G>A (p.Val609Ile) single nucleotide variant Carcinoma of colon [RCV001353927]|Familial adenomatous polyposis 1 [RCV000198802]|Familial adenomatous polyposis 1 [RCV003743561]|Hereditary cancer-predisposing syndrome [RCV000115070]|not provided [RCV000679049]|not specified [RCV000417366] Chr5:112835032 [GRCh38]
Chr5:112170729 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.1912A>T (p.Ile638Leu) single nucleotide variant not specified [RCV000115071] Chr5:112835119 [GRCh38]
Chr5:112170816 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2386T>C (p.Tyr796His) single nucleotide variant not provided [RCV000115072] Chr5:112837980 [GRCh38]
Chr5:112173677 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2413C>T (p.Arg805Ter) single nucleotide variant APC-related condition [RCV003935094]|Desmoid disease, hereditary [RCV001292808]|Familial adenomatous polyposis 1 [RCV001824606]|Familial adenomatous polyposis 1 [RCV003337232]|Familial multiple polyposis syndrome [RCV000501097]|Hereditary cancer-predisposing syndrome [RCV000115073]|not provided [RCV001270020] Chr5:112838007 [GRCh38]
Chr5:112173704 [GRCh37]
Chr5:5q22.2		 pathogenic|not provided
NM_000038.6(APC):c.2942C>G (p.Pro981Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000211505]|Hereditary cancer-predisposing syndrome [RCV000581785]|not provided [RCV000115075]|not specified [RCV000780838] Chr5:112838536 [GRCh38]
Chr5:112174233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3070C>T (p.Pro1024Ser) single nucleotide variant not provided [RCV000115076] Chr5:112838664 [GRCh38]
Chr5:112174361 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3088A>T (p.Lys1030Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764809]|not provided [RCV000115077] Chr5:112838682 [GRCh38]
Chr5:112174379 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3145T>C (p.Trp1049Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003467019]|Hereditary cancer-predisposing syndrome [RCV000569217]|not provided [RCV000115078] Chr5:112838739 [GRCh38]
Chr5:112174436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3275A>C (p.His1092Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000412266]|Familial adenomatous polyposis 1 [RCV003743562]|Hereditary cancer-predisposing syndrome [RCV000570435]|not provided [RCV000115080] Chr5:112838869 [GRCh38]
Chr5:112174566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650369]|Hereditary cancer-predisposing syndrome [RCV000569678]|not provided [RCV000115081]|not specified [RCV001251414] Chr5:112838962 [GRCh38]
Chr5:112174659 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) single nucleotide variant APC-Associated Polyposis Disorders [RCV001154639]|Carcinoma of colon [RCV000677784]|Familial adenomatous polyposis 1 [RCV000411300]|Familial adenomatous polyposis 1 [RCV003534336]|Hereditary cancer-predisposing syndrome [RCV000565031]|not provided [RCV000985246]|not specified [RCV000120024] Chr5:112838972 [GRCh38]
Chr5:112174669 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335099]|Hereditary cancer-predisposing syndrome [RCV003278666]|not provided [RCV000115085] Chr5:112839066 [GRCh38]
Chr5:112174763 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3632T>C (p.Met1211Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764810]|Hereditary cancer-predisposing syndrome [RCV000772714]|not provided [RCV000766434]|not specified [RCV000115086] Chr5:112839226 [GRCh38]
Chr5:112174923 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3935G>C (p.Gly1312Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764811]|Hereditary cancer-predisposing syndrome [RCV000562223]|not provided [RCV000115088] Chr5:112839529 [GRCh38]
Chr5:112175226 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3970C>G (p.Pro1324Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743563]|Hereditary cancer-predisposing syndrome [RCV001021555]|not provided [RCV000115089] Chr5:112839564 [GRCh38]
Chr5:112175261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4217A>G (p.Gln1406Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228226]|Hereditary cancer-predisposing syndrome [RCV000575175]|not provided [RCV000115090] Chr5:112839811 [GRCh38]
Chr5:112175508 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) single nucleotide variant Carcinoma of colon [RCV001354016]|Colorectal adenoma [RCV000148364]|Desmoid disease, hereditary [RCV002483184]|Familial adenomatous polyposis 1 [RCV000987571]|Hereditary cancer-predisposing syndrome [RCV000115091]|not provided [RCV001719856]|not specified [RCV000417367] Chr5:112839930 [GRCh38]
Chr5:112175627 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) single nucleotide variant APC-Associated Polyposis Disorders [RCV000264340]|Colorectal adenoma [RCV000148365]|Familial adenomatous polyposis 1 [RCV000987572]|Familial adenomatous polyposis 1 [RCV003650370]|Familial colorectal cancer [RCV001270348]|Familial multiple polyposis syndrome [RCV000238996]|Hereditary cancer-predisposing syndrome [RCV000115092]|not provided [RCV000586737]|not specified [RCV000200964] Chr5:112839954 [GRCh38]
Chr5:112175651 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.4493A>G (p.Asp1498Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514576]|Familial adenomatous polyposis 1 [RCV003534337]|Hereditary cancer-predisposing syndrome [RCV001022571]|not provided [RCV000115094] Chr5:112840087 [GRCh38]
Chr5:112175784 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4709A>G (p.Asp1570Gly) single nucleotide variant APC-related condition [RCV003935095]|Familial adenomatous polyposis 1 [RCV002228230]|Hereditary cancer-predisposing syndrome [RCV000575957]|not provided [RCV000115095] Chr5:112840303 [GRCh38]
Chr5:112176000 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4766G>A (p.Arg1589His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514577]|Familial adenomatous polyposis 1 [RCV003650371]|Hereditary cancer-predisposing syndrome [RCV000115096]|not provided [RCV000758729]|not specified [RCV003493442] Chr5:112840360 [GRCh38]
Chr5:112176057 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4875del (p.Gln1625fs) deletion Familial adenomatous polyposis 1 [RCV003335100]|Familial multiple polyposis syndrome [RCV002222394]|Hereditary cancer-predisposing syndrome [RCV002336249]|not provided [RCV000115097] Chr5:112840468 [GRCh38]
Chr5:112176165 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4900C>G (p.Pro1634Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534338]|Hereditary cancer-predisposing syndrome [RCV000583465]|not provided [RCV000115098] Chr5:112840494 [GRCh38]
Chr5:112176191 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys) single nucleotide variant APC-related condition [RCV003952545]|Carcinoma of colon [RCV001355446]|Familial adenomatous polyposis 1 [RCV000410427]|Hereditary cancer [RCV003492449]|Hereditary cancer-predisposing syndrome [RCV000219975]|not provided [RCV000758730] Chr5:112840611 [GRCh38]
Chr5:112176308 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) single nucleotide variant Carcinoma of colon [RCV001353642]|Colorectal cancer [RCV000735965]|Familial adenomatous polyposis 1 [RCV003323290]|Familial multiple polyposis syndrome [RCV000210376]|Hereditary cancer-predisposing syndrome [RCV000115100]|not provided [RCV000587987]|not specified [RCV000120016] Chr5:112840620 [GRCh38]
Chr5:112176317 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.5138T>C (p.Leu1713Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708970]|Familial adenomatous polyposis 1 [RCV003534339]|Hereditary cancer-predisposing syndrome [RCV000213768]|not provided [RCV000115101] Chr5:112840732 [GRCh38]
Chr5:112176429 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5302A>G (p.Lys1768Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000411965]|Familial adenomatous polyposis 1 [RCV003315630]|Familial adenomatous polyposis 1 [RCV003743564]|Hereditary cancer-predisposing syndrome [RCV000115102]|not provided [RCV000766438] Chr5:112840896 [GRCh38]
Chr5:112176593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+5G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003337233]|Hereditary cancer-predisposing syndrome [RCV002345412]|not provided [RCV000115103] Chr5:112775742 [GRCh38]
Chr5:112111439 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) single nucleotide variant Diffuse midline glioma, H3 K27-altered [RCV003315229]|Familial adenomatous polyposis 1 [RCV000148372]|Familial adenomatous polyposis 1 [RCV003650372]|Familial multiple polyposis syndrome [RCV000202997]|Hereditary cancer-predisposing syndrome [RCV000572635]|not provided [RCV000679068]|not specified [RCV000115104] Chr5:112841122 [GRCh38]
Chr5:112176819 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204622]|Familial adenomatous polyposis 1 [RCV003534340]|Hereditary cancer-predisposing syndrome [RCV000575966]|not provided [RCV000759434]|not specified [RCV000115105] Chr5:112841229 [GRCh38]
Chr5:112176926 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5758C>G (p.Arg1920Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228239]|Familial adenomatous polyposis 1 [RCV003474709]|Hereditary cancer-predisposing syndrome [RCV000562980]|Ovarian cancer [RCV003153365]|not provided [RCV000115106] Chr5:112841352 [GRCh38]
Chr5:112177049 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.5879_5880delinsTA (p.Pro1960Leu) indel Familial adenomatous polyposis 1 [RCV000232068]|Familial adenomatous polyposis 1 [RCV003534341]|Hereditary cancer-predisposing syndrome [RCV000491906]|not provided [RCV000115107]|not specified [RCV001255490] Chr5:112841473..112841474 [GRCh38]
Chr5:112177170..112177171 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5987A>T (p.Gln1996Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534342]|Hereditary cancer-predisposing syndrome [RCV000774671]|not provided [RCV000115108]|not specified [RCV001824607] Chr5:112841581 [GRCh38]
Chr5:112177278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6383del (p.Ala2128fs) deletion Familial adenomatous polyposis 1 [RCV003335102]|not provided [RCV000115110] Chr5:112841977 [GRCh38]
Chr5:112177674 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.646C>T (p.Arg216Ter) single nucleotide variant Desmoid disease, hereditary [RCV000763536]|Familial adenomatous polyposis 1 [RCV002228241]|Familial adenomatous polyposis 1 [RCV003460798]|Familial multiple polyposis syndrome [RCV002281931]|Hereditary cancer-predisposing syndrome [RCV000223521]|not provided [RCV000115111] Chr5:112792446 [GRCh38]
Chr5:112128143 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) single nucleotide variant APC-related condition [RCV003398710]|Familial adenomatous polyposis 1 [RCV000122792]|Familial adenomatous polyposis 1 [RCV003743565]|Hereditary cancer-predisposing syndrome [RCV000115112]|not provided [RCV000587692]|not specified [RCV000235096] Chr5:112842067 [GRCh38]
Chr5:112177764 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6691A>T (p.Ile2231Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534343]|Hereditary cancer-predisposing syndrome [RCV000573892]|not provided [RCV000115113] Chr5:112842285 [GRCh38]
Chr5:112177982 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122796]|Familial adenomatous polyposis 1 [RCV002228340]|Familial adenomatous polyposis 1 [RCV003743566]|Familial colorectal cancer [RCV000501432]|Hereditary cancer [RCV003492450]|Hereditary cancer-predisposing syndrome [RCV000115116]|not provided [RCV003477493]|not specified [RCV000120028] Chr5:112842451 [GRCh38]
Chr5:112178148 [GRCh37]
Chr5:5q22.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000038.6(APC):c.688C>T (p.Arg230Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228341]|Familial adenomatous polyposis 1 [RCV003474710]|Hereditary cancer-predisposing syndrome [RCV000565988]|not provided [RCV000758738]|not specified [RCV000115117] Chr5:112792488 [GRCh38]
Chr5:112128185 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7088A>G (p.Lys2363Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534344]|Hereditary cancer-predisposing syndrome [RCV001026018]|not provided [RCV000115119] Chr5:112842682 [GRCh38]
Chr5:112178379 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) single nucleotide variant Carcinoma of colon [RCV001353987]|Colorectal cancer [RCV000735966]|Familial adenomatous polyposis 1 [RCV000148360]|Familial adenomatous polyposis 1 [RCV003650373]|Hereditary cancer-predisposing syndrome [RCV000115120]|not provided [RCV000590816]|not specified [RCV000120031] Chr5:112842993 [GRCh38]
Chr5:112178690 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987583]|Familial adenomatous polyposis 1 [RCV003650374]|Hereditary cancer-predisposing syndrome [RCV000115121]|not provided [RCV000589307]|not specified [RCV000200965] Chr5:112843108 [GRCh38]
Chr5:112178805 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409766]|Familial adenomatous polyposis 1 [RCV003315631]|Hereditary cancer-predisposing syndrome [RCV000115122]|not provided [RCV000211934]|not specified [RCV001201308] Chr5:112843164 [GRCh38]
Chr5:112178861 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7808A>G (p.Glu2603Gly) single nucleotide variant Desmoid disease, hereditary [RCV002498493]|Familial adenomatous polyposis 1 [RCV000663283]|Familial adenomatous polyposis 1 [RCV003315632]|Hereditary cancer-predisposing syndrome [RCV000568789]|not provided [RCV000115123] Chr5:112843402 [GRCh38]
Chr5:112179099 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) single nucleotide variant Carcinoma of colon [RCV001353775]|Familial adenomatous polyposis 1 [RCV000122806]|Familial adenomatous polyposis 1 [RCV003743567]|Hereditary cancer-predisposing syndrome [RCV000115125]|not provided [RCV003326350]|not specified [RCV000200966] Chr5:112843662 [GRCh38]
Chr5:112179359 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.8104G>A (p.Ala2702Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743568]|Hereditary cancer-predisposing syndrome [RCV000115126]|not provided [RCV000679088] Chr5:112843698 [GRCh38]
Chr5:112179395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8233C>A (p.Pro2745Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514580]|Familial adenomatous polyposis 1 [RCV003534345]|Hereditary cancer-predisposing syndrome [RCV000772716]|not provided [RCV000590739] Chr5:112843827 [GRCh38]
Chr5:112179524 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) single nucleotide variant APC-related condition [RCV003952546]|Familial adenomatous polyposis 1 [RCV000197863]|Familial adenomatous polyposis 1 [RCV003534346]|Hereditary cancer-predisposing syndrome [RCV000115128]|not provided [RCV000590250]|not specified [RCV000722129] Chr5:112843855 [GRCh38]
Chr5:112179552 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8498G>A (p.Arg2833His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534347]|Hereditary cancer-predisposing syndrome [RCV000582503]|not provided [RCV000115129] Chr5:112844092 [GRCh38]
Chr5:112179789 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410035]|Familial multiple polyposis syndrome [RCV000238598]|Hereditary cancer-predisposing syndrome [RCV000123676]|not provided [RCV003103728]|not specified [RCV000120009] Chr5:112707795 [GRCh38]
Chr5:112043492 [GRCh37]
Chr5:5q22.2		 benign|not provided
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000542057]|Familial adenomatous polyposis 1 [RCV003743571]|not provided [RCV001705881]|not specified [RCV000120010] Chr5:112707836 [GRCh38]
Chr5:112043533 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.2123A>G (p.Lys708Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003460843]|Hereditary cancer-predisposing syndrome [RCV000569383]|not specified [RCV000120012] Chr5:112837717 [GRCh38]
Chr5:112173414 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000199645]|Familial adenomatous polyposis 1 [RCV003315713]|Familial adenomatous polyposis 1 [RCV003743572]|Hereditary cancer-predisposing syndrome [RCV000131570]|not provided [RCV000587732]|not specified [RCV000120014] Chr5:112839244 [GRCh38]
Chr5:112174941 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.4237A>G (p.Met1413Val) single nucleotide variant APC-related condition [RCV003915187]|Colorectal adenoma [RCV000148358]|Familial adenomatous polyposis 1 [RCV000122777]|Familial adenomatous polyposis 1 [RCV003764834]|Hereditary cancer-predisposing syndrome [RCV000131786]|not provided [RCV000589855]|not specified [RCV000120015] Chr5:112839831 [GRCh38]
Chr5:112175528 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000038.6(APC):c.5743A>G (p.Lys1915Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000475761]|Familial adenomatous polyposis 1 [RCV002228369]|Hereditary cancer-predisposing syndrome [RCV002345425]|not specified [RCV000120017] Chr5:112841337 [GRCh38]
Chr5:112177034 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.5968A>T (p.Thr1990Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515812]|Hereditary cancer-predisposing syndrome [RCV000579860]|not specified [RCV000120018] Chr5:112841562 [GRCh38]
Chr5:112177259 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.7543A>G (p.Ile2515Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000167973]|Familial adenomatous polyposis 1 [RCV003315714]|Hereditary cancer-predisposing syndrome [RCV000572762]|not provided [RCV001527676]|not specified [RCV000120019] Chr5:112843137 [GRCh38]
Chr5:112178834 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.7621A>G (p.Ile2541Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650377]|Hereditary cancer-predisposing syndrome [RCV000565915]|not provided [RCV000589511]|not specified [RCV000120020] Chr5:112843215 [GRCh38]
Chr5:112178912 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409341]|Familial adenomatous polyposis 1 [RCV003315715]|Hereditary cancer-predisposing syndrome [RCV000222148]|not provided [RCV000767111]|not specified [RCV000120021] Chr5:112843867 [GRCh38]
Chr5:112179564 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.8467A>C (p.Thr2823Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534349]|Hereditary cancer-predisposing syndrome [RCV000579945]|not specified [RCV000120022] Chr5:112844061 [GRCh38]
Chr5:112179758 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) single nucleotide variant APC-Associated Polyposis Disorders [RCV000290687]|Carcinoma of colon [RCV001356185]|Familial adenomatous polyposis 1 [RCV000200489]|Hereditary cancer-predisposing syndrome [RCV000492033]|not provided [RCV000590530]|not specified [RCV000120023] Chr5:112838180 [GRCh38]
Chr5:112173877 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance|not provided
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) single nucleotide variant Carcinoma of colon [RCV000677754]|Desmoid disease, hereditary [RCV002492414]|Familial adenomatous polyposis 1 [RCV000196848]|Familial adenomatous polyposis 1 [RCV003743573]|Familial multiple polyposis syndrome [RCV000239305]|Hereditary cancer-predisposing syndrome [RCV000129096]|not provided [RCV000590345]|not specified [RCV000120025] Chr5:112839105 [GRCh38]
Chr5:112174802 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV000198586]|Familial adenomatous polyposis 1 [RCV003534350]|Hereditary cancer-predisposing syndrome [RCV000129039]|not provided [RCV000657042]|not specified [RCV000120026] Chr5:112839469 [GRCh38]
Chr5:112175166 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.6754C>G (p.Pro2252Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764835]|not specified [RCV000120027] Chr5:112842348 [GRCh38]
Chr5:112178045 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance|not provided
NM_000038.6(APC):c.6958C>T (p.Pro2320Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515813]|Hereditary cancer-predisposing syndrome [RCV000568801]|not specified [RCV000120029] Chr5:112842552 [GRCh38]
Chr5:112178249 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) single nucleotide variant APC-Associated Polyposis Disorders [RCV001153055]|Familial adenomatous polyposis 1 [RCV003323291]|Hereditary cancer-predisposing syndrome [RCV000131590]|not provided [RCV000587624]|not specified [RCV000120032] Chr5:112843084 [GRCh38]
Chr5:112178781 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000038.6(APC):c.7832C>T (p.Thr2611Ile) single nucleotide variant Colon adenocarcinoma [RCV000677760]|Familial adenomatous polyposis 1 [RCV000230402]|Familial adenomatous polyposis 1 [RCV003315716]|Hereditary cancer-predisposing syndrome [RCV000774673]|not provided [RCV000586315]|not specified [RCV000120033] Chr5:112843426 [GRCh38]
Chr5:112179123 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.1959G>A (p.Arg653=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000340009]|Carcinoma of colon [RCV001353424]|Familial adenomatous polyposis 1 [RCV000987561]|Familial adenomatous polyposis 1 [RCV003315717]|Familial multiple polyposis syndrome [RCV000239214]|Hereditary cancer-predisposing syndrome [RCV000128958]|not provided [RCV000586895]|not specified [RCV000120034] Chr5:112837553 [GRCh38]
Chr5:112173250 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534351]|Hereditary cancer-predisposing syndrome [RCV000568678]|not provided [RCV001775597]|not specified [RCV000120035] Chr5:112838601 [GRCh38]
Chr5:112174298 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.3052G>A (p.Asp1018Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743574]|not specified [RCV000120036] Chr5:112838646 [GRCh38]
Chr5:112174343 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.3197G>A (p.Arg1066Lys) single nucleotide variant not specified [RCV000120037] Chr5:112838791 [GRCh38]
Chr5:112174488 [GRCh37]
Chr5:5q22.2		 not provided
NM_000038.6(APC):c.3325G>T (p.Gly1109Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534352]|Hereditary cancer-predisposing syndrome [RCV002453438]|not provided [RCV000767181]|not specified [RCV000120038] Chr5:112838919 [GRCh38]
Chr5:112174616 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.3644G>A (p.Ser1215Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534353]|Hereditary cancer-predisposing syndrome [RCV000580032]|not provided [RCV000767182]|not specified [RCV000120039] Chr5:112839238 [GRCh38]
Chr5:112174935 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) single nucleotide variant APC-Associated Polyposis Disorders [RCV000321870]|Carcinoma of colon [RCV001358624]|Colorectal adenoma [RCV000148366]|Familial adenomatous polyposis 1 [RCV000987573]|Familial adenomatous polyposis 1 [RCV003650378]|Hereditary cancer-predisposing syndrome [RCV000129100]|not provided [RCV000759431]|not specified [RCV000120040] Chr5:112840014 [GRCh38]
Chr5:112175711 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000206279]|Familial adenomatous polyposis 1 [RCV003315718]|Hereditary cancer-predisposing syndrome [RCV000164191]|not provided [RCV001704029]|not specified [RCV000120041] Chr5:112840513 [GRCh38]
Chr5:112176210 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.5108G>C (p.Gly1703Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000663189]|Familial adenomatous polyposis 1 [RCV003534354]|Hereditary cancer-predisposing syndrome [RCV000562439]|not provided [RCV001582590]|not specified [RCV000120042] Chr5:112840702 [GRCh38]
Chr5:112176399 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000546435]|Familial adenomatous polyposis 1 [RCV003315719]|Hereditary cancer-predisposing syndrome [RCV000574195]|not provided [RCV001356898]|not specified [RCV000120043] Chr5:112842501 [GRCh38]
Chr5:112178198 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.7589G>A (p.Arg2530Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650379]|Hereditary cancer-predisposing syndrome [RCV000222733]|not specified [RCV000120044] Chr5:112843183 [GRCh38]
Chr5:112178880 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.8146G>C (p.Val2716Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515816]|Hereditary cancer-predisposing syndrome [RCV000166038]|not provided [RCV000767040]|not specified [RCV000120045] Chr5:112843740 [GRCh38]
Chr5:112179437 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.8182G>A (p.Val2728Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228392]|Familial adenomatous polyposis 1 [RCV003467066]|Hereditary cancer-predisposing syndrome [RCV000771522]|not provided [RCV000679090]|not specified [RCV000120046] Chr5:112843776 [GRCh38]
Chr5:112179473 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) single nucleotide variant APC-related condition [RCV003952585]|Familial adenomatous polyposis 1 [RCV000199434]|Hepatocellular carcinoma [RCV000677786]|Hereditary cancer-predisposing syndrome [RCV000163521]|Intrahepatic cholangiocarcinoma [RCV000677787]|Neoplasm of the liver [RCV000677785]|not provided [RCV001704030]|not specified [RCV000120047] Chr5:112843926 [GRCh38]
Chr5:112179623 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) single nucleotide variant APC-related condition [RCV003905137]|Familial adenomatous polyposis 1 [RCV000122774]|Familial adenomatous polyposis 1 [RCV003650380]|Hereditary cancer-predisposing syndrome [RCV000568279]|not provided [RCV001704031]|not specified [RCV000120048] Chr5:112839226 [GRCh38]
Chr5:112174923 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.385G>C (p.Glu129Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000196705]|Familial adenomatous polyposis 1 [RCV003315720]|Hereditary cancer-predisposing syndrome [RCV000216893]|not provided [RCV000589545]|not specified [RCV000120050] Chr5:112767353 [GRCh38]
Chr5:112103050 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.3165A>T (p.Ile1055=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000307559]|Carcinoma of colon [RCV001353666]|Familial adenomatous polyposis 1 [RCV003315712]|Familial multiple polyposis syndrome [RCV000202973]|Hereditary cancer-predisposing syndrome [RCV000129160]|not provided [RCV001529443]|not specified [RCV000211906] Chr5:112838759 [GRCh38]
Chr5:112174456 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.1203G>T (p.Arg401Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122755]|Hereditary cancer-predisposing syndrome [RCV002345429] Chr5:112819235 [GRCh38]
Chr5:112154932 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.120G>A (p.Glu40=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000340295]|Familial adenomatous polyposis 1 [RCV001082954]|Familial adenomatous polyposis 1 [RCV003315796]|Familial adenomatous polyposis 1 [RCV003743575]|Hereditary cancer-predisposing syndrome [RCV000123674]|not provided [RCV000589882]|not specified [RCV000201994] Chr5:112755010 [GRCh38]
Chr5:112090707 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.1488A>T (p.Thr496=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000318991]|APC-related condition [RCV003952620]|Carcinoma of colon [RCV001356780]|Familial adenomatous polyposis 1 [RCV002228413]|Hereditary cancer-predisposing syndrome [RCV000164173]|not provided [RCV000587584]|not specified [RCV000508123] Chr5:112827187 [GRCh38]
Chr5:112162884 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.1554G>A (p.Thr518=) single nucleotide variant APC-related condition [RCV003952621]|Carcinoma of colon [RCV001353571]|Familial adenomatous polyposis 1 [RCV003315797]|Hereditary cancer-predisposing syndrome [RCV000162691]|not provided [RCV000586072]|not specified [RCV000435025] Chr5:112827934 [GRCh38]
Chr5:112163631 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1863T>C (p.Thr621=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650381]|Hereditary cancer-predisposing syndrome [RCV000568132]|not provided [RCV000122760]|not specified [RCV002267861] Chr5:112835070 [GRCh38]
Chr5:112170767 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2262T>G (p.Val754=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122761]|Familial adenomatous polyposis 1 [RCV002228416]|Hereditary cancer-predisposing syndrome [RCV000163307]|not provided [RCV000758722]|not specified [RCV000152789] Chr5:112837856 [GRCh38]
Chr5:112173553 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.2347G>T (p.Ala783Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122762] Chr5:112837941 [GRCh38]
Chr5:112173638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2408C>T (p.Thr803Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517607]|Familial adenomatous polyposis 1 [RCV003743576]|Hereditary cancer-predisposing syndrome [RCV000561874]|not provided [RCV001770099] Chr5:112838002 [GRCh38]
Chr5:112173699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV000348086]|Familial adenomatous polyposis 1 [RCV000122764]|Familial adenomatous polyposis 1 [RCV003743577]|Familial multiple polyposis syndrome [RCV000238728]|Hereditary cancer [RCV003492529]|Hereditary cancer-predisposing syndrome [RCV000131163]|not provided [RCV000587302]|not specified [RCV002228418] Chr5:112838187 [GRCh38]
Chr5:112173884 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.259C>T (p.Leu87=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003315798]|Hereditary cancer-predisposing syndrome [RCV000163523]|not provided [RCV000122765]|not specified [RCV003493448] Chr5:112767227 [GRCh38]
Chr5:112102924 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.263G>A (p.Arg88Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122766]|Familial adenomatous polyposis 1 [RCV002228421]|Hereditary cancer-predisposing syndrome [RCV000566722]|not provided [RCV000413883] Chr5:112767231 [GRCh38]
Chr5:112102928 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2640C>T (p.Ile880=) single nucleotide variant APC-related condition [RCV003905171]|Familial adenomatous polyposis 1 [RCV003534355]|Hereditary cancer-predisposing syndrome [RCV000491406]|not provided [RCV000589008]|not specified [RCV000432457] Chr5:112838234 [GRCh38]
Chr5:112173931 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.2658G>T (p.Gln886His) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157044]|Familial adenomatous polyposis 1 [RCV000122768]|Familial adenomatous polyposis 1 [RCV003315799]|Familial multiple polyposis syndrome [RCV000664308]|Gastric adenocarcinoma and proximal polyposis of the stomach [RCV003325185]|Hereditary cancer-predisposing syndrome [RCV000574171]|not specified [RCV000485846] Chr5:112838252 [GRCh38]
Chr5:112173949 [GRCh37]
Chr5:5q22.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.295C>T (p.Arg99Trp) single nucleotide variant APC-related condition [RCV003905172]|Carcinoma of colon [RCV001353757]|Colorectal cancer, susceptibility to [RCV000210128]|Familial adenomatous polyposis 1 [RCV000122769]|Familial adenomatous polyposis 1 [RCV003315800]|Familial adenomatous polyposis 1 [RCV003743578]|Hereditary cancer-predisposing syndrome [RCV000129141]|not provided [RCV000589216]|not specified [RCV000200967] Chr5:112767263 [GRCh38]
Chr5:112102960 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.3303A>G (p.Pro1101=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764849]|Hereditary cancer-predisposing syndrome [RCV002321605] Chr5:112838897 [GRCh38]
Chr5:112174594 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3554C>T (p.Thr1185Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764850]|Hereditary cancer-predisposing syndrome [RCV001804849] Chr5:112839148 [GRCh38]
Chr5:112174845 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3628C>T (p.His1210Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515908]|Familial adenomatous polyposis 1 [RCV003534356]|Hereditary cancer-predisposing syndrome [RCV000129238]|not provided [RCV001357972] Chr5:112839222 [GRCh38]
Chr5:112174919 [GRCh37]
Chr5:5q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3901A>G (p.Thr1301Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122776]|Hereditary cancer-predisposing syndrome [RCV003584554] Chr5:112839495 [GRCh38]
Chr5:112175192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4212C>A (p.Ser1404=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764851]|Hereditary cancer-predisposing syndrome [RCV000162838]|not provided [RCV000589752]|not specified [RCV000581831] Chr5:112839806 [GRCh38]
Chr5:112175503 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122779]|Familial adenomatous polyposis 1 [RCV003743579]|Hereditary cancer-predisposing syndrome [RCV000575531]|not provided [RCV000235379]|not specified [RCV001193569] Chr5:112839843 [GRCh38]
Chr5:112175540 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122780]|Hereditary cancer-predisposing syndrome [RCV000567758]|not provided [RCV001284708] Chr5:112839927 [GRCh38]
Chr5:112175624 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4525C>T (p.Leu1509=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764852]|Hereditary cancer-predisposing syndrome [RCV001022639]|not provided [RCV001284712] Chr5:112840119 [GRCh38]
Chr5:112175816 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4905G>A (p.Gly1635=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000296218]|Familial adenomatous polyposis 1 [RCV000122782]|Familial adenomatous polyposis 1 [RCV003743580]|Hereditary cancer-predisposing syndrome [RCV000123669]|not provided [RCV000589457]|not specified [RCV000211918] Chr5:112840499 [GRCh38]
Chr5:112176196 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) single nucleotide variant Carcinoma of colon [RCV001353632]|Familial adenomatous polyposis 1 [RCV000122783]|Familial adenomatous polyposis 1 [RCV003534357]|Hereditary cancer-predisposing syndrome [RCV000128987]|not provided [RCV000586353]|not specified [RCV000236885] Chr5:112840603 [GRCh38]
Chr5:112176300 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157159]|APC-related condition [RCV003389701]|Familial adenomatous polyposis 1 [RCV000122784]|Familial adenomatous polyposis 1 [RCV003534358]|Hereditary cancer-predisposing syndrome [RCV000129088]|not provided [RCV000587086]|not specified [RCV000479916] Chr5:112840734 [GRCh38]
Chr5:112176431 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5177A>G (p.Glu1726Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122785]|Familial adenomatous polyposis 1 [RCV003315801]|Hereditary cancer-predisposing syndrome [RCV000575009]|Malignant tumor of breast [RCV001354105] Chr5:112840771 [GRCh38]
Chr5:112176468 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5759G>T (p.Arg1920Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122786]|Hereditary cancer-predisposing syndrome [RCV000569249] Chr5:112841353 [GRCh38]
Chr5:112177050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155575]|APC-related condition [RCV003398739]|Colorectal cancer, susceptibility to [RCV000210078]|Desmoid disease, hereditary [RCV000764567]|Familial adenomatous polyposis 1 [RCV000122787]|Familial adenomatous polyposis 1 [RCV003534359]|Familial multiple polyposis syndrome [RCV000210900]|Hereditary cancer-predisposing syndrome [RCV000159562]|not provided [RCV000656747]|not specified [RCV000211923] Chr5:112841395 [GRCh38]
Chr5:112177092 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.597G>A (p.Ala199=) single nucleotide variant APC-related condition [RCV003925217]|Familial adenomatous polyposis 1 [RCV000122788]|Familial adenomatous polyposis 1 [RCV003650382]|Hereditary cancer-predisposing syndrome [RCV000571364]|not specified [RCV000443147] Chr5:112780855 [GRCh38]
Chr5:112116552 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.6135C>T (p.Ser2045=) single nucleotide variant Carcinoma of colon [RCV001353604]|Familial adenomatous polyposis 1 [RCV003650383]|Hereditary cancer-predisposing syndrome [RCV000574161]|not provided [RCV000679075]|not specified [RCV000435748] Chr5:112841729 [GRCh38]
Chr5:112177426 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.5(APC):c.6351_6352insGCT (p.Ala2122_Cys2123insAla) insertion Adenomatous polyposis coli [RCV000122791]|Familial adenomatous polyposis 1 [RCV000122791] Chr5:112841945..112841946 [GRCh38]
Chr5:112177642..112177643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6609T>C (p.Val2203=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000399599]|Familial adenomatous polyposis 1 [RCV000987579]|Familial adenomatous polyposis 1 [RCV003650384]|Hereditary cancer-predisposing syndrome [RCV000159523]|Malignant tumor of breast [RCV001356436]|not provided [RCV000589578]|not specified [RCV000211926] Chr5:112842203 [GRCh38]
Chr5:112177900 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.6669A>G (p.Ser2223=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122794]|Familial adenomatous polyposis 1 [RCV002228433]|Hereditary cancer-predisposing syndrome [RCV000159524]|not provided [RCV003477517]|not specified [RCV000211927] Chr5:112842263 [GRCh38]
Chr5:112177960 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.6750C>T (p.Gly2250=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534360]|Hereditary cancer-predisposing syndrome [RCV000570370]|not provided [RCV000679081]|not specified [RCV000424815] Chr5:112842344 [GRCh38]
Chr5:112178041 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151806]|APC-related condition [RCV003905173]|Colorectal adenoma [RCV000148359]|Familial adenomatous polyposis 1 [RCV000987581]|Familial adenomatous polyposis 1 [RCV003743581]|Hereditary cancer-predisposing syndrome [RCV000131625]|Ovarian cancer [RCV003153405]|not provided [RCV001719892]|not specified [RCV000211933] Chr5:112842579 [GRCh38]
Chr5:112178276 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.7125A>G (p.Gln2375=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534361]|Hereditary cancer-predisposing syndrome [RCV000162655]|not provided [RCV001640110] Chr5:112842719 [GRCh38]
Chr5:112178416 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.7536T>C (p.Ser2512=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764853]|Hereditary cancer-predisposing syndrome [RCV000562932]|not specified [RCV000507547] Chr5:112843130 [GRCh38]
Chr5:112178827 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122802]|Familial adenomatous polyposis 1 [RCV003534362]|Hereditary cancer-predisposing syndrome [RCV000575243]|not provided [RCV000766452]|not specified [RCV000235882] Chr5:112843219 [GRCh38]
Chr5:112178916 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.777G>T (p.Arg259=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151508]|Carcinoma of colon [RCV001353450]|Familial adenomatous polyposis 1 [RCV003743582]|Hereditary cancer-predisposing syndrome [RCV000123678]|not provided [RCV000759445]|not specified [RCV000211894] Chr5:112801326 [GRCh38]
Chr5:112137023 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.8042C>T (p.Pro2681Leu) single nucleotide variant APC-related condition [RCV003891648]|Familial adenomatous polyposis 1 [RCV003534363]|Hereditary cancer-predisposing syndrome [RCV000132395]|not provided [RCV000679087]|not specified [RCV000235943] Chr5:112843636 [GRCh38]
Chr5:112179333 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8144C>T (p.Thr2715Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122807]|not provided [RCV000484506] Chr5:112843738 [GRCh38]
Chr5:112179435 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8162G>A (p.Arg2721His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003474735]|Hereditary cancer-predisposing syndrome [RCV000218426]|not provided [RCV000479454] Chr5:112843756 [GRCh38]
Chr5:112179453 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157355]|Colorectal adenoma [RCV000148374]|Familial adenomatous polyposis 1 [RCV000122809]|Familial adenomatous polyposis 1 [RCV003534364]|Hereditary cancer-predisposing syndrome [RCV000493019]|Ovarian cancer [RCV003153406]|not provided [RCV000587542]|not specified [RCV001549270] Chr5:112843860 [GRCh38]
Chr5:112179557 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.836G>T (p.Gly279Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122810]|Familial adenomatous polyposis 1 [RCV002228440]|Hereditary cancer-predisposing syndrome [RCV000570664]|not provided [RCV003477518] Chr5:112815496 [GRCh38]
Chr5:112151193 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8416C>G (p.Pro2806Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000122811]|Familial adenomatous polyposis 1 [RCV003315802]|Hereditary cancer-predisposing syndrome [RCV000564540]|not provided [RCV000587667] Chr5:112844010 [GRCh38]
Chr5:112179707 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.8477G>A (p.Ser2826Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228442]|Familial adenomatous polyposis 1 [RCV003467082]|Hereditary cancer-predisposing syndrome [RCV000568898] Chr5:112844071 [GRCh38]
Chr5:112179768 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8524T>G (p.Ser2842Ala) single nucleotide variant APC-related condition [RCV003415925]|Familial adenomatous polyposis 1 [RCV000122813]|Hereditary cancer-predisposing syndrome [RCV001017958] Chr5:112844118 [GRCh38]
Chr5:112179815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.883A>G (p.Ser295Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650385]|Hereditary cancer-predisposing syndrome [RCV000213708]|Ovarian cancer [RCV003153407]|not provided [RCV001778740]|not specified [RCV001192830] Chr5:112815543 [GRCh38]
Chr5:112151240 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1419G>A (p.Gln473=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000198482]|Familial adenomatous polyposis 1 [RCV003650386]|Hereditary cancer-predisposing syndrome [RCV000123659]|not provided [RCV000589186]|not specified [RCV000211898] Chr5:112827118 [GRCh38]
Chr5:112162815 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000038.6(APC):c.1548+17T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000411141]|Hereditary cancer-predisposing syndrome [RCV000579698]|not provided [RCV001811989]|not specified [RCV000123660] Chr5:112827264 [GRCh38]
Chr5:112162961 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.2322C>T (p.Asp774=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000378186]|Carcinoma of colon [RCV001353855]|Familial adenomatous polyposis 1 [RCV000197095]|Familial adenomatous polyposis 1 [RCV003315829]|Hereditary cancer-predisposing syndrome [RCV000123662]|not provided [RCV001528737]|not specified [RCV000211902] Chr5:112837916 [GRCh38]
Chr5:112173613 [GRCh37]
Chr5:5q22.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000038.6(APC):c.2805C>T (p.Tyr935=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157045]|Carcinoma of colon [RCV001354034]|Familial adenomatous polyposis 1 [RCV000987567]|Familial multiple polyposis syndrome [RCV000202773]|Hereditary cancer-predisposing syndrome [RCV000123663]|not provided [RCV000679052]|not specified [RCV000211904] Chr5:112838399 [GRCh38]
Chr5:112174096 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000038.6(APC):c.3264G>A (p.Lys1088=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228263]|Hereditary cancer-predisposing syndrome [RCV000129142]|not provided [RCV000586811]|not specified [RCV000211908] Chr5:112838858 [GRCh38]
Chr5:112174555 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.5250C>G (p.Val1750=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000393053]|Familial adenomatous polyposis 1 [RCV002512520]|Familial adenomatous polyposis 1 [RCV003534365]|Hereditary cancer-predisposing syndrome [RCV000131024]|not provided [RCV000755819]|not specified [RCV000211920] Chr5:112840844 [GRCh38]
Chr5:112176541 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.6921G>A (p.Ser2307=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000398735]|Carcinoma of colon [RCV001353599]|Familial adenomatous polyposis 1 [RCV003534366]|Hereditary cancer-predisposing syndrome [RCV000128942]|not provided [RCV000586387]|not specified [RCV000211932] Chr5:112842515 [GRCh38]
Chr5:112178212 [GRCh37]
Chr5:5q22.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.-19+512G>A single nucleotide variant APC-related condition [RCV003905188]|not provided [RCV003736582]|not specified [RCV000123673] Chr5:112738437 [GRCh38]
Chr5:112074134 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4893T>C (p.Ser1631=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000388181]|Carcinoma of colon [RCV001357649]|Familial adenomatous polyposis 1 [RCV003315699]|Hereditary cancer-predisposing syndrome [RCV000123668]|not provided [RCV000586060]|not specified [RCV000211917] Chr5:112840487 [GRCh38]
Chr5:112176184 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000038.6(APC):c.4326T>A (p.Pro1442=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000361337]|Carcinoma of colon [RCV001353752]|Desmoid disease, hereditary [RCV002498543]|Familial adenomatous polyposis 1 [RCV002514590]|Familial adenomatous polyposis 1 [RCV003743569]|Hereditary cancer-predisposing syndrome [RCV000131961]|not provided [RCV000512763]|not specified [RCV000254138] Chr5:112839920 [GRCh38]
Chr5:112175617 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.8319T>G (p.Pro2773=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764826]|not specified [RCV000439565] Chr5:112843913 [GRCh38]
Chr5:112179610 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3663T>C (p.Pro1221=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764827] Chr5:112839257 [GRCh38]
Chr5:112174954 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1441G>A (p.Val481Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV000119171]|Familial adenomatous polyposis 1 [RCV003650375]|Hereditary cancer-predisposing syndrome [RCV000164862]|not provided [RCV000585957]|not specified [RCV002469015] Chr5:112827140 [GRCh38]
Chr5:112162837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.689G>A (p.Arg230His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000119182]|Familial adenomatous polyposis 1 [RCV003650376]|Hereditary cancer-predisposing syndrome [RCV000579594]|not provided [RCV000589003] Chr5:112792489 [GRCh38]
Chr5:112128186 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6349C>A (p.Gln2117Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514592]|Familial adenomatous polyposis 1 [RCV003534348]|Hereditary cancer-predisposing syndrome [RCV000583428]|not provided [RCV000679079] Chr5:112841943 [GRCh38]
Chr5:112177640 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6525A>G (p.Thr2175=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000374754]|APC-related condition [RCV003915184]|Familial adenomatous polyposis 1 [RCV003743570]|Hereditary cancer-predisposing syndrome [RCV000159521]|not provided [RCV001310856]|not specified [RCV000254629] Chr5:112842119 [GRCh38]
Chr5:112177816 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7204A>T (p.Asn2402Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764828]|Hereditary cancer-predisposing syndrome [RCV002371952] Chr5:112842798 [GRCh38]
Chr5:112178495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) single nucleotide variant APC-Associated Polyposis Disorders [RCV000368182]|Carcinoma of colon [RCV001354303]|Familial adenomatous polyposis 1 [RCV000119206]|Familial adenomatous polyposis 1 [RCV003315710]|Hereditary cancer-predisposing syndrome [RCV000130570]|Neoplasm of the liver [RCV000677781]|not provided [RCV000588540]|not specified [RCV000235422] Chr5:112838968 [GRCh38]
Chr5:112174665 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.8038C>G (p.Pro2680Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764829]|Hereditary cancer-predisposing syndrome [RCV000575859]|not provided [RCV000588854] Chr5:112843632 [GRCh38]
Chr5:112179329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.5497_5502delAGAGTC (p.Val1834_Arg1835del) deletion AllHighlyPenetrant [RCV000120011]|not specified [RCV000120011] Chr5:112841091..112841096 [GRCh38]
Chr5:112176788..112176793 [GRCh37]
Chr5:5q22.2		 not provided
NM_000038.6(APC):c.3692_3693insA (p.His1232fs) insertion Desmoid disease, hereditary [RCV001292791] Chr5:112839286..112839287 [GRCh38]
Chr5:112174983..112174984 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5:c.1465_1466insSVA insertion Familial adenomatous polyposis 1 [RCV001293019]   pathogenic
NM_000038.6(APC):c.422+6T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003650769] Chr5:112767396 [GRCh38]
Chr5:112103093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5850G>C (p.Lys1950Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240558] Chr5:112841444 [GRCh38]
Chr5:112177141 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2563_2564del (p.Glu855fs) microsatellite Familial adenomatous polyposis 1 [RCV003534463]|Hereditary cancer-predisposing syndrome [RCV002426833]|not provided [RCV000174975] Chr5:112838151..112838152 [GRCh38]
Chr5:112173848..112173849 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) single nucleotide variant APC-Associated Polyposis Disorders [RCV001824661]|Familial adenomatous polyposis 1 [RCV000174977]|Familial multiple polyposis syndrome [RCV000659277]|Hereditary cancer-predisposing syndrome [RCV000494198]|Neoplasm of the large intestine [RCV000441954]|not provided [RCV000486553] Chr5:112839942 [GRCh38]
Chr5:112175639 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|not provided
Single allele duplication Familial adenomatous polyposis 1 [RCV000174979] Chr5:112175764..112175765 [GRCh37] pathogenic
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer) deletion Familial adenomatous polyposis 1 [RCV000576769]|Familial adenomatous polyposis 1 [RCV002232674]|Hereditary cancer-predisposing syndrome [RCV002413653]|not provided [RCV000657832] Chr5:112828934 [GRCh38]
Chr5:112164631 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.829G>T (p.Gly277Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242392] Chr5:112801378 [GRCh38]
Chr5:112137075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5230A>C (p.Lys1744Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770559] Chr5:112840824 [GRCh38]
Chr5:112176521 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4308T>G (p.Ser1436Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770993] Chr5:112839902 [GRCh38]
Chr5:112175599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) single nucleotide variant Colorectal adenoma [RCV000148361]|Colorectal cancer [RCV001199001]|Familial adenomatous polyposis 1 [RCV000458485]|Hereditary cancer-predisposing syndrome [RCV000215340]|not provided [RCV000483957] Chr5:112843372 [GRCh38]
Chr5:112179069 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2847G>T (p.Met949Ile) single nucleotide variant APC-related condition [RCV003917461]|Colorectal adenoma [RCV000148363]|Familial adenomatous polyposis 1 [RCV000168133]|Familial adenomatous polyposis 1 [RCV003534394]|Hereditary cancer-predisposing syndrome [RCV000567920]|not provided [RCV001704072]|not specified [RCV000159544] Chr5:112838441 [GRCh38]
Chr5:112174138 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-4C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652153] Chr5:112707714 [GRCh38]
Chr5:112043411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.520T>G (p.Leu174Val) single nucleotide variant not provided [RCV003221546] Chr5:112775726 [GRCh38]
Chr5:112111423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.423-?_531+?del (p.(?)) deletion not provided [RCV000201959]   pathogenic
NC_000005.10:g.112707417G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538670] Chr5:112707417 [GRCh38]
Chr5:112043114 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3580T>G (p.Ser1194Ala) single nucleotide variant not provided [RCV003221520] Chr5:112839174 [GRCh38]
Chr5:112174871 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4753A>G (p.Thr1585Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV001870683] Chr5:112840347 [GRCh38]
Chr5:112176044 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4459dup (p.Thr1487fs) duplication Familial adenomatous polyposis 1 [RCV001843601] Chr5:112840052..112840053 [GRCh38]
Chr5:112175749..112175750 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1084G>A (p.Gly362Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV001292669] Chr5:112819116 [GRCh38]
Chr5:112154813 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.280C>A (p.Arg94Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409081]|Familial adenomatous polyposis 1 [RCV003535694]|Hereditary cancer-predisposing syndrome [RCV001016652]|Ovarian cancer [RCV003153569]|not provided [RCV001775785] Chr5:112767248 [GRCh38]
Chr5:112102945 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.7402T>G (p.Ser2468Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410564]|Familial adenomatous polyposis 1 [RCV003535693]|Hereditary cancer-predisposing syndrome [RCV001026397] Chr5:112842996 [GRCh38]
Chr5:112178693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707372_112707373delinsTT indel Familial adenomatous polyposis 1 [RCV002547483] Chr5:112707372..112707373 [GRCh38]
Chr5:112043069..112043070 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+16T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000409080]|Familial adenomatous polyposis 1 [RCV003766140]|Hereditary cancer-predisposing syndrome [RCV000771224] Chr5:112819360 [GRCh38]
Chr5:112155057 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000144563]|Hereditary cancer-predisposing syndrome [RCV000563288]|not provided [RCV000202095] Chr5:112838880 [GRCh38]
Chr5:112174577 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2107del (p.Ala703fs) deletion Familial adenomatous polyposis 1 [RCV000144565]|not provided [RCV000759420] Chr5:112837697 [GRCh38]
Chr5:112173394 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4666del (p.Thr1556fs) deletion Familial adenomatous polyposis 1 [RCV000144566]|Familial adenomatous polyposis 1 [RCV003335129] Chr5:112840255 [GRCh38]
Chr5:112175952 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6748G>A (p.Gly2250Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000144568]|Familial adenomatous polyposis 1 [RCV003534392] Chr5:112842342 [GRCh38]
Chr5:112178039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3814del (p.Ser1272fs) deletion Familial adenomatous polyposis 1 [RCV000144569]|Familial adenomatous polyposis 1 [RCV003335130]|Hereditary cancer-predisposing syndrome [RCV002354330] Chr5:112839404 [GRCh38]
Chr5:112175101 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1685C>T (p.Thr562Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV000144570]|Familial adenomatous polyposis 1 [RCV003315924]|Hereditary cancer-predisposing syndrome [RCV000222854]|not provided [RCV000766534]|not specified [RCV000485323] Chr5:112828914 [GRCh38]
Chr5:112164611 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.622C>A (p.Gln208Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000144572] Chr5:112780880 [GRCh38]
Chr5:112116577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-2A>G single nucleotide variant Carcinoma of colon [RCV000500538]|Familial adenomatous polyposis 1 [RCV000144573]|Familial adenomatous polyposis 1 [RCV003650400]|Familial multiple polyposis syndrome [RCV002281962]|Hereditary cancer-predisposing syndrome [RCV001012984]|not provided [RCV003321518] Chr5:112834949 [GRCh38]
Chr5:112170646 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000144574]|Familial adenomatous polyposis 1 [RCV003534393]|Hereditary cancer [RCV003492634]|Hereditary cancer-predisposing syndrome [RCV000572226]|not provided [RCV000759443] Chr5:112843144 [GRCh38]
Chr5:112178841 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-32del deletion Familial adenomatous polyposis 1 [RCV003652138] Chr5:112707686 [GRCh38]
Chr5:112043383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3753_3754del (p.Ser1252fs) deletion Colorectal cancer [RCV001293811] Chr5:112839346..112839347 [GRCh38]
Chr5:112175043..112175044 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-148A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538716] Chr5:112707570 [GRCh38]
Chr5:112043267 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-1T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002242675] Chr5:112707717 [GRCh38]
Chr5:112043414 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-129G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002242400] Chr5:112707589 [GRCh38]
Chr5:112043286 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1 copy number loss See cases [RCV000133813] Chr5:108585264..116815075 [GRCh38]
Chr5:107920965..116150771 [GRCh37]
Chr5:107948864..116178670 [NCBI36]
Chr5:5q21.3-23.1		 pathogenic
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) single nucleotide variant APC-Associated Polyposis Disorders [RCV000283075]|Desmoid disease, hereditary [RCV000515282]|Familial adenomatous polyposis 1 [RCV000198030]|Familial adenomatous polyposis 1 [RCV003534376]|Hereditary cancer-predisposing syndrome [RCV000129949]|not provided [RCV000656753]|not specified [RCV002267871] Chr5:112843983 [GRCh38]
Chr5:112179680 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.220+2T>A single nucleotide variant Carcinoma of colon [RCV000503701]|Familial adenomatous polyposis 1 [RCV003337234]|Familial adenomatous polyposis 1 [RCV003388829]|Hereditary cancer-predisposing syndrome [RCV000130080]|not provided [RCV000202191] Chr5:112766412 [GRCh38]
Chr5:112102109 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4478C>T (p.Thr1493Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV000228695]|Familial adenomatous polyposis 1 [RCV003534377]|Hereditary cancer-predisposing syndrome [RCV000130087]|not provided [RCV000590777] Chr5:112840072 [GRCh38]
Chr5:112175769 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000195856]|Familial adenomatous polyposis 1 [RCV002228483]|Hereditary cancer-predisposing syndrome [RCV000130090]|not provided [RCV000485276]|not specified [RCV001797633] Chr5:112843452 [GRCh38]
Chr5:112179149 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5027G>C (p.Arg1676Thr) single nucleotide variant APC-related condition [RCV003925277]|Familial adenomatous polyposis 1 [RCV003534378]|Hereditary cancer-predisposing syndrome [RCV000130120]|not provided [RCV000589678]|not specified [RCV000722124] Chr5:112840621 [GRCh38]
Chr5:112176318 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del) deletion Familial adenomatous polyposis 1 [RCV000412451]|Familial adenomatous polyposis 1 [RCV003650392]|Hereditary cancer-predisposing syndrome [RCV000130157]|not provided [RCV000758734]|not specified [RCV000120011] Chr5:112841091..112841096 [GRCh38]
Chr5:112176788..112176793 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.4447C>T (p.Pro1483Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514727]|Hereditary cancer-predisposing syndrome [RCV000130203] Chr5:112840041 [GRCh38]
Chr5:112175738 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157265]|Desmoid disease, hereditary [RCV000765788]|Familial adenomatous polyposis 1 [RCV000409211]|Familial adenomatous polyposis 1 [RCV003650393]|Hereditary cancer-predisposing syndrome [RCV000130211]|not provided [RCV000484737]|not specified [RCV002222403] Chr5:112842233 [GRCh38]
Chr5:112177930 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4171A>G (p.Ser1391Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650394]|Hereditary cancer-predisposing syndrome [RCV000130215] Chr5:112839765 [GRCh38]
Chr5:112175462 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6606A>C (p.Lys2202Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743587]|Hereditary cancer-predisposing syndrome [RCV000130242] Chr5:112842200 [GRCh38]
Chr5:112177897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2680_2686dup (p.Ala896fs) duplication Familial adenomatous polyposis 1 [RCV003337235]|Hereditary cancer-predisposing syndrome [RCV000130251]|not provided [RCV000236965] Chr5:112838273..112838274 [GRCh38]
Chr5:112173970..112173971 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410458]|Familial adenomatous polyposis 1 [RCV003534379]|Hereditary cancer-predisposing syndrome [RCV000130294]|not provided [RCV000255155]|not specified [RCV001192912] Chr5:112842376 [GRCh38]
Chr5:112178073 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4735A>G (p.Ile1579Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534380]|Hereditary cancer-predisposing syndrome [RCV000130298] Chr5:112840329 [GRCh38]
Chr5:112176026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) single nucleotide variant APC-Associated Polyposis Disorders [RCV001154640]|Familial adenomatous polyposis 1 [RCV000198440]|Familial adenomatous polyposis 1 [RCV003315888]|Familial adenomatous polyposis 1 [RCV003743588]|Hereditary cancer [RCV003492599]|Hereditary cancer-predisposing syndrome [RCV000130302]|not provided [RCV000236652]|not specified [RCV003479014] Chr5:112839219 [GRCh38]
Chr5:112174916 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8276G>A (p.Arg2759His) single nucleotide variant APC-related condition [RCV003430706]|Desmoid disease, hereditary [RCV000765791]|Familial adenomatous polyposis 1 [RCV003764867]|Hereditary cancer-predisposing syndrome [RCV000130304]|not provided [RCV001549810]|not specified [RCV002469020] Chr5:112843870 [GRCh38]
Chr5:112179567 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.94A>G (p.Asn32Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003460923]|Hereditary cancer-predisposing syndrome [RCV000130360] Chr5:112754984 [GRCh38]
Chr5:112090681 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3426T>A (p.Asn1142Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650395]|Hereditary cancer-predisposing syndrome [RCV000130415]|not provided [RCV000235983] Chr5:112839020 [GRCh38]
Chr5:112174717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del) microsatellite Familial adenomatous polyposis 1 [RCV000477415]|Familial adenomatous polyposis 1 [RCV002228496]|Hereditary cancer-predisposing syndrome [RCV000130417]|not provided [RCV000484746]|not specified [RCV002267877] Chr5:112841014..112841016 [GRCh38]
Chr5:112176711..112176713 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4247G>A (p.Gly1416Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534381]|Hereditary cancer-predisposing syndrome [RCV000130628] Chr5:112839841 [GRCh38]
Chr5:112175538 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646C>G (p.Arg216Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764868]|Hereditary cancer-predisposing syndrome [RCV000130641] Chr5:112792446 [GRCh38]
Chr5:112128143 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.449A>G (p.Lys150Arg) single nucleotide variant Colorectal adenoma [RCV000148370]|Familial adenomatous polyposis 1 [RCV000206082]|Hereditary cancer-predisposing syndrome [RCV000130643]|not provided [RCV000656744]|not specified [RCV000211892] Chr5:112775655 [GRCh38]
Chr5:112111352 [GRCh37]
Chr5:5q22.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.5690A>C (p.His1897Pro) single nucleotide variant APC-related condition [RCV003905232]|Familial adenomatous polyposis 1 [RCV000198116]|Familial adenomatous polyposis 1 [RCV002243795]|Hereditary cancer-predisposing syndrome [RCV000130647]|not provided [RCV000586043] Chr5:112841284 [GRCh38]
Chr5:112176981 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs) deletion Carcinoma of colon [RCV000501023]|Familial adenomatous polyposis 1 [RCV000206027]|Familial adenomatous polyposis 1 [RCV002228177]|Familial multiple polyposis syndrome [RCV001731359]|Hereditary cancer-predisposing syndrome [RCV000130649]|not provided [RCV000201995] Chr5:112838793..112838796 [GRCh38]
Chr5:112174490..112174493 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp) single nucleotide variant APC-Associated Polyposis Disorders [RCV001153054]|Familial adenomatous polyposis 1 [RCV000205704]|Familial adenomatous polyposis 1 [RCV003315896]|Hereditary cancer-predisposing syndrome [RCV000130666]|not provided [RCV000985318]|not specified [RCV003226210] Chr5:112842983 [GRCh38]
Chr5:112178680 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2476T>G (p.Leu826Val) single nucleotide variant APC-related condition [RCV003952684]|Desmoid disease, hereditary [RCV002492506]|Familial adenomatous polyposis 1 [RCV000199213]|Familial adenomatous polyposis 1 [RCV003534382]|Hereditary cancer-predisposing syndrome [RCV000130791]|not provided [RCV001711298]|not specified [RCV000482678] Chr5:112838070 [GRCh38]
Chr5:112173767 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.3691C>G (p.Leu1231Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514736]|Familial adenomatous polyposis 1 [RCV003650396]|Hereditary cancer-predisposing syndrome [RCV000130799]|not provided [RCV000484966] Chr5:112839285 [GRCh38]
Chr5:112174982 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.692T>C (p.Ile231Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000130800] Chr5:112792492 [GRCh38]
Chr5:112128189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6637A>G (p.Met2213Val) single nucleotide variant APC-related condition [RCV003905234]|Familial adenomatous polyposis 1 [RCV000409644]|Familial adenomatous polyposis 1 [RCV003315899]|Hereditary cancer [RCV003492605]|Hereditary cancer-predisposing syndrome [RCV000130848]|not provided [RCV000236813]|not specified [RCV001174857] Chr5:112842231 [GRCh38]
Chr5:112177928 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.5(APC):c.3460_3462delGAA (p.Glu1157del) deletion Familial adenomatous polyposis 1 [RCV000199091]|Hereditary cancer-predisposing syndrome [RCV000131007]|Neoplastic Syndromes, Hereditary [RCV000131007] Chr5:112839054..112839056 [GRCh38]
Chr5:112174751..112174753 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.5998A>G (p.Ser2000Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534383]|Hereditary cancer-predisposing syndrome [RCV000131122]|not specified [RCV000780833] Chr5:112841592 [GRCh38]
Chr5:112177289 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-3T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000686573]|Familial adenomatous polyposis 1 [RCV003337236]|Familial adenomatous polyposis 1 [RCV003743589]|Hereditary cancer-predisposing syndrome [RCV000131175]|not provided [RCV001353717] Chr5:112775626 [GRCh38]
Chr5:112111323 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6386C>T (p.Ser2129Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003105795]|Hereditary cancer-predisposing syndrome [RCV000131185]|not provided [RCV001200169] Chr5:112841980 [GRCh38]
Chr5:112177677 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer) deletion Familial adenomatous polyposis 1 [RCV003335122]|Familial adenomatous polyposis 1 [RCV003650397]|Hereditary cancer-predisposing syndrome [RCV000131187]|not provided [RCV000211899] Chr5:112837598 [GRCh38]
Chr5:112173295 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157157]|Diffuse midline glioma, H3 K27-altered [RCV003325188]|Familial adenomatous polyposis 1 [RCV000232313]|Familial adenomatous polyposis 1 [RCV003315903]|Hereditary cancer [RCV003492615]|Hereditary cancer-predisposing syndrome [RCV000131191]|not provided [RCV000211915]|not specified [RCV001818321] Chr5:112840359 [GRCh38]
Chr5:112176056 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3260_3261del (p.Leu1087fs) deletion Familial adenomatous polyposis 1 [RCV001290141]|Familial adenomatous polyposis 1 [RCV003534384]|Hereditary cancer-predisposing syndrome [RCV000131192] Chr5:112838853..112838854 [GRCh38]
Chr5:112174550..112174551 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3118A>T (p.Arg1040Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764869]|Hereditary cancer-predisposing syndrome [RCV000131194] Chr5:112838712 [GRCh38]
Chr5:112174409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8161C>T (p.Arg2721Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000412203]|Familial adenomatous polyposis 1 [RCV003534385]|Hereditary cancer-predisposing syndrome [RCV000131206]|not provided [RCV000679089] Chr5:112843755 [GRCh38]
Chr5:112179452 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5274T>A (p.Ser1758=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000198344]|Familial adenomatous polyposis 1 [RCV003743590]|Hereditary cancer-predisposing syndrome [RCV000131241]|not provided [RCV000679064]|not specified [RCV000502224] Chr5:112840868 [GRCh38]
Chr5:112176565 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3205A>G (p.Arg1069Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000230602]|Hereditary cancer-predisposing syndrome [RCV000131243]|not provided [RCV000758727] Chr5:112838799 [GRCh38]
Chr5:112174496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000148368]|Familial adenomatous polyposis 1 [RCV003534386]|Hereditary cancer-predisposing syndrome [RCV000131255]|not provided [RCV000587871]|not specified [RCV001175337] Chr5:112840512 [GRCh38]
Chr5:112176209 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4441G>A (p.Val1481Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228321]|Hereditary cancer-predisposing syndrome [RCV000131289] Chr5:112840035 [GRCh38]
Chr5:112175732 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.848G>A (p.Arg283Gln) single nucleotide variant APC-related condition [RCV003925279]|Familial adenomatous polyposis 1 [RCV000167872]|Familial adenomatous polyposis 1 [RCV003534387]|Hereditary cancer-predisposing syndrome [RCV000131302]|not provided [RCV000211895]|not specified [RCV000779725] Chr5:112815508 [GRCh38]
Chr5:112151205 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.1214G>A (p.Arg405Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764870]|Hereditary cancer-predisposing syndrome [RCV000131387]|not specified [RCV003320573] Chr5:112819246 [GRCh38]
Chr5:112154943 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.52A>G (p.Met18Val) single nucleotide variant Carcinoma of colon [RCV000502641]|Familial adenomatous polyposis 1 [RCV003764872]|Hereditary cancer-predisposing syndrome [RCV000131435] Chr5:112754942 [GRCh38]
Chr5:112090639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000229880]|Familial adenomatous polyposis 1 [RCV003315910]|Hereditary cancer-predisposing syndrome [RCV000131566]|not provided [RCV000656752]|not specified [RCV000478677] Chr5:112843380 [GRCh38]
Chr5:112179077 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210106]|Familial adenomatous polyposis 1 [RCV000234415]|Familial adenomatous polyposis 1 [RCV002228664]|Hereditary cancer-predisposing syndrome [RCV000131588]|not provided [RCV000590651]|not specified [RCV000211929] Chr5:112842273 [GRCh38]
Chr5:112177970 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.473A>T (p.Tyr158Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514747]|Hereditary cancer-predisposing syndrome [RCV000131591] Chr5:112775679 [GRCh38]
Chr5:112111376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6249A>G (p.Ile2083Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002512548]|Familial adenomatous polyposis 1 [RCV003534388]|Hereditary cancer-predisposing syndrome [RCV000131598]|not provided [RCV000759439] Chr5:112841843 [GRCh38]
Chr5:112177540 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2442T>G (p.Phe814Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000131623] Chr5:112838036 [GRCh38]
Chr5:112173733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6373_6376del (p.Ser2125fs) deletion Hereditary cancer-predisposing syndrome [RCV000131645] Chr5:112841965..112841968 [GRCh38]
Chr5:112177662..112177665 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4216C>T (p.Gln1406Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337237]|Hereditary cancer-predisposing syndrome [RCV000131673] Chr5:112839810 [GRCh38]
Chr5:112175507 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.426_427del (p.Leu143fs) deletion Carcinoma of colon [RCV001353612]|Familial adenomatous polyposis 1 [RCV000144571]|Familial multiple polyposis syndrome [RCV000504124]|Hereditary cancer-predisposing syndrome [RCV000131775]|not provided [RCV000202026]|not specified [RCV000506761] Chr5:112775632..112775633 [GRCh38]
Chr5:112111329..112111330 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2707G>T (p.Asp903Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000131984] Chr5:112838301 [GRCh38]
Chr5:112173998 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-13A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003148655]|Hereditary cancer-predisposing syndrome [RCV000128882]|not provided [RCV001358091]|not specified [RCV000616067] Chr5:112827916 [GRCh38]
Chr5:112163613 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514750]|Hereditary cancer-predisposing syndrome [RCV000132104]|not provided [RCV000590671]|not specified [RCV002265621] Chr5:112839943 [GRCh38]
Chr5:112175640 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3548A>G (p.Tyr1183Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534389]|Hereditary cancer-predisposing syndrome [RCV000132120] Chr5:112839142 [GRCh38]
Chr5:112174839 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7132C>G (p.Leu2378Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764874]|Hereditary cancer-predisposing syndrome [RCV000132185] Chr5:112842726 [GRCh38]
Chr5:112178423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1101del (p.Val368fs) deletion Hereditary cancer-predisposing syndrome [RCV000132249] Chr5:112819133 [GRCh38]
Chr5:112154830 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn) single nucleotide variant APC-related condition [RCV003407537]|Carcinoma of colon [RCV000481415]|Familial adenomatous polyposis 1 [RCV000409539]|Familial adenomatous polyposis 1 [RCV003764862]|Hereditary cancer-predisposing syndrome [RCV000128974]|not provided [RCV000656750]|not specified [RCV001731385] Chr5:112843062 [GRCh38]
Chr5:112178759 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) single nucleotide variant Colorectal adenoma [RCV000148367]|Familial adenomatous polyposis 1 [RCV002514708]|Familial adenomatous polyposis 1 [RCV003650387]|Hereditary cancer-predisposing syndrome [RCV000129037]|not provided [RCV000236515]|not specified [RCV000507260] Chr5:112840326 [GRCh38]
Chr5:112176023 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV001824638]|Familial adenomatous polyposis 1 [RCV003325186]|Hereditary cancer-predisposing syndrome [RCV000129062]|not provided [RCV000480098]|not specified [RCV002271411] Chr5:112842571 [GRCh38]
Chr5:112178268 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs) deletion APC-related condition [RCV003925272]|Familial adenomatous polyposis 1 [RCV002514709]|Familial adenomatous polyposis 1 [RCV003534369]|Familial multiple polyposis syndrome [RCV000825610]|Hereditary cancer-predisposing syndrome [RCV000129077]|not provided [RCV000202142] Chr5:112841528..112841531 [GRCh38]
Chr5:112177225..112177228 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4055T>C (p.Val1352Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646425]|Hereditary cancer-predisposing syndrome [RCV000129128]|Ovarian cancer [RCV003153412]|not provided [RCV001704052]|not specified [RCV000483615] Chr5:112839649 [GRCh38]
Chr5:112175346 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2845A>G (p.Met949Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514710]|Familial adenomatous polyposis 1 [RCV003534370]|Hereditary cancer-predisposing syndrome [RCV000129130]|Inborn genetic diseases [RCV002512528]|not provided [RCV000662346] Chr5:112838439 [GRCh38]
Chr5:112174136 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.5257G>C (p.Ala1753Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514711]|Familial adenomatous polyposis 1 [RCV003650388]|Hereditary cancer-predisposing syndrome [RCV000129133] Chr5:112840851 [GRCh38]
Chr5:112176548 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2926A>G (p.Arg976Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534390]|Hereditary cancer-predisposing syndrome [RCV000132440] Chr5:112838520 [GRCh38]
Chr5:112174217 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1895T>C (p.Ile632Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514712]|Familial adenomatous polyposis 1 [RCV003743583]|Hereditary cancer-predisposing syndrome [RCV000129152]|not provided [RCV000211901]|not specified [RCV001778746] Chr5:112835102 [GRCh38]
Chr5:112170799 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6818G>T (p.Gly2273Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534371]|Hereditary cancer-predisposing syndrome [RCV000129164] Chr5:112842412 [GRCh38]
Chr5:112178109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2413C>G (p.Arg805Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514714]|Hereditary cancer-predisposing syndrome [RCV000129231] Chr5:112838007 [GRCh38]
Chr5:112173704 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.637C>T (p.Arg213Ter) single nucleotide variant Carcinoma of colon [RCV001353439]|Desmoid disease, hereditary [RCV000763535]|Familial adenomatous polyposis 1 [RCV002512529]|Familial adenomatous polyposis 1 [RCV003534372]|Familial multiple polyposis syndrome [RCV000825611]|Hereditary cancer-predisposing syndrome [RCV000129233]|not provided [RCV000202175] Chr5:112780895 [GRCh38]
Chr5:112116592 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8146G>A (p.Val2716Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV000206635]|Familial adenomatous polyposis 1 [RCV002228307]|Hereditary cancer-predisposing syndrome [RCV000129235]|not provided [RCV003148656] Chr5:112843740 [GRCh38]
Chr5:112179437 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6779G>A (p.Ser2260Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003467106]|Hereditary cancer-predisposing syndrome [RCV000129236]|not provided [RCV000479990] Chr5:112842373 [GRCh38]
Chr5:112178070 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2218G>C (p.Ala740Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003460891]|Hereditary cancer-predisposing syndrome [RCV000129237]|not provided [RCV003159100] Chr5:112837812 [GRCh38]
Chr5:112173509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5656G>A (p.Glu1886Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129249] Chr5:112841250 [GRCh38]
Chr5:112176947 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1914A>G (p.Ile638Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650389]|Hereditary cancer-predisposing syndrome [RCV000129257] Chr5:112835121 [GRCh38]
Chr5:112170818 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2308T>C (p.Ser770Pro) single nucleotide variant APC-related condition [RCV003982900]|Familial adenomatous polyposis 1 [RCV000231752]|Familial adenomatous polyposis 1 [RCV003534373]|Hereditary cancer-predisposing syndrome [RCV000129288]|not provided [RCV003332125] Chr5:112837902 [GRCh38]
Chr5:112173599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) microsatellite APC-related condition [RCV003891665]|Familial adenomatous polyposis 1 [RCV001080265]|Familial adenomatous polyposis 1 [RCV003315874]|Hereditary cancer-predisposing syndrome [RCV000129306]|not provided [RCV000588527]|not specified [RCV001818301] Chr5:112841945..112841946 [GRCh38]
Chr5:112177642..112177643 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu) single nucleotide variant Colorectal cancer [RCV000677788]|Familial adenomatous polyposis 1 [RCV000206391]|Hereditary cancer-predisposing syndrome [RCV000129346] Chr5:112840884 [GRCh38]
Chr5:112176581 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1571G>C (p.Gly524Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000411022]|Familial adenomatous polyposis 1 [RCV003534391]|Hereditary cancer-predisposing syndrome [RCV000132492] Chr5:112827951 [GRCh38]
Chr5:112163648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) single nucleotide variant APC-related condition [RCV003891672]|Familial adenomatous polyposis 1 [RCV000168435]|Familial adenomatous polyposis 1 [RCV003650398]|Hereditary cancer-predisposing syndrome [RCV000132523]|not provided [RCV000586652]|not specified [RCV000722127] Chr5:112819171 [GRCh38]
Chr5:112154868 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del) microsatellite Familial adenomatous polyposis 1 [RCV002514757]|Familial adenomatous polyposis 1 [RCV003650399]|Hereditary cancer-predisposing syndrome [RCV000132525]|not provided [RCV000480821]|not specified [RCV002247511] Chr5:112840296..112840298 [GRCh38]
Chr5:112175993..112175995 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.935dup (p.Glu313fs) duplication Familial adenomatous polyposis 1 [RCV002514717]|Familial adenomatous polyposis 1 [RCV003743584]|Hereditary cancer-predisposing syndrome [RCV000129375]|not provided [RCV000202006]|not specified [RCV001800427] Chr5:112818966..112818967 [GRCh38]
Chr5:112154663..112154664 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.3412G>C (p.Asp1138His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764863]|Hereditary cancer-predisposing syndrome [RCV000129376]|not provided [RCV001775620] Chr5:112839006 [GRCh38]
Chr5:112174703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) single nucleotide variant Colorectal adenoma [RCV000148362]|Familial adenomatous polyposis 1 [RCV000410318]|Familial adenomatous polyposis 1 [RCV003315875]|Hereditary cancer-predisposing syndrome [RCV000129383]|not provided [RCV000657075]|not specified [RCV000235766] Chr5:112843977 [GRCh38]
Chr5:112179674 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.811A>G (p.Met271Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003764864]|Hereditary cancer-predisposing syndrome [RCV000129401]|Rectum adenocarcinoma [RCV000677764]|not provided [RCV001808396] Chr5:112801360 [GRCh38]
Chr5:112137057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2419GAT[1] (p.Asp808del) microsatellite Familial adenomatous polyposis 1 [RCV003460893]|Hereditary cancer-predisposing syndrome [RCV000129411]|not provided [RCV000477999]|not specified [RCV001731387] Chr5:112838011..112838013 [GRCh38]
Chr5:112173708..112173710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2780C>G (p.Ala927Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514719]|Familial adenomatous polyposis 1 [RCV003650390]|Hereditary cancer-predisposing syndrome [RCV000129473]|not provided [RCV000483264]|not specified [RCV000779714] Chr5:112838374 [GRCh38]
Chr5:112174071 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4828A>G (p.Ser1610Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650391]|Hereditary cancer-predisposing syndrome [RCV000129489]|not provided [RCV000679060] Chr5:112840422 [GRCh38]
Chr5:112176119 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155576]|Familial adenomatous polyposis 1 [RCV000411270]|Familial adenomatous polyposis 1 [RCV003315876]|Hereditary cancer-predisposing syndrome [RCV000129560]|not provided [RCV000985310] Chr5:112841473 [GRCh38]
Chr5:112177170 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000167896]|Familial adenomatous polyposis 1 [RCV003315877]|Hereditary cancer-predisposing syndrome [RCV000129585]|not provided [RCV000588058]|not specified [RCV000211912] Chr5:112839666 [GRCh38]
Chr5:112175363 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4525C>G (p.Leu1509Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002514721]|Familial adenomatous polyposis 1 [RCV003534374]|Hereditary cancer-predisposing syndrome [RCV000129621]|not provided [RCV001786335] Chr5:112840119 [GRCh38]
Chr5:112175816 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1171A>G (p.Ile391Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129630] Chr5:112819203 [GRCh38]
Chr5:112154900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.146A>G (p.Lys49Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129631] Chr5:112766336 [GRCh38]
Chr5:112102033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5011G>C (p.Ala1671Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129672] Chr5:112840605 [GRCh38]
Chr5:112176302 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3079T>C (p.Tyr1027His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743585]|Hereditary cancer-predisposing syndrome [RCV000129685] Chr5:112838673 [GRCh38]
Chr5:112174370 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.854A>G (p.Asp285Gly) single nucleotide variant Desmoid disease, hereditary [RCV002478388]|Familial adenomatous polyposis 1 [RCV000229223]|Familial adenomatous polyposis 1 [RCV003315881]|Hereditary cancer-predisposing syndrome [RCV000129720]|not provided [RCV000211896] Chr5:112815514 [GRCh38]
Chr5:112151211 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3824G>C (p.Ser1275Thr) single nucleotide variant APC-related condition [RCV003407543]|Familial adenomatous polyposis 1 [RCV000412401]|Familial adenomatous polyposis 1 [RCV003315882]|Hereditary cancer-predisposing syndrome [RCV000129750]|not provided [RCV000211911]|not specified [RCV001818303] Chr5:112839418 [GRCh38]
Chr5:112175115 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3970C>T (p.Pro1324Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003633483]|Hereditary cancer-predisposing syndrome [RCV000129783] Chr5:112839564 [GRCh38]
Chr5:112175261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1564A>G (p.Met522Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000469283]|Familial adenomatous polyposis 1 [RCV002228650]|Hereditary cancer-predisposing syndrome [RCV000129857] Chr5:112827944 [GRCh38]
Chr5:112163641 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.147_150del (p.Lys49fs) deletion Carcinoma of colon [RCV000502854]|Familial adenomatous polyposis 1 [RCV000552842]|Familial adenomatous polyposis 1 [RCV003743586]|Familial multiple polyposis syndrome [RCV001778749]|Gastric cancer [RCV003162574]|Hereditary cancer-predisposing syndrome [RCV000129859]|not provided [RCV000497263] Chr5:112766335..112766338 [GRCh38]
Chr5:112102032..112102035 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6145A>G (p.Lys2049Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534375]|Hereditary cancer-predisposing syndrome [RCV000129862]|not provided [RCV003235054] Chr5:112841739 [GRCh38]
Chr5:112177436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003335218]|Hereditary cancer-predisposing syndrome [RCV000563395]|not provided [RCV000202262] Chr5:112775739 [GRCh38]
Chr5:112111436 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1409-1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002519584]|Familial adenomatous polyposis 1 [RCV003534477]|Hereditary cancer-predisposing syndrome [RCV000570454]|not provided [RCV000202308] Chr5:112827107 [GRCh38]
Chr5:112162804 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.5(APC):c.1744-?_1958+?del (p.(?)) deletion not provided [RCV000201989]   pathogenic
NM_000038.6(APC):c.1312+1G>A single nucleotide variant Carcinoma of colon [RCV001354196]|Familial adenomatous polyposis 1 [RCV002517320]|Familial adenomatous polyposis 1 [RCV003335198]|Hereditary cancer-predisposing syndrome [RCV000493121]|not provided [RCV000202015] Chr5:112819345 [GRCh38]
Chr5:112155042 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.645+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002517337]|Familial adenomatous polyposis 1 [RCV003335222]|Hereditary cancer-predisposing syndrome [RCV001025281]|not provided [RCV000202059] Chr5:112780904 [GRCh38]
Chr5:112116601 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.531+2T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002519591]|Familial adenomatous polyposis 1 [RCV003650458]|Familial multiple polyposis syndrome [RCV001193574]|Hereditary cancer-predisposing syndrome [RCV000491613]|not provided [RCV000202121] Chr5:112775739 [GRCh38]
Chr5:112111436 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1959-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002519586]|Familial adenomatous polyposis 1 [RCV003743627]|Hereditary cancer-predisposing syndrome [RCV002415860]|not provided [RCV000202143] Chr5:112837552 [GRCh38]
Chr5:112173249 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1312+3A>G single nucleotide variant APC-related condition [RCV003422107]|Carcinoma of colon [RCV000500343]|Desmoid disease, hereditary [RCV000763540]|Familial adenomatous polyposis 1 [RCV000204247]|Familial multiple polyposis syndrome [RCV003987449]|Hereditary cancer-predisposing syndrome [RCV000490831]|not provided [RCV000202161] Chr5:112819347 [GRCh38]
Chr5:112155044 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.5(APC):c.1409-?_1743+?del deletion not provided [RCV000202168]   pathogenic
NM_000038.6(APC):c.1549-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003335200]|not provided [RCV000202184] Chr5:112827928 [GRCh38]
Chr5:112163625 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.524_531+4del deletion Familial adenomatous polyposis 1 [RCV003534486]|Hereditary cancer-predisposing syndrome [RCV000568686]|not provided [RCV000202212] Chr5:112775727..112775738 [GRCh38]
Chr5:112111424..112111435 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1 copy number loss See cases [RCV000135699] Chr5:107002209..118025316 [GRCh38]
Chr5:106337910..117361011 [GRCh37]
Chr5:106365809..117388910 [NCBI36]
Chr5:5q21.3-23.1		 pathogenic
GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 copy number loss See cases [RCV000135549] Chr5:111463016..127193038 [GRCh38]
Chr5:110798714..126528730 [GRCh37]
Chr5:110826613..126556629 [NCBI36]
Chr5:5q22.1-23.2		 pathogenic
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517343]|Familial adenomatous polyposis 1 [RCV003534490]|Familial multiple polyposis syndrome [RCV000202809]|Hereditary cancer-predisposing syndrome [RCV000573374]|not provided [RCV000590375]|not specified [RCV000236933] Chr5:112843167 [GRCh38]
Chr5:112178864 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 copy number loss See cases [RCV000139235] Chr5:110687442..130103838 [GRCh38]
Chr5:110023143..129439531 [GRCh37]
Chr5:110051042..129467430 [NCBI36]
Chr5:5q22.1-23.3		 pathogenic|uncertain significance
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1		 pathogenic
GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1 copy number loss See cases [RCV000140791] Chr5:112323517..117773507 [GRCh38]
Chr5:111659214..117109202 [GRCh37]
Chr5:111687113..117137101 [NCBI36]
Chr5:5q22.2-23.1		 pathogenic
GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1 copy number loss See cases [RCV000142171] Chr5:106586078..113006585 [GRCh38]
Chr5:105921779..112342282 [GRCh37]
Chr5:105949678..112370181 [NCBI36]
Chr5:5q21.3-22.2		 pathogenic
GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1 copy number loss See cases [RCV000143326] Chr5:108308463..125777797 [GRCh38]
Chr5:107644164..125113490 [GRCh37]
Chr5:107672063..125141389 [NCBI36]
Chr5:5q21.3-23.2		 pathogenic
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 copy number loss See cases [RCV000143249] Chr5:93193104..113287795 [GRCh38]
Chr5:92528810..112623492 [GRCh37]
Chr5:92554566..112651391 [NCBI36]
Chr5:5q15-22.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
NM_000038.4(APC):c.(?_1)_(8477_?)del deletion Familial multiple polyposis syndrome [RCV000154560] Chr5:112754891..112844071 [GRCh38]
Chr5:112090588..112179768 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4255del (p.Ser1419fs) deletion Familial multiple polyposis syndrome [RCV000154615] Chr5:112839848 [GRCh38]
Chr5:112175545 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer) deletion Familial adenomatous polyposis 1 [RCV000157585]|Familial adenomatous polyposis 1 [RCV003335140]|not provided [RCV000657827] Chr5:112775683 [GRCh38]
Chr5:112111380 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4618G>C (p.Glu1540Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765010]|Hereditary cancer-predisposing syndrome [RCV002336375] Chr5:112840212 [GRCh38]
Chr5:112175909 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3624C>T (p.Thr1208=) single nucleotide variant Carcinoma of colon [RCV001353704]|Familial adenomatous polyposis 1 [RCV003650410]|Hereditary cancer-predisposing syndrome [RCV000163381]|not provided [RCV000679057]|not specified [RCV000440935] Chr5:112839218 [GRCh38]
Chr5:112174915 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4906G>T (p.Asp1636Tyr) single nucleotide variant APC-related condition [RCV003398826]|Familial adenomatous polyposis 1 [RCV000161934]|Familial adenomatous polyposis 1 [RCV003315967]|Hereditary cancer-predisposing syndrome [RCV000568367]|not provided [RCV000236412] Chr5:112840500 [GRCh38]
Chr5:112176197 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6289G>C (p.Glu2097Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000161940] Chr5:112841883 [GRCh38]
Chr5:112177580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3149del (p.Ala1050fs) deletion APC-related condition [RCV003975229]|Desmoid disease, hereditary [RCV003227683]|Familial adenomatous polyposis 1 [RCV000161944]|Familial adenomatous polyposis 1 [RCV002228543]|Familial multiple polyposis syndrome [RCV003323418]|Hereditary cancer-predisposing syndrome [RCV000491386]|not provided [RCV000508295] Chr5:112838743 [GRCh38]
Chr5:112174440 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.974A>G (p.His325Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743591]|not provided [RCV000159508] Chr5:112819006 [GRCh38]
Chr5:112154703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2782G>A (p.Ala928Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534395]|Hereditary cancer-predisposing syndrome [RCV002433712]|not provided [RCV000159509] Chr5:112838376 [GRCh38]
Chr5:112174073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2933A>C (p.Gln978Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650401]|Hereditary cancer-predisposing syndrome [RCV002433713]|not provided [RCV000159510] Chr5:112838527 [GRCh38]
Chr5:112174224 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3347G>A (p.Gly1116Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534396]|Hereditary cancer-predisposing syndrome [RCV001020050]|not provided [RCV000159511] Chr5:112838941 [GRCh38]
Chr5:112174638 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3387G>T (p.Leu1129Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003474815]|Hereditary cancer-predisposing syndrome [RCV000561698]|not provided [RCV000159512] Chr5:112838981 [GRCh38]
Chr5:112174678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4597A>G (p.Asn1533Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229385]|Familial adenomatous polyposis 1 [RCV003474816]|Hereditary cancer-predisposing syndrome [RCV000583326]|not provided [RCV000159513] Chr5:112840191 [GRCh38]
Chr5:112175888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6173G>A (p.Gly2058Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516404]|Familial adenomatous polyposis 1 [RCV003650402]|Hereditary cancer-predisposing syndrome [RCV000218693]|not provided [RCV000759438] Chr5:112841767 [GRCh38]
Chr5:112177464 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.5(APC):c.532-941G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000159516] Chr5:112779849 [GRCh38]
Chr5:112115546 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1312+3_1312+4del deletion Familial adenomatous polyposis 1 [RCV000198238]|not provided [RCV000159517] Chr5:112819346..112819347 [GRCh38]
Chr5:112155043..112155044 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3049_3051del (p.Asn1017del) deletion Familial adenomatous polyposis 1 [RCV003534397]|Hereditary cancer-predisposing syndrome [RCV000569152]|not provided [RCV000679054] Chr5:112838641..112838643 [GRCh38]
Chr5:112174338..112174340 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-9A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534398]|Hereditary cancer-predisposing syndrome [RCV000491201]|not provided [RCV001800467]|not specified [RCV000159519] Chr5:112821887 [GRCh38]
Chr5:112157584 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3006C>T (p.Ala1002=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001253906]|Carcinoma of colon [RCV001356478]|Familial adenomatous polyposis 1 [RCV000205109]|Familial adenomatous polyposis 1 [RCV003650403]|Hereditary cancer-predisposing syndrome [RCV000159520]|not provided [RCV000858104]|not specified [RCV000211905] Chr5:112838600 [GRCh38]
Chr5:112174297 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000038.6(APC):c.6526T>C (p.Leu2176=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000282259]|Carcinoma of colon [RCV001356057]|Familial adenomatous polyposis 1 [RCV003650404]|Hereditary cancer-predisposing syndrome [RCV000159522]|not provided [RCV000587270]|not specified [RCV000211925] Chr5:112842120 [GRCh38]
Chr5:112177817 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.423-4del deletion APC-related condition [RCV003975227]|Desmoid disease, hereditary [RCV002498791]|Familial adenomatous polyposis 1 [RCV002229391]|Familial adenomatous polyposis 1 [RCV003148663]|Hereditary cancer-predisposing syndrome [RCV000159526]|not provided [RCV001353891]|not specified [RCV000202236] Chr5:112775613 [GRCh38]
Chr5:112111310 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.450A>G (p.Lys150=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001156933]|Carcinoma of colon [RCV001353868]|Familial adenomatous polyposis 1 [RCV000199795]|Familial adenomatous polyposis 1 [RCV003743592]|Hereditary cancer-predisposing syndrome [RCV000159527]|not provided [RCV000759433]|not specified [RCV000211893] Chr5:112775656 [GRCh38]
Chr5:112111353 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000038.6(APC):c.918T>G (p.Ser306Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000466236]|Familial adenomatous polyposis 1 [RCV003650405]|Hereditary cancer-predisposing syndrome [RCV000217691]|not provided [RCV000159528]|not specified [RCV000779736] Chr5:112815578 [GRCh38]
Chr5:112151275 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1154C>T (p.Ala385Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516407]|not provided [RCV000159529] Chr5:112819186 [GRCh38]
Chr5:112154883 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1241G>A (p.Arg414His) single nucleotide variant Desmoid disease, hereditary [RCV002484993]|Familial adenomatous polyposis 1 [RCV000227001]|Familial adenomatous polyposis 1 [RCV003315945]|Hereditary cancer-predisposing syndrome [RCV000568544]|not provided [RCV000159530]|not specified [RCV000779739] Chr5:112819273 [GRCh38]
Chr5:112154970 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1290C>T (p.Gly430=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516408]|Hereditary cancer-predisposing syndrome [RCV000567240]|not provided [RCV000159531]|not specified [RCV003114307] Chr5:112819322 [GRCh38]
Chr5:112155019 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1291A>G (p.Met431Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000230899]|Familial adenomatous polyposis 1 [RCV003534399]|Hereditary cancer-predisposing syndrome [RCV000579996]|not provided [RCV000656745]|not specified [RCV000159532] Chr5:112819323 [GRCh38]
Chr5:112155020 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1391A>G (p.His464Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000795734]|Familial adenomatous polyposis 1 [RCV003534400]|Hereditary cancer-predisposing syndrome [RCV000217103]|not provided [RCV000159533] Chr5:112821974 [GRCh38]
Chr5:112157671 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1450G>C (p.Glu484Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515098]|Familial adenomatous polyposis 1 [RCV003534401]|Hereditary cancer-predisposing syndrome [RCV001175688]|not provided [RCV000159534] Chr5:112827149 [GRCh38]
Chr5:112162846 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229755]|Hereditary cancer-predisposing syndrome [RCV000772640]|not provided [RCV000581316] Chr5:112835074 [GRCh38]
Chr5:112170771 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.1904G>C (p.Gly635Ala) single nucleotide variant Carcinoma of colon [RCV001353861]|Familial adenomatous polyposis 1 [RCV003534402]|Hereditary cancer-predisposing syndrome [RCV000491278]|not provided [RCV000766428]|not specified [RCV000159537] Chr5:112835111 [GRCh38]
Chr5:112170808 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1987C>T (p.Gln663Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229398]|Hereditary cancer-predisposing syndrome [RCV003380497]|not provided [RCV000159538] Chr5:112837581 [GRCh38]
Chr5:112173278 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2461G>A (p.Val821Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000205053]|Familial adenomatous polyposis 1 [RCV003743593]|Hereditary cancer-predisposing syndrome [RCV000572390]|not provided [RCV000159539]|not specified [RCV000779726] Chr5:112838055 [GRCh38]
Chr5:112173752 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2593C>G (p.Pro865Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534403]|Hereditary cancer-predisposing syndrome [RCV002453558]|not provided [RCV000159541]|not specified [RCV002271425] Chr5:112838187 [GRCh38]
Chr5:112173884 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2659A>G (p.Ile887Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204149]|Familial adenomatous polyposis 1 [RCV003315946]|Familial adenomatous polyposis 1 [RCV003743594]|Hereditary cancer-predisposing syndrome [RCV001016234]|not provided [RCV000159542] Chr5:112838253 [GRCh38]
Chr5:112173950 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2786A>C (p.His929Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534404]|Hereditary cancer-predisposing syndrome [RCV001804882]|not provided [RCV000159543] Chr5:112838380 [GRCh38]
Chr5:112174077 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2957A>G (p.Tyr986Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229758]|Familial adenomatous polyposis 1 [RCV003462064]|Hereditary cancer-predisposing syndrome [RCV000563690]|not provided [RCV000159545] Chr5:112838551 [GRCh38]
Chr5:112174248 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3073A>G (p.Ile1025Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743595]|Hereditary cancer-predisposing syndrome [RCV000218802]|not provided [RCV000159546] Chr5:112838667 [GRCh38]
Chr5:112174364 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000234536]|Familial adenomatous polyposis 1 [RCV003315947]|Hereditary cancer-predisposing syndrome [RCV000159547]|not provided [RCV000211907]|not specified [RCV002307414] Chr5:112838839 [GRCh38]
Chr5:112174536 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3295G>A (p.Val1099Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000691255]|Familial adenomatous polyposis 1 [RCV003534405]|Hereditary cancer-predisposing syndrome [RCV000159548]|not provided [RCV000211909] Chr5:112838889 [GRCh38]
Chr5:112174586 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln) single nucleotide variant Carcinoma of colon [RCV000211910]|Familial adenomatous polyposis 1 [RCV003534406]|Hereditary cancer-predisposing syndrome [RCV000159549]|not provided [RCV000586988]|not specified [RCV001818351] Chr5:112839009 [GRCh38]
Chr5:112174706 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3560T>C (p.Ile1187Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650406]|Hereditary cancer-predisposing syndrome [RCV000776354]|not provided [RCV000159550]|not specified [RCV003493463] Chr5:112839154 [GRCh38]
Chr5:112174851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3602C>G (p.Ser1201Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453559]|not provided [RCV000159551] Chr5:112839196 [GRCh38]
Chr5:112174893 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4063T>C (p.Ser1355Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534407]|Hereditary cancer-predisposing syndrome [RCV000774670]|not provided [RCV000159552] Chr5:112839657 [GRCh38]
Chr5:112175354 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4073C>T (p.Ala1358Val) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210103]|Familial adenomatous polyposis 1 [RCV003534408]|Hereditary cancer-predisposing syndrome [RCV000159553]|not provided [RCV000998414]|not specified [RCV000235095] Chr5:112839667 [GRCh38]
Chr5:112175364 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4141C>A (p.Pro1381Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326914]|not provided [RCV000159554] Chr5:112839735 [GRCh38]
Chr5:112175432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4594G>A (p.Asp1532Asn) single nucleotide variant APC-Associated Polyposis Disorders [RCV000291608]|Familial adenomatous polyposis 1 [RCV000810645]|Familial adenomatous polyposis 1 [RCV003534409]|Hereditary cancer-predisposing syndrome [RCV000563203]|not provided [RCV000159556]|not specified [RCV002509260] Chr5:112840188 [GRCh38]
Chr5:112175885 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5263G>T (p.Ala1755Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765004]|Hereditary cancer-predisposing syndrome [RCV000569802]|not provided [RCV000159557] Chr5:112840857 [GRCh38]
Chr5:112176554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5336T>C (p.Ile1779Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534410]|Hereditary cancer-predisposing syndrome [RCV002345548]|not provided [RCV000159558] Chr5:112840930 [GRCh38]
Chr5:112176627 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5779C>A (p.Leu1927Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000199957]|Familial adenomatous polyposis 1 [RCV003315948]|Familial adenomatous polyposis 1 [RCV003743596]|Hereditary cancer-predisposing syndrome [RCV000218036]|not provided [RCV000588338] Chr5:112841373 [GRCh38]
Chr5:112177070 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6099C>G (p.Asp2033Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000167931]|Familial adenomatous polyposis 1 [RCV003534411]|Hereditary cancer-predisposing syndrome [RCV000491513]|not provided [RCV000159563] Chr5:112841693 [GRCh38]
Chr5:112177390 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6124T>C (p.Cys2042Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743597]|Hereditary cancer-predisposing syndrome [RCV000159564]|not provided [RCV000211924] Chr5:112841718 [GRCh38]
Chr5:112177415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6662T>C (p.Met2221Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516414]|Familial adenomatous polyposis 1 [RCV003534412]|Hereditary cancer-predisposing syndrome [RCV000159565]|not provided [RCV000766445]|not specified [RCV000211928] Chr5:112842256 [GRCh38]
Chr5:112177953 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6670A>G (p.Ile2224Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534413]|Hereditary cancer-predisposing syndrome [RCV000575448]|not provided [RCV000159566]|not specified [RCV002265632] Chr5:112842264 [GRCh38]
Chr5:112177961 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6694C>G (p.His2232Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204441]|Familial adenomatous polyposis 1 [RCV003650407]|Hereditary cancer-predisposing syndrome [RCV000216441]|not provided [RCV000656749] Chr5:112842288 [GRCh38]
Chr5:112177985 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409928]|Familial adenomatous polyposis 1 [RCV003315949]|Hereditary cancer-predisposing syndrome [RCV000219951]|not provided [RCV000159568]|not specified [RCV001192797] Chr5:112842768 [GRCh38]
Chr5:112178465 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7214A>G (p.Asn2405Ser) single nucleotide variant not provided [RCV000159569] Chr5:112842808 [GRCh38]
Chr5:112178505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7255A>G (p.Met2419Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516416]|Hereditary cancer-predisposing syndrome [RCV001186725]|not provided [RCV000159570] Chr5:112842849 [GRCh38]
Chr5:112178546 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7264A>G (p.Thr2422Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516417]|Hereditary cancer-predisposing syndrome [RCV000573375]|not provided [RCV000590001]|not specified [RCV000159571] Chr5:112842858 [GRCh38]
Chr5:112178555 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7273A>G (p.Ser2425Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743598]|Hereditary cancer-predisposing syndrome [RCV001186726]|not provided [RCV000159572] Chr5:112842867 [GRCh38]
Chr5:112178564 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7298A>G (p.Glu2433Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534414]|Hereditary cancer-predisposing syndrome [RCV000565380]|not provided [RCV000159573] Chr5:112842892 [GRCh38]
Chr5:112178589 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7528A>G (p.Asn2510Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765005]|not provided [RCV000159574] Chr5:112843122 [GRCh38]
Chr5:112178819 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7583T>C (p.Ile2528Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462065]|Familial adenomatous polyposis 1 [RCV003743599]|Hereditary cancer-predisposing syndrome [RCV000581384]|not provided [RCV000159575] Chr5:112843177 [GRCh38]
Chr5:112178874 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7588C>T (p.Arg2530Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516419]|Familial adenomatous polyposis 1 [RCV003534415]|Hereditary cancer-predisposing syndrome [RCV000159576]|not provided [RCV000656751]|not specified [RCV000211935] Chr5:112843182 [GRCh38]
Chr5:112178879 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7596T>G (p.His2532Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650408]|Hereditary cancer-predisposing syndrome [RCV002390386]|not provided [RCV000159577] Chr5:112843190 [GRCh38]
Chr5:112178887 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7797A>C (p.Lys2599Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743600]|Hereditary cancer-predisposing syndrome [RCV000159578]|not provided [RCV000211936] Chr5:112843391 [GRCh38]
Chr5:112179088 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7877C>T (p.Thr2626Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515105]|Familial adenomatous polyposis 1 [RCV003534416]|Hereditary cancer-predisposing syndrome [RCV000583290]|not provided [RCV000159579]|not specified [RCV003230419] Chr5:112843471 [GRCh38]
Chr5:112179168 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7892C>T (p.Ser2631Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650409]|Hereditary cancer-predisposing syndrome [RCV000572794]|not provided [RCV000159580] Chr5:112843486 [GRCh38]
Chr5:112179183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) single nucleotide variant APC-Associated Polyposis Disorders [RCV000322812]|Familial adenomatous polyposis 1 [RCV000525703]|Hereditary cancer-predisposing syndrome [RCV000575937]|not provided [RCV000159581]|not specified [RCV002307415] Chr5:112843701 [GRCh38]
Chr5:112179398 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.136-15T>A single nucleotide variant not provided [RCV000159584] Chr5:112766311 [GRCh38]
Chr5:112102008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.288T>A (p.Tyr96Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515106]|Familial adenomatous polyposis 1 [RCV003743601]|Familial multiple polyposis syndrome [RCV003323417]|Hereditary cancer-predisposing syndrome [RCV001016886]|not provided [RCV000159585] Chr5:112767256 [GRCh38]
Chr5:112102953 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.296G>A (p.Arg99Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000197478]|Familial adenomatous polyposis 1 [RCV003315950]|Hereditary cancer-predisposing syndrome [RCV000491566]|not provided [RCV000585993] Chr5:112767264 [GRCh38]
Chr5:112102961 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.423-1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002516422]|Familial adenomatous polyposis 1 [RCV003534417]|Hereditary cancer-predisposing syndrome [RCV002326915]|not provided [RCV000202202] Chr5:112775628 [GRCh38]
Chr5:112111325 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3473_3474insGA (p.Pro1159fs) insertion not provided [RCV000159589] Chr5:112839067..112839068 [GRCh38]
Chr5:112174764..112174765 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs) deletion Colorectal cancer [RCV001262202]|Familial adenomatous polyposis 1 [RCV000234000]|Familial adenomatous polyposis 1 [RCV003534418]|Hereditary cancer-predisposing syndrome [RCV000159590]|not provided [RCV000497264] Chr5:112841082..112841085 [GRCh38]
Chr5:112176779..112176782 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.5936_5939delACAA (p.Asn1979Thrfs) deletion Hereditary cancer-predisposing syndrome [RCV000159592] Chr5:112841530..112841533 [GRCh38]
Chr5:112177227..112177230 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5:c.423-17insT insertion Hereditary cancer-predisposing syndrome [RCV000159525] Chr5:5q22.2 benign
NM_000038.5:c.5844_5845delTGAAAAGinsGGAAAA insertion Hereditary cancer-predisposing syndrome [RCV000159591] Chr5:5q22.2 pathogenic
NM_000038.6(APC):c.6136G>A (p.Ala2046Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000411350]|Familial adenomatous polyposis 1 [RCV002228719]|Hereditary cancer-predisposing syndrome [RCV000164449]|not provided [RCV000759436] Chr5:112841730 [GRCh38]
Chr5:112177427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5151_5152insATT (p.Lys1717_Ala1718insIle) insertion Hereditary cancer-predisposing syndrome [RCV000164452] Chr5:112840745..112840746 [GRCh38]
Chr5:112176442..112176443 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2946G>A (p.Ser982=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534441]|Hereditary cancer-predisposing syndrome [RCV000164453]|not provided [RCV000679053]|not specified [RCV000607633] Chr5:112838540 [GRCh38]
Chr5:112174237 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000206414]|Familial adenomatous polyposis 1 [RCV003316023]|Hereditary cancer-predisposing syndrome [RCV000164466]|not provided [RCV000483817]|not specified [RCV000779706] Chr5:112841433 [GRCh38]
Chr5:112177130 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.835-3T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000409101]|Familial adenomatous polyposis 1 [RCV003650417]|Hereditary cancer-predisposing syndrome [RCV000164509]|not provided [RCV001729422]|not specified [RCV000432869] Chr5:112815492 [GRCh38]
Chr5:112151189 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.181G>A (p.Ala61Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743612]|Hereditary cancer-predisposing syndrome [RCV000164557]|not provided [RCV001697165] Chr5:112766371 [GRCh38]
Chr5:112102068 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2948T>C (p.Ile983Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000466750]|Familial adenomatous polyposis 1 [RCV003534442]|Hereditary cancer-predisposing syndrome [RCV000164561] Chr5:112838542 [GRCh38]
Chr5:112174239 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1121G>A (p.Arg374Gln) single nucleotide variant Carcinoma of colon [RCV001353563]|Familial adenomatous polyposis 1 [RCV000544500]|Familial adenomatous polyposis 1 [RCV003534443]|Familial multiple polyposis syndrome [RCV000239027]|Hereditary cancer-predisposing syndrome [RCV000164563]|not provided [RCV002478503] Chr5:112819153 [GRCh38]
Chr5:112154850 [GRCh37]
Chr5:5q22.2		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6700C>T (p.Pro2234Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002291578]|Familial adenomatous polyposis 1 [RCV003534444]|Hereditary cancer-predisposing syndrome [RCV000164610]|not provided [RCV001566421]|not specified [RCV001193537] Chr5:112842294 [GRCh38]
Chr5:112177991 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5236A>G (p.Ile1746Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228728]|Hereditary cancer-predisposing syndrome [RCV000164711] Chr5:112840830 [GRCh38]
Chr5:112176527 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8405C>T (p.Pro2802Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650418]|Hereditary cancer-predisposing syndrome [RCV000164781] Chr5:112843999 [GRCh38]
Chr5:112179696 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.79C>T (p.Leu27=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002053969]|Hereditary cancer-predisposing syndrome [RCV000164787] Chr5:112754969 [GRCh38]
Chr5:112090666 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2110G>A (p.Val704Ile) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155352]|Familial adenomatous polyposis 1 [RCV000198244]|Familial adenomatous polyposis 1 [RCV003316030]|Hereditary cancer-predisposing syndrome [RCV000164801]|not provided [RCV000657054]|not specified [RCV000236550] Chr5:112837704 [GRCh38]
Chr5:112173401 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.794G>A (p.Gly265Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534456]|Hereditary cancer-predisposing syndrome [RCV000166786] Chr5:112801343 [GRCh38]
Chr5:112137040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7444C>G (p.Pro2482Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765043]|Hereditary cancer-predisposing syndrome [RCV000166881] Chr5:112843038 [GRCh38]
Chr5:112178735 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3563C>T (p.Pro1188Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765044]|Hereditary cancer-predisposing syndrome [RCV000166891] Chr5:112839157 [GRCh38]
Chr5:112174854 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5759G>A (p.Arg1920Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743613]|Hereditary cancer-predisposing syndrome [RCV000164870]|not specified [RCV000780843] Chr5:112841353 [GRCh38]
Chr5:112177050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7929A>G (p.Leu2643=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155674]|Familial adenomatous polyposis 1 [RCV000230717]|Familial adenomatous polyposis 1 [RCV003743614]|Hereditary cancer-predisposing syndrome [RCV000164877]|not provided [RCV000858816]|not specified [RCV000441754] Chr5:112843523 [GRCh38]
Chr5:112179220 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.8247_8248delinsTA (p.Glu2750Lys) indel Familial adenomatous polyposis 1 [RCV003650419]|Hereditary cancer-predisposing syndrome [RCV000164932] Chr5:112843841..112843842 [GRCh38]
Chr5:112179538..112179539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.166G>C (p.Glu56Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534457]|Hereditary cancer-predisposing syndrome [RCV000166941] Chr5:112766356 [GRCh38]
Chr5:112102053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6232C>G (p.Leu2078Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166999] Chr5:112841826 [GRCh38]
Chr5:112177523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) single nucleotide variant APC-related condition [RCV003975238]|Carcinoma of colon [RCV001358361]|Colorectal cancer [RCV000677738]|Familial adenomatous polyposis 1 [RCV003323298]|Familial adenomatous polyposis 1 [RCV003743616]|Hereditary cancer-predisposing syndrome [RCV000167000]|not provided [RCV002260627]|not specified [RCV000455669] Chr5:112841506 [GRCh38]
Chr5:112177203 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7269A>G (p.Lys2423=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534458]|Hereditary cancer-predisposing syndrome [RCV000167012]|not specified [RCV000419525] Chr5:112842863 [GRCh38]
Chr5:112178560 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4824_4827delinsTAC (p.Lys1608fs) indel Familial adenomatous polyposis 1 [RCV003650420]|Hereditary cancer-predisposing syndrome [RCV000165005] Chr5:112840418..112840421 [GRCh38]
Chr5:112176115..112176118 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5816A>T (p.Asp1939Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000463148]|Familial adenomatous polyposis 1 [RCV003316034]|Familial adenomatous polyposis 1 [RCV003650421]|Hereditary cancer-predisposing syndrome [RCV000165007]|not provided [RCV000484552] Chr5:112841410 [GRCh38]
Chr5:112177107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1295A>G (p.Asp432Gly) single nucleotide variant APC-related condition [RCV003398838]|Familial adenomatous polyposis 1 [RCV003765025]|Hereditary cancer-predisposing syndrome [RCV000165015] Chr5:112819327 [GRCh38]
Chr5:112155024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1500T>C (p.Tyr500=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534445]|Hereditary cancer-predisposing syndrome [RCV000165019] Chr5:112827199 [GRCh38]
Chr5:112162896 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.759C>G (p.Gly253=) single nucleotide variant APC-related condition [RCV003965208]|Familial adenomatous polyposis 1 [RCV003316035]|Hereditary cancer-predisposing syndrome [RCV000165035]|not provided [RCV002281064] Chr5:112801308 [GRCh38]
Chr5:112137005 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.18T>C (p.Tyr6=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515148]|Hereditary cancer-predisposing syndrome [RCV000165043] Chr5:112754908 [GRCh38]
Chr5:112090605 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.332G>A (p.Ser111Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV000233865]|Familial adenomatous polyposis 1 [RCV003316036]|Hereditary cancer-predisposing syndrome [RCV000165072]|not provided [RCV001582652] Chr5:112767300 [GRCh38]
Chr5:112102997 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4463T>C (p.Leu1488Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650422]|Hereditary cancer-predisposing syndrome [RCV000165075]|not provided [RCV003317119] Chr5:112840057 [GRCh38]
Chr5:112175754 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7098T>C (p.Tyr2366=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765026]|Hereditary cancer-predisposing syndrome [RCV000165080]|not specified [RCV000609264] Chr5:112842692 [GRCh38]
Chr5:112178389 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1197A>G (p.Arg399=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165087] Chr5:112819229 [GRCh38]
Chr5:112154926 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2148A>G (p.Lys716=) single nucleotide variant APC-related condition [RCV003907519]|Familial adenomatous polyposis 1 [RCV003765027]|Hereditary cancer-predisposing syndrome [RCV000165101]|not specified [RCV001192978] Chr5:112837742 [GRCh38]
Chr5:112173439 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3486_3487del (p.Tyr1162_Ser1163delinsTer) microsatellite Familial adenomatous polyposis 1 [RCV003337239]|Hereditary cancer-predisposing syndrome [RCV000165111] Chr5:112839078..112839079 [GRCh38]
Chr5:112174775..112174776 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.645+2T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165115] Chr5:112780905 [GRCh38]
Chr5:112116602 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.537C>A (p.Ser179=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765045]|Hereditary cancer-predisposing syndrome [RCV000167064]|not specified [RCV000587471] Chr5:112780795 [GRCh38]
Chr5:112116492 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8282C>G (p.Pro2761Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743617]|Hereditary cancer-predisposing syndrome [RCV000167096] Chr5:112843876 [GRCh38]
Chr5:112179573 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2483C>T (p.Thr828Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410146]|Familial adenomatous polyposis 1 [RCV003534459]|Hereditary cancer-predisposing syndrome [RCV000167114]|not provided [RCV000985291]|not specified [RCV001420829] Chr5:112838077 [GRCh38]
Chr5:112173774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1378G>A (p.Glu460Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650434]|Hereditary cancer-predisposing syndrome [RCV000167142] Chr5:112821961 [GRCh38]
Chr5:112157658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6942G>A (p.Gln2314=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650435]|Hereditary cancer-predisposing syndrome [RCV000167149] Chr5:112842536 [GRCh38]
Chr5:112178233 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1426G>A (p.Ala476Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650436]|Hereditary cancer-predisposing syndrome [RCV000167150] Chr5:112827125 [GRCh38]
Chr5:112162822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3535T>C (p.Tyr1179His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000203705]|Familial adenomatous polyposis 1 [RCV003316059]|Familial adenomatous polyposis 1 [RCV003743618]|Hereditary cancer-predisposing syndrome [RCV000167162]|not provided [RCV000235383]|not specified [RCV001731416] Chr5:112839129 [GRCh38]
Chr5:112174826 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3510A>G (p.Lys1170=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650437]|Hereditary cancer-predisposing syndrome [RCV000167182]|not provided [RCV003477636] Chr5:112839104 [GRCh38]
Chr5:112174801 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5485A>T (p.Asn1829Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515174]|Hereditary cancer-predisposing syndrome [RCV000167191]|not provided [RCV000481452] Chr5:112841079 [GRCh38]
Chr5:112176776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2465T>C (p.Leu822Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534446]|Hereditary cancer-predisposing syndrome [RCV000165211]|not provided [RCV002460942] Chr5:112838059 [GRCh38]
Chr5:112173756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2739T>C (p.His913=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650423]|Hereditary cancer-predisposing syndrome [RCV000165216]|not provided [RCV000755821]|not specified [RCV000421189] Chr5:112838333 [GRCh38]
Chr5:112174030 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1695A>G (p.Glu565=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000259790]|Familial adenomatous polyposis 1 [RCV002516439]|Familial adenomatous polyposis 1 [RCV003650411]|Hereditary cancer-predisposing syndrome [RCV000162514]|not provided [RCV001711321]|not specified [RCV000202246] Chr5:112828924 [GRCh38]
Chr5:112164621 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3732A>G (p.Gln1244=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000260692]|Familial adenomatous polyposis 1 [RCV002516440]|Familial adenomatous polyposis 1 [RCV003650412]|Hereditary cancer-predisposing syndrome [RCV000162515]|not provided [RCV001711429]|not specified [RCV000500807] Chr5:112839326 [GRCh38]
Chr5:112175023 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.1686G>A (p.Thr562=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000411909]|Hereditary cancer-predisposing syndrome [RCV000162562]|not provided [RCV000679048]|not specified [RCV000418223] Chr5:112828915 [GRCh38]
Chr5:112164612 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7629G>A (p.Arg2543=) single nucleotide variant APC-related condition [RCV003895084]|Familial adenomatous polyposis 1 [RCV003765011]|Hereditary cancer-predisposing syndrome [RCV000162611]|not provided [RCV001704156] Chr5:112843223 [GRCh38]
Chr5:112178920 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.288T>C (p.Tyr96=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765028]|Hereditary cancer-predisposing syndrome [RCV000165334]|not provided [RCV001704202]|not specified [RCV000427257] Chr5:112767256 [GRCh38]
Chr5:112102953 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5715A>G (p.Gln1905=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765030]|Hereditary cancer-predisposing syndrome [RCV000165369]|not specified [RCV000444858] Chr5:112841309 [GRCh38]
Chr5:112177006 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3258C>T (p.His1086=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765012]|Hereditary cancer-predisposing syndrome [RCV000162657]|not provided [RCV001284354] Chr5:112838852 [GRCh38]
Chr5:112174549 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6219T>G (p.Gly2073=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650413]|Hereditary cancer-predisposing syndrome [RCV000162658]|not provided [RCV001721024]|not specified [RCV000426636] Chr5:112841813 [GRCh38]
Chr5:112177510 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer) deletion Familial adenomatous polyposis 1 [RCV002515125]|Familial adenomatous polyposis 1 [RCV003335150]|Hereditary cancer-predisposing syndrome [RCV000162703]|not provided [RCV000480296] Chr5:112840262..112840263 [GRCh38]
Chr5:112175959..112175960 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3555A>G (p.Thr1185=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000199036]|Familial adenomatous polyposis 1 [RCV003315981]|Hereditary cancer-predisposing syndrome [RCV000162722]|not provided [RCV000679055]|not specified [RCV000425194] Chr5:112839149 [GRCh38]
Chr5:112174846 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5805G>A (p.Gln1935=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204420]|Familial adenomatous polyposis 1 [RCV003743602]|Hereditary cancer-predisposing syndrome [RCV000162739]|not provided [RCV000679071]|not specified [RCV000425495] Chr5:112841399 [GRCh38]
Chr5:112177096 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5757del (p.Arg1920fs) deletion Familial adenomatous polyposis 1 [RCV002516443]|Familial adenomatous polyposis 1 [RCV003534419]|Hereditary cancer-predisposing syndrome [RCV000162741] Chr5:112841351 [GRCh38]
Chr5:112177048 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5571A>C (p.Ser1857=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228553]|Hereditary cancer-predisposing syndrome [RCV000162751]|not provided [RCV000586455]|not specified [RCV000420472] Chr5:112841165 [GRCh38]
Chr5:112176862 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3342A>G (p.Arg1114=) single nucleotide variant Endometrial carcinoma [RCV001355301]|Familial adenomatous polyposis 1 [RCV003743603]|Hereditary cancer-predisposing syndrome [RCV000162762]|not specified [RCV000614189] Chr5:112838936 [GRCh38]
Chr5:112174633 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.154C>A (p.Gln52Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743615]|Hereditary cancer-predisposing syndrome [RCV000165466] Chr5:112766344 [GRCh38]
Chr5:112102041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7039A>G (p.Arg2347Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV001293970]|Hereditary cancer-predisposing syndrome [RCV000165561] Chr5:112842633 [GRCh38]
Chr5:112178330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6028A>G (p.Lys2010Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516484]|Hereditary cancer-predisposing syndrome [RCV000165565] Chr5:112841622 [GRCh38]
Chr5:112177319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337240]|Familial multiple polyposis syndrome [RCV000500049]|Gastric adenocarcinoma and proximal polyposis of the stomach [RCV003137694]|Hereditary cancer-predisposing syndrome [RCV000165582]|not provided [RCV000202153] Chr5:112838399 [GRCh38]
Chr5:112174096 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2205G>A (p.Ala735=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155353]|Carcinoma of colon [RCV001353912]|Familial adenomatous polyposis 1 [RCV000199939]|Familial adenomatous polyposis 1 [RCV003743604]|Hereditary cancer-predisposing syndrome [RCV000162793]|not provided [RCV000587002]|not specified [RCV000429527] Chr5:112837799 [GRCh38]
Chr5:112173496 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1557A>G (p.Leu519=) single nucleotide variant Familial adenomatous polyposis 1 [RCV001085817]|Familial adenomatous polyposis 1 [RCV003534420]|Hereditary cancer-predisposing syndrome [RCV000162809]|not provided [RCV000679047] Chr5:112827937 [GRCh38]
Chr5:112163634 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.756C>T (p.Thr252=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534421]|Hereditary cancer-predisposing syndrome [RCV000162810]|not provided [RCV000759444]|not specified [RCV002267898] Chr5:112801305 [GRCh38]
Chr5:112137002 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4614A>G (p.Glu1538=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162944] Chr5:112840208 [GRCh38]
Chr5:112175905 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2838A>G (p.Thr946=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409166]|Familial adenomatous polyposis 1 [RCV003743605]|Hereditary cancer-predisposing syndrome [RCV000163050]|not provided [RCV000859696]|not specified [RCV000429824] Chr5:112838432 [GRCh38]
Chr5:112174129 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.6387G>A (p.Ser2129=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000293113]|Familial adenomatous polyposis 1 [RCV002228558]|Familial adenomatous polyposis 1 [RCV003765013]|Hereditary cancer-predisposing syndrome [RCV000163062]|Malignant tumor of breast [RCV001355704]|not provided [RCV000589653]|not specified [RCV000508036] Chr5:112841981 [GRCh38]
Chr5:112177678 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.564A>G (p.Gln188=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000469275]|Familial adenomatous polyposis 1 [RCV003650414]|Hereditary cancer-predisposing syndrome [RCV000163065]|not specified [RCV000428165] Chr5:112780822 [GRCh38]
Chr5:112116519 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3909A>G (p.Gln1303=) single nucleotide variant APC-related condition [RCV003945263]|Familial adenomatous polyposis 1 [RCV000409994]|Familial adenomatous polyposis 1 [RCV003315988]|Hereditary cancer-predisposing syndrome [RCV000163132]|not provided [RCV003477585]|not specified [RCV000607365] Chr5:112839503 [GRCh38]
Chr5:112175200 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3807_3808del (p.Ile1269fs) microsatellite Familial adenomatous polyposis 1 [RCV003335169]|Familial adenomatous polyposis 1 [RCV003743619]|Hereditary cancer-predisposing syndrome [RCV000167206]|not provided [RCV000202002] Chr5:112839399..112839400 [GRCh38]
Chr5:112175096..112175097 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7130A>G (p.Asn2377Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650438]|Hereditary cancer-predisposing syndrome [RCV000167228] Chr5:112842724 [GRCh38]
Chr5:112178421 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3653C>T (p.Thr1218Met) single nucleotide variant APC-Associated Polyposis Disorders [RCV001154641]|Familial adenomatous polyposis 1 [RCV000233583]|Familial adenomatous polyposis 1 [RCV003316062]|Familial adenomatous polyposis 1 [RCV003650439]|Hereditary cancer-predisposing syndrome [RCV000167240]|not provided [RCV000483908]|not specified [RCV001553558] Chr5:112839247 [GRCh38]
Chr5:112174944 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7610C>G (p.Ser2537Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765035]|Hereditary cancer-predisposing syndrome [RCV000165650] Chr5:112843204 [GRCh38]
Chr5:112178901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3910A>G (p.Ile1304Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000689521]|Familial adenomatous polyposis 1 [RCV003534447]|Hereditary cancer-predisposing syndrome [RCV000165668] Chr5:112839504 [GRCh38]
Chr5:112175201 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4424C>T (p.Ala1475Val) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210169]|Familial adenomatous polyposis 1 [RCV002516489]|Hereditary cancer-predisposing syndrome [RCV000165744]|not provided [RCV000985303]|not specified [RCV000607446] Chr5:112840018 [GRCh38]
Chr5:112175715 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6358G>T (p.Ala2120Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534422]|Hereditary cancer-predisposing syndrome [RCV000163168] Chr5:112841952 [GRCh38]
Chr5:112177649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6510A>C (p.Pro2170=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000465026]|Familial adenomatous polyposis 1 [RCV003534423]|Hereditary cancer-predisposing syndrome [RCV000163191]|not provided [RCV000590440]|not specified [RCV000443490] Chr5:112842104 [GRCh38]
Chr5:112177801 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.2232T>G (p.Ser744=) single nucleotide variant APC-related condition [RCV003917561]|Familial adenomatous polyposis 1 [RCV000462393]|Hereditary cancer-predisposing syndrome [RCV000163199]|not provided [RCV000590422]|not specified [RCV000439758] Chr5:112837826 [GRCh38]
Chr5:112173523 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.7878T>G (p.Thr2626=) single nucleotide variant APC-related condition [RCV003895099]|Familial adenomatous polyposis 1 [RCV000233129]|Familial adenomatous polyposis 1 [RCV003315991]|Hereditary cancer-predisposing syndrome [RCV000163203]|not provided [RCV000759446]|not specified [RCV000614044] Chr5:112843472 [GRCh38]
Chr5:112179169 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4434G>A (p.Arg1478=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163222] Chr5:112840028 [GRCh38]
Chr5:112175725 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1722A>G (p.Glu574=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000317916]|Familial adenomatous polyposis 1 [RCV002515127]|Hereditary cancer-predisposing syndrome [RCV000163224]|not specified [RCV000421864] Chr5:112828951 [GRCh38]
Chr5:112164648 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2631T>A (p.Gly877=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534424]|Hereditary cancer-predisposing syndrome [RCV000163245]|not provided [RCV000228768] Chr5:112838225 [GRCh38]
Chr5:112173922 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003335152]|Hereditary cancer-predisposing syndrome [RCV000163246]|not provided [RCV000480238] Chr5:112767187 [GRCh38]
Chr5:112102884 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) single nucleotide variant Carcinoma of colon [RCV001353588]|Familial adenomatous polyposis 1 [RCV000232978]|Familial adenomatous polyposis 1 [RCV003315992]|Hereditary cancer-predisposing syndrome [RCV000163274]|not provided [RCV000656748]|not specified [RCV000236184] Chr5:112841711 [GRCh38]
Chr5:112177408 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8100T>C (p.Asn2700=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000260617]|Familial adenomatous polyposis 1 [RCV000205888]|Familial adenomatous polyposis 1 [RCV003315993]|Hereditary cancer-predisposing syndrome [RCV000163313]|not specified [RCV000602636] Chr5:112843694 [GRCh38]
Chr5:112179391 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.3677A>G (p.Lys1226Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534460]|Hereditary cancer-predisposing syndrome [RCV000167264] Chr5:112839271 [GRCh38]
Chr5:112174968 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5907G>C (p.Leu1969=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765046]|Hereditary cancer-predisposing syndrome [RCV000167281]|not provided [RCV001534934]|not specified [RCV003317122] Chr5:112841501 [GRCh38]
Chr5:112177198 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5608G>A (p.Asp1870Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765047]|Hereditary cancer-predisposing syndrome [RCV000167355] Chr5:112841202 [GRCh38]
Chr5:112176899 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515179]|Familial adenomatous polyposis 1 [RCV003335171]|Hereditary cancer-predisposing syndrome [RCV000167356]|not provided [RCV000237046] Chr5:112842303 [GRCh38]
Chr5:112178000 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6431T>C (p.Leu2144Pro) single nucleotide variant Endometrial carcinoma [RCV001357203]|Familial adenomatous polyposis 1 [RCV003650440]|Hereditary cancer-predisposing syndrome [RCV000167377] Chr5:112842025 [GRCh38]
Chr5:112177722 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7077A>G (p.Ser2359=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534448]|Hereditary cancer-predisposing syndrome [RCV000165759] Chr5:112842671 [GRCh38]
Chr5:112178368 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3166A>G (p.Ile1056Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650424]|Hereditary cancer-predisposing syndrome [RCV000165837] Chr5:112838760 [GRCh38]
Chr5:112174457 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.460G>A (p.Glu154Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708951]|Familial adenomatous polyposis 1 [RCV003650425]|Hereditary cancer-predisposing syndrome [RCV000165838]|not provided [RCV000479967] Chr5:112775666 [GRCh38]
Chr5:112111363 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4334C>T (p.Thr1445Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409886]|Hereditary cancer-predisposing syndrome [RCV000165845]|not provided [RCV003477621]|not specified [RCV003320584] Chr5:112839928 [GRCh38]
Chr5:112175625 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5105G>A (p.Gly1702Glu) single nucleotide variant Desmoid disease, hereditary [RCV000764565]|Familial adenomatous polyposis 1 [RCV000231340]|Familial adenomatous polyposis 1 [RCV003153439]|Hereditary cancer-predisposing syndrome [RCV000163348]|not provided [RCV000758732]|not specified [RCV002267901] Chr5:112840699 [GRCh38]
Chr5:112176396 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3963C>T (p.Ser1321=) single nucleotide variant APC-related condition [RCV003965193]|Familial adenomatous polyposis 1 [RCV003534425]|Hereditary cancer-predisposing syndrome [RCV000163353]|not provided [RCV000759428]|not specified [RCV000441140] Chr5:112839557 [GRCh38]
Chr5:112175254 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.6945A>G (p.Gln2315=) single nucleotide variant APC-related condition [RCV003907504]|Familial adenomatous polyposis 1 [RCV000410447]|Familial adenomatous polyposis 1 [RCV003743606]|Hereditary cancer-predisposing syndrome [RCV000163446]|not provided [RCV001721044] Chr5:112842539 [GRCh38]
Chr5:112178236 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.6844T>C (p.Leu2282=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163458] Chr5:112842438 [GRCh38]
Chr5:112178135 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4005C>T (p.Ser1335=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000197563]|Hereditary cancer-predisposing syndrome [RCV000163464]|not provided [RCV000679059] Chr5:112839599 [GRCh38]
Chr5:112175296 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3123A>G (p.Gln1041=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515129]|Hereditary cancer-predisposing syndrome [RCV000163468]|not specified [RCV000428905] Chr5:112838717 [GRCh38]
Chr5:112174414 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8043G>C (p.Pro2681=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000371701]|Familial adenomatous polyposis 1 [RCV002516450]|Familial adenomatous polyposis 1 [RCV003534426]|Hereditary cancer-predisposing syndrome [RCV000163472]|not provided [RCV000590536] Chr5:112843637 [GRCh38]
Chr5:112179334 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.5790A>G (p.Gln1930=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000328659]|Familial adenomatous polyposis 1 [RCV002515130]|Familial adenomatous polyposis 1 [RCV003534427]|Hereditary cancer-predisposing syndrome [RCV000163473]|not provided [RCV000586171]|not specified [RCV000444405] Chr5:112841384 [GRCh38]
Chr5:112177081 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.6560G>T (p.Gly2187Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167411] Chr5:112842154 [GRCh38]
Chr5:112177851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7558G>A (p.Gly2520Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000196779]|Familial adenomatous polyposis 1 [RCV002515181]|Hereditary cancer-predisposing syndrome [RCV000167413]|not provided [RCV001571602] Chr5:112843152 [GRCh38]
Chr5:112178849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3125G>C (p.Ser1042Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515183]|Familial adenomatous polyposis 1 [RCV003743620]|Hereditary cancer-predisposing syndrome [RCV000167432]|not specified [RCV000780844] Chr5:112838719 [GRCh38]
Chr5:112174416 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6090T>C (p.Leu2030=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534461]|Hereditary cancer-predisposing syndrome [RCV000167461] Chr5:112841684 [GRCh38]
Chr5:112177381 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.995G>A (p.Arg332Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000200721]|Familial adenomatous polyposis 1 [RCV003316064]|Hereditary cancer-predisposing syndrome [RCV000167510]|not provided [RCV000480823] Chr5:112819027 [GRCh38]
Chr5:112154724 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1331A>G (p.His444Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650426]|Hereditary cancer-predisposing syndrome [RCV000165915] Chr5:112821914 [GRCh38]
Chr5:112157611 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000228193]|Familial adenomatous polyposis 1 [RCV003534449]|Hereditary cancer-predisposing syndrome [RCV000165965]|not provided [RCV000236023] Chr5:112844023 [GRCh38]
Chr5:112179720 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6828A>G (p.Pro2276=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534450]|Hereditary cancer-predisposing syndrome [RCV000165972]|not specified [RCV000611572] Chr5:112842422 [GRCh38]
Chr5:112178119 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.993G>A (p.Ser331=) single nucleotide variant APC-related condition [RCV003947428]|Familial adenomatous polyposis 1 [RCV000411887]|Familial adenomatous polyposis 1 [RCV003650427]|Hereditary cancer-predisposing syndrome [RCV000166005]|Malignant tumor of breast [RCV001358579]|not provided [RCV001704209]|not specified [RCV000433397] Chr5:112819025 [GRCh38]
Chr5:112154722 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5257G>T (p.Ala1753Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650428]|Hereditary cancer-predisposing syndrome [RCV000166028] Chr5:112840851 [GRCh38]
Chr5:112176548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5441A>G (p.Gln1814Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166041] Chr5:112841035 [GRCh38]
Chr5:112176732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4200G>C (p.Ser1400=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534428]|Hereditary cancer-predisposing syndrome [RCV000163555]|not provided [RCV001555066] Chr5:112839794 [GRCh38]
Chr5:112175491 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.789T>A (p.Gly263=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000459412]|Familial adenomatous polyposis 1 [RCV003534429]|Hereditary cancer-predisposing syndrome [RCV000163561]|not provided [RCV000589682]|not specified [RCV000443758] Chr5:112801338 [GRCh38]
Chr5:112137035 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8208T>G (p.Thr2736=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765014]|Hereditary cancer-predisposing syndrome [RCV000163598]|not provided [RCV001762361] Chr5:112843802 [GRCh38]
Chr5:112179499 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8235T>A (p.Pro2745=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163661] Chr5:112843829 [GRCh38]
Chr5:112179526 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7281T>C (p.Ser2427=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515131]|Hereditary cancer-predisposing syndrome [RCV000163668]|not provided [RCV001589028] Chr5:112842875 [GRCh38]
Chr5:112178572 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6257C>G (p.Pro2086Arg) single nucleotide variant Desmoid disease, hereditary [RCV000515279]|Familial adenomatous polyposis 1 [RCV000205730]|Hereditary cancer-predisposing syndrome [RCV000166066] Chr5:112841851 [GRCh38]
Chr5:112177548 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.6684G>A (p.Arg2228=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228758]|Hereditary cancer-predisposing syndrome [RCV000166095]|not provided [RCV000459466] Chr5:112842278 [GRCh38]
Chr5:112177975 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2971G>T (p.Glu991Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003454411]|Hereditary cancer-predisposing syndrome [RCV000166096] Chr5:112838565 [GRCh38]
Chr5:112174262 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1982G>A (p.Cys661Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534451]|Hereditary cancer-predisposing syndrome [RCV000166140] Chr5:112837576 [GRCh38]
Chr5:112173273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3471_3474del (p.Glu1157fs) microsatellite Familial adenomatous polyposis 1 [RCV000226886]|Familial adenomatous polyposis 1 [RCV003337241]|Hereditary cancer-predisposing syndrome [RCV000166142] Chr5:112839062..112839065 [GRCh38]
Chr5:112174759..112174762 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6126_6141del (p.Ile2043fs) deletion Familial adenomatous polyposis 1 [RCV003337242]|Hereditary cancer-predisposing syndrome [RCV000166146] Chr5:112841716..112841731 [GRCh38]
Chr5:112177413..112177428 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7986G>A (p.Glu2662=) single nucleotide variant APC-related condition [RCV003937493]|Familial adenomatous polyposis 1 [RCV000234782]|Familial adenomatous polyposis 1 [RCV003743607]|Hereditary cancer-predisposing syndrome [RCV000163688]|not provided [RCV001354670]|not specified [RCV000779708] Chr5:112843580 [GRCh38]
Chr5:112179277 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.5685C>G (p.Thr1895=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765015]|Hereditary cancer-predisposing syndrome [RCV000163696] Chr5:112841279 [GRCh38]
Chr5:112176976 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8367C>T (p.Ser2789=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743608]|Hereditary cancer-predisposing syndrome [RCV000163713] Chr5:112843961 [GRCh38]
Chr5:112179658 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro) single nucleotide variant APC-related condition [RCV003398835]|Familial adenomatous polyposis 1 [RCV000234737]|Familial adenomatous polyposis 1 [RCV003316005]|Familial adenomatous polyposis 1 [RCV003743609]|Hereditary cancer-predisposing syndrome [RCV000163734]|not provided [RCV001310857]|not specified [RCV000779738] Chr5:112842996 [GRCh38]
Chr5:112178693 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7290T>C (p.Asp2430=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743610]|Hereditary cancer-predisposing syndrome [RCV000163759] Chr5:112842884 [GRCh38]
Chr5:112178581 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6474C>G (p.Pro2158=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765039]|Hereditary cancer-predisposing syndrome [RCV000166235] Chr5:112842068 [GRCh38]
Chr5:112177765 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155477]|Familial adenomatous polyposis 1 [RCV003765040]|Hereditary cancer-predisposing syndrome [RCV000166273]|not provided [RCV001704215]|not specified [RCV000236286] Chr5:112840128 [GRCh38]
Chr5:112175825 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1908T>C (p.Gly636=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650429]|Hereditary cancer-predisposing syndrome [RCV000166275] Chr5:112835115 [GRCh38]
Chr5:112170812 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-3C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000412218]|Familial adenomatous polyposis 1 [RCV003316051]|Hereditary cancer-predisposing syndrome [RCV000166294]|not provided [RCV000588450] Chr5:112801276 [GRCh38]
Chr5:112136973 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.60C>T (p.Asn20=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650430]|Hereditary cancer-predisposing syndrome [RCV000166303]|not provided [RCV001697159]|not specified [RCV001844061] Chr5:112754950 [GRCh38]
Chr5:112090647 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2043T>C (p.Cys681=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765041]|Hereditary cancer-predisposing syndrome [RCV000166312] Chr5:112837637 [GRCh38]
Chr5:112173334 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5271T>C (p.Ser1757=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000196119]|Familial adenomatous polyposis 1 [RCV003316007]|Hereditary cancer-predisposing syndrome [RCV000163806]|not provided [RCV003326363]|not specified [RCV000253153] Chr5:112840865 [GRCh38]
Chr5:112176562 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.8010A>G (p.Arg2670=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534430]|Hereditary cancer-predisposing syndrome [RCV000163812]|not provided [RCV001704179]|not specified [RCV000445319] Chr5:112843604 [GRCh38]
Chr5:112179301 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr) single nucleotide variant APC-related condition [RCV003937499]|Familial adenomatous polyposis 1 [RCV003534431]|Hereditary cancer-predisposing syndrome [RCV000163815]|not provided [RCV000589358]|not specified [RCV000235835] Chr5:112839333 [GRCh38]
Chr5:112175030 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.2222A>G (p.Asn741Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000197204]|Familial adenomatous polyposis 1 [RCV003534432]|Hereditary cancer-predisposing syndrome [RCV000163857]|not provided [RCV000236573]|not specified [RCV001193496] Chr5:112837816 [GRCh38]
Chr5:112173513 [GRCh37]
Chr5:5q22.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.393T>C (p.Thr131=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743611]|Hereditary cancer-predisposing syndrome [RCV000163863] Chr5:112767361 [GRCh38]
Chr5:112103058 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4260C>A (p.Pro1420=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650415]|Hereditary cancer-predisposing syndrome [RCV000163864]|not specified [RCV000505866] Chr5:112839854 [GRCh38]
Chr5:112175551 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000205541]|Familial adenomatous polyposis 1 [RCV003316011]|Hereditary cancer-predisposing syndrome [RCV000163875]|not provided [RCV003233477]|not specified [RCV000589784] Chr5:112840810 [GRCh38]
Chr5:112176507 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.669A>C (p.Gln223His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000411931]|Familial adenomatous polyposis 1 [RCV002228581]|Hereditary cancer-predisposing syndrome [RCV000163884]|not provided [RCV003126560]|not specified [RCV001358755] Chr5:112792469 [GRCh38]
Chr5:112128166 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7578T>C (p.His2526=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534433]|Hereditary cancer-predisposing syndrome [RCV000163889] Chr5:112843172 [GRCh38]
Chr5:112178869 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5268T>A (p.Ser1756=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151700]|APC-related condition [RCV003947430]|Familial adenomatous polyposis 1 [RCV003534452]|Hereditary cancer-predisposing syndrome [RCV000166360]|not provided [RCV000758733]|not specified [RCV000424383] Chr5:112840862 [GRCh38]
Chr5:112176559 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7531C>T (p.Leu2511Phe) single nucleotide variant Desmoid disease, hereditary [RCV002478515]|Familial adenomatous polyposis 1 [RCV000473143]|Hereditary cancer-predisposing syndrome [RCV000166364]|not provided [RCV000482783] Chr5:112843125 [GRCh38]
Chr5:112178822 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4416A>T (p.Val1472=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000412160]|Familial adenomatous polyposis 1 [RCV003316052]|Hereditary cancer-predisposing syndrome [RCV000166366]|not provided [RCV001706086]|not specified [RCV000588465] Chr5:112840010 [GRCh38]
Chr5:112175707 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.979A>G (p.Lys327Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166400] Chr5:112819011 [GRCh38]
Chr5:112154708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7396T>C (p.Ser2466Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409704]|Familial adenomatous polyposis 1 [RCV002228768]|Hereditary cancer-predisposing syndrome [RCV000166459] Chr5:112842990 [GRCh38]
Chr5:112178687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2645C>T (p.Thr882Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515162]|Familial adenomatous polyposis 1 [RCV003650431]|Hereditary cancer-predisposing syndrome [RCV000166468]|not provided [RCV001775651] Chr5:112838239 [GRCh38]
Chr5:112173936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6757C>G (p.Leu2253Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166480] Chr5:112842351 [GRCh38]
Chr5:112178048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7821C>T (p.Ser2607=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000310973]|Familial adenomatous polyposis 1 [RCV000198453]|Familial adenomatous polyposis 1 [RCV003534434]|Hereditary cancer-predisposing syndrome [RCV000163955]|not provided [RCV000589014]|not specified [RCV000430616] Chr5:112843415 [GRCh38]
Chr5:112179112 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.5250C>T (p.Val1750=) single nucleotide variant APC-related condition [RCV003954966]|Familial adenomatous polyposis 1 [RCV000200153]|Familial adenomatous polyposis 1 [RCV003534435]|Hereditary cancer-predisposing syndrome [RCV000163958]|not provided [RCV000859105]|not specified [RCV001174930] Chr5:112840844 [GRCh38]
Chr5:112176541 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign
NM_000038.6(APC):c.7032A>G (p.Gln2344=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650416]|Hereditary cancer-predisposing syndrome [RCV000163961] Chr5:112842626 [GRCh38]
Chr5:112178323 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign|uncertain significance
NM_000038.6(APC):c.822T>C (p.Ser274=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517611]|Hereditary cancer-predisposing syndrome [RCV000163995]|not provided [RCV000826931] Chr5:112801371 [GRCh38]
Chr5:112137068 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.70C>T (p.Arg24Ter) single nucleotide variant Carcinoma of colon [RCV001353710]|Desmoid disease, hereditary [RCV000763534]|Familial adenomatous polyposis 1 [RCV000227124]|Familial adenomatous polyposis 1 [RCV003534436]|Familial multiple polyposis syndrome [RCV000844605]|Gastric cancer [RCV003162685]|Hereditary cancer-predisposing syndrome [RCV000164002]|not provided [RCV000482864]|not specified [RCV000508297] Chr5:112754960 [GRCh38]
Chr5:112090657 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.7472T>C (p.Met2491Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000226252]|Hereditary cancer-predisposing syndrome [RCV000164068]|not provided [RCV000590327] Chr5:112843066 [GRCh38]
Chr5:112178763 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7574G>A (p.Arg2525His) single nucleotide variant APC-related condition [RCV003937504]|Familial adenomatous polyposis 1 [RCV000226636]|Familial adenomatous polyposis 1 [RCV003534437]|Hereditary cancer-predisposing syndrome [RCV000164075]|not provided [RCV000483633]|not specified [RCV001582644] Chr5:112843168 [GRCh38]
Chr5:112178865 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8434A>G (p.Asn2812Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650432]|Hereditary cancer-predisposing syndrome [RCV000166548]|not provided [RCV001800501] Chr5:112844028 [GRCh38]
Chr5:112179725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8250G>A (p.Glu2750=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228771]|Hereditary cancer-predisposing syndrome [RCV000166552] Chr5:112843844 [GRCh38]
Chr5:112179541 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6063C>T (p.Phe2021=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534453]|Hereditary cancer-predisposing syndrome [RCV000166610] Chr5:112841657 [GRCh38]
Chr5:112177354 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4311A>G (p.Lys1437=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000457831]|Familial adenomatous polyposis 1 [RCV002228969]|Hereditary cancer-predisposing syndrome [RCV000166619]|not provided [RCV001704223] Chr5:112839905 [GRCh38]
Chr5:112175602 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7178G>A (p.Arg2393Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765018]|Hereditary cancer-predisposing syndrome [RCV000164149] Chr5:112842772 [GRCh38]
Chr5:112178469 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5603A>G (p.Asp1868Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534438]|Hereditary cancer-predisposing syndrome [RCV000164161]|not provided [RCV003114311] Chr5:112841197 [GRCh38]
Chr5:112176894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4800A>T (p.Lys1600Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV001850291]|Hereditary cancer-predisposing syndrome [RCV000164244]|not provided [RCV001753555] Chr5:112840394 [GRCh38]
Chr5:112176091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6680G>T (p.Gly2227Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000228117]|Familial adenomatous polyposis 1 [RCV003534454]|Hereditary cancer-predisposing syndrome [RCV000166644] Chr5:112842274 [GRCh38]
Chr5:112177971 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.372A>G (p.Val124=) single nucleotide variant APC-related condition [RCV003895156]|Familial adenomatous polyposis 1 [RCV003534455]|Hereditary cancer-predisposing syndrome [RCV000166670]|not provided [RCV001800502]|not specified [RCV000608108] Chr5:112767340 [GRCh38]
Chr5:112103037 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6811_6813del (p.Pro2271del) deletion Familial adenomatous polyposis 1 [RCV002515165]|Familial adenomatous polyposis 1 [RCV003650433]|Hereditary cancer-predisposing syndrome [RCV000166674]|not provided [RCV000485036] Chr5:112842403..112842405 [GRCh38]
Chr5:112178100..112178102 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2500T>C (p.Ser834Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515166]|Hereditary cancer-predisposing syndrome [RCV000166700] Chr5:112838094 [GRCh38]
Chr5:112173791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.117T>C (p.Thr39=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166721] Chr5:112755007 [GRCh38]
Chr5:112090704 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1293G>A (p.Met431Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164267]|not provided [RCV001357599] Chr5:112819325 [GRCh38]
Chr5:112155022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4621C>T (p.Gln1541Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335155]|Hereditary cancer-predisposing syndrome [RCV000164276] Chr5:112840215 [GRCh38]
Chr5:112175912 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.994C>T (p.Arg332Ter) single nucleotide variant Desmoid disease, hereditary [RCV002498813]|Familial adenomatous polyposis 1 [RCV000460182]|Familial adenomatous polyposis 1 [RCV002228714]|Familial multiple polyposis syndrome [RCV000503333]|Hereditary cancer-predisposing syndrome [RCV000164280]|not provided [RCV000202243] Chr5:112819026 [GRCh38]
Chr5:112154723 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4160G>A (p.Cys1387Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534439]|Hereditary cancer-predisposing syndrome [RCV000164323] Chr5:112839754 [GRCh38]
Chr5:112175451 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5178A>G (p.Glu1726=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765020]|Hereditary cancer-predisposing syndrome [RCV000164325]|not provided [RCV000679063] Chr5:112840772 [GRCh38]
Chr5:112176469 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1031G>C (p.Cys344Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517614]|Hereditary cancer-predisposing syndrome [RCV000164333] Chr5:112819063 [GRCh38]
Chr5:112154760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.847C>T (p.Arg283Ter) single nucleotide variant Carcinoma of colon [RCV001353622]|Colorectal cancer [RCV001789763]|Desmoid disease, hereditary [RCV000763538]|Familial adenomatous polyposis 1 [RCV002517615]|Familial adenomatous polyposis 1 [RCV003337238]|Familial multiple polyposis syndrome [RCV000501350]|Hereditary cancer-predisposing syndrome [RCV000164351]|not provided [RCV000202113] Chr5:112815507 [GRCh38]
Chr5:112151204 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6446A>C (p.His2149Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000545398]|Familial adenomatous polyposis 1 [RCV003534440]|Hereditary cancer-predisposing syndrome [RCV000164369]|not provided [RCV000679080]|not specified [RCV000236978] Chr5:112842040 [GRCh38]
Chr5:112177737 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4640A>G (p.Glu1547Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516463]|Hereditary cancer-predisposing syndrome [RCV000164377] Chr5:112840234 [GRCh38]
Chr5:112175931 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+5G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535678]|Hereditary cancer-predisposing syndrome [RCV002379096]|not provided [RCV000254697] Chr5:112819349 [GRCh38]
Chr5:112155046 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs) indel Familial adenomatous polyposis 1 [RCV003335296]|Hereditary cancer-predisposing syndrome [RCV001023055]|not provided [RCV000254735] Chr5:112840387..112840394 [GRCh38]
Chr5:112176084..112176091 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.136-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002518766]|not provided [RCV000254746] Chr5:112766324 [GRCh38]
Chr5:112102021 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1548+3_1548+4del deletion not provided [RCV000254937] Chr5:112827249..112827250 [GRCh38]
Chr5:112162946..112162947 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.573T>A (p.Tyr191Ter) single nucleotide variant not provided [RCV000255000] Chr5:112780831 [GRCh38]
Chr5:112116528 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4741del (p.Ser1581fs) deletion Familial adenomatous polyposis 1 [RCV002288951]|not provided [RCV000255014] Chr5:112840333 [GRCh38]
Chr5:112176030 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.7931_7937del (p.Ile2644fs) deletion Hereditary cancer-predisposing syndrome [RCV001026970]|not provided [RCV000255082] Chr5:112843524..112843530 [GRCh38]
Chr5:112179221..112179227 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7143_7146del (p.Thr2382fs) microsatellite Familial adenomatous polyposis 1 [RCV003337269]|Hereditary cancer-predisposing syndrome [RCV001026088]|not provided [RCV000255086] Chr5:112842731..112842734 [GRCh38]
Chr5:112178428..112178431 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1958+3A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003535679]|Hereditary cancer-predisposing syndrome [RCV002418096]|not provided [RCV000255192] Chr5:112835168 [GRCh38]
Chr5:112170865 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6196A>G (p.Arg2066Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000167881]|Familial adenomatous polyposis 1 [RCV002228998]|Hereditary cancer-predisposing syndrome [RCV001523902]|not provided [RCV001850371]|not specified [RCV000483290] Chr5:112841790 [GRCh38]
Chr5:112177487 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650441]|Hereditary cancer-predisposing syndrome [RCV000565123]|not provided [RCV001589045]|not specified [RCV000508130] Chr5:112840359 [GRCh38]
Chr5:112176056 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5762G>T (p.Gly1921Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168001]|Hereditary cancer-predisposing syndrome [RCV003352789] Chr5:112841356 [GRCh38]
Chr5:112177053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.925G>T (p.Gly309Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168066] Chr5:112815585 [GRCh38]
Chr5:112151282 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168076]|Familial adenomatous polyposis 1 [RCV003316065]|Hereditary cancer-predisposing syndrome [RCV000491288]|not provided [RCV000657134]|not specified [RCV000486411] Chr5:112842787 [GRCh38]
Chr5:112178484 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5213A>C (p.His1738Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765049]|Hereditary cancer-predisposing syndrome [RCV001182080] Chr5:112840807 [GRCh38]
Chr5:112176504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168091]|Familial adenomatous polyposis 1 [RCV002229002]|Hereditary cancer-predisposing syndrome [RCV000571060]|not provided [RCV000766666]|not specified [RCV000235919] Chr5:112841024 [GRCh38]
Chr5:112176721 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2716T>G (p.Ser906Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168132] Chr5:112838310 [GRCh38]
Chr5:112174007 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2534G>A (p.Arg845His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168139]|Familial adenomatous polyposis 1 [RCV003316066]|Hereditary cancer-predisposing syndrome [RCV000569311]|not provided [RCV000485635] Chr5:112838128 [GRCh38]
Chr5:112173825 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5692A>G (p.Thr1898Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765050] Chr5:112841286 [GRCh38]
Chr5:112176983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2240C>T (p.Ser747Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002291585]|Hereditary cancer-predisposing syndrome [RCV000218100]|not provided [RCV000484713] Chr5:112837834 [GRCh38]
Chr5:112173531 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2834_2835delinsTT (p.Arg945Ile) indel Familial adenomatous polyposis 1 [RCV002291586]|Hereditary cancer-predisposing syndrome [RCV000215714]|not provided [RCV002292479] Chr5:112838428..112838429 [GRCh38]
Chr5:112174125..112174126 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3830T>G (p.Leu1277Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650442] Chr5:112839424 [GRCh38]
Chr5:112175121 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4175C>A (p.Ser1392Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168194] Chr5:112839769 [GRCh38]
Chr5:112175466 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6966G>C (p.Gln2322His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168195]|Familial adenomatous polyposis 1 [RCV003650443]|Hereditary cancer-predisposing syndrome [RCV000571854]|not provided [RCV003126562]|not specified [RCV001269133] Chr5:112842560 [GRCh38]
Chr5:112178257 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1262G>A (p.Trp421Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000168200]|Familial adenomatous polyposis 1 [RCV001850378]|Hereditary cancer-predisposing syndrome [RCV002444673] Chr5:112819294 [GRCh38]
Chr5:112154991 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1588G>A (p.Val530Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765051]|Hereditary cancer-predisposing syndrome [RCV001175689] Chr5:112827968 [GRCh38]
Chr5:112163665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.647G>A (p.Arg216Gln) single nucleotide variant APC-Associated Polyposis Disorders [RCV000364207]|Familial adenomatous polyposis 1 [RCV000168256]|Familial adenomatous polyposis 1 [RCV003534462]|Hereditary cancer [RCV003491922]|Hereditary cancer-predisposing syndrome [RCV000563625]|not provided [RCV000480784]|not specified [RCV003987392] Chr5:112792447 [GRCh38]
Chr5:112128144 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5573G>A (p.Arg1858Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462261]|Hereditary cancer-predisposing syndrome [RCV000491863]|not provided [RCV001357936] Chr5:112841167 [GRCh38]
Chr5:112176864 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3314G>A (p.Arg1105Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650444]|Hereditary cancer-predisposing syndrome [RCV000567203]|not provided [RCV000998412] Chr5:112838908 [GRCh38]
Chr5:112174605 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.170A>T (p.Asp57Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000232299]|Familial adenomatous polyposis 1 [RCV003534464]|Familial cancer of breast [RCV000184048]|Hereditary cancer-predisposing syndrome [RCV002399685] Chr5:112766360 [GRCh38]
Chr5:112102057 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.5207A>G (p.Lys1736Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765282]|Hereditary cancer-predisposing syndrome [RCV002345715] Chr5:112840801 [GRCh38]
Chr5:112176498 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.870T>C (p.Ser290=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765269]|Hereditary cancer-predisposing syndrome [RCV000583940]|not specified [RCV000612743] Chr5:112815530 [GRCh38]
Chr5:112151227 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.3180_3184delAAAAC (p.Gln1062Terfs) deletion Familial adenomatous polyposis 1 [RCV000195615] Chr5:112838774..112838778 [GRCh38]
Chr5:112174471..112174475 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2650G>A (p.Ala884Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000195646]|Familial adenomatous polyposis 1 [RCV003765275]|Hereditary cancer-predisposing syndrome [RCV003584562]|not provided [RCV001753600] Chr5:112838244 [GRCh38]
Chr5:112173941 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.792A>G (p.Gln264=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515453]|Hereditary cancer-predisposing syndrome [RCV001180007] Chr5:112801341 [GRCh38]
Chr5:112137038 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3299C>T (p.Ser1100Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000195761]|Familial adenomatous polyposis 1 [RCV003650451]|Hereditary cancer-predisposing syndrome [RCV000574827]|not provided [RCV000235272]|not specified [RCV001264460] Chr5:112838893 [GRCh38]
Chr5:112174590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) single nucleotide variant Carcinoma of colon [RCV001354708]|Familial adenomatous polyposis 1 [RCV003534465]|Hereditary cancer-predisposing syndrome [RCV000491700]|not provided [RCV001800523]|not specified [RCV000423289] Chr5:112839380 [GRCh38]
Chr5:112175077 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.4761A>C (p.Ser1587=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229108]|Hereditary cancer-predisposing syndrome [RCV000775331] Chr5:112840355 [GRCh38]
Chr5:112176052 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign
NM_000038.6(APC):c.1886dup (p.Leu629fs) duplication Familial adenomatous polyposis 1 [RCV000195881]|Hereditary cancer-predisposing syndrome [RCV000493455] Chr5:112835090..112835091 [GRCh38]
Chr5:112170787..112170788 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys) single nucleotide variant Desmoid disease, hereditary [RCV002478702]|Familial adenomatous polyposis 1 [RCV003765280]|Hereditary cancer-predisposing syndrome [RCV000568323]|not specified [RCV002247624] Chr5:112840581 [GRCh38]
Chr5:112176278 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.309A>G (p.Val103=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765264]|Hereditary cancer-predisposing syndrome [RCV001018605]|not provided [RCV003477651] Chr5:112767277 [GRCh38]
Chr5:112102974 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign|uncertain significance
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000196029]|Familial adenomatous polyposis 1 [RCV003534472]|Hereditary cancer-predisposing syndrome [RCV000564610]|not specified [RCV000780867] Chr5:112843807 [GRCh38]
Chr5:112179504 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1393G>T (p.Ala465Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV001853215] Chr5:112821976 [GRCh38]
Chr5:112157673 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.8321G>C (p.Ser2774Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000196149]|Hereditary cancer-predisposing syndrome [RCV000582316]|not provided [RCV003221856]|not specified [RCV001175460] Chr5:112843915 [GRCh38]
Chr5:112179612 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1242C>T (p.Arg414=) single nucleotide variant Desmoid disease, hereditary [RCV002500619]|Familial adenomatous polyposis 1 [RCV003148671]|Hereditary cancer-predisposing syndrome [RCV000579779]|not provided [RCV001705141]|not specified [RCV000441007] Chr5:112819274 [GRCh38]
Chr5:112154971 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.1627-10T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003765273]|not specified [RCV000581292] Chr5:112828846 [GRCh38]
Chr5:112164543 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) single nucleotide variant Desmoid disease, hereditary [RCV000765792]|Familial adenomatous polyposis 1 [RCV000196318]|Familial adenomatous polyposis 1 [RCV002228917]|Hereditary cancer-predisposing syndrome [RCV000567493]|not provided [RCV000478701]|not specified [RCV000779724] Chr5:112844056 [GRCh38]
Chr5:112179753 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6071A>G (p.Asn2024Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000196363]|not provided [RCV000236544] Chr5:112841665 [GRCh38]
Chr5:112177362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4980A>G (p.Leu1660=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765266]|Hereditary cancer-predisposing syndrome [RCV000775333] Chr5:112840574 [GRCh38]
Chr5:112176271 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6751C>T (p.Pro2251Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000196518] Chr5:112842345 [GRCh38]
Chr5:112178042 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534468]|Hereditary cancer-predisposing syndrome [RCV000491194]|not provided [RCV000236811]|not specified [RCV001553560] Chr5:112839030 [GRCh38]
Chr5:112174727 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7137C>G (p.Thr2379=) single nucleotide variant APC-related condition [RCV003967526]|Familial adenomatous polyposis 1 [RCV003743623]|Hereditary cancer-predisposing syndrome [RCV000576148]|not provided [RCV000835178]|not specified [RCV000779728] Chr5:112842731 [GRCh38]
Chr5:112178428 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7324A>G (p.Thr2442Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765283]|Hereditary cancer-predisposing syndrome [RCV002381684] Chr5:112842918 [GRCh38]
Chr5:112178615 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2277C>T (p.Ala759=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743624]|Hereditary cancer-predisposing syndrome [RCV000218306]|not provided [RCV001570271] Chr5:112837871 [GRCh38]
Chr5:112173568 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7843A>G (p.Ile2615Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000196896]|Hereditary cancer-predisposing syndrome [RCV000574010] Chr5:112843437 [GRCh38]
Chr5:112179134 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2860T>C (p.Leu954=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228892]|Hereditary cancer-predisposing syndrome [RCV000566184]|not specified [RCV000589111] Chr5:112838454 [GRCh38]
Chr5:112174151 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4715T>C (p.Ile1572Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003468898]|Hereditary cancer-predisposing syndrome [RCV000569887]|not provided [RCV000487173] Chr5:112840309 [GRCh38]
Chr5:112176006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.209A>G (p.Glu70Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765274] Chr5:112766399 [GRCh38]
Chr5:112102096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7194C>T (p.Ser2398=) single nucleotide variant APC-related condition [RCV003955201]|Familial adenomatous polyposis 1 [RCV003765268]|Hereditary cancer-predisposing syndrome [RCV001026135]|not provided [RCV000758741]|not specified [RCV000604328] Chr5:112842788 [GRCh38]
Chr5:112178485 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8325G>A (p.Gly2775=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000197236]|Familial adenomatous polyposis 1 [RCV003316102]|Familial adenomatous polyposis 1 [RCV003650448]|Hereditary cancer-predisposing syndrome [RCV000563201]|not provided [RCV000759450]|not specified [RCV000501084] Chr5:112843919 [GRCh38]
Chr5:112179616 [GRCh37]
Chr5:5q22.2		 pathogenic|benign|likely benign
NM_000038.6(APC):c.6085_6093dup (p.2026_2028SLS[3]) duplication Familial adenomatous polyposis 1 [RCV003474964]|Hereditary cancer-predisposing syndrome [RCV003165478] Chr5:112841675..112841676 [GRCh38]
Chr5:112177372..112177373 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2613A>C (p.Gly871=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765261]|Hereditary cancer-predisposing syndrome [RCV000570142]|not provided [RCV001284347]|not specified [RCV001175068] Chr5:112838207 [GRCh38]
Chr5:112173904 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155356]|Familial adenomatous polyposis 1 [RCV000197360]|Hereditary cancer-predisposing syndrome [RCV000563002]|not provided [RCV000493690]|not specified [RCV001192829] Chr5:112838038 [GRCh38]
Chr5:112173735 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000038.6(APC):c.6203T>C (p.Met2068Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650453]|Hereditary cancer-predisposing syndrome [RCV000771585]|not provided [RCV000237050]|not specified [RCV001193533] Chr5:112841797 [GRCh38]
Chr5:112177494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3341G>A (p.Arg1114Gln) single nucleotide variant APC-Associated Polyposis Disorders [RCV000310913]|Familial adenomatous polyposis 1 [RCV003650452]|Hereditary cancer-predisposing syndrome [RCV000574225] Chr5:112838935 [GRCh38]
Chr5:112174632 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.5(APC):c.792del (p.Gly265Glufs) deletion Familial adenomatous polyposis 1 [RCV000197702] Chr5:112801340 [GRCh38]
Chr5:112137037 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7979G>A (p.Arg2660Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765285]|Hereditary cancer-predisposing syndrome [RCV000223161]|not provided [RCV000236247] Chr5:112843573 [GRCh38]
Chr5:112179270 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.3921_3924del (p.Ile1307fs) deletion Familial adenomatous polyposis 1 [RCV003335192]|Familial adenomatous polyposis 1 [RCV003650449]|Hereditary cancer-predisposing syndrome [RCV002372182]|not provided [RCV003477664] Chr5:112839515..112839518 [GRCh38]
Chr5:112175212..112175215 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.573T>C (p.Tyr191=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000309947]|APC-related condition [RCV003947643]|Desmoid disease, hereditary [RCV002478697]|Familial adenomatous polyposis 1 [RCV003650446]|Hereditary cancer-predisposing syndrome [RCV000573062]|not provided [RCV001701788]|not specified [RCV000426052] Chr5:112780831 [GRCh38]
Chr5:112116528 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.1111G>C (p.Gly371Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000197838]|Hereditary cancer-predisposing syndrome [RCV000568392] Chr5:112819143 [GRCh38]
Chr5:112154840 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.477C>T (p.Tyr159=) single nucleotide variant APC-related condition [RCV003947647]|Familial adenomatous polyposis 1 [RCV000198065]|Familial adenomatous polyposis 1 [RCV003316101]|Hereditary cancer-predisposing syndrome [RCV000564772]|not specified [RCV000438858] Chr5:112775683 [GRCh38]
Chr5:112111380 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.943G>T (p.Val315Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765287] Chr5:112818975 [GRCh38]
Chr5:112154672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+9C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003148672]|not specified [RCV000419768] Chr5:112780912 [GRCh38]
Chr5:112116609 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.228C>T (p.Asn76=) single nucleotide variant APC-related condition [RCV003895261]|Familial adenomatous polyposis 1 [RCV000198292]|Familial adenomatous polyposis 1 [RCV003316100]|Hereditary cancer-predisposing syndrome [RCV000571232]|not provided [RCV001705142]|not specified [RCV001824678] Chr5:112767196 [GRCh38]
Chr5:112102893 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.1072C>T (p.Gln358Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337243]|Hereditary cancer-predisposing syndrome [RCV000775125] Chr5:112819104 [GRCh38]
Chr5:112154801 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4989A>G (p.Glu1663=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765267]|Hereditary cancer-predisposing syndrome [RCV001023369] Chr5:112840583 [GRCh38]
Chr5:112176280 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2763A>G (p.Ala921=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765262]|Hereditary cancer-predisposing syndrome [RCV000219215]|not specified [RCV002267928] Chr5:112838357 [GRCh38]
Chr5:112174054 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1440A>T (p.Gln480His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765272]|Hereditary cancer-predisposing syndrome [RCV001011595]|not specified [RCV000780851] Chr5:112827139 [GRCh38]
Chr5:112162836 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000198718]|Familial adenomatous polyposis 1 [RCV003534469]|Hereditary cancer-predisposing syndrome [RCV000446409]|not provided [RCV000766728]|not specified [RCV000236990] Chr5:112839989 [GRCh38]
Chr5:112175686 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4928G>A (p.Cys1643Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765279]|Hereditary cancer-predisposing syndrome [RCV002336540]|not provided [RCV003223618] Chr5:112840522 [GRCh38]
Chr5:112176219 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) single nucleotide variant Desmoid disease, hereditary [RCV002500621]|Familial adenomatous polyposis 1 [RCV002515464]|Familial adenomatous polyposis 1 [RCV003534471]|Hereditary cancer-predisposing syndrome [RCV000572076]|not provided [RCV000766698]|not specified [RCV000202229] Chr5:112843611 [GRCh38]
Chr5:112179308 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5420A>G (p.Asp1807Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000199146] Chr5:112841014 [GRCh38]
Chr5:112176711 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2919T>C (p.Tyr973=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765263]|Hereditary cancer-predisposing syndrome [RCV000574086] Chr5:112838513 [GRCh38]
Chr5:112174210 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7657A>C (p.Lys2553Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002291592]|Hereditary cancer-predisposing syndrome [RCV001185305]|not provided [RCV002269262] Chr5:112843251 [GRCh38]
Chr5:112178948 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423G>T (p.Arg141Ser) single nucleotide variant Carcinoma of colon [RCV000501209]|Familial adenomatous polyposis 1 [RCV000199388]|Familial adenomatous polyposis 1 [RCV001853212]|not provided [RCV001270008] Chr5:112775629 [GRCh38]
Chr5:112111326 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7404A>G (p.Ser2468=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650447]|Hereditary cancer-predisposing syndrome [RCV000567109]|not provided [RCV001582692] Chr5:112842998 [GRCh38]
Chr5:112178695 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7852A>G (p.Asn2618Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765284]|Hereditary cancer-predisposing syndrome [RCV000775352] Chr5:112843446 [GRCh38]
Chr5:112179143 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4965A>C (p.Thr1655=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765265]|Hereditary cancer-predisposing syndrome [RCV001023336] Chr5:112840559 [GRCh38]
Chr5:112176256 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1114A>G (p.Asn372Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534466]|Hereditary cancer-predisposing syndrome [RCV000581511]|not provided [RCV002469059] Chr5:112819146 [GRCh38]
Chr5:112154843 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8275C>T (p.Arg2759Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000199753]|Familial adenomatous polyposis 1 [RCV003534473]|Hereditary cancer-predisposing syndrome [RCV000213652] Chr5:112843869 [GRCh38]
Chr5:112179566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) single nucleotide variant Desmoid disease, hereditary [RCV000764561]|Familial adenomatous polyposis 1 [RCV000199835]|Familial adenomatous polyposis 1 [RCV003534467]|Hereditary cancer-predisposing syndrome [RCV000217491]|not provided [RCV000656746]|not specified [RCV000235744] Chr5:112827986 [GRCh38]
Chr5:112163683 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.841A>T (p.Thr281Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765286]|Hereditary cancer-predisposing syndrome [RCV001017740] Chr5:112815501 [GRCh38]
Chr5:112151198 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.1122G>A (p.Arg374=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765260] Chr5:112819154 [GRCh38]
Chr5:112154851 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3136A>G (p.Asn1046Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765276]|Hereditary cancer-predisposing syndrome [RCV000776353]|not provided [RCV000236840] Chr5:112838730 [GRCh38]
Chr5:112174427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.338T>C (p.Val113Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765277] Chr5:112767306 [GRCh38]
Chr5:112103003 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.276C>T (p.Ser92=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517289]|Hereditary cancer-predisposing syndrome [RCV000569741]|not specified [RCV001532995] Chr5:112767244 [GRCh38]
Chr5:112102941 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign
NM_000038.6(APC):c.6959C>T (p.Pro2320Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517294]|Familial adenomatous polyposis 1 [RCV003534470]|Hereditary cancer-predisposing syndrome [RCV000217700]|not provided [RCV000486657] Chr5:112842553 [GRCh38]
Chr5:112178250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7400C>T (p.Pro2467Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000200356]|Familial adenomatous polyposis 1 [RCV002228913]|Hereditary cancer-predisposing syndrome [RCV000581883]|not provided [RCV003221855]|not specified [RCV001175459] Chr5:112842994 [GRCh38]
Chr5:112178691 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4013A>G (p.Gln1338Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462314]|Hereditary cancer-predisposing syndrome [RCV000582055]|not provided [RCV003156231] Chr5:112839607 [GRCh38]
Chr5:112175304 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.1409-?_*(1_?)del deletion Familial adenomatous polyposis 1 [RCV000200508] Chr5:112827108..112844127 [GRCh38]
Chr5:112162805..112179824 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5304G>A (p.Lys1768=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228898]|Hereditary cancer-predisposing syndrome [RCV000570509]|not provided [RCV001357058]|not specified [RCV000608378] Chr5:112840898 [GRCh38]
Chr5:112176595 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4571T>G (p.Ile1524Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765278]|Hereditary cancer-predisposing syndrome [RCV000564170] Chr5:112840165 [GRCh38]
Chr5:112175862 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2090C>T (p.Ala697Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000200684]|Familial adenomatous polyposis 1 [RCV003316109]|Hereditary cancer-predisposing syndrome [RCV000575021]|not provided [RCV000657015]|not specified [RCV000484738] Chr5:112837684 [GRCh38]
Chr5:112173381 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2196T>C (p.Asn732=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000200825]|Familial adenomatous polyposis 1 [RCV003650450]|Hereditary cancer-predisposing syndrome [RCV000582117] Chr5:112837790 [GRCh38]
Chr5:112173487 [GRCh37]
Chr5:5q22.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.453del (p.Glu152fs) deletion Carcinoma of colon [RCV001356072]|Familial adenomatous polyposis 1 [RCV002515468]|Familial adenomatous polyposis 1 [RCV003337244]|Hereditary cancer-predisposing syndrome [RCV000491770]|not provided [RCV000202272] Chr5:112775658 [GRCh38]
Chr5:112111355 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6818G>A (p.Gly2273Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000198352]|Hereditary cancer-predisposing syndrome [RCV001025686] Chr5:112842412 [GRCh38]
Chr5:112178109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) single nucleotide variant Carcinoma of colon [RCV000500904]|Familial adenomatous polyposis 1 [RCV002228900]|Familial adenomatous polyposis 1 [RCV002288811]|Hereditary cancer-predisposing syndrome [RCV000492041]|Neoplasm of the large intestine [RCV000438475]|not provided [RCV000236362]|not specified [RCV001000185] Chr5:112838220 [GRCh38]
Chr5:112173917 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5140G>C (p.Asp1714His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765281]|Hereditary cancer-predisposing syndrome [RCV000772715]|not specified [RCV003387800] Chr5:112840734 [GRCh38]
Chr5:112176431 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.3569C>A (p.Ser1190Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229727]|not provided [RCV000255278] Chr5:112839163 [GRCh38]
Chr5:112174860 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1409-6A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003335292]|not provided [RCV000255289] Chr5:112827102 [GRCh38]
Chr5:112162799 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1715T>A (p.Leu572Ter) single nucleotide variant not provided [RCV000255299] Chr5:112828944 [GRCh38]
Chr5:112164641 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4300A>T (p.Ser1434Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769965]|Hereditary cancer-predisposing syndrome [RCV001180497] Chr5:112839894 [GRCh38]
Chr5:112175591 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.423-5_423-3delAAT deletion not provided [RCV000185617] Chr5:5q22.2 uncertain significance
NM_000038.6(APC):c.423-17T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000987551]|Familial adenomatous polyposis 1 [RCV003316116]|Hereditary cancer-predisposing syndrome [RCV000582266]|not provided [RCV001640304]|not specified [RCV000202107] Chr5:112775612 [GRCh38]
Chr5:112111309 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.645+32C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003316117]|not provided [RCV001711978]|not specified [RCV000202160] Chr5:112780935 [GRCh38]
Chr5:112116632 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.835-24A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000987554]|Familial adenomatous polyposis 1 [RCV003316121]|not provided [RCV001723773]|not specified [RCV000201972] Chr5:112815471 [GRCh38]
Chr5:112151168 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.730-29A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003316120]|not provided [RCV001668366]|not specified [RCV000202193] Chr5:112801250 [GRCh38]
Chr5:112136947 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.423-3_423-2del deletion Familial adenomatous polyposis 1 [RCV002519588]|Familial adenomatous polyposis 1 [RCV003650456]|Hereditary cancer-predisposing syndrome [RCV000775120]|not provided [RCV001705159]|not specified [RCV000201990] Chr5:112775625..112775626 [GRCh38]
Chr5:112111322..112111323 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.422+75T>C single nucleotide variant not provided [RCV001541351]|not specified [RCV000202215] Chr5:112767465 [GRCh38]
Chr5:112103162 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.729+31A>G single nucleotide variant not specified [RCV000202000] Chr5:112792560 [GRCh38]
Chr5:112128257 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+27A>G single nucleotide variant not specified [RCV000202003] Chr5:112822018 [GRCh38]
Chr5:112157715 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+28A>G single nucleotide variant not specified [RCV000202048] Chr5:112766438 [GRCh38]
Chr5:112102135 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-22G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000410108]|Familial adenomatous polyposis 1 [RCV003316119]|not specified [RCV000202057] Chr5:112801257 [GRCh38]
Chr5:112136954 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.645+61C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003316118]|not specified [RCV000202301] Chr5:112780964 [GRCh38]
Chr5:112116661 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.220+124C>G single nucleotide variant not provided [RCV000835993]|not specified [RCV000202302] Chr5:112766534 [GRCh38]
Chr5:112102231 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.221-29G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003316115]|not specified [RCV000202081] Chr5:112767160 [GRCh38]
Chr5:112102857 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-93A>C single nucleotide variant not provided [RCV001558282]|not specified [RCV000202116] Chr5:112828763 [GRCh38]
Chr5:112164460 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5359A>G (p.Thr1787Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537149]|Hereditary cancer-predisposing syndrome [RCV000561244] Chr5:112840953 [GRCh38]
Chr5:112176650 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3157A>G (p.Lys1053Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742672] Chr5:112838751 [GRCh38]
Chr5:112174448 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5937CAA[1] (p.Asn1981del) microsatellite Familial adenomatous polyposis 1 [RCV003767035]|Hereditary cancer-predisposing syndrome [RCV000561415]|not provided [RCV002464256] Chr5:112841529..112841531 [GRCh38]
Chr5:112177226..112177228 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6002A>G (p.Lys2001Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562522]|Familial adenomatous polyposis 1 [RCV003650746]|Hereditary cancer-predisposing syndrome [RCV003294061] Chr5:112841596 [GRCh38]
Chr5:112177293 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3139G>T (p.Glu1047Ter) single nucleotide variant not provided [RCV000201963] Chr5:112838733 [GRCh38]
Chr5:112174430 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.541C>T (p.Gln181Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337249]|Hereditary cancer-predisposing syndrome [RCV002345721]|not provided [RCV000201966] Chr5:112780799 [GRCh38]
Chr5:112116496 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.244T>A (p.Phe82Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517322]|Hereditary cancer-predisposing syndrome [RCV002444819]|not specified [RCV000201969] Chr5:112767212 [GRCh38]
Chr5:112102909 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1609del (p.Ser537fs) deletion Familial adenomatous polyposis 1 [RCV003335201]|not provided [RCV000201973] Chr5:112827987 [GRCh38]
Chr5:112163684 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.268A>G (p.Lys90Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515485]|Hereditary cancer-predisposing syndrome [RCV000580141]|not provided [RCV001550070]|not specified [RCV000201975] Chr5:112767236 [GRCh38]
Chr5:112102933 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517338]|Familial adenomatous polyposis 1 [RCV003534487]|not provided [RCV000201984] Chr5:112843105 [GRCh38]
Chr5:112178802 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs) deletion Familial adenomatous polyposis 1 [RCV003335209]|not provided [RCV000201986] Chr5:112838896..112838899 [GRCh38]
Chr5:112174593..112174596 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3688C>T (p.Gln1230Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337246]|Hereditary cancer-predisposing syndrome [RCV000493802]|not provided [RCV000202019] Chr5:112839282 [GRCh38]
Chr5:112174979 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335215]|Hereditary cancer-predisposing syndrome [RCV002327055]|not provided [RCV000202021] Chr5:112840228 [GRCh38]
Chr5:112175925 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5996del (p.Pro1999fs) deletion Familial adenomatous polyposis 1 [RCV003337250]|Hereditary cancer-predisposing syndrome [RCV002354571]|not provided [RCV000202028] Chr5:112841589 [GRCh38]
Chr5:112177286 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1243G>A (p.Ala415Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000466853]|Familial adenomatous polyposis 1 [RCV003534474]|Hereditary cancer-predisposing syndrome [RCV000571880]|not provided [RCV000657057]|not specified [RCV000202029] Chr5:112819275 [GRCh38]
Chr5:112154972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1972_1975del (p.Glu658fs) microsatellite Familial adenomatous polyposis 1 [RCV002515483]|Hereditary cancer-predisposing syndrome [RCV001013903]|not provided [RCV000202030] Chr5:112837563..112837566 [GRCh38]
Chr5:112173260..112173263 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335213]|Familial multiple polyposis syndrome [RCV003401091]|Hereditary cancer-predisposing syndrome [RCV003380517]|not provided [RCV000202036] Chr5:112840089 [GRCh38]
Chr5:112175786 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2886del (p.Asp962fs) deletion not provided [RCV000202041] Chr5:112838480 [GRCh38]
Chr5:112174177 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs) deletion Familial adenomatous polyposis 1 [RCV002517331]|Familial adenomatous polyposis 1 [RCV003534484]|Hereditary cancer-predisposing syndrome [RCV001184959]|not provided [RCV000202051] Chr5:112840326..112840327 [GRCh38]
Chr5:112176023..112176024 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1433T>G (p.Leu478Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337245]|not provided [RCV000202053] Chr5:112827132 [GRCh38]
Chr5:112162829 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3125del (p.Ser1042fs) deletion Familial adenomatous polyposis 1 [RCV002229506]|not provided [RCV000202061] Chr5:112838719 [GRCh38]
Chr5:112174416 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.207del (p.Glu70fs) deletion not provided [RCV000202063] Chr5:112766397 [GRCh38]
Chr5:112102094 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.677del (p.Lys226fs) deletion Familial adenomatous polyposis 1 [RCV003337251]|Familial multiple polyposis syndrome [RCV000779707]|Hereditary cancer-predisposing syndrome [RCV002363021]|not provided [RCV000202065] Chr5:112792474 [GRCh38]
Chr5:112128171 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335208]|Hereditary cancer-predisposing syndrome [RCV000218609]|not provided [RCV000202067] Chr5:112838741 [GRCh38]
Chr5:112174438 [GRCh37]
Chr5:5q22.2		 pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.301G>T (p.Gly101Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517325]|Familial adenomatous polyposis 1 [RCV003534480]|Hereditary cancer-predisposing syndrome [RCV000570097]|not provided [RCV000202070] Chr5:112767269 [GRCh38]
Chr5:112102966 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5145del (p.Asp1715fs) deletion Familial adenomatous polyposis 1 [RCV002519590]|Familial adenomatous polyposis 1 [RCV003534485]|Hereditary cancer-predisposing syndrome [RCV000491031]|not provided [RCV000202072] Chr5:112840739 [GRCh38]
Chr5:112176436 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4166del (p.Ser1389fs) deletion not provided [RCV000202076] Chr5:112839760 [GRCh38]
Chr5:112175457 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.487C>T (p.Gln163Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517332]|Familial adenomatous polyposis 1 [RCV003650457]|Familial multiple polyposis syndrome [RCV000500940]|Hereditary cancer-predisposing syndrome [RCV001023190]|not provided [RCV000202083] Chr5:112775693 [GRCh38]
Chr5:112111390 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1525_1527del (p.Thr509del) deletion not provided [RCV000202084] Chr5:112827224..112827226 [GRCh38]
Chr5:112162921..112162923 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs) indel Familial adenomatous polyposis 1 [RCV003153475]|Familial adenomatous polyposis 1 [RCV003633487]|Familial multiple polyposis syndrome [RCV001192828]|not provided [RCV000202093] Chr5:112835099..112835111 [GRCh38]
Chr5:112170796..112170808 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1658G>A (p.Trp553Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003229818]|Hereditary cancer-predisposing syndrome [RCV000572094]|not provided [RCV000202102] Chr5:112828887 [GRCh38]
Chr5:112164584 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter) duplication Familial adenomatous polyposis 1 [RCV000411477]|Hereditary cancer-predisposing syndrome [RCV001021131]|not provided [RCV000202114] Chr5:112839378..112839379 [GRCh38]
Chr5:112175075..112175076 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2759del (p.Asn920fs) deletion Familial adenomatous polyposis 1 [RCV002228927]|not provided [RCV000202122] Chr5:112838351 [GRCh38]
Chr5:112174048 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1297C>T (p.Gln433Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517319]|Familial adenomatous polyposis 1 [RCV003534475]|Hereditary cancer-predisposing syndrome [RCV002381694]|not provided [RCV000202128] Chr5:112819329 [GRCh38]
Chr5:112155026 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3535dup (p.Tyr1179fs) duplication Familial adenomatous polyposis 1 [RCV003335210]|not provided [RCV000202129] Chr5:112839127..112839128 [GRCh38]
Chr5:112174824..112174825 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.800del (p.Gly267fs) deletion Familial adenomatous polyposis 1 [RCV002517339]|Familial adenomatous polyposis 1 [RCV003534488]|not provided [RCV000202132] Chr5:112801347 [GRCh38]
Chr5:112137044 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.288T>G (p.Tyr96Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517324]|Familial adenomatous polyposis 1 [RCV003743628]|Familial multiple polyposis syndrome [RCV003387803]|Hereditary cancer-predisposing syndrome [RCV000491545]|not provided [RCV000202141] Chr5:112767256 [GRCh38]
Chr5:112102953 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.95A>G (p.Asn32Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204603]|Familial adenomatous polyposis 1 [RCV003534489]|Hereditary cancer-predisposing syndrome [RCV000569857]|Neoplasm of stomach [RCV000677775]|not provided [RCV000656743]|not specified [RCV000202147] Chr5:112754985 [GRCh38]
Chr5:112090682 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter) single nucleotide variant APC-related condition [RCV003982949]|Familial adenomatous polyposis 1 [RCV003337247]|Familial multiple polyposis syndrome [RCV002298521]|Hereditary cancer-predisposing syndrome [RCV000490989]|not provided [RCV000202149] Chr5:112839404 [GRCh38]
Chr5:112175101 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3937A>G (p.Thr1313Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743629]|Hereditary cancer-predisposing syndrome [RCV001180271]|not specified [RCV000202157] Chr5:112839531 [GRCh38]
Chr5:112175228 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2183del (p.Asn728fs) deletion not provided [RCV000202162] Chr5:112837776 [GRCh38]
Chr5:112173473 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter) single nucleotide variant Atypical endometrial hyperplasia [RCV003327380]|Familial adenomatous polyposis 1 [RCV002519589]|Familial adenomatous polyposis 1 [RCV003534483]|not provided [RCV000202166] Chr5:112840239 [GRCh38]
Chr5:112175936 [GRCh37]
Chr5:5q22.2		 pathogenic|association|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.3054_3063del (p.Asp1018fs) deletion Familial adenomatous polyposis 1 [RCV003534481]|not provided [RCV000202170] Chr5:112838647..112838656 [GRCh38]
Chr5:112174344..112174353 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1997_1999delinsA (p.Leu666_Gln667delinsTer) indel Hereditary cancer-predisposing syndrome [RCV002415861]|not provided [RCV000202176] Chr5:112837591..112837593 [GRCh38]
Chr5:112173288..112173290 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.450_453del (p.Glu151fs) deletion Familial adenomatous polyposis 1 [RCV003335214]|Hereditary cancer-predisposing syndrome [RCV002327054]|not provided [RCV000202178] Chr5:112775654..112775657 [GRCh38]
Chr5:112111351..112111354 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2325del (p.Asn775fs) deletion Familial adenomatous polyposis 1 [RCV003335204]|not provided [RCV000202180] Chr5:112837919 [GRCh38]
Chr5:112173616 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4025dup (p.Leu1342fs) duplication Familial adenomatous polyposis 1 [RCV003335211]|Hereditary cancer-predisposing syndrome [RCV001021699]|not provided [RCV000202185] Chr5:112839616..112839617 [GRCh38]
Chr5:112175313..112175314 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4748_4752del (p.Met1583fs) microsatellite not provided [RCV000202190] Chr5:112840337..112840341 [GRCh38]
Chr5:112176034..112176038 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3298_3301del (p.Ser1100fs) deletion Familial adenomatous polyposis 1 [RCV003650455]|not provided [RCV000202195] Chr5:112838892..112838895 [GRCh38]
Chr5:112174589..112174592 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1045C>T (p.Gln349Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743625]|Hereditary cancer-predisposing syndrome [RCV002399752]|not provided [RCV000202206] Chr5:112819077 [GRCh38]
Chr5:112154774 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1629T>C (p.Val543=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515482]|Hereditary cancer-predisposing syndrome [RCV001175691]|not specified [RCV000202214] Chr5:112828858 [GRCh38]
Chr5:112164555 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign
NM_000038.6(APC):c.3135_3136del (p.Gln1045_Asn1046insTer) deletion not provided [RCV000202221] Chr5:112838728..112838729 [GRCh38]
Chr5:112174425..112174426 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3602C>A (p.Ser1201Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453732]|not provided [RCV000202226] Chr5:112839196 [GRCh38]
Chr5:112174893 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1310C>G (p.Pro437Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534476]|Hereditary cancer-predisposing syndrome [RCV001010895]|not specified [RCV000202227] Chr5:112819342 [GRCh38]
Chr5:112155039 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2624dup (p.Arg876fs) duplication Familial adenomatous polyposis 1 [RCV003650454]|not provided [RCV000202233] Chr5:112838215..112838216 [GRCh38]
Chr5:112173912..112173913 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5936del (p.Asn1979fs) deletion Familial adenomatous polyposis 1 [RCV002288820]|Familial adenomatous polyposis 1 [RCV002517336]|Familial adenomatous polyposis 1 [RCV003650459]|not provided [RCV000202237] Chr5:112841527 [GRCh38]
Chr5:112177224 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1229dup (p.Leu410fs) duplication Familial adenomatous polyposis 1 [RCV003335196]|Hereditary cancer-predisposing syndrome [RCV000491236]|not provided [RCV000202239] Chr5:112819257..112819258 [GRCh38]
Chr5:112154954..112154955 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2806_2813dup (p.Lys939fs) duplication Familial adenomatous polyposis 1 [RCV003335205]|not provided [RCV000202248] Chr5:112838397..112838398 [GRCh38]
Chr5:112174094..112174095 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5804dup (p.Ser1936fs) duplication Familial adenomatous polyposis 1 [RCV003335220]|Hereditary cancer-predisposing syndrome [RCV002354570]|not provided [RCV000202250] Chr5:112841397..112841398 [GRCh38]
Chr5:112177094..112177095 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.193C>A (p.Gln65Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743626]|Hereditary cancer-predisposing syndrome [RCV002408885]|not provided [RCV000587903]|not specified [RCV000202251] Chr5:112766383 [GRCh38]
Chr5:112102080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3791dup (p.Glu1265fs) duplication not provided [RCV000202254] Chr5:112839384..112839385 [GRCh38]
Chr5:112175081..112175082 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2804dup (p.Tyr935Ter) duplication Carcinoma of colon [RCV001356258]|Familial adenomatous polyposis 1 [RCV000410020]|Familial adenomatous polyposis 1 [RCV003534479]|Hereditary cancer-predisposing syndrome [RCV000490899]|not provided [RCV000202260] Chr5:112838397..112838398 [GRCh38]
Chr5:112174094..112174095 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3079dup (p.Tyr1027fs) duplication Familial adenomatous polyposis 1 [RCV003335207]|not provided [RCV000202266] Chr5:112838671..112838672 [GRCh38]
Chr5:112174368..112174369 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2060T>G (p.Leu687Arg) single nucleotide variant not specified [RCV000202269] Chr5:112837654 [GRCh38]
Chr5:112173351 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335212]|not provided [RCV000202280] Chr5:112839669 [GRCh38]
Chr5:112175366 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517329]|Familial adenomatous polyposis 1 [RCV003534482]|Hereditary cancer-predisposing syndrome [RCV000775141]|not provided [RCV000202286] Chr5:112839409 [GRCh38]
Chr5:112175106 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.475dup (p.Tyr159fs) duplication Familial adenomatous polyposis 1 [RCV003337248]|Hereditary cancer-predisposing syndrome [RCV000568959]|not provided [RCV000202290] Chr5:112775679..112775680 [GRCh38]
Chr5:112111376..112111377 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.1500T>A (p.Tyr500Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517321]|Familial adenomatous polyposis 1 [RCV003534478]|Hereditary cancer-predisposing syndrome [RCV001175690]|not provided [RCV000202292] Chr5:112827199 [GRCh38]
Chr5:112162896 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3939_3940dup (p.Arg1314fs) duplication not provided [RCV000202296] Chr5:112839532..112839533 [GRCh38]
Chr5:112175229..112175230 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4652_4655del (p.Lys1551fs) deletion Familial adenomatous polyposis 1 [RCV003335216]|Hereditary cancer-predisposing syndrome [RCV000575577]|not provided [RCV000202304] Chr5:112840243..112840246 [GRCh38]
Chr5:112175940..112175943 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.325G>A (p.Glu109Lys) single nucleotide variant not provided [RCV001284355] Chr5:112767293 [GRCh38]
Chr5:112102990 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1738A>G (p.Lys580Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650765] Chr5:112828967 [GRCh38]
Chr5:112164664 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7945C>T (p.Pro2649Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204224]|Hereditary cancer-predisposing syndrome [RCV001191612] Chr5:112843539 [GRCh38]
Chr5:112179236 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3708A>G (p.Ala1236=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743637]|Hereditary cancer-predisposing syndrome [RCV000575077] Chr5:112839302 [GRCh38]
Chr5:112174999 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.36A>G (p.Gln12=) single nucleotide variant APC-related condition [RCV003947667]|Familial adenomatous polyposis 1 [RCV002229518]|Hereditary cancer-predisposing syndrome [RCV000566559]|not specified [RCV000433481] Chr5:112754926 [GRCh38]
Chr5:112090623 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.715G>C (p.Ala239Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204305]|Familial adenomatous polyposis 1 [RCV002228948]|Hereditary cancer-predisposing syndrome [RCV000564542]|Ovarian cancer [RCV003153486] Chr5:112792515 [GRCh38]
Chr5:112128212 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5115C>G (p.Thr1705=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229529]|Hereditary cancer-predisposing syndrome [RCV002336563] Chr5:112840709 [GRCh38]
Chr5:112176406 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2642C>T (p.Ser881Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204328]|Familial adenomatous polyposis 1 [RCV003650460]|Hereditary cancer [RCV003491951]|Hereditary cancer-predisposing syndrome [RCV000565056]|not provided [RCV000478187] Chr5:112838236 [GRCh38]
Chr5:112173933 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7166G>T (p.Ser2389Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765326]|Hereditary cancer-predisposing syndrome [RCV000580609]|not provided [RCV002288827] Chr5:112842760 [GRCh38]
Chr5:112178457 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5712A>G (p.Gln1904=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001152939]|Familial adenomatous polyposis 1 [RCV003765319]|Hereditary cancer-predisposing syndrome [RCV000491966]|not specified [RCV002465562] Chr5:112841306 [GRCh38]
Chr5:112177003 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4962T>C (p.Ala1654=) single nucleotide variant APC-related condition [RCV003897454]|Familial adenomatous polyposis 1 [RCV003743634]|Hereditary cancer-predisposing syndrome [RCV001023331]|not provided [RCV000204525] Chr5:112840556 [GRCh38]
Chr5:112176253 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5240T>C (p.Met1747Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204628]|Familial adenomatous polyposis 1 [RCV003534497]|Hereditary cancer-predisposing syndrome [RCV000572746] Chr5:112840834 [GRCh38]
Chr5:112176531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2441T>G (p.Phe814Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204671] Chr5:112838035 [GRCh38]
Chr5:112173732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7089A>G (p.Lys2363=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987582]|Familial adenomatous polyposis 1 [RCV003743639]|Hereditary cancer-predisposing syndrome [RCV000565724] Chr5:112842683 [GRCh38]
Chr5:112178380 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2975G>C (p.Ser992Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204716] Chr5:112838569 [GRCh38]
Chr5:112174266 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5189C>T (p.Ser1730Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003468936]|Hereditary cancer-predisposing syndrome [RCV000216423]|not provided [RCV000236704] Chr5:112840783 [GRCh38]
Chr5:112176480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5982C>G (p.Asp1994Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515525]|Familial adenomatous polyposis 1 [RCV003650466]|Hereditary cancer-predisposing syndrome [RCV000775337] Chr5:112841576 [GRCh38]
Chr5:112177273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5752A>G (p.Ile1918Val) single nucleotide variant APC-related condition [RCV003417741]|Familial adenomatous polyposis 1 [RCV000204791]|Familial adenomatous polyposis 1 [RCV003316131]|Hereditary cancer-predisposing syndrome [RCV000574367]|not provided [RCV000481360] Chr5:112841346 [GRCh38]
Chr5:112177043 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3242G>A (p.Ser1081Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204913]|Hereditary cancer-predisposing syndrome [RCV000573936] Chr5:112838836 [GRCh38]
Chr5:112174533 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2696C>G (p.Thr899Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743635]|Hereditary cancer-predisposing syndrome [RCV001524229] Chr5:112838290 [GRCh38]
Chr5:112173987 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7339G>A (p.Ala2447Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765317]|Hereditary cancer-predisposing syndrome [RCV001190624] Chr5:112842933 [GRCh38]
Chr5:112178630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3025C>T (p.His1009Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229514]|Hereditary cancer-predisposing syndrome [RCV001018154] Chr5:112838619 [GRCh38]
Chr5:112174316 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8140C>A (p.Arg2714Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765320] Chr5:112843734 [GRCh38]
Chr5:112179431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.171T>C (p.Asp57=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517381]|Hereditary cancer-predisposing syndrome [RCV000567696]|not specified [RCV000443847] Chr5:112766361 [GRCh38]
Chr5:112102058 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.624G>A (p.Gln208=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517384] Chr5:112780882 [GRCh38]
Chr5:112116579 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2775C>G (p.Ser925Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743638]|Hereditary cancer-predisposing syndrome [RCV000566286]|not provided [RCV002274975] Chr5:112838369 [GRCh38]
Chr5:112174066 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1443G>A (p.Val481=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765328]|Hereditary cancer-predisposing syndrome [RCV000569791]|not specified [RCV000440805] Chr5:112827142 [GRCh38]
Chr5:112162839 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4018_4020dup (p.Ser1341dup) duplication Familial adenomatous polyposis 1 [RCV002515521]|Familial adenomatous polyposis 1 [RCV003650462]|Hereditary cancer-predisposing syndrome [RCV000219190]|not provided [RCV000236660] Chr5:112839610..112839611 [GRCh38]
Chr5:112175307..112175308 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7079G>T (p.Gly2360Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000205327]|Hereditary cancer-predisposing syndrome [RCV001026011]|not provided [RCV002247631] Chr5:112842673 [GRCh38]
Chr5:112178370 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.459G>A (p.Lys153=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765334]|Hereditary cancer-predisposing syndrome [RCV000570963]|not specified [RCV000614961] Chr5:112775665 [GRCh38]
Chr5:112111362 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.422+6T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003765331] Chr5:112767396 [GRCh38]
Chr5:112103093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7564C>A (p.Pro2522Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002517372]|Familial adenomatous polyposis 1 [RCV003534494]|Hereditary cancer-predisposing syndrome [RCV000216133] Chr5:112843158 [GRCh38]
Chr5:112178855 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7211T>A (p.Met2404Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765322]|Hereditary cancer-predisposing syndrome [RCV002372197]|not specified [RCV002509301] Chr5:112842805 [GRCh38]
Chr5:112178502 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6514G>A (p.Glu2172Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765325]|Hereditary cancer-predisposing syndrome [RCV000582958]|not provided [RCV001284250] Chr5:112842108 [GRCh38]
Chr5:112177805 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7026A>G (p.Leu2342=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743633]|Hereditary cancer-predisposing syndrome [RCV000584582]|not provided [RCV000679082] Chr5:112842620 [GRCh38]
Chr5:112178317 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1050T>G (p.Ser350=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650461]|Hereditary cancer-predisposing syndrome [RCV000563504]|not provided [RCV000205612]|not specified [RCV002229167] Chr5:112819082 [GRCh38]
Chr5:112154779 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3606T>C (p.Ser1202=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765316]|Hereditary cancer-predisposing syndrome [RCV001804944]|not provided [RCV001697211] Chr5:112839200 [GRCh38]
Chr5:112174897 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) single nucleotide variant APC-related condition [RCV003967554]|Familial adenomatous polyposis 1 [RCV003743632]|Hereditary cancer-predisposing syndrome [RCV000571447]|not provided [RCV000236966]|not specified [RCV001264579] Chr5:112838917 [GRCh38]
Chr5:112174614 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4134G>A (p.Gln1378=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228941]|Hereditary cancer-predisposing syndrome [RCV000580086]|not provided [RCV001545480] Chr5:112839728 [GRCh38]
Chr5:112175425 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3612A>G (p.Gln1204=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000205764]|Familial adenomatous polyposis 1 [RCV002229157]|Hereditary cancer-predisposing syndrome [RCV000219798]|not specified [RCV000779737] Chr5:112839206 [GRCh38]
Chr5:112174903 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.362G>T (p.Arg121Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650464]|Hereditary cancer-predisposing syndrome [RCV000570345] Chr5:112767330 [GRCh38]
Chr5:112103027 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7632A>G (p.Ser2544=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743630]|Hereditary cancer-predisposing syndrome [RCV000583736]|not specified [RCV000437174] Chr5:112843226 [GRCh38]
Chr5:112178923 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5282A>G (p.Asn1761Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765323]|Hereditary cancer-predisposing syndrome [RCV000575576] Chr5:112840876 [GRCh38]
Chr5:112176573 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*248A>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000400509]|Familial adenomatous polyposis 1 [RCV000205882]|Familial adenomatous polyposis 1 [RCV003743636]|Hereditary cancer-predisposing syndrome [RCV002257509]|not provided [RCV003221861] Chr5:112844374 [GRCh38]
Chr5:112180071 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.8265T>C (p.Ser2755=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765313]|Hereditary cancer-predisposing syndrome [RCV001027339] Chr5:112843859 [GRCh38]
Chr5:112179556 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8043G>A (p.Pro2681=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229519]|Hereditary cancer-predisposing syndrome [RCV000565989]|not provided [RCV001682915]|not specified [RCV003226249] Chr5:112843637 [GRCh38]
Chr5:112179334 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.582G>A (p.Arg194=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765315]|Hereditary cancer-predisposing syndrome [RCV000573330]|not specified [RCV001193498] Chr5:112780840 [GRCh38]
Chr5:112116537 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4074G>A (p.Ala1358=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534495]|Hereditary cancer-predisposing syndrome [RCV000566938]|not provided [RCV000206236] Chr5:112839668 [GRCh38]
Chr5:112175365 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3404_3405del (p.Asp1134_Tyr1135insTer) deletion Familial adenomatous polyposis 1 [RCV003335225] Chr5:112838997..112838998 [GRCh38]
Chr5:112174694..112174695 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6794A>T (p.Gln2265Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000206326]|Hereditary cancer-predisposing syndrome [RCV002363028] Chr5:112842388 [GRCh38]
Chr5:112178085 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6440C>T (p.Pro2147Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000206331]|Familial adenomatous polyposis 1 [RCV003650465]|Hereditary cancer-predisposing syndrome [RCV000581679]|not provided [RCV002277567] Chr5:112842034 [GRCh38]
Chr5:112177731 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+12_220+14del deletion Familial adenomatous polyposis 1 [RCV002228949] Chr5:112766420..112766422 [GRCh38]
Chr5:112102117..112102119 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4332A>G (p.Gln1444=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765333]|Hereditary cancer-predisposing syndrome [RCV000566463] Chr5:112839926 [GRCh38]
Chr5:112175623 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1989A>G (p.Gln663=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228950]|Hereditary cancer-predisposing syndrome [RCV000563662]|not specified [RCV002267940] Chr5:112837583 [GRCh38]
Chr5:112173280 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) microsatellite Desmoid disease, hereditary [RCV000000861]|Familial adenomatous polyposis 1 [RCV002229158]|Familial adenomatous polyposis 1 [RCV003765321]|Hereditary cancer-predisposing syndrome [RCV000491422]|not provided [RCV000323095] Chr5:112841416..112841419 [GRCh38]
Chr5:112177113..112177116 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.546A>G (p.Thr182=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765329]|Hereditary cancer-predisposing syndrome [RCV002345736] Chr5:112780804 [GRCh38]
Chr5:112116501 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7577A>G (p.His2526Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000206465]|Hereditary cancer-predisposing syndrome [RCV000570828]|not provided [RCV000236866] Chr5:112843171 [GRCh38]
Chr5:112178868 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3279T>G (p.Phe1093Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765332]|Hereditary cancer-predisposing syndrome [RCV001019600]|not specified [RCV000506632] Chr5:112838873 [GRCh38]
Chr5:112174570 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4344C>T (p.Thr1448=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765335]|Hereditary cancer-predisposing syndrome [RCV000561303]|not provided [RCV002478734] Chr5:112839938 [GRCh38]
Chr5:112175635 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4965A>G (p.Thr1655=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765327]|Hereditary cancer-predisposing syndrome [RCV002336559] Chr5:112840559 [GRCh38]
Chr5:112176256 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8433C>T (p.Asn2811=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534493]|Hereditary cancer-predisposing syndrome [RCV000583687]|not specified [RCV000604446] Chr5:112844027 [GRCh38]
Chr5:112179724 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7557T>C (p.Asp2519=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650463]|Hereditary cancer-predisposing syndrome [RCV000775349] Chr5:112843151 [GRCh38]
Chr5:112178848 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7594C>T (p.His2532Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000203815]|Familial adenomatous polyposis 1 [RCV003316138]|Hereditary cancer-predisposing syndrome [RCV000561106]|not provided [RCV000587117]|not specified [RCV001002346] Chr5:112843188 [GRCh38]
Chr5:112178885 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1589T>C (p.Val530Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000206690]|Familial adenomatous polyposis 1 [RCV003534492]|Hereditary cancer-predisposing syndrome [RCV000566249]|not provided [RCV000657022]|not specified [RCV000235972] Chr5:112827969 [GRCh38]
Chr5:112163666 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000206834]|Familial adenomatous polyposis 1 [RCV003534496]|Hereditary cancer-predisposing syndrome [RCV000491164]|not provided [RCV000236048]|not specified [RCV001193536] Chr5:112838221 [GRCh38]
Chr5:112173918 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2687C>T (p.Ala896Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003468935]|Hereditary cancer-predisposing syndrome [RCV000565612] Chr5:112838281 [GRCh38]
Chr5:112173978 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6109G>A (p.Asp2037Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765324]|Hereditary cancer-predisposing syndrome [RCV002354575] Chr5:112841703 [GRCh38]
Chr5:112177400 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6586A>G (p.Lys2196Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765314]|Hereditary cancer-predisposing syndrome [RCV001524708] Chr5:112842180 [GRCh38]
Chr5:112177877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8439A>C (p.Thr2813=) single nucleotide variant Familial adenomatous polyposis 1 [RCV001421974]|Hereditary cancer-predisposing syndrome [RCV000775358] Chr5:112844033 [GRCh38]
Chr5:112179730 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7143A>C (p.Gln2381His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003468948]|Hereditary cancer-predisposing syndrome [RCV000568621]|not provided [RCV000236701] Chr5:112842737 [GRCh38]
Chr5:112178434 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8484C>G (p.Thr2828=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229172] Chr5:112844078 [GRCh38]
Chr5:112179775 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3029G>A (p.Ser1010Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV000204027]|Hereditary cancer-predisposing syndrome [RCV001018168] Chr5:112838623 [GRCh38]
Chr5:112174320 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3595_3596del (p.Lys1199fs) deletion Familial adenomatous polyposis 1 [RCV002229156]|Familial adenomatous polyposis 1 [RCV002243886]|Hereditary cancer-predisposing syndrome [RCV002336550]|not provided [RCV002512065] Chr5:112839188..112839189 [GRCh38]
Chr5:112174885..112174886 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2991T>C (p.Tyr997=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743631]|Hereditary cancer-predisposing syndrome [RCV000563228] Chr5:112838585 [GRCh38]
Chr5:112174282 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.304T>C (p.Ser102Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530295]|Familial adenomatous polyposis 1 [RCV003744560]|Hereditary cancer-predisposing syndrome [RCV000561562]|not provided [RCV003478245] Chr5:112767272 [GRCh38]
Chr5:112102969 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3587C>T (p.Ser1196Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742684] Chr5:112839181 [GRCh38]
Chr5:112174878 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2235T>C (p.Pro745=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742601]|Hereditary cancer-predisposing syndrome [RCV002431656] Chr5:112837829 [GRCh38]
Chr5:112173526 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.151C>T (p.Leu51=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652051]|Hereditary cancer-predisposing syndrome [RCV000563260] Chr5:112766341 [GRCh38]
Chr5:112102038 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5527C>A (p.Pro1843Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742741]|Hereditary cancer-predisposing syndrome [RCV000567213]|not provided [RCV003313099]|not specified [RCV001805184] Chr5:112841121 [GRCh38]
Chr5:112176818 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1358del (p.Leu453fs) deletion Familial adenomatous polyposis 1 [RCV003337318]|Familial adenomatous polyposis 1 [RCV003744574]|Hereditary cancer-predisposing syndrome [RCV000563944] Chr5:112821941 [GRCh38]
Chr5:112157638 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-188C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651957]|Hereditary cancer-predisposing syndrome [RCV001524617]|not specified [RCV002465709] Chr5:112707530 [GRCh38]
Chr5:112043227 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4752A>C (p.Pro1584=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528953]|Hereditary cancer-predisposing syndrome [RCV000563993] Chr5:112840346 [GRCh38]
Chr5:112176043 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6139A>G (p.Met2047Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526841]|Familial adenomatous polyposis 1 [RCV003537100]|Hereditary cancer-predisposing syndrome [RCV000561832] Chr5:112841733 [GRCh38]
Chr5:112177430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6681C>T (p.Gly2227=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562361] Chr5:112842275 [GRCh38]
Chr5:112177972 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5356A>G (p.Arg1786Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652005]|Hereditary cancer-predisposing syndrome [RCV000562364] Chr5:112840950 [GRCh38]
Chr5:112176647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6414G>A (p.Leu2138=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767150]|Hereditary cancer-predisposing syndrome [RCV000563756] Chr5:112842008 [GRCh38]
Chr5:112177705 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527852]|Hereditary cancer-predisposing syndrome [RCV000566022]|not provided [RCV003128660]|not specified [RCV000606972] Chr5:112842106 [GRCh38]
Chr5:112177803 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4296A>G (p.Pro1432=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564799] Chr5:112839890 [GRCh38]
Chr5:112175587 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.968G>C (p.Gly323Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000548276]|Hereditary cancer-predisposing syndrome [RCV000565604] Chr5:112819000 [GRCh38]
Chr5:112154697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6554G>A (p.Ser2185Asn) single nucleotide variant APC-related condition [RCV003409800]|Familial adenomatous polyposis 1 [RCV002526312]|Hereditary cancer-predisposing syndrome [RCV000573529]|not provided [RCV001569317] Chr5:112842148 [GRCh38]
Chr5:112177845 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7074C>T (p.Ser2358=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767039]|Hereditary cancer-predisposing syndrome [RCV000566356] Chr5:112842668 [GRCh38]
Chr5:112178365 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2158A>G (p.Met720Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650467]|Hereditary cancer-predisposing syndrome [RCV002426980]|Monoclonal B-Cell Lymphocytosis [RCV000208573] Chr5:112837752 [GRCh38]
Chr5:112173449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4696G>C (p.Asp1566His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459336]|Hereditary cancer-predisposing syndrome [RCV000562023] Chr5:112840290 [GRCh38]
Chr5:112175987 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1082A>G (p.His361Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652023]|Hereditary cancer-predisposing syndrome [RCV000562846]|not provided [RCV003327427] Chr5:112819114 [GRCh38]
Chr5:112154811 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4088A>G (p.Lys1363Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476335]|Hereditary cancer-predisposing syndrome [RCV000562963]|not provided [RCV000985302]|not specified [RCV001194173] Chr5:112839682 [GRCh38]
Chr5:112175379 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.800G>A (p.Gly267Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232062]|Hereditary cancer-predisposing syndrome [RCV000575724] Chr5:112801349 [GRCh38]
Chr5:112137046 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4585C>T (p.Gln1529Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335448]|not provided [RCV000519138] Chr5:112840179 [GRCh38]
Chr5:112175876 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8128A>C (p.Ser2710Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000534149]|Familial adenomatous polyposis 1 [RCV003316715]|Hereditary cancer-predisposing syndrome [RCV000574146]|not provided [RCV000588362] Chr5:112843722 [GRCh38]
Chr5:112179419 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7135A>C (p.Thr2379Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003465215]|Familial adenomatous polyposis 1 [RCV003652016]|Hereditary cancer-predisposing syndrome [RCV000563147] Chr5:112842729 [GRCh38]
Chr5:112178426 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-126G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651955]|Hereditary cancer-predisposing syndrome [RCV001183244]|not provided [RCV001704678] Chr5:112707592 [GRCh38]
Chr5:112043289 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1494del (p.Arg498fs) deletion not provided [RCV000582844] Chr5:112827193 [GRCh38]
Chr5:112162890 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2825del (p.Asn942fs) deletion Familial adenomatous polyposis 1 [RCV003653213]|not provided [RCV000583175] Chr5:112838416 [GRCh38]
Chr5:112174113 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5971_5972insGCAGCATCTGATGAAAAGTTACAGAATTTTGCTATTGAAAATACTCCGGTTTGCTTTTCTCATAATTCCTCTCTGAGTTCTCTCAGTGACATTGACCAAGAAAACAACAATAAAGAAAATGAACCTATCAAAGAGACTGG (p.Glu1991delinsGlySerIleTer) insertion not provided [RCV000755826] Chr5:112841564..112841565 [GRCh38]
Chr5:112177261..112177262 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1405C>G (p.Leu469Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579533] Chr5:112821988 [GRCh38]
Chr5:112157685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3445G>C (p.Glu1149Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579541] Chr5:112839039 [GRCh38]
Chr5:112174736 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2439T>A (p.Asn813Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767260]|Hereditary cancer-predisposing syndrome [RCV000579608] Chr5:112838033 [GRCh38]
Chr5:112173730 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4804_4806delinsACA (p.Pro1602Thr) indel Hereditary cancer-predisposing syndrome [RCV000579896] Chr5:112840398..112840400 [GRCh38]
Chr5:112176095..112176097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7842A>C (p.Lys2614Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579926] Chr5:112843436 [GRCh38]
Chr5:112179133 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5027G>A (p.Arg1676Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653182]|Hereditary cancer-predisposing syndrome [RCV000579940]|not provided [RCV001800795] Chr5:112840621 [GRCh38]
Chr5:112176318 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs) deletion Familial adenomatous polyposis 1 [RCV003336081]|Familial adenomatous polyposis 1 [RCV003653214]|Hereditary cancer-predisposing syndrome [RCV002384280]|not provided [RCV000584000] Chr5:112842862..112842865 [GRCh38]
Chr5:112178559..112178562 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2926dup (p.Arg976fs) duplication not provided [RCV000584410] Chr5:112838516..112838517 [GRCh38]
Chr5:112174213..112174214 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4670T>A (p.Ile1557Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579761] Chr5:112840264 [GRCh38]
Chr5:112175961 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1417C>T (p.Gln473Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519679]|Familial adenomatous polyposis 1 [RCV003743652]|Hereditary cancer-predisposing syndrome [RCV000219498] Chr5:112827116 [GRCh38]
Chr5:112162813 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3860T>C (p.Ile1287Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219539] Chr5:112839454 [GRCh38]
Chr5:112175151 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4710T>A (p.Asp1570Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743670]|Hereditary cancer-predisposing syndrome [RCV000219554] Chr5:112840304 [GRCh38]
Chr5:112176001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1342C>G (p.Pro448Ala) single nucleotide variant APC-related condition [RCV003417795]|Familial adenomatous polyposis 1 [RCV002516173]|Familial adenomatous polyposis 1 [RCV003650512]|Hereditary cancer-predisposing syndrome [RCV000219615]|not provided [RCV001575306] Chr5:112821925 [GRCh38]
Chr5:112157622 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5472T>C (p.Asn1824=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650508]|Hereditary cancer-predisposing syndrome [RCV000221763] Chr5:112841066 [GRCh38]
Chr5:112176763 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3479C>T (p.Thr1160Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534506]|Hereditary cancer-predisposing syndrome [RCV000221872] Chr5:112839073 [GRCh38]
Chr5:112174770 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5162G>A (p.Gly1721Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535576]|Hereditary cancer-predisposing syndrome [RCV000221896] Chr5:112840756 [GRCh38]
Chr5:112176453 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.5099C>T (p.Ala1700Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003475040]|Hereditary cancer-predisposing syndrome [RCV000215285] Chr5:112840693 [GRCh38]
Chr5:112176390 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4757A>T (p.Lys1586Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518304]|Hereditary cancer-predisposing syndrome [RCV000215301] Chr5:112840351 [GRCh38]
Chr5:112176048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+2T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003148685]|Familial adenomatous polyposis 1 [RCV003335249]|Hereditary cancer-predisposing syndrome [RCV000215321] Chr5:112828008 [GRCh38]
Chr5:112163705 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.220G>T (p.Glu74Ter) single nucleotide variant Carcinoma of colon [RCV000501460]|Familial adenomatous polyposis 1 [RCV002228955]|Hereditary cancer-predisposing syndrome [RCV000215333]|not provided [RCV000254875] Chr5:112766410 [GRCh38]
Chr5:112102107 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3021A>G (p.Lys1007=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743683]|Hereditary cancer-predisposing syndrome [RCV000215373] Chr5:112838615 [GRCh38]
Chr5:112174312 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1334A>G (p.Gln445Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000797292]|Familial adenomatous polyposis 1 [RCV003534518]|Hereditary cancer-predisposing syndrome [RCV000217121]|not provided [RCV001753662] Chr5:112821917 [GRCh38]
Chr5:112157614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5674G>A (p.Ala1892Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743657]|Hereditary cancer-predisposing syndrome [RCV000219731] Chr5:112841268 [GRCh38]
Chr5:112176965 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4170C>T (p.Val1390=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765418]|Hereditary cancer-predisposing syndrome [RCV000219732] Chr5:112839764 [GRCh38]
Chr5:112175461 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1609A>G (p.Ser537Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743654]|Hereditary cancer-predisposing syndrome [RCV000221935] Chr5:112827989 [GRCh38]
Chr5:112163686 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1344T>A (p.Pro448=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534523]|Hereditary cancer-predisposing syndrome [RCV000221988] Chr5:112821927 [GRCh38]
Chr5:112157624 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.588C>T (p.Ile196=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743665]|Hereditary cancer-predisposing syndrome [RCV000223661]|not provided [RCV000679072]|not specified [RCV003987456] Chr5:112780846 [GRCh38]
Chr5:112116543 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.311C>G (p.Ser104Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001254064]|Familial adenomatous polyposis 1 [RCV003335254]|Hereditary cancer-predisposing syndrome [RCV000213087]|not provided [RCV000519665]|not specified [RCV000506152] Chr5:112767279 [GRCh38]
Chr5:112102976 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1307A>T (p.Asn436Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743651]|Hereditary cancer-predisposing syndrome [RCV000217258] Chr5:112819339 [GRCh38]
Chr5:112155036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1179A>G (p.Ser393=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765419]|Hereditary cancer-predisposing syndrome [RCV000217282] Chr5:112819211 [GRCh38]
Chr5:112154908 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1112G>A (p.Gly371Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535574]|Hereditary cancer-predisposing syndrome [RCV000217359] Chr5:112819144 [GRCh38]
Chr5:112154841 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2463C>T (p.Val821=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765407]|Hereditary cancer-predisposing syndrome [RCV000217368]|not specified [RCV000605441] Chr5:112838057 [GRCh38]
Chr5:112173754 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6709C>A (p.Arg2237=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535584]|Hereditary cancer-predisposing syndrome [RCV000219807] Chr5:112842303 [GRCh38]
Chr5:112178000 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7278A>G (p.Gly2426=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534515]|Hereditary cancer-predisposing syndrome [RCV000222132]|not provided [RCV001697194]|not specified [RCV000440561] Chr5:112842872 [GRCh38]
Chr5:112178569 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7471A>G (p.Met2491Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000232400]|Familial adenomatous polyposis 1 [RCV003316217]|Hereditary cancer-predisposing syndrome [RCV000222149]|not provided [RCV000758743] Chr5:112843065 [GRCh38]
Chr5:112178762 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1276G>T (p.Ala426Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650478]|Hereditary cancer-predisposing syndrome [RCV000222204]|not provided [RCV001571736] Chr5:112819308 [GRCh38]
Chr5:112155005 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.858T>C (p.His286=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650487]|Hereditary cancer-predisposing syndrome [RCV000213189]|not provided [RCV001711510] Chr5:112815518 [GRCh38]
Chr5:112151215 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1999C>T (p.Gln667Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229299]|Familial adenomatous polyposis 1 [RCV003765431]|Hereditary cancer-predisposing syndrome [RCV000213199] Chr5:112837593 [GRCh38]
Chr5:112173290 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6279C>T (p.Ser2093=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743655]|Hereditary cancer-predisposing syndrome [RCV000213217] Chr5:112841873 [GRCh38]
Chr5:112177570 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.703T>C (p.Leu235=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535585]|Hereditary cancer-predisposing syndrome [RCV000213255]|not specified [RCV000604137] Chr5:112792503 [GRCh38]
Chr5:112128200 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5652A>C (p.Ala1884=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213277] Chr5:112841246 [GRCh38]
Chr5:112176943 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002229210]|Familial adenomatous polyposis 1 [RCV003462425]|Hereditary cancer-predisposing syndrome [RCV000213314] Chr5:112767188 [GRCh38]
Chr5:112102885 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3807A>G (p.Ile1269Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519672]|Familial adenomatous polyposis 1 [RCV003534507]|Hereditary cancer-predisposing syndrome [RCV000217406]|not provided [RCV000587220] Chr5:112839401 [GRCh38]
Chr5:112175098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4902G>A (p.Pro1634=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534520]|Hereditary cancer-predisposing syndrome [RCV000217411]|not specified [RCV000587131] Chr5:112840496 [GRCh38]
Chr5:112176193 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5627G>T (p.Arg1876Met) single nucleotide variant Desmoid disease, hereditary [RCV002494584]|Familial adenomatous polyposis 1 [RCV003743647]|Hereditary cancer-predisposing syndrome [RCV000217420]|not provided [RCV000237081] Chr5:112841221 [GRCh38]
Chr5:112176918 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6344T>G (p.Leu2115Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217426] Chr5:112841938 [GRCh38]
Chr5:112177635 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4440G>A (p.Gln1480=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650498]|Hereditary cancer-predisposing syndrome [RCV000217465] Chr5:112840034 [GRCh38]
Chr5:112175731 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5158del (p.Glu1720fs) deletion Hereditary cancer-predisposing syndrome [RCV000219835] Chr5:112840751 [GRCh38]
Chr5:112176448 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1866C>T (p.Tyr622=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003633488]|Hereditary cancer-predisposing syndrome [RCV000222219] Chr5:112835073 [GRCh38]
Chr5:112170770 [GRCh37]
Chr5:5q22.2		 pathogenic|likely benign
NM_000038.6(APC):c.8499C>G (p.Arg2833=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535572]|Hereditary cancer-predisposing syndrome [RCV000213358]|not provided [RCV000827449] Chr5:112844093 [GRCh38]
Chr5:112179790 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6549T>G (p.Ser2183=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213371] Chr5:112842143 [GRCh38]
Chr5:112177840 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7020C>T (p.Asn2340=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743664]|Hereditary cancer-predisposing syndrome [RCV000213378]|not provided [RCV001705223] Chr5:112842614 [GRCh38]
Chr5:112178311 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.628A>G (p.Met210Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213400] Chr5:112780886 [GRCh38]
Chr5:112116583 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5089A>G (p.Thr1697Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515686]|Hereditary cancer-predisposing syndrome [RCV000217497]|not provided [RCV003477752] Chr5:112840683 [GRCh38]
Chr5:112176380 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+1G>A single nucleotide variant Desmoid disease, hereditary [RCV000763539]|Familial adenomatous polyposis 1 [RCV003337260]|Hereditary cancer-predisposing syndrome [RCV000217532] Chr5:112815594 [GRCh38]
Chr5:112151291 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.531+1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000411683]|Hereditary cancer-predisposing syndrome [RCV000217536]|not provided [RCV000482581] Chr5:112775738 [GRCh38]
Chr5:112111435 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) single nucleotide variant Carcinoma of colon [RCV000504287]|Familial adenomatous polyposis 1 [RCV002516171]|Familial adenomatous polyposis 1 [RCV003650511]|Hereditary cancer-predisposing syndrome [RCV000217597]|not provided [RCV000584117] Chr5:112835073 [GRCh38]
Chr5:112170770 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7518A>G (p.Lys2506=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217606] Chr5:112843112 [GRCh38]
Chr5:112178809 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2300A>G (p.Gln767Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537199]|Hereditary cancer-predisposing syndrome [RCV000561891]|not provided [RCV001568798] Chr5:112837894 [GRCh38]
Chr5:112173591 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1834G>T (p.Ala612Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767165]|Hereditary cancer-predisposing syndrome [RCV000564373] Chr5:112835041 [GRCh38]
Chr5:112170738 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.384A>G (p.Arg128=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515633]|Hereditary cancer-predisposing syndrome [RCV000213500]|not provided [RCV000484255] Chr5:112767352 [GRCh38]
Chr5:112103049 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3943T>C (p.Ser1315Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000213506] Chr5:112839537 [GRCh38]
Chr5:112175234 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4876C>T (p.Pro1626Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743675]|Hereditary cancer-predisposing syndrome [RCV000213555] Chr5:112840470 [GRCh38]
Chr5:112176167 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5402C>T (p.Ala1801Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743666]|Hereditary cancer-predisposing syndrome [RCV000213557] Chr5:112840996 [GRCh38]
Chr5:112176693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7812C>G (p.Asn2604Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650499]|Hereditary cancer-predisposing syndrome [RCV000213566] Chr5:112843406 [GRCh38]
Chr5:112179103 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1691G>A (p.Arg564Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743674]|Hereditary cancer-predisposing syndrome [RCV000213578]|not provided [RCV001572567]|not specified [RCV000779711] Chr5:112828920 [GRCh38]
Chr5:112164617 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4243A>T (p.Ser1415Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516164]|Familial adenomatous polyposis 1 [RCV003743678]|Hereditary cancer-predisposing syndrome [RCV000213600] Chr5:112839837 [GRCh38]
Chr5:112175534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.489G>C (p.Gln163His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743681]|Hereditary cancer-predisposing syndrome [RCV000217642] Chr5:112775695 [GRCh38]
Chr5:112111392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7856A>C (p.Glu2619Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534522]|Hereditary cancer-predisposing syndrome [RCV000217694] Chr5:112843450 [GRCh38]
Chr5:112179147 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5944A>T (p.Lys1982Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229329]|Familial adenomatous polyposis 1 [RCV003765441]|Hereditary cancer-predisposing syndrome [RCV000217699] Chr5:112841538 [GRCh38]
Chr5:112177235 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6213A>G (p.Ile2071Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515718]|Hereditary cancer-predisposing syndrome [RCV000217724] Chr5:112841807 [GRCh38]
Chr5:112177504 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7720C>A (p.Leu2574Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987586]|Hereditary cancer-predisposing syndrome [RCV000217741] Chr5:112843314 [GRCh38]
Chr5:112179011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6948A>G (p.Pro2316=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003316207]|Hereditary cancer-predisposing syndrome [RCV000220054]|not provided [RCV001705210]|not specified [RCV002265690] Chr5:112842542 [GRCh38]
Chr5:112178239 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5092G>A (p.Asp1698Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708969]|Hereditary cancer-predisposing syndrome [RCV000220073] Chr5:112840686 [GRCh38]
Chr5:112176383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4627A>G (p.Lys1543Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534514]|Hereditary cancer-predisposing syndrome [RCV000220113] Chr5:112840221 [GRCh38]
Chr5:112175918 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8514C>G (p.Tyr2838Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765436]|Hereditary cancer-predisposing syndrome [RCV000220158] Chr5:112844108 [GRCh38]
Chr5:112179805 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.251G>T (p.Gly84Val) single nucleotide variant APC-related condition [RCV003417782]|Familial adenomatous polyposis 1 [RCV003462427]|Hereditary cancer-predisposing syndrome [RCV000220182] Chr5:112767219 [GRCh38]
Chr5:112102916 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.184TCT[1] (p.Ser63del) microsatellite Familial adenomatous polyposis 1 [RCV003535589]|Hereditary cancer-predisposing syndrome [RCV000220184]|not provided [RCV001753679] Chr5:112766372..112766374 [GRCh38]
Chr5:112102069..112102071 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4669A>T (p.Ile1557Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568519] Chr5:112840263 [GRCh38]
Chr5:112175960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.712dup (p.Gln238fs) duplication Familial adenomatous polyposis 1 [RCV003537083] Chr5:112792509..112792510 [GRCh38]
Chr5:112128206..112128207 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1061C>A (p.Pro354His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743768] Chr5:112819093 [GRCh38]
Chr5:112154790 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7095A>G (p.Ser2365=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650473]|Hereditary cancer-predisposing syndrome [RCV000213656]|not provided [RCV001706239]|not specified [RCV000442345] Chr5:112842689 [GRCh38]
Chr5:112178386 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.3509A>G (p.Lys1170Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535580]|Hereditary cancer-predisposing syndrome [RCV000213754]|not provided [RCV000985297] Chr5:112839103 [GRCh38]
Chr5:112174800 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6950T>C (p.Leu2317Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215442] Chr5:112842544 [GRCh38]
Chr5:112178241 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.948T>C (p.Tyr316=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229243]|Hereditary cancer-predisposing syndrome [RCV000217858]|not provided [RCV001800554]|not specified [RCV000435661] Chr5:112818980 [GRCh38]
Chr5:112154677 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.875T>A (p.Leu292Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217871] Chr5:112815535 [GRCh38]
Chr5:112151232 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3161A>C (p.His1054Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000232950]|Familial adenomatous polyposis 1 [RCV003316225]|Familial adenomatous polyposis 1 [RCV003650497]|Hereditary cancer-predisposing syndrome [RCV000217896]|not provided [RCV000657005]|not specified [RCV000236039] Chr5:112838755 [GRCh38]
Chr5:112174452 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4706_4707del (p.Asp1569fs) deletion Familial adenomatous polyposis 1 [RCV003337259]|Hereditary cancer-predisposing syndrome [RCV000220260] Chr5:112840300..112840301 [GRCh38]
Chr5:112175997..112175998 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5802C>G (p.Pro1934=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765409]|Hereditary cancer-predisposing syndrome [RCV000220324]|not specified [RCV000432312] Chr5:112841396 [GRCh38]
Chr5:112177093 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3700A>T (p.Ser1234Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534526]|Hereditary cancer-predisposing syndrome [RCV000213776] Chr5:112839294 [GRCh38]
Chr5:112174991 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515704]|Familial adenomatous polyposis 1 [RCV003743671]|Hereditary cancer-predisposing syndrome [RCV000213818]|not provided [RCV001800574] Chr5:112838678 [GRCh38]
Chr5:112174375 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.5795C>T (p.Thr1932Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215529] Chr5:112841389 [GRCh38]
Chr5:112177086 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4020T>C (p.Ser1340=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650495]|Hereditary cancer-predisposing syndrome [RCV000215571]|not specified [RCV001818532] Chr5:112839614 [GRCh38]
Chr5:112175311 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1654_1658del (p.Ser552fs) deletion Familial adenomatous polyposis 1 [RCV003337255]|Hereditary cancer-predisposing syndrome [RCV000217935] Chr5:112828880..112828884 [GRCh38]
Chr5:112164577..112164581 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.278T>A (p.Leu93His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650481]|Hereditary cancer [RCV003491973]|Hereditary cancer-predisposing syndrome [RCV000217948] Chr5:112767246 [GRCh38]
Chr5:112102943 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1743+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003337258]|Familial adenomatous polyposis 1 [RCV003743662]|Hereditary cancer-predisposing syndrome [RCV000217961] Chr5:112828973 [GRCh38]
Chr5:112164670 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515656]|Hereditary cancer-predisposing syndrome [RCV000218058]|not provided [RCV001563151]|not specified [RCV003488476] Chr5:112841512 [GRCh38]
Chr5:112177209 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6349C>G (p.Gln2117Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519736]|Familial adenomatous polyposis 1 [RCV003650509]|Hereditary cancer-predisposing syndrome [RCV000218076]|not provided [RCV001753680] Chr5:112841943 [GRCh38]
Chr5:112177640 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5576A>G (p.Asn1859Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650469]|Hereditary cancer-predisposing syndrome [RCV000220393]|not specified [RCV002247646] Chr5:112841170 [GRCh38]
Chr5:112176867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser) single nucleotide variant Desmoid disease, hereditary [RCV002478806]|Familial adenomatous polyposis 1 [RCV002291603]|Familial adenomatous polyposis 1 [RCV003650501]|Hereditary cancer-predisposing syndrome [RCV000220467]|not provided [RCV000236554]|not specified [RCV001280597] Chr5:112842699 [GRCh38]
Chr5:112178396 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.74A>G (p.Gln25Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220479] Chr5:112754964 [GRCh38]
Chr5:112090661 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3871C>T (p.Gln1291Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534662] Chr5:112839465 [GRCh38]
Chr5:112175162 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5714A>G (p.Gln1905Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765402]|Hereditary cancer-predisposing syndrome [RCV000213942] Chr5:112841308 [GRCh38]
Chr5:112177005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5114C>G (p.Thr1705Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534516]|Familial multiple polyposis syndrome [RCV000239282]|Hereditary cancer-predisposing syndrome [RCV000213949] Chr5:112840708 [GRCh38]
Chr5:112176405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6383C>T (p.Ala2128Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743669]|Hereditary cancer-predisposing syndrome [RCV000213966]|not provided [RCV001562688] Chr5:112841977 [GRCh38]
Chr5:112177674 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.4913T>C (p.Met1638Thr) single nucleotide variant APC-Associated Polyposis Disorders [RCV000348692]|Familial adenomatous polyposis 1 [RCV003650488]|Hereditary cancer-predisposing syndrome [RCV000213972]|not provided [RCV000586239] Chr5:112840507 [GRCh38]
Chr5:112176204 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6877G>C (p.Gly2293Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743682]|Hereditary cancer-predisposing syndrome [RCV000213981] Chr5:112842471 [GRCh38]
Chr5:112178168 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7208A>C (p.Gln2403Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535592]|Hereditary cancer-predisposing syndrome [RCV000214045] Chr5:112842802 [GRCh38]
Chr5:112178499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3774A>G (p.Thr1258=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518244]|Hereditary cancer-predisposing syndrome [RCV000214056]|not provided [RCV000759426]|not specified [RCV000601526] Chr5:112839368 [GRCh38]
Chr5:112175065 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6117G>A (p.Leu2039=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229238]|Hereditary cancer-predisposing syndrome [RCV000215705] Chr5:112841711 [GRCh38]
Chr5:112177408 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5262T>A (p.Ser1754=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650496]|Hereditary cancer-predisposing syndrome [RCV000215707] Chr5:112840856 [GRCh38]
Chr5:112176553 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8298C>T (p.Ser2766=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157356]|Familial adenomatous polyposis 1 [RCV003743648]|Hereditary cancer-predisposing syndrome [RCV000215817]|not provided [RCV001712099] Chr5:112843892 [GRCh38]
Chr5:112179589 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.6860G>A (p.Arg2287Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765423]|Hereditary cancer-predisposing syndrome [RCV000215820] Chr5:112842454 [GRCh38]
Chr5:112178151 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2194A>G (p.Asn732Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765414]|Hereditary cancer-predisposing syndrome [RCV000215825] Chr5:112837788 [GRCh38]
Chr5:112173485 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+5C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743656]|Hereditary cancer-predisposing syndrome [RCV000220507]|not provided [RCV001705214]|not specified [RCV000417629] Chr5:112815598 [GRCh38]
Chr5:112151295 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2870A>G (p.Lys957Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000411470]|Familial adenomatous polyposis 1 [RCV003316220]|Hereditary cancer-predisposing syndrome [RCV000220541]|not provided [RCV000586497] Chr5:112838464 [GRCh38]
Chr5:112174161 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5973del (p.Glu1991fs) deletion Hereditary cancer-predisposing syndrome [RCV000220550] Chr5:112841567 [GRCh38]
Chr5:112177264 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1829A>G (p.Asp610Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229549]|Familial adenomatous polyposis 1 [RCV003765406]|Hereditary cancer-predisposing syndrome [RCV000220561]|not provided [RCV003477724]|not specified [RCV000603089] Chr5:112835036 [GRCh38]
Chr5:112170733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2672T>C (p.Met891Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515681]|Familial adenomatous polyposis 1 [RCV003743663]|Hereditary cancer-predisposing syndrome [RCV000220564]|not provided [RCV003477749] Chr5:112838266 [GRCh38]
Chr5:112173963 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000463670]|Familial adenomatous polyposis 1 [RCV003650479]|Hereditary cancer-predisposing syndrome [RCV000220589]|not provided [RCV001785522]|not specified [RCV003320610] Chr5:112839904 [GRCh38]
Chr5:112175601 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) single nucleotide variant Desmoid disease, hereditary [RCV000764563]|Familial adenomatous polyposis 1 [RCV002515684]|Familial adenomatous polyposis 1 [RCV003743667]|Hereditary cancer-predisposing syndrome [RCV000220641]|not provided [RCV000485918]|not specified [RCV001174911] Chr5:112838068 [GRCh38]
Chr5:112173765 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7529A>G (p.Asn2510Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534517]|Hereditary cancer-predisposing syndrome [RCV000214071] Chr5:112843123 [GRCh38]
Chr5:112178820 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4376C>G (p.Thr1459Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000461981]|Familial adenomatous polyposis 1 [RCV003743650]|Hereditary cancer-predisposing syndrome [RCV000214073]|not provided [RCV003477717] Chr5:112839970 [GRCh38]
Chr5:112175667 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.4891A>T (p.Ser1631Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743679]|Hereditary cancer-predisposing syndrome [RCV000214080]|not provided [RCV002285287] Chr5:112840485 [GRCh38]
Chr5:112176182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337254]|Familial multiple polyposis syndrome [RCV001260374]|Hereditary cancer-predisposing syndrome [RCV000214118]|not provided [RCV000507363] Chr5:112840632 [GRCh38]
Chr5:112176329 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4120G>A (p.Glu1374Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002228962]|Hereditary cancer-predisposing syndrome [RCV000214147]|not provided [RCV000485309] Chr5:112839714 [GRCh38]
Chr5:112175411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8258A>G (p.Glu2753Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000468899]|Familial adenomatous polyposis 1 [RCV003316231]|Hereditary cancer-predisposing syndrome [RCV000214175] Chr5:112843852 [GRCh38]
Chr5:112179549 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1366C>T (p.Leu456Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535578]|Hereditary cancer-predisposing syndrome [RCV000214194]|not provided [RCV000590719] Chr5:112821949 [GRCh38]
Chr5:112157646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6381A>G (p.Gln2127=) single nucleotide variant APC-related condition [RCV003947729]|Familial adenomatous polyposis 1 [RCV003535586]|Hereditary cancer-predisposing syndrome [RCV000214198]|not provided [RCV001705227] Chr5:112841975 [GRCh38]
Chr5:112177672 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1175A>G (p.His392Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650475]|Hereditary cancer-predisposing syndrome [RCV000214204]|not provided [RCV001358135] Chr5:112819207 [GRCh38]
Chr5:112154904 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8150G>A (p.Gly2717Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765398]|Hereditary cancer-predisposing syndrome [RCV000215914]|not provided [RCV002478784] Chr5:112843744 [GRCh38]
Chr5:112179441 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6649C>T (p.Leu2217Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516162]|Familial adenomatous polyposis 1 [RCV003650510]|Hereditary cancer-predisposing syndrome [RCV000218315] Chr5:112842243 [GRCh38]
Chr5:112177940 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.839C>T (p.Ser280Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765397]|Hereditary cancer-predisposing syndrome [RCV000218327] Chr5:112815499 [GRCh38]
Chr5:112151196 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1531G>T (p.Gly511Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765410]|Hereditary cancer-predisposing syndrome [RCV000220669] Chr5:112827230 [GRCh38]
Chr5:112162927 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3014C>T (p.Ala1005Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229315]|Hereditary cancer-predisposing syndrome [RCV000220684] Chr5:112838608 [GRCh38]
Chr5:112174305 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2778T>C (p.Ser926=) single nucleotide variant APC-related condition [RCV003897491]|Familial adenomatous polyposis 1 [RCV003103747]|Hereditary cancer-predisposing syndrome [RCV000220698]|not provided [RCV000530592]|not specified [RCV000507103] Chr5:112838372 [GRCh38]
Chr5:112174069 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.443T>A (p.Leu148His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534513]|Hereditary cancer-predisposing syndrome [RCV000220750] Chr5:112775649 [GRCh38]
Chr5:112111346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6497G>A (p.Arg2166Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518261]|Familial adenomatous polyposis 1 [RCV003650477]|Hereditary cancer-predisposing syndrome [RCV000220763]|not provided [RCV003318562] Chr5:112842091 [GRCh38]
Chr5:112177788 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1959-2A>G single nucleotide variant Carcinoma of colon [RCV000501512]|Familial adenomatous polyposis 1 [RCV002518241]|Familial adenomatous polyposis 1 [RCV003335236]|Hereditary cancer-predisposing syndrome [RCV000220818] Chr5:112837551 [GRCh38]
Chr5:112173248 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6354TGC[3] (p.Ala2122del) microsatellite Familial adenomatous polyposis 1 [RCV003535579]|Hereditary cancer-predisposing syndrome [RCV000220820] Chr5:112841946..112841948 [GRCh38]
Chr5:112177643..112177645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6576A>G (p.Lys2192=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535573]|Hereditary cancer-predisposing syndrome [RCV000222444] Chr5:112842170 [GRCh38]
Chr5:112177867 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.239G>C (p.Ser80Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534527]|Hereditary cancer-predisposing syndrome [RCV000222538] Chr5:112767207 [GRCh38]
Chr5:112102904 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-1605T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208898] Chr5:112779185 [GRCh38]
Chr5:112114882 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-212C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209063] Chr5:112827717 [GRCh38]
Chr5:112163414 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28616G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209132] Chr5:112737710 [GRCh38]
Chr5:112073407 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1972G>C (p.Glu658Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515730]|Familial adenomatous polyposis 1 [RCV003535588]|Hereditary cancer-predisposing syndrome [RCV000214224] Chr5:112837566 [GRCh38]
Chr5:112173263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1234C>T (p.Gln412Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516175]|Familial adenomatous polyposis 1 [RCV003535593]|Hereditary cancer-predisposing syndrome [RCV000214229] Chr5:112819266 [GRCh38]
Chr5:112154963 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519728]|Familial adenomatous polyposis 1 [RCV003650503]|Hereditary cancer-predisposing syndrome [RCV000214237]|not provided [RCV000481205]|not specified [RCV000780839] Chr5:112843072 [GRCh38]
Chr5:112178769 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5424C>T (p.Asn1808=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001152937]|Familial adenomatous polyposis 1 [RCV003743659]|Hereditary cancer-predisposing syndrome [RCV000216012]|not provided [RCV001545827] Chr5:112841018 [GRCh38]
Chr5:112176715 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1746A>G (p.Glu582=) single nucleotide variant APC-related condition [RCV003897486]|Familial adenomatous polyposis 1 [RCV002518292]|Familial adenomatous polyposis 1 [RCV003765413]|Hereditary cancer-predisposing syndrome [RCV000216109]|not provided [RCV001533785]|not specified [RCV001818523] Chr5:112834953 [GRCh38]
Chr5:112170650 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.2322C>A (p.Asp774Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743661]|Hereditary cancer-predisposing syndrome [RCV000216117] Chr5:112837916 [GRCh38]
Chr5:112173613 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7754A>C (p.Lys2585Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743653]|Hereditary cancer-predisposing syndrome [RCV000216119] Chr5:112843348 [GRCh38]
Chr5:112179045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2993G>T (p.Gly998Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000761125]|Hereditary cancer-predisposing syndrome [RCV000216134]|not provided [RCV003325472] Chr5:112838587 [GRCh38]
Chr5:112174284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7128G>C (p.Gln2376His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534521]|Hereditary cancer-predisposing syndrome [RCV000218412] Chr5:112842722 [GRCh38]
Chr5:112178419 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4015G>A (p.Gly1339Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534500]|Hereditary cancer-predisposing syndrome [RCV000218448] Chr5:112839609 [GRCh38]
Chr5:112175306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1811C>G (p.Ala604Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516161]|Familial adenomatous polyposis 1 [RCV003743676]|Hereditary cancer-predisposing syndrome [RCV000218469]|not provided [RCV000481347]|not specified [RCV003401151] Chr5:112835018 [GRCh38]
Chr5:112170715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5025T>G (p.Val1675=) single nucleotide variant APC-related condition [RCV003907828]|Familial adenomatous polyposis 1 [RCV003650471]|Hereditary cancer-predisposing syndrome [RCV000218471]|not provided [RCV000758731]|not specified [RCV002509311] Chr5:112840619 [GRCh38]
Chr5:112176316 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4941A>G (p.Thr1647=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218483] Chr5:112840535 [GRCh38]
Chr5:112176232 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4599T>C (p.Asn1533=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765412]|Hereditary cancer-predisposing syndrome [RCV000218504] Chr5:112840193 [GRCh38]
Chr5:112175890 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4279C>G (p.Pro1427Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534504]|Hereditary cancer-predisposing syndrome [RCV000218514]|not provided [RCV001775678]|not specified [RCV001797678] Chr5:112839873 [GRCh38]
Chr5:112175570 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4437C>T (p.Val1479=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765417]|Hereditary cancer-predisposing syndrome [RCV000222548]|not specified [RCV000429237] Chr5:112840031 [GRCh38]
Chr5:112175728 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.75A>G (p.Gln25=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534525]|Hereditary cancer-predisposing syndrome [RCV000222595]|not specified [RCV000433787] Chr5:112754965 [GRCh38]
Chr5:112090662 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2546A>G (p.Asp849Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535591]|Hereditary cancer-predisposing syndrome [RCV000222674] Chr5:112838140 [GRCh38]
Chr5:112173837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2976T>C (p.Ser992=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743668]|Hereditary cancer-predisposing syndrome [RCV000222688] Chr5:112838570 [GRCh38]
Chr5:112174267 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-18-952T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208888] Chr5:112753921 [GRCh38]
Chr5:112089618 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.834+4088G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208915] Chr5:112805471 [GRCh38]
Chr5:112141168 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+3642A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208930] Chr5:112784545 [GRCh38]
Chr5:112120242 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-18-871T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208957] Chr5:112754002 [GRCh38]
Chr5:112089699 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+663G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208982] Chr5:112781566 [GRCh38]
Chr5:112117263 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-144A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209001] Chr5:112834807 [GRCh38]
Chr5:112170504 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+1074A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209193] Chr5:112708956 [GRCh38]
Chr5:112044653 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-646A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209328] Chr5:112765680 [GRCh38]
Chr5:112101377 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-2354A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209376] Chr5:112824754 [GRCh38]
Chr5:112160451 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2433A>G (p.Ser811=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534501]|Hereditary cancer-predisposing syndrome [RCV000214365]|not provided [RCV000600698]|not specified [RCV001800542] Chr5:112838027 [GRCh38]
Chr5:112173724 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1204C>T (p.Arg402Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535590]|Hereditary cancer-predisposing syndrome [RCV000214416] Chr5:112819236 [GRCh38]
Chr5:112154933 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2260G>A (p.Val754Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534509]|Hereditary cancer-predisposing syndrome [RCV000216142] Chr5:112837854 [GRCh38]
Chr5:112173551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6059_6062del (p.Cys2020fs) microsatellite Familial adenomatous polyposis 1 [RCV003765433]|Hereditary cancer-predisposing syndrome [RCV000216176]|not provided [RCV000255597] Chr5:112841649..112841652 [GRCh38]
Chr5:112177346..112177349 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.889A>G (p.Thr297Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650507]|Hereditary cancer-predisposing syndrome [RCV000216281]|not provided [RCV001762498] Chr5:112815549 [GRCh38]
Chr5:112151246 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229934]|Familial adenomatous polyposis 1 [RCV003335247]|Hereditary cancer-predisposing syndrome [RCV000216288]|not specified [RCV000508021] Chr5:112838740 [GRCh38]
Chr5:112174437 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4015G>C (p.Gly1339Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515729]|Familial adenomatous polyposis 1 [RCV003650506]|Hereditary cancer-predisposing syndrome [RCV000218595]|not provided [RCV000235377] Chr5:112839609 [GRCh38]
Chr5:112175306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.947A>G (p.Tyr316Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650492]|Hereditary cancer-predisposing syndrome [RCV000218619] Chr5:112818979 [GRCh38]
Chr5:112154676 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5042C>T (p.Ser1681Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650484]|Hereditary cancer-predisposing syndrome [RCV000220997]|not provided [RCV001775684] Chr5:112840636 [GRCh38]
Chr5:112176333 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5292G>C (p.Gln1764His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519739]|Hereditary cancer-predisposing syndrome [RCV000221135]|not provided [RCV001762500] Chr5:112840886 [GRCh38]
Chr5:112176583 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8140C>T (p.Arg2714Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650483]|Hereditary cancer-predisposing syndrome [RCV000222746] Chr5:112843734 [GRCh38]
Chr5:112179431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3765C>A (p.Asn1255Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222792] Chr5:112839359 [GRCh38]
Chr5:112175056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4939A>T (p.Thr1647Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765428]|Hereditary cancer-predisposing syndrome [RCV000222795] Chr5:112840533 [GRCh38]
Chr5:112176230 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1534G>A (p.Asp512Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650486]|Hereditary cancer-predisposing syndrome [RCV000222799] Chr5:112827233 [GRCh38]
Chr5:112162930 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5192C>G (p.Ala1731Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519703]|Familial adenomatous polyposis 1 [RCV003743660]|Hereditary cancer-predisposing syndrome [RCV000222801] Chr5:112840786 [GRCh38]
Chr5:112176483 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6248T>C (p.Ile2083Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462470]|Hereditary cancer-predisposing syndrome [RCV000222823]|not provided [RCV001812634]|not specified [RCV001420919] Chr5:112841842 [GRCh38]
Chr5:112177539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+494C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209044] Chr5:112829466 [GRCh38]
Chr5:112165163 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+1592A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209049] Chr5:112739517 [GRCh38]
Chr5:112075214 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+691A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209055] Chr5:112781594 [GRCh38]
Chr5:112117291 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+985A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209082] Chr5:112738910 [GRCh38]
Chr5:112074607 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+636G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209111] Chr5:112708518 [GRCh38]
Chr5:112044215 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.835-452G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209124] Chr5:112815043 [GRCh38]
Chr5:112150740 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+1150C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209136] Chr5:112756175 [GRCh38]
Chr5:112091872 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.729+183C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209143]|not provided [RCV000837384] Chr5:112792712 [GRCh38]
Chr5:112128409 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-208A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209188] Chr5:112827721 [GRCh38]
Chr5:112163418 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+646A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209208] Chr5:112781549 [GRCh38]
Chr5:112117246 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.835-259A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209231] Chr5:112815236 [GRCh38]
Chr5:112150933 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+6497A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209241] Chr5:112744422 [GRCh38]
Chr5:112080119 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+968C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209277] Chr5:112738893 [GRCh38]
Chr5:112074590 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+2392A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209512] Chr5:112740317 [GRCh38]
Chr5:112076014 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+655A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209614] Chr5:112781558 [GRCh38]
Chr5:112117255 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+25G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209666] Chr5:112707907 [GRCh38]
Chr5:112043604 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+208C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209705] Chr5:112766618 [GRCh38]
Chr5:112102315 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1538T>C (p.Val513Ala) single nucleotide variant Desmoid disease, hereditary [RCV002494580]|Familial adenomatous polyposis 1 [RCV003468982]|Hereditary cancer-predisposing syndrome [RCV000214545]|not provided [RCV001753652] Chr5:112827237 [GRCh38]
Chr5:112162934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3211C>T (p.Gln1071Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515653]|Familial adenomatous polyposis 1 [RCV003534530]|Hereditary cancer-predisposing syndrome [RCV000214546]|not provided [RCV000758728] Chr5:112838805 [GRCh38]
Chr5:112174502 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) single nucleotide variant Duodenal adenocarcinoma [RCV000677741]|Familial adenomatous polyposis 1 [RCV000474515]|Familial adenomatous polyposis 1 [RCV003650490]|Hereditary cancer-predisposing syndrome [RCV000214596]|Rectum adenocarcinoma [RCV000677742]|not provided [RCV000657144]|not specified [RCV000483692] Chr5:112837578 [GRCh38]
Chr5:112173275 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7284A>G (p.Glu2428=) single nucleotide variant APC-related condition [RCV003407747]|Familial adenomatous polyposis 1 [RCV003534499]|Hereditary cancer-predisposing syndrome [RCV000214601]|not specified [RCV000605613] Chr5:112842878 [GRCh38]
Chr5:112178575 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6322G>A (p.Ala2108Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743673]|Hereditary cancer-predisposing syndrome [RCV000214636] Chr5:112841916 [GRCh38]
Chr5:112177613 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.735A>G (p.Ser245=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519695]|Hereditary cancer-predisposing syndrome [RCV000216353]|not provided [RCV003430775] Chr5:112801284 [GRCh38]
Chr5:112136981 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.358A>C (p.Arg120=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218846] Chr5:112767326 [GRCh38]
Chr5:112103023 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.481C>T (p.Gln161Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229926]|Familial adenomatous polyposis 1 [RCV003765401]|Hereditary cancer-predisposing syndrome [RCV000221156]|not provided [RCV001269625] Chr5:112775687 [GRCh38]
Chr5:112111384 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2879_2883del (p.Ser959_Ser960insTer) deletion Hereditary cancer-predisposing syndrome [RCV000221207] Chr5:112838472..112838476 [GRCh38]
Chr5:112174169..112174173 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2775C>T (p.Ser925=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765408]|Hereditary cancer-predisposing syndrome [RCV000221220]|not specified [RCV000780855] Chr5:112838369 [GRCh38]
Chr5:112174066 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5224C>T (p.Arg1742Cys) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151698]|Familial adenomatous polyposis 1 [RCV003534511]|Hereditary cancer-predisposing syndrome [RCV000221281]|not provided [RCV000487040] Chr5:112840818 [GRCh38]
Chr5:112176515 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1553C>T (p.Thr518Met) single nucleotide variant Desmoid disease, hereditary [RCV000764560]|Familial adenomatous polyposis 1 [RCV000461223]|Familial adenomatous polyposis 1 [RCV003650489]|Hereditary cancer-predisposing syndrome [RCV000221284]|not provided [RCV001284232] Chr5:112827933 [GRCh38]
Chr5:112163630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7715C>G (p.Ser2572Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743658]|Familial multiple polyposis syndrome [RCV000825577]|Hereditary cancer-predisposing syndrome [RCV000222855] Chr5:112843309 [GRCh38]
Chr5:112179006 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6522T>C (p.Ser2174=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743672]|Hereditary cancer-predisposing syndrome [RCV000222913] Chr5:112842116 [GRCh38]
Chr5:112177813 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335256]|Hereditary cancer-predisposing syndrome [RCV000222920] Chr5:112835109 [GRCh38]
Chr5:112170806 [GRCh37]
Chr5:5q22.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1743+5C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000813144]|Familial adenomatous polyposis 1 [RCV003534502]|Hereditary cancer-predisposing syndrome [RCV000222937]|not provided [RCV000482447] Chr5:112828977 [GRCh38]
Chr5:112164674 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance|not provided
NM_000038.6(APC):c.8233C>T (p.Pro2745Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229923]|Hereditary cancer-predisposing syndrome [RCV000222943] Chr5:112843827 [GRCh38]
Chr5:112179524 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7932T>C (p.Ile2644=) single nucleotide variant APC-related condition [RCV003897490]|Familial adenomatous polyposis 1 [RCV002229246]|Hereditary cancer-predisposing syndrome [RCV000222958]|not provided [RCV001682933] Chr5:112843526 [GRCh38]
Chr5:112179223 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8501A>C (p.His2834Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000767385]|Hereditary cancer-predisposing syndrome [RCV001185869] Chr5:112844095 [GRCh38]
Chr5:112179792 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+2773C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209293] Chr5:112770163 [GRCh38]
Chr5:112105860 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+46T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209300] Chr5:112819390 [GRCh38]
Chr5:112155087 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-1462G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209318] Chr5:112790984 [GRCh38]
Chr5:112126681 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-18-93T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209341] Chr5:112754780 [GRCh38]
Chr5:112090477 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1743+959C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209364] Chr5:112829931 [GRCh38]
Chr5:112165628 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934-219A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209377] Chr5:112818747 [GRCh38]
Chr5:112154444 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+126G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209388] Chr5:112835291 [GRCh38]
Chr5:112170988 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+370A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209402] Chr5:112708252 [GRCh38]
Chr5:112043949 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+22164T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209423] Chr5:112730046 [GRCh38]
Chr5:112065743 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-18-112A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209439] Chr5:112754761 [GRCh38]
Chr5:112090458 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-18-931T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209445] Chr5:112753942 [GRCh38]
Chr5:112089639 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-18-1815T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209473] Chr5:112753058 [GRCh38]
Chr5:112088755 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934-1409A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209528] Chr5:112817557 [GRCh38]
Chr5:112153254 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1743+1075A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209557] Chr5:112830047 [GRCh38]
Chr5:112165744 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+915C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209560] Chr5:112708797 [GRCh38]
Chr5:112044494 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.729+4358G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209809] Chr5:112796887 [GRCh38]
Chr5:112132584 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8513dup (p.Tyr2838Ter) duplication Colorectal cancer, susceptibility to [RCV000210080]|Familial adenomatous polyposis 1 [RCV003650468]|Hereditary cancer-predisposing syndrome [RCV002286721] Chr5:112844106..112844107 [GRCh38]
Chr5:112179803..112179804 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.4110A>T (p.Lys1370Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535595]|Hereditary cancer-predisposing syndrome [RCV000214680]|not provided [RCV001762503]|not specified [RCV002298543] Chr5:112839704 [GRCh38]
Chr5:112175401 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2859A>G (p.Lys953=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000214729] Chr5:112838453 [GRCh38]
Chr5:112174150 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.568_569dup (p.Tyr191fs) duplication Hereditary cancer-predisposing syndrome [RCV000214782] Chr5:112780825..112780826 [GRCh38]
Chr5:112116522..112116523 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3067dup (p.Thr1023fs) duplication Carcinoma of colon [RCV000500122]|Familial adenomatous polyposis 1 [RCV003534510]|Hereditary cancer-predisposing syndrome [RCV000214795] Chr5:112838660..112838661 [GRCh38]
Chr5:112174357..112174358 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.6128T>A (p.Ile2043Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216471] Chr5:112841722 [GRCh38]
Chr5:112177419 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8235T>C (p.Pro2745=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650470]|Hereditary cancer-predisposing syndrome [RCV000218883] Chr5:112843829 [GRCh38]
Chr5:112179526 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000457479]|Hereditary cancer-predisposing syndrome [RCV000218908]|not provided [RCV003126614]|not specified [RCV001797685] Chr5:112840972 [GRCh38]
Chr5:112176669 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4146C>G (p.Leu1382=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650474]|Hereditary cancer-predisposing syndrome [RCV000218917]|not provided [RCV001722177] Chr5:112839740 [GRCh38]
Chr5:112175437 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5956C>A (p.Pro1986Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534503]|Hereditary cancer-predisposing syndrome [RCV000221302]|not provided [RCV001753659] Chr5:112841550 [GRCh38]
Chr5:112177247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1124del (p.Gly375fs) deletion Familial adenomatous polyposis 1 [RCV002518265]|Familial adenomatous polyposis 1 [RCV003743649]|Hereditary cancer-predisposing syndrome [RCV000221309] Chr5:112819153 [GRCh38]
Chr5:112154850 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6866C>T (p.Thr2289Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743677]|Hereditary cancer-predisposing syndrome [RCV000221312] Chr5:112842460 [GRCh38]
Chr5:112178157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.266C>G (p.Ser89Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000767384]|Familial adenomatous polyposis 1 [RCV003335248]|Familial adenomatous polyposis 1 [RCV003650480]|Hereditary cancer-predisposing syndrome [RCV000221332] Chr5:112767234 [GRCh38]
Chr5:112102931 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4705G>A (p.Asp1569Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221336] Chr5:112840299 [GRCh38]
Chr5:112175996 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5479C>T (p.Leu1827Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650500]|Hereditary cancer-predisposing syndrome [RCV000221348]|not provided [RCV001775693] Chr5:112841073 [GRCh38]
Chr5:112176770 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8515C>T (p.Leu2839Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534498]|Hereditary cancer-predisposing syndrome [RCV000221389] Chr5:112844109 [GRCh38]
Chr5:112179806 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8212A>G (p.Ile2738Val) single nucleotide variant APC-Associated Polyposis Disorders [RCV000379852]|Familial adenomatous polyposis 1 [RCV003475012]|Hereditary cancer-predisposing syndrome [RCV000221398]|not provided [RCV000487304] Chr5:112843806 [GRCh38]
Chr5:112179503 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5399A>G (p.Asn1800Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV000301591]|Familial adenomatous polyposis 1 [RCV003535587]|Hereditary cancer-predisposing syndrome [RCV000221421]|not provided [RCV000485570] Chr5:112840993 [GRCh38]
Chr5:112176690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6281del (p.Pro2094fs) deletion Familial adenomatous polyposis 1 [RCV003335266]|Hereditary cancer-predisposing syndrome [RCV000221437]|not provided [RCV000485175] Chr5:112841872 [GRCh38]
Chr5:112177569 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5362C>T (p.Arg1788Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515728]|Familial adenomatous polyposis 1 [RCV003650505]|Hereditary cancer-predisposing syndrome [RCV000221440]|not provided [RCV003325473] Chr5:112840956 [GRCh38]
Chr5:112176653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1240C>A (p.Arg414Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515645]|Familial adenomatous polyposis 1 [RCV003534529]|Hereditary cancer-predisposing syndrome [RCV000223120]|not provided [RCV003488475] Chr5:112819272 [GRCh38]
Chr5:112154969 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3182A>G (p.Lys1061Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765416]|Hereditary cancer-predisposing syndrome [RCV000223145]|not provided [RCV001775685] Chr5:112838776 [GRCh38]
Chr5:112174473 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+1239T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209570] Chr5:112820583 [GRCh38]
Chr5:112156280 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+778G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209575] Chr5:112820122 [GRCh38]
Chr5:112155819 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+1262T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209602] Chr5:112823253 [GRCh38]
Chr5:112158950 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+679T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209624] Chr5:112738604 [GRCh38]
Chr5:112074301 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-1104T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209632] Chr5:112791342 [GRCh38]
Chr5:112127039 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-320T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209644] Chr5:112826788 [GRCh38]
Chr5:112162485 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+16249G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209680] Chr5:112724131 [GRCh38]
Chr5:112059828 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-1437A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209710] Chr5:112791009 [GRCh38]
Chr5:112126706 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+310G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209736] Chr5:112738235 [GRCh38]
Chr5:112073932 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+163C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209752] Chr5:112819507 [GRCh38]
Chr5:112155204 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+434T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209770] Chr5:112708316 [GRCh38]
Chr5:112044013 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1959-121A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209774] Chr5:112837432 [GRCh38]
Chr5:112173129 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.562C>T (p.Gln188Ter) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210089]|Familial adenomatous polyposis 1 [RCV003337252]|not provided [RCV000501976] Chr5:112780820 [GRCh38]
Chr5:112116517 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.920A>T (p.His307Leu) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210127]|Familial adenomatous polyposis 1 [RCV003743642]|Hereditary cancer-predisposing syndrome [RCV003165518] Chr5:112815580 [GRCh38]
Chr5:112151277 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7235A>G (p.Lys2412Arg) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210156]|Familial adenomatous polyposis 1 [RCV000211508]|Familial adenomatous polyposis 1 [RCV003743641]|Hereditary cancer-predisposing syndrome [RCV003165517] Chr5:112842829 [GRCh38]
Chr5:112178526 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3080A>G (p.Tyr1027Cys) single nucleotide variant Colorectal cancer, susceptibility to [RCV000210203]|Familial adenomatous polyposis 1 [RCV003743640]|Hereditary cancer-predisposing syndrome [RCV000562346] Chr5:112838674 [GRCh38]
Chr5:112174371 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7495G>C (p.Val2499Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765411]|Hereditary cancer [RCV003491971]|Hereditary cancer-predisposing syndrome [RCV000214829]|not provided [RCV000758745] Chr5:112843089 [GRCh38]
Chr5:112178786 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7889T>C (p.Val2630Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515724]|Hereditary cancer-predisposing syndrome [RCV000214879]|not provided [RCV003137827] Chr5:112843483 [GRCh38]
Chr5:112179180 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4043G>C (p.Arg1348Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765404]|Hereditary cancer-predisposing syndrome [RCV000216633]|not provided [RCV000985301] Chr5:112839637 [GRCh38]
Chr5:112175334 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4365T>C (p.Asn1455=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534528]|Hereditary cancer-predisposing syndrome [RCV000216634] Chr5:112839959 [GRCh38]
Chr5:112175656 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5033_5035del (p.Gly1678del) deletion Hereditary cancer-predisposing syndrome [RCV000216636] Chr5:112840626..112840628 [GRCh38]
Chr5:112176323..112176325 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7731A>G (p.Ser2577=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535571]|Hereditary cancer-predisposing syndrome [RCV000216649]|not provided [RCV000679086]|not specified [RCV000420353] Chr5:112843325 [GRCh38]
Chr5:112179022 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.2105G>A (p.Gly702Glu) single nucleotide variant Carcinoma of colon [RCV000503730]|Familial adenomatous polyposis 1 [RCV000646256]|Familial adenomatous polyposis 1 [RCV003316197]|Familial adenomatous polyposis 1 [RCV003743646]|Hereditary cancer-predisposing syndrome [RCV000216688] Chr5:112837699 [GRCh38]
Chr5:112173396 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.1163ACA[1] (p.Asn389del) microsatellite Hereditary cancer-predisposing syndrome [RCV000216755] Chr5:112819195..112819197 [GRCh38]
Chr5:112154892..112154894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4074G>T (p.Ala1358=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534508]|Hereditary cancer-predisposing syndrome [RCV000216763] Chr5:112839668 [GRCh38]
Chr5:112175365 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4441G>T (p.Val1481Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535583]|Hereditary cancer-predisposing syndrome [RCV000219096] Chr5:112840035 [GRCh38]
Chr5:112175732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5866A>T (p.Ile1956Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515706]|Familial adenomatous polyposis 1 [RCV003535581]|Hereditary cancer-predisposing syndrome [RCV000219156] Chr5:112841460 [GRCh38]
Chr5:112177157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3925_3928del (p.Glu1309fs) deletion Familial adenomatous polyposis 1 [RCV003337257]|Hereditary cancer-predisposing syndrome [RCV000221539]|not provided [RCV001268526] Chr5:112839516..112839519 [GRCh38]
Chr5:112175213..112175216 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.3932T>G (p.Ile1311Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534519]|Hereditary cancer-predisposing syndrome [RCV000223153] Chr5:112839526 [GRCh38]
Chr5:112175223 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5539A>G (p.Thr1847Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000223205] Chr5:112841133 [GRCh38]
Chr5:112176830 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4139C>T (p.Thr1380Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743680]|Hereditary cancer-predisposing syndrome [RCV000223239]|not provided [RCV000522947] Chr5:112839733 [GRCh38]
Chr5:112175430 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.5104G>A (p.Gly1702Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000223252]|not provided [RCV000236162] Chr5:112840698 [GRCh38]
Chr5:112176395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.772G>C (p.Glu258Gln) single nucleotide variant APC-Associated Polyposis Disorders [RCV001156937]|Familial adenomatous polyposis 1 [RCV003743644]|Hereditary cancer-predisposing syndrome [RCV000223284] Chr5:112801321 [GRCh38]
Chr5:112137018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8238C>T (p.Val2746=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767160]|Hereditary cancer-predisposing syndrome [RCV000561713] Chr5:112843832 [GRCh38]
Chr5:112179529 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+19920A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209818] Chr5:112727802 [GRCh38]
Chr5:112063499 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28546T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003765354]|Hereditary cancer-predisposing syndrome [RCV000208994]|not specified [RCV000615963] Chr5:112737780 [GRCh38]
Chr5:112073477 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4811C>G (p.Pro1604Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002515664]|Familial adenomatous polyposis 1 [RCV003650493]|Hereditary cancer-predisposing syndrome [RCV000214966]|not provided [RCV003318564] Chr5:112840405 [GRCh38]
Chr5:112176102 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4986C>T (p.Ile1662=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534512]|Hereditary cancer-predisposing syndrome [RCV000215035]|not provided [RCV001589146]|not specified [RCV002465570] Chr5:112840580 [GRCh38]
Chr5:112176277 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5524T>A (p.Ser1842Thr) single nucleotide variant APC-Associated Polyposis Disorders [RCV000271229]|APC-related condition [RCV003947727]|Familial adenomatous polyposis 1 [RCV002515673]|Hereditary cancer-predisposing syndrome [RCV000215089]|not provided [RCV000235925] Chr5:112841118 [GRCh38]
Chr5:112176815 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1873C>T (p.Gln625Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337256]|Familial multiple polyposis syndrome [RCV001194208]|Hereditary cancer-predisposing syndrome [RCV000215115]|not provided [RCV000520225] Chr5:112835080 [GRCh38]
Chr5:112170777 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2002C>T (p.His668Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535582]|Hereditary cancer-predisposing syndrome [RCV000216789] Chr5:112837596 [GRCh38]
Chr5:112173293 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7883A>G (p.Gln2628Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216799] Chr5:112843477 [GRCh38]
Chr5:112179174 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7412C>T (p.Pro2471Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650472]|Hereditary cancer-predisposing syndrome [RCV000216831] Chr5:112843006 [GRCh38]
Chr5:112178703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5465T>G (p.Val1822Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002229236]|Hereditary cancer-predisposing syndrome [RCV000216852]|not specified [RCV000589084] Chr5:112841059 [GRCh38]
Chr5:112176756 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2570del (p.Gly857fs) deletion Carcinoma of colon [RCV000502529]|Familial adenomatous polyposis 1 [RCV003337253]|Hereditary cancer-predisposing syndrome [RCV000216864] Chr5:112838163 [GRCh38]
Chr5:112173860 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6896C>T (p.Pro2299Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003469015]|Hereditary cancer-predisposing syndrome [RCV000216868]|not provided [RCV000758739]|not specified [RCV002307450] Chr5:112842490 [GRCh38]
Chr5:112178187 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6006T>G (p.Pro2002=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534505]|Hereditary cancer-predisposing syndrome [RCV000219241]|not provided [RCV001540650] Chr5:112841600 [GRCh38]
Chr5:112177297 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7615C>T (p.Leu2539Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516177]|Familial adenomatous polyposis 1 [RCV003535594]|Hereditary cancer-predisposing syndrome [RCV000219275]|not specified [RCV000508556] Chr5:112843209 [GRCh38]
Chr5:112178906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.280C>G (p.Arg94Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000700669]|Familial adenomatous polyposis 1 [RCV003650482]|Hereditary cancer-predisposing syndrome [RCV000221637] Chr5:112767248 [GRCh38]
Chr5:112102945 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2091A>G (p.Ala697=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650485]|Hereditary cancer-predisposing syndrome [RCV000221661]|not specified [RCV000434249] Chr5:112837685 [GRCh38]
Chr5:112173382 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6413T>G (p.Leu2138Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221728] Chr5:112842007 [GRCh38]
Chr5:112177704 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3403T>C (p.Tyr1135His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650504]|Hereditary cancer-predisposing syndrome [RCV000223311] Chr5:112838997 [GRCh38]
Chr5:112174694 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2485A>G (p.Thr829Ala) single nucleotide variant APC-related condition [RCV003422123]|Familial adenomatous polyposis 1 [RCV002519701]|Familial adenomatous polyposis 1 [RCV003535570]|Hereditary cancer-predisposing syndrome [RCV000223345]|not provided [RCV000766315]|not specified [RCV000480119] Chr5:112838079 [GRCh38]
Chr5:112173776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6614C>T (p.Ser2205Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650494]|Hereditary cancer-predisposing syndrome [RCV000223368]|not provided [RCV003236790] Chr5:112842208 [GRCh38]
Chr5:112177905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7893C>T (p.Ser2631=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650491]|Hereditary cancer-predisposing syndrome [RCV000223457]|not specified [RCV000426694] Chr5:112843487 [GRCh38]
Chr5:112179184 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2978A>C (p.Lys993Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767167]|Hereditary cancer-predisposing syndrome [RCV000561970] Chr5:112838572 [GRCh38]
Chr5:112174269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-139G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002528468] Chr5:112707579 [GRCh38]
Chr5:112043276 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1705G>A (p.Val569Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518259]|Familial adenomatous polyposis 1 [RCV003650476]|Hereditary cancer-predisposing syndrome [RCV000215154] Chr5:112828934 [GRCh38]
Chr5:112164631 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5877T>G (p.Thr1959=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000215212] Chr5:112841471 [GRCh38]
Chr5:112177168 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6201T>C (p.Asn2067=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534524]|Hereditary cancer-predisposing syndrome [RCV000215240] Chr5:112841795 [GRCh38]
Chr5:112177492 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7388A>C (p.Glu2463Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535577]|Hereditary cancer-predisposing syndrome [RCV000215258] Chr5:112842982 [GRCh38]
Chr5:112178679 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2719G>A (p.Gly907Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765426]|Hereditary cancer-predisposing syndrome [RCV000216931]|not provided [RCV000235531] Chr5:112838313 [GRCh38]
Chr5:112174010 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6127A>G (p.Ile2043Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650502]|Hereditary cancer-predisposing syndrome [RCV000217035]|not provided [RCV001284244]|not specified [RCV000780836] Chr5:112841721 [GRCh38]
Chr5:112177418 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1333C>G (p.Gln445Glu) single nucleotide variant Desmoid disease, hereditary [RCV002494587]|Familial adenomatous polyposis 1 [RCV003475011]|Hereditary cancer-predisposing syndrome [RCV000217057]|not provided [RCV000585258] Chr5:112821916 [GRCh38]
Chr5:112157613 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2898T>C (p.Ser966=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765439]|Hereditary cancer-predisposing syndrome [RCV000219339] Chr5:112838492 [GRCh38]
Chr5:112174189 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2557G>A (p.Glu853Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000219410] Chr5:112838151 [GRCh38]
Chr5:112173848 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3964G>A (p.Glu1322Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535575]|Hereditary cancer-predisposing syndrome [RCV000219449]|not provided [RCV000485020]|not specified [RCV001818536] Chr5:112839558 [GRCh38]
Chr5:112175255 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6573A>G (p.Gly2191=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743645]|Hereditary cancer-predisposing syndrome [RCV000219455]|not provided [RCV001582741] Chr5:112842167 [GRCh38]
Chr5:112177864 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3552C>T (p.Ala1184=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000229596]|Familial adenomatous polyposis 1 [RCV003316237]|Hereditary cancer-predisposing syndrome [RCV000575208] Chr5:112839146 [GRCh38]
Chr5:112174843 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.5(APC):c.934-?_*2113+?del deletion Familial adenomatous polyposis 1 [RCV000229687]   pathogenic
NM_000038.6(APC):c.7136C>T (p.Thr2379Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535639]|Hereditary cancer-predisposing syndrome [RCV001026077] Chr5:112842730 [GRCh38]
Chr5:112178427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1005A>C (p.Leu335=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650513]|Hereditary cancer-predisposing syndrome [RCV000561035] Chr5:112819037 [GRCh38]
Chr5:112154734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5264C>T (p.Ala1755Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535624]|Hereditary cancer-predisposing syndrome [RCV000572688]|Ovarian cancer [RCV003153519]|not provided [RCV000485173]|not specified [RCV002465578] Chr5:112840858 [GRCh38]
Chr5:112176555 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7443T>A (p.Thr2481=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535642]|Hereditary cancer-predisposing syndrome [RCV000569491]|not provided [RCV000842241]|not specified [RCV000506206] Chr5:112843037 [GRCh38]
Chr5:112178734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) single nucleotide variant Carcinoma of colon [RCV001353812]|Familial adenomatous polyposis 1 [RCV002516270]|Familial adenomatous polyposis 1 [RCV003335272]|Familial multiple polyposis syndrome [RCV000501152]|Hereditary cancer-predisposing syndrome [RCV000491362]|Lung adenocarcinoma [RCV000434269]|Neoplasm of the large intestine [RCV000424284]|not provided [RCV001723814] Chr5:112838934 [GRCh38]
Chr5:112174631 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7395T>C (p.Leu2465=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535641]|Hereditary cancer-predisposing syndrome [RCV000567583]|not provided [RCV000758742]|not specified [RCV000419288] Chr5:112842989 [GRCh38]
Chr5:112178686 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.14C>T (p.Ser5Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516259]|Familial adenomatous polyposis 1 [RCV003535598]|Hereditary cancer-predisposing syndrome [RCV000775115]|not provided [RCV000589294] Chr5:112754904 [GRCh38]
Chr5:112090601 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4717del (p.Glu1573fs) deletion Familial adenomatous polyposis 1 [RCV000225339] Chr5:112840311 [GRCh38]
Chr5:112176008 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.757G>A (p.Gly253Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV001156936]|Colon cancer [RCV000677749]|Familial adenomatous polyposis 1 [RCV000229496]|Familial adenomatous polyposis 1 [RCV003316239]|Hereditary cancer-predisposing syndrome [RCV000562662]|not provided [RCV003477779]|not specified [RCV001193538] Chr5:112801306 [GRCh38]
Chr5:112137003 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6610C>T (p.Arg2204Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335275]|Familial adenomatous polyposis 1 [RCV003650534]|Hereditary cancer-predisposing syndrome [RCV002372241]|not provided [RCV000508240] Chr5:112842204 [GRCh38]
Chr5:112177901 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2795C>G (p.Ser932Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335270] Chr5:112838389 [GRCh38]
Chr5:112174086 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3743C>T (p.Thr1248Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535610]|Hereditary cancer-predisposing syndrome [RCV000564682]|not provided [RCV000479944] Chr5:112839337 [GRCh38]
Chr5:112175034 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4768A>G (p.Lys1590Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000226154]|Familial adenomatous polyposis 1 [RCV003650526]|Hereditary cancer-predisposing syndrome [RCV001023012]|not provided [RCV003114393] Chr5:112840362 [GRCh38]
Chr5:112176059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3407A>C (p.Glu1136Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535609]|Hereditary cancer-predisposing syndrome [RCV000562770] Chr5:112839001 [GRCh38]
Chr5:112174698 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8518G>A (p.Val2840Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV000226457]|Hereditary cancer-predisposing syndrome [RCV000772143] Chr5:112844112 [GRCh38]
Chr5:112179809 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2725A>G (p.Thr909Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516267]|Familial adenomatous polyposis 1 [RCV003650519]|Hereditary cancer-predisposing syndrome [RCV000565184]|not provided [RCV000767033]|not specified [RCV000486036] Chr5:112838319 [GRCh38]
Chr5:112174016 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5695G>C (p.Glu1899Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535628] Chr5:112841289 [GRCh38]
Chr5:112176986 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5282A>C (p.Asn1761Thr) single nucleotide variant Desmoid disease, hereditary [RCV002487043]|Familial adenomatous polyposis 1 [RCV000230741]|Familial adenomatous polyposis 1 [RCV003650530]|Hereditary cancer-predisposing syndrome [RCV000573026]|not provided [RCV000586532] Chr5:112840876 [GRCh38]
Chr5:112176573 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3081T>C (p.Tyr1027=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650522]|Hereditary cancer-predisposing syndrome [RCV000581057] Chr5:112838675 [GRCh38]
Chr5:112174372 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2069G>A (p.Arg690Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535603]|Hereditary cancer-predisposing syndrome [RCV001192193] Chr5:112837663 [GRCh38]
Chr5:112173360 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.505A>G (p.Ile169Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650529]|Hereditary cancer-predisposing syndrome [RCV000562601] Chr5:112775711 [GRCh38]
Chr5:112111408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000227563]|Familial adenomatous polyposis 1 [RCV003535645]|Hereditary cancer-predisposing syndrome [RCV000582018]|not provided [RCV001559106]|not specified [RCV001731536] Chr5:112843416 [GRCh38]
Chr5:112179113 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
chr5:112154359-112155228 complex variant complex Colorectal cancer, susceptibility to [RCV000210207] Chr5:112154359..112155228 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5909G>C (p.Ser1970Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535629] Chr5:112841503 [GRCh38]
Chr5:112177200 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7109G>T (p.Gly2370Val) single nucleotide variant APC-related condition [RCV003977640]|Familial adenomatous polyposis 1 [RCV000232680]|Hereditary cancer-predisposing syndrome [RCV000569669]|not provided [RCV001705238]|not specified [RCV000236405] Chr5:112842703 [GRCh38]
Chr5:112178400 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7793C>A (p.Thr2598Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650539]|Hereditary cancer-predisposing syndrome [RCV000563888]|not provided [RCV000766657]|not specified [RCV000235712] Chr5:112843387 [GRCh38]
Chr5:112179084 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.5(APC):c.-85_*2113del deletion Familial adenomatous polyposis 1 [RCV000232813] Chr5:112737859..112846239 [GRCh38]
Chr5:112073556..112181936 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3196del (p.Arg1066fs) deletion Familial adenomatous polyposis 1 [RCV002516269]|Familial adenomatous polyposis 1 [RCV003535607]|not provided [RCV001284351] Chr5:112838788 [GRCh38]
Chr5:112174485 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6168C>G (p.Leu2056=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650533]|Hereditary cancer-predisposing syndrome [RCV000771278]|not provided [RCV001284245] Chr5:112841762 [GRCh38]
Chr5:112177459 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7915G>C (p.Glu2639Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535646] Chr5:112843509 [GRCh38]
Chr5:112179206 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2492T>C (p.Leu831Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650518]|Hereditary cancer-predisposing syndrome [RCV002429085] Chr5:112838086 [GRCh38]
Chr5:112173783 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5348C>T (p.Thr1783Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535626]|Hereditary cancer-predisposing syndrome [RCV001177148]|not specified [RCV001844094] Chr5:112840942 [GRCh38]
Chr5:112176639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4701del (p.Asp1568fs) deletion Familial adenomatous polyposis 1 [RCV003535619] Chr5:112840295 [GRCh38]
Chr5:112175992 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6785G>T (p.Ser2262Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535636]|Hereditary cancer-predisposing syndrome [RCV000581040] Chr5:112842379 [GRCh38]
Chr5:112178076 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.747G>A (p.Lys249=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535643]|Hereditary cancer-predisposing syndrome [RCV000564497]|not provided [RCV000842426] Chr5:112801296 [GRCh38]
Chr5:112136993 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2228T>G (p.Met743Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650517]|Hereditary cancer-predisposing syndrome [RCV003278708] Chr5:112837822 [GRCh38]
Chr5:112173519 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2568C>T (p.Arg856=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535604]|Hereditary cancer-predisposing syndrome [RCV000563734]|not provided [RCV001172163] Chr5:112838162 [GRCh38]
Chr5:112173859 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.764A>G (p.His255Arg) single nucleotide variant APC-related condition [RCV003401163]|Familial adenomatous polyposis 1 [RCV003535644]|Hereditary cancer-predisposing syndrome [RCV000574604]|not provided [RCV001699072]|not specified [RCV001192799] Chr5:112801313 [GRCh38]
Chr5:112137010 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.277C>G (p.Leu93Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000233150]|Familial adenomatous polyposis 1 [RCV002229774]|Familial adenomatous polyposis 1 [RCV003743684]|Hereditary cancer-predisposing syndrome [RCV000491761]|not provided [RCV000657055]|not specified [RCV001818550] Chr5:112767245 [GRCh38]
Chr5:112102942 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4963A>G (p.Thr1655Ala) single nucleotide variant Desmoid disease, hereditary [RCV002487042]|Familial adenomatous polyposis 1 [RCV000233240]|Familial adenomatous polyposis 1 [RCV003650527]|Hereditary cancer-predisposing syndrome [RCV000567766]|not provided [RCV000590193] Chr5:112840557 [GRCh38]
Chr5:112176254 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8255A>C (p.Asn2752Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650540] Chr5:112843849 [GRCh38]
Chr5:112179546 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.4650G>T (p.Glu1550Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535617] Chr5:112840244 [GRCh38]
Chr5:112175941 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2765T>G (p.Leu922Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650520]|Hereditary cancer-predisposing syndrome [RCV000772151] Chr5:112838359 [GRCh38]
Chr5:112174056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.191G>A (p.Gly64Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535600] Chr5:112766381 [GRCh38]
Chr5:112102078 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2807A>G (p.Asn936Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650521] Chr5:112838401 [GRCh38]
Chr5:112174098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5917del (p.Ser1973fs) deletion Familial adenomatous polyposis 1 [RCV000229708]|Familial adenomatous polyposis 1 [RCV003535630]|Hereditary cancer-predisposing syndrome [RCV002354627] Chr5:112841511 [GRCh38]
Chr5:112177208 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.849A>G (p.Arg283=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516301]|Hereditary cancer-predisposing syndrome [RCV001017912] Chr5:112815509 [GRCh38]
Chr5:112151206 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5031A>G (p.Gly1677=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516280] Chr5:112840625 [GRCh38]
Chr5:112176322 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1866_1867delinsAT (p.Tyr622_Arg623delinsTer) indel Familial adenomatous polyposis 1 [RCV000229977] Chr5:112835073..112835074 [GRCh38]
Chr5:112170770..112170771 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.476dup (p.Tyr159Ter) duplication Familial adenomatous polyposis 1 [RCV000229992]|Familial adenomatous polyposis 1 [RCV003535620]|Hereditary cancer-predisposing syndrome [RCV002338700]|not provided [RCV000486696] Chr5:112775681..112775682 [GRCh38]
Chr5:112111378..112111379 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.3804A>G (p.Pro1268=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987569]|Familial adenomatous polyposis 1 [RCV003535611]|Hereditary cancer-predisposing syndrome [RCV000772156] Chr5:112839398 [GRCh38]
Chr5:112175095 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6931A>G (p.Arg2311Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650537]|Hereditary cancer-predisposing syndrome [RCV000580147] Chr5:112842525 [GRCh38]
Chr5:112178222 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.606A>G (p.Glu202=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535632]|Hereditary cancer-predisposing syndrome [RCV001183556] Chr5:112780864 [GRCh38]
Chr5:112116561 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4505G>T (p.Cys1502Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535615] Chr5:112840099 [GRCh38]
Chr5:112175796 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.71G>A (p.Arg24Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535640] Chr5:112754961 [GRCh38]
Chr5:112090658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1205G>A (p.Arg402His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516257]|Hereditary cancer-predisposing syndrome [RCV001010300]|not provided [RCV000484776] Chr5:112819237 [GRCh38]
Chr5:112154934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4164T>G (p.Thr1388=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516273] Chr5:112839758 [GRCh38]
Chr5:112175455 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6310A>G (p.Ile2104Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000230641]|Familial adenomatous polyposis 1 [RCV003316238]|Hereditary cancer-predisposing syndrome [RCV000583502]|not provided [RCV001775696] Chr5:112841904 [GRCh38]
Chr5:112177601 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2031_2034del (p.Ser678fs) deletion Carcinoma of colon [RCV000500203]|Familial adenomatous polyposis 1 [RCV000230843]|Familial adenomatous polyposis 1 [RCV003535602]|Hereditary cancer-predisposing syndrome [RCV002417982]|not provided [RCV000759417] Chr5:112837622..112837625 [GRCh38]
Chr5:112173319..112173322 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.448A>T (p.Lys150Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535613]|not provided [RCV000657600] Chr5:112775654 [GRCh38]
Chr5:112111351 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3301C>T (p.Pro1101Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000231060]|Familial adenomatous polyposis 1 [RCV003535608] Chr5:112838895 [GRCh38]
Chr5:112174592 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6474C>A (p.Pro2158=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000233890]|Familial adenomatous polyposis 1 [RCV003535634]|Hereditary cancer-predisposing syndrome [RCV000565639]|not provided [RCV001284247] Chr5:112842068 [GRCh38]
Chr5:112177765 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.1483A>G (p.Ile495Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650514]|Hereditary cancer-predisposing syndrome [RCV000492015]|not specified [RCV003114392] Chr5:112827182 [GRCh38]
Chr5:112162879 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.814G>C (p.Ala272Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535647]|Hereditary cancer-predisposing syndrome [RCV001027222] Chr5:112801363 [GRCh38]
Chr5:112137060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3105G>T (p.Gln1035His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535606]|Hereditary cancer-predisposing syndrome [RCV000708638]|not provided [RCV000486957] Chr5:112838699 [GRCh38]
Chr5:112174396 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8508G>T (p.Gly2836=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650543]|Hereditary cancer-predisposing syndrome [RCV000575744]|not specified [RCV000606396] Chr5:112844102 [GRCh38]
Chr5:112179799 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3391C>T (p.Gln1131Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335273]|Hereditary cancer-predisposing syndrome [RCV000491908]|not provided [RCV000430422] Chr5:112838985 [GRCh38]
Chr5:112174682 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2669T>G (p.Val890Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535605]|Hereditary cancer-predisposing syndrome [RCV001016257] Chr5:112838263 [GRCh38]
Chr5:112173960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4776A>G (p.Lys1592=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535621]|Hereditary cancer-predisposing syndrome [RCV001023026] Chr5:112840370 [GRCh38]
Chr5:112176067 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8306A>G (p.Lys2769Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650541]|Hereditary cancer-predisposing syndrome [RCV000572285]|not provided [RCV001753683]|not specified [RCV001420830] Chr5:112843900 [GRCh38]
Chr5:112179597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1593C>G (p.Ala531=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650515]|Hereditary cancer-predisposing syndrome [RCV002399803]|not specified [RCV000419166] Chr5:112827973 [GRCh38]
Chr5:112163670 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3468A>G (p.Glu1156=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650524]|Hereditary cancer-predisposing syndrome [RCV000565809]|not provided [RCV001697252] Chr5:112839062 [GRCh38]
Chr5:112174759 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4676C>T (p.Ser1559Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650525]|Hereditary cancer-predisposing syndrome [RCV002338699] Chr5:112840270 [GRCh38]
Chr5:112175967 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6741T>C (p.Ser2247=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151802]|Familial adenomatous polyposis 1 [RCV003535635]|Hereditary cancer-predisposing syndrome [RCV000573483] Chr5:112842335 [GRCh38]
Chr5:112178032 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5981A>T (p.Asp1994Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000227428]|Familial adenomatous polyposis 1 [RCV003650532]|Hereditary cancer-predisposing syndrome [RCV000571074]|not provided [RCV001589165] Chr5:112841575 [GRCh38]
Chr5:112177272 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4533C>T (p.Leu1511=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535616]|Hereditary cancer-predisposing syndrome [RCV000568570]|not provided [RCV001705237]|not specified [RCV000418393] Chr5:112840127 [GRCh38]
Chr5:112175824 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.249del (p.Gly84fs) deletion Familial adenomatous polyposis 1 [RCV003337262]|not provided [RCV000657492] Chr5:112767217 [GRCh38]
Chr5:112102914 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.8441A>G (p.Lys2814Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650542] Chr5:112844035 [GRCh38]
Chr5:112179732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1398G>A (p.Met466Ile) single nucleotide variant APC-Associated Polyposis Disorders [RCV000367709]|Familial adenomatous polyposis 1 [RCV002519766]|Familial adenomatous polyposis 1 [RCV003535597]|Hereditary cancer-predisposing syndrome [RCV000772339] Chr5:112821981 [GRCh38]
Chr5:112157678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6809C>T (p.Ser2270Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519774]|Familial adenomatous polyposis 1 [RCV003650536]|Hereditary cancer-predisposing syndrome [RCV001025673]|not provided [RCV000236196] Chr5:112842403 [GRCh38]
Chr5:112178100 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5025dup (p.Arg1676Ter) duplication Familial adenomatous polyposis 1 [RCV000232552]|Familial adenomatous polyposis 1 [RCV003650528] Chr5:112840617..112840618 [GRCh38]
Chr5:112176314..112176315 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.595dup (p.Ala199fs) duplication Familial adenomatous polyposis 1 [RCV000232568]|Familial adenomatous polyposis 1 [RCV003535631] Chr5:112780852..112780853 [GRCh38]
Chr5:112116549..112116550 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1875_1878del (p.Asn627fs) deletion Carcinoma of colon [RCV001355311]|Familial adenomatous polyposis 1 [RCV002516261]|Familial adenomatous polyposis 1 [RCV003650516]|Hereditary cancer-predisposing syndrome [RCV001013490]|not provided [RCV000582565] Chr5:112835080..112835083 [GRCh38]
Chr5:112170777..112170780 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6932G>A (p.Arg2311Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535638] Chr5:112842526 [GRCh38]
Chr5:112178223 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2031C>T (p.Val677=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003316235]|Hereditary cancer-predisposing syndrome [RCV000561494]|not provided [RCV001711620]|not specified [RCV000247289] Chr5:112837625 [GRCh38]
Chr5:112173322 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.6775A>G (p.Lys2259Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000225815]|Familial adenomatous polyposis 1 [RCV003650535]|Hereditary cancer-predisposing syndrome [RCV000582672]|not provided [RCV000482077] Chr5:112842369 [GRCh38]
Chr5:112178066 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2855C>A (p.Ala952Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000233609]|Familial adenomatous polyposis 1 [RCV003316236]|Hereditary cancer-predisposing syndrome [RCV000491923]|not provided [RCV003227724] Chr5:112838449 [GRCh38]
Chr5:112174146 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1300G>A (p.Asp434Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535596] Chr5:112819332 [GRCh38]
Chr5:112155029 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8203G>C (p.Gly2735Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516297]|Hereditary cancer-predisposing syndrome [RCV002429086]|not specified [RCV001420802] Chr5:112843797 [GRCh38]
Chr5:112179494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.986A>G (p.Asp329Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000233604]|Hereditary cancer-predisposing syndrome [RCV000580733] Chr5:112819018 [GRCh38]
Chr5:112154715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4414G>A (p.Val1472Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000233739]|Familial adenomatous polyposis 1 [RCV003535614]|Hereditary cancer-predisposing syndrome [RCV000565330] Chr5:112840008 [GRCh38]
Chr5:112175705 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2220C>A (p.Ala740=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516263] Chr5:112837814 [GRCh38]
Chr5:112173511 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8412G>T (p.Gln2804His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535648]|Hereditary cancer-predisposing syndrome [RCV001017724] Chr5:112844006 [GRCh38]
Chr5:112179703 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2314del (p.Thr772fs) deletion Familial adenomatous polyposis 1 [RCV000234542]|Familial adenomatous polyposis 1 [RCV003337261] Chr5:112837906 [GRCh38]
Chr5:112173603 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7391C>A (p.Ser2464Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516295]|Familial adenomatous polyposis 1 [RCV003650538]|Hereditary cancer-predisposing syndrome [RCV000776318]|not provided [RCV000484267] Chr5:112842985 [GRCh38]
Chr5:112178682 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3270A>G (p.Gln1090=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650523]|Hereditary cancer-predisposing syndrome [RCV001019556] Chr5:112838864 [GRCh38]
Chr5:112174561 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1743+1G>A single nucleotide variant APC-related condition [RCV003401162]|Familial adenomatous polyposis 1 [RCV002519767]|Familial adenomatous polyposis 1 [RCV003535599]|Hereditary cancer-predisposing syndrome [RCV002399804]|not provided [RCV000484492] Chr5:112828973 [GRCh38]
Chr5:112164670 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6885A>G (p.Ser2295=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535637]|Hereditary cancer-predisposing syndrome [RCV001025758]|not provided [RCV001800583] Chr5:112842479 [GRCh38]
Chr5:112178176 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5179T>C (p.Cys1727Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535623]|Hereditary cancer-predisposing syndrome [RCV000566764]|not provided [RCV000478622]|not specified [RCV001328455] Chr5:112840773 [GRCh38]
Chr5:112176470 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5319T>C (p.Thr1773=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535625]|Hereditary cancer-predisposing syndrome [RCV000569900]|not specified [RCV000444295] Chr5:112840913 [GRCh38]
Chr5:112176610 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.468C>T (p.Asp156=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535618]|Hereditary cancer-predisposing syndrome [RCV001022898] Chr5:112775674 [GRCh38]
Chr5:112111371 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6368G>C (p.Cys2123Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535633]|Hereditary cancer-predisposing syndrome [RCV003584571]|not provided [RCV003233506] Chr5:112841962 [GRCh38]
Chr5:112177659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) single nucleotide variant APC-related condition [RCV003891805]|Familial adenomatous polyposis 1 [RCV003535627]|Hereditary cancer-predisposing syndrome [RCV000561275]|not provided [RCV000478919]|not specified [RCV001192984] Chr5:112841100 [GRCh38]
Chr5:112176797 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4783G>C (p.Ala1595Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000226553]|Familial adenomatous polyposis 1 [RCV003535622]|Hereditary cancer-predisposing syndrome [RCV002338701]|not provided [RCV002478828] Chr5:112840377 [GRCh38]
Chr5:112176074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2026A>G (p.Ile676Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002516262]|Familial adenomatous polyposis 1 [RCV003535601]|Hereditary cancer-predisposing syndrome [RCV000574116]|not provided [RCV000679050]|not specified [RCV002267974] Chr5:112837620 [GRCh38]
Chr5:112173317 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4213G>A (p.Val1405Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000227053]|Familial adenomatous polyposis 1 [RCV003535612]|Hereditary cancer-predisposing syndrome [RCV000569595]|not provided [RCV000586529] Chr5:112839807 [GRCh38]
Chr5:112175504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5708A>G (p.Asn1903Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000229356]|Familial adenomatous polyposis 1 [RCV003650531]|Hereditary cancer-predisposing syndrome [RCV000569562]|not provided [RCV000506645] Chr5:112841302 [GRCh38]
Chr5:112176999 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4987G>T (p.Glu1663Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337263]|Familial multiple polyposis syndrome [RCV002229613] Chr5:112840581 [GRCh38]
Chr5:112176278 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2651C>T (p.Ala884Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002291695]|not provided [RCV000755822] Chr5:112838245 [GRCh38]
Chr5:112173942 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5839A>C (p.Thr1947Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352261]|not provided [RCV000755823] Chr5:112841433 [GRCh38]
Chr5:112177130 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2589C>A (p.Tyr863Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768273]|not provided [RCV000756997] Chr5:112838183 [GRCh38]
Chr5:112173880 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2100dup (p.Met701fs) duplication Familial adenomatous polyposis 1 [RCV003336725]|Hereditary cancer-predisposing syndrome [RCV002424219] Chr5:112837693..112837694 [GRCh38]
Chr5:112173390..112173391 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1512T>C (p.Ala504=) single nucleotide variant not provided [RCV000756999] Chr5:112827211 [GRCh38]
Chr5:112162908 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs) deletion Desmoid disease, hereditary [RCV002507327]|not provided [RCV000757002] Chr5:112840232..112840233 [GRCh38]
Chr5:112175929..112175930 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8465G>C (p.Ser2822Thr) single nucleotide variant not provided [RCV000757003] Chr5:112844059 [GRCh38]
Chr5:112179756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8466C>A (p.Ser2822Arg) single nucleotide variant not provided [RCV000757004] Chr5:112844060 [GRCh38]
Chr5:112179757 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5741C>G (p.Ala1914Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518462]|Familial adenomatous polyposis 1 [RCV003535662]|Hereditary cancer-predisposing syndrome [RCV000567524]|not provided [RCV000235260] Chr5:112841335 [GRCh38]
Chr5:112177032 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5774C>A (p.Pro1925His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000465428]|Familial adenomatous polyposis 1 [RCV003743688]|Hereditary cancer-predisposing syndrome [RCV000561053]|not provided [RCV000235310]|not specified [RCV001193573] Chr5:112841368 [GRCh38]
Chr5:112177065 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4647del (p.Glu1550fs) deletion Familial multiple polyposis syndrome [RCV001192833]|not provided [RCV000235328] Chr5:112840240 [GRCh38]
Chr5:112175937 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6329C>G (p.Ser2110Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765480]|Hereditary cancer-predisposing syndrome [RCV000772049]|not provided [RCV000235374] Chr5:112841923 [GRCh38]
Chr5:112177620 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8029G>A (p.Gly2677Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518467]|Familial adenomatous polyposis 1 [RCV003535666]|Hereditary cancer-predisposing syndrome [RCV000565628]|not provided [RCV000235395] Chr5:112843623 [GRCh38]
Chr5:112179320 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8441_8444del (p.Lys2814fs) deletion Familial adenomatous polyposis 1 [RCV003463697]|Hereditary cancer-predisposing syndrome [RCV000581107]|not provided [RCV000589432] Chr5:112844033..112844036 [GRCh38]
Chr5:112179730..112179733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8286C>A (p.Phe2762Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535660]|Hereditary cancer-predisposing syndrome [RCV002429154]|not provided [RCV000235534] Chr5:112843880 [GRCh38]
Chr5:112179577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-2A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV001857812]|Familial adenomatous polyposis 1 [RCV003337264]|Hereditary cancer-predisposing syndrome [RCV002327162]|not provided [RCV000235486] Chr5:112775627 [GRCh38]
Chr5:112111324 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2855C>T (p.Ala952Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743690]|Hereditary cancer-predisposing syndrome [RCV000566278]|not provided [RCV000235602] Chr5:112838449 [GRCh38]
Chr5:112174146 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1239dup (p.Arg414fs) duplication Familial adenomatous polyposis 1 [RCV002518443]|Hereditary cancer-predisposing syndrome [RCV001010499]|not provided [RCV000235625] Chr5:112819270..112819271 [GRCh38]
Chr5:112154967..112154968 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7922A>C (p.Lys2641Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535663]|Hereditary cancer-predisposing syndrome [RCV000575151]|not provided [RCV000235631] Chr5:112843516 [GRCh38]
Chr5:112179213 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8402G>A (p.Arg2801Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518425]|Familial adenomatous polyposis 1 [RCV003535652]|Hereditary cancer-predisposing syndrome [RCV000581244]|not provided [RCV000235635] Chr5:112843996 [GRCh38]
Chr5:112179693 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2527_2530del (p.Ser843fs) deletion Familial adenomatous polyposis 1 [RCV001845049]|Familial adenomatous polyposis 1 [RCV003337265]|Hereditary cancer-predisposing syndrome [RCV001015839]|not provided [RCV000235481] Chr5:112838120..112838123 [GRCh38]
Chr5:112173817..112173820 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.440A>G (p.Asp147Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765475]|Hereditary cancer-predisposing syndrome [RCV001022439]|not provided [RCV000235657] Chr5:112775646 [GRCh38]
Chr5:112111343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.137A>G (p.Glu46Gly) single nucleotide variant not provided [RCV000235735] Chr5:112766327 [GRCh38]
Chr5:112102024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4495G>A (p.Gly1499Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535654]|Hereditary cancer-predisposing syndrome [RCV000771272]|not provided [RCV000235790] Chr5:112840089 [GRCh38]
Chr5:112175786 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3429_3430dup (p.Ser1144fs) microsatellite not provided [RCV000235832] Chr5:112839020..112839021 [GRCh38]
Chr5:112174717..112174718 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7645C>T (p.Arg2549Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743687]|Hereditary cancer-predisposing syndrome [RCV000491798]|not provided [RCV001537813] Chr5:112843239 [GRCh38]
Chr5:112178936 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4735A>T (p.Ile1579Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535664]|Hereditary cancer-predisposing syndrome [RCV002338775]|not provided [RCV000235893] Chr5:112840329 [GRCh38]
Chr5:112176026 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.1958+3A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003335281]|Familial multiple polyposis syndrome [RCV000659274]|Hereditary cancer-predisposing syndrome [RCV002418039]|not provided [RCV000235895] Chr5:112835168 [GRCh38]
Chr5:112170865 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3306C>A (p.Tyr1102Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337266]|not provided [RCV000235911] Chr5:112838900 [GRCh38]
Chr5:112174597 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.-43A>C single nucleotide variant APC-related condition [RCV003955387]|Familial adenomatous polyposis 1 [RCV000708948]|not provided [RCV000235958] Chr5:112737901 [GRCh38]
Chr5:112073598 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.422+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000411017]|Familial adenomatous polyposis 1 [RCV002288933]|Familial adenomatous polyposis 1 [RCV003743691]|Hereditary cancer-predisposing syndrome [RCV002327164]|not provided [RCV000235994] Chr5:112767392 [GRCh38]
Chr5:112103089 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3016C>T (p.His1006Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518419]|Hereditary cancer-predisposing syndrome [RCV001178638]|not provided [RCV000236071] Chr5:112838610 [GRCh38]
Chr5:112174307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-192A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003743686]|Gastric adenocarcinoma and proximal polyposis of the stomach [RCV001290976]|Hereditary cancer-predisposing syndrome [RCV002411065]|not provided [RCV001552789] Chr5:112707526 [GRCh38]
Chr5:112043223 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_001127511.3(APC):c.-192A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000234988] Chr5:112707526 [GRCh38]
Chr5:112043223 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-190G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000234994]|Familial adenomatous polyposis 1 [RCV003650547] Chr5:112707528 [GRCh38]
Chr5:112043225 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001127511.3(APC):c.-191T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000234996]|Familial adenomatous polyposis 1 [RCV003743685]|Gastric adenocarcinoma and proximal polyposis of the stomach [RCV001290975]|Hereditary cancer-predisposing syndrome [RCV001013699]|not provided [RCV001559545] Chr5:112707527 [GRCh38]
Chr5:112043224 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|not provided
NM_000038.6(APC):c.1440A>C (p.Gln480His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000705339]|Familial adenomatous polyposis 1 [RCV003535653]|Hereditary cancer-predisposing syndrome [RCV001011593]|not provided [RCV000236105]|not specified [RCV001192911] Chr5:112827139 [GRCh38]
Chr5:112162836 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.3593C>G (p.Ser1198Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519827]|Familial adenomatous polyposis 1 [RCV003535656]|not provided [RCV000236148] Chr5:112839187 [GRCh38]
Chr5:112174884 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2395del (p.Tyr799fs) deletion Hereditary cancer-predisposing syndrome [RCV002450733]|not provided [RCV000236181] Chr5:112837988 [GRCh38]
Chr5:112173685 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4669A>G (p.Ile1557Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650548]|Hereditary cancer-predisposing syndrome [RCV000491300]|not provided [RCV000589170] Chr5:112840263 [GRCh38]
Chr5:112175960 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6093_6095delinsAC (p.Ser2031fs) indel Familial adenomatous polyposis 1 [RCV003337267]|not provided [RCV000236218] Chr5:112841687..112841689 [GRCh38]
Chr5:112177384..112177386 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5339C>A (p.Pro1780Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347929]|not provided [RCV000236222] Chr5:112840933 [GRCh38]
Chr5:112176630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.315_318delinsA (p.Ser105del) indel Hereditary cancer-predisposing syndrome [RCV003584582]|not provided [RCV000236244] Chr5:112767283..112767286 [GRCh38]
Chr5:112102980..112102983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7260_7262del (p.Ser2421del) deletion Familial adenomatous polyposis 1 [RCV003650554]|Familial multiple polyposis syndrome [RCV000238793] Chr5:112842852..112842854 [GRCh38]
Chr5:112178549..112178551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5789A>C (p.Gln1930Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743694]|not provided [RCV000236296] Chr5:112841383 [GRCh38]
Chr5:112177080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.596C>T (p.Ala199Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535661]|Hereditary cancer-predisposing syndrome [RCV000563434]|not provided [RCV000236321] Chr5:112780854 [GRCh38]
Chr5:112116551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5503A>G (p.Arg1835Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743692]|Hereditary cancer-predisposing syndrome [RCV000580701]|not provided [RCV000236329] Chr5:112841097 [GRCh38]
Chr5:112176794 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.721G>A (p.Glu241Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535650]|Hereditary cancer-predisposing syndrome [RCV000573590]|not provided [RCV000236387]|not specified [RCV000779732] Chr5:112792521 [GRCh38]
Chr5:112128218 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.646-8T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002518445]|Hereditary cancer-predisposing syndrome [RCV000771392]|not specified [RCV000236430] Chr5:112792438 [GRCh38]
Chr5:112128135 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4844A>G (p.Tyr1615Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535665]|Hereditary cancer-predisposing syndrome [RCV000772052]|not provided [RCV000236443] Chr5:112840438 [GRCh38]
Chr5:112176135 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8057T>C (p.Val2686Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518420]|Familial adenomatous polyposis 1 [RCV003535651]|Hereditary cancer-predisposing syndrome [RCV000561345]|not provided [RCV000236452]|not specified [RCV000779729] Chr5:112843651 [GRCh38]
Chr5:112179348 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5866A>G (p.Ile1956Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535658]|Hereditary cancer-predisposing syndrome [RCV002356321]|not provided [RCV000587771]|not specified [RCV000236514] Chr5:112841460 [GRCh38]
Chr5:112177157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7117A>G (p.Met2373Val) single nucleotide variant APC-related condition [RCV003422162]|Familial adenomatous polyposis 1 [RCV003743693]|Hereditary cancer-predisposing syndrome [RCV001026058]|not provided [RCV000236661] Chr5:112842711 [GRCh38]
Chr5:112178408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8075C>T (p.Pro2692Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650550]|Hereditary cancer-predisposing syndrome [RCV001027141]|not provided [RCV000236662] Chr5:112843669 [GRCh38]
Chr5:112179366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.477C>G (p.Tyr159Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519826]|Familial adenomatous polyposis 1 [RCV003535655]|Familial multiple polyposis syndrome [RCV001844100]|Hereditary cancer-predisposing syndrome [RCV001023029]|not provided [RCV000236674] Chr5:112775683 [GRCh38]
Chr5:112111380 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3691C>T (p.Leu1231Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003765467]|Hereditary cancer-predisposing syndrome [RCV001020894]|not provided [RCV000236719] Chr5:112839285 [GRCh38]
Chr5:112174982 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7264A>C (p.Thr2422Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518444]|Familial adenomatous polyposis 1 [RCV003650549]|Hereditary cancer-predisposing syndrome [RCV001804972]|not provided [RCV000236724] Chr5:112842858 [GRCh38]
Chr5:112178555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6010dup (p.Ala2004fs) duplication Familial adenomatous polyposis 1 [RCV003335287]|not provided [RCV000236742] Chr5:112841603..112841604 [GRCh38]
Chr5:112177300..112177301 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6278C>T (p.Ser2093Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535659]|Hereditary cancer-predisposing syndrome [RCV002365228]|not provided [RCV000236754] Chr5:112841872 [GRCh38]
Chr5:112177569 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3499_3501del (p.Asn1167del) deletion Familial adenomatous polyposis 1 [RCV003650553]|not provided [RCV000236771] Chr5:112839091..112839093 [GRCh38]
Chr5:112174788..112174790 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5880_5881delinsAC (p.Val1961Leu) indel Familial adenomatous polyposis 1 [RCV003765476]|Hereditary cancer-predisposing syndrome [RCV002356320]|not provided [RCV000236834] Chr5:112841474..112841475 [GRCh38]
Chr5:112177171..112177172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548G>C (p.Lys516Asn) single nucleotide variant Carcinoma of colon [RCV000501897]|Familial adenomatous polyposis 1 [RCV002519828]|Familial adenomatous polyposis 1 [RCV003535657]|Hereditary cancer-predisposing syndrome [RCV000491475]|not provided [RCV000236999] Chr5:112827247 [GRCh38]
Chr5:112162944 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002518460]|Familial adenomatous polyposis 1 [RCV003650551]|Hereditary cancer-predisposing syndrome [RCV000564209]|not provided [RCV000657112]|not specified [RCV000236846] Chr5:112842252 [GRCh38]
Chr5:112177949 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7292G>A (p.Arg2431Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650552]|Hereditary cancer-predisposing syndrome [RCV000562107]|not provided [RCV000237076] Chr5:112842886 [GRCh38]
Chr5:112178583 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7166G>A (p.Ser2389Asn) single nucleotide variant Desmoid disease, hereditary [RCV000765790]|Familial adenomatous polyposis 1 [RCV002527861]|Familial adenomatous polyposis 1 [RCV003651978]|Hereditary cancer-predisposing syndrome [RCV000564175]|not provided [RCV000586700] Chr5:112842760 [GRCh38]
Chr5:112178457 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3788G>A (p.Cys1263Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651989]|Hereditary cancer-predisposing syndrome [RCV000565239] Chr5:112839382 [GRCh38]
Chr5:112175079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4534G>T (p.Asp1512Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563939] Chr5:112840128 [GRCh38]
Chr5:112175825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5283C>T (p.Asn1761=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231997]|Hereditary cancer-predisposing syndrome [RCV000581404] Chr5:112840877 [GRCh38]
Chr5:112176574 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8316A>G (p.Ser2772=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767047]|Hereditary cancer-predisposing syndrome [RCV000571654]|not specified [RCV000612419] Chr5:112843910 [GRCh38]
Chr5:112179607 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4636A>C (p.Asn1546His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564019] Chr5:112840230 [GRCh38]
Chr5:112175927 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5684C>T (p.Thr1895Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653234]|Malignant tumor of breast [RCV001357893]|not provided [RCV000626305] Chr5:112841278 [GRCh38]
Chr5:112176975 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2434_2443delinsCC (p.Asp812fs) indel Familial multiple polyposis syndrome [RCV000659275] Chr5:112838028..112838037 [GRCh38]
Chr5:112173725..112173734 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.8373G>A (p.Arg2791=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767472]|Hereditary cancer-predisposing syndrome [RCV000772678]|not specified [RCV000603433] Chr5:112843967 [GRCh38]
Chr5:112179664 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6759T>G (p.Leu2253=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742770]|Hereditary cancer-predisposing syndrome [RCV002367894] Chr5:112842353 [GRCh38]
Chr5:112178050 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.94A>T (p.Asn32Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652026]|Hereditary cancer-predisposing syndrome [RCV000562593] Chr5:112754984 [GRCh38]
Chr5:112090681 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.221A>G (p.Glu74Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744567]|Hereditary cancer-predisposing syndrome [RCV000562686] Chr5:112767189 [GRCh38]
Chr5:112102886 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30608A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537062] Chr5:112707336 [GRCh38]
Chr5:112043033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5365G>C (p.Val1789Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000544335]|Familial adenomatous polyposis 1 [RCV003316714]|Hereditary cancer-predisposing syndrome [RCV000563045]|not specified [RCV003403315] Chr5:112840959 [GRCh38]
Chr5:112176656 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5125A>T (p.Thr1709Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742727]|Hereditary cancer-predisposing syndrome [RCV001189874]|not provided [RCV001775866] Chr5:112840719 [GRCh38]
Chr5:112176416 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.697C>T (p.Gln233Ter) single nucleotide variant APC-Associated Polyposis Disorders [RCV003330781]|Familial adenomatous polyposis 1 [RCV002527857]|Familial adenomatous polyposis 1 [RCV003742775]|Hereditary cancer-predisposing syndrome [RCV000563146] Chr5:112792497 [GRCh38]
Chr5:112128194 [GRCh37]
Chr5:5q22.2		 pathogenic|not provided
NM_000038.6(APC):c.1530_1548+10del deletion Familial adenomatous polyposis 1 [RCV003767010] Chr5:112827226..112827254 [GRCh38]
Chr5:112162923..112162951 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6491G>C (p.Gly2164Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459247]|Hereditary cancer-predisposing syndrome [RCV000777211]|not provided [RCV001775869]|not specified [RCV003317275] Chr5:112842085 [GRCh38]
Chr5:112177782 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1376A>G (p.Asp459Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767243]|Hereditary cancer-predisposing syndrome [RCV000563425] Chr5:112821959 [GRCh38]
Chr5:112157656 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4970dup (p.Ser1658fs) duplication Familial adenomatous polyposis 1 [RCV001859993]|Familial adenomatous polyposis 1 [RCV003767248]|Familial multiple polyposis syndrome [RCV003226327]|Hereditary cancer-predisposing syndrome [RCV000563439] Chr5:112840563..112840564 [GRCh38]
Chr5:112176260..112176261 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6729A>G (p.Thr2243=) single nucleotide variant APC-related condition [RCV003983128]|Familial adenomatous polyposis 1 [RCV003767156]|Hereditary cancer-predisposing syndrome [RCV000563520]|not specified [RCV000612562] Chr5:112842323 [GRCh38]
Chr5:112178020 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1193A>G (p.Lys398Arg) single nucleotide variant Desmoid disease, hereditary [RCV002491068]|Familial adenomatous polyposis 1 [RCV003535809]|Hereditary cancer-predisposing syndrome [RCV000572587]|not provided [RCV003322784]|not specified [RCV001174750] Chr5:112819225 [GRCh38]
Chr5:112154922 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5788C>G (p.Gln1930Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537076]|Hereditary cancer-predisposing syndrome [RCV000572331] Chr5:112841382 [GRCh38]
Chr5:112177079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1979A>G (p.Asn660Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526856]|Familial adenomatous polyposis 1 [RCV003652002]|Hereditary cancer-predisposing syndrome [RCV000563785] Chr5:112837573 [GRCh38]
Chr5:112173270 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3674C>A (p.Ala1225Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742688]|Hereditary cancer-predisposing syndrome [RCV000574745] Chr5:112839268 [GRCh38]
Chr5:112174965 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7772A>C (p.His2591Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742797]|Hereditary cancer-predisposing syndrome [RCV000572011] Chr5:112843366 [GRCh38]
Chr5:112179063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4928G>T (p.Cys1643Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651972]|Hereditary cancer-predisposing syndrome [RCV002341385] Chr5:112840522 [GRCh38]
Chr5:112176219 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-177dup duplication Familial adenomatous polyposis 1 [RCV003771142] Chr5:112707540..112707541 [GRCh38]
Chr5:112043237..112043238 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.809A>C (p.Asn270Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548595]|Hereditary cancer-predisposing syndrome [RCV002420816] Chr5:112801358 [GRCh38]
Chr5:112137055 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30568T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537059] Chr5:112707376 [GRCh38]
Chr5:112043073 [GRCh37]
Chr5:5q22.2		 benign
NM_001127511.3(APC):c.114G>A (p.Thr38=) single nucleotide variant APC-related condition [RCV003960351]|Familial adenomatous polyposis 1 [RCV002528452] Chr5:112707831 [GRCh38]
Chr5:112043528 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2587_2589del (p.Tyr863del) deletion Familial adenomatous polyposis 1 [RCV003652038]|Hereditary cancer-predisposing syndrome [RCV000565138] Chr5:112838179..112838181 [GRCh38]
Chr5:112173876..112173878 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-126dup duplication Familial adenomatous polyposis 1 [RCV002232996]|not provided [RCV001547554]|not specified [RCV002268219] Chr5:112707585..112707586 [GRCh38]
Chr5:112043289 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.531+5G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002518800]|Familial adenomatous polyposis 1 [RCV003650565]|Hereditary cancer-predisposing syndrome [RCV000491896]|not provided [RCV000322468] Chr5:112775742 [GRCh38]
Chr5:112111439 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.5(APC):c.-18-?_834+?dup duplication Familial adenomatous polyposis 1 [RCV000240243]   likely pathogenic
NM_001127511.3(APC):c.-124C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742645] Chr5:112707594 [GRCh38]
Chr5:112043291 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.*1320T>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000278775] Chr5:112845446 [GRCh38]
Chr5:112181143 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7977G>A (p.Val2659=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651979]|Hereditary cancer-predisposing syndrome [RCV000571082]|not provided [RCV001722502] Chr5:112843571 [GRCh38]
Chr5:112179268 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-152C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002231446]|not provided [RCV002060337]|not specified [RCV000616769] Chr5:112707566 [GRCh38]
Chr5:112043263 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.8349T>G (p.Pro2783=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742815] Chr5:112843943 [GRCh38]
Chr5:112179640 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.437C>T (p.Ala146Val) single nucleotide variant APC-related condition [RCV003420010]|Familial adenomatous polyposis 1 [RCV002526877]|Familial adenomatous polyposis 1 [RCV003537168]|Hereditary cancer-predisposing syndrome [RCV000566219]|not specified [RCV000780845] Chr5:112775643 [GRCh38]
Chr5:112111340 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8401C>T (p.Arg2801Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537128]|Hereditary cancer-predisposing syndrome [RCV000567866]|not provided [RCV001591331] Chr5:112843995 [GRCh38]
Chr5:112179692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7016_7076del (p.Pro2339fs) deletion Familial adenomatous polyposis 1 [RCV002562510]|Familial adenomatous polyposis 1 [RCV003650742]|Hereditary cancer-predisposing syndrome [RCV002365995] Chr5:112842601..112842661 [GRCh38]
Chr5:112178298..112178358 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2057_2058del (p.Asn686fs) deletion Familial adenomatous polyposis 1 [RCV000755039] Chr5:112837651..112837652 [GRCh38]
Chr5:112173348..112173349 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.7148G>A (p.Gly2383Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651977] Chr5:112842742 [GRCh38]
Chr5:112178439 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.508_509del (p.Ile169_Asp170insTer) deletion Familial adenomatous polyposis 1 [RCV003535681]|not provided [RCV000255777] Chr5:112775713..112775714 [GRCh38]
Chr5:112111410..112111411 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1522_1523del (p.Leu508fs) deletion Familial adenomatous polyposis 1 [RCV003337268]|not provided [RCV000255832] Chr5:112827221..112827222 [GRCh38]
Chr5:112162918..112162919 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5475T>C (p.Asp1825=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742737] Chr5:112841069 [GRCh38]
Chr5:112176766 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6101_6102del (p.Asp2033_Ser2034insTer) microsatellite Familial adenomatous polyposis 1 [RCV003535680]|not provided [RCV000256071] Chr5:112841693..112841694 [GRCh38]
Chr5:112177390..112177391 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3343del (p.Val1115fs) deletion Familial adenomatous polyposis 1 [RCV003335467] Chr5:112838937 [GRCh38]
Chr5:112174634 [GRCh37]
Chr5:5q22.2		 pathogenic
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3		 likely benign
NM_000038.6(APC):c.4742C>T (p.Ser1581Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567763] Chr5:112840336 [GRCh38]
Chr5:112176033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7912G>C (p.Ala2638Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742802] Chr5:112843506 [GRCh38]
Chr5:112179203 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4846A>C (p.Lys1616Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742719] Chr5:112840440 [GRCh38]
Chr5:112176137 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+30A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV000987555]|not provided [RCV001689767]|not specified [RCV000252362] Chr5:112815623 [GRCh38]
Chr5:112151320 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.4908T>C (p.Asp1636=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537140]|Hereditary cancer-predisposing syndrome [RCV000565616]|not provided [RCV001707744] Chr5:112840502 [GRCh38]
Chr5:112176199 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6274C>T (p.Leu2092=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767036]|Hereditary cancer-predisposing syndrome [RCV003302861] Chr5:112841868 [GRCh38]
Chr5:112177565 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1480A>G (p.Ser494Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528065]|Familial adenomatous polyposis 1 [RCV003537147]|Hereditary cancer-predisposing syndrome [RCV000567097]|not provided [RCV001755939] Chr5:112827179 [GRCh38]
Chr5:112162876 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2361T>C (p.Ser787=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742607] Chr5:112837955 [GRCh38]
Chr5:112173652 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5216A>T (p.Lys1739Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742729]|Hereditary cancer-predisposing syndrome [RCV000777222] Chr5:112840810 [GRCh38]
Chr5:112176507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2658G>A (p.Gln886=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231557]|Hereditary cancer-predisposing syndrome [RCV000567146] Chr5:112838252 [GRCh38]
Chr5:112173949 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4318C>A (p.Pro1440Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528080]|Hereditary cancer-predisposing syndrome [RCV000564419] Chr5:112839912 [GRCh38]
Chr5:112175609 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7498C>G (p.Gln2500Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742787]|Hereditary cancer-predisposing syndrome [RCV001190626]|not specified [RCV000603962] Chr5:112843092 [GRCh38]
Chr5:112178789 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8145C>T (p.Thr2715=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537111]|Hereditary cancer-predisposing syndrome [RCV000565794]|not provided [RCV002476233] Chr5:112843739 [GRCh38]
Chr5:112179436 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7329C>T (p.Phe2443=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744575]|Hereditary cancer-predisposing syndrome [RCV000565858] Chr5:112842923 [GRCh38]
Chr5:112178620 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys) single nucleotide variant APC-Associated Polyposis Disorders [RCV000276968]|APC-related condition [RCV003912493]|Familial adenomatous polyposis 1 [RCV000462798]|Familial adenomatous polyposis 1 [RCV003650574]|Hereditary cancer-predisposing syndrome [RCV000566206]|not provided [RCV001712147]|not specified [RCV001731621] Chr5:112843375 [GRCh38]
Chr5:112179072 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.2160G>A (p.Met720Ile) single nucleotide variant Desmoid disease, hereditary [RCV002491069]|Familial adenomatous polyposis 1 [RCV003651946]|Hereditary cancer-predisposing syndrome [RCV001014490] Chr5:112837754 [GRCh38]
Chr5:112173451 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5481C>T (p.Leu1827=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742739]|Hereditary cancer-predisposing syndrome [RCV003159868] Chr5:112841075 [GRCh38]
Chr5:112176772 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-34C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537042] Chr5:112707684 [GRCh38]
Chr5:112043381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5500G>A (p.Val1834Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651974]|Hereditary cancer-predisposing syndrome [RCV000584452]|not provided [RCV000679067] Chr5:112841094 [GRCh38]
Chr5:112176791 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6898_6900del (p.Ser2300del) deletion Familial adenomatous polyposis 1 [RCV003742774]|Hereditary cancer-predisposing syndrome [RCV001025769] Chr5:112842490..112842492 [GRCh38]
Chr5:112178187..112178189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4033G>T (p.Glu1345Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335447]|not provided [RCV000522251] Chr5:112839627 [GRCh38]
Chr5:112175324 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5894A>C (p.His1965Pro) single nucleotide variant APC-Associated Polyposis Disorders [RCV000332846]|Desmoid disease, hereditary [RCV002480220]|Familial adenomatous polyposis 1 [RCV003535690]|Hereditary cancer-predisposing syndrome [RCV000567246]|not specified [RCV003320183] Chr5:112841488 [GRCh38]
Chr5:112177185 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.*1304G>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000399644] Chr5:112845430 [GRCh38]
Chr5:112181127 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.*1497C>T single nucleotide variant APC-Associated Polyposis Disorders [RCV000400357]|not provided [RCV003326417] Chr5:112845623 [GRCh38]
Chr5:112181320 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.166-28452G>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000301803]|APC-related condition [RCV003912491]|Hereditary cancer-predisposing syndrome [RCV003315241]|not specified [RCV000609818] Chr5:112737874 [GRCh38]
Chr5:112073571 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5194A>G (p.Met1732Val) single nucleotide variant APC-Associated Polyposis Disorders [RCV000338065]|Carcinoma of colon [RCV001356468]|Familial adenomatous polyposis 1 [RCV003475934]|Hereditary cancer-predisposing syndrome [RCV000573682]|not provided [RCV000482902]|not specified [RCV000779704] Chr5:112840788 [GRCh38]
Chr5:112176485 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+10G>T single nucleotide variant APC-Associated Polyposis Disorders [RCV000287282]|APC-related condition [RCV003912492]|Familial adenomatous polyposis 1 [RCV000459076]|Familial adenomatous polyposis 1 [RCV003316497]|Hereditary cancer-predisposing syndrome [RCV000580529]|not specified [RCV000418418] Chr5:112835175 [GRCh38]
Chr5:112170872 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.*142C>T single nucleotide variant APC-Associated Polyposis Disorders [RCV000288138]|not provided [RCV001578091] Chr5:112844268 [GRCh38]
Chr5:112179965 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5840C>G (p.Thr1947Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV000362266]|Familial adenomatous polyposis 1 [RCV002520290]|Hereditary cancer-predisposing syndrome [RCV000775335]|not provided [RCV003317196]|not specified [RCV001821073] Chr5:112841434 [GRCh38]
Chr5:112177131 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.*1203A>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000386671] Chr5:112845329 [GRCh38]
Chr5:112181026 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4833G>A (p.Gln1611=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000325511]|Familial adenomatous polyposis 1 [RCV003766022]|Hereditary cancer-predisposing syndrome [RCV000569024]|not provided [RCV000679061]|not specified [RCV001283863] Chr5:112840427 [GRCh38]
Chr5:112176124 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.*1050T>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000326106] Chr5:112845176 [GRCh38]
Chr5:112180873 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.*1164G>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000327526] Chr5:112845290 [GRCh38]
Chr5:112180987 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7209G>A (p.Gln2403=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000346816]|Familial adenomatous polyposis 1 [RCV003743700]|Hereditary cancer-predisposing syndrome [RCV000494598]|not provided [RCV001718747]|not specified [RCV000436869] Chr5:112842803 [GRCh38]
Chr5:112178500 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.*1609T>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000393059] Chr5:112845735 [GRCh38]
Chr5:112181432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*414dup duplication APC-Associated Polyposis Disorders [RCV000393998] Chr5:112844531..112844532 [GRCh38]
Chr5:112180228..112180229 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.*266C>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000312688] Chr5:112844392 [GRCh38]
Chr5:112180089 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.*2005T>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000330624] Chr5:112846131 [GRCh38]
Chr5:112181828 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.6492C>T (p.Gly2164=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000331768]|Familial adenomatous polyposis 1 [RCV002229891]|Hereditary cancer-predisposing syndrome [RCV000491294]|not specified [RCV000425863] Chr5:112842086 [GRCh38]
Chr5:112177783 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.*1840A>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000269795] Chr5:112845966 [GRCh38]
Chr5:112181663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5050T>C (p.Phe1684Leu) single nucleotide variant APC-Associated Polyposis Disorders [RCV000280740]|Familial adenomatous polyposis 1 [RCV003535689]|Hereditary cancer-predisposing syndrome [RCV001023479]|not provided [RCV000985305] Chr5:112840644 [GRCh38]
Chr5:112176341 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*551T>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000259498] Chr5:112844677 [GRCh38]
Chr5:112180374 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2395dup (p.Tyr799fs) duplication Familial adenomatous polyposis 1 [RCV003650566]|not provided [RCV000298073] Chr5:112837987..112837988 [GRCh38]
Chr5:112173684..112173685 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7903A>G (p.Thr2635Ala) single nucleotide variant APC-Associated Polyposis Disorders [RCV000261598]|Familial adenomatous polyposis 1 [RCV003766024]|Hereditary cancer-predisposing syndrome [RCV000575871]|not provided [RCV000478957] Chr5:112843497 [GRCh38]
Chr5:112179194 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.*404_*405insA insertion APC-Associated Polyposis Disorders [RCV000348763] Chr5:112844530..112844531 [GRCh38]
Chr5:112180227..112180228 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*1970T>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000275576] Chr5:112846096 [GRCh38]
Chr5:112181793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*645A>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000265587] Chr5:112844771 [GRCh38]
Chr5:112180468 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*928_*929del deletion APC-Associated Polyposis Disorders [RCV000266312] Chr5:112845052..112845053 [GRCh38]
Chr5:112180749..112180750 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.800dup (p.Glu268fs) duplication not provided [RCV000406792] Chr5:112801346..112801347 [GRCh38]
Chr5:112137043..112137044 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2483del (p.Thr828fs) deletion Familial adenomatous polyposis 1 [RCV003337270]|Hereditary cancer-predisposing syndrome [RCV000491139]|not provided [RCV000484336] Chr5:112838077 [GRCh38]
Chr5:112173774 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2702A>C (p.Gln901Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742622]|Hereditary cancer-predisposing syndrome [RCV002431657] Chr5:112838296 [GRCh38]
Chr5:112173993 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4317_4319del (p.Pro1443del) deletion Familial adenomatous polyposis 1 [RCV002528048]|Familial adenomatous polyposis 1 [RCV003651995]|Hereditary cancer-predisposing syndrome [RCV000568420] Chr5:112839909..112839911 [GRCh38]
Chr5:112175606..112175608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6580G>A (p.Val2194Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767153]|Hereditary cancer-predisposing syndrome [RCV000568423]|not specified [RCV002248784] Chr5:112842174 [GRCh38]
Chr5:112177871 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6011C>T (p.Ala2004Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773058] Chr5:112841605 [GRCh38]
Chr5:112177302 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7906A>C (p.Asn2636His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564802] Chr5:112843500 [GRCh38]
Chr5:112179197 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8027C>T (p.Thr2676Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526902]|Hereditary cancer-predisposing syndrome [RCV000567931] Chr5:112843621 [GRCh38]
Chr5:112179318 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1365A>G (p.Lys455=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744568]|Hereditary cancer-predisposing syndrome [RCV000568494] Chr5:112821948 [GRCh38]
Chr5:112157645 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707410G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538755] Chr5:112707410 [GRCh38]
Chr5:112043107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2840G>T (p.Cys947Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742626]|Hereditary cancer-predisposing syndrome [RCV001016752]|not provided [RCV003226943]|not specified [RCV000780853] Chr5:112838434 [GRCh38]
Chr5:112174131 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8060C>T (p.Ser2687Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537090]|Hereditary cancer-predisposing syndrome [RCV000576128] Chr5:112843654 [GRCh38]
Chr5:112179351 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744543]|Hereditary cancer-predisposing syndrome [RCV000568263]|not provided [RCV001764583] Chr5:112818964 [GRCh38]
Chr5:112154661 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.5497dup (p.Arg1833fs) duplication Familial adenomatous polyposis 1 [RCV003316981] Chr5:112841090..112841091 [GRCh38]
Chr5:112176787..112176788 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6872A>G (p.Gln2291Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564951] Chr5:112842466 [GRCh38]
Chr5:112178163 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30482G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742658] Chr5:112707462 [GRCh38]
Chr5:112043159 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30493C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537055] Chr5:112707451 [GRCh38]
Chr5:112043148 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6471A>G (p.Lys2157=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232649]|Hereditary cancer-predisposing syndrome [RCV000568956] Chr5:112842065 [GRCh38]
Chr5:112177762 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6736G>A (p.Val2246Ile) single nucleotide variant Desmoid disease, hereditary [RCV000765789]|Familial adenomatous polyposis 1 [RCV000646326]|Familial adenomatous polyposis 1 [RCV002232175]|Hereditary cancer-predisposing syndrome [RCV000569003]|not provided [RCV001775901] Chr5:112842330 [GRCh38]
Chr5:112178027 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.220+3A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000569026] Chr5:112766413 [GRCh38]
Chr5:112102110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.650G>C (p.Arg217Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003777319]|not specified [RCV003321024] Chr5:112792450 [GRCh38]
Chr5:112128147 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6316G>A (p.Glu2106Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742760]|Hereditary cancer-predisposing syndrome [RCV001025129]|not provided [RCV003328597] Chr5:112841910 [GRCh38]
Chr5:112177607 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5066C>T (p.Thr1689Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526284]|Hereditary cancer-predisposing syndrome [RCV003159867] Chr5:112840660 [GRCh38]
Chr5:112176357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4590A>G (p.Glu1530=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231581]|Hereditary cancer-predisposing syndrome [RCV000569139]|not specified [RCV000606102] Chr5:112840184 [GRCh38]
Chr5:112175881 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.800G>C (p.Gly267Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538395]|not provided [RCV000586621] Chr5:112801349 [GRCh38]
Chr5:112137046 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+17T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538399]|not specified [RCV000602946] Chr5:112767407 [GRCh38]
Chr5:112103104 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4364A>G (p.Asn1455Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537108]|Hereditary cancer-predisposing syndrome [RCV000569260]|not specified [RCV003493656] Chr5:112839958 [GRCh38]
Chr5:112175655 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs) deletion Familial adenomatous polyposis 1 [RCV003451315]|not provided [RCV000582122] Chr5:112840597..112840600 [GRCh38]
Chr5:112176294..112176297 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3264del (p.Lys1088fs) deletion Familial adenomatous polyposis 1 [RCV003336078]|Hereditary cancer-predisposing syndrome [RCV003302899]|not provided [RCV000582184] Chr5:112838858 [GRCh38]
Chr5:112174555 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3473_3474dup (p.Pro1159fs) microsatellite Familial adenomatous polyposis 1 [RCV003337323]|Hereditary cancer-predisposing syndrome [RCV002456277]|not provided [RCV000581546] Chr5:112839061..112839062 [GRCh38]
Chr5:112174758..112174759 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5615T>A (p.Val1872Asp) single nucleotide variant Desmoid disease, hereditary [RCV002497225]|Familial adenomatous polyposis 1 [RCV003537230]|Hereditary cancer-predisposing syndrome [RCV000579410] Chr5:112841209 [GRCh38]
Chr5:112176906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6645G>T (p.Gln2215His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579439] Chr5:112842239 [GRCh38]
Chr5:112177936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4802T>C (p.Leu1601Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744584]|Hereditary cancer-predisposing syndrome [RCV000579517] Chr5:112840396 [GRCh38]
Chr5:112176093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6929C>T (p.Ser2310Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744587]|Hereditary cancer-predisposing syndrome [RCV000579583] Chr5:112842523 [GRCh38]
Chr5:112178220 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1124G>A (p.Gly375Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652055]|Hereditary cancer-predisposing syndrome [RCV000579708]|not specified [RCV003320703] Chr5:112819156 [GRCh38]
Chr5:112154853 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6401C>A (p.Ser2134Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744586]|Hereditary cancer-predisposing syndrome [RCV000579820] Chr5:112841995 [GRCh38]
Chr5:112177692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2866T>C (p.Tyr956His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537222]|Hereditary cancer-predisposing syndrome [RCV000579985]|not provided [RCV001571127] Chr5:112838460 [GRCh38]
Chr5:112174157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2006T>G (p.Leu669Ter) single nucleotide variant not provided [RCV001269735] Chr5:112837600 [GRCh38]
Chr5:112173297 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.186T>A (p.Ser62=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649444]|Hereditary cancer-predisposing syndrome [RCV003311057] Chr5:112766376 [GRCh38]
Chr5:112102073 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6675T>C (p.Ser2225=) single nucleotide variant APC-related condition [RCV003935481]|Familial adenomatous polyposis 1 [RCV003742767]|Hereditary cancer-predisposing syndrome [RCV002367893]|not specified [RCV000780864] Chr5:112842269 [GRCh38]
Chr5:112177966 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3075A>G (p.Ile1025Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003777285]|not provided [RCV003315034] Chr5:112838669 [GRCh38]
Chr5:112174366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5493dup (p.Asp1832fs) duplication Familial adenomatous polyposis 1 [RCV003315218] Chr5:112841085..112841086 [GRCh38]
Chr5:112176782..112176783 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2		 pathogenic
NM_000038.6(APC):c.3701G>C (p.Ser1234Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742690]|Hereditary cancer-predisposing syndrome [RCV001180268] Chr5:112839295 [GRCh38]
Chr5:112174992 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3358G>T (p.Gly1120Ter) single nucleotide variant not provided [RCV001269878] Chr5:112838952 [GRCh38]
Chr5:112174649 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6645G>C (p.Gln2215His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771149] Chr5:112842239 [GRCh38]
Chr5:112177936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3214del (p.Ser1072fs) deletion Familial adenomatous polyposis 1 [RCV003337363]|not provided [RCV001269713] Chr5:112838806 [GRCh38]
Chr5:112174503 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.*1132C>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000291126] Chr5:112845258 [GRCh38]
Chr5:112180955 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30560G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003767025] Chr5:112707384 [GRCh38]
Chr5:112043081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*1555C>T single nucleotide variant APC-Associated Polyposis Disorders [RCV000303327] Chr5:112845681 [GRCh38]
Chr5:112181378 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-166C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002526234]|not provided [RCV003424124]|not specified [RCV003320685] Chr5:112707552 [GRCh38]
Chr5:112043249 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.*1834T>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000364402] Chr5:112845960 [GRCh38]
Chr5:112181657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001354897.2(APC):c.-240G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003767022]|not specified [RCV000606361] Chr5:112707478 [GRCh38]
Chr5:112043175 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1980C>T (p.Asn660=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535811]|Hereditary cancer-predisposing syndrome [RCV001805182] Chr5:112837574 [GRCh38]
Chr5:112173271 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.(?_112775623)_(112844132_?)del deletion Familial adenomatous polyposis 1 [RCV000527737]|Familial adenomatous polyposis 1 [RCV001853710] Chr5:112775623..112844132 [GRCh38]
Chr5:112111320..112179829 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.777G>C (p.Arg259=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537086]|Hereditary cancer-predisposing syndrome [RCV002413577] Chr5:112801326 [GRCh38]
Chr5:112137023 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2630G>C (p.Gly877Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652025]|Hereditary cancer-predisposing syndrome [RCV000566008] Chr5:112838224 [GRCh38]
Chr5:112173921 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.*210_*213del deletion APC-Associated Polyposis Disorders [RCV000347753]|not provided [RCV002512080] Chr5:112844335..112844338 [GRCh38]
Chr5:112180032..112180035 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.*1960C>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000365331] Chr5:112846086 [GRCh38]
Chr5:112181783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4608A>T (p.Glu1536Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742715] Chr5:112840202 [GRCh38]
Chr5:112175899 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3689A>G (p.Gln1230Arg) single nucleotide variant Desmoid disease, hereditary [RCV001332124]|Familial adenomatous polyposis 1 [RCV002528506]|Familial adenomatous polyposis 1 [RCV003651971]|Hereditary cancer-predisposing syndrome [RCV000775140]|not provided [RCV002289766]|not specified [RCV001821561] Chr5:112839283 [GRCh38]
Chr5:112174980 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4261A>G (p.Ser1421Gly) single nucleotide variant Carcinoma of colon [RCV001357116]|Familial adenomatous polyposis 1 [RCV002526270]|Hereditary cancer-predisposing syndrome [RCV000771645]|not provided [RCV001584308] Chr5:112839855 [GRCh38]
Chr5:112175552 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-173A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742654] Chr5:112707545 [GRCh38]
Chr5:112043242 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8446C>G (p.Arg2816Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537132]|Hereditary cancer-predisposing syndrome [RCV000566449] Chr5:112844040 [GRCh38]
Chr5:112179737 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8033A>G (p.Asn2678Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV000319284]|Familial adenomatous polyposis 1 [RCV003766025]|Hereditary cancer-predisposing syndrome [RCV001027093]|not specified [RCV000506899] Chr5:112843627 [GRCh38]
Chr5:112179324 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6556A>C (p.Lys2186Gln) single nucleotide variant APC-Associated Polyposis Disorders [RCV000334906]|Familial adenomatous polyposis 1 [RCV003535691]|Hereditary cancer-predisposing syndrome [RCV000562047] Chr5:112842150 [GRCh38]
Chr5:112177847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7435G>A (p.Ala2479Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232048] Chr5:112843029 [GRCh38]
Chr5:112178726 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2185C>G (p.Leu729Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537175]|Hereditary cancer-predisposing syndrome [RCV000566588] Chr5:112837779 [GRCh38]
Chr5:112173476 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.948T>G (p.Tyr316Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744544] Chr5:112818980 [GRCh38]
Chr5:112154677 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.*714G>T single nucleotide variant APC-Associated Polyposis Disorders [RCV000320361] Chr5:112844840 [GRCh38]
Chr5:112180537 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*1233TAT[1] microsatellite APC-Associated Polyposis Disorders [RCV000296564] Chr5:112845359..112845361 [GRCh38]
Chr5:112181056..112181058 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*1294A>G single nucleotide variant APC-Associated Polyposis Disorders [RCV000351485] Chr5:112845420 [GRCh38]
Chr5:112181117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*2087C>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000388900] Chr5:112846213 [GRCh38]
Chr5:112181910 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1857T>C (p.Thr619=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537124]|Hereditary cancer-predisposing syndrome [RCV000566970] Chr5:112835064 [GRCh38]
Chr5:112170761 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7225G>A (p.Gly2409Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767213]|Hereditary cancer-predisposing syndrome [RCV000567129] Chr5:112842819 [GRCh38]
Chr5:112178516 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6624A>G (p.Glu2208=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000286227]|Familial adenomatous polyposis 1 [RCV003766023]|Hereditary cancer-predisposing syndrome [RCV001025468]|not provided [RCV000464182] Chr5:112842218 [GRCh38]
Chr5:112177915 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6316G>C (p.Glu2106Gln) single nucleotide variant APC-Associated Polyposis Disorders [RCV000389696]|Hereditary cancer-predisposing syndrome [RCV001178791] Chr5:112841910 [GRCh38]
Chr5:112177607 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6586A>C (p.Lys2196Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537150]|Hereditary cancer-predisposing syndrome [RCV000567465] Chr5:112842180 [GRCh38]
Chr5:112177877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.336T>A (p.Pro112=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000390987] Chr5:112767304 [GRCh38]
Chr5:112103001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6211A>G (p.Ile2071Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652014]|Hereditary cancer-predisposing syndrome [RCV000567519] Chr5:112841805 [GRCh38]
Chr5:112177502 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5718del (p.Ala1907fs) deletion Familial multiple polyposis syndrome [RCV000614623]|not provided [RCV001775913] Chr5:112841312 [GRCh38]
Chr5:112177009 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.*505C>A single nucleotide variant APC-Associated Polyposis Disorders [RCV000354577] Chr5:112844631 [GRCh38]
Chr5:112180328 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*624A>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000355572] Chr5:112844750 [GRCh38]
Chr5:112180447 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4359T>C (p.Pro1453=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767161]|Hereditary cancer-predisposing syndrome [RCV000567677] Chr5:112839953 [GRCh38]
Chr5:112175650 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1854C>T (p.Gly618=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743780]|Hereditary cancer-predisposing syndrome [RCV001188845] Chr5:112835061 [GRCh38]
Chr5:112170758 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.-181C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003767019]|not provided [RCV001811056]|not specified [RCV000614459] Chr5:112707537 [GRCh38]
Chr5:112043234 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7001A>G (p.Asn2334Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537082]|Hereditary cancer-predisposing syndrome [RCV001025913] Chr5:112842595 [GRCh38]
Chr5:112178292 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8425G>A (p.Val2809Met) single nucleotide variant APC-Associated Polyposis Disorders [RCV000340442]|Familial adenomatous polyposis 1 [RCV000556737]|Familial adenomatous polyposis 1 [RCV003743701]|Hereditary cancer-predisposing syndrome [RCV000575689] Chr5:112844019 [GRCh38]
Chr5:112179716 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3210T>C (p.Asn1070=) single nucleotide variant APC-Associated Polyposis Disorders [RCV000393847]|Familial adenomatous polyposis 1 [RCV002229967]|Hereditary cancer-predisposing syndrome [RCV001019268] Chr5:112838804 [GRCh38]
Chr5:112174501 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5319T>A (p.Thr1773=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742732] Chr5:112840913 [GRCh38]
Chr5:112176610 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220G>A (p.Glu74Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767144]|Hereditary cancer-predisposing syndrome [RCV000568191] Chr5:112766410 [GRCh38]
Chr5:112102107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4682del (p.Lys1561fs) deletion Familial adenomatous polyposis 1 [RCV003335515]|Hereditary cancer-predisposing syndrome [RCV000568254] Chr5:112840273 [GRCh38]
Chr5:112175970 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1966C>G (p.Leu656Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646329]|Familial adenomatous polyposis 1 [RCV003537103]|Hereditary cancer-predisposing syndrome [RCV000568349]|not provided [RCV003478241] Chr5:112837560 [GRCh38]
Chr5:112173257 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7618C>G (p.Pro2540Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987585]|Familial adenomatous polyposis 1 [RCV003652049]|Hereditary cancer-predisposing syndrome [RCV000568735] Chr5:112843212 [GRCh38]
Chr5:112178909 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*574T>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000300701] Chr5:112844700 [GRCh38]
Chr5:112180397 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4616C>A (p.Ser1539Ter) single nucleotide variant not provided [RCV000584354] Chr5:112840210 [GRCh38]
Chr5:112175907 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.734C>A (p.Ser245Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336075]|Familial adenomatous polyposis 1 [RCV003744599]|Hereditary cancer-predisposing syndrome [RCV001026311]|not provided [RCV000584600] Chr5:112801283 [GRCh38]
Chr5:112136980 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5085A>T (p.Arg1695Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579477] Chr5:112840679 [GRCh38]
Chr5:112176376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3383C>G (p.Ser1128Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767262]|Hereditary cancer-predisposing syndrome [RCV000579783] Chr5:112838977 [GRCh38]
Chr5:112174674 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3038A>G (p.His1013Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653179]|Hereditary cancer-predisposing syndrome [RCV000579816] Chr5:112838632 [GRCh38]
Chr5:112174329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4404G>C (p.Lys1468Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653180]|Hereditary cancer-predisposing syndrome [RCV000579906] Chr5:112839998 [GRCh38]
Chr5:112175695 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1459G>A (p.Gly487Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476336]|Familial adenomatous polyposis 1 [RCV003537157]|Hereditary cancer-predisposing syndrome [RCV000564919]|not provided [RCV001553055] Chr5:112827158 [GRCh38]
Chr5:112162855 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112827102)_(112844132_?)del deletion Familial adenomatous polyposis 1 [RCV000548705] Chr5:112827102..112844132 [GRCh38]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4440G>C (p.Gln1480His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528059]|Familial adenomatous polyposis 1 [RCV003537142]|Hereditary cancer-predisposing syndrome [RCV000564996]|Intrahepatic cholangiocarcinoma [RCV000677759]|not provided [RCV003222044]|not specified [RCV002268184] Chr5:112840034 [GRCh38]
Chr5:112175731 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5065A>G (p.Thr1689Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537228]|Hereditary cancer-predisposing syndrome [RCV000579992]|not provided [RCV001558586] Chr5:112840659 [GRCh38]
Chr5:112176356 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1576A>G (p.Met526Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537217]|Hereditary cancer-predisposing syndrome [RCV000580000]|Neoplasm of the liver [RCV000677751] Chr5:112827956 [GRCh38]
Chr5:112163653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3704C>A (p.Ser1235Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530378]|Familial adenomatous polyposis 1 [RCV003537226]|Hereditary cancer-predisposing syndrome [RCV000580104]|not provided [RCV001764697] Chr5:112839298 [GRCh38]
Chr5:112174995 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4852C>G (p.Leu1618Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580152] Chr5:112840446 [GRCh38]
Chr5:112176143 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*1937G>T single nucleotide variant APC-Associated Polyposis Disorders [RCV000329301] Chr5:112846063 [GRCh38]
Chr5:112181760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*913T>C single nucleotide variant APC-Associated Polyposis Disorders [RCV000379594] Chr5:112845039 [GRCh38]
Chr5:112180736 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8440A>G (p.Lys2814Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767159]|Hereditary cancer-predisposing syndrome [RCV000565114]|not specified [RCV000779723] Chr5:112844034 [GRCh38]
Chr5:112179731 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.42G>A (p.Glu14=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767238]|Hereditary cancer-predisposing syndrome [RCV000565251] Chr5:112754932 [GRCh38]
Chr5:112090629 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3659C>T (p.Thr1220Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651984]|Hereditary cancer-predisposing syndrome [RCV000565307]|not provided [RCV002293459] Chr5:112839253 [GRCh38]
Chr5:112174950 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6729A>C (p.Thr2243=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537081]|Hereditary cancer-predisposing syndrome [RCV001186970]|not provided [RCV001704679] Chr5:112842323 [GRCh38]
Chr5:112178020 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4827A>G (p.Pro1609=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232528]|Hereditary cancer-predisposing syndrome [RCV000582128] Chr5:112840421 [GRCh38]
Chr5:112176118 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5208A>C (p.Lys1736Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582154] Chr5:112840802 [GRCh38]
Chr5:112176499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6679G>A (p.Gly2227Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582163] Chr5:112842273 [GRCh38]
Chr5:112177970 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653193]|Hereditary cancer-predisposing syndrome [RCV000582187] Chr5:112827913 [GRCh38]
Chr5:112163610 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3429T>C (p.Tyr1143=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537262]|Hereditary cancer-predisposing syndrome [RCV000584181]|not specified [RCV000582197] Chr5:112839023 [GRCh38]
Chr5:112174720 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4689A>G (p.Leu1563=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538358]|Hereditary cancer-predisposing syndrome [RCV000582217] Chr5:112840283 [GRCh38]
Chr5:112175980 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3195A>G (p.Gln1065=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653201]|Hereditary cancer-predisposing syndrome [RCV000582229]|not provided [RCV001545033] Chr5:112838789 [GRCh38]
Chr5:112174486 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-9del deletion Familial adenomatous polyposis 1 [RCV003767292]|Hereditary cancer-predisposing syndrome [RCV000583887]|not provided [RCV003478308] Chr5:112780781 [GRCh38]
Chr5:112116478 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1627G>T (p.Val543Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530760]|Familial adenomatous polyposis 1 [RCV003537249]|Hereditary cancer-predisposing syndrome [RCV000583892] Chr5:112828856 [GRCh38]
Chr5:112164553 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1860T>A (p.Leu620=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529130]|Hereditary cancer-predisposing syndrome [RCV000583815] Chr5:112835067 [GRCh38]
Chr5:112170764 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8025C>G (p.Pro2675=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583909] Chr5:112843619 [GRCh38]
Chr5:112179316 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1953C>A (p.Asp651Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653197]|Hereditary cancer-predisposing syndrome [RCV000583968] Chr5:112835160 [GRCh38]
Chr5:112170857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-18T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653212]|not specified [RCV000583883] Chr5:112766308 [GRCh38]
Chr5:112102005 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5685C>T (p.Thr1895=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584028] Chr5:112841279 [GRCh38]
Chr5:112176976 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6853G>A (p.Val2285Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530773]|Hereditary cancer-predisposing syndrome [RCV000584052]|not specified [RCV000779721] Chr5:112842447 [GRCh38]
Chr5:112178144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7967A>G (p.Asp2656Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530881]|Familial adenomatous polyposis 1 [RCV003538394]|Hereditary cancer-predisposing syndrome [RCV001185311]|not provided [RCV000587099] Chr5:112843561 [GRCh38]
Chr5:112179258 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.234T>G (p.Asp78Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538390]|not provided [RCV000587191] Chr5:112767202 [GRCh38]
Chr5:112102899 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5315C>G (p.Pro1772Arg) single nucleotide variant not provided [RCV000587351] Chr5:112840909 [GRCh38]
Chr5:112176606 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6434G>T (p.Gly2145Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538409]|Hereditary cancer-predisposing syndrome [RCV001025262]|not specified [RCV000600635] Chr5:112842028 [GRCh38]
Chr5:112177725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.566T>G (p.Leu189Trp) single nucleotide variant not provided [RCV000587517] Chr5:112780824 [GRCh38]
Chr5:112116521 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4693G>T (p.Asp1565Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003465320]|Hereditary cancer-predisposing syndrome [RCV001184958]|not provided [RCV000587652]|not specified [RCV001800814] Chr5:112840287 [GRCh38]
Chr5:112175984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3577C>T (p.Gln1193Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530817]|Familial adenomatous polyposis 1 [RCV003538388]|Hereditary cancer-predisposing syndrome [RCV000774952]|not provided [RCV000581241] Chr5:112839171 [GRCh38]
Chr5:112174868 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.135+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003337320]|Hereditary cancer-predisposing syndrome [RCV000583549]|not provided [RCV000582751] Chr5:112755027 [GRCh38]
Chr5:112090724 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5102_5104del (p.Gln1701_Gly1702delinsArg) deletion Familial adenomatous polyposis 1 [RCV003537229]|Hereditary cancer-predisposing syndrome [RCV000579858] Chr5:112840696..112840698 [GRCh38]
Chr5:112176393..112176395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7870A>G (p.Asn2624Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003153750]|Familial adenomatous polyposis 1 [RCV003537237]|Hereditary cancer-predisposing syndrome [RCV000579961] Chr5:112843464 [GRCh38]
Chr5:112179161 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7335A>G (p.Lys2445=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767164]|Hereditary cancer-predisposing syndrome [RCV000567783] Chr5:112842929 [GRCh38]
Chr5:112178626 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7716A>G (p.Ser2572=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530297]|Hereditary cancer-predisposing syndrome [RCV000565391] Chr5:112843310 [GRCh38]
Chr5:112179007 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3906G>A (p.Leu1302=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537189]|Hereditary cancer-predisposing syndrome [RCV000565477] Chr5:112839500 [GRCh38]
Chr5:112175197 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5431T>G (p.Ser1811Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528085]|Familial adenomatous polyposis 1 [RCV003537174]|Hereditary cancer-predisposing syndrome [RCV000565613] Chr5:112841025 [GRCh38]
Chr5:112176722 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30642A>G single nucleotide variant not specified [RCV000607512] Chr5:112707302 [GRCh38]
Chr5:112042999 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.3101A>T (p.Glu1034Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742670] Chr5:112838695 [GRCh38]
Chr5:112174392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8148G>A (p.Val2716=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232665]|Hereditary cancer-predisposing syndrome [RCV000568143] Chr5:112843742 [GRCh38]
Chr5:112179439 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5974C>T (p.Pro1992Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529070]|Familial adenomatous polyposis 1 [RCV003537231]|Hereditary cancer-predisposing syndrome [RCV000580121] Chr5:112841568 [GRCh38]
Chr5:112177265 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1682del (p.Lys561fs) deletion Colorectal cancer [RCV001789779]|Familial adenomatous polyposis 1 [RCV003336082] Chr5:112828907 [GRCh38]
Chr5:112164604 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2903G>A (p.Ser968Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530874]|Hereditary cancer-predisposing syndrome [RCV003159988]|not provided [RCV000588134] Chr5:112838497 [GRCh38]
Chr5:112174194 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8214A>G (p.Ile2738Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742811]|Hereditary cancer-predisposing syndrome [RCV003159870] Chr5:112843808 [GRCh38]
Chr5:112179505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4941A>C (p.Thr1647=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537072]|Hereditary cancer-predisposing syndrome [RCV003338659] Chr5:112840535 [GRCh38]
Chr5:112176232 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6245A>G (p.Asp2082Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232098]|Familial adenomatous polyposis 1 [RCV003476334]|Hereditary cancer-predisposing syndrome [RCV000565808]|not provided [RCV000679077] Chr5:112841839 [GRCh38]
Chr5:112177536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2170dup (p.Ala724fs) duplication not provided [RCV000581895] Chr5:112837763..112837764 [GRCh38]
Chr5:112173460..112173461 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3527del (p.Pro1176fs) deletion Familial adenomatous polyposis 1 [RCV002530816]|Hereditary cancer-predisposing syndrome [RCV002341493]|not provided [RCV000582794] Chr5:112839120 [GRCh38]
Chr5:112174817 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1626+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003336076]|Hereditary cancer-predisposing syndrome [RCV002404585]|not provided [RCV000583632] Chr5:112828007 [GRCh38]
Chr5:112163704 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6236A>C (p.Asp2079Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537232]|Hereditary cancer-predisposing syndrome [RCV000579432]|not provided [RCV001800796] Chr5:112841830 [GRCh38]
Chr5:112177527 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5971G>A (p.Glu1991Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579542] Chr5:112841565 [GRCh38]
Chr5:112177262 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6520A>G (p.Ser2174Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653183]|Hereditary cancer-predisposing syndrome [RCV000579649]|not provided [RCV002289848] Chr5:112842114 [GRCh38]
Chr5:112177811 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7378G>C (p.Ala2460Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767267]|Hereditary cancer-predisposing syndrome [RCV000579671]|not provided [RCV003156263] Chr5:112842972 [GRCh38]
Chr5:112178669 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5725A>G (p.Lys1909Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767265]|Hereditary cancer-predisposing syndrome [RCV000579722] Chr5:112841319 [GRCh38]
Chr5:112177016 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7032A>T (p.Gln2344His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767266]|Hereditary cancer-predisposing syndrome [RCV000579731] Chr5:112842626 [GRCh38]
Chr5:112178323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2563G>A (p.Glu855Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537220]|Hereditary cancer-predisposing syndrome [RCV000579740] Chr5:112838157 [GRCh38]
Chr5:112173854 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8036C>T (p.Thr2679Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537238]|Hereditary cancer-predisposing syndrome [RCV000579772] Chr5:112843630 [GRCh38]
Chr5:112179327 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5417C>T (p.Ser1806Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767264]|Hereditary cancer-predisposing syndrome [RCV000579803] Chr5:112841011 [GRCh38]
Chr5:112176708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2997A>G (p.Gln999=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653200]|Hereditary cancer-predisposing syndrome [RCV000582150] Chr5:112838591 [GRCh38]
Chr5:112174288 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.655G>A (p.Ala219Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744596]|Hereditary cancer-predisposing syndrome [RCV000582255] Chr5:112792455 [GRCh38]
Chr5:112128152 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2223T>C (p.Asn741=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155354]|Familial adenomatous polyposis 1 [RCV003537256]|Hereditary cancer-predisposing syndrome [RCV000582279] Chr5:112837817 [GRCh38]
Chr5:112173514 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.551T>C (p.Met184Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529155]|Hereditary cancer-predisposing syndrome [RCV000582295]|not provided [RCV001775905] Chr5:112780809 [GRCh38]
Chr5:112116506 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4100A>T (p.Gln1367Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582367] Chr5:112839694 [GRCh38]
Chr5:112175391 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7599T>C (p.Ser2533=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582372] Chr5:112843193 [GRCh38]
Chr5:112178890 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5442G>T (p.Gln1814His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582380] Chr5:112841036 [GRCh38]
Chr5:112176733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2685A>C (p.Ser895=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653199]|Hereditary cancer-predisposing syndrome [RCV000582385] Chr5:112838279 [GRCh38]
Chr5:112173976 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-12T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653190]|Hereditary cancer-predisposing syndrome [RCV000582406]|not provided [RCV001637091] Chr5:112766314 [GRCh38]
Chr5:112102011 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2325T>C (p.Asn775=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744592]|Hereditary cancer-predisposing syndrome [RCV000584058] Chr5:112837919 [GRCh38]
Chr5:112173616 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7189G>A (p.Ala2397Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538379]|Hereditary cancer-predisposing syndrome [RCV000584076] Chr5:112842783 [GRCh38]
Chr5:112178480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5996C>G (p.Pro1999Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529161]|Hereditary cancer-predisposing syndrome [RCV000584103] Chr5:112841590 [GRCh38]
Chr5:112177287 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3847G>C (p.Ala1283Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584035] Chr5:112839441 [GRCh38]
Chr5:112175138 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1438C>A (p.Gln480Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584066] Chr5:112827137 [GRCh38]
Chr5:112162834 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7802G>A (p.Ser2601Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538380]|Hereditary cancer-predisposing syndrome [RCV000584158] Chr5:112843396 [GRCh38]
Chr5:112179093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1461G>T (p.Gly487=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232509]|Hereditary cancer-predisposing syndrome [RCV000584159] Chr5:112827160 [GRCh38]
Chr5:112162857 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1089T>C (p.Asn363=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653187]|Hereditary cancer-predisposing syndrome [RCV000584095]|not provided [RCV001548470] Chr5:112819121 [GRCh38]
Chr5:112154818 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6954T>C (p.Ser2318=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232544]|Hereditary cancer-predisposing syndrome [RCV000584177] Chr5:112842548 [GRCh38]
Chr5:112178245 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2016T>C (p.His672=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653198]|Hereditary cancer-predisposing syndrome [RCV000584185] Chr5:112837610 [GRCh38]
Chr5:112173307 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8072A>T (p.Asn2691Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538384]|Hereditary cancer-predisposing syndrome [RCV000584192] Chr5:112843666 [GRCh38]
Chr5:112179363 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3490A>G (p.Ile1164Val) single nucleotide variant Desmoid disease, hereditary [RCV002491132]|Familial adenomatous polyposis 1 [RCV002528949]|Hereditary cancer-predisposing syndrome [RCV000568313] Chr5:112839084 [GRCh38]
Chr5:112174781 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7182T>C (p.Ser2394=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767323]|Hereditary cancer-predisposing syndrome [RCV000775347]|not specified [RCV000588316] Chr5:112842776 [GRCh38]
Chr5:112178473 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6381del (p.Ala2128fs) deletion Familial adenomatous polyposis 1 [RCV003744603]|not provided [RCV000598959] Chr5:112841974 [GRCh38]
Chr5:112177671 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7490C>G (p.Ser2497Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744577]|Hereditary cancer-predisposing syndrome [RCV000565939] Chr5:112843084 [GRCh38]
Chr5:112178781 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6280C>T (p.Pro2094Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744585]|Hereditary cancer-predisposing syndrome [RCV000580092] Chr5:112841874 [GRCh38]
Chr5:112177571 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6379C>G (p.Gln2127Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537233]|Hereditary cancer-predisposing syndrome [RCV000580129] Chr5:112841973 [GRCh38]
Chr5:112177670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3469G>C (p.Glu1157Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537224]|Hereditary cancer-predisposing syndrome [RCV000580188]|not specified [RCV001251376] Chr5:112839063 [GRCh38]
Chr5:112174760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2023A>G (p.Thr675Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744578]|Hereditary cancer-predisposing syndrome [RCV000580200] Chr5:112837617 [GRCh38]
Chr5:112173314 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2494C>T (p.Pro832Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653178]|Hereditary cancer-predisposing syndrome [RCV000580256] Chr5:112838088 [GRCh38]
Chr5:112173785 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3914C>G (p.Ala1305Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580260] Chr5:112839508 [GRCh38]
Chr5:112175205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3601T>C (p.Ser1201Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526945]|Familial adenomatous polyposis 1 [RCV003537225]|Hereditary cancer-predisposing syndrome [RCV000580291] Chr5:112839195 [GRCh38]
Chr5:112174892 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6727A>G (p.Thr2243Ala) single nucleotide variant Desmoid disease, hereditary [RCV002476261]|Familial adenomatous polyposis 1 [RCV003537234]|Hereditary cancer-predisposing syndrome [RCV000580325]|not provided [RCV001584395] Chr5:112842321 [GRCh38]
Chr5:112178018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+4G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002530761]|Familial adenomatous polyposis 1 [RCV003537254]|Hereditary cancer-predisposing syndrome [RCV000582451] Chr5:112766414 [GRCh38]
Chr5:112102111 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5181_5195del (p.Cys1727_Met1732delinsTrp) deletion Familial adenomatous polyposis 1 [RCV002232531]|Hereditary cancer-predisposing syndrome [RCV000582351] Chr5:112840775..112840789 [GRCh38]
Chr5:112176472..112176486 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2388T>C (p.Tyr796=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537257]|Hereditary cancer-predisposing syndrome [RCV000582496] Chr5:112837982 [GRCh38]
Chr5:112173679 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1923T>C (p.Asn641=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744591]|Hereditary cancer-predisposing syndrome [RCV000582517] Chr5:112835130 [GRCh38]
Chr5:112170827 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6009A>G (p.Gln2003=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538368]|Hereditary cancer-predisposing syndrome [RCV000582518] Chr5:112841603 [GRCh38]
Chr5:112177300 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3214A>C (p.Ser1072Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582549] Chr5:112838808 [GRCh38]
Chr5:112174505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2772A>G (p.Arg924=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584225] Chr5:112838366 [GRCh38]
Chr5:112174063 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6426C>T (p.Ile2142=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744595]|Hereditary cancer-predisposing syndrome [RCV000584227] Chr5:112842020 [GRCh38]
Chr5:112177717 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.771T>G (p.Ala257=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653211]|Hereditary cancer-predisposing syndrome [RCV000584247] Chr5:112801320 [GRCh38]
Chr5:112137017 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.537C>G (p.Ser179=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584268] Chr5:112780795 [GRCh38]
Chr5:112116492 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4329T>G (p.Pro1443=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584274] Chr5:112839923 [GRCh38]
Chr5:112175620 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4612G>C (p.Glu1538Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232525]|Hereditary cancer-predisposing syndrome [RCV000584287] Chr5:112840206 [GRCh38]
Chr5:112175903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-14T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003767280]|Hereditary cancer-predisposing syndrome [RCV000584312] Chr5:112827915 [GRCh38]
Chr5:112163612 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.1312+3A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568374] Chr5:112819347 [GRCh38]
Chr5:112155044 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1919G>A (p.Arg640Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743781]|Hereditary cancer-predisposing syndrome [RCV000579934] Chr5:112835126 [GRCh38]
Chr5:112170823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.211C>T (p.Arg71Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530873]|Familial adenomatous polyposis 1 [RCV003538389]|Hereditary cancer-predisposing syndrome [RCV002420556]|not provided [RCV000588634] Chr5:112766401 [GRCh38]
Chr5:112102098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6880G>A (p.Gly2294Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767038]|Hereditary cancer-predisposing syndrome [RCV002367895]|not specified [RCV002248773] Chr5:112842474 [GRCh38]
Chr5:112178171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7069A>G (p.Lys2357Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653184]|Hereditary cancer-predisposing syndrome [RCV000580353] Chr5:112842663 [GRCh38]
Chr5:112178360 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7742G>C (p.Ser2581Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580381] Chr5:112843336 [GRCh38]
Chr5:112179033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1862C>T (p.Thr621Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530373]|Hereditary cancer-predisposing syndrome [RCV000580453] Chr5:112835069 [GRCh38]
Chr5:112170766 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1478A>G (p.Tyr493Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529056]|Familial adenomatous polyposis 1 [RCV003537216]|Hereditary cancer-predisposing syndrome [RCV000580474]|not specified [RCV001553562] Chr5:112827177 [GRCh38]
Chr5:112162874 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3869A>C (p.Asn1290Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744581]|Hereditary cancer-predisposing syndrome [RCV000580475] Chr5:112839463 [GRCh38]
Chr5:112175160 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3147G>C (p.Trp1049Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580486] Chr5:112838741 [GRCh38]
Chr5:112174438 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3932T>C (p.Ile1311Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744582]|Hereditary cancer-predisposing syndrome [RCV000580557] Chr5:112839526 [GRCh38]
Chr5:112175223 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.287A>G (p.Tyr96Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526942]|Hereditary cancer-predisposing syndrome [RCV000580580] Chr5:112767255 [GRCh38]
Chr5:112102952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3052G>C (p.Asp1018His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580480] Chr5:112838646 [GRCh38]
Chr5:112174343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4109A>C (p.Lys1370Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580639] Chr5:112839703 [GRCh38]
Chr5:112175400 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.869G>C (p.Ser290Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537241]|Hereditary cancer-predisposing syndrome [RCV000580652] Chr5:112815529 [GRCh38]
Chr5:112151226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.719C>G (p.Thr240Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537235]|Hereditary cancer-predisposing syndrome [RCV000580661] Chr5:112792519 [GRCh38]
Chr5:112128216 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8207C>T (p.Thr2736Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529079]|Familial adenomatous polyposis 1 [RCV003537239]|Hereditary cancer-predisposing syndrome [RCV000580663]|not provided [RCV000985324] Chr5:112843801 [GRCh38]
Chr5:112179498 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3679A>G (p.Arg1227Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580670] Chr5:112839273 [GRCh38]
Chr5:112174970 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6826C>T (p.Pro2276Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000822493]|Hereditary cancer-predisposing syndrome [RCV000580695] Chr5:112842420 [GRCh38]
Chr5:112178117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3725A>G (p.Gln1242Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744580]|Hereditary cancer-predisposing syndrome [RCV000580720]|not provided [RCV001775904] Chr5:112839319 [GRCh38]
Chr5:112175016 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7237A>G (p.Lys2413Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580749] Chr5:112842831 [GRCh38]
Chr5:112178528 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5225G>T (p.Arg1742Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767263]|Hereditary cancer-predisposing syndrome [RCV000580755] Chr5:112840819 [GRCh38]
Chr5:112176516 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3853G>A (p.Asp1285Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232683]|Hereditary cancer-predisposing syndrome [RCV000580784] Chr5:112839447 [GRCh38]
Chr5:112175144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+19C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653194]|Hereditary cancer-predisposing syndrome [RCV000582583] Chr5:112828025 [GRCh38]
Chr5:112163722 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.681C>T (p.Asp227=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538373]|Hereditary cancer-predisposing syndrome [RCV000582589] Chr5:112792481 [GRCh38]
Chr5:112128178 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2306T>C (p.Leu769Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582611] Chr5:112837900 [GRCh38]
Chr5:112173597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7160A>G (p.Asn2387Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538378]|Hereditary cancer-predisposing syndrome [RCV000582615] Chr5:112842754 [GRCh38]
Chr5:112178451 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-2A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003336059]|Hereditary cancer-predisposing syndrome [RCV000582622]|not provided [RCV001356338] Chr5:112827106 [GRCh38]
Chr5:112162803 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.729+3T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582484] Chr5:112792532 [GRCh38]
Chr5:112128229 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1458_1460delinsCGA (p.Gly487Glu) indel Hereditary cancer-predisposing syndrome [RCV000582681] Chr5:112827157..112827159 [GRCh38]
Chr5:112162854..112162856 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4917A>G (p.Pro1639=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538360]|Hereditary cancer-predisposing syndrome [RCV000582742] Chr5:112840511 [GRCh38]
Chr5:112176208 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1367T>C (p.Leu456Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582744] Chr5:112821950 [GRCh38]
Chr5:112157647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.51G>A (p.Lys17=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584368] Chr5:112754941 [GRCh38]
Chr5:112090638 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3151A>C (p.Arg1051=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232519]|Hereditary cancer-predisposing syndrome [RCV000584372]|not specified [RCV003488707] Chr5:112838745 [GRCh38]
Chr5:112174442 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6204G>T (p.Met2068Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584378] Chr5:112841798 [GRCh38]
Chr5:112177495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1295A>T (p.Asp432Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537243]|Hereditary cancer-predisposing syndrome [RCV000584387] Chr5:112819327 [GRCh38]
Chr5:112155024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1803G>C (p.Glu601Asp) single nucleotide variant Colon cancer [RCV000677756]|Familial adenomatous polyposis 1 [RCV002232695]|Hereditary cancer-predisposing syndrome [RCV000584394] Chr5:112835010 [GRCh38]
Chr5:112170707 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6530A>G (p.Glu2177Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584414] Chr5:112842124 [GRCh38]
Chr5:112177821 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8255A>G (p.Asn2752Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003117351]|Hereditary cancer-predisposing syndrome [RCV000584437] Chr5:112843849 [GRCh38]
Chr5:112179546 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5169T>G (p.Ile1723Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767291]|Hereditary cancer-predisposing syndrome [RCV000584454] Chr5:112840763 [GRCh38]
Chr5:112176460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1489C>T (p.Leu497=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584475] Chr5:112827188 [GRCh38]
Chr5:112162885 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7858T>C (p.Phe2620Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584490] Chr5:112843452 [GRCh38]
Chr5:112179149 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4225C>A (p.Pro1409Thr) single nucleotide variant not provided [RCV000588238] Chr5:112839819 [GRCh38]
Chr5:112175516 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6488A>T (p.Lys2163Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744602]|Hereditary cancer-predisposing syndrome [RCV002358644]|not provided [RCV000588775] Chr5:112842082 [GRCh38]
Chr5:112177779 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1110G>A (p.Leu370=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653216]|not specified [RCV000588803] Chr5:112819142 [GRCh38]
Chr5:112154839 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1234C>G (p.Gln412Glu) single nucleotide variant not provided [RCV000588901] Chr5:112819266 [GRCh38]
Chr5:112154963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3088A>C (p.Lys1030Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742668]|not provided [RCV003105954] Chr5:112838682 [GRCh38]
Chr5:112174379 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2786A>G (p.His929Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537221]|Hereditary cancer-predisposing syndrome [RCV000580821] Chr5:112838380 [GRCh38]
Chr5:112174077 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1092C>G (p.Asp364Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580826] Chr5:112819124 [GRCh38]
Chr5:112154821 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8396C>T (p.Ser2799Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653186]|Hereditary cancer-predisposing syndrome [RCV000580830]|Neoplasm of the liver [RCV000677762]|not provided [RCV001799689] Chr5:112843990 [GRCh38]
Chr5:112179687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8365A>G (p.Ser2789Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537240]|Hereditary cancer-predisposing syndrome [RCV000580847] Chr5:112843959 [GRCh38]
Chr5:112179656 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2495C>G (p.Pro832Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471921]|Hereditary cancer-predisposing syndrome [RCV000580850] Chr5:112838089 [GRCh38]
Chr5:112173786 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6346C>T (p.His2116Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580866] Chr5:112841940 [GRCh38]
Chr5:112177637 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5381A>G (p.Asp1794Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529069]|Hereditary cancer-predisposing syndrome [RCV000580874] Chr5:112840975 [GRCh38]
Chr5:112176672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2545G>T (p.Asp849Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537219]|Hereditary cancer-predisposing syndrome [RCV000580880] Chr5:112838139 [GRCh38]
Chr5:112173836 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6710G>A (p.Arg2237Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646255]|Hereditary cancer-predisposing syndrome [RCV000580883]|not provided [RCV001755965] Chr5:112842304 [GRCh38]
Chr5:112178001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4558G>A (p.Val1520Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537227]|Hereditary cancer-predisposing syndrome [RCV000580885] Chr5:112840152 [GRCh38]
Chr5:112175849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5213A>T (p.His1738Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529068]|Hereditary cancer-predisposing syndrome [RCV000580747]|not provided [RCV003324771] Chr5:112840807 [GRCh38]
Chr5:112176504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7049C>G (p.Ser2350Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580911] Chr5:112842643 [GRCh38]
Chr5:112178340 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1139G>C (p.Arg380Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526940]|Hereditary cancer-predisposing syndrome [RCV000580846] Chr5:112819171 [GRCh38]
Chr5:112154868 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2191G>A (p.Ala731Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537218]|Hereditary cancer-predisposing syndrome [RCV000580891]|not provided [RCV001584394] Chr5:112837785 [GRCh38]
Chr5:112173482 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1272G>C (p.Gln424His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580974] Chr5:112819304 [GRCh38]
Chr5:112155001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2599A>G (p.Thr867Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581013] Chr5:112838193 [GRCh38]
Chr5:112173890 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6423A>G (p.Gly2141=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582767] Chr5:112842017 [GRCh38]
Chr5:112177714 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5924T>A (p.Ile1975Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459437]|Hereditary cancer-predisposing syndrome [RCV000582786] Chr5:112841518 [GRCh38]
Chr5:112177215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4323A>T (p.Pro1441=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767287]|Hereditary cancer-predisposing syndrome [RCV000582799] Chr5:112839917 [GRCh38]
Chr5:112175614 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+11_1958+12del microsatellite Familial adenomatous polyposis 1 [RCV003537251]|Hereditary cancer-predisposing syndrome [RCV000582851] Chr5:112835174..112835175 [GRCh38]
Chr5:112170871..112170872 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6347A>G (p.His2116Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529164]|Familial adenomatous polyposis 1 [RCV003538370]|Hereditary cancer-predisposing syndrome [RCV000582865] Chr5:112841941 [GRCh38]
Chr5:112177638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-14A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538363]|Hereditary cancer-predisposing syndrome [RCV000582879] Chr5:112780776 [GRCh38]
Chr5:112116473 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.488A>G (p.Gln163Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582882] Chr5:112775694 [GRCh38]
Chr5:112111391 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.686T>G (p.Leu229Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582904] Chr5:112792486 [GRCh38]
Chr5:112128183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2662G>T (p.Ala888Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537259]|Hereditary cancer-predisposing syndrome [RCV000584507] Chr5:112838256 [GRCh38]
Chr5:112173953 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6991C>G (p.Pro2331Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767295]|Hereditary cancer-predisposing syndrome [RCV000584534] Chr5:112842585 [GRCh38]
Chr5:112178282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3537T>C (p.Tyr1179=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232703]|Hereditary cancer-predisposing syndrome [RCV000584468] Chr5:112839131 [GRCh38]
Chr5:112174828 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7726G>A (p.Ala2576Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002404586]|not specified [RCV000584585] Chr5:112843320 [GRCh38]
Chr5:112179017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5137T>C (p.Leu1713=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584593] Chr5:112840731 [GRCh38]
Chr5:112176428 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1562C>G (p.Ser521Cys) single nucleotide variant APC-Associated Polyposis Disorders [RCV001154527]|Familial adenomatous polyposis 1 [RCV003537245]|Hereditary cancer-predisposing syndrome [RCV000584625] Chr5:112827942 [GRCh38]
Chr5:112163639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6273T>C (p.Gly2091=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653209]|Hereditary cancer-predisposing syndrome [RCV000584634] Chr5:112841867 [GRCh38]
Chr5:112177564 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8281C>G (p.Pro2761Ala) single nucleotide variant not provided [RCV000588580] Chr5:112843875 [GRCh38]
Chr5:112179572 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4993C>G (p.Pro1665Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535964]|Hereditary cancer-predisposing syndrome [RCV001185620]|not specified [RCV003151152] Chr5:112840587 [GRCh38]
Chr5:112176284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-3T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537196]|Hereditary cancer-predisposing syndrome [RCV000568909] Chr5:112775626 [GRCh38]
Chr5:112111323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7175C>A (p.Pro2392Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742780]|Hereditary cancer-predisposing syndrome [RCV001026118]|not provided [RCV003327418] Chr5:112842769 [GRCh38]
Chr5:112178466 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4326T>C (p.Pro1442=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537110]|Hereditary cancer-predisposing syndrome [RCV000568977]|not specified [RCV001844199] Chr5:112839920 [GRCh38]
Chr5:112175617 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4416A>C (p.Val1472=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537068]|not specified [RCV000616218] Chr5:112840010 [GRCh38]
Chr5:112175707 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1141del (p.Ala381fs) deletion Familial adenomatous polyposis 1 [RCV003337314]|Hereditary cancer-predisposing syndrome [RCV000568993] Chr5:112819171 [GRCh38]
Chr5:112154868 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1431del (p.Glu477fs) deletion Familial adenomatous polyposis 1 [RCV003335505]|Hereditary cancer-predisposing syndrome [RCV000569036] Chr5:112827129 [GRCh38]
Chr5:112162826 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7548G>A (p.Glu2516=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742789] Chr5:112843142 [GRCh38]
Chr5:112178839 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1100C>G (p.Ser367Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002456280]|not provided [RCV000587080] Chr5:112819132 [GRCh38]
Chr5:112154829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-128G>C single nucleotide variant APC-related condition [RCV003960352]|Desmoid disease, hereditary [RCV000764557]|Familial adenomatous polyposis 1 [RCV003537048] Chr5:112707590 [GRCh38]
Chr5:112043287 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.-182G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002528474] Chr5:112707536 [GRCh38]
Chr5:112043233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3152G>C (p.Arg1051Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581109] Chr5:112838746 [GRCh38]
Chr5:112174443 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4614_4619del (p.Ser1539_Glu1540del) deletion Familial adenomatous polyposis 1 [RCV003653181]|Hereditary cancer-predisposing syndrome [RCV000581120] Chr5:112840204..112840209 [GRCh38]
Chr5:112175901..112175906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7864C>A (p.Pro2622Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537236]|Hereditary cancer-predisposing syndrome [RCV000581127] Chr5:112843458 [GRCh38]
Chr5:112179155 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-20T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003767277]|Hereditary cancer-predisposing syndrome [RCV000581146] Chr5:112827088 [GRCh38]
Chr5:112162785 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5976C>A (p.Pro1992=) single nucleotide variant APC-related condition [RCV003900296]|Familial adenomatous polyposis 1 [RCV002529160]|Hereditary cancer-predisposing syndrome [RCV000581162]|not specified [RCV001193535] Chr5:112841570 [GRCh38]
Chr5:112177267 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.281G>A (p.Arg94His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744579]|Hereditary cancer-predisposing syndrome [RCV000581085]|not provided [RCV003318600]|not specified [RCV002268207] Chr5:112767249 [GRCh38]
Chr5:112102946 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1046A>G (p.Gln349Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581196] Chr5:112819078 [GRCh38]
Chr5:112154775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5658A>G (p.Glu1886=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001152938]|Hereditary cancer-predisposing syndrome [RCV000581204] Chr5:112841252 [GRCh38]
Chr5:112176949 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.673G>A (p.Glu225Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002289857]|Familial adenomatous polyposis 1 [RCV002529166]|Familial adenomatous polyposis 1 [RCV003538372]|Hereditary cancer-predisposing syndrome [RCV000581214] Chr5:112792473 [GRCh38]
Chr5:112128170 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-17A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537248]|Hereditary cancer-predisposing syndrome [RCV000582911] Chr5:112828839 [GRCh38]
Chr5:112164536 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5499A>G (p.Arg1833=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582931] Chr5:112841093 [GRCh38]
Chr5:112176790 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2867A>G (p.Tyr956Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767283]|Hereditary cancer-predisposing syndrome [RCV000582978] Chr5:112838461 [GRCh38]
Chr5:112174158 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1481G>A (p.Ser494Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529121]|Hereditary cancer-predisposing syndrome [RCV000582998]|not provided [RCV000985285]|not specified [RCV000780841] Chr5:112827180 [GRCh38]
Chr5:112162877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6091A>G (p.Ser2031Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583008] Chr5:112841685 [GRCh38]
Chr5:112177382 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2711_2712del (p.Arg904fs) deletion Familial adenomatous polyposis 1 [RCV002529139]|Familial adenomatous polyposis 1 [RCV003537261]|Hereditary cancer-predisposing syndrome [RCV000582895] Chr5:112838304..112838305 [GRCh38]
Chr5:112174001..112174002 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2451C>A (p.Gly817=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583051] Chr5:112838045 [GRCh38]
Chr5:112173742 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.811A>C (p.Met271Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583062] Chr5:112801360 [GRCh38]
Chr5:112137057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2632T>C (p.Leu878=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537258]|Hereditary cancer-predisposing syndrome [RCV000584665] Chr5:112838226 [GRCh38]
Chr5:112173923 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8181G>A (p.Gln2727=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538385]|Hereditary cancer-predisposing syndrome [RCV000584547] Chr5:112843775 [GRCh38]
Chr5:112179472 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5794A>G (p.Thr1932Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744594]|Hereditary cancer-predisposing syndrome [RCV000584686] Chr5:112841388 [GRCh38]
Chr5:112177085 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4764A>T (p.Ser1588=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653205]|Hereditary cancer-predisposing syndrome [RCV000584716] Chr5:112840358 [GRCh38]
Chr5:112176055 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2107dup (p.Ala703fs) duplication Familial adenomatous polyposis 1 [RCV003537252]|Hereditary cancer-predisposing syndrome [RCV000584717] Chr5:112837696..112837697 [GRCh38]
Chr5:112173393..112173394 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3526C>T (p.Pro1176Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767286]|Hereditary cancer-predisposing syndrome [RCV000584607]|not provided [RCV003478307] Chr5:112839120 [GRCh38]
Chr5:112174817 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.466G>C (p.Asp156His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767289]|Hereditary cancer-predisposing syndrome [RCV000584639] Chr5:112775672 [GRCh38]
Chr5:112111369 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1535A>T (p.Asp512Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653361] Chr5:112827234 [GRCh38]
Chr5:112162931 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5318C>T (p.Thr1773Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742731]|Hereditary cancer-predisposing syndrome [RCV002350316] Chr5:112840912 [GRCh38]
Chr5:112176609 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30712G>A single nucleotide variant not specified [RCV000606532] Chr5:112707232 [GRCh38]
Chr5:112042929 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1009A>G (p.Met337Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653215]|Hereditary cancer-predisposing syndrome [RCV000776695]|not provided [RCV000589782] Chr5:112819041 [GRCh38]
Chr5:112154738 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2697C>T (p.Thr899=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767209]|Hereditary cancer-predisposing syndrome [RCV000567106] Chr5:112838291 [GRCh38]
Chr5:112173988 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-5T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742598]|Hereditary cancer-predisposing syndrome [RCV002431655] Chr5:112767184 [GRCh38]
Chr5:112102881 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5580T>C (p.Asp1860=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581175] Chr5:112841174 [GRCh38]
Chr5:112176871 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7604G>A (p.Ser2535Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987584]|Hereditary cancer-predisposing syndrome [RCV000581290] Chr5:112843198 [GRCh38]
Chr5:112178895 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-20T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744588]|Hereditary cancer-predisposing syndrome [RCV000581295] Chr5:112766306 [GRCh38]
Chr5:112102003 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-3T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002232694]|Hereditary cancer-predisposing syndrome [RCV000583077]|not provided [RCV000826981] Chr5:112834948 [GRCh38]
Chr5:112170645 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5792C>A (p.Ser1931Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538367]|Hereditary cancer-predisposing syndrome [RCV000583079] Chr5:112841386 [GRCh38]
Chr5:112177083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4222G>A (p.Glu1408Lys) single nucleotide variant not specified [RCV000583098] Chr5:112839816 [GRCh38]
Chr5:112175513 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+19T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537253]|Hereditary cancer-predisposing syndrome [RCV000583115] Chr5:112766429 [GRCh38]
Chr5:112102126 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5404G>C (p.Glu1802Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538365]|Hereditary cancer-predisposing syndrome [RCV000583140] Chr5:112840998 [GRCh38]
Chr5:112176695 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5115C>T (p.Thr1705=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767290]|Hereditary cancer-predisposing syndrome [RCV000583141] Chr5:112840709 [GRCh38]
Chr5:112176406 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+18A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003767294]|Hereditary cancer-predisposing syndrome [RCV000583158] Chr5:112780921 [GRCh38]
Chr5:112116618 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6933A>G (p.Arg2311=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538375]|Hereditary cancer-predisposing syndrome [RCV000583167] Chr5:112842527 [GRCh38]
Chr5:112178224 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1959-15_1959-14del deletion Familial adenomatous polyposis 1 [RCV003117350]|Hereditary cancer-predisposing syndrome [RCV000583185] Chr5:112837538..112837539 [GRCh38]
Chr5:112173235..112173236 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5734G>A (p.Ala1912Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350412]|not provided [RCV000589208] Chr5:112841328 [GRCh38]
Chr5:112177025 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1272G>A (p.Gln424=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537193]|Hereditary cancer-predisposing syndrome [RCV000569175]|not provided [RCV001722533]|not specified [RCV001824833] Chr5:112819304 [GRCh38]
Chr5:112155001 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5990G>A (p.Gly1997Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767154]|Hereditary cancer-predisposing syndrome [RCV000569179] Chr5:112841584 [GRCh38]
Chr5:112177281 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.903T>G (p.Pro301=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744542]|Hereditary cancer-predisposing syndrome [RCV001524418] Chr5:112815563 [GRCh38]
Chr5:112151260 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.195G>C (p.Gln65His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744600]|not provided [RCV000590138] Chr5:112766385 [GRCh38]
Chr5:112102082 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4693G>A (p.Asp1565Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232216]|not provided [RCV000590266] Chr5:112840287 [GRCh38]
Chr5:112175984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1995A>G (p.Leu665=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652021]|Hereditary cancer-predisposing syndrome [RCV000567318]|not specified [RCV001821671] Chr5:112837589 [GRCh38]
Chr5:112173286 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7664C>T (p.Ser2555Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742792]|Hereditary cancer-predisposing syndrome [RCV002395426] Chr5:112843258 [GRCh38]
Chr5:112178955 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-32T>C single nucleotide variant not provided [RCV000833671]|not specified [RCV000593628] Chr5:112780758 [GRCh38]
Chr5:112116455 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7086A>G (p.Gly2362=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538376]|Hereditary cancer-predisposing syndrome [RCV000581350] Chr5:112842680 [GRCh38]
Chr5:112178377 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6321T>C (p.Gly2107=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581362] Chr5:112841915 [GRCh38]
Chr5:112177612 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+19C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000663201]|Familial adenomatous polyposis 1 [RCV003744598]|Hereditary cancer-predisposing syndrome [RCV000581372] Chr5:112815612 [GRCh38]
Chr5:112151309 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1617C>T (p.Asp539=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537247]|Hereditary cancer-predisposing syndrome [RCV000581377] Chr5:112827997 [GRCh38]
Chr5:112163694 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3822T>C (p.Cys1274=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538355]|Hereditary cancer-predisposing syndrome [RCV000581380] Chr5:112839416 [GRCh38]
Chr5:112175113 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3251A>T (p.Asp1084Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767284]|Hereditary cancer-predisposing syndrome [RCV000581391]|not provided [RCV001284353] Chr5:112838845 [GRCh38]
Chr5:112174542 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5872A>T (p.Asn1958Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581419] Chr5:112841466 [GRCh38]
Chr5:112177163 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.483A>G (p.Gln161=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538359]|Hereditary cancer-predisposing syndrome [RCV000581424] Chr5:112775689 [GRCh38]
Chr5:112111386 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1321C>A (p.Pro441Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767276]|Hereditary cancer-predisposing syndrome [RCV000583252]|not specified [RCV001192944] Chr5:112821904 [GRCh38]
Chr5:112157601 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7439A>G (p.Gln2480Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583265] Chr5:112843033 [GRCh38]
Chr5:112178730 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5698C>G (p.Leu1900Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583285] Chr5:112841292 [GRCh38]
Chr5:112176989 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4667C>A (p.Thr1556Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767288]|Hereditary cancer-predisposing syndrome [RCV000583182] Chr5:112840261 [GRCh38]
Chr5:112175958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548+18G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583309] Chr5:112827265 [GRCh38]
Chr5:112162962 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.9A>C (p.Ala3=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583343] Chr5:112754899 [GRCh38]
Chr5:112090596 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3035_3037delinsT (p.Asn1012fs) indel Familial multiple polyposis syndrome [RCV000588314] Chr5:112838629..112838631 [GRCh38]
Chr5:112174326..112174328 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.*650T>C single nucleotide variant APC-Associated Polyposis Disorders [RCV001151906] Chr5:112844776 [GRCh38]
Chr5:112180473 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+18C>T single nucleotide variant not specified [RCV000604204] Chr5:112737943 [GRCh38]
Chr5:112073640 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3775A>T (p.Ile1259Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538391]|not provided [RCV000590453] Chr5:112839369 [GRCh38]
Chr5:112175066 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+9C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002530877]|Hereditary cancer-predisposing syndrome [RCV000776342]|not provided [RCV000590516] Chr5:112775746 [GRCh38]
Chr5:112111443 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6865A>G (p.Thr2289Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653210]|Hereditary cancer-predisposing syndrome [RCV000581447]|not provided [RCV001550075] Chr5:112842459 [GRCh38]
Chr5:112178156 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2696C>A (p.Thr899Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537260]|Hereditary cancer-predisposing syndrome [RCV000581451] Chr5:112838290 [GRCh38]
Chr5:112173987 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+8T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653195]|Hereditary cancer-predisposing syndrome [RCV000581464] Chr5:112828014 [GRCh38]
Chr5:112163711 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3710A>G (p.Gln1237Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581465] Chr5:112839304 [GRCh38]
Chr5:112175001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7266T>A (p.Thr2422=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233469]|Hereditary cancer-predisposing syndrome [RCV000581467]|not provided [RCV001200170] Chr5:112842860 [GRCh38]
Chr5:112178557 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5244C>T (p.Asp1748=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653206]|Hereditary cancer-predisposing syndrome [RCV000581472]|not provided [RCV001707746] Chr5:112840838 [GRCh38]
Chr5:112176535 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.8490T>C (p.Ser2830=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529177]|Hereditary cancer-predisposing syndrome [RCV000581484] Chr5:112844084 [GRCh38]
Chr5:112179781 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6804C>T (p.Thr2268=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581528] Chr5:112842398 [GRCh38]
Chr5:112178095 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+8G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537244]|Hereditary cancer-predisposing syndrome [RCV000581428] Chr5:112755033 [GRCh38]
Chr5:112090730 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5673G>T (p.Glu1891Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767293]|Hereditary cancer-predisposing syndrome [RCV000581560] Chr5:112841267 [GRCh38]
Chr5:112176964 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+23T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003316775]|not provided [RCV001557938]|not specified [RCV000583366] Chr5:112792552 [GRCh38]
Chr5:112128249 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.422+10C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538357]|Hereditary cancer-predisposing syndrome [RCV000583391] Chr5:112767400 [GRCh38]
Chr5:112103097 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2475T>C (p.Tyr825=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767282]|Hereditary cancer-predisposing syndrome [RCV000583333] Chr5:112838069 [GRCh38]
Chr5:112173766 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-19A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653191]|Hereditary cancer-predisposing syndrome [RCV000583413] Chr5:112766307 [GRCh38]
Chr5:112102004 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-11A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537255]|Hereditary cancer-predisposing syndrome [RCV000583455] Chr5:112767178 [GRCh38]
Chr5:112102875 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8280C>T (p.Thr2760=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538386]|Hereditary cancer-predisposing syndrome [RCV000583463] Chr5:112843874 [GRCh38]
Chr5:112179571 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7138A>C (p.Lys2380Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537205]|Hereditary cancer-predisposing syndrome [RCV000567622] Chr5:112842732 [GRCh38]
Chr5:112178429 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002526174]|Familial adenomatous polyposis 1 [RCV003651945] Chr5:112827248 [GRCh38]
Chr5:112162945 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7239G>A (p.Lys2413=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537144]|Hereditary cancer-predisposing syndrome [RCV000567676]|not specified [RCV000605180] Chr5:112842833 [GRCh38]
Chr5:112178530 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6154A>C (p.Lys2052Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767215]|Hereditary cancer-predisposing syndrome [RCV000567690] Chr5:112841748 [GRCh38]
Chr5:112177445 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.224T>C (p.Leu75Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742602]|Hereditary cancer-predisposing syndrome [RCV001014931] Chr5:112767192 [GRCh38]
Chr5:112102889 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.442C>A (p.Leu148Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537178]|Hereditary cancer-predisposing syndrome [RCV000568928] Chr5:112775648 [GRCh38]
Chr5:112111345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.711C>G (p.Ser237=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538401]|Hereditary cancer-predisposing syndrome [RCV001026062]|not provided [RCV001697888] Chr5:112792511 [GRCh38]
Chr5:112128208 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4501del (p.Ser1501fs) deletion Familial adenomatous polyposis 1 [RCV000806415]|Familial adenomatous polyposis 1 [RCV003336200] Chr5:112840092 [GRCh38]
Chr5:112175789 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4999A>G (p.Asn1667Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646350]|Familial adenomatous polyposis 1 [RCV003538361]|Hereditary cancer-predisposing syndrome [RCV000581567]|not provided [RCV001764701] Chr5:112840593 [GRCh38]
Chr5:112176290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6565A>C (p.Lys2189Gln) single nucleotide variant not specified [RCV000581488] Chr5:112842159 [GRCh38]
Chr5:112177856 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-20C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653196]|Hereditary cancer-predisposing syndrome [RCV000581607] Chr5:112834931 [GRCh38]
Chr5:112170628 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6966G>A (p.Gln2322=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232545]|Hereditary cancer-predisposing syndrome [RCV000581619] Chr5:112842560 [GRCh38]
Chr5:112178257 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1458_1459inv (p.Gly487Arg) inversion Familial adenomatous polyposis 1 [RCV003767278]|Hereditary cancer-predisposing syndrome [RCV000581657] Chr5:112827157..112827158 [GRCh38]
Chr5:112162854..112162855 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5382C>T (p.Asp1794=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538364]|Hereditary cancer-predisposing syndrome [RCV000581659] Chr5:112840976 [GRCh38]
Chr5:112176673 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.347G>A (p.Gly116Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744593]|Hereditary cancer-predisposing syndrome [RCV000581664] Chr5:112767315 [GRCh38]
Chr5:112103012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5739T>C (p.Ile1913=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581681] Chr5:112841333 [GRCh38]
Chr5:112177030 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1250G>C (p.Cys417Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767275]|Hereditary cancer-predisposing syndrome [RCV000581691] Chr5:112819282 [GRCh38]
Chr5:112154979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4634C>A (p.Ser1545Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337322]|Hereditary cancer-predisposing syndrome [RCV000581695] Chr5:112840228 [GRCh38]
Chr5:112175925 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6881G>A (p.Gly2294Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538374]|Hereditary cancer-predisposing syndrome [RCV000581711] Chr5:112842475 [GRCh38]
Chr5:112178172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-17del deletion Familial adenomatous polyposis 1 [RCV003538387]|Hereditary cancer-predisposing syndrome [RCV000581719]|not provided [RCV000679095] Chr5:112818947 [GRCh38]
Chr5:112154644 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.2655C>T (p.Ala885=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529135]|Hereditary cancer-predisposing syndrome [RCV000583501]|not specified [RCV001192796] Chr5:112838249 [GRCh38]
Chr5:112173946 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7995C>T (p.Pro2665=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538383]|Hereditary cancer-predisposing syndrome [RCV000583553] Chr5:112843589 [GRCh38]
Chr5:112179286 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+4C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003767281]|Hereditary cancer-predisposing syndrome [RCV000583572]|not provided [RCV000590026] Chr5:112828010 [GRCh38]
Chr5:112163707 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.46T>C (p.Ser16Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742637] Chr5:112707763 [GRCh38]
Chr5:112043460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6985A>T (p.Ile2329Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537138]|Hereditary cancer-predisposing syndrome [RCV000569090] Chr5:112842579 [GRCh38]
Chr5:112178276 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.67G>A (p.Gly23Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537039] Chr5:112707784 [GRCh38]
Chr5:112043481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30605A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651967] Chr5:112707339 [GRCh38]
Chr5:112043036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.316C>T (p.Arg106Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767026]|Hereditary cancer-predisposing syndrome [RCV001018945] Chr5:112767284 [GRCh38]
Chr5:112102981 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6880G>C (p.Gly2294Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538490]|Hereditary cancer-predisposing syndrome [RCV002360604] Chr5:112842474 [GRCh38]
Chr5:112178171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1283A>G (p.Glu428Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528177]|Familial adenomatous polyposis 1 [RCV003538528]|Hereditary cancer-predisposing syndrome [RCV002386083]|not provided [RCV001284230]|not specified [RCV002248842] Chr5:112819315 [GRCh38]
Chr5:112155012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3404A>G (p.Tyr1135Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767285]|Hereditary cancer-predisposing syndrome [RCV000581738]|Ovarian cancer [RCV003153753] Chr5:112838998 [GRCh38]
Chr5:112174695 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.8115T>C (p.Asn2705=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744597]|Hereditary cancer-predisposing syndrome [RCV000581568] Chr5:112843709 [GRCh38]
Chr5:112179406 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1218C>T (p.Val406=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653188]|Hereditary cancer-predisposing syndrome [RCV000581803] Chr5:112819250 [GRCh38]
Chr5:112154947 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7859T>A (p.Phe2620Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538381]|Hereditary cancer-predisposing syndrome [RCV000581808] Chr5:112843453 [GRCh38]
Chr5:112179150 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5687G>A (p.Ser1896Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653208]|Hereditary cancer-predisposing syndrome [RCV000581818]|not provided [RCV000679069] Chr5:112841281 [GRCh38]
Chr5:112176978 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5326G>A (p.Val1776Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653207]|Hereditary cancer-predisposing syndrome [RCV000581741] Chr5:112840920 [GRCh38]
Chr5:112176617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4574T>G (p.Met1525Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581843] Chr5:112840168 [GRCh38]
Chr5:112175865 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1503T>G (p.Ala501=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767279]|Hereditary cancer-predisposing syndrome [RCV000581875] Chr5:112827202 [GRCh38]
Chr5:112162899 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5280C>A (p.Pro1760=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583539] Chr5:112840874 [GRCh38]
Chr5:112176571 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.154C>T (p.Gln52Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336060]|Hereditary cancer-predisposing syndrome [RCV000583640] Chr5:112766344 [GRCh38]
Chr5:112102041 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3675C>G (p.Ala1225=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653202]|Hereditary cancer-predisposing syndrome [RCV000583641] Chr5:112839269 [GRCh38]
Chr5:112174966 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1871G>C (p.Ser624Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744590]|Hereditary cancer-predisposing syndrome [RCV000583674] Chr5:112835078 [GRCh38]
Chr5:112170775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6254G>A (p.Arg2085Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538369]|Hereditary cancer-predisposing syndrome [RCV000583677] Chr5:112841848 [GRCh38]
Chr5:112177545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4754C>G (p.Thr1585Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529149]|Familial adenomatous polyposis 1 [RCV003653204]|Hereditary cancer-predisposing syndrome [RCV000583688] Chr5:112840348 [GRCh38]
Chr5:112176045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3203C>G (p.Ser1068Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337321]|Hereditary cancer-predisposing syndrome [RCV000583699] Chr5:112838797 [GRCh38]
Chr5:112174494 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1409-19C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653192]|Hereditary cancer-predisposing syndrome [RCV000583711] Chr5:112827089 [GRCh38]
Chr5:112162786 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1811C>T (p.Ala604Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744589]|Hereditary cancer-predisposing syndrome [RCV000583720]|not provided [RCV001755969] Chr5:112835018 [GRCh38]
Chr5:112170715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7932T>A (p.Ile2644=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538382]|Hereditary cancer-predisposing syndrome [RCV000583664] Chr5:112843526 [GRCh38]
Chr5:112179223 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5603A>T (p.Asp1868Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652028]|Hereditary cancer-predisposing syndrome [RCV000569164]|not provided [RCV003319381] Chr5:112841197 [GRCh38]
Chr5:112176894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5850G>A (p.Lys1950=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652032]|Hereditary cancer-predisposing syndrome [RCV000569240] Chr5:112841444 [GRCh38]
Chr5:112177141 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7667C>T (p.Ser2556Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000532913]|Familial adenomatous polyposis 1 [RCV002231508]|Familial adenomatous polyposis 1 [RCV003742793]|Hereditary cancer-predisposing syndrome [RCV001026682] Chr5:112843261 [GRCh38]
Chr5:112178958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-4A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537210]|Hereditary cancer-predisposing syndrome [RCV000569292] Chr5:112827925 [GRCh38]
Chr5:112163622 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5067C>A (p.Thr1689=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581929] Chr5:112840661 [GRCh38]
Chr5:112176358 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7306G>T (p.Val2436Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232546]|Hereditary cancer-predisposing syndrome [RCV000581826]|not specified [RCV001174584] Chr5:112842900 [GRCh38]
Chr5:112178597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1755C>G (p.Leu585=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537250]|Hereditary cancer-predisposing syndrome [RCV000581951] Chr5:112834962 [GRCh38]
Chr5:112170659 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5999G>A (p.Ser2000Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581957] Chr5:112841593 [GRCh38]
Chr5:112177290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4487C>G (p.Thr1496Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653203]|Hereditary cancer-predisposing syndrome [RCV000581992]|Ovarian cancer [RCV003153754] Chr5:112840081 [GRCh38]
Chr5:112175778 [GRCh37]
Chr5:5q22.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6480A>C (p.Thr2160=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538371]|Hereditary cancer-predisposing syndrome [RCV000582001] Chr5:112842074 [GRCh38]
Chr5:112177771 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6569G>C (p.Gly2190Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529165]|Hereditary cancer-predisposing syndrome [RCV000583707] Chr5:112842163 [GRCh38]
Chr5:112177860 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*10A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583787] Chr5:112844136 [GRCh38]
Chr5:112179833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7110T>G (p.Gly2370=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538377]|Hereditary cancer-predisposing syndrome [RCV000583793] Chr5:112842704 [GRCh38]
Chr5:112178401 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5181C>T (p.Cys1727=) single nucleotide variant Familial adenomatous polyposis 1 [RCV001354242]|Familial adenomatous polyposis 1 [RCV003538362]|Hereditary cancer-predisposing syndrome [RCV000583804]|not specified [RCV000779712] Chr5:112840775 [GRCh38]
Chr5:112176472 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.121G>A (p.Ala41Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537242]|Hereditary cancer-predisposing syndrome [RCV000583824] Chr5:112755011 [GRCh38]
Chr5:112090708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5711A>G (p.Gln1904Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529156]|Hereditary cancer-predisposing syndrome [RCV000583836] Chr5:112841305 [GRCh38]
Chr5:112177002 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+13G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583849] Chr5:112775750 [GRCh38]
Chr5:112111447 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3365A>G (p.Asn1122Ser) single nucleotide variant Desmoid disease, hereditary [RCV002491154]|Familial adenomatous polyposis 1 [RCV002529141]|Hereditary cancer-predisposing syndrome [RCV000583866]|not specified [RCV000611424] Chr5:112838959 [GRCh38]
Chr5:112174656 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3933T>C (p.Ile1311=) single nucleotide variant APC-related condition [RCV003900295]|Familial adenomatous polyposis 1 [RCV003538356]|Hereditary cancer-predisposing syndrome [RCV000583879] Chr5:112839527 [GRCh38]
Chr5:112175224 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-3C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002530880]|Familial adenomatous polyposis 1 [RCV003653218]|Hereditary cancer-predisposing syndrome [RCV001178188]|not provided [RCV000586749] Chr5:112801276 [GRCh38]
Chr5:112136973 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6448C>G (p.Leu2150Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538392]|Hereditary cancer-predisposing syndrome [RCV000776793]|not provided [RCV000587011] Chr5:112842042 [GRCh38]
Chr5:112177739 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1580G>C (p.Arg527Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537246]|Hereditary cancer [RCV003492109]|Hereditary cancer-predisposing syndrome [RCV000582026]|not specified [RCV002298697] Chr5:112827960 [GRCh38]
Chr5:112163657 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5782C>G (p.Gln1928Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538366]|Hereditary cancer-predisposing syndrome [RCV000582050] Chr5:112841376 [GRCh38]
Chr5:112177073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2652A>C (p.Ala884=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582059] Chr5:112838246 [GRCh38]
Chr5:112173943 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1346C>T (p.Ala449Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653189]|Hereditary cancer-predisposing syndrome [RCV000582096] Chr5:112821929 [GRCh38]
Chr5:112157626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.48T>C (p.Ser16=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409172]|Familial adenomatous polyposis 1 [RCV003650580] Chr5:112707765 [GRCh38]
Chr5:112043462 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000409307]|Familial adenomatous polyposis 1 [RCV003316511]|Hereditary cancer-predisposing syndrome [RCV002356507] Chr5:112841965 [GRCh38]
Chr5:112177662 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2221A>C (p.Asn741His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537171]|Hereditary cancer-predisposing syndrome [RCV000569990] Chr5:112837815 [GRCh38]
Chr5:112173512 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3631_3632del (p.Met1211fs) microsatellite Familial adenomatous polyposis 1 [RCV002526260]|Familial adenomatous polyposis 1 [RCV003742686]|Hereditary cancer-predisposing syndrome [RCV002456177] Chr5:112839223..112839224 [GRCh38]
Chr5:112174920..112174921 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7401A>C (p.Pro2467=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537173]|Hereditary cancer-predisposing syndrome [RCV000574626] Chr5:112842995 [GRCh38]
Chr5:112178692 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8044G>C (p.Val2682Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574631] Chr5:112843638 [GRCh38]
Chr5:112179335 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.127G>A (p.Gly43Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768523] Chr5:112707844 [GRCh38]
Chr5:112043541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003335497]|Hereditary cancer-predisposing syndrome [RCV000574643] Chr5:112766325 [GRCh38]
Chr5:112102022 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_001127511.3(APC):c.-12T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000409373]|Familial adenomatous polyposis 1 [RCV003650578] Chr5:112707706 [GRCh38]
Chr5:112043403 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6796_6810del (p.Thr2266_Ser2270del) deletion Familial adenomatous polyposis 1 [RCV000409487]|Familial adenomatous polyposis 1 [RCV003743703]|Hereditary cancer-predisposing syndrome [RCV003343801] Chr5:112842390..112842404 [GRCh38]
Chr5:112178087..112178101 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-2C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002528456] Chr5:112707716 [GRCh38]
Chr5:112043413 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3798T>C (p.Asp1266=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537194]|Hereditary cancer-predisposing syndrome [RCV000571720]|not provided [RCV000679058] Chr5:112839392 [GRCh38]
Chr5:112175089 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(112103088_112111325)_(112116601_112128142)del deletion Familial multiple polyposis syndrome [RCV001553559] Chr5:112111325..112116601 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_001127511.3(APC):c.-150G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744662] Chr5:112707568 [GRCh38]
Chr5:112043265 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.83G>A (p.Gly28Asp) single nucleotide variant APC-related condition [RCV003418090]|Familial adenomatous polyposis 1 [RCV000409724]|Familial adenomatous polyposis 1 [RCV002230743] Chr5:112707800 [GRCh38]
Chr5:112043497 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.125G>A (p.Gly42Asp) single nucleotide variant APC-related condition [RCV003892008]|Familial adenomatous polyposis 1 [RCV000409742] Chr5:112707842 [GRCh38]
Chr5:112043539 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-108C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742642] Chr5:112707610 [GRCh38]
Chr5:112043307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6516G>C (p.Glu2172Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459375]|Familial adenomatous polyposis 1 [RCV003744564]|Hereditary cancer-predisposing syndrome [RCV000571793] Chr5:112842110 [GRCh38]
Chr5:112177807 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8054G>C (p.Ser2685Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742807] Chr5:112843648 [GRCh38]
Chr5:112179345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2252C>T (p.Ser751Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767133]|Hereditary cancer-predisposing syndrome [RCV000571844] Chr5:112837846 [GRCh38]
Chr5:112173543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2830A>G (p.Asn944Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000559483]|Familial adenomatous polyposis 1 [RCV003651950]|Hereditary cancer-predisposing syndrome [RCV002438446]|not provided [RCV001555491] Chr5:112838424 [GRCh38]
Chr5:112174121 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.567G>C (p.Leu189Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742744] Chr5:112780825 [GRCh38]
Chr5:112116522 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5894A>G (p.His1965Arg) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155577]|APC-related condition [RCV003419972]|Familial adenomatous polyposis 1 [RCV003651975]|Hereditary cancer-predisposing syndrome [RCV000776164]|not specified [RCV002268157] Chr5:112841488 [GRCh38]
Chr5:112177185 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.933+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000410141]|Familial adenomatous polyposis 1 [RCV003316510]|Familial adenomatous polyposis 1 [RCV003743702]|Hereditary cancer-predisposing syndrome [RCV000491460] Chr5:112815595 [GRCh38]
Chr5:112151292 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.397T>G (p.Tyr133Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000415652]|Hereditary cancer-predisposing syndrome [RCV003168610] Chr5:112767365 [GRCh38]
Chr5:112103062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2723C>G (p.Ser908Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000415716]|Familial adenomatous polyposis 1 [RCV003743706]|Hereditary cancer-predisposing syndrome [RCV001178072] Chr5:112838317 [GRCh38]
Chr5:112174014 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.3880C>T (p.Gln1294Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335469]|Familial adenomatous polyposis 1 [RCV003742695]|Hereditary cancer-predisposing syndrome [RCV001186211]|not provided [RCV001528293] Chr5:112839474 [GRCh38]
Chr5:112175171 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7692dup (p.Arg2565fs) duplication Familial adenomatous polyposis 1 [RCV002530356]|Familial adenomatous polyposis 1 [RCV003537213]|Hereditary cancer-predisposing syndrome [RCV000574718] Chr5:112843284..112843285 [GRCh38]
Chr5:112178981..112178982 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.532-939G>A single nucleotide variant APC-related condition [RCV003970089]|Familial adenomatous polyposis 1 [RCV000409642] Chr5:112779851 [GRCh38]
Chr5:112115548 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-17T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV000409893]|Hereditary cancer-predisposing syndrome [RCV000775130]|not specified [RCV000440820] Chr5:112827091 [GRCh38]
Chr5:112162788 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.423-28G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000410109] Chr5:112775601 [GRCh38]
Chr5:112111298 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.122C>T (p.Pro41Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410173]|Familial adenomatous polyposis 1 [RCV002230742] Chr5:112707839 [GRCh38]
Chr5:112043536 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410185]|Hereditary cancer-predisposing syndrome [RCV000580861]|not provided [RCV001575254]|not specified [RCV001194172] Chr5:112842559 [GRCh38]
Chr5:112178256 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.934-14C>T single nucleotide variant APC-Associated Polyposis Disorders [RCV001151509]|Familial adenomatous polyposis 1 [RCV000410782]|Hereditary cancer-predisposing syndrome [RCV000583876]|not provided [RCV001618683] Chr5:112818952 [GRCh38]
Chr5:112154649 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.876G>C (p.Leu292Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000410953]|Familial adenomatous polyposis 1 [RCV002230744]|Gastrointestinal stromal tumor [RCV000677755]|Hereditary cancer-predisposing syndrome [RCV001178393] Chr5:112815536 [GRCh38]
Chr5:112151233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-20A>G single nucleotide variant APC-related condition [RCV003902455]|Familial adenomatous polyposis 1 [RCV000411036]|Familial adenomatous polyposis 1 [RCV003316517]|Hereditary cancer-predisposing syndrome [RCV000583810] Chr5:112815475 [GRCh38]
Chr5:112151172 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.422+19G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000411339]|Hereditary cancer-predisposing syndrome [RCV000775119]|not specified [RCV000442743] Chr5:112767409 [GRCh38]
Chr5:112103106 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-939G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000412192] Chr5:112779851 [GRCh38]
Chr5:112115548 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3013_3019del (p.Ala1005fs) deletion Familial adenomatous polyposis 1 [RCV000410538] Chr5:112838605..112838611 [GRCh38]
Chr5:112174302..112174308 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4456_4458del (p.Asp1486del) deletion Familial adenomatous polyposis 1 [RCV000410631]|Familial adenomatous polyposis 1 [RCV003650577]|Hereditary cancer-predisposing syndrome [RCV000580184]|not provided [RCV001545855] Chr5:112840049..112840051 [GRCh38]
Chr5:112175746..112175748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+17G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000410745]|Familial adenomatous polyposis 1 [RCV003535695] Chr5:112707899 [GRCh38]
Chr5:112043596 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30459C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651959] Chr5:112707485 [GRCh38]
Chr5:112043182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7085G>C (p.Gly2362Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231595]|Hereditary cancer-predisposing syndrome [RCV000570255] Chr5:112842679 [GRCh38]
Chr5:112178376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8514C>A (p.Tyr2838Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003148797]|Hereditary cancer-predisposing syndrome [RCV000570311] Chr5:112844108 [GRCh38]
Chr5:112179805 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.6401C>G (p.Ser2134Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537079]|Hereditary cancer-predisposing syndrome [RCV000777260] Chr5:112841995 [GRCh38]
Chr5:112177692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7512G>A (p.Trp2504Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571946] Chr5:112843106 [GRCh38]
Chr5:112178803 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3887C>T (p.Ala1296Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530284]|Familial adenomatous polyposis 1 [RCV003537153]|Hereditary cancer-predisposing syndrome [RCV000567820]|not provided [RCV000759427] Chr5:112839481 [GRCh38]
Chr5:112175178 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4290del (p.Met1431fs) deletion Familial adenomatous polyposis 1 [RCV003742707] Chr5:112839883 [GRCh38]
Chr5:112175580 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-167G>A single nucleotide variant Desmoid disease, hereditary [RCV002483458]|Familial adenomatous polyposis 1 [RCV003742653] Chr5:112707551 [GRCh38]
Chr5:112043248 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.71C>T (p.Ser24Phe) single nucleotide variant APC-related condition [RCV003418089]|Familial adenomatous polyposis 1 [RCV000410042]|Familial adenomatous polyposis 1 [RCV003535698]|not specified [RCV002465647] Chr5:112707788 [GRCh38]
Chr5:112043485 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.130G>A (p.Ala44Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000412427]|Familial adenomatous polyposis 1 [RCV003650579]|Inborn genetic diseases [RCV003258803]|not specified [RCV003493564] Chr5:112707847 [GRCh38]
Chr5:112043544 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.221-16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000410932]|Familial adenomatous polyposis 1 [RCV002523894]|Hereditary cancer-predisposing syndrome [RCV001183272] Chr5:112767173 [GRCh38]
Chr5:112102870 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4901del (p.Pro1634fs) deletion Adenomatous colonic polyposis [RCV000415316]|Familial adenomatous polyposis 1 [RCV000755040]|not provided [RCV001269921] Chr5:112840494 [GRCh38]
Chr5:112176191 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2768G>C (p.Arg923Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535700]|Hereditary cancer-predisposing syndrome [RCV001016537]|not provided [RCV000416250] Chr5:112838362 [GRCh38]
Chr5:112174059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112043009)_(112043599_?)dup duplication Familial adenomatous polyposis 1 [RCV000557176]|Familial adenomatous polyposis 1 [RCV001853708] Chr5:112707312..112707902 [GRCh38]
Chr5:112043009..112043599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7711_7716del (p.Ser2571_Ser2572del) deletion Familial adenomatous polyposis 1 [RCV003767044]|Hereditary cancer-predisposing syndrome [RCV001190629] Chr5:112843301..112843306 [GRCh38]
Chr5:112178998..112179003 [GRCh37]
Chr5:5q22.2		 uncertain significance
Single allele duplication Familial adenomatous polyposis 1 [RCV000534711] Chr5:112754885..112767396 [GRCh38]
Chr5:5q22.2		 likely pathogenic
NM_001127511.3(APC):c.165+20T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537038] Chr5:112707902 [GRCh38]
Chr5:112043599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2245T>C (p.Leu749=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767214]|Hereditary cancer-predisposing syndrome [RCV000570484] Chr5:112837839 [GRCh38]
Chr5:112173536 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4540C>G (p.Pro1514Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530275]|Hereditary cancer-predisposing syndrome [RCV000570487] Chr5:112840134 [GRCh38]
Chr5:112175831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2547T>G (p.Asp849Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537119]|Hereditary cancer-predisposing syndrome [RCV000572120] Chr5:112838141 [GRCh38]
Chr5:112173838 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30551C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003651964] Chr5:112707393 [GRCh38]
Chr5:112043090 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter) single nucleotide variant APC-related condition [RCV003403363]|Familial adenomatous polyposis 1 [RCV003335521]|Gastric cancer [RCV003159968]|Hereditary cancer-predisposing syndrome [RCV000573057]|not provided [RCV000657738] Chr5:112841166 [GRCh38]
Chr5:112176863 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30486C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003651961] Chr5:112707458 [GRCh38]
Chr5:112043155 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4858T>G (p.Ser1620Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652020]|Hereditary cancer-predisposing syndrome [RCV000573797] Chr5:112840452 [GRCh38]
Chr5:112176149 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8226A>G (p.Gln2742=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742812]|not provided [RCV001800756]|not specified [RCV000600845] Chr5:112843820 [GRCh38]
Chr5:112179517 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4770A>G (p.Lys1590=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767234]|Hereditary cancer-predisposing syndrome [RCV000573887]|not specified [RCV003117342] Chr5:112840364 [GRCh38]
Chr5:112176061 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8119G>C (p.Gly2707Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574753] Chr5:112843713 [GRCh38]
Chr5:112179410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4591A>C (p.Asn1531His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232417]|Gastrointestinal stromal tumor of small intestine [RCV000677757]|Hereditary cancer-predisposing syndrome [RCV000574767]|Ovarian cancer [RCV003153739] Chr5:112840185 [GRCh38]
Chr5:112175882 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.1548+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000411158]|Hereditary cancer-predisposing syndrome [RCV002402098]|not provided [RCV001800661] Chr5:112827249 [GRCh38]
Chr5:112162946 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_001127511.3(APC):c.3G>A (p.Met1Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000411262]|Familial adenomatous polyposis 1 [RCV003535697] Chr5:112707720 [GRCh38]
Chr5:112043417 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+16A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV000411277]|Familial adenomatous polyposis 1 [RCV003535699]|Hereditary cancer-predisposing syndrome [RCV000579549]|not specified [RCV000434027] Chr5:112815609 [GRCh38]
Chr5:112151306 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1350G>A (p.Val450=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743771] Chr5:112821933 [GRCh38]
Chr5:112157630 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4251T>C (p.Ile1417=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767029]|Hereditary cancer-predisposing syndrome [RCV001186962] Chr5:112839845 [GRCh38]
Chr5:112175542 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3616A>G (p.Ser1206Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742685]|Hereditary cancer-predisposing syndrome [RCV001020732] Chr5:112839210 [GRCh38]
Chr5:112174907 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+3A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572262] Chr5:112801386 [GRCh38]
Chr5:112137083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.111G>A (p.Leu37=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652011]|Hereditary cancer-predisposing syndrome [RCV000572281] Chr5:112755001 [GRCh38]
Chr5:112090698 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5789A>G (p.Gln1930Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742745] Chr5:112841383 [GRCh38]
Chr5:112177080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3642C>A (p.Ser1214Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572307] Chr5:112839236 [GRCh38]
Chr5:112174933 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5067C>T (p.Thr1689=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537202]|Hereditary cancer-predisposing syndrome [RCV000572309] Chr5:112840661 [GRCh38]
Chr5:112176358 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3704C>T (p.Ser1235Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742691] Chr5:112839298 [GRCh38]
Chr5:112174995 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7169G>T (p.Ser2390Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742778]|Hereditary cancer-predisposing syndrome [RCV003278903] Chr5:112842763 [GRCh38]
Chr5:112178460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2700T>C (p.Ser900=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742621] Chr5:112838294 [GRCh38]
Chr5:112173991 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8506G>A (p.Gly2836Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744540]|Hereditary cancer-predisposing syndrome [RCV001017930] Chr5:112844100 [GRCh38]
Chr5:112179797 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7887C>T (p.Thr2629=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744555]|Hereditary cancer-predisposing syndrome [RCV000573442]|not specified [RCV002465716] Chr5:112843481 [GRCh38]
Chr5:112179178 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1820G>C (p.Cys607Ser) single nucleotide variant Desmoid disease, hereditary [RCV002463453]|Familial adenomatous polyposis 1 [RCV001853812]|Hereditary cancer-predisposing syndrome [RCV000573972] Chr5:112835027 [GRCh38]
Chr5:112170724 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30560G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002231946] Chr5:112707384 [GRCh38]
Chr5:112043081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8310C>G (p.His2770Gln) single nucleotide variant APC-related condition [RCV003905490]|Familial adenomatous polyposis 1 [RCV002528951]|Familial adenomatous polyposis 1 [RCV003652031]|Hereditary cancer-predisposing syndrome [RCV000574806]|not provided [RCV001555940] Chr5:112843904 [GRCh38]
Chr5:112179601 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4343C>T (p.Thr1448Ile) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155476]|Familial adenomatous polyposis 1 [RCV002526273]|Hereditary cancer-predisposing syndrome [RCV000708640]|not provided [RCV003328596] Chr5:112839937 [GRCh38]
Chr5:112175634 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.124G>A (p.Gly42Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000411411] Chr5:112707841 [GRCh38]
Chr5:112043538 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-2_1409del deletion Familial adenomatous polyposis 1 [RCV002527572]|Familial adenomatous polyposis 1 [RCV003535806]|Hereditary cancer-predisposing syndrome [RCV002395245]|not provided [RCV000524011] Chr5:112827106..112827108 [GRCh38]
Chr5:112162803..112162805 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.730-10A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003767040]|Hereditary cancer-predisposing syndrome [RCV000776367]|not provided [RCV000840507] Chr5:112801269 [GRCh38]
Chr5:112136966 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.30C>A (p.Val10=) single nucleotide variant APC-related condition [RCV003915585]|Familial adenomatous polyposis 1 [RCV000557808]|Familial adenomatous polyposis 1 [RCV003651952] Chr5:112707747 [GRCh38]
Chr5:112043444 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4570A>G (p.Ile1524Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003105965]|Hereditary cancer-predisposing syndrome [RCV000570780]|not provided [RCV001546318] Chr5:112840164 [GRCh38]
Chr5:112175861 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3047A>T (p.Asp1016Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537164]|Hereditary cancer-predisposing syndrome [RCV000570784] Chr5:112838641 [GRCh38]
Chr5:112174338 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.916A>G (p.Ser306Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527893] Chr5:112815576 [GRCh38]
Chr5:112151273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-109C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742643]|not provided [RCV002292566]|not specified [RCV003320682] Chr5:112707609 [GRCh38]
Chr5:112043306 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.1872C>T (p.Ser624=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652042]|Hereditary cancer-predisposing syndrome [RCV000572440] Chr5:112835079 [GRCh38]
Chr5:112170776 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4241dup (p.Ser1415fs) duplication Familial adenomatous polyposis 1 [RCV002526876]|Familial adenomatous polyposis 1 [RCV003537165]|Hereditary cancer-predisposing syndrome [RCV000573280] Chr5:112839834..112839835 [GRCh38]
Chr5:112175531..112175532 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2909G>A (p.Ser970Asn) single nucleotide variant Carcinoma of colon [RCV001357578]|Familial adenomatous polyposis 1 [RCV003742628]|Hereditary cancer-predisposing syndrome [RCV000579991] Chr5:112838503 [GRCh38]
Chr5:112174200 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6256C>G (p.Pro2086Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742758]|Hereditary cancer-predisposing syndrome [RCV001190911] Chr5:112841850 [GRCh38]
Chr5:112177547 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3956del (p.Pro1319fs) deletion Colorectal cancer [RCV001789774]|Familial adenomatous polyposis 1 [RCV000411669]|Familial adenomatous polyposis 1 [RCV003535696]|not provided [RCV000657193] Chr5:112839549 [GRCh38]
Chr5:112175246 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5952_5955del (p.Glu1985fs) deletion Familial adenomatous polyposis 1 [RCV000411671]|Familial adenomatous polyposis 1 [RCV002230221]|Hereditary cancer-predisposing syndrome [RCV002356506] Chr5:112841544..112841547 [GRCh38]
Chr5:112177241..112177244 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4850_4855del (p.Leu1617_Leu1618del) deletion Familial adenomatous polyposis 1 [RCV000411775]|Familial adenomatous polyposis 1 [RCV002230226]|Hereditary cancer-predisposing syndrome [RCV000574697] Chr5:112840442..112840447 [GRCh38]
Chr5:112176139..112176144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2621C>G (p.Ser874Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335463]|Familial adenomatous polyposis 1 [RCV003742617]|not provided [RCV000758723] Chr5:112838215 [GRCh38]
Chr5:112173912 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526253]|Familial adenomatous polyposis 1 [RCV003537065]|Hereditary cancer-predisposing syndrome [RCV001018532]|not provided [RCV001724055] Chr5:112838677 [GRCh38]
Chr5:112174374 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.3809G>T (p.Cys1270Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537186]|Hereditary cancer-predisposing syndrome [RCV000574134] Chr5:112839403 [GRCh38]
Chr5:112175100 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5341C>T (p.Gln1781Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337310]|Familial adenomatous polyposis 1 [RCV003742730] Chr5:112840935 [GRCh38]
Chr5:112176632 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-74T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002526219] Chr5:112707644 [GRCh38]
Chr5:112043341 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7012CCT[1] (p.Pro2339del) microsatellite Familial adenomatous polyposis 1 [RCV002528081]|Hereditary cancer-predisposing syndrome [RCV000574930] Chr5:112842605..112842607 [GRCh38]
Chr5:112178302..112178304 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6314A>G (p.Gln2105Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574975] Chr5:112841908 [GRCh38]
Chr5:112177605 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5779C>T (p.Leu1927Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV001039244]|Hereditary cancer-predisposing syndrome [RCV000569479] Chr5:112841373 [GRCh38]
Chr5:112177070 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30503G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003537056] Chr5:112707441 [GRCh38]
Chr5:112043138 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5914C>T (p.Leu1972Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537127]|Hereditary cancer-predisposing syndrome [RCV000570954]|not specified [RCV000780849] Chr5:112841508 [GRCh38]
Chr5:112177205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+19A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742631] Chr5:112707901 [GRCh38]
Chr5:112043598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2245T>A (p.Leu749Met) single nucleotide variant APC-related condition [RCV003403313]|Familial adenomatous polyposis 1 [RCV003651947]|Hereditary cancer-predisposing syndrome [RCV000580988] Chr5:112837839 [GRCh38]
Chr5:112173536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.961A>G (p.Met321Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537096]|Hereditary cancer-predisposing syndrome [RCV000580111] Chr5:112818993 [GRCh38]
Chr5:112154690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1906G>A (p.Gly636Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574995] Chr5:112835113 [GRCh38]
Chr5:112170810 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7257G>A (p.Met2419Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537155]|Hereditary cancer-predisposing syndrome [RCV000575005] Chr5:112842851 [GRCh38]
Chr5:112178548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3179_3184del (p.Ile1060_Gln1062delinsLys) deletion Familial adenomatous polyposis 1 [RCV000412331]|Familial adenomatous polyposis 1 [RCV003316515]|Hereditary cancer-predisposing syndrome [RCV001019012] Chr5:112838773..112838778 [GRCh38]
Chr5:112174470..112174475 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30578T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742665] Chr5:112707366 [GRCh38]
Chr5:112043063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3458A>G (p.His1153Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767157]|Hereditary cancer-predisposing syndrome [RCV000569546] Chr5:112839052 [GRCh38]
Chr5:112174749 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6396A>G (p.Ser2132=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652022]|Hereditary cancer-predisposing syndrome [RCV000571199] Chr5:112841990 [GRCh38]
Chr5:112177687 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6022G>A (p.Ala2008Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000558510]|Familial adenomatous polyposis 1 [RCV003742752]|Hereditary cancer-predisposing syndrome [RCV000777263]|not provided [RCV001775868] Chr5:112841616 [GRCh38]
Chr5:112177313 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112151186)_(112179829_?)dup duplication Familial adenomatous polyposis 1 [RCV000538340] Chr5:112815489..112844132 [GRCh38]
Chr5:112151186..112179829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.157G>C (p.Val53Leu) single nucleotide variant APC-related condition [RCV003392395]|Familial adenomatous polyposis 1 [RCV003153715] Chr5:112707874 [GRCh38]
Chr5:112043571 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.665A>T (p.Gln222Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742766]|Hereditary cancer-predisposing syndrome [RCV000580236] Chr5:112792465 [GRCh38]
Chr5:112128162 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4958C>T (p.Thr1653Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744569]|Hereditary cancer-predisposing syndrome [RCV000575096]|not provided [RCV001755954] Chr5:112840552 [GRCh38]
Chr5:112176249 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3221C>T (p.Thr1074Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537109]|Hereditary cancer-predisposing syndrome [RCV000575100] Chr5:112838815 [GRCh38]
Chr5:112174512 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5386A>G (p.Lys1796Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537097]|Hereditary cancer-predisposing syndrome [RCV000575127]|not provided [RCV001578098]|not specified [RCV001526925] Chr5:112840980 [GRCh38]
Chr5:112176677 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7936C>G (p.Gln2646Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742804]|Hereditary cancer-predisposing syndrome [RCV001178556] Chr5:112843530 [GRCh38]
Chr5:112179227 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3607G>T (p.Gly1203Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450956]|not provided [RCV000413595] Chr5:112839201 [GRCh38]
Chr5:112174898 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5113A>G (p.Thr1705Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742726]|Hereditary cancer-predisposing syndrome [RCV002341386]|not provided [RCV000679062] Chr5:112840707 [GRCh38]
Chr5:112176404 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8341del (p.Arg2780_Val2781insTer) deletion Familial adenomatous polyposis 1 [RCV003742814] Chr5:112843935 [GRCh38]
Chr5:112179632 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8304C>T (p.Ser2768=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571525] Chr5:112843898 [GRCh38]
Chr5:112179595 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8106A>G (p.Ala2702=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767146]|Hereditary cancer-predisposing syndrome [RCV000572986] Chr5:112843700 [GRCh38]
Chr5:112179397 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5369G>A (p.Arg1790Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744552]|Hereditary cancer-predisposing syndrome [RCV000574469]|not provided [RCV003126825] Chr5:112840963 [GRCh38]
Chr5:112176660 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3090dup (p.Tyr1031fs) duplication Familial adenomatous polyposis 1 [RCV003337308]|Familial adenomatous polyposis 1 [RCV003742669] Chr5:112838681..112838682 [GRCh38]
Chr5:112174378..112174379 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2415A>G (p.Arg805=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767139]|Hereditary cancer-predisposing syndrome [RCV000561369] Chr5:112838009 [GRCh38]
Chr5:112173706 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5977C>T (p.Pro1993Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767169]|Hereditary cancer-predisposing syndrome [RCV000564200] Chr5:112841571 [GRCh38]
Chr5:112177268 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1487C>T (p.Thr496Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526843]|Familial adenomatous polyposis 1 [RCV003651986]|Hereditary cancer-predisposing syndrome [RCV000565552]|not provided [RCV002285366] Chr5:112827186 [GRCh38]
Chr5:112162883 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4545T>C (p.Phe1515=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742714]|Hereditary cancer-predisposing syndrome [RCV001524419] Chr5:112840139 [GRCh38]
Chr5:112175836 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5218C>T (p.Pro1740Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537074]|Hereditary cancer-predisposing syndrome [RCV001525441] Chr5:112840812 [GRCh38]
Chr5:112176509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30453C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002528477] Chr5:112707491 [GRCh38]
Chr5:112043188 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.34C>T (p.Pro12Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536026] Chr5:112707751 [GRCh38]
Chr5:112043448 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30517C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003536027] Chr5:112707427 [GRCh38]
Chr5:112043124 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6410C>T (p.Ser2137Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574524] Chr5:112842004 [GRCh38]
Chr5:112177701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.748C>T (p.His250Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742785] Chr5:112801297 [GRCh38]
Chr5:112136994 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7213A>C (p.Asn2405His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537156]|Hereditary cancer-predisposing syndrome [RCV000574566] Chr5:112842807 [GRCh38]
Chr5:112178504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5524del (p.Ser1842fs) deletion Familial adenomatous polyposis 1 [RCV003742740] Chr5:112841117 [GRCh38]
Chr5:112176814 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6166C>T (p.Leu2056Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742757]|Hereditary cancer-predisposing syndrome [RCV000583375] Chr5:112841760 [GRCh38]
Chr5:112177457 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.22C>T (p.Gln8Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566225] Chr5:112754912 [GRCh38]
Chr5:112090609 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.626A>T (p.Asp209Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767212]|Hereditary cancer-predisposing syndrome [RCV000573199]|not provided [RCV000679078] Chr5:112780884 [GRCh38]
Chr5:112116581 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4069G>A (p.Gly1357Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526268]|Hereditary cancer-predisposing syndrome [RCV000775327] Chr5:112839663 [GRCh38]
Chr5:112175360 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-17A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000408966]|Familial adenomatous polyposis 1 [RCV003316513]|Hereditary cancer-predisposing syndrome [RCV000580653]|not specified [RCV000439871] Chr5:112780773 [GRCh38]
Chr5:112116470 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-20G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000408971]|Familial adenomatous polyposis 1 [RCV003316516]|Familial adenomatous polyposis 1 [RCV003650581]|Hereditary cancer-predisposing syndrome [RCV000775838]|not provided [RCV001535175] Chr5:112792426 [GRCh38]
Chr5:112128123 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4094G>A (p.Gly1365Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767028]|Hereditary cancer-predisposing syndrome [RCV001191181] Chr5:112839688 [GRCh38]
Chr5:112175385 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.153A>G (p.Leu51=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651993]|Hereditary cancer-predisposing syndrome [RCV000569850] Chr5:112766343 [GRCh38]
Chr5:112102040 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2345A>T (p.Lys782Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530271]|Familial adenomatous polyposis 1 [RCV003651999]|Hereditary cancer-predisposing syndrome [RCV000574588] Chr5:112837939 [GRCh38]
Chr5:112173636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7375T>C (p.Ser2459Pro) single nucleotide variant APC-related condition [RCV003900259]|Familial adenomatous polyposis 1 [RCV003651987]|Hereditary cancer-predisposing syndrome [RCV000574594] Chr5:112842969 [GRCh38]
Chr5:112178666 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-73C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537044] Chr5:112707645 [GRCh38]
Chr5:112043342 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.761C>T (p.Ser254Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767043]|Hereditary cancer-predisposing syndrome [RCV001185231]|not provided [RCV001755855] Chr5:112801310 [GRCh38]
Chr5:112137007 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5982C>A (p.Asp1994Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742749]|Hereditary cancer-predisposing syndrome [RCV001189643] Chr5:112841576 [GRCh38]
Chr5:112177273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1856C>A (p.Thr619Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529006]|Familial adenomatous polyposis 1 [RCV003652041]|Hereditary cancer-predisposing syndrome [RCV000567948] Chr5:112835063 [GRCh38]
Chr5:112170760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6869C>T (p.Ser2290Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744573]|Hereditary cancer-predisposing syndrome [RCV000567949]|not provided [RCV000985315] Chr5:112842463 [GRCh38]
Chr5:112178160 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30574C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651966] Chr5:112707370 [GRCh38]
Chr5:112043067 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1539A>G (p.Val513=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651944]|Hereditary cancer-predisposing syndrome [RCV000775132] Chr5:112827238 [GRCh38]
Chr5:112162935 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.295C>A (p.Arg99=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767015]|Hereditary cancer-predisposing syndrome [RCV003584661] Chr5:112767263 [GRCh38]
Chr5:112102960 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3557A>T (p.Asp1186Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742682]|Hereditary cancer-predisposing syndrome [RCV001020603] Chr5:112839151 [GRCh38]
Chr5:112174848 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1 copy number loss See cases [RCV000446959] Chr5:110407606..122522885 [GRCh37]
Chr5:5q22.1-23.2		 pathogenic
NM_000038.6(APC):c.1023A>G (p.Gln341=) single nucleotide variant APC-related condition [RCV003897861]|Familial adenomatous polyposis 1 [RCV003743708]|Hereditary cancer-predisposing syndrome [RCV000568024]|not provided [RCV001720067] Chr5:112819055 [GRCh38]
Chr5:112154752 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.894C>T (p.His298=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651833]|Hereditary cancer-predisposing syndrome [RCV000563001]|not provided [RCV001721373] Chr5:112815554 [GRCh38]
Chr5:112151251 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5298T>C (p.Asp1766=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650587]|Hereditary cancer-predisposing syndrome [RCV000493751]|not provided [RCV000679065]|not specified [RCV000427259] Chr5:112840892 [GRCh38]
Chr5:112176589 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.532-7G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002230013]|Hereditary cancer-predisposing syndrome [RCV000579458]|not provided [RCV001720052] Chr5:112780783 [GRCh38]
Chr5:112116480 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-9A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535714]|Hereditary cancer-predisposing syndrome [RCV001186321]|not specified [RCV000434285] Chr5:112827920 [GRCh38]
Chr5:112163617 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8382C>T (p.Ser2794=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535719]|Hereditary cancer-predisposing syndrome [RCV000561197]|not provided [RCV001704348] Chr5:112843976 [GRCh38]
Chr5:112179673 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1687T>C (p.Leu563=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743717]|not specified [RCV000441414] Chr5:112828916 [GRCh38]
Chr5:112164613 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6579A>G (p.Lys2193=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650583]|Hereditary cancer-predisposing syndrome [RCV000491823]|not specified [RCV000417637] Chr5:112842173 [GRCh38]
Chr5:112177870 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8061A>G (p.Ser2687=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766194]|Hereditary cancer-predisposing syndrome [RCV000570768]|not provided [RCV000586668]|not specified [RCV000424043] Chr5:112843655 [GRCh38]
Chr5:112179352 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4410T>G (p.Ala1470=) single nucleotide variant not specified [RCV000427383] Chr5:112840004 [GRCh38]
Chr5:112175701 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7017T>C (p.Pro2339=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525404]|Hereditary cancer-predisposing syndrome [RCV001025930]|not specified [RCV000427413] Chr5:112842611 [GRCh38]
Chr5:112178308 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4725A>G (p.Leu1575=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743721]|Hereditary cancer-predisposing syndrome [RCV003168684]|not specified [RCV000431287] Chr5:112840319 [GRCh38]
Chr5:112176016 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3876G>A (p.Thr1292=) single nucleotide variant APC-related condition [RCV003950344]|Carcinoma of colon [RCV001357108]|Familial adenomatous polyposis 1 [RCV003766193]|Hereditary cancer-predisposing syndrome [RCV000491341]|not provided [RCV001705547]|not specified [RCV000434349] Chr5:112839470 [GRCh38]
Chr5:112175167 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-17C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002522491]|Hereditary cancer-predisposing syndrome [RCV000581097]|not specified [RCV000441709] Chr5:112827912 [GRCh38]
Chr5:112163609 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6837A>G (p.Lys2279=) single nucleotide variant APC-related condition [RCV003897883]|Familial adenomatous polyposis 1 [RCV003766271]|Hereditary cancer-predisposing syndrome [RCV000575673]|not provided [RCV000985314] Chr5:112842431 [GRCh38]
Chr5:112178128 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6855T>C (p.Val2285=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766462]|Hereditary cancer-predisposing syndrome [RCV000493662]|not provided [RCV001696792] Chr5:112842449 [GRCh38]
Chr5:112178146 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4413A>G (p.Ala1471=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743707]|Hereditary cancer-predisposing syndrome [RCV000584123]|not specified [RCV000445305] Chr5:112840007 [GRCh38]
Chr5:112175704 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)x1 copy number loss See cases [RCV000445968] Chr5:100607918..125900735 [GRCh37]
Chr5:5q21.1-23.2		 pathogenic
NM_000038.6(APC):c.1035A>T (p.Ile345=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743712]|Hereditary cancer-predisposing syndrome [RCV001177576]|not specified [RCV000417819] Chr5:112819067 [GRCh38]
Chr5:112154764 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.835-15G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000662944]|Familial adenomatous polyposis 1 [RCV003316544]|Hereditary cancer-predisposing syndrome [RCV001190189]|not specified [RCV000420960] Chr5:112815480 [GRCh38]
Chr5:112151177 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-11A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003743710]|Hereditary cancer-predisposing syndrome [RCV000775116]|not provided [RCV001720139] Chr5:112767178 [GRCh38]
Chr5:112102875 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7350A>G (p.Pro2450=) single nucleotide variant not specified [RCV000431552] Chr5:112842944 [GRCh38]
Chr5:112178641 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3654G>A (p.Thr1218=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766439]|Hereditary cancer-predisposing syndrome [RCV000565007]|not specified [RCV000434640] Chr5:112839248 [GRCh38]
Chr5:112174945 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8199A>G (p.Gln2733=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535713]|Hereditary cancer-predisposing syndrome [RCV000563752]|not specified [RCV000441743] Chr5:112843793 [GRCh38]
Chr5:112179490 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7146A>T (p.Thr2382=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766407]|Hereditary cancer-predisposing syndrome [RCV000564349]|not specified [RCV000441760] Chr5:112842740 [GRCh38]
Chr5:112178437 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+12A>G single nucleotide variant APC-Associated Polyposis Disorders [RCV001151510]|Familial adenomatous polyposis 1 [RCV003103993]|Hereditary cancer-predisposing syndrome [RCV000775126]|not specified [RCV000441796] Chr5:112819356 [GRCh38]
Chr5:112155053 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7136C>G (p.Thr2379Ser) single nucleotide variant Desmoid disease, hereditary [RCV002483459]|Familial adenomatous polyposis 1 [RCV002527860]|Hereditary cancer-predisposing syndrome [RCV000568097]|not provided [RCV003222032] Chr5:112842730 [GRCh38]
Chr5:112178427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1449_1450del (p.Cys483_Glu484delinsTer) microsatellite Familial adenomatous polyposis 1 [RCV002526173]|Familial adenomatous polyposis 1 [RCV003535810] Chr5:112827146..112827147 [GRCh38]
Chr5:112162843..112162844 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8218C>T (p.Pro2740Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767168]|Hereditary cancer-predisposing syndrome [RCV000568183] Chr5:112843812 [GRCh38]
Chr5:112179509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2740T>G (p.Cys914Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528073]|Familial adenomatous polyposis 1 [RCV003652018]|Hereditary cancer-predisposing syndrome [RCV000568202]|not provided [RCV002245018] Chr5:112838334 [GRCh38]
Chr5:112174031 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000038.6(APC):c.834+20A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535708]|Hereditary cancer-predisposing syndrome [RCV000580232]|not specified [RCV000418139] Chr5:112801403 [GRCh38]
Chr5:112137100 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4867A>C (p.Arg1623=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535726]|Hereditary cancer-predisposing syndrome [RCV001184466]|not specified [RCV000424279] Chr5:112840461 [GRCh38]
Chr5:112176158 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4143A>C (p.Pro1381=) single nucleotide variant APC-related condition [RCV003897840]|Familial adenomatous polyposis 1 [RCV003535703]|Hereditary cancer-predisposing syndrome [RCV000566135]|not provided [RCV000424349] Chr5:112839737 [GRCh38]
Chr5:112175434 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.4317T>A (p.Pro1439=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766278]|Hereditary cancer-predisposing syndrome [RCV000561986]|not provided [RCV001172164]|not specified [RCV003226293] Chr5:112839911 [GRCh38]
Chr5:112175608 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8291C>G (p.Ser2764Cys) single nucleotide variant APC-related condition [RCV003409585]|Familial adenomatous polyposis 1 [RCV003766195]|Hereditary cancer-predisposing syndrome [RCV001525402]|not provided [RCV000427961] Chr5:112843885 [GRCh38]
Chr5:112179582 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4683G>A (p.Lys1561=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535706]|not specified [RCV000434862] Chr5:112840277 [GRCh38]
Chr5:112175974 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3928_3938del (p.Glu1309_Lys1310insTer) deletion Neoplasm [RCV000434934] Chr5:112839522..112839532 [GRCh38]
Chr5:112175219..112175229 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1761C>T (p.Ser587=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002521576]|Hereditary cancer-predisposing syndrome [RCV000571290]|not provided [RCV000539186] Chr5:112834968 [GRCh38]
Chr5:112170665 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1158A>G (p.Ala386=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743713]|Hereditary cancer-predisposing syndrome [RCV000572353]|not provided [RCV001284229]|not specified [RCV000424566] Chr5:112819190 [GRCh38]
Chr5:112154887 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6246T>C (p.Asp2082=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535711]|Hereditary cancer-predisposing syndrome [RCV002365501]|not specified [RCV000428245] Chr5:112841840 [GRCh38]
Chr5:112177537 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-18-7C>G single nucleotide variant not provided [RCV001712377] Chr5:112754866 [GRCh38]
Chr5:112090563 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6012A>G (p.Ala2004=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651820]|Hereditary cancer-predisposing syndrome [RCV000583969]|not provided [RCV001284243] Chr5:112841606 [GRCh38]
Chr5:112177303 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-14C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000663269]|Familial adenomatous polyposis 1 [RCV002521640]|Hereditary cancer-predisposing syndrome [RCV000580402]|not specified [RCV000438531] Chr5:112834937 [GRCh38]
Chr5:112170634 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.221-5T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535728]|Hereditary cancer-predisposing syndrome [RCV001805053]|not provided [RCV000588735]|not specified [RCV000438575] Chr5:112767184 [GRCh38]
Chr5:112102881 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3306C>T (p.Tyr1102=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650582]|Hereditary cancer-predisposing syndrome [RCV001019841]|not specified [RCV000442320] Chr5:112838900 [GRCh38]
Chr5:112174597 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30569A>G single nucleotide variant APC-related condition [RCV003972645]|Familial adenomatous polyposis 1 [RCV002230055]|not specified [RCV000421417] Chr5:112707375 [GRCh38]
Chr5:112043072 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1313-18G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003766192]|Hereditary cancer-predisposing syndrome [RCV000580602]|not specified [RCV000424750] Chr5:112821878 [GRCh38]
Chr5:112157575 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2130C>T (p.Leu710=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651819]|Hereditary cancer-predisposing syndrome [RCV000564171]|not specified [RCV000424760] Chr5:112837724 [GRCh38]
Chr5:112173421 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4396_4400del (p.Ser1465_Gly1466insTer) deletion Neoplasm [RCV000424812] Chr5:112839990..112839994 [GRCh38]
Chr5:112175687..112175691 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.531+16G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000662543]|Hereditary cancer-predisposing syndrome [RCV000580247]|not specified [RCV000428322] Chr5:112775753 [GRCh38]
Chr5:112111450 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.46C>T (p.Leu16=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650586]|Hereditary cancer-predisposing syndrome [RCV000775897]|not specified [RCV000428439] Chr5:112754936 [GRCh38]
Chr5:112090633 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+8A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003651832]|not provided [RCV001200522]|not specified [RCV000438872] Chr5:112821999 [GRCh38]
Chr5:112157696 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5736T>G (p.Ala1912=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002522380]|Hereditary cancer-predisposing syndrome [RCV002348210]|not specified [RCV000418926] Chr5:112841330 [GRCh38]
Chr5:112177027 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1713A>G (p.Ala571=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000551505]|Hereditary cancer-predisposing syndrome [RCV000568491]|not provided [RCV001284234]|not specified [RCV000424947] Chr5:112828942 [GRCh38]
Chr5:112164639 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.6699T>C (p.Ile2233=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535716]|Hereditary cancer-predisposing syndrome [RCV000574513]|not specified [RCV000424964] Chr5:112842293 [GRCh38]
Chr5:112177990 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.775C>A (p.Arg259=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743718]|Hereditary cancer-predisposing syndrome [RCV002411362]|not specified [RCV000428516] Chr5:112801324 [GRCh38]
Chr5:112137021 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6813T>C (p.Pro2271=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650584]|Hereditary cancer-predisposing syndrome [RCV000569072]|not provided [RCV001719995] Chr5:112842407 [GRCh38]
Chr5:112178104 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1548+11A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003766254]|not specified [RCV000442794] Chr5:112827258 [GRCh38]
Chr5:112162955 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6783T>C (p.Pro2261=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651829]|Hereditary cancer-predisposing syndrome [RCV001025641]|not specified [RCV000442820] Chr5:112842377 [GRCh38]
Chr5:112178074 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6477T>C (p.Phe2159=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650589]|Hereditary cancer-predisposing syndrome [RCV001183952]|not specified [RCV000419151] Chr5:112842071 [GRCh38]
Chr5:112177768 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8430T>C (p.Asn2810=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651827]|Hereditary cancer-predisposing syndrome [RCV001017768]|not specified [RCV000425159] Chr5:112844024 [GRCh38]
Chr5:112179721 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5952T>C (p.Asn1984=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155578]|Familial adenomatous polyposis 1 [RCV003766266]|Hereditary cancer-predisposing syndrome [RCV000566862]|not provided [RCV001703802]|not specified [RCV000432139] Chr5:112841546 [GRCh38]
Chr5:112177243 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6903A>G (p.Arg2301=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535709]|Hereditary cancer-predisposing syndrome [RCV001025789]|not specified [RCV000435672] Chr5:112842497 [GRCh38]
Chr5:112178194 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4512C>G (p.Ser1504=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519531]|Hereditary cancer-predisposing syndrome [RCV000776274]|not provided [RCV001284711] Chr5:112840106 [GRCh38]
Chr5:112175803 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7833A>G (p.Thr2611=) single nucleotide variant APC-related condition [RCV003897863]|Familial adenomatous polyposis 1 [RCV003650588]|Hereditary cancer-predisposing syndrome [RCV000490953]|not provided [RCV001535400]|not specified [RCV000443035] Chr5:112843427 [GRCh38]
Chr5:112179124 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7533C>T (p.Leu2511=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000663254]|Familial adenomatous polyposis 1 [RCV003535723]|Hereditary cancer-predisposing syndrome [RCV000566292]|not provided [RCV003477928]|not specified [RCV000425380] Chr5:112843127 [GRCh38]
Chr5:112178824 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001127511.3(APC):c.165+29214A>G single nucleotide variant not specified [RCV000432526] Chr5:112737096 [GRCh38]
Chr5:112072793 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.4669_4676del (p.Thr1556_Ile1557insTer) deletion Neoplasm [RCV000435941] Chr5:112840263..112840270 [GRCh38]
Chr5:112175960..112175967 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1662A>C (p.Arg554=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766282]|Hereditary cancer-predisposing syndrome [RCV002402159]|not specified [RCV000439502] Chr5:112828891 [GRCh38]
Chr5:112164588 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-19A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003651821]|Hereditary cancer-predisposing syndrome [RCV000771554]|not specified [RCV000443113] Chr5:112834932 [GRCh38]
Chr5:112170629 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3027T>C (p.His1009=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535727]|Hereditary cancer-predisposing syndrome [RCV000775972]|not specified [RCV000443163] Chr5:112838621 [GRCh38]
Chr5:112174318 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535701]|Hereditary cancer-predisposing syndrome [RCV001180269]|Neoplasm of the large intestine [RCV000443324]|not provided [RCV000985300] Chr5:112839510 [GRCh38]
Chr5:112175207 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.-19+20T>C single nucleotide variant not specified [RCV000425593] Chr5:112737945 [GRCh38]
Chr5:112073642 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6792T>G (p.Gly2264=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002365551]|not specified [RCV000429317] Chr5:112842386 [GRCh38]
Chr5:112178083 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+7A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003766438]|Hereditary cancer-predisposing syndrome [RCV000581683]|not provided [RCV000875629]|not specified [RCV000429361] Chr5:112835172 [GRCh38]
Chr5:112170869 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4723C>T (p.Leu1575=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743722]|not specified [RCV000432742] Chr5:112840317 [GRCh38]
Chr5:112176014 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1203G>A (p.Arg401=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168678]|not specified [RCV000439723] Chr5:112819235 [GRCh38]
Chr5:112154932 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5922C>T (p.Asp1974=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766329]|not specified [RCV000439736] Chr5:112841516 [GRCh38]
Chr5:112177213 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5232A>G (p.Lys1744=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230007]|Hereditary cancer-predisposing syndrome [RCV001185778]|not provided [RCV001719996] Chr5:112840826 [GRCh38]
Chr5:112176523 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4132C>T (p.Gln1378Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337272]|Hereditary cancer-predisposing syndrome [RCV001021924]|Neoplasm of the large intestine [RCV000443420] Chr5:112839726 [GRCh38]
Chr5:112175423 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.672C>T (p.Ile224=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002522394]|Hereditary cancer-predisposing syndrome [RCV000775122]|not provided [RCV003477927]|not specified [RCV000443534] Chr5:112792472 [GRCh38]
Chr5:112128169 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6453A>C (p.Thr2151=) single nucleotide variant APC-related condition [RCV003942456]|Familial adenomatous polyposis 1 [RCV003766447]|Hereditary cancer-predisposing syndrome [RCV000562381]|not provided [RCV001721462]|not specified [RCV003387845] Chr5:112842047 [GRCh38]
Chr5:112177744 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3393A>G (p.Gln1131=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766206]|Hereditary cancer-predisposing syndrome [RCV000569429]|not provided [RCV001703527] Chr5:112838987 [GRCh38]
Chr5:112174684 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6789A>G (p.Glu2263=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766280]|Hereditary cancer-predisposing syndrome [RCV000579873]|not provided [RCV001697837]|not specified [RCV000425993] Chr5:112842383 [GRCh38]
Chr5:112178080 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6621A>G (p.Ser2207=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651822]|Hereditary cancer-predisposing syndrome [RCV000775900]|not provided [RCV001092764]|not specified [RCV000429511] Chr5:112842215 [GRCh38]
Chr5:112177912 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4386G>A (p.Lys1462=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535718]|Hereditary cancer-predisposing syndrome [RCV000491367]|not specified [RCV000432929] Chr5:112839980 [GRCh38]
Chr5:112175677 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6654A>G (p.Gln2218=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002522418]|Hereditary cancer-predisposing syndrome [RCV001025501]|not specified [RCV000436271] Chr5:112842248 [GRCh38]
Chr5:112177945 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+12G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003766444]|Hereditary cancer-predisposing syndrome [RCV000775921]|not specified [RCV000440035] Chr5:112755037 [GRCh38]
Chr5:112090734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+5C>T single nucleotide variant APC-related condition [RCV003942408]|Familial adenomatous polyposis 1 [RCV003743716]|Hereditary cancer-predisposing syndrome [RCV000582859]|not provided [RCV000985327]|not specified [RCV000440101] Chr5:112815598 [GRCh38]
Chr5:112151295 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5376T>C (p.Asn1792=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230239]|Hereditary cancer-predisposing syndrome [RCV000571384]|not provided [RCV001719998]|not specified [RCV002265758] Chr5:112840970 [GRCh38]
Chr5:112176667 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5481C>A (p.Leu1827=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766219]|Hereditary cancer-predisposing syndrome [RCV001024163]|not specified [RCV000419918] Chr5:112841075 [GRCh38]
Chr5:112176772 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7044A>G (p.Thr2348=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650585]|Hereditary cancer-predisposing syndrome [RCV001025965]|not specified [RCV000419983] Chr5:112842638 [GRCh38]
Chr5:112178335 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-16C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582322]|not specified [RCV000422643] Chr5:112754875 [GRCh38]
Chr5:112090572 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3207G>A (p.Arg1069=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650590]|Hereditary cancer-predisposing syndrome [RCV000563485]|not specified [RCV000426200] Chr5:112838801 [GRCh38]
Chr5:112174498 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4135G>T (p.Glu1379Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335318]|Neoplasm of the large intestine [RCV000426216]|not provided [RCV001725179] Chr5:112839729 [GRCh38]
Chr5:112175426 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3307A>T (p.Arg1103Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002519557]|Familial adenomatous polyposis 1 [RCV003535715]|Hereditary cancer-predisposing syndrome [RCV000580081]|not provided [RCV000429702] Chr5:112838901 [GRCh38]
Chr5:112174598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4285C>T (p.Gln1429Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337273]|Neoplasm of the large intestine [RCV000433006] Chr5:112839879 [GRCh38]
Chr5:112175576 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1743+6T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003766225]|Hereditary cancer-predisposing syndrome [RCV001181807]|not provided [RCV001703644]|not specified [RCV000433034] Chr5:112828978 [GRCh38]
Chr5:112164675 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3897T>A (p.Ala1299=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743711]|Hereditary cancer-predisposing syndrome [RCV002356552]|not specified [RCV000436593] Chr5:112839491 [GRCh38]
Chr5:112175188 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3837T>G (p.Ser1279=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743715]|Hereditary cancer-predisposing syndrome [RCV000564787]|not specified [RCV000440144] Chr5:112839431 [GRCh38]
Chr5:112175128 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.166-29134C>T single nucleotide variant not specified [RCV000443842] Chr5:112737192 [GRCh38]
Chr5:112072889 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.3928_3947del (p.Glu1309_Lys1310insTer) deletion Neoplasm [RCV000418174] Chr5:112839522..112839541 [GRCh38]
Chr5:112175219..112175238 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3567A>G (p.Ser1189=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535722]|Hereditary cancer-predisposing syndrome [RCV000564475]|not specified [RCV000422906] Chr5:112839161 [GRCh38]
Chr5:112174858 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-30C>G single nucleotide variant not specified [RCV000426298] Chr5:112737914 [GRCh38]
Chr5:112073611 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4686C>T (p.Asp1562=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230261]|Hereditary cancer-predisposing syndrome [RCV000572790]|not specified [RCV000426373] Chr5:112840280 [GRCh38]
Chr5:112175977 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1647G>A (p.Arg549=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651823]|Hereditary cancer-predisposing syndrome [RCV001012519]|not specified [RCV000433458] Chr5:112828876 [GRCh38]
Chr5:112164573 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2952A>G (p.Glu984=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230030]|Hereditary cancer-predisposing syndrome [RCV000571501]|not provided [RCV000543399]|not specified [RCV000423032] Chr5:112838546 [GRCh38]
Chr5:112174243 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.1842A>G (p.Ala614=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535704]|Hereditary cancer-predisposing syndrome [RCV001013369]|not provided [RCV001712360] Chr5:112835049 [GRCh38]
Chr5:112170746 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4099C>T (p.Gln1367Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337271]|Neoplasm of the large intestine [RCV000433625]|not provided [RCV001815384] Chr5:112839693 [GRCh38]
Chr5:112175390 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1392T>C (p.His464=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651835]|Hereditary cancer-predisposing syndrome [RCV000572795]|not specified [RCV000433646] Chr5:112821975 [GRCh38]
Chr5:112157672 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.1962A>G (p.Gln654=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766388]|Hereditary cancer-predisposing syndrome [RCV000775915]|not specified [RCV000437124] Chr5:112837556 [GRCh38]
Chr5:112173253 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2745G>A (p.Val915=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535707]|Hereditary cancer-predisposing syndrome [RCV000564906]|not provided [RCV001720023]|not specified [RCV001824761] Chr5:112838339 [GRCh38]
Chr5:112174036 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001354897.2(APC):c.-245A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002230009]|not provided [RCV001810903]|not specified [RCV000430440] Chr5:112707473 [GRCh38]
Chr5:112043170 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.3060A>G (p.Glu1020=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766320]|Hereditary cancer-predisposing syndrome [RCV000565250]|not specified [RCV000430487] Chr5:112838654 [GRCh38]
Chr5:112174351 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-19G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002525415]|Hereditary cancer-predisposing syndrome [RCV001180014]|not specified [RCV000437182] Chr5:112801260 [GRCh38]
Chr5:112136957 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5403T>C (p.Ala1801=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651830]|Hereditary cancer-predisposing syndrome [RCV001024042]|not specified [RCV000444571] Chr5:112840997 [GRCh38]
Chr5:112176694 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2547T>C (p.Asp849=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157041]|APC-related condition [RCV003912634]|Familial adenomatous polyposis 1 [RCV003535705]|Hereditary cancer-predisposing syndrome [RCV000491860]|not provided [RCV001703526] Chr5:112838141 [GRCh38]
Chr5:112173838 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8277T>C (p.Arg2759=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651834]|Hereditary cancer-predisposing syndrome [RCV000570924]|not specified [RCV000426984] Chr5:112843871 [GRCh38]
Chr5:112179568 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.684A>T (p.Ile228=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535712]|Hereditary cancer-predisposing syndrome [RCV000566430]|not specified [RCV000427100] Chr5:112792484 [GRCh38]
Chr5:112128181 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.465A>G (p.Lys155=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766448]|Hereditary cancer-predisposing syndrome [RCV000776475]|not provided [RCV001721463] Chr5:112775671 [GRCh38]
Chr5:112111368 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3543A>G (p.Leu1181=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535720]|Hereditary cancer-predisposing syndrome [RCV000579705]|not specified [RCV000430744] Chr5:112839137 [GRCh38]
Chr5:112174834 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-14A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776225]|not specified [RCV000430749] Chr5:112754877 [GRCh38]
Chr5:112090574 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4341A>G (p.Gln1447=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651826]|Hereditary cancer-predisposing syndrome [RCV000490835]|not provided [RCV001720257]|not specified [RCV003230495] Chr5:112839935 [GRCh38]
Chr5:112175632 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+5A>G single nucleotide variant Carcinoma of colon [RCV001358391]|Familial adenomatous polyposis 1 [RCV003743723]|Hereditary cancer-predisposing syndrome [RCV000568589]|not provided [RCV001704536] Chr5:112835170 [GRCh38]
Chr5:112170867 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-133C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002230008]|not specified [RCV000441233] Chr5:112707585 [GRCh38]
Chr5:112043282 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.6276A>G (p.Leu2092=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230285]|Familial adenomatous polyposis 1 [RCV003766425]|Hereditary cancer-predisposing syndrome [RCV000491901]|not provided [RCV001721439] Chr5:112841870 [GRCh38]
Chr5:112177567 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+17T>G single nucleotide variant not specified [RCV000444870] Chr5:112755042 [GRCh38]
Chr5:112090739 [GRCh37]
Chr5:5q22.2		 likely benign
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3		 pathogenic
NM_000038.6(APC):c.532-8G>A single nucleotide variant Carcinoma of colon [RCV000503571]|Familial adenomatous polyposis 1 [RCV003148748]|Familial multiple polyposis syndrome [RCV002298605]|Hereditary cancer-predisposing syndrome [RCV000491376] Chr5:112780782 [GRCh38]
Chr5:112116479 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1289G>A (p.Gly430Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476102]|Hereditary cancer-predisposing syndrome [RCV001010777] Chr5:112819321 [GRCh38]
Chr5:112155018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1879_1882del (p.Asn627fs) deletion Familial adenomatous polyposis 1 [RCV002230601]|Familial adenomatous polyposis 1 [RCV003337280]|Hereditary cancer-predisposing syndrome [RCV002411510]|not provided [RCV000584256] Chr5:112835083..112835086 [GRCh38]
Chr5:112170780..112170783 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4125C>T (p.His1375=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651906]|Hereditary cancer-predisposing syndrome [RCV001021916]|not specified [RCV000600581] Chr5:112839719 [GRCh38]
Chr5:112175416 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7013C>G (p.Pro2338Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651897]|Hereditary cancer-predisposing syndrome [RCV000571828]|not provided [RCV002269277] Chr5:112842607 [GRCh38]
Chr5:112178304 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2898T>A (p.Ser966Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766552]|Hereditary cancer-predisposing syndrome [RCV001016844] Chr5:112838492 [GRCh38]
Chr5:112174189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6223G>A (p.Asp2075Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651847] Chr5:112841817 [GRCh38]
Chr5:112177514 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.10G>C (p.Ala4Pro) single nucleotide variant Carcinoma of colon [RCV000677758]|Familial adenomatous polyposis 1 [RCV003766584]|Hereditary cancer-predisposing syndrome [RCV001017299]|not provided [RCV001753908] Chr5:112754900 [GRCh38]
Chr5:112090597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112818966)_(112821991_?)del deletion Familial adenomatous polyposis 1 [RCV000466566] Chr5:112818966..112821991 [GRCh38]
Chr5:112154663..112157688 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5406G>C (p.Glu1802Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000466628]|Hereditary cancer-predisposing syndrome [RCV000574193] Chr5:112841000 [GRCh38]
Chr5:112176697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1742del (p.Lys581fs) deletion Familial adenomatous polyposis 1 [RCV002463448]|Familial adenomatous polyposis 1 [RCV003337274] Chr5:112828967 [GRCh38]
Chr5:112164664 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766574]|Hereditary cancer-predisposing syndrome [RCV000571005]|not provided [RCV001556005]|not specified [RCV002268090] Chr5:112842276 [GRCh38]
Chr5:112177973 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6577A>G (p.Lys2193Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651880]|Hereditary cancer-predisposing syndrome [RCV000569629]|not provided [RCV000522688] Chr5:112842171 [GRCh38]
Chr5:112177868 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112737859)_(112815593_?)del deletion Familial adenomatous polyposis 1 [RCV000470226] Chr5:112737859..112815593 [GRCh38]
Chr5:112073556..112151290 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.645G>C (p.Gln215His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651860] Chr5:112780903 [GRCh38]
Chr5:112116600 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8419A>C (p.Thr2807Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000456352]|Hereditary cancer-predisposing syndrome [RCV001179536] Chr5:112844013 [GRCh38]
Chr5:112179710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5357G>A (p.Arg1786Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230145]|Hereditary cancer-predisposing syndrome [RCV000561508]|not provided [RCV003441882] Chr5:112840951 [GRCh38]
Chr5:112176648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5562del (p.Cys1855fs) deletion not provided [RCV000480816] Chr5:112841156 [GRCh38]
Chr5:112176853 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7028C>T (p.Ser2343Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766710]|Hereditary cancer-predisposing syndrome [RCV002367649]|not provided [RCV000479194] Chr5:112842622 [GRCh38]
Chr5:112178319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7931T>C (p.Ile2644Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182225]|not provided [RCV000479261] Chr5:112843525 [GRCh38]
Chr5:112179222 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1298A>T (p.Gln433Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743731]|Hereditary cancer-predisposing syndrome [RCV000564572]|not provided [RCV000479325] Chr5:112819330 [GRCh38]
Chr5:112155027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4325CTC[1] (p.Pro1443del) microsatellite Familial adenomatous polyposis 1 [RCV000708964]|Familial adenomatous polyposis 1 [RCV003651921]|Hereditary cancer-predisposing syndrome [RCV000567844]|not provided [RCV000479368] Chr5:112839918..112839920 [GRCh38]
Chr5:112175615..112175617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19G>C single nucleotide variant not provided [RCV000479397] Chr5:112737925 [GRCh38]
Chr5:112073622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5744A>G (p.Lys1915Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024473]|not provided [RCV000483437] Chr5:112841338 [GRCh38]
Chr5:112177035 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3711G>A (p.Gln1237=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525730]|Hereditary cancer-predisposing syndrome [RCV000582483]|not provided [RCV000826982]|not specified [RCV001284707] Chr5:112839305 [GRCh38]
Chr5:112175002 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7864C>G (p.Pro2622Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470487]|Hereditary cancer-predisposing syndrome [RCV002411509] Chr5:112843458 [GRCh38]
Chr5:112179155 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7118T>G (p.Met2373Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766564]|Hereditary cancer-predisposing syndrome [RCV000573212] Chr5:112842712 [GRCh38]
Chr5:112178409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1747T>G (p.Ser583Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230181]|Hereditary cancer-predisposing syndrome [RCV002402292] Chr5:112834954 [GRCh38]
Chr5:112170651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4200G>A (p.Ser1400=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651899]|Hereditary cancer-predisposing syndrome [RCV000573060]|not provided [RCV001721542]|not specified [RCV000609037] Chr5:112839794 [GRCh38]
Chr5:112175491 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3425A>C (p.Asn1142Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535732]|Hereditary cancer-predisposing syndrome [RCV000561662]|not provided [RCV001775817] Chr5:112839019 [GRCh38]
Chr5:112174716 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7867A>G (p.Thr2623Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766599]|Hereditary cancer-predisposing syndrome [RCV000775753]|not specified [RCV003493584] Chr5:112843461 [GRCh38]
Chr5:112179158 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8523A>G (p.Thr2841=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766642]|Hereditary cancer-predisposing syndrome [RCV001017942] Chr5:112844117 [GRCh38]
Chr5:112179814 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3186_3187del (p.Gln1062_Ser1063insTer) deletion Familial adenomatous polyposis 1 [RCV002526461]|Familial adenomatous polyposis 1 [RCV003651890]|Hereditary cancer-predisposing syndrome [RCV002323747] Chr5:112838779..112838780 [GRCh38]
Chr5:112174476..112174477 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4540C>A (p.Pro1514Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766556]|Hereditary cancer-predisposing syndrome [RCV001022674] Chr5:112840134 [GRCh38]
Chr5:112175831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3959T>A (p.Val1320Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000474367]|Familial adenomatous polyposis 1 [RCV003316573]|Familial adenomatous polyposis 1 [RCV003743728]|Hereditary cancer-predisposing syndrome [RCV000583236]|not provided [RCV001775819] Chr5:112839553 [GRCh38]
Chr5:112175250 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6460C>G (p.Gln2154Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766573] Chr5:112842054 [GRCh38]
Chr5:112177751 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6460C>A (p.Gln2154Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000462346]|Familial adenomatous polyposis 1 [RCV003651849]|Hereditary cancer-predisposing syndrome [RCV002365658] Chr5:112842054 [GRCh38]
Chr5:112177751 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.139G>A (p.Val47Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523382]|Familial adenomatous polyposis 1 [RCV003651867]|Hereditary cancer-predisposing syndrome [RCV000775730]|not provided [RCV002225619] Chr5:112766329 [GRCh38]
Chr5:112102026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7338A>C (p.Glu2446Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230589]|Hereditary cancer-predisposing syndrome [RCV002383830]|not provided [RCV003441884] Chr5:112842932 [GRCh38]
Chr5:112178629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.233_236del (p.Asp78fs) deletion APC-related condition [RCV003962330]|Familial adenomatous polyposis 1 [RCV002525748]|Familial adenomatous polyposis 1 [RCV003743729]|Familial multiple polyposis syndrome [RCV001778973]|Hereditary cancer-predisposing syndrome [RCV000492026]|not provided [RCV000481173] Chr5:112767198..112767201 [GRCh38]
Chr5:112102895..112102898 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5234dup (p.Ile1746fs) duplication Familial adenomatous polyposis 1 [RCV003335371]|not provided [RCV000481359] Chr5:112840823..112840824 [GRCh38]
Chr5:112176520..112176521 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8311A>G (p.Ser2771Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651919]|Hereditary cancer-predisposing syndrome [RCV000775355]|not provided [RCV000479584] Chr5:112843905 [GRCh38]
Chr5:112179602 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+20del deletion Familial adenomatous polyposis 1 [RCV003535751]|Hereditary cancer-predisposing syndrome [RCV001184709]|not specified [RCV000483614] Chr5:112822006 [GRCh38]
Chr5:112157703 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5486A>G (p.Asn1829Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766666]|Hereditary cancer-predisposing syndrome [RCV000491516]|not provided [RCV000483629]|not specified [RCV001731707] Chr5:112841080 [GRCh38]
Chr5:112176777 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7634G>A (p.Gly2545Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651932]|Hereditary cancer-predisposing syndrome [RCV002395169]|not provided [RCV000483839] Chr5:112843228 [GRCh38]
Chr5:112178925 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7276G>A (p.Gly2426Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766592]|Hereditary cancer-predisposing syndrome [RCV001026221]|not provided [RCV003441885] Chr5:112842870 [GRCh38]
Chr5:112178567 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5382C>A (p.Asp1794Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651893] Chr5:112840976 [GRCh38]
Chr5:112176673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766558]|Hereditary cancer [RCV003492060]|Hereditary cancer-predisposing syndrome [RCV000566944]|not provided [RCV001800683]|not specified [RCV003401490] Chr5:112840902 [GRCh38]
Chr5:112176599 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4435G>A (p.Val1479Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651844]|Hereditary cancer-predisposing syndrome [RCV003298501] Chr5:112840029 [GRCh38]
Chr5:112175726 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3241_3242del (p.Ser1081fs) microsatellite Familial adenomatous polyposis 1 [RCV002525610]|Hereditary cancer-predisposing syndrome [RCV002323746] Chr5:112838832..112838833 [GRCh38]
Chr5:112174529..112174530 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7988A>G (p.Asp2663Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230144]|Hereditary cancer-predisposing syndrome [RCV000575522] Chr5:112843582 [GRCh38]
Chr5:112179279 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5891C>T (p.Ser1964Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000466968]|Hereditary cancer-predisposing syndrome [RCV000775744] Chr5:112841485 [GRCh38]
Chr5:112177182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5533C>T (p.His1845Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526455]|Hereditary cancer-predisposing syndrome [RCV001024240]|not provided [RCV001283865] Chr5:112841127 [GRCh38]
Chr5:112176824 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4783G>T (p.Ala1595Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230597]|Hereditary cancer-predisposing syndrome [RCV000775710] Chr5:112840377 [GRCh38]
Chr5:112176074 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.609A>G (p.Gln203=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651901]|Hereditary cancer-predisposing syndrome [RCV000580813]|not provided [RCV000470655] Chr5:112780867 [GRCh38]
Chr5:112116564 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2584A>G (p.Asn862Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651866]|Hereditary cancer-predisposing syndrome [RCV000572675] Chr5:112838178 [GRCh38]
Chr5:112173875 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.14C>A (p.Ser5Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337277]|Hereditary cancer-predisposing syndrome [RCV001011888] Chr5:112754904 [GRCh38]
Chr5:112090601 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2635C>T (p.Gln879Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526446]|Familial adenomatous polyposis 1 [RCV003335339]|Hereditary cancer-predisposing syndrome [RCV002429543] Chr5:112838229 [GRCh38]
Chr5:112173926 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6895C>T (p.Pro2299Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766557] Chr5:112842489 [GRCh38]
Chr5:112178186 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2612G>A (p.Gly871Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766571] Chr5:112838206 [GRCh38]
Chr5:112173903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.951A>T (p.Ser317=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231062] Chr5:112818983 [GRCh38]
Chr5:112154680 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8189C>T (p.Ala2730Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000468466]|Hereditary cancer-predisposing syndrome [RCV002429544] Chr5:112843783 [GRCh38]
Chr5:112179480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3295_3296del (p.Val1099fs) microsatellite Familial adenomatous polyposis 1 [RCV003335360]|not provided [RCV000481707] Chr5:112838886..112838887 [GRCh38]
Chr5:112174583..112174584 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.350C>A (p.Ser117Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525784]|Familial adenomatous polyposis 1 [RCV003535748]|Familial multiple polyposis syndrome [RCV001824795]|Hereditary cancer-predisposing syndrome [RCV000561431]|not provided [RCV000482015] Chr5:112767318 [GRCh38]
Chr5:112103015 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5684C>G (p.Thr1895Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651917]|Hereditary cancer-predisposing syndrome [RCV001176849]|not provided [RCV000479802] Chr5:112841278 [GRCh38]
Chr5:112176975 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7205A>G (p.Asn2402Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743735]|Hereditary cancer-predisposing syndrome [RCV000570254]|not provided [RCV000679084] Chr5:112842799 [GRCh38]
Chr5:112178496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4016G>A (p.Gly1339Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743745]|Hereditary cancer-predisposing syndrome [RCV001021666]|not provided [RCV000479922]|not specified [RCV002469172] Chr5:112839610 [GRCh38]
Chr5:112175307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2843C>G (p.Ser948Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766669]|Hereditary cancer-predisposing syndrome [RCV000566104]|not provided [RCV000483904] Chr5:112838437 [GRCh38]
Chr5:112174134 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.221A>C (p.Glu74Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525819]|Hereditary cancer-predisposing syndrome [RCV000776474]|not provided [RCV000484103] Chr5:112767189 [GRCh38]
Chr5:112102886 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1096G>A (p.Asp366Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651841]|Hereditary cancer-predisposing syndrome [RCV001017272]|not provided [RCV002469156] Chr5:112819128 [GRCh38]
Chr5:112154825 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1763T>C (p.Val588Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525616] Chr5:112834970 [GRCh38]
Chr5:112170667 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7704A>C (p.Gly2568=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231070] Chr5:112843298 [GRCh38]
Chr5:112178995 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.715G>T (p.Ala239Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230530]|Hereditary cancer-predisposing syndrome [RCV000565722] Chr5:112792515 [GRCh38]
Chr5:112128212 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7043C>T (p.Thr2348Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535735]|Hereditary cancer-predisposing syndrome [RCV002365661]|not provided [RCV002051856] Chr5:112842637 [GRCh38]
Chr5:112178334 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112162805)_(112181936_?)dup duplication Familial adenomatous polyposis 1 [RCV000463404] Chr5:112827108..112846239 [GRCh38]
Chr5:112162805..112181936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.330C>T (p.Cys110=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651912]|Hereditary cancer-predisposing syndrome [RCV000568079] Chr5:112767298 [GRCh38]
Chr5:112102995 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4404_4418delinsC (p.Lys1468fs) indel Familial adenomatous polyposis 1 [RCV003153640] Chr5:112839998..112840012 [GRCh38]
Chr5:112175695..112175709 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3473_3474del (p.Arg1158fs) microsatellite Familial adenomatous polyposis 1 [RCV002230178]|Familial adenomatous polyposis 1 [RCV003766596]|Hereditary cancer-predisposing syndrome [RCV000574684] Chr5:112839062..112839063 [GRCh38]
Chr5:112174759..112174760 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3892T>A (p.Ser1298Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766579]|Hereditary cancer-predisposing syndrome [RCV002356701] Chr5:112839486 [GRCh38]
Chr5:112175183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4332A>T (p.Gln1444His) single nucleotide variant Desmoid disease, hereditary [RCV002489079]|Familial adenomatous polyposis 1 [RCV002526464]|Familial adenomatous polyposis 1 [RCV003535737]|Hereditary cancer-predisposing syndrome [RCV000571742]|not provided [RCV001550235] Chr5:112839926 [GRCh38]
Chr5:112175623 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7619C>T (p.Pro2540Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230471]|Hereditary cancer-predisposing syndrome [RCV002258916] Chr5:112843213 [GRCh38]
Chr5:112178910 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-4_423-2del deletion Familial adenomatous polyposis 1 [RCV003651887]|Hereditary cancer-predisposing syndrome [RCV003298503]|not provided [RCV000185617] Chr5:112775624..112775626 [GRCh38]
Chr5:112111322..112111324 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7535G>C (p.Ser2512Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230538]|Hereditary cancer-predisposing syndrome [RCV001026533] Chr5:112843129 [GRCh38]
Chr5:112178826 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2240C>G (p.Ser747Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230472]|Familial adenomatous polyposis 1 [RCV003337276]|Hereditary cancer-predisposing syndrome [RCV002429542] Chr5:112837834 [GRCh38]
Chr5:112173531 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3154C>G (p.Pro1052Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766553] Chr5:112838748 [GRCh38]
Chr5:112174445 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8071A>G (p.Asn2691Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000474824]|Familial adenomatous polyposis 1 [RCV003316571]|Hereditary cancer-predisposing syndrome [RCV000569935]|not provided [RCV000588192] Chr5:112843665 [GRCh38]
Chr5:112179362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1286C>T (p.Pro429Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523371]|Hereditary cancer-predisposing syndrome [RCV000561404]|not provided [RCV000519043]|not specified [RCV001192834] Chr5:112819318 [GRCh38]
Chr5:112155015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1886del (p.Thr628_Leu629insTer) deletion Familial adenomatous polyposis 1 [RCV003337284]|Hereditary cancer-predisposing syndrome [RCV003278830]|not provided [RCV000482355] Chr5:112835091 [GRCh38]
Chr5:112170788 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5692A>C (p.Thr1898Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766653]|Hereditary cancer-predisposing syndrome [RCV000775861]|not provided [RCV000480177] Chr5:112841286 [GRCh38]
Chr5:112176983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6952A>G (p.Ser2318Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000686468]|Familial adenomatous polyposis 1 [RCV003651920]|Hereditary cancer-predisposing syndrome [RCV000563979]|not provided [RCV000588074] Chr5:112842546 [GRCh38]
Chr5:112178243 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.262C>T (p.Arg88Trp) single nucleotide variant Carcinoma of colon [RCV000484135]|Familial adenomatous polyposis 1 [RCV000646444]|Familial adenomatous polyposis 1 [RCV003651926]|Hereditary cancer-predisposing syndrome [RCV000574492]|not provided [RCV000766533]|not specified [RCV002282167] Chr5:112767230 [GRCh38]
Chr5:112102927 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6223G>T (p.Asp2075Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651929]|Hereditary cancer-predisposing syndrome [RCV000775338]|not provided [RCV000484199] Chr5:112841817 [GRCh38]
Chr5:112177514 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3227C>G (p.Pro1076Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743744]|Hereditary cancer-predisposing syndrome [RCV000583558]|not provided [RCV000484279] Chr5:112838821 [GRCh38]
Chr5:112174518 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6676C>G (p.Arg2226Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743741]|Hereditary cancer-predisposing syndrome [RCV000562431]|not provided [RCV000484339] Chr5:112842270 [GRCh38]
Chr5:112177967 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6220G>A (p.Glu2074Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766675]|Hereditary cancer-predisposing syndrome [RCV000582220]|not provided [RCV000484377] Chr5:112841814 [GRCh38]
Chr5:112177511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2420A>G (p.Asp807Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766591] Chr5:112838014 [GRCh38]
Chr5:112173711 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3282A>T (p.Gly1094=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526447]|Hereditary cancer-predisposing syndrome [RCV001179534] Chr5:112838876 [GRCh38]
Chr5:112174573 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7891T>G (p.Ser2631Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766603]|Hereditary cancer-predisposing syndrome [RCV001524343]|not provided [RCV001755701] Chr5:112843485 [GRCh38]
Chr5:112179182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6771C>T (p.Ala2257=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766647]|Hereditary cancer-predisposing syndrome [RCV002367615] Chr5:112842365 [GRCh38]
Chr5:112178062 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5026_5028del (p.Arg1676del) deletion Colon cancer [RCV000677746]|Familial adenomatous polyposis 1 [RCV003766568]|Hereditary cancer-predisposing syndrome [RCV000582605]|not provided [RCV003139665]|not specified [RCV000780835] Chr5:112840620..112840622 [GRCh38]
Chr5:112176317..112176319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5761G>A (p.Gly1921Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523386]|Familial adenomatous polyposis 1 [RCV003651873]|Hereditary cancer-predisposing syndrome [RCV001024497] Chr5:112841355 [GRCh38]
Chr5:112177052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1168A>G (p.Ile390Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526458]|Hereditary cancer-predisposing syndrome [RCV000573761]|not provided [RCV003477987] Chr5:112819200 [GRCh38]
Chr5:112154897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6635A>G (p.Gln2212Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523355]|Hereditary cancer-predisposing syndrome [RCV003584614] Chr5:112842229 [GRCh38]
Chr5:112177926 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3445GAA[2] (p.Glu1151del) microsatellite Familial adenomatous polyposis 1 [RCV003651843]|Hereditary cancer-predisposing syndrome [RCV000574407]|not provided [RCV001561070]|not specified [RCV002230466] Chr5:112839039..112839041 [GRCh38]
Chr5:112174736..112174738 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6037C>T (p.His2013Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523356]|Hereditary cancer-predisposing syndrome [RCV000579614] Chr5:112841631 [GRCh38]
Chr5:112177328 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2371C>G (p.His791Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523378] Chr5:112837965 [GRCh38]
Chr5:112173662 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4521T>C (p.Ser1507=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230690] Chr5:112840115 [GRCh38]
Chr5:112175812 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6614C>G (p.Ser2205Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651876] Chr5:112842208 [GRCh38]
Chr5:112177905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7377T>C (p.Ser2459=) single nucleotide variant APC-related condition [RCV003932765]|Familial adenomatous polyposis 1 [RCV003651914]|Hereditary cancer-predisposing syndrome [RCV000580788]|Malignant tumor of breast [RCV001357623]|not specified [RCV000613898] Chr5:112842971 [GRCh38]
Chr5:112178668 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3319G>T (p.Ala1107Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000467558]|Familial adenomatous polyposis 1 [RCV002230486]|Hereditary cancer-predisposing syndrome [RCV002451131] Chr5:112838913 [GRCh38]
Chr5:112174610 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.343A>G (p.Met115Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523360]|Familial adenomatous polyposis 1 [RCV003651845]|Hereditary cancer-predisposing syndrome [RCV000566474]|not provided [RCV000985295]|not specified [RCV003987542] Chr5:112767311 [GRCh38]
Chr5:112103008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4690T>C (p.Leu1564=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230691]|Hereditary cancer-predisposing syndrome [RCV002341115] Chr5:112840284 [GRCh38]
Chr5:112175981 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4595A>G (p.Asp1532Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766555]|Hereditary cancer-predisposing syndrome [RCV000575920] Chr5:112840189 [GRCh38]
Chr5:112175886 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.341del (p.Pro114fs) deletion Familial adenomatous polyposis 1 [RCV003337281]|Hereditary cancer-predisposing syndrome [RCV002455907]|not provided [RCV000482971] Chr5:112767308 [GRCh38]
Chr5:112103005 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2209T>C (p.Tyr737His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526522]|Hereditary cancer-predisposing syndrome [RCV000580908]|not provided [RCV000480278] Chr5:112837803 [GRCh38]
Chr5:112173500 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5593C>G (p.Leu1865Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535755]|not provided [RCV000480341] Chr5:112841187 [GRCh38]
Chr5:112176884 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6485A>G (p.Asn2162Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525877]|Familial adenomatous polyposis 1 [RCV003535758]|Hereditary cancer-predisposing syndrome [RCV001025318]|not provided [RCV000480456] Chr5:112842079 [GRCh38]
Chr5:112177776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5300G>A (p.Gly1767Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743749]|Hereditary cancer-predisposing syndrome [RCV001805101]|not provided [RCV000484395] Chr5:112840894 [GRCh38]
Chr5:112176591 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4250T>C (p.Ile1417Thr) single nucleotide variant not provided [RCV000484448] Chr5:112839844 [GRCh38]
Chr5:112175541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8234C>T (p.Pro2745Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003153659]|Familial adenomatous polyposis 1 [RCV003743734]|Hereditary cancer-predisposing syndrome [RCV000573589]|not provided [RCV000484513] Chr5:112843828 [GRCh38]
Chr5:112179525 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1142C>T (p.Ala381Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651931]|Hereditary cancer-predisposing syndrome [RCV003168964]|not provided [RCV000484540] Chr5:112819174 [GRCh38]
Chr5:112154871 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5426A>G (p.Lys1809Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651861]|Hereditary cancer-predisposing syndrome [RCV001524344] Chr5:112841020 [GRCh38]
Chr5:112176717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3225T>C (p.Tyr1075=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987568]|Familial adenomatous polyposis 1 [RCV003651916]|Hereditary cancer-predisposing syndrome [RCV000490940] Chr5:112838819 [GRCh38]
Chr5:112174516 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4857A>G (p.Pro1619=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766641]|Hereditary cancer-predisposing syndrome [RCV000564211]|not specified [RCV002268107] Chr5:112840451 [GRCh38]
Chr5:112176148 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6944A>G (p.Gln2315Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230474]|Hereditary cancer-predisposing syndrome [RCV002365657]|not provided [RCV003237873]|not specified [RCV001192980] Chr5:112842538 [GRCh38]
Chr5:112178235 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5718A>G (p.Ser1906=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230872]|Hereditary cancer-predisposing syndrome [RCV003343851] Chr5:112841312 [GRCh38]
Chr5:112177009 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7652A>T (p.His2551Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230537]|Hereditary cancer-predisposing syndrome [RCV001190633]|not provided [RCV000679085] Chr5:112843246 [GRCh38]
Chr5:112178943 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5337A>G (p.Ile1779Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766566]|Hereditary cancer-predisposing syndrome [RCV000566066]|not provided [RCV001836824] Chr5:112840931 [GRCh38]
Chr5:112176628 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4405C>G (p.Gln1469Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766565]|Hereditary cancer-predisposing syndrome [RCV000580689] Chr5:112839999 [GRCh38]
Chr5:112175696 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.715G>A (p.Ala239Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651882]|not provided [RCV002508216]|not specified [RCV002465662] Chr5:112792515 [GRCh38]
Chr5:112128212 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.20A>G (p.Asp7Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230515] Chr5:112754910 [GRCh38]
Chr5:112090607 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8399C>T (p.Ala2800Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523405]|Hereditary cancer-predisposing syndrome [RCV000491676]|not provided [RCV001531608] Chr5:112843993 [GRCh38]
Chr5:112179690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5476A>G (p.Lys1826Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535733] Chr5:112841070 [GRCh38]
Chr5:112176767 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.396A>C (p.Gly132=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230880] Chr5:112767364 [GRCh38]
Chr5:112103061 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2958T>C (p.Tyr986=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157046]|APC-related condition [RCV003925387]|Familial adenomatous polyposis 1 [RCV003535738]|Hereditary cancer-predisposing syndrome [RCV000567624]|not provided [RCV000585539] Chr5:112838552 [GRCh38]
Chr5:112174249 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8430T>A (p.Asn2810Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000466263]|Hereditary cancer-predisposing syndrome [RCV001179768] Chr5:112844024 [GRCh38]
Chr5:112179721 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7427G>A (p.Arg2476Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383917]|not provided [RCV000480569] Chr5:112843021 [GRCh38]
Chr5:112178718 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1318G>A (p.Ala440Thr) single nucleotide variant APC-related condition [RCV003942584]|Familial adenomatous polyposis 1 [RCV003470521]|Hereditary cancer-predisposing syndrome [RCV001010961]|not provided [RCV000590604] Chr5:112821901 [GRCh38]
Chr5:112157598 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3454C>G (p.Gln1152Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455930]|not provided [RCV000480666] Chr5:112839048 [GRCh38]
Chr5:112174745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3128C>T (p.Pro1043Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535745]|Hereditary cancer-predisposing syndrome [RCV001018744]|not provided [RCV000484691]|not specified [RCV003401516] Chr5:112838722 [GRCh38]
Chr5:112174419 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6550G>A (p.Glu2184Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526552]|Familial adenomatous polyposis 1 [RCV003743738]|Hereditary cancer-predisposing syndrome [RCV000561591]|not provided [RCV000484715] Chr5:112842144 [GRCh38]
Chr5:112177841 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6038A>C (p.His2013Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003168956]|not provided [RCV000484755] Chr5:112841632 [GRCh38]
Chr5:112177329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1396A>G (p.Met466Val) single nucleotide variant Colorectal cancer [RCV000677766]|Familial adenomatous polyposis 1 [RCV002526511]|Familial adenomatous polyposis 1 [RCV003535742]|Hereditary cancer-predisposing syndrome [RCV000565633]|not provided [RCV000484801] Chr5:112821979 [GRCh38]
Chr5:112157676 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1392T>A (p.His464Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525936]|Hereditary cancer-predisposing syndrome [RCV000775791]|not provided [RCV000484950] Chr5:112821975 [GRCh38]
Chr5:112157672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8003A>G (p.Asn2668Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651857]|Hereditary cancer-predisposing syndrome [RCV001027052]|not provided [RCV003228935] Chr5:112843597 [GRCh38]
Chr5:112179294 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+3A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003148749]|Hereditary cancer-predisposing syndrome [RCV000491321]|not specified [RCV001001783] Chr5:112828009 [GRCh38]
Chr5:112163706 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.776G>A (p.Arg259Gln) single nucleotide variant Desmoid disease, hereditary [RCV002481465]|Familial adenomatous polyposis 1 [RCV003651839]|Hereditary cancer-predisposing syndrome [RCV000566711]|not provided [RCV000587961]|not specified [RCV003320651] Chr5:112801325 [GRCh38]
Chr5:112137022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8030G>A (p.Gly2677Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470489]|Hereditary cancer-predisposing syndrome [RCV000775353]|not provided [RCV003441886] Chr5:112843624 [GRCh38]
Chr5:112179321 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7565C>G (p.Pro2522Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523388]|Hereditary cancer-predisposing syndrome [RCV000573204] Chr5:112843159 [GRCh38]
Chr5:112178856 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3827C>A (p.Ser1276Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651862]|Hereditary cancer-predisposing syndrome [RCV002365660] Chr5:112839421 [GRCh38]
Chr5:112175118 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.211C>A (p.Arg71Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523358]|Hereditary cancer-predisposing syndrome [RCV000569830]|not provided [RCV000759423]|not specified [RCV000779735] Chr5:112766401 [GRCh38]
Chr5:112102098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1246dup (p.Tyr416fs) duplication Familial adenomatous polyposis 1 [RCV002230607]|Familial adenomatous polyposis 1 [RCV003335342]|Familial multiple polyposis syndrome [RCV000659273]|not provided [RCV001008195] Chr5:112819276..112819277 [GRCh38]
Chr5:112154973..112154974 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6674C>G (p.Ser2225Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523374]|Hereditary cancer-predisposing syndrome [RCV000579487]|not provided [RCV003139666]|not specified [RCV000780832] Chr5:112842268 [GRCh38]
Chr5:112177965 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3155C>T (p.Pro1052Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766601] Chr5:112838749 [GRCh38]
Chr5:112174446 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8251A>G (p.Thr2751Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651879]|Hereditary cancer-predisposing syndrome [RCV001027324]|not provided [RCV000587487] Chr5:112843845 [GRCh38]
Chr5:112179542 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3557A>G (p.Asp1186Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230481]|Hereditary cancer-predisposing syndrome [RCV001525371] Chr5:112839151 [GRCh38]
Chr5:112174848 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.924G>A (p.Leu308=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766638]|Hereditary cancer-predisposing syndrome [RCV003298537] Chr5:112815584 [GRCh38]
Chr5:112151281 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4837C>T (p.Pro1613Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651877]|Hereditary cancer-predisposing syndrome [RCV000574251] Chr5:112840431 [GRCh38]
Chr5:112176128 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.474T>C (p.Tyr158=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231069] Chr5:112775680 [GRCh38]
Chr5:112111377 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4779G>A (p.Lys1593=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766637]|Hereditary cancer-predisposing syndrome [RCV000561539]|not specified [RCV000605093] Chr5:112840373 [GRCh38]
Chr5:112176070 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3696T>C (p.His1232=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766650]|Hereditary cancer-predisposing syndrome [RCV000579522] Chr5:112839290 [GRCh38]
Chr5:112174987 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-9T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002230687]|Hereditary cancer-predisposing syndrome [RCV000775769]|not specified [RCV001844170] Chr5:112792437 [GRCh38]
Chr5:112128134 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8141G>A (p.Arg2714His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000457741]|Familial adenomatous polyposis 1 [RCV003743726]|Hereditary cancer-predisposing syndrome [RCV000571502]|not provided [RCV000759449]|not specified [RCV001706640] Chr5:112843735 [GRCh38]
Chr5:112179432 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5459C>T (p.Ser1820Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230514]|Familial adenomatous polyposis 1 [RCV003463957]|Hereditary cancer-predisposing syndrome [RCV000580964]|not provided [RCV000483916] Chr5:112841053 [GRCh38]
Chr5:112176750 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3437G>A (p.Arg1146His) single nucleotide variant APC-Associated Polyposis Disorders [RCV003483629]|APC-related condition [RCV003925326]|Familial adenomatous polyposis 1 [RCV000459542]|Familial colorectal cancer [RCV000784890]|Hereditary cancer-predisposing syndrome [RCV000580685]|not provided [RCV000481448] Chr5:112839031 [GRCh38]
Chr5:112174728 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.895T>A (p.Ser299Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000460219]|Familial adenomatous polyposis 1 [RCV003651878]|Hereditary cancer-predisposing syndrome [RCV000570515]|not provided [RCV000483019] Chr5:112815555 [GRCh38]
Chr5:112151252 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5083A>G (p.Arg1695Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766576]|Hereditary cancer-predisposing syndrome [RCV000572779]|not provided [RCV000483622] Chr5:112840677 [GRCh38]
Chr5:112176374 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6918T>A (p.Asp2306Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535736]|Hereditary cancer-predisposing syndrome [RCV000490862]|not provided [RCV000766560]|not specified [RCV000485120] Chr5:112842512 [GRCh38]
Chr5:112178209 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6403A>G (p.Ile2135Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743730]|Hereditary cancer-predisposing syndrome [RCV000566531]|not provided [RCV000480863]|not specified [RCV001700391] Chr5:112841997 [GRCh38]
Chr5:112177694 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1626+3A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491874]|not provided [RCV000481036] Chr5:112828009 [GRCh38]
Chr5:112163706 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5114C>T (p.Thr1705Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743742]|Hereditary cancer-predisposing syndrome [RCV002341141]|not provided [RCV000485281] Chr5:112840708 [GRCh38]
Chr5:112176405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1317A>G (p.Pro439=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766644]|Hereditary cancer-predisposing syndrome [RCV000561131] Chr5:112821900 [GRCh38]
Chr5:112157597 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6976C>T (p.Arg2326Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523400]|Familial adenomatous polyposis 1 [RCV003335341]|Hereditary cancer-predisposing syndrome [RCV001025870]|not provided [RCV000985316] Chr5:112842570 [GRCh38]
Chr5:112178267 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8127C>G (p.Gly2709=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230867]|Hereditary cancer-predisposing syndrome [RCV001027200] Chr5:112843721 [GRCh38]
Chr5:112179418 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2901C>A (p.Val967=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766639]|Hereditary cancer-predisposing syndrome [RCV000568635]|not specified [RCV000605741] Chr5:112838495 [GRCh38]
Chr5:112174192 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.370G>A (p.Val124Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651870]|not specified [RCV002248689] Chr5:112767338 [GRCh38]
Chr5:112103035 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.2414G>A (p.Arg805Gln) single nucleotide variant APC-related condition [RCV003899932]|Familial adenomatous polyposis 1 [RCV000468198]|Familial adenomatous polyposis 1 [RCV003651896]|Hereditary cancer-predisposing syndrome [RCV000491212]|Neoplasm of the liver [RCV000677778]|not provided [RCV001549488]|not specified [RCV003479129] Chr5:112838008 [GRCh38]
Chr5:112173705 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2614A>C (p.Thr872Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766570] Chr5:112838208 [GRCh38]
Chr5:112173905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1729T>G (p.Leu577Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651850]|Hereditary cancer-predisposing syndrome [RCV003584615] Chr5:112828958 [GRCh38]
Chr5:112164655 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4399C>T (p.Pro1467Ser) single nucleotide variant Desmoid disease, hereditary [RCV002481466]|Familial adenomatous polyposis 1 [RCV000471930]|Familial adenomatous polyposis 1 [RCV003316572]|Hereditary cancer-predisposing syndrome [RCV000565410]|not provided [RCV002260641] Chr5:112839993 [GRCh38]
Chr5:112175690 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.565T>C (p.Leu189=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651915]|Hereditary cancer-predisposing syndrome [RCV000562278]|not specified [RCV000588432] Chr5:112780823 [GRCh38]
Chr5:112116520 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8353A>C (p.Asn2785His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523375]|Hereditary cancer-predisposing syndrome [RCV000775356] Chr5:112843947 [GRCh38]
Chr5:112179644 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5072C>T (p.Pro1691Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651884]|Hereditary cancer-predisposing syndrome [RCV001186460]|not provided [RCV000480116] Chr5:112840666 [GRCh38]
Chr5:112176363 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6019T>C (p.Tyr2007His) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157264]|APC-related condition [RCV003899931]|Familial adenomatous polyposis 1 [RCV002526456]|Hereditary cancer-predisposing syndrome [RCV000561606]|not provided [RCV000590075]|not specified [RCV000855566] Chr5:112841613 [GRCh38]
Chr5:112177310 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3926A>G (p.Glu1309Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230581]|Hereditary cancer-predisposing syndrome [RCV000581098]|not provided [RCV000479602] Chr5:112839520 [GRCh38]
Chr5:112175217 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5147A>G (p.Asn1716Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000465464]|Familial adenomatous polyposis 1 [RCV002230484]|Hereditary cancer-predisposing syndrome [RCV000572058]|not provided [RCV000481145] Chr5:112840741 [GRCh38]
Chr5:112176438 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3607G>C (p.Gly1203Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651872]|Hereditary cancer-predisposing syndrome [RCV000568797]|not provided [RCV000479172]|not specified [RCV001264493] Chr5:112839201 [GRCh38]
Chr5:112174898 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6452C>T (p.Thr2151Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470485]|Hereditary cancer-predisposing syndrome [RCV001025285]|not provided [RCV001800685]|not specified [RCV000485592] Chr5:112842046 [GRCh38]
Chr5:112177743 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5628G>T (p.Arg1876Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535756]|Hereditary cancer-predisposing syndrome [RCV000562178]|not provided [RCV000481170] Chr5:112841222 [GRCh38]
Chr5:112176919 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1405C>T (p.Leu469=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766682]|Hereditary cancer-predisposing syndrome [RCV000562539]|not provided [RCV000587476]|not specified [RCV000855609] Chr5:112821988 [GRCh38]
Chr5:112157685 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5071C>A (p.Pro1691Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525814]|Familial adenomatous polyposis 1 [RCV003743737]|Hereditary cancer-predisposing syndrome [RCV000564960]|not provided [RCV000481272] Chr5:112840665 [GRCh38]
Chr5:112176362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5971G>C (p.Glu1991Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651928]|not provided [RCV000481273] Chr5:112841565 [GRCh38]
Chr5:112177262 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8447G>A (p.Arg2816Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470546]|Hereditary cancer-predisposing syndrome [RCV000571556]|not provided [RCV000485330] Chr5:112844041 [GRCh38]
Chr5:112179738 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7214A>C (p.Asn2405Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651930]|Hereditary cancer-predisposing syndrome [RCV002376883]|not provided [RCV000485432] Chr5:112842808 [GRCh38]
Chr5:112178505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3462AGA[4] (p.Glu1157dup) microsatellite Familial adenomatous polyposis 1 [RCV002526567]|Familial adenomatous polyposis 1 [RCV003535752]|Hereditary cancer-predisposing syndrome [RCV000581588]|not provided [RCV000485585] Chr5:112839053..112839054 [GRCh38]
Chr5:112174750..112174751 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1960C>G (p.Gln654Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766587]|Hereditary cancer-predisposing syndrome [RCV001013856] Chr5:112837554 [GRCh38]
Chr5:112173251 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1264G>A (p.Glu422Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526444]|Familial adenomatous polyposis 1 [RCV003535731]|Hereditary cancer-predisposing syndrome [RCV001184708] Chr5:112819296 [GRCh38]
Chr5:112154993 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5459C>G (p.Ser1820Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470483]|Hereditary cancer-predisposing syndrome [RCV002348334] Chr5:112841053 [GRCh38]
Chr5:112176750 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4127A>G (p.Tyr1376Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003153639]|Hereditary cancer-predisposing syndrome [RCV000570152] Chr5:112839721 [GRCh38]
Chr5:112175418 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5529T>A (p.Pro1843=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535740]|Hereditary cancer-predisposing syndrome [RCV000563157] Chr5:112841123 [GRCh38]
Chr5:112176820 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+5G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003651858]|Hereditary cancer-predisposing syndrome [RCV000776253] Chr5:112821996 [GRCh38]
Chr5:112157693 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1928C>T (p.Ser643Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651856]|Hereditary cancer-predisposing syndrome [RCV001013737] Chr5:112835135 [GRCh38]
Chr5:112170832 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4212C>T (p.Ser1404=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766648]|Hereditary cancer-predisposing syndrome [RCV000492038]|not provided [RCV000732075]|not specified [RCV000615951] Chr5:112839806 [GRCh38]
Chr5:112175503 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2692C>T (p.His898Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230452]|Hereditary cancer-predisposing syndrome [RCV000583399]|not specified [RCV002248688] Chr5:112838286 [GRCh38]
Chr5:112173983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2585A>G (p.Asn862Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523381]|Hereditary cancer-predisposing syndrome [RCV001016016] Chr5:112838179 [GRCh38]
Chr5:112173876 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1061C>T (p.Pro354Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766588] Chr5:112819093 [GRCh38]
Chr5:112154790 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7696A>C (p.Arg2566=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651910]|Hereditary cancer-predisposing syndrome [RCV000775747]|not provided [RCV003424039]|not specified [RCV000586267] Chr5:112843290 [GRCh38]
Chr5:112178987 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4740T>C (p.Ile1580=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766646]|Hereditary cancer-predisposing syndrome [RCV002341116] Chr5:112840334 [GRCh38]
Chr5:112176031 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2797A>G (p.Asn933Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230469]|Hereditary cancer-predisposing syndrome [RCV001016363] Chr5:112838391 [GRCh38]
Chr5:112174088 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5957C>T (p.Pro1986Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000475886]|Familial adenomatous polyposis 1 [RCV003535730]|Hereditary cancer-predisposing syndrome [RCV000573470]|not provided [RCV003126748]|not specified [RCV003479128] Chr5:112841551 [GRCh38]
Chr5:112177248 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1744-11_1744-1del deletion Familial adenomatous polyposis 1 [RCV002230467] Chr5:112834939..112834949 [GRCh38]
Chr5:112170636..112170646 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6473C>A (p.Pro2158His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526445]|Familial adenomatous polyposis 1 [RCV003651851]|Hereditary cancer-predisposing syndrome [RCV000568756]|not provided [RCV000484651] Chr5:112842067 [GRCh38]
Chr5:112177764 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1370C>G (p.Ser457Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337278]|Hereditary cancer-predisposing syndrome [RCV000491762]|not provided [RCV000481642]|not specified [RCV000508095] Chr5:112821953 [GRCh38]
Chr5:112157650 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4082C>T (p.Pro1361Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651840]|Hereditary cancer-predisposing syndrome [RCV000564035]|not provided [RCV000483101]|not specified [RCV002282159] Chr5:112839676 [GRCh38]
Chr5:112175373 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3289G>A (p.Glu1097Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651865]|Hereditary cancer-predisposing syndrome [RCV000569515]|not provided [RCV000481132] Chr5:112838883 [GRCh38]
Chr5:112174580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000473845]|Familial adenomatous polyposis 1 [RCV003743725]|Hereditary cancer-predisposing syndrome [RCV000570317]|not provided [RCV000481597]|not specified [RCV000779718] Chr5:112839123 [GRCh38]
Chr5:112174820 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4088A>T (p.Lys1363Ile) single nucleotide variant APC-related condition [RCV003409636]|Familial adenomatous polyposis 1 [RCV000474316]|Familial adenomatous polyposis 1 [RCV003535734]|Hereditary cancer-predisposing syndrome [RCV000771584]|not provided [RCV000485843] Chr5:112839682 [GRCh38]
Chr5:112175379 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3535T>A (p.Tyr1179Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230561]|Familial adenomatous polyposis 1 [RCV003463959]|Hereditary cancer-predisposing syndrome [RCV000562153]|not provided [RCV000486050] Chr5:112839129 [GRCh38]
Chr5:112174826 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.212G>A (p.Arg71His) single nucleotide variant Desmoid disease, hereditary [RCV002506131]|Familial adenomatous polyposis 1 [RCV003766575]|Hereditary cancer-predisposing syndrome [RCV000571928]|not provided [RCV000479660]|not specified [RCV001192982] Chr5:112766402 [GRCh38]
Chr5:112102099 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.791A>G (p.Gln264Arg) single nucleotide variant Desmoid disease, hereditary [RCV000764559]|Familial adenomatous polyposis 1 [RCV002525602]|Familial adenomatous polyposis 1 [RCV003535729]|Hereditary cancer-predisposing syndrome [RCV000575683]|not provided [RCV000483155] Chr5:112801340 [GRCh38]
Chr5:112137037 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2411A>G (p.Asn804Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523366]|Familial adenomatous polyposis 1 [RCV003651854]|Hereditary cancer-predisposing syndrome [RCV000775137]|not provided [RCV000483927] Chr5:112838005 [GRCh38]
Chr5:112173702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5060G>A (p.Arg1687Gln) single nucleotide variant APC-related condition [RCV003392285]|Familial adenomatous polyposis 1 [RCV003651883]|Hereditary cancer-predisposing syndrome [RCV000580947]|not provided [RCV000482697]|not specified [RCV001293489] Chr5:112840654 [GRCh38]
Chr5:112176351 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.583C>T (p.Gln195Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525822]|Familial adenomatous polyposis 1 [RCV003535750]|Hereditary cancer-predisposing syndrome [RCV002356778]|not provided [RCV000484402] Chr5:112780841 [GRCh38]
Chr5:112116538 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1409-2A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003337282]|Hereditary cancer-predisposing syndrome [RCV001011425]|not provided [RCV000484643] Chr5:112827106 [GRCh38]
Chr5:112162803 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3904del (p.Leu1302fs) deletion Familial adenomatous polyposis 1 [RCV003335353]|not provided [RCV000484665] Chr5:112839496 [GRCh38]
Chr5:112175193 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6218G>A (p.Gly2073Asp) single nucleotide variant Desmoid disease, hereditary [RCV002484003]|Familial adenomatous polyposis 1 [RCV003650630]|Hereditary cancer-predisposing syndrome [RCV001183855] Chr5:112841812 [GRCh38]
Chr5:112177509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3151A>G (p.Arg1051Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744744]|Hereditary cancer-predisposing syndrome [RCV001176581] Chr5:112838745 [GRCh38]
Chr5:112174442 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3305A>G (p.Tyr1102Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230927]|Hereditary cancer-predisposing syndrome [RCV001019825]|not provided [RCV000481373] Chr5:112838899 [GRCh38]
Chr5:112174596 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1073A>G (p.Gln358Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535746]|Hereditary cancer-predisposing syndrome [RCV001525950]|not provided [RCV000481456] Chr5:112819105 [GRCh38]
Chr5:112154802 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8245T>A (p.Ser2749Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526568]|Familial adenomatous polyposis 1 [RCV003535753]|Hereditary cancer-predisposing syndrome [RCV000567563]|not provided [RCV000481602]|not specified [RCV003493596] Chr5:112843839 [GRCh38]
Chr5:112179536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4977_5003dup (p.Asp1659_Asn1667dup) duplication Familial adenomatous polyposis 1 [RCV003535749]|Hereditary cancer-predisposing syndrome [RCV001023352]|not provided [RCV000485607] Chr5:112840567..112840568 [GRCh38]
Chr5:112176264..112176265 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535762]|Hereditary cancer-predisposing syndrome [RCV002350071]|not provided [RCV000485630]|not specified [RCV002248706] Chr5:112841317 [GRCh38]
Chr5:112177014 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.7105_7107del (p.Pro2369del) deletion Familial adenomatous polyposis 1 [RCV000646379]|Familial adenomatous polyposis 1 [RCV003316638]|Hereditary cancer-predisposing syndrome [RCV003168955]|not provided [RCV000485631] Chr5:112842699..112842701 [GRCh38]
Chr5:112178396..112178398 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.853G>C (p.Asp285His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526532]|Hereditary cancer-predisposing syndrome [RCV000571343]|not provided [RCV000485770] Chr5:112815513 [GRCh38]
Chr5:112151210 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6688A>G (p.Met2230Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525887]|Familial adenomatous polyposis 1 [RCV003535759]|Hereditary cancer-predisposing syndrome [RCV000560933]|not provided [RCV000485856]|not specified [RCV000779720] Chr5:112842282 [GRCh38]
Chr5:112177979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.44C>T (p.Ala15Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743732]|Hereditary cancer-predisposing syndrome [RCV003298544]|not provided [RCV000485888] Chr5:112754934 [GRCh38]
Chr5:112090631 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4815G>A (p.Val1605=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230536]|Hereditary cancer-predisposing syndrome [RCV002339181] Chr5:112840409 [GRCh38]
Chr5:112176106 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7380T>G (p.Ala2460=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526502]|Hereditary cancer-predisposing syndrome [RCV002383902] Chr5:112842974 [GRCh38]
Chr5:112178671 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5668T>C (p.Ser1890Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525600]|Hereditary cancer-predisposing syndrome [RCV000579662] Chr5:112841262 [GRCh38]
Chr5:112176959 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5432C>T (p.Ser1811Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000461055]|Familial adenomatous polyposis 1 [RCV003651874]|Hereditary cancer-predisposing syndrome [RCV000775725] Chr5:112841026 [GRCh38]
Chr5:112176723 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8406A>G (p.Pro2802=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231073]|Hereditary cancer-predisposing syndrome [RCV000569369] Chr5:112844000 [GRCh38]
Chr5:112179697 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2910_2911del (p.Ser970fs) deletion Familial adenomatous polyposis 1 [RCV002230157] Chr5:112838503..112838504 [GRCh38]
Chr5:112174200..112174201 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6020A>G (p.Tyr2007Cys) single nucleotide variant APC-related condition [RCV003960038]|Familial adenomatous polyposis 1 [RCV000461257]|Familial adenomatous polyposis 1 [RCV003651881]|Hereditary cancer-predisposing syndrome [RCV000573397]|not provided [RCV002284400]|not specified [RCV002282160] Chr5:112841614 [GRCh38]
Chr5:112177311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2948T>A (p.Ile983Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523391]|Hereditary cancer-predisposing syndrome [RCV000579456] Chr5:112838542 [GRCh38]
Chr5:112174239 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3419C>G (p.Pro1140Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003225727]|Hereditary cancer-predisposing syndrome [RCV000582714] Chr5:112839013 [GRCh38]
Chr5:112174710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2092T>G (p.Leu698Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766562] Chr5:112837686 [GRCh38]
Chr5:112173383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2966A>G (p.Asp989Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526443]|Familial adenomatous polyposis 1 [RCV003651848]|Hereditary cancer-predisposing syndrome [RCV000561099]|not provided [RCV000758725] Chr5:112838560 [GRCh38]
Chr5:112174257 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3698C>T (p.Pro1233Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230564]|Hereditary cancer-predisposing syndrome [RCV001020905] Chr5:112839292 [GRCh38]
Chr5:112174989 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2303A>C (p.His768Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651871] Chr5:112837897 [GRCh38]
Chr5:112173594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7433A>C (p.Gln2478Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766572] Chr5:112843027 [GRCh38]
Chr5:112178724 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5068A>G (p.Ile1690Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000472408]|Hereditary cancer-predisposing syndrome [RCV002339183]|not provided [RCV001574379] Chr5:112840662 [GRCh38]
Chr5:112176359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6131G>A (p.Ser2044Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651838]|Hereditary cancer-predisposing syndrome [RCV000571749]|not provided [RCV000733231] Chr5:112841725 [GRCh38]
Chr5:112177422 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3245C>T (p.Thr1082Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766560]|Hereditary cancer-predisposing syndrome [RCV003168853] Chr5:112838839 [GRCh38]
Chr5:112174536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7459T>C (p.Ser2487Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525607]|Hereditary cancer-predisposing syndrome [RCV000575648] Chr5:112843053 [GRCh38]
Chr5:112178750 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2883T>G (p.Asn961Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766598] Chr5:112838477 [GRCh38]
Chr5:112174174 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1210del (p.Ile404fs) deletion Familial adenomatous polyposis 1 [RCV000709988]|not provided [RCV000484952] Chr5:112819240 [GRCh38]
Chr5:112154937 [GRCh37]
Chr5:5q22.2		 pathogenic|not provided
NM_000038.6(APC):c.1526del (p.Thr509fs) deletion Familial adenomatous polyposis 1 [RCV003335354]|not provided [RCV000485159] Chr5:112827225 [GRCh38]
Chr5:112162922 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.346G>T (p.Gly116Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455917]|not provided [RCV000481675] Chr5:112767314 [GRCh38]
Chr5:112103011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3504_3506del (p.Glu1169del) deletion Familial adenomatous polyposis 1 [RCV003743748]|Hereditary cancer-predisposing syndrome [RCV002341144]|not provided [RCV000481775] Chr5:112839096..112839098 [GRCh38]
Chr5:112174793..112174795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4898C>T (p.Thr1633Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000685771]|Familial adenomatous polyposis 1 [RCV003535763]|Hereditary cancer-predisposing syndrome [RCV001023216]|not provided [RCV000485896]|not specified [RCV001192985] Chr5:112840492 [GRCh38]
Chr5:112176189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7018A>C (p.Asn2340His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651918]|Hereditary cancer-predisposing syndrome [RCV000582404]|not provided [RCV000485956] Chr5:112842612 [GRCh38]
Chr5:112178309 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3536A>G (p.Tyr1179Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525750]|Hereditary cancer-predisposing syndrome [RCV000491910]|not provided [RCV000486102] Chr5:112839130 [GRCh38]
Chr5:112174827 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2098del (p.Asp700fs) deletion Familial adenomatous polyposis 1 [RCV002523377] Chr5:112837690 [GRCh38]
Chr5:112173387 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8241T>G (p.Pro2747=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651903]|Hereditary cancer-predisposing syndrome [RCV001027316] Chr5:112843835 [GRCh38]
Chr5:112179532 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934G>A (p.Val312Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525604]|Hereditary cancer-predisposing syndrome [RCV003298502]|not provided [RCV001508525] Chr5:112818966 [GRCh38]
Chr5:112154663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2876C>T (p.Ser959Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766563]|Hereditary cancer-predisposing syndrome [RCV001016870]|not provided [RCV000758724] Chr5:112838470 [GRCh38]
Chr5:112174167 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.447C>A (p.Asp149Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000461374]|Familial adenomatous polyposis 1 [RCV003651863]|Hereditary cancer-predisposing syndrome [RCV000561667] Chr5:112775653 [GRCh38]
Chr5:112111350 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3578A>G (p.Gln1193Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766554]|Hereditary cancer-predisposing syndrome [RCV000575397]|not provided [RCV001591101] Chr5:112839172 [GRCh38]
Chr5:112174869 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.54G>A (p.Met18Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766595]|Hereditary cancer-predisposing syndrome [RCV000581033] Chr5:112754944 [GRCh38]
Chr5:112090641 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1136C>G (p.Ala379Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230529] Chr5:112819168 [GRCh38]
Chr5:112154865 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1332T>G (p.His444Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651853]|Hereditary cancer-predisposing syndrome [RCV002383828] Chr5:112821915 [GRCh38]
Chr5:112157612 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5917A>G (p.Ser1973Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651886]|Hereditary cancer-predisposing syndrome [RCV001180357] Chr5:112841511 [GRCh38]
Chr5:112177208 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1491A>G (p.Leu497=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766636]|Hereditary cancer-predisposing syndrome [RCV000491080]|not provided [RCV001712563] Chr5:112827190 [GRCh38]
Chr5:112162887 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2569G>A (p.Gly857Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526440]|Familial adenomatous polyposis 1 [RCV003651842]|Hereditary cancer-predisposing syndrome [RCV000568317] Chr5:112838163 [GRCh38]
Chr5:112173860 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1177T>C (p.Ser393Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523398]|Hereditary cancer-predisposing syndrome [RCV000775759]|not specified [RCV000506739] Chr5:112819209 [GRCh38]
Chr5:112154906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5873A>C (p.Asn1958Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526449]|Familial adenomatous polyposis 1 [RCV003651864]|Hereditary cancer-predisposing syndrome [RCV002256270]|not provided [RCV001775816] Chr5:112841467 [GRCh38]
Chr5:112177164 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.749A>G (p.His250Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230492]|Hereditary cancer-predisposing syndrome [RCV000570604]|not specified [RCV001174654] Chr5:112801298 [GRCh38]
Chr5:112136995 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2096G>A (p.Trp699Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523390]|Familial adenomatous polyposis 1 [RCV003337279]|Hereditary cancer-predisposing syndrome [RCV000491133] Chr5:112837690 [GRCh38]
Chr5:112173387 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2114G>C (p.Ser705Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230504]|not provided [RCV001797090] Chr5:112837708 [GRCh38]
Chr5:112173405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8390G>A (p.Ser2797Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523393]|Hereditary cancer-predisposing syndrome [RCV000775771]|not provided [RCV003441883]|not specified [RCV000506420] Chr5:112843984 [GRCh38]
Chr5:112179681 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1866C>G (p.Tyr622Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337283]|Hereditary cancer-predisposing syndrome [RCV002413324]|not provided [RCV000478037] Chr5:112835073 [GRCh38]
Chr5:112170770 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5839del (p.Thr1947fs) deletion not provided [RCV000478380] Chr5:112841432 [GRCh38]
Chr5:112177129 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2567dup (p.Gly857fs) duplication Familial adenomatous polyposis 1 [RCV003337286]|not provided [RCV000478383] Chr5:112838160..112838161 [GRCh38]
Chr5:112173857..112173858 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2964_2965delinsT (p.Glu988fs) indel not provided [RCV000485305] Chr5:112838558..112838559 [GRCh38]
Chr5:112174255..112174256 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.931A>T (p.Lys311Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335355]|Familial adenomatous polyposis 1 [RCV003743739]|not provided [RCV000485442] Chr5:112815591 [GRCh38]
Chr5:112151288 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6186A>C (p.Lys2062Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535766]|Hereditary cancer-predisposing syndrome [RCV001024978]|not provided [RCV000481933] Chr5:112841780 [GRCh38]
Chr5:112177477 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+18_1743+106del deletion Familial adenomatous polyposis 1 [RCV003535761]|Hereditary cancer-predisposing syndrome [RCV000584239]|not specified [RCV000481935] Chr5:112828987..112829075 [GRCh38]
Chr5:112164684..112164772 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3912A>G (p.Ile1304Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766691]|not provided [RCV000486168] Chr5:112839506 [GRCh38]
Chr5:112175203 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2125A>G (p.Asn709Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418501]|not provided [RCV000486206] Chr5:112837719 [GRCh38]
Chr5:112173416 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+8_1958+10del deletion not specified [RCV000486293] Chr5:112835173..112835175 [GRCh38]
Chr5:112170870..112170872 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3656C>A (p.Ser1219Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651923]|not provided [RCV000486296] Chr5:112839250 [GRCh38]
Chr5:112174947 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2133del (p.His712fs) deletion Familial adenomatous polyposis 1 [RCV002230549] Chr5:112837726 [GRCh38]
Chr5:112173423 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3750A>G (p.Lys1250=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230169]|Hereditary cancer-predisposing syndrome [RCV000583952] Chr5:112839344 [GRCh38]
Chr5:112175041 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.335C>G (p.Pro112Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766594]|Hereditary cancer-predisposing syndrome [RCV001020080]|not provided [RCV001770356] Chr5:112767303 [GRCh38]
Chr5:112103000 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5541G>A (p.Thr1847=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003153656]|Familial adenomatous polyposis 1 [RCV003766635]|Hereditary cancer-predisposing syndrome [RCV001024250]|not provided [RCV003736786] Chr5:112841135 [GRCh38]
Chr5:112176832 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5821C>T (p.Pro1941Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766586]|Hereditary cancer-predisposing syndrome [RCV001024575] Chr5:112841415 [GRCh38]
Chr5:112177112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6926C>T (p.Pro2309Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230559]|Familial adenomatous polyposis 1 [RCV003463958]|Hereditary cancer-predisposing syndrome [RCV000775738]|not specified [RCV002222518] Chr5:112842520 [GRCh38]
Chr5:112178217 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3343G>A (p.Val1115Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230588]|Hereditary cancer-predisposing syndrome [RCV000571094] Chr5:112838937 [GRCh38]
Chr5:112174634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1015A>G (p.Ser339Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230522]|Hereditary cancer-predisposing syndrome [RCV000775749] Chr5:112819047 [GRCh38]
Chr5:112154744 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7201C>G (p.Leu2401Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651892] Chr5:112842795 [GRCh38]
Chr5:112178492 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4692A>C (p.Leu1564Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000472811]|Familial adenomatous polyposis 1 [RCV003651894]|Hereditary cancer-predisposing syndrome [RCV000563860]|not specified [RCV002509395] Chr5:112840286 [GRCh38]
Chr5:112175983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.995G>T (p.Arg332Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525611]|Hereditary cancer-predisposing syndrome [RCV001019944] Chr5:112819027 [GRCh38]
Chr5:112154724 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5876C>G (p.Thr1959Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651869] Chr5:112841470 [GRCh38]
Chr5:112177167 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112828856)_(112828972_?)del deletion Familial adenomatous polyposis 1 [RCV000476595] Chr5:112828856..112828972 [GRCh38]
Chr5:112164553..112164669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2097G>A (p.Trp699Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335338]|Hereditary cancer-predisposing syndrome [RCV002418420]|not provided [RCV001800684] Chr5:112837691 [GRCh38]
Chr5:112173388 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6247_6250delinsTGT (p.Ile2083fs) indel Familial adenomatous polyposis 1 [RCV003766583] Chr5:112841841..112841844 [GRCh38]
Chr5:112177538..112177541 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NC_000005.10:g.(?_112780790)_(112846239_?)del deletion Familial adenomatous polyposis 1 [RCV000476663] Chr5:112780790..112846239 [GRCh38]
Chr5:112116487..112181936 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser) single nucleotide variant Desmoid disease, hereditary [RCV002475885]|Familial adenomatous polyposis 1 [RCV002230565]|Hereditary cancer-predisposing syndrome [RCV000775772]|not specified [RCV002248690] Chr5:112843875 [GRCh38]
Chr5:112179572 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+1_1958+4dup duplication Familial adenomatous polyposis 1 [RCV003766593]|Hereditary cancer-predisposing syndrome [RCV000573066]|not provided [RCV003324753] Chr5:112835165..112835166 [GRCh38]
Chr5:112170862..112170863 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7591T>G (p.Ser2531Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766578]|Hereditary cancer-predisposing syndrome [RCV000567469] Chr5:112843185 [GRCh38]
Chr5:112178882 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1778G>A (p.Trp593Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526560]|Familial adenomatous polyposis 1 [RCV003743740]|not provided [RCV000478645] Chr5:112834985 [GRCh38]
Chr5:112170682 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs) deletion Carcinoma of colon [RCV000501734]|Familial adenomatous polyposis 1 [RCV003337285]|Hereditary cancer-predisposing syndrome [RCV002376873]|not provided [RCV000485674] Chr5:112839511..112839515 [GRCh38]
Chr5:112175208..112175212 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.4059_4060insG (p.Phe1354fs) insertion not provided [RCV000485730] Chr5:112839653..112839654 [GRCh38]
Chr5:112175350..112175351 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2677G>T (p.Glu893Ter) single nucleotide variant Carcinoma of colon [RCV000503003]|Familial adenomatous polyposis 1 [RCV000786963]|Familial adenomatous polyposis 1 [RCV003335359]|Hereditary cancer-predisposing syndrome [RCV001186210]|not provided [RCV000485943] Chr5:112838271 [GRCh38]
Chr5:112173968 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4778_4779insT (p.Lys1593fs) insertion Familial adenomatous polyposis 1 [RCV003743746]|Hereditary cancer-predisposing syndrome [RCV003338608]|not provided [RCV000485953] Chr5:112840372..112840373 [GRCh38]
Chr5:112176069..112176070 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3760A>G (p.Ile1254Val) single nucleotide variant APC-related condition [RCV003962331]|Familial adenomatous polyposis 1 [RCV002525751]|Familial adenomatous polyposis 1 [RCV003535743]|Hereditary cancer-predisposing syndrome [RCV000564208]|not provided [RCV000732064] Chr5:112839354 [GRCh38]
Chr5:112175051 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.911T>C (p.Leu304Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525774]|Hereditary cancer-predisposing syndrome [RCV000570748]|not provided [RCV000482238] Chr5:112815571 [GRCh38]
Chr5:112151268 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.725C>G (p.Ala242Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383913]|not provided [RCV000482390] Chr5:112792525 [GRCh38]
Chr5:112128222 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7916A>C (p.Glu2639Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646495]|Familial adenomatous polyposis 1 [RCV003651924]|Hereditary cancer-predisposing syndrome [RCV000582053]|not provided [RCV000486703] Chr5:112843510 [GRCh38]
Chr5:112179207 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-135C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742649] Chr5:112707583 [GRCh38]
Chr5:112043280 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5794A>T (p.Thr1932Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000457967]|Hereditary cancer-predisposing syndrome [RCV000561037]|not provided [RCV000679070] Chr5:112841388 [GRCh38]
Chr5:112177085 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5746C>A (p.Gln1916Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230608]|Hereditary cancer-predisposing syndrome [RCV002348335] Chr5:112841340 [GRCh38]
Chr5:112177037 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3629A>G (p.His1210Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470488]|Hereditary cancer-predisposing syndrome [RCV000775717] Chr5:112839223 [GRCh38]
Chr5:112174920 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.924G>T (p.Leu308=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230873]|Hereditary cancer-predisposing syndrome [RCV002374870] Chr5:112815584 [GRCh38]
Chr5:112151281 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1813G>A (p.Asp605Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766561]|Hereditary cancer-predisposing syndrome [RCV000584487]|not provided [RCV002292552] Chr5:112835020 [GRCh38]
Chr5:112170717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8438C>A (p.Thr2813Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230477]|Familial adenomatous polyposis 1 [RCV003148747]|Hereditary cancer-predisposing syndrome [RCV000565967] Chr5:112844032 [GRCh38]
Chr5:112179729 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.516T>C (p.Leu172=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000461763]|Hereditary cancer-predisposing syndrome [RCV000580075] Chr5:112775722 [GRCh38]
Chr5:112111419 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.(?_112815495)_(112821991_?)del deletion Familial adenomatous polyposis 1 [RCV000461835] Chr5:112815495..112821991 [GRCh38]
Chr5:112151192..112157688 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2309C>G (p.Ser770Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000461862]|Familial adenomatous polyposis 1 [RCV003766577]|Hereditary cancer-predisposing syndrome [RCV002446835] Chr5:112837903 [GRCh38]
Chr5:112173600 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4035A>G (p.Glu1345=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651911]|Hereditary cancer-predisposing syndrome [RCV000571206] Chr5:112839629 [GRCh38]
Chr5:112175326 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.834G>A (p.Gln278=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470484]|Hereditary cancer-predisposing syndrome [RCV000491926]|not provided [RCV001268105] Chr5:112801383 [GRCh38]
Chr5:112137080 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6913A>G (p.Arg2305Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766600] Chr5:112842507 [GRCh38]
Chr5:112178204 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532T>A (p.Phe178Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525612]|Familial adenomatous polyposis 1 [RCV003766590]|Hereditary cancer-predisposing syndrome [RCV001180356]|not provided [RCV001753909]|not specified [RCV001002492] Chr5:112780790 [GRCh38]
Chr5:112116487 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8188G>A (p.Ala2730Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651885]|Hereditary cancer-predisposing syndrome [RCV002429545] Chr5:112843782 [GRCh38]
Chr5:112179479 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.775C>T (p.Arg259Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000465724]|Familial adenomatous polyposis 1 [RCV003743727]|Hereditary cancer-predisposing syndrome [RCV000572577]|not provided [RCV001357050]|not specified [RCV000779741] Chr5:112801324 [GRCh38]
Chr5:112137021 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3104A>C (p.Gln1035Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230525] Chr5:112838698 [GRCh38]
Chr5:112174395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7540A>G (p.Thr2514Ala) single nucleotide variant APC-related condition [RCV003409635]|Familial adenomatous polyposis 1 [RCV002523368]|Hereditary cancer-predisposing syndrome [RCV000575061]|not provided [RCV001764443]|not specified [RCV001778967] Chr5:112843134 [GRCh38]
Chr5:112178831 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NC_000005.9:g.(?_112090570)_(112157688_?)dup duplication Familial adenomatous polyposis 1 [RCV000469367] Chr5:112754873..112821991 [GRCh38]
Chr5:112090570..112157688 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.307G>C (p.Val103Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766569] Chr5:112767275 [GRCh38]
Chr5:112102972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3639A>G (p.Ser1213=) single nucleotide variant APC-related condition [RCV003970362]|Familial adenomatous polyposis 1 [RCV002231064]|Hereditary cancer-predisposing syndrome [RCV000570002] Chr5:112839233 [GRCh38]
Chr5:112174930 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1642T>G (p.Leu548Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651895]|Hereditary cancer-predisposing syndrome [RCV000565417]|not provided [RCV002291636] Chr5:112828871 [GRCh38]
Chr5:112164568 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5823A>G (p.Pro1941=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525727]|Familial adenomatous polyposis 1 [RCV003535739]|Hereditary cancer-predisposing syndrome [RCV000573941]|not provided [RCV000473083] Chr5:112841417 [GRCh38]
Chr5:112177114 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6790G>T (p.Gly2264Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523357]|Hereditary cancer-predisposing syndrome [RCV000571190]|not provided [RCV001770355] Chr5:112842384 [GRCh38]
Chr5:112178081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4101G>C (p.Gln1367His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766580]|Hereditary cancer-predisposing syndrome [RCV000570866]|not specified [RCV000600295] Chr5:112839695 [GRCh38]
Chr5:112175392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5011G>A (p.Ala1671Thr) single nucleotide variant Desmoid disease, hereditary [RCV002481467]|Familial adenomatous polyposis 1 [RCV002523392]|Hereditary cancer-predisposing syndrome [RCV000569027]|not provided [RCV001775818] Chr5:112840605 [GRCh38]
Chr5:112176302 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+5G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003476101]|Familial multiple polyposis syndrome [RCV001192946]|Hereditary cancer-predisposing syndrome [RCV000490993]|not provided [RCV000985284] Chr5:112819349 [GRCh38]
Chr5:112155046 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.681C>G (p.Asp227Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000476893]|Familial adenomatous polyposis 1 [RCV003651888]|Hereditary cancer-predisposing syndrome [RCV000572312] Chr5:112792481 [GRCh38]
Chr5:112128178 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5764C>T (p.Gln1922Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356762]|not provided [RCV000479055] Chr5:112841358 [GRCh38]
Chr5:112177055 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.835-8A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002525749]|Familial adenomatous polyposis 1 [RCV003535741]|Hereditary cancer-predisposing syndrome [RCV002436523]|not provided [RCV000486412] Chr5:112815487 [GRCh38]
Chr5:112151184 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.298del (p.Glu100fs) deletion Familial adenomatous polyposis 1 [RCV002230916]|Familial adenomatous polyposis 1 [RCV002525821]|not provided [RCV000486524] Chr5:112767264 [GRCh38]
Chr5:112102961 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|not provided
NM_000038.6(APC):c.4886A>G (p.His1629Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526653]|Hereditary cancer-predisposing syndrome [RCV000775773]|not provided [RCV000478092] Chr5:112840480 [GRCh38]
Chr5:112176177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6665C>T (p.Pro2222Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525882]|Hereditary cancer-predisposing syndrome [RCV000569654]|not provided [RCV000478110] Chr5:112842259 [GRCh38]
Chr5:112177956 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8146G>T (p.Val2716Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766654]|not provided [RCV000478199]|not specified [RCV003155200] Chr5:112843740 [GRCh38]
Chr5:112179437 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3512G>A (p.Arg1171His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766661]|Hereditary cancer-predisposing syndrome [RCV000491277]|not provided [RCV003478055]|not specified [RCV000482580] Chr5:112839106 [GRCh38]
Chr5:112174803 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5845G>A (p.Glu1949Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356773]|not provided [RCV000482628] Chr5:112841439 [GRCh38]
Chr5:112177136 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1956C>T (p.His652=) single nucleotide variant Carcinoma of colon [RCV000502897]|Familial adenomatous polyposis 1 [RCV002525790]|Familial adenomatous polyposis 1 [RCV003743733]|Hereditary cancer-predisposing syndrome [RCV001013836]|not provided [RCV000482661] Chr5:112835163 [GRCh38]
Chr5:112170860 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.-18-3dup duplication not specified [RCV000486808] Chr5:112754869..112754870 [GRCh38]
Chr5:112090566..112090567 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5639A>C (p.Glu1880Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535767]|Hereditary cancer-predisposing syndrome [RCV001024348]|not provided [RCV000486925] Chr5:112841233 [GRCh38]
Chr5:112176930 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+2dup duplication Familial adenomatous polyposis 1 [RCV002230448]|Familial adenomatous polyposis 1 [RCV003335337]|Hereditary cancer-predisposing syndrome [RCV002348333] Chr5:112775738..112775739 [GRCh38]
Chr5:112111435..112111436 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5877T>A (p.Thr1959=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230877]|Hereditary cancer-predisposing syndrome [RCV000570056] Chr5:112841471 [GRCh38]
Chr5:112177168 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7286C>G (p.Ser2429Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651891]|Hereditary cancer-predisposing syndrome [RCV001026229] Chr5:112842880 [GRCh38]
Chr5:112178577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8038C>T (p.Pro2680Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651868]|Hereditary cancer-predisposing syndrome [RCV000585717] Chr5:112843632 [GRCh38]
Chr5:112179329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2341C>T (p.Pro781Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470486] Chr5:112837935 [GRCh38]
Chr5:112173632 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5976C>T (p.Pro1992=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651908]|Hereditary cancer-predisposing syndrome [RCV003168923] Chr5:112841570 [GRCh38]
Chr5:112177267 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3577_3578del (p.Gln1193fs) deletion Familial adenomatous polyposis 1 [RCV002230555]|Hereditary cancer-predisposing syndrome [RCV002460078]|not provided [RCV001567918] Chr5:112839170..112839171 [GRCh38]
Chr5:112174867..112174868 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.768T>C (p.Asp256=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231068]|Hereditary cancer-predisposing syndrome [RCV001523947] Chr5:112801317 [GRCh38]
Chr5:112137014 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2260G>T (p.Val754Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000465815]|Familial adenomatous polyposis 1 [RCV002230138]|Hereditary cancer-predisposing syndrome [RCV002446834] Chr5:112837854 [GRCh38]
Chr5:112173551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4492G>A (p.Asp1498Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230517]|Hereditary cancer-predisposing syndrome [RCV001179767] Chr5:112840086 [GRCh38]
Chr5:112175783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1965C>T (p.Ile655=) single nucleotide variant APC-related condition [RCV003899993]|Familial adenomatous polyposis 1 [RCV003651904]|Hereditary cancer-predisposing syndrome [RCV000571127]|not provided [RCV000842154] Chr5:112837559 [GRCh38]
Chr5:112173256 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2259T>G (p.His753Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766581]|Hereditary cancer-predisposing syndrome [RCV002446836] Chr5:112837853 [GRCh38]
Chr5:112173550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2145C>T (p.His715=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651905]|Hereditary cancer-predisposing syndrome [RCV001186640] Chr5:112837739 [GRCh38]
Chr5:112173436 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.855C>T (p.Asp285=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766649]|Hereditary cancer-predisposing syndrome [RCV001186641] Chr5:112815515 [GRCh38]
Chr5:112151212 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5916C>G (p.Leu1972=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651900]|Hereditary cancer-predisposing syndrome [RCV002356756] Chr5:112841510 [GRCh38]
Chr5:112177207 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4758G>A (p.Lys1586=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651913]|Hereditary cancer-predisposing syndrome [RCV000575832]|not provided [RCV003884566]|not specified [RCV000605703] Chr5:112840352 [GRCh38]
Chr5:112176049 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3433G>C (p.Glu1145Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766602] Chr5:112839027 [GRCh38]
Chr5:112174724 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1862del (p.Thr621fs) deletion not provided [RCV000479266] Chr5:112835069 [GRCh38]
Chr5:112170766 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.956del (p.Leu319fs) deletion Familial adenomatous polyposis 1 [RCV002526531]|Familial adenomatous polyposis 1 [RCV003535747]|Hereditary cancer-predisposing syndrome [RCV002256317]|not provided [RCV000486688] Chr5:112818987 [GRCh38]
Chr5:112154684 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7262C>T (p.Ser2421Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526526]|Familial adenomatous polyposis 1 [RCV003535744]|Hereditary cancer-predisposing syndrome [RCV000564092]|not provided [RCV000478319] Chr5:112842856 [GRCh38]
Chr5:112178553 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2360G>A (p.Ser787Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV000706601]|Familial adenomatous polyposis 1 [RCV003535764]|Hereditary cancer-predisposing syndrome [RCV000775775]|not provided [RCV000478369] Chr5:112837954 [GRCh38]
Chr5:112173651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5066C>A (p.Thr1689Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526661]|Hereditary cancer-predisposing syndrome [RCV002341146]|not provided [RCV000478460] Chr5:112840660 [GRCh38]
Chr5:112176357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.841A>G (p.Thr281Ala) single nucleotide variant APC-related condition [RCV003409657]|Familial adenomatous polyposis 1 [RCV003743736]|Hereditary cancer-predisposing syndrome [RCV000572352]|not provided [RCV000478476] Chr5:112815501 [GRCh38]
Chr5:112151198 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.813G>A (p.Met271Ile) single nucleotide variant Desmoid disease, hereditary [RCV002496857]|Familial adenomatous polyposis 1 [RCV003463997]|Hereditary cancer-predisposing syndrome [RCV000573645]|not provided [RCV000478524]|not specified [RCV001824796] Chr5:112801362 [GRCh38]
Chr5:112137059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-4T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002230945]|Familial multiple polyposis syndrome [RCV000659271]|Hereditary cancer-predisposing syndrome [RCV000776476]|not provided [RCV000482851] Chr5:112815491 [GRCh38]
Chr5:112151188 [GRCh37]
Chr5:5q22.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_000038.6(APC):c.4706A>G (p.Asp1569Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463999]|Hereditary cancer-predisposing syndrome [RCV002341133]|not provided [RCV000487107] Chr5:112840300 [GRCh38]
Chr5:112175997 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19G>A single nucleotide variant not provided [RCV000487261] Chr5:112737925 [GRCh38]
Chr5:112073622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.874_880del (p.Ser293fs) deletion Familial adenomatous polyposis 1 [RCV002230455] Chr5:112815531..112815537 [GRCh38]
Chr5:112151228..112151234 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2295T>C (p.Asp765=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230864] Chr5:112837889 [GRCh38]
Chr5:112173586 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.761C>G (p.Ser254Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230567]|Familial adenomatous polyposis 1 [RCV003766585]|Hereditary cancer-predisposing syndrome [RCV002393156] Chr5:112801310 [GRCh38]
Chr5:112137007 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1958G>T (p.Arg653Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230546]|Familial adenomatous polyposis 1 [RCV003766582]|Hereditary cancer-predisposing syndrome [RCV000491095] Chr5:112835165 [GRCh38]
Chr5:112170862 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8382C>A (p.Ser2794Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463960]|Hereditary cancer-predisposing syndrome [RCV000570814] Chr5:112843976 [GRCh38]
Chr5:112179673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6136G>T (p.Ala2046Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525598]|Hereditary cancer-predisposing syndrome [RCV002356700] Chr5:112841730 [GRCh38]
Chr5:112177427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6553A>G (p.Ser2185Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766567]|Hereditary cancer-predisposing syndrome [RCV002365659]|Malignant tumor of ascending colon [RCV000677772] Chr5:112842147 [GRCh38]
Chr5:112177844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5241G>A (p.Met1747Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523376]|Hereditary cancer-predisposing syndrome [RCV001023792] Chr5:112840835 [GRCh38]
Chr5:112176532 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6648C>T (p.Pro2216=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651907]|Hereditary cancer-predisposing syndrome [RCV001187395]|not provided [RCV000612985] Chr5:112842242 [GRCh38]
Chr5:112177939 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-5A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002230502] Chr5:112827103 [GRCh38]
Chr5:112162800 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8391C>A (p.Ser2797Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523351]|Hereditary cancer-predisposing syndrome [RCV002436456]|not provided [RCV001284725] Chr5:112843985 [GRCh38]
Chr5:112179682 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8150G>C (p.Gly2717Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230557]|Hereditary cancer-predisposing syndrome [RCV001186643]|not provided [RCV003156244] Chr5:112843744 [GRCh38]
Chr5:112179441 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7929A>C (p.Leu2643=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230870]|Hereditary cancer-predisposing syndrome [RCV002418485] Chr5:112843523 [GRCh38]
Chr5:112179220 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6496C>A (p.Arg2166=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766640]|Hereditary cancer-predisposing syndrome [RCV000775342] Chr5:112842090 [GRCh38]
Chr5:112177787 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8424A>G (p.Pro2808=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230876] Chr5:112844018 [GRCh38]
Chr5:112179715 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5865T>C (p.Ala1955=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651898]|Hereditary cancer-predisposing syndrome [RCV001024621] Chr5:112841459 [GRCh38]
Chr5:112177156 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4357_4363delinsAAT (p.Pro1453fs) indel Familial adenomatous polyposis 1 [RCV003633508] Chr5:112839951..112839957 [GRCh38]
Chr5:112175648..112175654 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5569del (p.Ser1857fs) deletion Familial adenomatous polyposis 1 [RCV003743747]|not provided [RCV000487142] Chr5:112841159 [GRCh38]
Chr5:112176856 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3335_3336del (p.Thr1112fs) deletion not provided [RCV000487380] Chr5:112838928..112838929 [GRCh38]
Chr5:112174625..112174626 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4147A>G (p.Met1383Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651922]|Hereditary cancer-predisposing syndrome [RCV000573933]|not provided [RCV000478584]|not specified [RCV000780866] Chr5:112839741 [GRCh38]
Chr5:112175438 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+3A>G single nucleotide variant not provided [RCV000478585] Chr5:112737928 [GRCh38]
Chr5:112073625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1876A>G (p.Thr626Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525866]|Familial adenomatous polyposis 1 [RCV003535757]|Hereditary cancer-predisposing syndrome [RCV000491486]|not provided [RCV000478621] Chr5:112835083 [GRCh38]
Chr5:112170780 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1394C>G (p.Ala465Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651927]|Hereditary cancer-predisposing syndrome [RCV000775129]|not provided [RCV000478815] Chr5:112821977 [GRCh38]
Chr5:112157674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4780C>T (p.Pro1594Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000705378]|Hereditary cancer-predisposing syndrome [RCV000567426]|not provided [RCV000478830] Chr5:112840374 [GRCh38]
Chr5:112176071 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2503T>C (p.Ser835Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525792]|Familial adenomatous polyposis 1 [RCV003153658]|Hereditary cancer-predisposing syndrome [RCV000771555]|not provided [RCV000483161]|not specified [RCV002222524] Chr5:112838097 [GRCh38]
Chr5:112173794 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5784G>A (p.Gln1928=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651902]|Hereditary cancer-predisposing syndrome [RCV001024527]|not specified [RCV000609687] Chr5:112841378 [GRCh38]
Chr5:112177075 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.471G>A (p.Trp157Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523387]|Familial adenomatous polyposis 1 [RCV003651875]|Hereditary cancer-predisposing syndrome [RCV002339182]|not provided [RCV000583237] Chr5:112775677 [GRCh38]
Chr5:112111374 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5756A>G (p.Asn1919Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651852]|Familial multiple polyposis syndrome [RCV000590887]|Hereditary cancer-predisposing syndrome [RCV000571591]|not provided [RCV001283866] Chr5:112841350 [GRCh38]
Chr5:112177047 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+3del deletion Familial adenomatous polyposis 1 [RCV003651855]|Hereditary cancer-predisposing syndrome [RCV002383829]|not provided [RCV001551634] Chr5:112792531 [GRCh38]
Chr5:112128228 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1402G>T (p.Glu468Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766589] Chr5:112821985 [GRCh38]
Chr5:112157682 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4124A>G (p.His1375Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651859]|Hereditary cancer-predisposing syndrome [RCV000571708]|not provided [RCV002461206] Chr5:112839718 [GRCh38]
Chr5:112175415 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2795C>A (p.Ser932Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337275]|Hereditary cancer-predisposing syndrome [RCV002436457]|not provided [RCV000506242] Chr5:112838389 [GRCh38]
Chr5:112174086 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7909G>A (p.Gly2637Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766559]|Hereditary cancer-predisposing syndrome [RCV001026940]|not provided [RCV001569906] Chr5:112843503 [GRCh38]
Chr5:112179200 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.759C>T (p.Gly253=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651909]|Hereditary cancer-predisposing syndrome [RCV001026604] Chr5:112801308 [GRCh38]
Chr5:112137005 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-3C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651889]|Hereditary cancer-predisposing syndrome [RCV001179769]|not provided [RCV001577551] Chr5:112766323 [GRCh38]
Chr5:112102020 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5818A>G (p.Ile1940Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002230171] Chr5:112841412 [GRCh38]
Chr5:112177109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4986C>G (p.Ile1662Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651846]|Hereditary cancer-predisposing syndrome [RCV000575450] Chr5:112840580 [GRCh38]
Chr5:112176277 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1759dup (p.Ser587fs) duplication Familial adenomatous polyposis 1 [RCV002230462] Chr5:112834962..112834963 [GRCh38]
Chr5:112170659..112170660 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.300A>G (p.Glu100=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766643] Chr5:112767268 [GRCh38]
Chr5:112102965 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8017A>C (p.Arg2673=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526503]|Hereditary cancer-predisposing syndrome [RCV000575844]|not provided [RCV001704581] Chr5:112843611 [GRCh38]
Chr5:112179308 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1313-8T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003766645] Chr5:112821888 [GRCh38]
Chr5:112157585 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4921G>A (p.Val1641Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766597]|Hereditary cancer-predisposing syndrome [RCV001023270] Chr5:112840515 [GRCh38]
Chr5:112176212 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3782C>T (p.Thr1261Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002525848]|Familial adenomatous polyposis 1 [RCV003535754]|Hereditary cancer-predisposing syndrome [RCV002350064]|not provided [RCV000478845] Chr5:112839376 [GRCh38]
Chr5:112175073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3313C>T (p.Arg1105Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470563]|Hereditary cancer-predisposing syndrome [RCV001019909]|not provided [RCV000478947]|not specified [RCV003493598] Chr5:112838907 [GRCh38]
Chr5:112174604 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5283C>A (p.Asn1761Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000548462]|Familial adenomatous polyposis 1 [RCV003316637]|Familial adenomatous polyposis 1 [RCV003743743]|Hereditary cancer-predisposing syndrome [RCV000571235]|not provided [RCV000479049] Chr5:112840877 [GRCh38]
Chr5:112176574 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4408G>C (p.Ala1470Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535760]|Hereditary cancer-predisposing syndrome [RCV000581076]|not provided [RCV000479051] Chr5:112840002 [GRCh38]
Chr5:112175699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7910_7912del (p.Gly2637del) deletion Familial adenomatous polyposis 1 [RCV003651925]|Hereditary cancer-predisposing syndrome [RCV003343853]|not provided [RCV000479070] Chr5:112843502..112843504 [GRCh38]
Chr5:112179199..112179201 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.1-?_8532+?del deletion Familial multiple polyposis syndrome [RCV000501029] Chr5:112090588..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5978del (p.Pro1993fs) deletion Carcinoma of colon [RCV000501056]|Familial adenomatous polyposis 1 [RCV002524131]|Familial adenomatous polyposis 1 [RCV003535795] Chr5:112841568 [GRCh38]
Chr5:112177265 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3542T>A (p.Leu1181Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337299]|Familial multiple polyposis syndrome [RCV000503307] Chr5:112839136 [GRCh38]
Chr5:112174833 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2938A>T (p.Lys980Ter) single nucleotide variant Carcinoma of colon [RCV000503388] Chr5:112838532 [GRCh38]
Chr5:112174229 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5017G>T (p.Glu1673Ter) single nucleotide variant not provided [RCV000503407] Chr5:112840611 [GRCh38]
Chr5:112176308 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1904G>A (p.Gly635Glu) single nucleotide variant Carcinoma of colon [RCV000501118] Chr5:112835111 [GRCh38]
Chr5:112170808 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6135del (p.Ala2046fs) deletion Carcinoma of colon [RCV000501161] Chr5:112841728 [GRCh38]
Chr5:112177425 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1370C>A (p.Ser457Ter) single nucleotide variant Carcinoma of colon [RCV000501164]|Colonic neoplasm [RCV001643225]|Familial adenomatous polyposis 1 [RCV002524125]|Familial adenomatous polyposis 1 [RCV003743762]|Hereditary cancer-predisposing syndrome [RCV001186209]|not provided [RCV002286743] Chr5:112821953 [GRCh38]
Chr5:112157650 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4735_4736del (p.Ile1579fs) deletion Familial adenomatous polyposis 1 [RCV003337302]|Familial multiple polyposis syndrome [RCV000501182] Chr5:112840328..112840329 [GRCh38]
Chr5:112176025..112176026 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.325G>T (p.Glu109Ter) single nucleotide variant Carcinoma of colon [RCV000503428] Chr5:112767293 [GRCh38]
Chr5:112102990 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4384_4385del (p.Lys1462fs) deletion Familial adenomatous polyposis 1 [RCV001845050]|Familial adenomatous polyposis 1 [RCV003337300]|not provided [RCV000503564] Chr5:112839976..112839977 [GRCh38]
Chr5:112175673..112175674 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.5(APC):c.1409-?_1626+?del deletion Familial multiple polyposis syndrome [RCV000501241]   pathogenic|likely pathogenic
NM_000038.6(APC):c.3827_3829delinsA (p.Ser1276fs) indel not provided [RCV000501272] Chr5:112839421..112839423 [GRCh38]
Chr5:112175118..112175120 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.730-1G>C single nucleotide variant not provided [RCV000501291] Chr5:112801278 [GRCh38]
Chr5:112136975 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.7960del (p.Thr2654fs) deletion Familial adenomatous polyposis 1 [RCV003335431]|not provided [RCV000501307] Chr5:112843551 [GRCh38]
Chr5:112179248 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2819C>T (p.Ser940Leu) single nucleotide variant Carcinoma of colon [RCV000503588]|Familial adenomatous polyposis 1 [RCV002524126]|Hereditary cancer-predisposing syndrome [RCV000580468]|not provided [RCV000513101]|not specified [RCV002268134] Chr5:112838413 [GRCh38]
Chr5:112174110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4060delinsAA (p.Phe1354fs) indel Carcinoma of colon [RCV000503626] Chr5:112839654 [GRCh38]
Chr5:112175351 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs) deletion Carcinoma of colon [RCV000501415]|Familial adenomatous polyposis 1 [RCV003337297]|Hereditary cancer-predisposing syndrome [RCV002341178] Chr5:112839061..112839064 [GRCh38]
Chr5:112174758..112174761 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1605_1606del (p.Glu536fs) deletion Familial adenomatous polyposis 1 [RCV003337293]|Familial multiple polyposis syndrome [RCV000501433] Chr5:112827985..112827986 [GRCh38]
Chr5:112163682..112163683 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.594dup (p.Ala199fs) duplication Carcinoma of colon [RCV000503760] Chr5:112780850..112780851 [GRCh38]
Chr5:112116547..112116548 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7508G>A (p.Gly2503Glu) single nucleotide variant Carcinoma of colon [RCV000503773]|Hereditary cancer-predisposing syndrome [RCV002395210] Chr5:112843102 [GRCh38]
Chr5:112178799 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3028del (p.Ser1010fs) deletion Carcinoma of colon [RCV000503832] Chr5:112838622 [GRCh38]
Chr5:112174319 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-85-?_1048+?del deletion Familial multiple polyposis syndrome [RCV000503890] Chr5:112073556..112154777 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1974_1975del (p.Asn659fs) microsatellite Familial adenomatous polyposis 1 [RCV000699866]|Familial adenomatous polyposis 1 [RCV003335418] Chr5:112837563..112837564 [GRCh38]
Chr5:112173260..112173261 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.1313-?_8532+?del deletion Familial multiple polyposis syndrome [RCV000503951] Chr5:112157593..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4405C>T (p.Gln1469Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337301]|Familial multiple polyposis syndrome [RCV000503990] Chr5:112839999 [GRCh38]
Chr5:112175696 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4241del (p.Val1414fs) deletion Carcinoma of colon [RCV000501685] Chr5:112839835 [GRCh38]
Chr5:112175532 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1048_1141del (p.Ser350fs) deletion Familial multiple polyposis syndrome [RCV000501745]|not provided [RCV000522413] Chr5:112819079..112819172 [GRCh38]
Chr5:112154776..112154869 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.532-14_532-12del microsatellite Familial adenomatous polyposis 1 [RCV001353825]|Familial adenomatous polyposis 1 [RCV003103997]|Hereditary cancer-predisposing syndrome [RCV000581877]|not provided [RCV001722422] Chr5:112780771..112780773 [GRCh38]
Chr5:112116468..112116470 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.706C>T (p.Gln236Ter) single nucleotide variant Carcinoma of colon [RCV000504016]|Familial adenomatous polyposis 1 [RCV003335411]|Hereditary cancer-predisposing syndrome [RCV002367679] Chr5:112792506 [GRCh38]
Chr5:112128203 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3190G>T (p.Glu1064Ter) single nucleotide variant Carcinoma of colon [RCV000504093] Chr5:112838784 [GRCh38]
Chr5:112174481 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1779G>A (p.Trp593Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335417]|Hereditary cancer-predisposing syndrome [RCV000708599]|not provided [RCV000504103] Chr5:112834986 [GRCh38]
Chr5:112170683 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.539T>A (p.Leu180Ter) single nucleotide variant Familial multiple polyposis syndrome [RCV000499535] Chr5:112780797 [GRCh38]
Chr5:112116494 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.203T>G (p.Leu68Ter) single nucleotide variant Carcinoma of colon [RCV000501918]|Familial adenomatous polyposis 1 [RCV003335409]|Familial adenomatous polyposis 1 [RCV003743760] Chr5:112766393 [GRCh38]
Chr5:112102090 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2895_2896del (p.Asn965fs) deletion not provided [RCV000501960] Chr5:112838488..112838489 [GRCh38]
Chr5:112174185..112174186 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.1744-4C>G single nucleotide variant Carcinoma of colon [RCV000504229]|Familial adenomatous polyposis 1 [RCV003535791]|Hereditary cancer-predisposing syndrome [RCV001012986] Chr5:112834947 [GRCh38]
Chr5:112170644 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.3114_3115del (p.Gly1039fs) deletion Carcinoma of colon [RCV000504269] Chr5:112838708..112838709 [GRCh38]
Chr5:112174405..112174406 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1596A>G (p.Gln532=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535790]|Hereditary cancer-predisposing syndrome [RCV000776707]|not provided [RCV001353676]|not specified [RCV000499632] Chr5:112827976 [GRCh38]
Chr5:112163673 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.5(APC):c.3146-?_8532+?del deletion Familial multiple polyposis syndrome [RCV000499639] Chr5:112174437..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3786_3787del (p.Tyr1262_Cys1263delinsTer) deletion Familial multiple polyposis syndrome [RCV000504322] Chr5:112839380..112839381 [GRCh38]
Chr5:112175077..112175078 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.1-?_1958+?del deletion Familial multiple polyposis syndrome [RCV000504403] Chr5:112090588..112170862 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4660G>T (p.Glu1554Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231173]|Familial multiple polyposis syndrome [RCV000504432] Chr5:112840254 [GRCh38]
Chr5:112175951 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.685delinsTT (p.Leu229fs) indel not provided [RCV000504454] Chr5:112792485 [GRCh38]
Chr5:112128182 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.220+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000499663]|Familial adenomatous polyposis 1 [RCV003743761]|Hereditary cancer-predisposing syndrome [RCV002431451] Chr5:112766411 [GRCh38]
Chr5:112102108 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4726G>T (p.Glu1576Ter) single nucleotide variant Familial multiple polyposis syndrome [RCV000499734]|Hereditary cancer-predisposing syndrome [RCV002341179] Chr5:112840320 [GRCh38]
Chr5:112176017 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.472dup (p.Tyr158fs) duplication not provided [RCV000499796] Chr5:112775677..112775678 [GRCh38]
Chr5:112111374..112111375 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5541del (p.Pro1848fs) deletion not provided [RCV000502038] Chr5:112841135 [GRCh38]
Chr5:112176832 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.667C>T (p.Gln223Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002524123]|Familial adenomatous polyposis 1 [RCV003535788]|Familial multiple polyposis syndrome [RCV000502052]|not provided [RCV000657601] Chr5:112792467 [GRCh38]
Chr5:112128164 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1343dup (p.Ala449fs) duplication not provided [RCV001269860] Chr5:112821924..112821925 [GRCh38]
Chr5:112157621..112157622 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4353del (p.Val1452fs) deletion Familial multiple polyposis syndrome [RCV000502116] Chr5:112839946 [GRCh38]
Chr5:112175643 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3725del (p.Gln1242fs) deletion not provided [RCV000504510] Chr5:112839319 [GRCh38]
Chr5:112175016 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs) microsatellite Carcinoma of colon [RCV000504522]|Familial adenomatous polyposis 1 [RCV002524124]|Familial adenomatous polyposis 1 [RCV003335414]|Hereditary cancer-predisposing syndrome [RCV002383959]|not provided [RCV002291650] Chr5:112821929..112821930 [GRCh38]
Chr5:112157626..112157627 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2819del (p.Ser940fs) deletion Familial multiple polyposis syndrome [RCV000499848] Chr5:112838413 [GRCh38]
Chr5:112174110 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4953_4954del (p.Ser1652fs) deletion Carcinoma of colon [RCV000499864] Chr5:112840545..112840546 [GRCh38]
Chr5:112176242..112176243 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.4164T>A (p.Thr1388=) single nucleotide variant Familial multiple polyposis syndrome [RCV000499883] Chr5:112839758 [GRCh38]
Chr5:112175455 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2694del (p.His898fs) deletion not provided [RCV000499903] Chr5:112838288 [GRCh38]
Chr5:112173985 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3454C>T (p.Gln1152Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337296]|not provided [RCV000499959] Chr5:112839048 [GRCh38]
Chr5:112174745 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.502del (p.Arg168fs) deletion Familial adenomatous polyposis 1 [RCV003335410]|Familial multiple polyposis syndrome [RCV000499978]|Hereditary cancer-predisposing syndrome [RCV002350113] Chr5:112775705 [GRCh38]
Chr5:112111402 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-85-?_-19+?del deletion Familial multiple polyposis syndrome [RCV000502131]   pathogenic
NM_000038.5(APC):c.423-?_729+?del deletion Familial multiple polyposis syndrome [RCV000502187]   pathogenic
NM_000038.6(APC):c.2093T>G (p.Leu698Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337294]|Hereditary cancer-predisposing syndrome [RCV002420270]|not provided [RCV000502286] Chr5:112837687 [GRCh38]
Chr5:112173384 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.1-?_1408+?del deletion Familial multiple polyposis syndrome [RCV000502303] Chr5:112090588..112157688 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6830C>G (p.Ser2277Cys) single nucleotide variant Carcinoma of colon [RCV000499993]|Hereditary cancer-predisposing syndrome [RCV001025705] Chr5:112842424 [GRCh38]
Chr5:112178121 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.620G>A (p.Cys207Tyr) single nucleotide variant Carcinoma of colon [RCV000500054] Chr5:112780878 [GRCh38]
Chr5:112116575 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7838G>A (p.Arg2613Lys) single nucleotide variant Carcinoma of colon [RCV000502292]|Familial adenomatous polyposis 1 [RCV003535796]|Hereditary cancer-predisposing syndrome [RCV001176503]|not provided [RCV001764480] Chr5:112843432 [GRCh38]
Chr5:112179129 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1766_1767dup (p.Ser590Ter) duplication Carcinoma of colon [RCV000502326] Chr5:112834972..112834973 [GRCh38]
Chr5:112170669..112170670 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4645dup (p.Gln1549fs) duplication not provided [RCV000502366] Chr5:112840237..112840238 [GRCh38]
Chr5:112175934..112175935 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2995C>T (p.Gln999Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337295]|not provided [RCV000502386] Chr5:112838589 [GRCh38]
Chr5:112174286 [GRCh37]
Chr5:5q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3709_3710del (p.Gln1237fs) microsatellite Familial adenomatous polyposis 1 [RCV002289685]|Familial adenomatous polyposis 1 [RCV002527174]|not provided [RCV000502438] Chr5:112839301..112839302 [GRCh38]
Chr5:112174998..112174999 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.7525C>T (p.Pro2509Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525981]|not provided [RCV001358150] Chr5:112843119 [GRCh38]
Chr5:112178816 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.3567dup (p.Ser1190fs) duplication Carcinoma of colon [RCV000500243] Chr5:112839160..112839161 [GRCh38]
Chr5:112174857..112174858 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.646-1G>C single nucleotide variant not provided [RCV000500268] Chr5:112792445 [GRCh38]
Chr5:112128142 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1213del (p.Arg405fs) deletion Familial adenomatous polyposis 1 [RCV000502557]|Familial adenomatous polyposis 1 [RCV003335413] Chr5:112819244 [GRCh38]
Chr5:112154941 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2950G>T (p.Glu984Ter) single nucleotide variant Carcinoma of colon [RCV000500319]|Familial adenomatous polyposis 1 [RCV002524127]|Familial adenomatous polyposis 1 [RCV003535792] Chr5:112838544 [GRCh38]
Chr5:112174241 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-85-?_834+?del deletion Familial multiple polyposis syndrome [RCV000500336]   pathogenic
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter) single nucleotide variant Carcinoma of colon [RCV000500372]|Familial adenomatous polyposis 1 [RCV003335424]|Hereditary cancer-predisposing syndrome [RCV002350114] Chr5:112839276 [GRCh38]
Chr5:112174973 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3497_3501del (p.Lys1165_Tyr1166insTer) deletion Familial adenomatous polyposis 1 [RCV003337298]|not provided [RCV001268049] Chr5:112839088..112839092 [GRCh38]
Chr5:112174785..112174789 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3901dup (p.Thr1301fs) duplication Carcinoma of colon [RCV000502705]|Desmoid disease, hereditary [RCV002496933]|Familial adenomatous polyposis 1 [RCV003335425]|Familial multiple polyposis syndrome [RCV002222536]|Hereditary cancer-predisposing syndrome [RCV002255418]|not provided [RCV000657192] Chr5:112839494..112839495 [GRCh38]
Chr5:112175191..112175192 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7966G>T (p.Asp2656Tyr) single nucleotide variant not provided [RCV000502714] Chr5:112843560 [GRCh38]
Chr5:112179257 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.492_495del (p.Asn164fs) deletion Carcinoma of colon [RCV000502717] Chr5:112775698..112775701 [GRCh38]
Chr5:112111395..112111398 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-85-?_1743+?del deletion Familial multiple polyposis syndrome [RCV000500535]   pathogenic
NM_000038.6(APC):c.4671del (p.Ile1557fs) deletion Familial adenomatous polyposis 1 [RCV003335427]|Familial multiple polyposis syndrome [RCV000502811] Chr5:112840264 [GRCh38]
Chr5:112175961 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.1495C>A (p.Arg499=) single nucleotide variant Familial multiple polyposis syndrome [RCV000502823] Chr5:112827194 [GRCh38]
Chr5:112162891 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3766C>T (p.Gln1256Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001258086]|Familial adenomatous polyposis 1 [RCV003535794]|not provided [RCV000502893] Chr5:112839360 [GRCh38]
Chr5:112175057 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2186_2187insGCAGCTT (p.Met730fs) insertion Carcinoma of colon [RCV000500648] Chr5:112837779..112837780 [GRCh38]
Chr5:112173476..112173477 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.346_359del (p.Gly116fs) deletion Carcinoma of colon [RCV000500692] Chr5:112767313..112767326 [GRCh38]
Chr5:112103010..112103023 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1787C>G (p.Ser596Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413372]|not provided [RCV000500729] Chr5:112834994 [GRCh38]
Chr5:112170691 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs) microsatellite Familial adenomatous polyposis 1 [RCV003335429]|Gastric cancer [RCV003159612]|Hereditary cancer-predisposing syndrome [RCV001023039]|not provided [RCV000502953] Chr5:112840372..112840375 [GRCh38]
Chr5:112176069..112176072 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1409-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003337292]|Hereditary cancer-predisposing syndrome [RCV002395209]|not provided [RCV000502954] Chr5:112827107 [GRCh38]
Chr5:112162804 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.5(APC):c.2155-?_3960+?del deletion Familial multiple polyposis syndrome [RCV000503014] Chr5:112173446..112175251 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3444_3447del (p.Glu1149fs) deletion Carcinoma of colon [RCV000503045]|Familial adenomatous polyposis 1 [RCV003535793] Chr5:112839038..112839041 [GRCh38]
Chr5:112174735..112174738 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.835-7T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002527170]|Familial adenomatous polyposis 1 [RCV003535789]|not provided [RCV000500835] Chr5:112815488 [GRCh38]
Chr5:112151185 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.893_894del (p.His298fs) microsatellite Carcinoma of colon [RCV000503133] Chr5:112815548..112815549 [GRCh38]
Chr5:112151245..112151246 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.458del (p.Lys153fs) deletion Carcinoma of colon [RCV000503185]|Familial adenomatous polyposis 1 [RCV002231168]|Familial adenomatous polyposis 1 [RCV003337291] Chr5:112775661 [GRCh38]
Chr5:112111358 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1744-2A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003766868]|not provided [RCV000508259] Chr5:112834949 [GRCh38]
Chr5:112170646 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1951dup (p.Asp651fs) duplication not provided [RCV000508335] Chr5:112835156..112835157 [GRCh38]
Chr5:112170853..112170854 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5431T>C (p.Ser1811Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535801]|not specified [RCV000508419] Chr5:112841025 [GRCh38]
Chr5:112176722 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs) deletion Carcinoma of colon [RCV000500710]|Familial adenomatous polyposis 1 [RCV003335402]|Hereditary cancer-predisposing syndrome [RCV000493587]|not provided [RCV000507509] Chr5:112838394..112838397 [GRCh38]
Chr5:112174091..112174094 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs) deletion Familial adenomatous polyposis 1 [RCV001857257]|not provided [RCV002251745]|not specified [RCV000508483] Chr5:112841875..112841876 [GRCh38]
Chr5:112177572..112177573 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4207A>G (p.Ser1403Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535800]|Hereditary cancer-predisposing syndrome [RCV000772036]|not provided [RCV001775833]|not specified [RCV000508542] Chr5:112839801 [GRCh38]
Chr5:112175498 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3666A>T (p.Ser1222=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231158]|Hereditary cancer-predisposing syndrome [RCV000493668] Chr5:112839260 [GRCh38]
Chr5:112174957 [GRCh37]
Chr5:5q22.2		 pathogenic|likely benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
NM_000038.6(APC):c.2504C>A (p.Ser835Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231131]|Hereditary cancer-predisposing syndrome [RCV000490909] Chr5:112838098 [GRCh38]
Chr5:112173795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6588A>C (p.Lys2196Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535769]|Hereditary cancer-predisposing syndrome [RCV000490939]|not provided [RCV001574534]|not specified [RCV000779722] Chr5:112842182 [GRCh38]
Chr5:112177879 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1610G>A (p.Ser537Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646265]|Familial adenomatous polyposis 1 [RCV003153664]|Hereditary cancer-predisposing syndrome [RCV000491020] Chr5:112827990 [GRCh38]
Chr5:112163687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2909G>C (p.Ser970Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491039] Chr5:112838503 [GRCh38]
Chr5:112174200 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2077A>G (p.Lys693Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651937]|Hereditary cancer-predisposing syndrome [RCV000491312] Chr5:112837671 [GRCh38]
Chr5:112173368 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3220A>G (p.Thr1074Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743753]|Hereditary cancer-predisposing syndrome [RCV000491326]|not provided [RCV003114615] Chr5:112838814 [GRCh38]
Chr5:112174511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2764C>T (p.Leu922Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003230267]|Familial adenomatous polyposis 1 [RCV003743758]|Hereditary cancer-predisposing syndrome [RCV000491333]|not provided [RCV001539766]|not specified [RCV000779717] Chr5:112838358 [GRCh38]
Chr5:112174055 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2853T>C (p.Tyr951=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231619]|Hereditary cancer-predisposing syndrome [RCV000491373] Chr5:112838447 [GRCh38]
Chr5:112174144 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8247A>T (p.Ser2749=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491436] Chr5:112843841 [GRCh38]
Chr5:112179538 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2185_2336del (p.Leu729fs) deletion Familial adenomatous polyposis 1 [RCV003335392]|Familial adenomatous polyposis 1 [RCV003743757]|Hereditary cancer-predisposing syndrome [RCV000491461] Chr5:112837778..112837929 [GRCh38]
Chr5:112173475..112173626 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5451A>G (p.Lys1817=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766758]|Hereditary cancer-predisposing syndrome [RCV000491497]|not specified [RCV002268130] Chr5:112841045 [GRCh38]
Chr5:112176742 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6559G>C (p.Gly2187Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231151]|Hereditary cancer-predisposing syndrome [RCV000491511] Chr5:112842153 [GRCh38]
Chr5:112177850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6905C>G (p.Ser2302Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491546] Chr5:112842499 [GRCh38]
Chr5:112178196 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.607C>T (p.Gln203Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335381]|Familial adenomatous polyposis 1 [RCV003743754]|Hereditary cancer-predisposing syndrome [RCV000491579] Chr5:112780865 [GRCh38]
Chr5:112116562 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1548G>A (p.Lys516=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337287]|Hereditary cancer-predisposing syndrome [RCV000491608] Chr5:112827247 [GRCh38]
Chr5:112162944 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000698172]|Familial adenomatous polyposis 1 [RCV003535779]|Hereditary cancer-predisposing syndrome [RCV000491662]|not provided [RCV002282173] Chr5:112842744 [GRCh38]
Chr5:112178441 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1958G>A (p.Arg653Lys) single nucleotide variant Carcinoma of colon [RCV001354779]|Familial adenomatous polyposis 1 [RCV003535776]|Hereditary cancer-predisposing syndrome [RCV000491686]|not provided [RCV000759416] Chr5:112835165 [GRCh38]
Chr5:112170862 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1886T>G (p.Leu629Ter) single nucleotide variant Carcinoma of colon [RCV000502700]|Familial adenomatous polyposis 1 [RCV003335399]|Hereditary cancer-predisposing syndrome [RCV000493755] Chr5:112835093 [GRCh38]
Chr5:112170790 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4010_4013dup (p.Gln1338fs) duplication not provided [RCV000493785] Chr5:112839603..112839604 [GRCh38]
Chr5:112175300..112175301 [GRCh37]
Chr5:5q22.2		 not provided
NM_000038.6(APC):c.6932G>C (p.Arg2311Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766760]|Hereditary cancer-predisposing syndrome [RCV000491812]|not provided [RCV003319360] Chr5:112842526 [GRCh38]
Chr5:112178223 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8248G>A (p.Glu2750Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491931]|not provided [RCV003318584] Chr5:112843842 [GRCh38]
Chr5:112179539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523433]|Hepatocellular carcinoma [RCV000677765]|Hereditary cancer-predisposing syndrome [RCV000491956]|not provided [RCV001775829]|not specified [RCV002465690] Chr5:112838121 [GRCh38]
Chr5:112173818 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2905_2906insC (p.Ser969fs) insertion Familial adenomatous polyposis 1 [RCV003766767]|Hereditary cancer-predisposing syndrome [RCV000494011] Chr5:112838499..112838500 [GRCh38]
Chr5:112174196..112174197 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1240del (p.Arg414fs) deletion Familial adenomatous polyposis 1 [RCV002524426]|Familial adenomatous polyposis 1 [RCV003337303]|Familial adenomatous polyposis 1 [RCV003743763]|not provided [RCV000505855] Chr5:112819272 [GRCh38]
Chr5:112154969 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.422+2T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002523995]|Familial adenomatous polyposis 1 [RCV003535785]|Hereditary cancer-predisposing syndrome [RCV000494112] Chr5:112767392 [GRCh38]
Chr5:112103089 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1333C>T (p.Gln445Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535797]|Hereditary cancer-predisposing syndrome [RCV000567238]|not provided [RCV000505931] Chr5:112821916 [GRCh38]
Chr5:112157613 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6850C>A (p.Pro2284Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000663031]|Familial adenomatous polyposis 1 [RCV003743767]|not specified [RCV000505983] Chr5:112842444 [GRCh38]
Chr5:112178141 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8196C>A (p.Asp2732Glu) single nucleotide variant not specified [RCV000506021] Chr5:112843790 [GRCh38]
Chr5:112179487 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4167dup (p.Val1390fs) duplication Hereditary cancer-predisposing syndrome [RCV000494254] Chr5:112839760..112839761 [GRCh38]
Chr5:112175457..112175458 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4474del (p.Ala1492fs) deletion Familial adenomatous polyposis 1 [RCV002523998]|Familial adenomatous polyposis 1 [RCV003651940]|Hereditary cancer-predisposing syndrome [RCV000494331] Chr5:112840068 [GRCh38]
Chr5:112175765 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7223A>G (p.Asn2408Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535803]|Hereditary cancer-predisposing syndrome [RCV002376932]|not specified [RCV000506126] Chr5:112842817 [GRCh38]
Chr5:112178514 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2434_2437del (p.Asp812fs) deletion Familial adenomatous polyposis 1 [RCV003337607] Chr5:112838026..112838029 [GRCh38]
Chr5:112173723..112173726 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4813G>A (p.Val1605Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV000558695]|Familial adenomatous polyposis 1 [RCV003743766]|Gastric adenocarcinoma and proximal polyposis of the stomach [RCV002289692]|Hereditary cancer-predisposing syndrome [RCV000580492]|not provided [RCV001591152]|not specified [RCV000506358] Chr5:112840407 [GRCh38]
Chr5:112176104 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6542_6545del (p.Ile2181fs) deletion Familial multiple polyposis syndrome [RCV000825578]|not provided [RCV000506387] Chr5:112842133..112842136 [GRCh38]
Chr5:112177830..112177833 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.-18-13T>G single nucleotide variant not provided [RCV001810986] Chr5:112754860 [GRCh38]
Chr5:112090557 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.3386del (p.Leu1129fs) deletion Hereditary cancer-predisposing syndrome [RCV000490829] Chr5:112838978 [GRCh38]
Chr5:112174675 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1251T>A (p.Cys417Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000490833] Chr5:112819283 [GRCh38]
Chr5:112154980 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1743G>C (p.Lys581Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651936]|Hereditary cancer-predisposing syndrome [RCV000490872]|not provided [RCV001775830] Chr5:112828972 [GRCh38]
Chr5:112164669 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.478G>A (p.Ala160Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231134]|Hereditary cancer-predisposing syndrome [RCV000490878]|not provided [RCV001550818] Chr5:112775684 [GRCh38]
Chr5:112111381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1657del (p.Trp553fs) deletion Carcinoma of colon [RCV000503404]|Familial adenomatous polyposis 1 [RCV003335390]|Hereditary cancer-predisposing syndrome [RCV000490917] Chr5:112828885 [GRCh38]
Chr5:112164582 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2129del (p.Leu710fs) deletion Hereditary cancer-predisposing syndrome [RCV000490922] Chr5:112837723 [GRCh38]
Chr5:112173420 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4890del (p.Ser1631fs) deletion Familial adenomatous polyposis 1 [RCV003766759]|Hereditary cancer-predisposing syndrome [RCV000490943] Chr5:112840483 [GRCh38]
Chr5:112176180 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001310097]|Gastric cancer [RCV003159591]|Hereditary cancer-predisposing syndrome [RCV000490964] Chr5:112840143 [GRCh38]
Chr5:112175840 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.723dup (p.Ala242fs) duplication Hereditary cancer-predisposing syndrome [RCV000490966] Chr5:112792521..112792522 [GRCh38]
Chr5:112128218..112128219 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.729+4A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003743752]|Hereditary cancer-predisposing syndrome [RCV000490969] Chr5:112792533 [GRCh38]
Chr5:112128230 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1485dup (p.Thr496fs) duplication Familial adenomatous polyposis 1 [RCV002523994]|Familial adenomatous polyposis 1 [RCV003651939]|Hereditary cancer-predisposing syndrome [RCV000494466] Chr5:112827182..112827183 [GRCh38]
Chr5:112162879..112162880 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2008_2014delinsTAGTTTTGTA (p.Lys670_His672delinsTer) indel Familial adenomatous polyposis 1 [RCV003743764]|not provided [RCV000506562] Chr5:112837602..112837608 [GRCh38]
Chr5:112173299..112173305 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5392A>C (p.Asn1798His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766870]|Hereditary cancer-predisposing syndrome [RCV002350123]|not specified [RCV000506574] Chr5:112840986 [GRCh38]
Chr5:112176683 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+27G>A single nucleotide variant not provided [RCV001535342]|not specified [RCV000506653] Chr5:112819371 [GRCh38]
Chr5:112155068 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.532-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002527346]|Familial adenomatous polyposis 1 [RCV003335440]|Hereditary cancer-predisposing syndrome [RCV002350126]|not specified [RCV000506699] Chr5:112780789 [GRCh38]
Chr5:112116486 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4643_4645delinsT (p.Asn1548fs) indel Familial adenomatous polyposis 1 [RCV003335393]|Hereditary cancer-predisposing syndrome [RCV000490984] Chr5:112840237..112840239 [GRCh38]
Chr5:112175934..112175936 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1548+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003535783]|Hereditary cancer-predisposing syndrome [RCV000491013] Chr5:112827248 [GRCh38]
Chr5:112162945 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1464_1467del (p.Thr489fs) deletion Hereditary cancer-predisposing syndrome [RCV000491023] Chr5:112827161..112827164 [GRCh38]
Chr5:112162858..112162861 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1958+1G>A single nucleotide variant Carcinoma of colon [RCV000503747]|Familial adenomatous polyposis 1 [RCV002523963]|Familial adenomatous polyposis 1 [RCV003535774]|Hereditary cancer-predisposing syndrome [RCV000491035]|not provided [RCV001540866] Chr5:112835166 [GRCh38]
Chr5:112170863 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2496_2502del (p.Ser833fs) deletion Hereditary cancer-predisposing syndrome [RCV000491052] Chr5:112838088..112838094 [GRCh38]
Chr5:112173785..112173791 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4463del (p.Leu1488fs) deletion Familial adenomatous polyposis 1 [RCV003743755]|Hereditary cancer-predisposing syndrome [RCV000491066] Chr5:112840055 [GRCh38]
Chr5:112175752 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1548+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491069]|not provided [RCV000596811] Chr5:112827248 [GRCh38]
Chr5:112162945 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5822dup (p.Asp1942fs) duplication Hereditary cancer-predisposing syndrome [RCV000491079] Chr5:112841414..112841415 [GRCh38]
Chr5:112177111..112177112 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4490C>T (p.Pro1497Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491090] Chr5:112840084 [GRCh38]
Chr5:112175781 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.891_894del (p.His298fs) microsatellite Hereditary cancer-predisposing syndrome [RCV000491093] Chr5:112815548..112815551 [GRCh38]
Chr5:112151245..112151248 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3347del (p.Gly1116fs) deletion Hereditary cancer-predisposing syndrome [RCV000491110] Chr5:112838939 [GRCh38]
Chr5:112174636 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1219del (p.Leu407fs) deletion Familial adenomatous polyposis 1 [RCV003335382]|Hereditary cancer-predisposing syndrome [RCV000491122] Chr5:112819250 [GRCh38]
Chr5:112154947 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5309A>G (p.Lys1770Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491123] Chr5:112840903 [GRCh38]
Chr5:112176600 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3183dup (p.Gln1062fs) duplication Familial adenomatous polyposis 1 [RCV003337288]|Hereditary cancer-predisposing syndrome [RCV000491132] Chr5:112838773..112838774 [GRCh38]
Chr5:112174470..112174471 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3994dup (p.Thr1332fs) duplication Familial adenomatous polyposis 1 [RCV003335377]|Hereditary cancer-predisposing syndrome [RCV000491155] Chr5:112839586..112839587 [GRCh38]
Chr5:112175283..112175284 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3665C>A (p.Ser1222Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335394]|Hereditary cancer-predisposing syndrome [RCV000491161] Chr5:112839259 [GRCh38]
Chr5:112174956 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1957A>G (p.Arg653Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523967]|Familial adenomatous polyposis 1 [RCV003535778]|Hereditary cancer-predisposing syndrome [RCV000491162]|not provided [RCV001357824] Chr5:112835164 [GRCh38]
Chr5:112170861 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.93del (p.Asn32fs) deletion Hereditary cancer-predisposing syndrome [RCV000491181] Chr5:112754982 [GRCh38]
Chr5:112090679 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7303C>T (p.Pro2435Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527056]|Hereditary cancer-predisposing syndrome [RCV000491189] Chr5:112842897 [GRCh38]
Chr5:112178594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8047del (p.Ile2683fs) deletion Hereditary cancer-predisposing syndrome [RCV000491218] Chr5:112843641 [GRCh38]
Chr5:112179338 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3757del (p.Ser1253fs) deletion Familial adenomatous polyposis 1 [RCV003335386]|Familial multiple polyposis syndrome [RCV003235249]|Hereditary cancer-predisposing syndrome [RCV000491231] Chr5:112839350 [GRCh38]
Chr5:112175047 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7626T>C (p.Asn2542=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527053]|Hereditary cancer-predisposing syndrome [RCV000491247] Chr5:112843220 [GRCh38]
Chr5:112178917 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5001T>A (p.Asn1667Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766766]|Hereditary cancer-predisposing syndrome [RCV000494666] Chr5:112840595 [GRCh38]
Chr5:112176292 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3079T>G (p.Tyr1027Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535799]|Hereditary cancer-predisposing syndrome [RCV002319511]|not specified [RCV000506782] Chr5:112838673 [GRCh38]
Chr5:112174370 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1925T>C (p.Val642Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646398]|Familial adenomatous polyposis 1 [RCV003535798]|Hereditary cancer-predisposing syndrome [RCV001188846]|not specified [RCV000506828] Chr5:112835132 [GRCh38]
Chr5:112170829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8378G>A (p.Ser2793Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766871]|Hereditary cancer-predisposing syndrome [RCV000573141]|not provided [RCV000679091]|not specified [RCV001821420] Chr5:112843972 [GRCh38]
Chr5:112179669 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_000038.6(APC):c.4031C>G (p.Ser1344Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335387]|Familial adenomatous polyposis 1 [RCV003535777]|Hereditary cancer-predisposing syndrome [RCV000491265] Chr5:112839625 [GRCh38]
Chr5:112175322 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.762dup (p.His255fs) duplication Hereditary cancer-predisposing syndrome [RCV000491284] Chr5:112801310..112801311 [GRCh38]
Chr5:112137007..112137008 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4057G>T (p.Glu1353Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335385]|Hereditary cancer-predisposing syndrome [RCV000491310] Chr5:112839651 [GRCh38]
Chr5:112175348 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3083G>A (p.Ser1028Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523975]|Hereditary cancer-predisposing syndrome [RCV000491338] Chr5:112838677 [GRCh38]
Chr5:112174374 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.2426del (p.Asn809fs) deletion Hereditary cancer-predisposing syndrome [RCV000491401] Chr5:112838019 [GRCh38]
Chr5:112173716 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.258dup (p.Leu87fs) duplication Familial adenomatous polyposis 1 [RCV003335379]|Hereditary cancer-predisposing syndrome [RCV000491405] Chr5:112767222..112767223 [GRCh38]
Chr5:112102919..112102920 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1968_1969del (p.Asn659fs) deletion Familial adenomatous polyposis 1 [RCV002523436]|Familial adenomatous polyposis 1 [RCV003535782]|Hereditary cancer-predisposing syndrome [RCV000491408] Chr5:112837562..112837563 [GRCh38]
Chr5:112173259..112173260 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4054del (p.Val1352fs) deletion Hereditary cancer-predisposing syndrome [RCV000491417] Chr5:112839648 [GRCh38]
Chr5:112175345 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3463_3467del (p.Glu1155fs) deletion Familial adenomatous polyposis 1 [RCV003535781]|Hereditary cancer-predisposing syndrome [RCV000491435] Chr5:112839056..112839060 [GRCh38]
Chr5:112174753..112174757 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.497_499delinsTT (p.Thr166fs) indel Familial adenomatous polyposis 1 [RCV003535780]|Hereditary cancer-predisposing syndrome [RCV000491467] Chr5:112775703..112775705 [GRCh38]
Chr5:112111400..112111402 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.323G>A (p.Gly108Glu) single nucleotide variant Colorectal cancer, susceptibility to [RCV000491472]|Familial adenomatous polyposis 1 [RCV002231614]|Familial adenomatous polyposis 1 [RCV003483636]|Hereditary cancer-predisposing syndrome [RCV000775971] Chr5:112767291 [GRCh38]
Chr5:112102988 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance|not provided
NM_000038.6(APC):c.531+3A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002526067]|Familial adenomatous polyposis 1 [RCV003535771]|Hereditary cancer-predisposing syndrome [RCV000491509] Chr5:112775740 [GRCh38]
Chr5:112111437 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.5520del (p.Phe1840fs) deletion Familial adenomatous polyposis 1 [RCV002231133]|Familial adenomatous polyposis 1 [RCV003766757]|Hereditary cancer-predisposing syndrome [RCV000491527] Chr5:112841111 [GRCh38]
Chr5:112176808 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4474G>A (p.Ala1492Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651938]|Hereditary cancer-predisposing syndrome [RCV000491542]|not provided [RCV001764472] Chr5:112840068 [GRCh38]
Chr5:112175765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3623C>T (p.Thr1208Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003464085]|Familial adenomatous polyposis 1 [RCV003743765]|Hereditary cancer-predisposing syndrome [RCV000581133]|not specified [RCV000507060] Chr5:112839217 [GRCh38]
Chr5:112174914 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs) duplication Familial adenomatous polyposis 1 [RCV003337305]|Hereditary cancer-predisposing syndrome [RCV002395217]|not specified [RCV000507134] Chr5:112843060..112843061 [GRCh38]
Chr5:112178757..112178758 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.6496C>T (p.Arg2166Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527337]|Familial adenomatous polyposis 1 [RCV003535802]|not provided [RCV000507179] Chr5:112842090 [GRCh38]
Chr5:112177787 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3002del (p.Pro1001fs) deletion Familial adenomatous polyposis 1 [RCV003335388]|Hereditary cancer-predisposing syndrome [RCV000491570] Chr5:112838594 [GRCh38]
Chr5:112174291 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.625G>A (p.Asp209Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002523974]|Familial adenomatous polyposis 1 [RCV003535784]|Hereditary cancer-predisposing syndrome [RCV000491591]|not provided [RCV001284246] Chr5:112780883 [GRCh38]
Chr5:112116580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8256_8257insTGGGGAAATTTT (p.Asn2752_Glu2753insTrpGlyAsnPhe) insertion Familial adenomatous polyposis 1 [RCV003535772]|Hereditary cancer-predisposing syndrome [RCV000491593] Chr5:112843849..112843850 [GRCh38]
Chr5:112179546..112179547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2848C>T (p.Pro950Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651935]|Hereditary cancer-predisposing syndrome [RCV000491617] Chr5:112838442 [GRCh38]
Chr5:112174139 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1178C>G (p.Ser393Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527051]|Familial adenomatous polyposis 1 [RCV003335378]|Familial multiple polyposis syndrome [RCV003330724]|Hereditary cancer-predisposing syndrome [RCV000491623] Chr5:112819210 [GRCh38]
Chr5:112154907 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6353C>T (p.Ala2118Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491629] Chr5:112841947 [GRCh38]
Chr5:112177644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6389C>G (p.Ser2130Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743756]|Hereditary cancer-predisposing syndrome [RCV000491649] Chr5:112841983 [GRCh38]
Chr5:112177680 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4029T>A (p.Ser1343=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491659] Chr5:112839623 [GRCh38]
Chr5:112175320 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7933T>A (p.Tyr2645Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491668] Chr5:112843527 [GRCh38]
Chr5:112179224 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.104del (p.Thr35fs) deletion Familial adenomatous polyposis 1 [RCV003335389]|Hereditary cancer-predisposing syndrome [RCV000491691]|not provided [RCV001800710] Chr5:112754994 [GRCh38]
Chr5:112090691 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1100_1101del (p.Ser367fs) microsatellite Familial adenomatous polyposis 1 [RCV000000870]|Familial adenomatous polyposis 1 [RCV003535773]|Hereditary cancer-predisposing syndrome [RCV000491709]|not provided [RCV001269572] Chr5:112819130..112819131 [GRCh38]
Chr5:112154827..112154828 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1617delinsTGT (p.Leu540fs) indel Hereditary cancer-predisposing syndrome [RCV000491714] Chr5:112827997 [GRCh38]
Chr5:112163694 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3571C>T (p.Gln1191Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527052]|Familial adenomatous polyposis 1 [RCV003535770]|Hereditary cancer-predisposing syndrome [RCV000491728]|not provided [RCV000584042] Chr5:112839165 [GRCh38]
Chr5:112174862 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7771C>G (p.His2591Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651933]|Hereditary cancer-predisposing syndrome [RCV000491729] Chr5:112843365 [GRCh38]
Chr5:112179062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2380dup (p.Ser794fs) duplication Hereditary cancer-predisposing syndrome [RCV000491738] Chr5:112837971..112837972 [GRCh38]
Chr5:112173668..112173669 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1918C>T (p.Arg640Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651934]|Hereditary cancer-predisposing syndrome [RCV000491750] Chr5:112835125 [GRCh38]
Chr5:112170822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1071C>T (p.Ile357=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491757] Chr5:112819103 [GRCh38]
Chr5:112154800 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3300dup (p.Pro1101fs) duplication Hereditary cancer-predisposing syndrome [RCV000491784] Chr5:112838893..112838894 [GRCh38]
Chr5:112174590..112174591 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2701C>T (p.Gln901Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335383]|Hereditary cancer-predisposing syndrome [RCV000491829] Chr5:112838295 [GRCh38]
Chr5:112173992 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-31T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002231185]|not provided [RCV001712464]|not specified [RCV000507288] Chr5:112707687 [GRCh38]
Chr5:112043384 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1697T>A (p.Val566Asp) single nucleotide variant not specified [RCV000507347] Chr5:112828926 [GRCh38]
Chr5:112164623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3749_3750del (p.Lys1250fs) deletion Hereditary cancer-predisposing syndrome [RCV000491849] Chr5:112839342..112839343 [GRCh38]
Chr5:112175039..112175040 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1437G>A (p.Leu479=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003633510]|Hereditary cancer-predisposing syndrome [RCV000491857] Chr5:112827136 [GRCh38]
Chr5:112162833 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4737dup (p.Ile1580fs) duplication Hereditary cancer-predisposing syndrome [RCV000491864] Chr5:112840329..112840330 [GRCh38]
Chr5:112176026..112176027 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3734dup (p.Ala1246fs) duplication Hereditary cancer-predisposing syndrome [RCV000491893] Chr5:112839324..112839325 [GRCh38]
Chr5:112175021..112175022 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4666dup (p.Thr1556fs) duplication Carcinoma of colon [RCV000500725]|Familial adenomatous polyposis 1 [RCV000656377]|Familial adenomatous polyposis 1 [RCV002231136]|Hereditary cancer-predisposing syndrome [RCV000491894]|not provided [RCV000583680] Chr5:112840254..112840255 [GRCh38]
Chr5:112175951..112175952 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2991_2996del (p.Tyr997_Gln999delinsTer) deletion Hereditary cancer-predisposing syndrome [RCV000491900] Chr5:112838584..112838589 [GRCh38]
Chr5:112174281..112174286 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1312+2T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491912] Chr5:112819346 [GRCh38]
Chr5:112155043 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3077A>C (p.Asn1026Thr) single nucleotide variant Carcinoma of colon [RCV001353697]|Familial adenomatous polyposis 1 [RCV003148754]|Hereditary cancer-predisposing syndrome [RCV000491915]|not specified [RCV000502196] Chr5:112838671 [GRCh38]
Chr5:112174368 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.5841T>G (p.Thr1947=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535775]|Hereditary cancer-predisposing syndrome [RCV000491920] Chr5:112841435 [GRCh38]
Chr5:112177132 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3184_3187del (p.Gln1062fs) deletion Familial adenomatous polyposis 1 [RCV003335380]|Familial multiple polyposis syndrome [RCV001192948]|Hereditary cancer-predisposing syndrome [RCV000491925] Chr5:112838775..112838778 [GRCh38]
Chr5:112174472..112174475 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4682dup (p.Asp1562fs) duplication Hereditary cancer-predisposing syndrome [RCV000491927] Chr5:112840272..112840273 [GRCh38]
Chr5:112175969..112175970 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.872T>G (p.Val291Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000491944] Chr5:112815532 [GRCh38]
Chr5:112151229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1941T>C (p.Ala647=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003766869]|Hereditary cancer-predisposing syndrome [RCV002413386]|not specified [RCV000507418] Chr5:112835148 [GRCh38]
Chr5:112170845 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6053del (p.Pro2018fs) deletion Familial adenomatous polyposis 1 [RCV002523996]|Familial adenomatous polyposis 1 [RCV003535786]|Hereditary cancer-predisposing syndrome [RCV000492870] Chr5:112841644 [GRCh38]
Chr5:112177341 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2036dup (p.Asn679fs) duplication Hereditary cancer-predisposing syndrome [RCV000492947] Chr5:112837628..112837629 [GRCh38]
Chr5:112173325..112173326 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4260dup (p.Ser1421fs) duplication not provided [RCV000507673] Chr5:112839850..112839851 [GRCh38]
Chr5:112175547..112175548 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3113C>T (p.Ser1038Phe) single nucleotide variant not specified [RCV000507702] Chr5:112838707 [GRCh38]
Chr5:112174404 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+1G>A single nucleotide variant Carcinoma of colon [RCV001356878]|Familial adenomatous polyposis 1 [RCV003535804]|Hereditary cancer-predisposing syndrome [RCV002413392]|not specified [RCV000507726] Chr5:112801384 [GRCh38]
Chr5:112137081 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1937T>G (p.Ile646Arg) single nucleotide variant not specified [RCV000507769] Chr5:112835144 [GRCh38]
Chr5:112170841 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4319del (p.Pro1440fs) deletion Familial adenomatous polyposis 1 [RCV003743759]|Hereditary cancer-predisposing syndrome [RCV000493028]|not provided [RCV000657482] Chr5:112839912 [GRCh38]
Chr5:112175609 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1541C>T (p.Ala514Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000493070] Chr5:112827240 [GRCh38]
Chr5:112162937 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=) indel Desmoid disease, hereditary [RCV002506234]|Familial adenomatous polyposis 1 [RCV003316652]|not specified [RCV000507829] Chr5:112840859..112840862 [GRCh38]
Chr5:112176556..112176559 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.3425A>G (p.Asn1142Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527335]|Hereditary cancer-predisposing syndrome [RCV000575101]|not provided [RCV003314601]|not specified [RCV000507835] Chr5:112839019 [GRCh38]
Chr5:112174716 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3535T>G (p.Tyr1179Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476200]|not specified [RCV000507909] Chr5:112839129 [GRCh38]
Chr5:112174826 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7055G>A (p.Ser2352Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002524428]|Hereditary cancer-predisposing syndrome [RCV003159638]|not specified [RCV000507925] Chr5:112842649 [GRCh38]
Chr5:112178346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112707312)_(112707902_?)del deletion Familial adenomatous polyposis 1 [RCV000493148]|Familial adenomatous polyposis 1 [RCV001865533] Chr5:112707312..112707902 [GRCh38]
Chr5:112043009..112043599 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1620dup (p.Gln541fs) duplication Familial adenomatous polyposis 1 [RCV003337290]|Hereditary cancer-predisposing syndrome [RCV002404292]|not provided [RCV000493205] Chr5:112827999..112828000 [GRCh38]
Chr5:112163696..112163697 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5803del (p.Gln1935fs) deletion Familial adenomatous polyposis 1 [RCV003337289]|Hereditary cancer-predisposing syndrome [RCV001024554]|not provided [RCV000493256] Chr5:112841394 [GRCh38]
Chr5:112177091 [GRCh37]
Chr5:5q22.2		 pathogenic|not provided
NM_000038.6(APC):c.6510del (p.Glu2172fs) deletion Familial adenomatous polyposis 1 [RCV003337304]|not provided [RCV000520383]|not specified [RCV000508107] Chr5:112842104 [GRCh38]
Chr5:112177801 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.1626_1626+6del deletion not provided [RCV000508181] Chr5:112828005..112828011 [GRCh38]
Chr5:112163702..112163708 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1270C>T (p.Gln424Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336150]|not provided [RCV000985283] Chr5:112819302 [GRCh38]
Chr5:112154999 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3357T>C (p.His1119=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537169]|Hereditary cancer-predisposing syndrome [RCV000568701] Chr5:112838951 [GRCh38]
Chr5:112174648 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3730C>G (p.Gln1244Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742692] Chr5:112839324 [GRCh38]
Chr5:112175021 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7148G>T (p.Gly2383Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459338]|Hereditary cancer-predisposing syndrome [RCV000568737] Chr5:112842742 [GRCh38]
Chr5:112178439 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1318G>C (p.Ala440Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537170]|Hereditary cancer-predisposing syndrome [RCV000564024]|not specified [RCV002248786] Chr5:112821901 [GRCh38]
Chr5:112157598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7918T>C (p.Ser2640Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652030]|Hereditary cancer-predisposing syndrome [RCV000564241] Chr5:112843512 [GRCh38]
Chr5:112179209 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2140A>G (p.Lys714Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000564483] Chr5:112837734 [GRCh38]
Chr5:112173431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3629A>T (p.His1210Leu) single nucleotide variant Attenuated familial adenomatous polyposis [RCV003483665]|Familial adenomatous polyposis 1 [RCV003651970]|Hereditary cancer-predisposing syndrome [RCV000582171] Chr5:112839223 [GRCh38]
Chr5:112174920 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance|not provided
NM_000038.6(APC):c.8086G>T (p.Asp2696Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742809]|Hereditary cancer-predisposing syndrome [RCV000773150] Chr5:112843680 [GRCh38]
Chr5:112179377 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1282G>A (p.Glu428Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767008] Chr5:112819314 [GRCh38]
Chr5:112155011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2758A>G (p.Asn920Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533541]|Familial adenomatous polyposis 1 [RCV003534670] Chr5:112838352 [GRCh38]
Chr5:112174049 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2587T>A (p.Tyr863Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742613] Chr5:112838181 [GRCh38]
Chr5:112173878 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.771T>C (p.Ala257=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537146]|Hereditary cancer-predisposing syndrome [RCV000568860]|not specified [RCV001193495] Chr5:112801320 [GRCh38]
Chr5:112137017 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4619_4620del (p.Glu1540fs) microsatellite Familial adenomatous polyposis 1 [RCV000576849] Chr5:112840211..112840212 [GRCh38]
Chr5:112175908..112175909 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6851C>T (p.Pro2284Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537179]|Hereditary cancer-predisposing syndrome [RCV000569441] Chr5:112842445 [GRCh38]
Chr5:112178142 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1102G>T (p.Val368Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743770]|Hereditary cancer-predisposing syndrome [RCV003352920]|not provided [RCV003228948] Chr5:112819134 [GRCh38]
Chr5:112154831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5995C>G (p.Pro1999Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742750]|Hereditary cancer-predisposing syndrome [RCV002358546] Chr5:112841589 [GRCh38]
Chr5:112177286 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2837del (p.Thr946fs) deletion Familial adenomatous polyposis 1 [RCV003742625] Chr5:112838431 [GRCh38]
Chr5:112174128 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3377G>T (p.Ser1126Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528086]|Familial adenomatous polyposis 1 [RCV003744559]|Hereditary cancer-predisposing syndrome [RCV000572476] Chr5:112838971 [GRCh38]
Chr5:112174668 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1570G>A (p.Gly524Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572497] Chr5:112827950 [GRCh38]
Chr5:112163647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3097G>T (p.Asp1033Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652019]|Hereditary cancer-predisposing syndrome [RCV000572578] Chr5:112838691 [GRCh38]
Chr5:112174388 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112837547)_(112844132_?)del deletion Familial adenomatous polyposis 1 [RCV000541778] Chr5:112837547..112844132 [GRCh38]
Chr5:112173244..112179829 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1329_1331del (p.Glu443_His444delinsAsp) deletion Hereditary cancer-predisposing syndrome [RCV000574972] Chr5:112821911..112821913 [GRCh38]
Chr5:112157608..112157610 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3140A>G (p.Glu1047Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528492]|Familial adenomatous polyposis 1 [RCV003742671]|Hereditary cancer-predisposing syndrome [RCV001178555] Chr5:112838734 [GRCh38]
Chr5:112174431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1909G>A (p.Gly637Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537206]|Hereditary cancer-predisposing syndrome [RCV000569755] Chr5:112835116 [GRCh38]
Chr5:112170813 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.4465T>C (p.Leu1489=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537137]|Hereditary cancer-predisposing syndrome [RCV000572591] Chr5:112840059 [GRCh38]
Chr5:112175756 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3193C>A (p.Gln1065Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742675]|Hereditary cancer-predisposing syndrome [RCV000777269]|not provided [RCV003333995] Chr5:112838787 [GRCh38]
Chr5:112174484 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1538_1539dup (p.Ala514Ter) duplication Familial adenomatous polyposis 1 [RCV003335460]|Familial adenomatous polyposis 1 [RCV003743774] Chr5:112827236..112827237 [GRCh38]
Chr5:112162933..112162934 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2840G>A (p.Cys947Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767141]|Hereditary cancer-predisposing syndrome [RCV000575209] Chr5:112838434 [GRCh38]
Chr5:112174131 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5421C>T (p.Asp1807=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537214]|Hereditary cancer-predisposing syndrome [RCV000575252] Chr5:112841015 [GRCh38]
Chr5:112176712 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4778del (p.Lys1593fs) deletion Familial adenomatous polyposis 1 [RCV003148798]|Familial adenomatous polyposis 1 [RCV003337319]|Hereditary cancer-predisposing syndrome [RCV000575274]|not provided [RCV000657448] Chr5:112840367 [GRCh38]
Chr5:112176064 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7171A>G (p.Ile2391Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742779]|Hereditary cancer-predisposing syndrome [RCV002377120] Chr5:112842765 [GRCh38]
Chr5:112178462 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5267C>T (p.Ser1756Phe) single nucleotide variant Carcinoma of colon [RCV000677790]|Familial adenomatous polyposis 1 [RCV002232115]|Familial adenomatous polyposis 1 [RCV003465214]|Hereditary cancer-predisposing syndrome [RCV000569928]|not provided [RCV001555805] Chr5:112840861 [GRCh38]
Chr5:112176558 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.421_422del (p.Arg141fs) microsatellite Familial adenomatous polyposis 1 [RCV002231978]|Familial adenomatous polyposis 1 [RCV003742704]|Hereditary cancer-predisposing syndrome [RCV001022064]|not provided [RCV000657261] Chr5:112767385..112767386 [GRCh38]
Chr5:112103082..112103083 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30467A>G single nucleotide variant APC-related condition [RCV003900203]|Familial adenomatous polyposis 1 [RCV003651960]|not provided [RCV002263786]|not specified [RCV002268156] Chr5:112707477 [GRCh38]
Chr5:112043174 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5827_5828insAA (p.Arg1943fs) insertion Familial adenomatous polyposis 1 [RCV003742747] Chr5:112841420..112841421 [GRCh38]
Chr5:112177117..112177118 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2357G>A (p.Arg786His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708959]|Familial adenomatous polyposis 1 [RCV003652006]|Hereditary cancer-predisposing syndrome [RCV000575303] Chr5:112837951 [GRCh38]
Chr5:112173648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1246_1249del (p.Tyr416fs) deletion Hereditary cancer-predisposing syndrome [RCV000575347] Chr5:112819276..112819279 [GRCh38]
Chr5:112154973..112154976 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2372A>G (p.His791Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459376]|Hereditary cancer-predisposing syndrome [RCV000575348] Chr5:112837966 [GRCh38]
Chr5:112173663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2408C>G (p.Thr803Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528067]|Hereditary cancer-predisposing syndrome [RCV000575350]|not provided [RCV001811078] Chr5:112838002 [GRCh38]
Chr5:112173699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8481A>G (p.Gly2827=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003105968]|Hereditary cancer-predisposing syndrome [RCV000575402] Chr5:112844075 [GRCh38]
Chr5:112179772 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7164C>T (p.Ala2388=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744563]|Hereditary cancer-predisposing syndrome [RCV000575438] Chr5:112842758 [GRCh38]
Chr5:112178455 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.365G>T (p.Gly122Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767137]|Hereditary cancer-predisposing syndrome [RCV000575451]|not provided [RCV001815415] Chr5:112767333 [GRCh38]
Chr5:112103030 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6132C>T (p.Ser2044=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653232]|Hereditary cancer-predisposing syndrome [RCV002358741]|not specified [RCV000601619] Chr5:112841726 [GRCh38]
Chr5:112177423 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1606G>T (p.Glu536Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570058] Chr5:112827986 [GRCh38]
Chr5:112163683 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30593T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537061] Chr5:112707351 [GRCh38]
Chr5:112043048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3898A>G (p.Asn1300Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767140]|Hereditary cancer-predisposing syndrome [RCV000570198] Chr5:112839492 [GRCh38]
Chr5:112175189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3314G>C (p.Arg1105Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537195]|Hereditary cancer-predisposing syndrome [RCV000572965]|not provided [RCV003238781] Chr5:112838908 [GRCh38]
Chr5:112174605 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4489C>G (p.Pro1497Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652039]|Hereditary cancer-predisposing syndrome [RCV000575527] Chr5:112840083 [GRCh38]
Chr5:112175780 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8419A>G (p.Thr2807Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528062]|Hereditary cancer-predisposing syndrome [RCV000575602]|not provided [RCV000679092] Chr5:112844013 [GRCh38]
Chr5:112179710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4253T>G (p.Ile1418Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476338]|Hereditary cancer-predisposing syndrome [RCV000575612] Chr5:112839847 [GRCh38]
Chr5:112175544 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4067C>G (p.Ser1356Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335524]|Hereditary cancer-predisposing syndrome [RCV000575615]|not provided [RCV001775902] Chr5:112839661 [GRCh38]
Chr5:112175358 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.67C>G (p.Leu23Val) single nucleotide variant APC-related condition [RCV003409850]|Familial adenomatous polyposis 1 [RCV002529002]|Familial adenomatous polyposis 1 [RCV003537197]|Hereditary cancer-predisposing syndrome [RCV000575621]|not provided [RCV001797110] Chr5:112754957 [GRCh38]
Chr5:112090654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6658A>C (p.Asn2220His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575640] Chr5:112842252 [GRCh38]
Chr5:112177949 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4901C>T (p.Pro1634Leu) single nucleotide variant APC-related condition [RCV003409840]|Familial adenomatous polyposis 1 [RCV002530260]|Familial adenomatous polyposis 1 [RCV003651988]|Hereditary cancer-predisposing syndrome [RCV000565169]|not specified [RCV001805192] Chr5:112840495 [GRCh38]
Chr5:112176192 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151805]|Familial adenomatous polyposis 1 [RCV002232035]|Hereditary cancer-predisposing syndrome [RCV000566475]|not provided [RCV002298659] Chr5:112842481 [GRCh38]
Chr5:112178178 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3281G>T (p.Gly1094Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742676]|Hereditary cancer-predisposing syndrome [RCV000771467]|not provided [RCV002461310] Chr5:112838875 [GRCh38]
Chr5:112174572 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8492C>T (p.Pro2831Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744539]|Familial multiple polyposis syndrome [RCV000659278]|Hereditary cancer-predisposing syndrome [RCV000570304] Chr5:112844086 [GRCh38]
Chr5:112179783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2376G>A (p.Lys792=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767152]|Hereditary cancer-predisposing syndrome [RCV000570306] Chr5:112837970 [GRCh38]
Chr5:112173667 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1433del (p.Leu478fs) deletion Familial adenomatous polyposis 1 [RCV001853813]|Familial adenomatous polyposis 1 [RCV003767237]|Hereditary cancer-predisposing syndrome [RCV000570400] Chr5:112827131 [GRCh38]
Chr5:112162828 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4216C>G (p.Gln1406Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744562]|Hereditary cancer-predisposing syndrome [RCV000570412] Chr5:112839810 [GRCh38]
Chr5:112175507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5151A>G (p.Lys1717=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767155]|Hereditary cancer-predisposing syndrome [RCV000573127] Chr5:112840745 [GRCh38]
Chr5:112176442 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.175G>A (p.Ala59Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459410]|Familial adenomatous polyposis 1 [RCV003744576]|Hereditary cancer-predisposing syndrome [RCV000573197] Chr5:112766365 [GRCh38]
Chr5:112102062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2520C>T (p.Ser840=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652046]|Hereditary cancer-predisposing syndrome [RCV000575743]|not provided [RCV001764693] Chr5:112838114 [GRCh38]
Chr5:112173811 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3614G>A (p.Ser1205Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651990]|Hereditary cancer-predisposing syndrome [RCV000575757] Chr5:112839208 [GRCh38]
Chr5:112174905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7205A>C (p.Asn2402Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575795] Chr5:112842799 [GRCh38]
Chr5:112178496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1219C>G (p.Leu407Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537167]|Hereditary cancer-predisposing syndrome [RCV000575850] Chr5:112819251 [GRCh38]
Chr5:112154948 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6539A>C (p.Lys2180Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537209]|Hereditary cancer-predisposing syndrome [RCV000575863] Chr5:112842133 [GRCh38]
Chr5:112177830 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1757A>G (p.Lys586Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232182]|Hereditary cancer-predisposing syndrome [RCV000575868] Chr5:112834964 [GRCh38]
Chr5:112170661 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3122A>C (p.Gln1041Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575887] Chr5:112838716 [GRCh38]
Chr5:112174413 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7264A>T (p.Thr2422Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232153]|Familial adenomatous polyposis 1 [RCV003471900]|Hereditary cancer-predisposing syndrome [RCV000575939]|not provided [RCV001755953]|not specified [RCV000582754] Chr5:112842858 [GRCh38]
Chr5:112178555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7932_7935del (p.Tyr2645fs) deletion Familial adenomatous polyposis 1 [RCV003337316]|Hereditary cancer-predisposing syndrome [RCV000575964] Chr5:112843524..112843527 [GRCh38]
Chr5:112179221..112179224 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7475C>T (p.Ser2492Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300877] Chr5:112843069 [GRCh38]
Chr5:112178766 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6040G>A (p.Val2014Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528768]|Familial adenomatous polyposis 1 [RCV003538411]|Hereditary cancer-predisposing syndrome [RCV001024834]|not specified [RCV000601902] Chr5:112841634 [GRCh38]
Chr5:112177331 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1594C>G (p.Gln532Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767258]|Hereditary cancer-predisposing syndrome [RCV000579428] Chr5:112827974 [GRCh38]
Chr5:112163671 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6257C>T (p.Pro2086Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232491]|Hereditary cancer-predisposing syndrome [RCV000579511] Chr5:112841851 [GRCh38]
Chr5:112177548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.150G>A (p.Trp50Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651951] Chr5:112707867 [GRCh38]
Chr5:112043564 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6508C>T (p.Pro2170Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470762]|Hereditary cancer-predisposing syndrome [RCV002358548] Chr5:112842102 [GRCh38]
Chr5:112177799 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7216A>G (p.Asn2406Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570595] Chr5:112842810 [GRCh38]
Chr5:112178507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8013T>C (p.Ser2671=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537122]|Hereditary cancer-predisposing syndrome [RCV000570627] Chr5:112843607 [GRCh38]
Chr5:112179304 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30608A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651968] Chr5:112707336 [GRCh38]
Chr5:112043033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2004C>A (p.His668Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573303] Chr5:112837598 [GRCh38]
Chr5:112173295 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4638T>C (p.Asn1546=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742717] Chr5:112840232 [GRCh38]
Chr5:112175929 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.634A>G (p.Lys212Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742762] Chr5:112780892 [GRCh38]
Chr5:112116589 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5737A>G (p.Ile1913Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652024]|Hereditary cancer-predisposing syndrome [RCV000573368]|not provided [RCV001574249] Chr5:112841331 [GRCh38]
Chr5:112177028 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.503G>A (p.Arg168Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537073]|Hereditary cancer-predisposing syndrome [RCV001178548] Chr5:112775709 [GRCh38]
Chr5:112111406 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.387A>G (p.Glu129=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529021]|Hereditary cancer-predisposing syndrome [RCV000573413] Chr5:112767355 [GRCh38]
Chr5:112103052 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5075C>G (p.Thr1692Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767170]|Hereditary cancer-predisposing syndrome [RCV000575974] Chr5:112840669 [GRCh38]
Chr5:112176366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6560G>A (p.Gly2187Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537121]|Hereditary cancer-predisposing syndrome [RCV000576010] Chr5:112842154 [GRCh38]
Chr5:112177851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5611G>T (p.Asp1871Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526859]|Familial adenomatous polyposis 1 [RCV003537141]|Hereditary cancer-predisposing syndrome [RCV000576021] Chr5:112841205 [GRCh38]
Chr5:112176902 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3761T>C (p.Ile1254Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459337]|Hereditary cancer-predisposing syndrome [RCV000576065] Chr5:112839355 [GRCh38]
Chr5:112175052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3335C>G (p.Thr1112Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003105967]|Hereditary cancer-predisposing syndrome [RCV000576074] Chr5:112838929 [GRCh38]
Chr5:112174626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7316G>A (p.Arg2439His) single nucleotide variant Familial adenomatous polyposis 1 [RCV001858358]|Familial adenomatous polyposis 1 [RCV003459377]|Hereditary cancer-predisposing syndrome [RCV000576085] Chr5:112842910 [GRCh38]
Chr5:112178607 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5061A>C (p.Arg1687=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278257] Chr5:112840655 [GRCh38]
Chr5:112176352 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7538C>G (p.Pro2513Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278260] Chr5:112843132 [GRCh38]
Chr5:112178829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1496G>T (p.Arg499Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278262] Chr5:112827195 [GRCh38]
Chr5:112162892 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3427T>G (p.Tyr1143Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278267] Chr5:112839021 [GRCh38]
Chr5:112174718 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3497A>C (p.Tyr1166Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278268] Chr5:112839091 [GRCh38]
Chr5:112174788 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2993G>A (p.Gly998Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278288] Chr5:112838587 [GRCh38]
Chr5:112174284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5781T>A (p.Leu1927=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278291] Chr5:112841375 [GRCh38]
Chr5:112177072 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3385_3386insA (p.Leu1129fs) insertion Familial adenomatous polyposis 1 [RCV003336845]|Hereditary cancer-predisposing syndrome [RCV003278294] Chr5:112838979..112838980 [GRCh38]
Chr5:112174676..112174677 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7209G>C (p.Gln2403His) single nucleotide variant not provided [RCV003318156] Chr5:112842803 [GRCh38]
Chr5:112178500 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5165A>G (p.Asp1722Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537113]|Hereditary cancer-predisposing syndrome [RCV000570695]|not provided [RCV001764655] Chr5:112840759 [GRCh38]
Chr5:112176456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3795A>G (p.Glu1265=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003316713]|not provided [RCV001561325] Chr5:112839389 [GRCh38]
Chr5:112175086 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5145C>T (p.Asp1715=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537190]|Hereditary cancer-predisposing syndrome [RCV000570737] Chr5:112840739 [GRCh38]
Chr5:112176436 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2494C>A (p.Pro832Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529011]|Hereditary cancer-predisposing syndrome [RCV000570738]|not provided [RCV001770527] Chr5:112838088 [GRCh38]
Chr5:112173785 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112707312)_(112780909_?)del deletion Familial adenomatous polyposis 1 [RCV000535350]|Familial adenomatous polyposis 1 [RCV001853709] Chr5:112707312..112780909 [GRCh38]
Chr5:112043009..112116606 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.919C>T (p.His307Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652012]|Hereditary cancer-predisposing syndrome [RCV000573556] Chr5:112815579 [GRCh38]
Chr5:112151276 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2353C>T (p.His785Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652048]|Hereditary cancer-predisposing syndrome [RCV000573557] Chr5:112837947 [GRCh38]
Chr5:112173644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2661del (p.Ile887fs) deletion not provided [RCV001284348] Chr5:112838254 [GRCh38]
Chr5:112173951 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5136A>G (p.Glu1712=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742728] Chr5:112840730 [GRCh38]
Chr5:112176427 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4921G>C (p.Val1641Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476337]|Hereditary cancer-predisposing syndrome [RCV000573603] Chr5:112840515 [GRCh38]
Chr5:112176212 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5705C>T (p.Ser1902Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537123]|Hereditary cancer-predisposing syndrome [RCV000573688] Chr5:112841299 [GRCh38]
Chr5:112176996 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.233A>C (p.Asp78Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537133]|Hereditary cancer-predisposing syndrome [RCV000573725] Chr5:112767201 [GRCh38]
Chr5:112102898 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4683G>T (p.Lys1561Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538440]|Hereditary cancer-predisposing syndrome [RCV002334154] Chr5:112840277 [GRCh38]
Chr5:112175974 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4433G>A (p.Arg1478Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744792]|not provided [RCV001284710] Chr5:112840027 [GRCh38]
Chr5:112175724 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-119G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003537047] Chr5:112707599 [GRCh38]
Chr5:112043296 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1249T>C (p.Cys417Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231834]|Hereditary cancer-predisposing syndrome [RCV001178805] Chr5:112819281 [GRCh38]
Chr5:112154978 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7684A>G (p.Ser2562Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744556]|Hereditary cancer-predisposing syndrome [RCV000571143] Chr5:112843278 [GRCh38]
Chr5:112178975 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7190C>T (p.Ala2397Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742781]|Hereditary cancer-predisposing syndrome [RCV000777144] Chr5:112842784 [GRCh38]
Chr5:112178481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3115_3116delinsCT (p.Gly1039Leu) indel Familial adenomatous polyposis 1 [RCV002234011] Chr5:112838709..112838710 [GRCh38]
Chr5:112174406..112174407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8354A>T (p.Asn2785Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235187]|Hereditary cancer-predisposing syndrome [RCV002406419] Chr5:112843948 [GRCh38]
Chr5:112179645 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.4341A>C (p.Gln1447His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538419]|Hereditary cancer-predisposing syndrome [RCV001022325]|not provided [RCV003478372] Chr5:112839935 [GRCh38]
Chr5:112175632 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1776A>T (p.Leu592Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538420]|Hereditary cancer-predisposing syndrome [RCV003162935] Chr5:112834983 [GRCh38]
Chr5:112170680 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533274]|Familial adenomatous polyposis 1 [RCV003538421]|Hereditary cancer-predisposing syndrome [RCV001021134]|not provided [RCV001811417] Chr5:112839380 [GRCh38]
Chr5:112175077 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2111T>G (p.Val704Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538422] Chr5:112837705 [GRCh38]
Chr5:112173402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6481A>G (p.Ser2161Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528928]|Familial adenomatous polyposis 1 [RCV003744611]|Hereditary cancer-predisposing syndrome [RCV001025315]|not provided [RCV003222081] Chr5:112842075 [GRCh38]
Chr5:112177772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1444G>A (p.Asp482Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538423] Chr5:112827143 [GRCh38]
Chr5:112162840 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1016G>A (p.Ser339Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538424] Chr5:112819048 [GRCh38]
Chr5:112154745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3134A>G (p.Gln1045Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538425] Chr5:112838728 [GRCh38]
Chr5:112174425 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.583C>G (p.Gln195Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653236]|Hereditary cancer-predisposing syndrome [RCV002358843] Chr5:112780841 [GRCh38]
Chr5:112116538 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5543C>G (p.Pro1848Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538426] Chr5:112841137 [GRCh38]
Chr5:112176834 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7066A>T (p.Thr2356Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538427]|Hereditary cancer-predisposing syndrome [RCV002360599] Chr5:112842660 [GRCh38]
Chr5:112178357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7660C>T (p.His2554Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538429]|Hereditary cancer-predisposing syndrome [RCV001026680] Chr5:112843254 [GRCh38]
Chr5:112178951 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3838T>G (p.Leu1280Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538430] Chr5:112839432 [GRCh38]
Chr5:112175129 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7315C>T (p.Arg2439Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533276]|Familial adenomatous polyposis 1 [RCV003538434]|Hereditary cancer-predisposing syndrome [RCV001026265] Chr5:112842909 [GRCh38]
Chr5:112178606 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5585dup (p.Leu1862fs) duplication Familial adenomatous polyposis 1 [RCV003337326]|Familial multiple polyposis syndrome [RCV000605702] Chr5:112841176..112841177 [GRCh38]
Chr5:112176873..112176874 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_001127511.3(APC):c.135T>C (p.Arg45=) single nucleotide variant not specified [RCV000605736] Chr5:112707852 [GRCh38]
Chr5:112043549 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5950A>G (p.Asn1984Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767861]|Hereditary cancer-predisposing syndrome [RCV001024716] Chr5:112841544 [GRCh38]
Chr5:112177241 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2097G>C (p.Trp699Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538435] Chr5:112837691 [GRCh38]
Chr5:112173388 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7836G>C (p.Trp2612Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538442] Chr5:112843430 [GRCh38]
Chr5:112179127 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645G>A (p.Gln215=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528942] Chr5:112780903 [GRCh38]
Chr5:112116600 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8065A>G (p.Lys2689Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538444]|Hereditary cancer-predisposing syndrome [RCV001027131] Chr5:112843659 [GRCh38]
Chr5:112179356 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8312G>T (p.Ser2771Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538445] Chr5:112843906 [GRCh38]
Chr5:112179603 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1298A>G (p.Gln433Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538446]|Hereditary cancer-predisposing syndrome [RCV001187686]|not provided [RCV002473090] Chr5:112819330 [GRCh38]
Chr5:112155027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4984A>G (p.Ile1662Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234570]|Hereditary cancer-predisposing syndrome [RCV000771691] Chr5:112840578 [GRCh38]
Chr5:112176275 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2021T>A (p.Leu674Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538456] Chr5:112837615 [GRCh38]
Chr5:112173312 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5772del (p.Lys1924fs) deletion Familial adenomatous polyposis 1 [RCV003538457] Chr5:112841364 [GRCh38]
Chr5:112177061 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3847G>A (p.Ala1283Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538458]|Hereditary cancer-predisposing syndrome [RCV003338714] Chr5:112839441 [GRCh38]
Chr5:112175138 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1309C>G (p.Pro437Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530045]|Hereditary cancer-predisposing syndrome [RCV002386082] Chr5:112819341 [GRCh38]
Chr5:112155038 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3722G>A (p.Gly1241Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538460] Chr5:112839316 [GRCh38]
Chr5:112175013 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2356C>T (p.Arg786Cys) single nucleotide variant APC-related condition [RCV003424227]|Familial adenomatous polyposis 1 [RCV002528162]|Familial adenomatous polyposis 1 [RCV003538461]|Hereditary cancer-predisposing syndrome [RCV001185031] Chr5:112837950 [GRCh38]
Chr5:112173647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5285A>G (p.Lys1762Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538464] Chr5:112840879 [GRCh38]
Chr5:112176576 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3356A>T (p.His1119Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530048]|Hereditary cancer-predisposing syndrome [RCV001020071] Chr5:112838950 [GRCh38]
Chr5:112174647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.679G>T (p.Asp227Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538441] Chr5:112792479 [GRCh38]
Chr5:112128176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6457G>C (p.Asp2153His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530032] Chr5:112842051 [GRCh38]
Chr5:112177748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2438A>T (p.Asn813Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538437]|Hereditary cancer-predisposing syndrome [RCV001015537] Chr5:112838032 [GRCh38]
Chr5:112173729 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1723T>C (p.Cys575Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744613]|Hereditary cancer-predisposing syndrome [RCV002406420] Chr5:112828952 [GRCh38]
Chr5:112164649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3186A>C (p.Gln1062His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533278]|Hereditary cancer-predisposing syndrome [RCV002325273] Chr5:112838780 [GRCh38]
Chr5:112174477 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6841G>A (p.Glu2281Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767862]|Hereditary cancer-predisposing syndrome [RCV002360601] Chr5:112842435 [GRCh38]
Chr5:112178132 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7374A>T (p.Glu2458Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530027] Chr5:112842968 [GRCh38]
Chr5:112178665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2743G>A (p.Val915Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538465] Chr5:112838337 [GRCh38]
Chr5:112174034 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2497A>C (p.Ser833Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646388]|Familial adenomatous polyposis 1 [RCV003653238]|Hereditary cancer-predisposing syndrome [RCV001015752]|not provided [RCV002269296] Chr5:112838091 [GRCh38]
Chr5:112173788 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8398G>T (p.Ala2800Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528165]|Hereditary cancer-predisposing syndrome [RCV001017682]|not specified [RCV002248841] Chr5:112843992 [GRCh38]
Chr5:112179689 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2378A>G (p.Gln793Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538478]|Hereditary cancer-predisposing syndrome [RCV001524943] Chr5:112837972 [GRCh38]
Chr5:112173669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1817T>C (p.Ile606Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533292]|Familial adenomatous polyposis 1 [RCV003538482]|Hereditary cancer-predisposing syndrome [RCV002406422] Chr5:112835024 [GRCh38]
Chr5:112170721 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8197C>G (p.Gln2733Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538484] Chr5:112843791 [GRCh38]
Chr5:112179488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7020C>A (p.Asn2340Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538487]|Hereditary cancer-predisposing syndrome [RCV003584691] Chr5:112842614 [GRCh38]
Chr5:112178311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.940A>G (p.Met314Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538488] Chr5:112818972 [GRCh38]
Chr5:112154669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7320G>C (p.Gln2440His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538489] Chr5:112842914 [GRCh38]
Chr5:112178611 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3179_3183del (p.Ile1060fs) deletion Familial adenomatous polyposis 1 [RCV003538477] Chr5:112838770..112838774 [GRCh38]
Chr5:112174467..112174471 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8252C>T (p.Thr2751Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533294]|Familial adenomatous polyposis 1 [RCV003538491]|Hereditary cancer-predisposing syndrome [RCV000773298] Chr5:112843846 [GRCh38]
Chr5:112179543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6795A>G (p.Gln2265=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538492]|Hereditary cancer-predisposing syndrome [RCV001186453] Chr5:112842389 [GRCh38]
Chr5:112178086 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2894del (p.Asn965fs) deletion Familial adenomatous polyposis 1 [RCV003336112] Chr5:112838486 [GRCh38]
Chr5:112174183 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2733A>T (p.Glu911Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767865]|Hereditary cancer-predisposing syndrome [RCV001182318]|Ovarian cancer [RCV003153786] Chr5:112838327 [GRCh38]
Chr5:112174024 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8410C>G (p.Gln2804Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538493] Chr5:112844004 [GRCh38]
Chr5:112179701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4945A>G (p.Ile1649Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530403]|Familial adenomatous polyposis 1 [RCV003538497]|Hereditary cancer-predisposing syndrome [RCV002256442] Chr5:112840539 [GRCh38]
Chr5:112176236 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5495A>G (p.Asp1832Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538498]|Hereditary cancer-predisposing syndrome [RCV002343322] Chr5:112841089 [GRCh38]
Chr5:112176786 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6248T>G (p.Ile2083Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538500]|Hereditary cancer-predisposing syndrome [RCV001191934] Chr5:112841842 [GRCh38]
Chr5:112177539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2488G>C (p.Val830Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538501] Chr5:112838082 [GRCh38]
Chr5:112173779 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5860_5863del (p.Phe1954fs) deletion Familial adenomatous polyposis 1 [RCV003538502] Chr5:112841454..112841457 [GRCh38]
Chr5:112177151..112177154 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.878G>A (p.Ser293Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646467]|Familial adenomatous polyposis 1 [RCV003538503]|Hereditary cancer-predisposing syndrome [RCV000772056] Chr5:112815538 [GRCh38]
Chr5:112151235 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8143A>G (p.Thr2715Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538504] Chr5:112843737 [GRCh38]
Chr5:112179434 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4577C>T (p.Pro1526Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528173]|Familial adenomatous polyposis 1 [RCV003538506]|Hereditary cancer-predisposing syndrome [RCV001191935] Chr5:112840171 [GRCh38]
Chr5:112175868 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4496G>T (p.Gly1499Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538507]|Hereditary cancer-predisposing syndrome [RCV002331203] Chr5:112840090 [GRCh38]
Chr5:112175787 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3783_3784del (p.Tyr1262fs) deletion Familial adenomatous polyposis 1 [RCV003337329]|Familial multiple polyposis syndrome [RCV001192798] Chr5:112839377..112839378 [GRCh38]
Chr5:112175074..112175075 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.108del (p.Lys36fs) deletion Familial adenomatous polyposis 1 [RCV003337328] Chr5:112754995 [GRCh38]
Chr5:112090692 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2323A>G (p.Asn775Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538476] Chr5:112837917 [GRCh38]
Chr5:112173614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5128A>G (p.Ile1710Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538475]|Hereditary cancer-predisposing syndrome [RCV001023585] Chr5:112840722 [GRCh38]
Chr5:112176419 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6502C>T (p.Leu2168=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742765]|Hereditary cancer-predisposing syndrome [RCV001190912] Chr5:112842096 [GRCh38]
Chr5:112177793 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.16G>A (p.Gly6Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537041]|not provided [RCV000679422] Chr5:112707733 [GRCh38]
Chr5:112043430 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1505G>A (p.Gly502Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571423] Chr5:112827204 [GRCh38]
Chr5:112162901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4516C>G (p.Leu1506Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537172]|Hereditary cancer-predisposing syndrome [RCV000571503] Chr5:112840110 [GRCh38]
Chr5:112175807 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-3C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003743778]|Hereditary cancer-predisposing syndrome [RCV002404499] Chr5:112828853 [GRCh38]
Chr5:112164550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4625C>G (p.Pro1542Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537129]|Hereditary cancer-predisposing syndrome [RCV000574030] Chr5:112840219 [GRCh38]
Chr5:112175916 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4252A>T (p.Ile1418Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530876]|Familial adenomatous polyposis 1 [RCV003653217]|Hereditary cancer-predisposing syndrome [RCV001022148]|not provided [RCV000586634] Chr5:112839846 [GRCh38]
Chr5:112175543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3780G>C (p.Gln1260His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003465409]|Hereditary cancer-predisposing syndrome [RCV002343321]|not provided [RCV001575978] Chr5:112839374 [GRCh38]
Chr5:112175071 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6605A>G (p.Lys2202Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538470]|Hereditary cancer-predisposing syndrome [RCV001025448] Chr5:112842199 [GRCh38]
Chr5:112177896 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1525A>T (p.Thr509Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530383] Chr5:112827224 [GRCh38]
Chr5:112162921 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4349G>T (p.Arg1450Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646393]|Familial adenomatous polyposis 1 [RCV003538469] Chr5:112839943 [GRCh38]
Chr5:112175640 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8293A>G (p.Ser2765Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538508]|Hereditary cancer-predisposing syndrome [RCV003343972] Chr5:112843887 [GRCh38]
Chr5:112179584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.524C>G (p.Thr175Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538509] Chr5:112775730 [GRCh38]
Chr5:112111427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6637A>T (p.Met2213Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538510] Chr5:112842231 [GRCh38]
Chr5:112177928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4389dup (p.Glu1464fs) duplication Familial adenomatous polyposis 1 [RCV002530412]|Familial adenomatous polyposis 1 [RCV003538511] Chr5:112839982..112839983 [GRCh38]
Chr5:112175679..112175680 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2552G>A (p.Ser851Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530413]|Familial adenomatous polyposis 1 [RCV003538512]|Hereditary cancer-predisposing syndrome [RCV002458099]|not provided [RCV000679051]|not specified [RCV002265838] Chr5:112838146 [GRCh38]
Chr5:112173843 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.236G>A (p.Ser79Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538513]|Hereditary cancer-predisposing syndrome [RCV002449053] Chr5:112767204 [GRCh38]
Chr5:112102901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7957A>G (p.Lys2653Glu) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155675]|Familial adenomatous polyposis 1 [RCV003538516]|Hereditary cancer-predisposing syndrome [RCV002258987] Chr5:112843551 [GRCh38]
Chr5:112179248 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8240C>T (p.Pro2747Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538517] Chr5:112843834 [GRCh38]
Chr5:112179531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4363_4365delinsGCTGA (p.Asn1455fs) indel Familial adenomatous polyposis 1 [RCV003538518] Chr5:112839957..112839959 [GRCh38]
Chr5:112175654..112175656 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8483C>A (p.Thr2828Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538519]|not provided [RCV001800839] Chr5:112844077 [GRCh38]
Chr5:112179774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2845A>T (p.Met949Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530419]|Hereditary cancer-predisposing syndrome [RCV001016758] Chr5:112838439 [GRCh38]
Chr5:112174136 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3718A>G (p.Ser1240Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528178]|Hereditary cancer-predisposing syndrome [RCV001191939] Chr5:112839312 [GRCh38]
Chr5:112175009 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5755A>T (p.Asn1919Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530424]|Hereditary cancer-predisposing syndrome [RCV001024487] Chr5:112841349 [GRCh38]
Chr5:112177046 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1616_1623del (p.Asp539fs) deletion Familial adenomatous polyposis 1 [RCV003538529] Chr5:112827994..112828001 [GRCh38]
Chr5:112163691..112163698 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1366C>G (p.Leu456Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538530] Chr5:112821949 [GRCh38]
Chr5:112157646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30603G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538531] Chr5:112707341 [GRCh38]
Chr5:112043038 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.22G>A (p.Gly8Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538532] Chr5:112707739 [GRCh38]
Chr5:112043436 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8148G>C (p.Val2716=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538533]|not provided [RCV000842002] Chr5:112843742 [GRCh38]
Chr5:112179439 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30501A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653242] Chr5:112707443 [GRCh38]
Chr5:112043140 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-5C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538534] Chr5:112707713 [GRCh38]
Chr5:112043410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-135C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538535] Chr5:112707583 [GRCh38]
Chr5:112043280 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30576G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538536] Chr5:112707368 [GRCh38]
Chr5:112043065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30476T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002234625] Chr5:112707468 [GRCh38]
Chr5:112043165 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4518G>T (p.Leu1506=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538537]|Hereditary cancer-predisposing syndrome [RCV002334156] Chr5:112840112 [GRCh38]
Chr5:112175809 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-163G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002235225] Chr5:112707555 [GRCh38]
Chr5:112043252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1416A>G (p.Leu472=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530432]|Hereditary cancer-predisposing syndrome [RCV003338715] Chr5:112827115 [GRCh38]
Chr5:112162812 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-118G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744614] Chr5:112707600 [GRCh38]
Chr5:112043297 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2379A>G (p.Gln793=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538538]|Hereditary cancer-predisposing syndrome [RCV001191940] Chr5:112837973 [GRCh38]
Chr5:112173670 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-178G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744615] Chr5:112707540 [GRCh38]
Chr5:112043237 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7308A>G (p.Val2436=) single nucleotide variant APC-related condition [RCV003928100]|Familial adenomatous polyposis 1 [RCV003538541]|Hereditary cancer-predisposing syndrome [RCV001026251]|not provided [RCV000985317] Chr5:112842902 [GRCh38]
Chr5:112178599 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_001127511.3(APC):c.100G>A (p.Val34Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653243] Chr5:112707817 [GRCh38]
Chr5:112043514 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4233T>C (p.Ser1411=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538546]|Hereditary cancer-predisposing syndrome [RCV001022104]|not provided [RCV001800840]|not specified [RCV002307572] Chr5:112839827 [GRCh38]
Chr5:112175524 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.495C>T (p.Leu165=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538548] Chr5:112775701 [GRCh38]
Chr5:112111398 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-218A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002533313] Chr5:112707500 [GRCh38]
Chr5:112043197 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538549] Chr5:112707584 [GRCh38]
Chr5:112043281 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3981A>T (p.Ser1327=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530443] Chr5:112839575 [GRCh38]
Chr5:112175272 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-171G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653244] Chr5:112707547 [GRCh38]
Chr5:112043244 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30540T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002533314] Chr5:112707404 [GRCh38]
Chr5:112043101 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.163C>A (p.Gln55Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538551] Chr5:112707880 [GRCh38]
Chr5:112043577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7122C>T (p.Ser2374=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538552] Chr5:112842716 [GRCh38]
Chr5:112178413 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2616T>C (p.Thr872=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538554]|Hereditary cancer-predisposing syndrome [RCV002424484] Chr5:112838210 [GRCh38]
Chr5:112173907 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-7G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744619]|Hereditary cancer-predisposing syndrome [RCV001191941] Chr5:112780783 [GRCh38]
Chr5:112116480 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.103C>T (p.Arg35Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538555] Chr5:112707820 [GRCh38]
Chr5:112043517 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.264G>A (p.Arg88=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538556]|Hereditary cancer-predisposing syndrome [RCV001016208] Chr5:112767232 [GRCh38]
Chr5:112102929 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.17G>A (p.Gly6Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538557] Chr5:112707734 [GRCh38]
Chr5:112043431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-59T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538558] Chr5:112707659 [GRCh38]
Chr5:112043356 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7059T>C (p.Thr2353=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767867]|Hereditary cancer-predisposing syndrome [RCV001025978] Chr5:112842653 [GRCh38]
Chr5:112178350 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5253G>A (p.Gln1751=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533318]|Hereditary cancer-predisposing syndrome [RCV003584693] Chr5:112840847 [GRCh38]
Chr5:112176544 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-168G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538559] Chr5:112707550 [GRCh38]
Chr5:112043247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6630A>G (p.Ser2210=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538560]|Hereditary cancer-predisposing syndrome [RCV002360605] Chr5:112842224 [GRCh38]
Chr5:112177921 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30506T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538561] Chr5:112707438 [GRCh38]
Chr5:112043135 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-61T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538568] Chr5:112707657 [GRCh38]
Chr5:112043354 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-84T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538569] Chr5:112707634 [GRCh38]
Chr5:112043331 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30490T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538570] Chr5:112707454 [GRCh38]
Chr5:112043151 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30540T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538572] Chr5:112707404 [GRCh38]
Chr5:112043101 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30547G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002528194] Chr5:112707397 [GRCh38]
Chr5:112043094 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+10G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653245] Chr5:112707892 [GRCh38]
Chr5:112043589 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4128T>C (p.Tyr1376=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538573] Chr5:112839722 [GRCh38]
Chr5:112175419 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2670C>A (p.Val890=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538574]|Hereditary cancer-predisposing syndrome [RCV002424485] Chr5:112838264 [GRCh38]
Chr5:112173961 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.207A>G (p.Leu69=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538575] Chr5:112766397 [GRCh38]
Chr5:112102094 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-133C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538576] Chr5:112707585 [GRCh38]
Chr5:112043282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-156C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538577] Chr5:112707562 [GRCh38]
Chr5:112043259 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4950_4951dup (p.Phe1651fs) duplication Hereditary cancer-predisposing syndrome [RCV000571662] Chr5:112840543..112840544 [GRCh38]
Chr5:112176240..112176241 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.674A>T (p.Glu225Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742769]|Hereditary cancer-predisposing syndrome [RCV001025610] Chr5:112792474 [GRCh38]
Chr5:112128171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.811A>T (p.Met271Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652015]|Hereditary cancer-predisposing syndrome [RCV000574127]|not provided [RCV003478244]|not specified [RCV000610822] Chr5:112801360 [GRCh38]
Chr5:112137057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7950T>C (p.Ala2650=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742801] Chr5:112843544 [GRCh38]
Chr5:112179241 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.939A>G (p.Glu313=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574261] Chr5:112818971 [GRCh38]
Chr5:112154668 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001354897.2(APC):c.-250T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538578]|not specified [RCV002465744] Chr5:112707468 [GRCh38]
Chr5:112043165 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.28G>T (p.Val10Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538579] Chr5:112707745 [GRCh38]
Chr5:112043442 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4452T>C (p.Asp1484=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533327]|Hereditary cancer-predisposing syndrome [RCV002331205] Chr5:112840046 [GRCh38]
Chr5:112175743 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1313-10T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002533328] Chr5:112821886 [GRCh38]
Chr5:112157583 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.25C>A (p.Pro9Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767868] Chr5:112707742 [GRCh38]
Chr5:112043439 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4854A>G (p.Leu1618=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533332]|Hereditary cancer-predisposing syndrome [RCV002334157] Chr5:112840448 [GRCh38]
Chr5:112176145 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-32C>T single nucleotide variant Desmoid disease, hereditary [RCV002483865]|Familial adenomatous polyposis 1 [RCV003653248] Chr5:112707686 [GRCh38]
Chr5:112043383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-124C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534533] Chr5:112707594 [GRCh38]
Chr5:112043291 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6039T>C (p.His2013=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534534]|Hereditary cancer-predisposing syndrome [RCV002358846] Chr5:112841633 [GRCh38]
Chr5:112177330 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-123C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534535]|not specified [RCV003320719] Chr5:112707595 [GRCh38]
Chr5:112043292 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4155C>T (p.Ser1385=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767869]|Hereditary cancer-predisposing syndrome [RCV002331206] Chr5:112839749 [GRCh38]
Chr5:112175446 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30528G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653249] Chr5:112707416 [GRCh38]
Chr5:112043113 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30460C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003767870] Chr5:112707484 [GRCh38]
Chr5:112043181 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.618C>A (p.Thr206=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528203]|Hereditary cancer-predisposing syndrome [RCV002256444] Chr5:112780876 [GRCh38]
Chr5:112116573 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-186G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002533334] Chr5:112707532 [GRCh38]
Chr5:112043229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30536C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653250] Chr5:112707408 [GRCh38]
Chr5:112043105 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.148T>C (p.Trp50Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744622] Chr5:112707865 [GRCh38]
Chr5:112043562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30479C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534542] Chr5:112707465 [GRCh38]
Chr5:112043162 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-140C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744623]|not specified [RCV003320205] Chr5:112707578 [GRCh38]
Chr5:112043275 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3562C>A (p.Pro1188Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231964]|Hereditary cancer-predisposing syndrome [RCV002456176] Chr5:112839156 [GRCh38]
Chr5:112174853 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6065C>G (p.Ser2022Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335472]|Familial adenomatous polyposis 1 [RCV003742755] Chr5:112841659 [GRCh38]
Chr5:112177356 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2533C>T (p.Arg845Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530325]|Familial adenomatous polyposis 1 [RCV003537180]|Hereditary cancer-predisposing syndrome [RCV000574291]|Ovarian cancer [RCV003153743] Chr5:112838127 [GRCh38]
Chr5:112173824 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.5490T>G (p.Asn1830Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537201]|Hereditary cancer-predisposing syndrome [RCV000574299]|not provided [RCV000585113] Chr5:112841084 [GRCh38]
Chr5:112176781 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1851T>G (p.Val617=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574343] Chr5:112835058 [GRCh38]
Chr5:112170755 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+5A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002528431] Chr5:112766415 [GRCh38]
Chr5:112102112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-177T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002528473] Chr5:112707541 [GRCh38]
Chr5:112043238 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4849C>G (p.Leu1617Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742721]|Hereditary cancer-predisposing syndrome [RCV002341384] Chr5:112840443 [GRCh38]
Chr5:112176140 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-146C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742650] Chr5:112707572 [GRCh38]
Chr5:112043269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7236A>T (p.Lys2412Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572004] Chr5:112842830 [GRCh38]
Chr5:112178527 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.807C>A (p.Ile269=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651980]|Hereditary cancer-predisposing syndrome [RCV000777195] Chr5:112801356 [GRCh38]
Chr5:112137053 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4141_4142insGGTC (p.Pro1381fs) insertion Familial adenomatous polyposis 1 [RCV003335513]|Hereditary cancer-predisposing syndrome [RCV000574445] Chr5:112839734..112839735 [GRCh38]
Chr5:112175431..112175432 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1097A>C (p.Asp366Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743769] Chr5:112819129 [GRCh38]
Chr5:112154826 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3980C>G (p.Ser1327Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335470]|Familial adenomatous polyposis 1 [RCV003742696] Chr5:112839574 [GRCh38]
Chr5:112175271 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.80C>T (p.Thr27Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742634] Chr5:112707797 [GRCh38]
Chr5:112043494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2135A>G (p.His712Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537154]|Hereditary cancer-predisposing syndrome [RCV000572071] Chr5:112837729 [GRCh38]
Chr5:112173426 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2611G>A (p.Gly871Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742615]|Hereditary cancer-predisposing syndrome [RCV001016102] Chr5:112838205 [GRCh38]
Chr5:112173902 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30460C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003767021] Chr5:112707484 [GRCh38]
Chr5:112043181 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8119_8120delinsTCGTT (p.Gly2707delinsSerPhe) indel Familial adenomatous polyposis 1 [RCV003114692]|Hereditary cancer-predisposing syndrome [RCV000572210] Chr5:112843713..112843714 [GRCh38]
Chr5:112179410..112179411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1587T>C (p.Leu529=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743776]|Hereditary cancer-predisposing syndrome [RCV001185972] Chr5:112827967 [GRCh38]
Chr5:112163664 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-130G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742647] Chr5:112707588 [GRCh38]
Chr5:112043285 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.130dup (p.Met44fs) duplication Familial adenomatous polyposis 1 [RCV003316961] Chr5:112755019..112755020 [GRCh38]
Chr5:112090716..112090717 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7393C>G (p.Leu2465Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767041]|Hereditary cancer-predisposing syndrome [RCV001026372] Chr5:112842987 [GRCh38]
Chr5:112178684 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4469A>G (p.His1490Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742711]|Hereditary cancer-predisposing syndrome [RCV000580591] Chr5:112840063 [GRCh38]
Chr5:112175760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5881G>C (p.Val1961Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572397] Chr5:112841475 [GRCh38]
Chr5:112177172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8291C>T (p.Ser2764Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537091] Chr5:112843885 [GRCh38]
Chr5:112179582 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.284C>T (p.Ser95Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537161]|Hereditary cancer-predisposing syndrome [RCV000574779]|not provided [RCV001764656]|not specified [RCV003114691] Chr5:112767252 [GRCh38]
Chr5:112102949 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2040A>G (p.Ala680=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742595]|Hereditary cancer-predisposing syndrome [RCV003278902] Chr5:112837634 [GRCh38]
Chr5:112173331 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6784A>T (p.Ser2262Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574868] Chr5:112842378 [GRCh38]
Chr5:112178075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5651C>G (p.Ala1884Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574869] Chr5:112841245 [GRCh38]
Chr5:112176942 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7469A>G (p.Asp2490Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767245]|Hereditary cancer-predisposing syndrome [RCV000574906]|not provided [RCV001755962] Chr5:112843063 [GRCh38]
Chr5:112178760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1869del (p.Ser624fs) deletion Familial adenomatous polyposis 1 [RCV003316979] Chr5:112835075 [GRCh38]
Chr5:112170772 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6094A>G (p.Ile2032Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652017]|Hereditary cancer-predisposing syndrome [RCV000570071]|not provided [RCV003148793] Chr5:112841688 [GRCh38]
Chr5:112177385 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2738A>G (p.His913Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528960]|Familial adenomatous polyposis 1 [RCV003537188]|Hereditary cancer-predisposing syndrome [RCV000570077]|not provided [RCV001584390] Chr5:112838332 [GRCh38]
Chr5:112174029 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4491A>G (p.Pro1497=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537069]|Hereditary cancer-predisposing syndrome [RCV000582962] Chr5:112840085 [GRCh38]
Chr5:112175782 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1953C>G (p.Asp651Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743783] Chr5:112835160 [GRCh38]
Chr5:112170857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.135+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003335504]|Hereditary cancer-predisposing syndrome [RCV000570470]|not provided [RCV000758720] Chr5:112755026 [GRCh38]
Chr5:112090723 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1435T>C (p.Leu479=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537159]|Hereditary cancer-predisposing syndrome [RCV000570510] Chr5:112827134 [GRCh38]
Chr5:112162831 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001354897.2(APC):c.-241delA deletion Familial adenomatous polyposis 1 [RCV003767726]|not specified [RCV000601483] Chr5:112707477 [GRCh38]
Chr5:112043174 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.3608G>T (p.Gly1203Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000560972] Chr5:112839202 [GRCh38]
Chr5:112174899 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5920del (p.Asp1974fs) deletion Hereditary cancer-predisposing syndrome [RCV000562461] Chr5:112841514 [GRCh38]
Chr5:112177211 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6752C>T (p.Pro2251Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563570] Chr5:112842346 [GRCh38]
Chr5:112178043 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7901C>T (p.Ala2634Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002526868]|Hereditary cancer-predisposing syndrome [RCV000571245] Chr5:112843495 [GRCh38]
Chr5:112179192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-120C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742644] Chr5:112707598 [GRCh38]
Chr5:112043295 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4264_4269del (p.Asp1422_Leu1423del) deletion Familial adenomatous polyposis 1 [RCV003742706] Chr5:112839857..112839862 [GRCh38]
Chr5:112175554..112175559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4880A>C (p.Gln1627Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300889] Chr5:112840474 [GRCh38]
Chr5:112176171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3785A>T (p.Tyr1262Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306839] Chr5:112839379 [GRCh38]
Chr5:112175076 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4672G>T (p.Asp1558Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306840] Chr5:112840266 [GRCh38]
Chr5:112175963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4852C>A (p.Leu1618Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306841] Chr5:112840446 [GRCh38]
Chr5:112176143 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6482G>T (p.Ser2161Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306842] Chr5:112842076 [GRCh38]
Chr5:112177773 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6731G>T (p.Ser2244Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306843] Chr5:112842325 [GRCh38]
Chr5:112178022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7312G>T (p.Val2438Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306844] Chr5:112842906 [GRCh38]
Chr5:112178603 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7727C>A (p.Ala2576Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306845] Chr5:112843321 [GRCh38]
Chr5:112179018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.501A>C (p.Lys167Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745576]|Hereditary cancer-predisposing syndrome [RCV003306846] Chr5:112775707 [GRCh38]
Chr5:112111404 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7313T>A (p.Val2438Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306847] Chr5:112842907 [GRCh38]
Chr5:112178604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4203del (p.Ile1401fs) deletion Hereditary cancer-predisposing syndrome [RCV003306848] Chr5:112839796 [GRCh38]
Chr5:112175493 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5662A>G (p.Lys1888Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306850] Chr5:112841256 [GRCh38]
Chr5:112176953 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7803T>C (p.Ser2601=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306851] Chr5:112843397 [GRCh38]
Chr5:112179094 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2137T>C (p.Ser713Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306852] Chr5:112837731 [GRCh38]
Chr5:112173428 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7162G>C (p.Ala2388Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306853] Chr5:112842756 [GRCh38]
Chr5:112178453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7927C>G (p.Leu2643Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745577]|Hereditary cancer-predisposing syndrome [RCV003306854] Chr5:112843521 [GRCh38]
Chr5:112179218 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3560T>A (p.Ile1187Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306855] Chr5:112839154 [GRCh38]
Chr5:112174851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1490T>A (p.Leu497Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306856] Chr5:112827189 [GRCh38]
Chr5:112162886 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2354A>C (p.His785Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306857] Chr5:112837948 [GRCh38]
Chr5:112173645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3383C>A (p.Ser1128Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306858] Chr5:112838977 [GRCh38]
Chr5:112174674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.431T>C (p.Leu144Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306863] Chr5:112775637 [GRCh38]
Chr5:112111334 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2477_2500delinsCA (p.Leu826fs) indel Hereditary cancer-predisposing syndrome [RCV003306864] Chr5:112838071..112838094 [GRCh38]
Chr5:112173768..112173791 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.220+3del deletion Familial adenomatous polyposis 1 [RCV003745578]|Hereditary cancer-predisposing syndrome [RCV003306865] Chr5:112766413 [GRCh38]
Chr5:112102110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5337A>T (p.Ile1779=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306866] Chr5:112840931 [GRCh38]
Chr5:112176628 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1078_1079del (p.Leu360fs) deletion Hereditary cancer-predisposing syndrome [RCV003306867] Chr5:112819108..112819109 [GRCh38]
Chr5:112154805..112154806 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1067T>A (p.Leu356His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306868] Chr5:112819099 [GRCh38]
Chr5:112154796 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3260T>A (p.Leu1087His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306869] Chr5:112838854 [GRCh38]
Chr5:112174551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2515G>A (p.Gly839Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306871] Chr5:112838109 [GRCh38]
Chr5:112173806 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6345A>C (p.Leu2115Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306873] Chr5:112841939 [GRCh38]
Chr5:112177636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.166-29015A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000663007]|Hereditary cancer-predisposing syndrome [RCV002255475]|not specified [RCV000602321] Chr5:112737311 [GRCh38]
Chr5:112073008 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.7942G>T (p.Ala2648Ser) single nucleotide variant Carcinoma of colon [RCV001356673]|Familial adenomatous polyposis 1 [RCV003537088]|Hereditary cancer-predisposing syndrome [RCV003584662] Chr5:112843536 [GRCh38]
Chr5:112179233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4038A>C (p.Ser1346=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742700] Chr5:112839632 [GRCh38]
Chr5:112175329 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2221A>G (p.Asn741Asp) single nucleotide variant APC-related condition [RCV003900199]|Familial adenomatous polyposis 1 [RCV003742600]|Hereditary cancer-predisposing syndrome [RCV003159864] Chr5:112837815 [GRCh38]
Chr5:112173512 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-133C>T single nucleotide variant APC-related condition [RCV003960353]|Familial adenomatous polyposis 1 [RCV003537052]|not provided [RCV003431095]|not specified [RCV003320684] Chr5:112707585 [GRCh38]
Chr5:112043282 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3045T>C (p.Asp1015=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528042]|Hereditary cancer-predisposing syndrome [RCV000569468]|not specified [RCV002307549] Chr5:112838639 [GRCh38]
Chr5:112174336 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7654A>T (p.Ser2552Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742791]|Hereditary cancer-predisposing syndrome [RCV000569478]|not specified [RCV001293518] Chr5:112843248 [GRCh38]
Chr5:112178945 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3506A>G (p.Glu1169Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742681]|Hereditary cancer-predisposing syndrome [RCV001020476] Chr5:112839100 [GRCh38]
Chr5:112174797 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5348C>G (p.Thr1783Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742734]|Hereditary cancer-predisposing syndrome [RCV000776877]|not provided [RCV001764582] Chr5:112840942 [GRCh38]
Chr5:112176639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.245T>C (p.Phe82Ser) single nucleotide variant Desmoid disease, hereditary [RCV001293968]|Familial adenomatous polyposis 1 [RCV003537208]|Hereditary cancer-predisposing syndrome [RCV000569708] Chr5:112767213 [GRCh38]
Chr5:112102910 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2545G>A (p.Asp849Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742612]|Hereditary cancer-predisposing syndrome [RCV000580265]|not provided [RCV003237916]|not specified [RCV002307540] Chr5:112838139 [GRCh38]
Chr5:112173836 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3759T>C (p.Ser1253=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744608]|Hereditary cancer-predisposing syndrome [RCV002343163]|not specified [RCV000609564] Chr5:112839353 [GRCh38]
Chr5:112175050 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1029C>T (p.Ser343=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744604]|Hereditary cancer-predisposing syndrome [RCV002384348]|not specified [RCV000612185] Chr5:112819061 [GRCh38]
Chr5:112154758 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30531A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003651963] Chr5:112707413 [GRCh38]
Chr5:112043110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8439A>T (p.Thr2813=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742816] Chr5:112844033 [GRCh38]
Chr5:112179730 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5158G>A (p.Glu1720Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232194]|Familial adenomatous polyposis 1 [RCV003459411]|Hereditary cancer-predisposing syndrome [RCV000574126] Chr5:112840752 [GRCh38]
Chr5:112176449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8221G>C (p.Gly2741Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528060]|Hereditary cancer-predisposing syndrome [RCV000574199] Chr5:112843815 [GRCh38]
Chr5:112179512 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4597A>C (p.Asn1533His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529016]|Hereditary cancer-predisposing syndrome [RCV000571768] Chr5:112840191 [GRCh38]
Chr5:112175888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3771A>G (p.Glu1257=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744571]|Hereditary cancer-predisposing syndrome [RCV000571777] Chr5:112839365 [GRCh38]
Chr5:112175062 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7479A>G (p.Leu2493=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537162]|Hereditary cancer-predisposing syndrome [RCV000574342]|not provided [RCV001712584]|not specified [RCV001192983] Chr5:112843073 [GRCh38]
Chr5:112178770 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002528043]|Familial adenomatous polyposis 1 [RCV003537117]|Hereditary cancer-predisposing syndrome [RCV000574350] Chr5:112780904 [GRCh38]
Chr5:112116601 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2640C>A (p.Ile880=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653230]|not specified [RCV000601513] Chr5:112838234 [GRCh38]
Chr5:112173931 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.958T>G (p.Ser320Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744545] Chr5:112818990 [GRCh38]
Chr5:112154687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6087T>C (p.Ser2029=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652004]|Hereditary cancer-predisposing syndrome [RCV000572044] Chr5:112841681 [GRCh38]
Chr5:112177378 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6994G>C (p.Gly2332Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002527858]|Familial adenomatous polyposis 1 [RCV003742776]|Hereditary cancer-predisposing syndrome [RCV002367896]|not provided [RCV002298660] Chr5:112842588 [GRCh38]
Chr5:112178285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7465C>T (p.Pro2489Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537126]|Hereditary cancer-predisposing syndrome [RCV000574460] Chr5:112843059 [GRCh38]
Chr5:112178756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1567A>T (p.Lys523Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003317015] Chr5:112827947 [GRCh38]
Chr5:112163644 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7872T>C (p.Asn2624=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744607]|Hereditary cancer-predisposing syndrome [RCV000774840]|not provided [RCV001719085] Chr5:112843466 [GRCh38]
Chr5:112179163 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5694A>G (p.Thr1898=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653226]|Hereditary cancer-predisposing syndrome [RCV002350468]|not specified [RCV000615924] Chr5:112841288 [GRCh38]
Chr5:112176985 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2570G>T (p.Gly857Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537035]|Hereditary cancer-predisposing syndrome [RCV003343912]|not provided [RCV003320680] Chr5:112838164 [GRCh38]
Chr5:112173861 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3218C>T (p.Thr1073Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232647]|Familial adenomatous polyposis 1 [RCV003476348]|Hereditary cancer-predisposing syndrome [RCV000572159]|not provided [RCV001764676]|not specified [RCV000584548] Chr5:112838812 [GRCh38]
Chr5:112174509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7048T>A (p.Ser2350Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652008]|Hereditary cancer-predisposing syndrome [RCV000572202] Chr5:112842642 [GRCh38]
Chr5:112178339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3451G>C (p.Glu1151Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651998]|Hereditary cancer-predisposing syndrome [RCV000572235] Chr5:112839045 [GRCh38]
Chr5:112174742 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5381A>T (p.Asp1794Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742735] Chr5:112840975 [GRCh38]
Chr5:112176672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2498G>C (p.Ser833Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767244]|Hereditary cancer-predisposing syndrome [RCV000574540] Chr5:112838092 [GRCh38]
Chr5:112173789 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.166-28922G>A single nucleotide variant not specified [RCV000600570] Chr5:112737404 [GRCh38]
Chr5:112073101 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1656T>G (p.Ser552=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538400]|Hereditary cancer-predisposing syndrome [RCV001012584]|not provided [RCV001284233]|not specified [RCV000612951] Chr5:112828885 [GRCh38]
Chr5:112164582 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3164_3168del (p.Ile1055fs) deletion Familial adenomatous polyposis 1 [RCV003335520]|Hereditary cancer-predisposing syndrome [RCV000568840]|not provided [RCV000758726] Chr5:112838757..112838761 [GRCh38]
Chr5:112174454..112174458 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-131G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003767018]|not specified [RCV002268155] Chr5:112707587 [GRCh38]
Chr5:112043284 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.8181G>C (p.Gln2727His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653225]|Hereditary cancer-predisposing syndrome [RCV002431761]|not specified [RCV000616178] Chr5:112843775 [GRCh38]
Chr5:112179472 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4282G>A (p.Gly1428Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652003]|Hereditary cancer-predisposing syndrome [RCV000569355] Chr5:112839876 [GRCh38]
Chr5:112175573 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220G>C (p.Glu74Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742597]|not specified [RCV001290660] Chr5:112766410 [GRCh38]
Chr5:112102107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3229G>C (p.Val1077Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537187]|Hereditary cancer-predisposing syndrome [RCV000569426]|not specified [RCV002248788] Chr5:112838823 [GRCh38]
Chr5:112174520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-83C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537046] Chr5:112707635 [GRCh38]
Chr5:112043332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6104A>T (p.Glu2035Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742756] Chr5:112841698 [GRCh38]
Chr5:112177395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2819C>G (p.Ser940Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742624]|Hereditary cancer-predisposing syndrome [RCV001016677]|not specified [RCV000615455] Chr5:112838413 [GRCh38]
Chr5:112174110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7721T>C (p.Leu2574Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742795]|Hereditary cancer-predisposing syndrome [RCV000581630] Chr5:112843315 [GRCh38]
Chr5:112179012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1471G>A (p.Asp491Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537151]|Hereditary cancer-predisposing syndrome [RCV000572436] Chr5:112827170 [GRCh38]
Chr5:112162867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7498C>A (p.Gln2500Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537131]|Hereditary cancer-predisposing syndrome [RCV000572443]|not provided [RCV001700223] Chr5:112843092 [GRCh38]
Chr5:112178789 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4540C>T (p.Pro1514Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537183]|Hereditary cancer-predisposing syndrome [RCV000572447]|not specified [RCV000608323] Chr5:112840134 [GRCh38]
Chr5:112175831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2161_2170del (p.Gly721fs) deletion Familial adenomatous polyposis 1 [RCV001853965]|Familial adenomatous polyposis 1 [RCV003744601]|Familial multiple polyposis syndrome [RCV000589699] Chr5:112837753..112837762 [GRCh38]
Chr5:112173450..112173459 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6354TGC[6] (p.Ala2121_Ala2122dup) microsatellite Familial adenomatous polyposis 1 [RCV003742763]|Hereditary cancer-predisposing syndrome [RCV000582732] Chr5:112841945..112841946 [GRCh38]
Chr5:112177642..112177643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4657G>A (p.Ala1553Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537070] Chr5:112840251 [GRCh38]
Chr5:112175948 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.64C>T (p.Leu22Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742636] Chr5:112707781 [GRCh38]
Chr5:112043478 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4482A>G (p.Glu1494=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652033]|Hereditary cancer-predisposing syndrome [RCV000569727] Chr5:112840076 [GRCh38]
Chr5:112175773 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.853G>A (p.Asp285Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537092]|Hereditary cancer-predisposing syndrome [RCV002448735] Chr5:112815513 [GRCh38]
Chr5:112151210 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-219C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002526237] Chr5:112707499 [GRCh38]
Chr5:112043196 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.-151G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002526231]|not provided [RCV003326458] Chr5:112707567 [GRCh38]
Chr5:112043264 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1958+6T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743784]|Hereditary cancer-predisposing syndrome [RCV000583831] Chr5:112835171 [GRCh38]
Chr5:112170868 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1983T>A (p.Cys661Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537032] Chr5:112837577 [GRCh38]
Chr5:112173274 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1409-13C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003767491]|not specified [RCV000607806] Chr5:112827095 [GRCh38]
Chr5:112162792 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2454C>T (p.Asn818=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538413]|not provided [RCV001698496] Chr5:112838048 [GRCh38]
Chr5:112173745 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5775C>T (p.Pro1925=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232569]|Hereditary cancer-predisposing syndrome [RCV001181769]|not provided [RCV000872464] Chr5:112841369 [GRCh38]
Chr5:112177066 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7272A>G (p.Ser2424=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538403]|not specified [RCV000610508] Chr5:112842866 [GRCh38]
Chr5:112178563 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.543_546del (p.Thr182fs) deletion Familial adenomatous polyposis 1 [RCV003742736]|Hereditary cancer-predisposing syndrome [RCV002350317] Chr5:112780798..112780801 [GRCh38]
Chr5:112116495..112116498 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7473G>A (p.Met2491Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537148]|Hereditary cancer-predisposing syndrome [RCV000569767] Chr5:112843067 [GRCh38]
Chr5:112178764 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5542C>A (p.Pro1848Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767151]|Hereditary cancer-predisposing syndrome [RCV000569844] Chr5:112841136 [GRCh38]
Chr5:112176833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.130G>C (p.Ala44Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742633] Chr5:112707847 [GRCh38]
Chr5:112043544 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30487T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742659] Chr5:112707457 [GRCh38]
Chr5:112043154 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2346G>A (p.Lys782=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742606]|Hereditary cancer-predisposing syndrome [RCV001015245]|not specified [RCV000779715] Chr5:112837940 [GRCh38]
Chr5:112173637 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NC_000005.10:g.(?_112737024)_(112844132_?)del deletion Familial adenomatous polyposis 1 [RCV000560788] Chr5:112737024..112844132 [GRCh38]
Chr5:112072721..112179829 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7419T>A (p.Ser2473=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232179]|Hereditary cancer-predisposing syndrome [RCV000572786] Chr5:112843013 [GRCh38]
Chr5:112178710 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5314C>T (p.Pro1772Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537160]|Hereditary cancer-predisposing syndrome [RCV000572789] Chr5:112840908 [GRCh38]
Chr5:112176605 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5736T>A (p.Ala1912=) single nucleotide variant not specified [RCV000616704] Chr5:112841330 [GRCh38]
Chr5:112177027 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-140C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002526229]|not provided [RCV000762155] Chr5:112707578 [GRCh38]
Chr5:112043275 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6739T>C (p.Ser2247Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742768] Chr5:112842333 [GRCh38]
Chr5:112178030 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5474A>G (p.Asp1825Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767246]|Hereditary cancer-predisposing syndrome [RCV000570073] Chr5:112841068 [GRCh38]
Chr5:112176765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835G>T (p.Gly279Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537112]|Hereditary cancer-predisposing syndrome [RCV000570119]|not provided [RCV000759451]|not specified [RCV002298676] Chr5:112815495 [GRCh38]
Chr5:112151192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7271C>G (p.Ser2424Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335503]|Hereditary cancer-predisposing syndrome [RCV000570138] Chr5:112842865 [GRCh38]
Chr5:112178562 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8392A>G (p.Thr2798Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570144] Chr5:112843986 [GRCh38]
Chr5:112179683 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7744del (p.Glu2582fs) deletion Hereditary cancer-predisposing syndrome [RCV000572826] Chr5:112843338 [GRCh38]
Chr5:112179035 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.798G>A (p.Val266=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537106]|Hereditary cancer-predisposing syndrome [RCV000572839]|not provided [RCV003478242] Chr5:112801347 [GRCh38]
Chr5:112137044 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3478A>G (p.Thr1160Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537176]|Hereditary cancer-predisposing syndrome [RCV000572880] Chr5:112839072 [GRCh38]
Chr5:112174769 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4188T>A (p.Phe1396Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003153740]|Hereditary cancer-predisposing syndrome [RCV000572896] Chr5:112839782 [GRCh38]
Chr5:112175479 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7446A>C (p.Pro2482=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653231]|Hereditary cancer-predisposing syndrome [RCV002385949]|not specified [RCV000610713] Chr5:112843040 [GRCh38]
Chr5:112178737 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+18A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538402]|Hereditary cancer-predisposing syndrome [RCV001184712]|not specified [RCV000610853] Chr5:112828024 [GRCh38]
Chr5:112163721 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.422+16A>T single nucleotide variant not specified [RCV000613628] Chr5:112767406 [GRCh38]
Chr5:112103103 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7221T>G (p.Gly2407=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002232719]|Hereditary cancer-predisposing syndrome [RCV002377245]|not specified [RCV000613675] Chr5:112842815 [GRCh38]
Chr5:112178512 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7425T>C (p.Thr2475=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744609]|Hereditary cancer-predisposing syndrome [RCV002255476]|not specified [RCV000616808] Chr5:112843019 [GRCh38]
Chr5:112178716 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6838T>C (p.Ser2280Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767037]|Hereditary cancer-predisposing syndrome [RCV001805185] Chr5:112842432 [GRCh38]
Chr5:112178129 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-166C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002526233] Chr5:112707552 [GRCh38]
Chr5:112043249 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30632C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537064] Chr5:112707312 [GRCh38]
Chr5:112043009 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.5(APC):c.-30577A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742664] Chr5:112707367 [GRCh38]
Chr5:112043064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7142A>C (p.Gln2381Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767149]|Hereditary cancer-predisposing syndrome [RCV000573052] Chr5:112842736 [GRCh38]
Chr5:112178433 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4770del (p.Ala1591fs) deletion Hereditary cancer-predisposing syndrome [RCV000573063] Chr5:112840362 [GRCh38]
Chr5:112176059 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2347G>A (p.Ala783Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537125]|Hereditary cancer-predisposing syndrome [RCV000573117] Chr5:112837941 [GRCh38]
Chr5:112173638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-10T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538405]|not specified [RCV000610997] Chr5:112834941 [GRCh38]
Chr5:112170638 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28674G>A single nucleotide variant not specified [RCV000611019] Chr5:112737652 [GRCh38]
Chr5:112073349 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-150G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742651] Chr5:112707568 [GRCh38]
Chr5:112043265 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-55C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537043] Chr5:112707663 [GRCh38]
Chr5:112043360 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6493C>T (p.Pro2165Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537135]|Hereditary cancer-predisposing syndrome [RCV000573164] Chr5:112842087 [GRCh38]
Chr5:112177784 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4714A>T (p.Ile1572Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000806673]|Hereditary cancer-predisposing syndrome [RCV000573193]|not specified [RCV001194205] Chr5:112840308 [GRCh38]
Chr5:112176005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8400T>G (p.Ala2800=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002256404]|not specified [RCV000606244] Chr5:112843994 [GRCh38]
Chr5:112179691 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6640A>C (p.Lys2214Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537152]|Hereditary cancer-predisposing syndrome [RCV000570625] Chr5:112842234 [GRCh38]
Chr5:112177931 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3948T>C (p.Ala1316=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744566]|Hereditary cancer-predisposing syndrome [RCV000570649] Chr5:112839542 [GRCh38]
Chr5:112175239 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30532A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742661] Chr5:112707412 [GRCh38]
Chr5:112043109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7877C>A (p.Thr2626Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003459412]|Familial adenomatous polyposis 1 [RCV003652052]|Hereditary cancer-predisposing syndrome [RCV000570752] Chr5:112843471 [GRCh38]
Chr5:112179168 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4003A>G (p.Ser1335Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570806] Chr5:112839597 [GRCh38]
Chr5:112175294 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1461G>A (p.Gly487=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002231600]|Hereditary cancer-predisposing syndrome [RCV000570855] Chr5:112827160 [GRCh38]
Chr5:112162857 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6463G>A (p.Glu2155Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537080]|Hereditary cancer-predisposing syndrome [RCV002367892] Chr5:112842057 [GRCh38]
Chr5:112177754 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.869G>A (p.Ser290Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537093]|Hereditary cancer-predisposing syndrome [RCV001018199]|not provided [RCV001755856] Chr5:112815529 [GRCh38]
Chr5:112151226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8511T>C (p.Ser2837=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537107]|Hereditary cancer-predisposing syndrome [RCV000573462]|not provided [RCV000679093] Chr5:112844105 [GRCh38]
Chr5:112179802 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5098G>A (p.Ala1700Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767216]|Hereditary cancer-predisposing syndrome [RCV000573523] Chr5:112840692 [GRCh38]
Chr5:112176389 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4294C>A (p.Pro1432Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745574]|Hereditary cancer-predisposing syndrome [RCV003278265] Chr5:112839888 [GRCh38]
Chr5:112175585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2781T>G (p.Ala927=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278270] Chr5:112838375 [GRCh38]
Chr5:112174072 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6468A>G (p.Glu2156=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278273] Chr5:112842062 [GRCh38]
Chr5:112177759 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7562G>T (p.Arg2521Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278292] Chr5:112843156 [GRCh38]
Chr5:112178853 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8442G>T (p.Lys2814Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278293] Chr5:112844036 [GRCh38]
Chr5:112179733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8313T>G (p.Ser2771Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278302] Chr5:112843907 [GRCh38]
Chr5:112179604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7728T>G (p.Ala2576=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278305] Chr5:112843322 [GRCh38]
Chr5:112179019 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1498T>C (p.Tyr500His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538410]|Hereditary cancer-predisposing syndrome [RCV002395626]|not specified [RCV000611498] Chr5:112827197 [GRCh38]
Chr5:112162894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5201A>C (p.Lys1734Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653233]|Hereditary cancer-predisposing syndrome [RCV002334021]|not specified [RCV000611550] Chr5:112840795 [GRCh38]
Chr5:112176492 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.592G>A (p.Val198Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529343]|Hereditary cancer-predisposing syndrome [RCV001024694]|not specified [RCV000614285] Chr5:112780850 [GRCh38]
Chr5:112116547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4546A>G (p.Ile1516Val) single nucleotide variant not specified [RCV000614367] Chr5:112840140 [GRCh38]
Chr5:112175837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7815A>C (p.Gln2605His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537087]|Hereditary cancer-predisposing syndrome [RCV001026842] Chr5:112843409 [GRCh38]
Chr5:112179106 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4856C>A (p.Pro1619Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000535632]|Familial adenomatous polyposis 1 [RCV003742722]|Hereditary cancer-predisposing syndrome [RCV000580776] Chr5:112840450 [GRCh38]
Chr5:112176147 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7764T>A (p.Asp2588Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742796] Chr5:112843358 [GRCh38]
Chr5:112179055 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4201A>G (p.Ile1401Val) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155475]|Familial adenomatous polyposis 1 [RCV002528514]|Familial adenomatous polyposis 1 [RCV003742703]|Hereditary cancer-predisposing syndrome [RCV001022043] Chr5:112839795 [GRCh38]
Chr5:112175492 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-204A>G single nucleotide variant APC-related condition [RCV003935480]|Desmoid disease, hereditary [RCV000764556]|Familial adenomatous polyposis 1 [RCV003742655] Chr5:112707514 [GRCh38]
Chr5:112043211 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.5(APC):c.-30526A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537058] Chr5:112707418 [GRCh38]
Chr5:112043115 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8006C>G (p.Pro2669Arg) single nucleotide variant APC-related condition [RCV003403364]|Familial adenomatous polyposis 1 [RCV003459407]|Hereditary cancer-predisposing syndrome [RCV000571058]|not specified [RCV003235295] Chr5:112843600 [GRCh38]
Chr5:112179297 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3371A>G (p.Asn1124Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742679]|Hereditary cancer-predisposing syndrome [RCV003338658] Chr5:112838965 [GRCh38]
Chr5:112174662 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2678A>T (p.Glu893Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537185]|Hereditary cancer-predisposing syndrome [RCV000573559] Chr5:112838272 [GRCh38]
Chr5:112173969 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2760T>C (p.Asn920=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767612]|Hereditary cancer-predisposing syndrome [RCV001016525]|not specified [RCV000611729] Chr5:112838354 [GRCh38]
Chr5:112174051 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4885C>G (p.His1629Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538412]|Hereditary cancer-predisposing syndrome [RCV000775332]|not provided [RCV001755994]|not specified [RCV000614441] Chr5:112840479 [GRCh38]
Chr5:112176176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-126G>A single nucleotide variant APC-related condition [RCV003900200]|Familial adenomatous polyposis 1 [RCV003742646]|Hereditary cancer-predisposing syndrome [RCV001805183] Chr5:112707592 [GRCh38]
Chr5:112043289 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.5(APC):c.-30555A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002232314] Chr5:112707389 [GRCh38]
Chr5:112043086 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.5299G>C (p.Gly1767Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652040]|Hereditary cancer-predisposing syndrome [RCV000571242] Chr5:112840893 [GRCh38]
Chr5:112176590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30626C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537063] Chr5:112707318 [GRCh38]
Chr5:112043015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1875G>A (p.Gln625=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573770] Chr5:112835082 [GRCh38]
Chr5:112170779 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.735A>C (p.Ser245=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652001]|Hereditary cancer-predisposing syndrome [RCV000573801] Chr5:112801284 [GRCh38]
Chr5:112136981 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.732G>A (p.Arg244=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538404]|Hereditary cancer-predisposing syndrome [RCV001026281]|not provided [RCV001712687] Chr5:112801281 [GRCh38]
Chr5:112136978 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.137C>T (p.Thr46Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538397]|not specified [RCV000614706] Chr5:112707854 [GRCh38]
Chr5:112043551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.74_75del (p.Gln25fs) deletion Desmoid disease, hereditary [RCV002497160]|Familial adenomatous polyposis 1 [RCV003335473]|Familial adenomatous polyposis 1 [RCV003742784]|Hereditary cancer-predisposing syndrome [RCV002384184]|not provided [RCV000657188] Chr5:112754964..112754965 [GRCh38]
Chr5:112090661..112090662 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.48T>G (p.Ser16=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537040] Chr5:112707765 [GRCh38]
Chr5:112043462 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.163_164insG (p.Ile55fs) insertion Familial adenomatous polyposis 1 [RCV002530349]|Familial adenomatous polyposis 1 [RCV003652045]|Hereditary cancer-predisposing syndrome [RCV000571383] Chr5:112766353..112766354 [GRCh38]
Chr5:112102050..112102051 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7622T>C (p.Ile2541Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537101]|Hereditary cancer-predisposing syndrome [RCV000571408]|not provided [RCV001284370] Chr5:112843216 [GRCh38]
Chr5:112178913 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7831A>T (p.Thr2611Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571446] Chr5:112843425 [GRCh38]
Chr5:112179122 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2923A>G (p.Lys975Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002529025]|Hereditary cancer-predisposing syndrome [RCV000573853]|not specified [RCV001193500] Chr5:112838517 [GRCh38]
Chr5:112174214 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1631T>A (p.Ile544Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573854] Chr5:112828860 [GRCh38]
Chr5:112164557 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4838del (p.Pro1613fs) deletion Hereditary cancer-predisposing syndrome [RCV003311052] Chr5:112840431 [GRCh38]
Chr5:112176128 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6918T>C (p.Asp2306=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311054] Chr5:112842512 [GRCh38]
Chr5:112178209 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.189T>C (p.Ser63=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745580]|Hereditary cancer-predisposing syndrome [RCV003311058] Chr5:112766379 [GRCh38]
Chr5:112102076 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7289A>C (p.Asp2430Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767451]|not specified [RCV000612015] Chr5:112842883 [GRCh38]
Chr5:112178580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7407T>C (p.Ser2469=) single nucleotide variant APC-related condition [RCV003980180]|Familial adenomatous polyposis 1 [RCV003538407]|Hereditary cancer-predisposing syndrome [RCV002385945]|not specified [RCV000612046] Chr5:112843001 [GRCh38]
Chr5:112178698 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6631G>T (p.Gly2211Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311056] Chr5:112842225 [GRCh38]
Chr5:112177922 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6878G>C (p.Gly2293Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311060] Chr5:112842472 [GRCh38]
Chr5:112178169 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.260T>C (p.Leu87Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742614] Chr5:112767228 [GRCh38]
Chr5:112102925 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.718A>G (p.Thr240Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767145]|Hereditary cancer-predisposing syndrome [RCV000571481] Chr5:112792518 [GRCh38]
Chr5:112128215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4479_4480delinsAA (p.Glu1494Lys) indel Familial adenomatous polyposis 1 [RCV003742712] Chr5:112840073..112840074 [GRCh38]
Chr5:112175770..112175771 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.392C>G (p.Thr131Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537118]|Hereditary cancer-predisposing syndrome [RCV000571547] Chr5:112767360 [GRCh38]
Chr5:112103057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6446A>G (p.His2149Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652035]|Hereditary cancer-predisposing syndrome [RCV000571552] Chr5:112842040 [GRCh38]
Chr5:112177737 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4906dup (p.Asp1636fs) duplication Familial adenomatous polyposis 1 [RCV003742723] Chr5:112840495..112840496 [GRCh38]
Chr5:112176192..112176193 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.307G>T (p.Val103Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767166]|Hereditary cancer-predisposing syndrome [RCV000571583] Chr5:112767275 [GRCh38]
Chr5:112102972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8228A>G (p.Asn2743Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767148]|Hereditary cancer-predisposing syndrome [RCV000573977] Chr5:112843822 [GRCh38]
Chr5:112179519 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.5(APC):c.-30502C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742660] Chr5:112707442 [GRCh38]
Chr5:112043139 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3393AGA[1] (p.Glu1132del) microsatellite Familial adenomatous polyposis 1 [RCV003538415]|Hereditary cancer-predisposing syndrome [RCV002458097] Chr5:112838986..112838988 [GRCh38]
Chr5:112174683..112174685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1865A>T (p.Tyr622Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538416] Chr5:112835072 [GRCh38]
Chr5:112170769 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4462T>G (p.Leu1488Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538417]|Hereditary cancer-predisposing syndrome [RCV001022520]|not specified [RCV001797771] Chr5:112840056 [GRCh38]
Chr5:112175753 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7066A>C (p.Thr2356Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538418]|Hereditary cancer-predisposing syndrome [RCV003162934] Chr5:112842660 [GRCh38]
Chr5:112178357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5733A>C (p.Gln1911His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744612]|Hereditary cancer-predisposing syndrome [RCV001180390] Chr5:112841327 [GRCh38]
Chr5:112177024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2842T>C (p.Ser948Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538428] Chr5:112838436 [GRCh38]
Chr5:112174133 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3289G>C (p.Glu1097Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538431] Chr5:112838883 [GRCh38]
Chr5:112174580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4306A>G (p.Ser1436Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538432]|Hereditary cancer-predisposing syndrome [RCV002331202] Chr5:112839900 [GRCh38]
Chr5:112175597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.637C>G (p.Arg213Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235190]|Hereditary cancer-predisposing syndrome [RCV002358844] Chr5:112780895 [GRCh38]
Chr5:112116592 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6779G>T (p.Ser2260Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538433]|Hereditary cancer-predisposing syndrome [RCV002360600] Chr5:112842373 [GRCh38]
Chr5:112178070 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3638C>T (p.Ser1213Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538443]|Hereditary cancer-predisposing syndrome [RCV001187685] Chr5:112839232 [GRCh38]
Chr5:112174929 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4019C>G (p.Ser1340Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530036]|Hereditary cancer-predisposing syndrome [RCV002358845] Chr5:112839613 [GRCh38]
Chr5:112175310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.790C>G (p.Gln264Glu) single nucleotide variant APC-related condition [RCV003420134]|Familial adenomatous polyposis 1 [RCV003538447]|Hereditary cancer-predisposing syndrome [RCV002422349] Chr5:112801339 [GRCh38]
Chr5:112137036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000646339]|Familial adenomatous polyposis 1 [RCV003316780]|Hereditary cancer-predisposing syndrome [RCV002458098]|not specified [RCV001001452] Chr5:112839117 [GRCh38]
Chr5:112174814 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7358GAA[1] (p.Arg2454del) microsatellite Familial adenomatous polyposis 1 [RCV003538448]|Hereditary cancer-predisposing syndrome [RCV001190907] Chr5:112842950..112842952 [GRCh38]
Chr5:112178647..112178649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8119G>T (p.Gly2707Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538449] Chr5:112843713 [GRCh38]
Chr5:112179410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1369T>G (p.Ser457Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767863]|Hereditary cancer-predisposing syndrome [RCV002386081] Chr5:112821952 [GRCh38]
Chr5:112157649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.180G>A (p.Met60Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538450]|Hereditary cancer-predisposing syndrome [RCV002406421] Chr5:112766370 [GRCh38]
Chr5:112102067 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8149G>T (p.Gly2717Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538451] Chr5:112843743 [GRCh38]
Chr5:112179440 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7006A>G (p.Ile2336Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538452]|Hereditary cancer-predisposing syndrome [RCV001187687] Chr5:112842600 [GRCh38]
Chr5:112178297 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2494C>G (p.Pro832Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530041]|Hereditary cancer-predisposing syndrome [RCV001185030]|not provided [RCV003237972] Chr5:112838088 [GRCh38]
Chr5:112173785 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5059C>T (p.Arg1687Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538453] Chr5:112840653 [GRCh38]
Chr5:112176350 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1102_1103del (p.Val368fs) deletion Familial adenomatous polyposis 1 [RCV003337327]|Hereditary cancer-predisposing syndrome [RCV001017313] Chr5:112819133..112819134 [GRCh38]
Chr5:112154830..112154831 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1903G>T (p.Gly635Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533282]|Familial adenomatous polyposis 1 [RCV003538454] Chr5:112835110 [GRCh38]
Chr5:112170807 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.693A>G (p.Ile231Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538455]|Hereditary cancer-predisposing syndrome [RCV002360602] Chr5:112792493 [GRCh38]
Chr5:112128190 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.274T>G (p.Ser92Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538459]|Hereditary cancer-predisposing syndrome [RCV001016496] Chr5:112767242 [GRCh38]
Chr5:112102939 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.14del (p.Ser5fs) deletion Familial adenomatous polyposis 1 [RCV003336111]|Hereditary cancer-predisposing syndrome [RCV002388109] Chr5:112754904 [GRCh38]
Chr5:112090601 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2904T>A (p.Ser968Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538462] Chr5:112838498 [GRCh38]
Chr5:112174195 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7009A>C (p.Ser2337Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538463]|Hereditary cancer-predisposing syndrome [RCV001025917]|not provided [RCV001800838] Chr5:112842603 [GRCh38]
Chr5:112178300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.499A>G (p.Lys167Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538439]|Hereditary cancer-predisposing syndrome [RCV001524942] Chr5:112775705 [GRCh38]
Chr5:112111402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3167T>C (p.Ile1056Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538438]|Hereditary cancer-predisposing syndrome [RCV002325274] Chr5:112838761 [GRCh38]
Chr5:112174458 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4552A>G (p.Lys1518Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653237]|Hereditary cancer-predisposing syndrome [RCV001190908]|not specified [RCV003320718] Chr5:112840146 [GRCh38]
Chr5:112175843 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3353A>G (p.Asn1118Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533277]|Hereditary cancer-predisposing syndrome [RCV002325272] Chr5:112838947 [GRCh38]
Chr5:112174644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5479C>G (p.Leu1827Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538436] Chr5:112841073 [GRCh38]
Chr5:112176770 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1571G>A (p.Gly524Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530050]|Familial adenomatous polyposis 1 [RCV003538466]|Hereditary cancer-predisposing syndrome [RCV001012236]|not specified [RCV002268233] Chr5:112827951 [GRCh38]
Chr5:112163648 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7285T>C (p.Ser2429Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533286]|Hereditary cancer-predisposing syndrome [RCV003303050] Chr5:112842879 [GRCh38]
Chr5:112178576 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.599T>A (p.Met200Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538467] Chr5:112780857 [GRCh38]
Chr5:112116554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4286A>G (p.Gln1429Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538468]|Hereditary cancer-predisposing syndrome [RCV001022211] Chr5:112839880 [GRCh38]
Chr5:112175577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4879C>A (p.Gln1627Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538479]|Hereditary cancer-predisposing syndrome [RCV002334155]|not specified [RCV003987643] Chr5:112840473 [GRCh38]
Chr5:112176170 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.164T>C (p.Ile55Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538480] Chr5:112766354 [GRCh38]
Chr5:112102051 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1411G>A (p.Gly471Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538481]|Hereditary cancer-predisposing syndrome [RCV001011470] Chr5:112827110 [GRCh38]
Chr5:112162807 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6298G>T (p.Asp2100Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538483]|Hereditary cancer-predisposing syndrome [RCV001187688]|not provided [RCV001766390] Chr5:112841892 [GRCh38]
Chr5:112177589 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.893A>G (p.His298Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538485] Chr5:112815553 [GRCh38]
Chr5:112151250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4378G>T (p.Ala1460Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530395] Chr5:112839972 [GRCh38]
Chr5:112175669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7823C>G (p.Ala2608Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538486]|not provided [RCV001775938] Chr5:112843417 [GRCh38]
Chr5:112179114 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-2A>G single nucleotide variant Familial multiple polyposis syndrome [RCV000606942]|Hereditary cancer-predisposing syndrome [RCV002395627]|not provided [RCV003478330] Chr5:112827106 [GRCh38]
Chr5:112162803 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.942G>T (p.Met314Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538408]|Hereditary cancer-predisposing syndrome [RCV001019339]|not provided [RCV002307560]|not specified [RCV000603586] Chr5:112818974 [GRCh38]
Chr5:112154671 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7157A>G (p.Lys2386Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767864]|Hereditary cancer-predisposing syndrome [RCV002360603] Chr5:112842751 [GRCh38]
Chr5:112178448 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2180G>A (p.Arg727Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653239] Chr5:112837774 [GRCh38]
Chr5:112173471 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003337330] Chr5:112828008 [GRCh38]
Chr5:112163705 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1354_1355del (p.Val452fs) microsatellite Familial adenomatous polyposis 1 [RCV002530402]|Familial adenomatous polyposis 1 [RCV003336113]|Hereditary cancer-predisposing syndrome [RCV001011139] Chr5:112821930..112821931 [GRCh38]
Chr5:112157627..112157628 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3364A>C (p.Asn1122His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538494] Chr5:112838958 [GRCh38]
Chr5:112174655 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+5_531+8del microsatellite Familial adenomatous polyposis 1 [RCV003538495] Chr5:112775738..112775741 [GRCh38]
Chr5:112111435..112111438 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5656G>C (p.Glu1886Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538496]|Hereditary cancer-predisposing syndrome [RCV001024374]|not provided [RCV001550473] Chr5:112841250 [GRCh38]
Chr5:112176947 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6074G>C (p.Ser2025Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538499] Chr5:112841668 [GRCh38]
Chr5:112177365 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4638_4642del (p.Asn1546fs) deletion Familial adenomatous polyposis 1 [RCV003336114]|Hereditary cancer-predisposing syndrome [RCV001186212] Chr5:112840229..112840233 [GRCh38]
Chr5:112175926..112175930 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7438C>T (p.Gln2480Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538505]|Hereditary cancer-predisposing syndrome [RCV001026436] Chr5:112843032 [GRCh38]
Chr5:112178729 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5854C>G (p.Gln1952Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538474]|Hereditary cancer-predisposing syndrome [RCV001024603] Chr5:112841448 [GRCh38]
Chr5:112177145 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.1639G>A (p.Val547Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538473]|Hereditary cancer-predisposing syndrome [RCV001805779] Chr5:112828868 [GRCh38]
Chr5:112164565 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7424C>T (p.Thr2475Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538472]|Hereditary cancer-predisposing syndrome [RCV001191936] Chr5:112843018 [GRCh38]
Chr5:112178715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6583_6587delinsAT (p.Tyr2195_Lys2196delinsIle) indel Familial adenomatous polyposis 1 [RCV000646400] Chr5:112842177..112842181 [GRCh38]
Chr5:112177874..112177878 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2369_2370dup (p.His791fs) microsatellite Familial adenomatous polyposis 1 [RCV003538471] Chr5:112837959..112837960 [GRCh38]
Chr5:112173656..112173657 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2249C>T (p.Pro750Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538514] Chr5:112837843 [GRCh38]
Chr5:112173540 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8140C>G (p.Arg2714Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538515]|Hereditary cancer-predisposing syndrome [RCV002422350] Chr5:112843734 [GRCh38]
Chr5:112179431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4898C>A (p.Thr1633Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653240]|Hereditary cancer-predisposing syndrome [RCV002331204]|not provided [RCV003886425] Chr5:112840492 [GRCh38]
Chr5:112176189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2792A>G (p.His931Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538520]|Hereditary cancer-predisposing syndrome [RCV001191937] Chr5:112838386 [GRCh38]
Chr5:112174083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2415dup (p.His806fs) duplication Familial adenomatous polyposis 1 [RCV003538521] Chr5:112838008..112838009 [GRCh38]
Chr5:112173705..112173706 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6112C>G (p.Leu2038Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767866]|Hereditary cancer-predisposing syndrome [RCV000773299] Chr5:112841706 [GRCh38]
Chr5:112177403 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6146A>G (p.Lys2049Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538522] Chr5:112841740 [GRCh38]
Chr5:112177437 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8154G>T (p.Leu2718Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538523]|Hereditary cancer-predisposing syndrome [RCV001191938]|not provided [RCV003322804] Chr5:112843748 [GRCh38]
Chr5:112179445 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8264C>G (p.Ser2755Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538524]|Hereditary cancer-predisposing syndrome [RCV001027337] Chr5:112843858 [GRCh38]
Chr5:112179555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538525] Chr5:112780788 [GRCh38]
Chr5:112116485 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4330C>G (p.Gln1444Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538526]|Hereditary cancer-predisposing syndrome [RCV001022308] Chr5:112839924 [GRCh38]
Chr5:112175621 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8303_8306del (p.Ser2768fs) deletion Familial adenomatous polyposis 1 [RCV002530422] Chr5:112843894..112843897 [GRCh38]
Chr5:112179591..112179594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8089T>A (p.Ser2697Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538527]|Hereditary cancer-predisposing syndrome [RCV002422351] Chr5:112843683 [GRCh38]
Chr5:112179380 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3604_3607del (p.Ser1202fs) deletion Familial adenomatous polyposis 1 [RCV002533305] Chr5:112839198..112839201 [GRCh38]
Chr5:112174895..112174898 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5474A>T (p.Asp1825Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235221] Chr5:112841068 [GRCh38]
Chr5:112176765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-126G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653241]|Hereditary cancer-predisposing syndrome [RCV003584692]|not provided [RCV001561386] Chr5:112707592 [GRCh38]
Chr5:112043289 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.5(APC):c.-30611G>T single nucleotide variant APC-related condition [RCV003892464]|Familial adenomatous polyposis 1 [RCV000646547] Chr5:112707333 [GRCh38]
Chr5:112043030 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.155G>C (p.Ser52Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538539] Chr5:112707872 [GRCh38]
Chr5:112043569 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744616]|Hereditary cancer-predisposing syndrome [RCV002258988] Chr5:112707883 [GRCh38]
Chr5:112043580 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.8436C>T (p.Asn2812=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538540]|Hereditary cancer-predisposing syndrome [RCV001017771] Chr5:112844030 [GRCh38]
Chr5:112179727 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4209C>T (p.Ser1403=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538542]|Hereditary cancer-predisposing syndrome [RCV001022054] Chr5:112839803 [GRCh38]
Chr5:112175500 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4017T>C (p.Gly1339=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538543]|Hereditary cancer-predisposing syndrome [RCV002369718] Chr5:112839611 [GRCh38]
Chr5:112175308 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.91A>C (p.Arg31=) single nucleotide variant APC-related condition [RCV003892465]|Familial adenomatous polyposis 1 [RCV003538544] Chr5:112707808 [GRCh38]
Chr5:112043505 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.123G>T (p.Pro41=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538545] Chr5:112707840 [GRCh38]
Chr5:112043537 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-110C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002530440] Chr5:112707608 [GRCh38]
Chr5:112043305 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5409A>G (p.Arg1803=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235229]|Hereditary cancer-predisposing syndrome [RCV001024055] Chr5:112841003 [GRCh38]
Chr5:112176700 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.99C>T (p.Cys33=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234064] Chr5:112707816 [GRCh38]
Chr5:112043513 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.154A>G (p.Ser52Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538547] Chr5:112707871 [GRCh38]
Chr5:112043568 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30501A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744617] Chr5:112707443 [GRCh38]
Chr5:112043140 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.136A>C (p.Thr46Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538550] Chr5:112707853 [GRCh38]
Chr5:112043550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30484C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744618] Chr5:112707460 [GRCh38]
Chr5:112043157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6738T>A (p.Val2246=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538553] Chr5:112842332 [GRCh38]
Chr5:112178029 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3693C>T (p.Leu1231=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234070]|Hereditary cancer-predisposing syndrome [RCV001191942] Chr5:112839287 [GRCh38]
Chr5:112174984 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-108C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744620] Chr5:112707610 [GRCh38]
Chr5:112043307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-145C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744621] Chr5:112707573 [GRCh38]
Chr5:112043270 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3150A>G (p.Ala1050=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528189]|Hereditary cancer-predisposing syndrome [RCV000777152] Chr5:112838744 [GRCh38]
Chr5:112174441 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-177T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538562] Chr5:112707541 [GRCh38]
Chr5:112043238 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5526A>G (p.Ser1842=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538563]|Hereditary cancer-predisposing syndrome [RCV001024223] Chr5:112841120 [GRCh38]
Chr5:112176817 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30500T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002533321] Chr5:112707444 [GRCh38]
Chr5:112043141 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+3G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538564] Chr5:112707885 [GRCh38]
Chr5:112043582 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5067C>G (p.Thr1689=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538565] Chr5:112840661 [GRCh38]
Chr5:112176358 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-132G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538566] Chr5:112707586 [GRCh38]
Chr5:112043283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.12C>T (p.Ser4=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538567] Chr5:112707729 [GRCh38]
Chr5:112043426 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1155A>C (p.Ala385=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538571] Chr5:112819187 [GRCh38]
Chr5:112154884 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-156C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002528192] Chr5:112707562 [GRCh38]
Chr5:112043259 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30543C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538580] Chr5:112707401 [GRCh38]
Chr5:112043098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-213A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538581] Chr5:112707505 [GRCh38]
Chr5:112043202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.66C>T (p.Leu22=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538582] Chr5:112707783 [GRCh38]
Chr5:112043480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-18C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002533329] Chr5:112707700 [GRCh38]
Chr5:112043397 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.123G>A (p.Pro41=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234661] Chr5:112707840 [GRCh38]
Chr5:112043537 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1680A>G (p.Lys560=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538583] Chr5:112828909 [GRCh38]
Chr5:112164606 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30487T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538584] Chr5:112707457 [GRCh38]
Chr5:112043154 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538585] Chr5:112707584 [GRCh38]
Chr5:112043281 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30585G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000646645] Chr5:112707359 [GRCh38]
Chr5:112043056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.39G>A (p.Leu13=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538586] Chr5:112707756 [GRCh38]
Chr5:112043453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6921G>C (p.Ser2307=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234665]|Hereditary cancer-predisposing syndrome [RCV002256443] Chr5:112842515 [GRCh38]
Chr5:112178212 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+16G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653246] Chr5:112707898 [GRCh38]
Chr5:112043595 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.2094A>G (p.Leu698=) single nucleotide variant APC-related condition [RCV003945635]|Familial adenomatous polyposis 1 [RCV003534531]|Hereditary cancer-predisposing syndrome [RCV001014408]|not provided [RCV000759419] Chr5:112837688 [GRCh38]
Chr5:112173385 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001127511.3(APC):c.-125A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534532]|not provided [RCV003233791] Chr5:112707593 [GRCh38]
Chr5:112043290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.119G>A (p.Ser40Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653247] Chr5:112707836 [GRCh38]
Chr5:112043533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1632T>C (p.Ile544=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528199]|Hereditary cancer-predisposing syndrome [RCV001012505] Chr5:112828861 [GRCh38]
Chr5:112164558 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-39T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534536] Chr5:112707679 [GRCh38]
Chr5:112043376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30532A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534537] Chr5:112707412 [GRCh38]
Chr5:112043109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2931T>G (p.Gly977=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530473]|Hereditary cancer-predisposing syndrome [RCV002440327] Chr5:112838525 [GRCh38]
Chr5:112174222 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30586C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653251] Chr5:112707358 [GRCh38]
Chr5:112043055 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1026C>T (p.Asp342=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534538]|Hereditary cancer-predisposing syndrome [RCV003162936] Chr5:112819058 [GRCh38]
Chr5:112154755 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.134G>C (p.Arg45Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534539] Chr5:112707851 [GRCh38]
Chr5:112043548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.753A>G (p.Glu251=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767871] Chr5:112801302 [GRCh38]
Chr5:112136999 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2073T>C (p.Asn691=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534540]|Hereditary cancer-predisposing syndrome [RCV002422352]|not provided [RCV001559061] Chr5:112837667 [GRCh38]
Chr5:112173364 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5025T>C (p.Val1675=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534541] Chr5:112840619 [GRCh38]
Chr5:112176316 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30550A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003767872] Chr5:112707394 [GRCh38]
Chr5:112043091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5847A>G (p.Glu1949=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767873]|Hereditary cancer-predisposing syndrome [RCV001191943]|not provided [RCV001566972] Chr5:112841441 [GRCh38]
Chr5:112177138 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30492T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002530478] Chr5:112707452 [GRCh38]
Chr5:112043149 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.121C>G (p.Pro41Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767874] Chr5:112707838 [GRCh38]
Chr5:112043535 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-86G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653252] Chr5:112707632 [GRCh38]
Chr5:112043329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.723A>G (p.Glu241=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534543]|Hereditary cancer-predisposing syndrome [RCV000773300] Chr5:112792523 [GRCh38]
Chr5:112128220 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30535G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002533336] Chr5:112707409 [GRCh38]
Chr5:112043106 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112737024)_(112766416_?)del deletion Familial adenomatous polyposis 1 [RCV000646697] Chr5:112737024..112766416 [GRCh38]
Chr5:112072721..112102113 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112116481)_(112179829_?)dup duplication Familial adenomatous polyposis 1 [RCV000646698] Chr5:112780784..112844132 [GRCh38]
Chr5:112116481..112179829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112834945)_(112835171_?)del deletion Familial adenomatous polyposis 1 [RCV000646699] Chr5:112834945..112835171 [GRCh38]
Chr5:112170642..112170868 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1530T>C (p.Phe510=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003767737]|Hereditary cancer-predisposing syndrome [RCV001012034]|not specified [RCV000605274] Chr5:112827229 [GRCh38]
Chr5:112162926 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7818A>G (p.Val2606=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002530277]|Hereditary cancer-predisposing syndrome [RCV000561177] Chr5:112843412 [GRCh38]
Chr5:112179109 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5698C>T (p.Leu1900=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744565]|Hereditary cancer-predisposing syndrome [RCV000561936] Chr5:112841292 [GRCh38]
Chr5:112176989 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.458A>G (p.Lys153Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002528021]|Hereditary cancer-predisposing syndrome [RCV000561950] Chr5:112775664 [GRCh38]
Chr5:112111361 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30502C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003767023] Chr5:112707442 [GRCh38]
Chr5:112043139 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2033G>C (p.Ser678Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742594]|Hereditary cancer-predisposing syndrome [RCV002420479] Chr5:112837627 [GRCh38]
Chr5:112173324 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.(?_-37541)_(-27791_?)del deletion Familial multiple polyposis syndrome [RCV000588083] Chr5:112700403..112710153 [GRCh38]
Chr5:112036100..112045850 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.646-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002289884]|Familial adenomatous polyposis 1 [RCV002530879]|Familial adenomatous polyposis 1 [RCV003538393]|Familial multiple polyposis syndrome [RCV000588727]|Hereditary cancer-predisposing syndrome [RCV002367986] Chr5:112792444 [GRCh38]
Chr5:112128141 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4873del (p.Gln1625fs) deletion Familial adenomatous polyposis 1 [RCV003336083]|Familial multiple polyposis syndrome [RCV000589353] Chr5:112840467 [GRCh38]
Chr5:112176164 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3969T>A (p.Val1323=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003162748]|not specified [RCV000606549] Chr5:112839563 [GRCh38]
Chr5:112175260 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2417A>G (p.His806Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534689] Chr5:112838011 [GRCh38]
Chr5:112173708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2213A>G (p.Lys738Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534565]|Hereditary cancer-predisposing syndrome [RCV001014809] Chr5:112837807 [GRCh38]
Chr5:112173504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8229T>G (p.Asn2743Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534568]|Hereditary cancer-predisposing syndrome [RCV002424591] Chr5:112843823 [GRCh38]
Chr5:112179520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7817T>C (p.Val2606Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534663]|Hereditary cancer-predisposing syndrome [RCV003584720] Chr5:112843411 [GRCh38]
Chr5:112179108 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4687C>G (p.Leu1563Val) single nucleotide variant Neoplasm of the liver [RCV000677752] Chr5:112840281 [GRCh38]
Chr5:112175978 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2558A>G (p.Glu853Gly) single nucleotide variant Duodenal adenocarcinoma [RCV000677763]|Familial adenomatous polyposis 1 [RCV003744626] Chr5:112838152 [GRCh38]
Chr5:112173849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3160C>T (p.His1054Tyr) single nucleotide variant Rectum adenocarcinoma [RCV000677771] Chr5:112838754 [GRCh38]
Chr5:112174451 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2828C>A (p.Ser943Ter) single nucleotide variant Familial multiple polyposis syndrome [RCV000677773] Chr5:112838422 [GRCh38]
Chr5:112174119 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1463T>C (p.Leu488Pro) single nucleotide variant Colon adenocarcinoma [RCV000677774]|Hereditary cancer-predisposing syndrome [RCV002388186] Chr5:112827162 [GRCh38]
Chr5:112162859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3381G>C (p.Gln1127His) single nucleotide variant Carcinoma of colon [RCV000677776] Chr5:112838975 [GRCh38]
Chr5:112174672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2986A>G (p.Ser996Gly) single nucleotide variant Colon cancer [RCV000677777]|Familial adenomatous polyposis 1 [RCV003768025] Chr5:112838580 [GRCh38]
Chr5:112174277 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6893C>T (p.Ala2298Val) single nucleotide variant Carcinoma of colon [RCV000677789] Chr5:112842487 [GRCh38]
Chr5:112178184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-5C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000662776] Chr5:112707713 [GRCh38]
Chr5:112043410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-14_1744-13del deletion Familial adenomatous polyposis 1 [RCV000663147] Chr5:112834936..112834937 [GRCh38]
Chr5:112170633..112170634 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.386_387insT (p.Glu129fs) insertion Familial adenomatous polyposis 1 [RCV003336117]|not provided [RCV000657189] Chr5:112767354..112767355 [GRCh38]
Chr5:112103051..112103052 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4969_4970insG (p.Leu1657fs) insertion not provided [RCV000657311] Chr5:112840563..112840564 [GRCh38]
Chr5:112176260..112176261 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2507_2511delinsG (p.Ser835_Ser836insTer) indel not provided [RCV000657839] Chr5:112838101..112838105 [GRCh38]
Chr5:112173798..112173802 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1620del (p.Leu540fs) deletion Familial adenomatous polyposis 1 [RCV003337332]|not provided [RCV000657190] Chr5:112828000 [GRCh38]
Chr5:112163697 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1854_1869del (p.Thr619fs) deletion Familial adenomatous polyposis 1 [RCV003336119]|not provided [RCV000657191] Chr5:112835059..112835074 [GRCh38]
Chr5:112170756..112170771 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1377_1383del (p.Glu460fs) deletion not provided [RCV000657288] Chr5:112821960..112821966 [GRCh38]
Chr5:112157657..112157663 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4468del (p.His1490fs) deletion not provided [RCV000657415] Chr5:112840062 [GRCh38]
Chr5:112175759 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.149G>C (p.Trp50Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000662474] Chr5:112707866 [GRCh38]
Chr5:112043563 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+27del deletion Familial adenomatous polyposis 1 [RCV000662732]|Familial adenomatous polyposis 1 [RCV003316783] Chr5:112835189 [GRCh38]
Chr5:112170886 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.7891del (p.Ser2631fs) deletion not provided [RCV000657369] Chr5:112843483 [GRCh38]
Chr5:112179180 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1431dup (p.Leu478fs) duplication not provided [RCV000657512] Chr5:112827128..112827129 [GRCh38]
Chr5:112162825..112162826 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5350G>A (p.Glu1784Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534551]|Hereditary cancer-predisposing syndrome [RCV003163089] Chr5:112840944 [GRCh38]
Chr5:112176641 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3270A>C (p.Gln1090His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002532198]|Hereditary cancer-predisposing syndrome [RCV001805799] Chr5:112838864 [GRCh38]
Chr5:112174561 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs) deletion Familial adenomatous polyposis 1 [RCV000663172]|Familial adenomatous polyposis 1 [RCV003316793] Chr5:112841251..112841255 [GRCh38]
Chr5:112176948..112176952 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000662823]|Familial adenomatous polyposis 1 [RCV003316785] Chr5:112841263 [GRCh38]
Chr5:112176960 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.388del (p.Ser130fs) deletion Familial adenomatous polyposis 1 [RCV000662861]|Familial adenomatous polyposis 1 [RCV003316787]|Hereditary cancer-predisposing syndrome [RCV002352079] Chr5:112767354 [GRCh38]
Chr5:112103051 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_001127511.3(APC):c.134G>A (p.Arg45His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000662997]|Familial adenomatous polyposis 1 [RCV003653254] Chr5:112707851 [GRCh38]
Chr5:112043548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-14C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000662369]|Familial adenomatous polyposis 1 [RCV003653253] Chr5:112707704 [GRCh38]
Chr5:112043401 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-21C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000662900] Chr5:112818945 [GRCh38]
Chr5:112154642 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.1A>T (p.Met1Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000662980]|Familial adenomatous polyposis 1 [RCV002233092]|not specified [RCV003320721] Chr5:112707718 [GRCh38]
Chr5:112043415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1530dup (p.Gly511fs) duplication Familial adenomatous polyposis 1 [RCV000663045]|Familial adenomatous polyposis 1 [RCV003316790]|Familial multiple polyposis syndrome [RCV001824861] Chr5:112827225..112827226 [GRCh38]
Chr5:112162922..112162923 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5603ATG[5] (p.Asp1871dup) microsatellite Familial adenomatous polyposis 1 [RCV000663237]|Familial adenomatous polyposis 1 [RCV003316795] Chr5:112841194..112841195 [GRCh38]
Chr5:112176891..112176892 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2804A>G (p.Tyr935Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001868289]|Neoplasm of the liver [RCV000677747]|not provided [RCV002274086] Chr5:112838398 [GRCh38]
Chr5:112174095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4658C>T (p.Ala1553Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768023]|Klatskin tumor [RCV000677753] Chr5:112840252 [GRCh38]
Chr5:112175949 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2190G>A (p.Met730Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002531388]|Familial adenomatous polyposis 1 [RCV003534547]|Hereditary cancer-predisposing syndrome [RCV000773539]|Neoplasm of stomach [RCV000677761]|not provided [RCV001284235] Chr5:112837784 [GRCh38]
Chr5:112173481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4297C>T (p.Pro1433Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768024]|Neoplasm of the liver [RCV000677768] Chr5:112839891 [GRCh38]
Chr5:112175588 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8461G>A (p.Asp2821Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442402]|Intrahepatic cholangiocarcinoma [RCV000677770] Chr5:112844055 [GRCh38]
Chr5:112179752 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5478G>C (p.Lys1826Asn) single nucleotide variant Colon cancer [RCV000677739]|Familial adenomatous polyposis 1 [RCV003653258] Chr5:112841072 [GRCh38]
Chr5:112176769 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6994G>A (p.Gly2332Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768022]|Hereditary cancer-predisposing syndrome [RCV002360703]|Sigmoid colon cancer [RCV000677740] Chr5:112842588 [GRCh38]
Chr5:112178285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3716G>A (p.Arg1239Lys) single nucleotide variant Colon cancer [RCV000677743]|Familial adenomatous polyposis 1 [RCV002544686]|Familial adenomatous polyposis 1 [RCV003653259]|Hereditary cancer-predisposing syndrome [RCV000776254]|Neoplasm of the liver [RCV000677744]|not provided [RCV002462012] Chr5:112839310 [GRCh38]
Chr5:112175007 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7447G>A (p.Val2483Ile) single nucleotide variant Inborn genetic diseases [RCV003163074]|Neoplasm of stomach [RCV000677745] Chr5:112843041 [GRCh38]
Chr5:112178738 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5473G>T (p.Asp1825Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653260]|Gastrointestinal stromal tumor of small intestine [RCV000677750] Chr5:112841067 [GRCh38]
Chr5:112176764 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7172T>G (p.Ile2391Ser) single nucleotide variant Carcinoma of colon [RCV000677767]|Familial adenomatous polyposis 1 [RCV002531389]|Hereditary cancer-predisposing syndrome [RCV001026117] Chr5:112842766 [GRCh38]
Chr5:112178463 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6152A>G (p.Lys2051Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653261]|Rectum adenocarcinoma [RCV000677769] Chr5:112841746 [GRCh38]
Chr5:112177443 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7405T>C (p.Ser2469Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534678] Chr5:112842999 [GRCh38]
Chr5:112178696 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5961C>G (p.Ile1987Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002531437]|Hereditary cancer-predisposing syndrome [RCV003343987] Chr5:112841555 [GRCh38]
Chr5:112177252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3943T>A (p.Ser1315Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534681]|Hereditary cancer-predisposing syndrome [RCV002369913] Chr5:112839537 [GRCh38]
Chr5:112175234 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5098G>T (p.Ala1700Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534668]|Hereditary cancer-predisposing syndrome [RCV001183322] Chr5:112840692 [GRCh38]
Chr5:112176389 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2101A>T (p.Met701Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534683]|Hereditary cancer-predisposing syndrome [RCV002422561] Chr5:112837695 [GRCh38]
Chr5:112173392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.275C>G (p.Ser92Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544731]|Familial adenomatous polyposis 1 [RCV003534557]|Hereditary cancer-predisposing syndrome [RCV001016520]|Ovarian cancer [RCV003153800] Chr5:112767243 [GRCh38]
Chr5:112102940 [GRCh37]
Chr5:5q22.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1879A>C (p.Asn627His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534671]|not provided [RCV001775969] Chr5:112835086 [GRCh38]
Chr5:112170783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5238_5240del (p.Ile1746del) deletion Familial adenomatous polyposis 1 [RCV002533547]|Familial adenomatous polyposis 1 [RCV003534672]|Hereditary cancer-predisposing syndrome [RCV001187932] Chr5:112840830..112840832 [GRCh38]
Chr5:112176527..112176529 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4351G>A (p.Glu1451Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534674]|Hereditary cancer-predisposing syndrome [RCV000772912]|not provided [RCV001595034] Chr5:112839945 [GRCh38]
Chr5:112175642 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1682A>G (p.Lys561Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534684] Chr5:112828911 [GRCh38]
Chr5:112164608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1829del (p.Asp610fs) deletion Familial adenomatous polyposis 1 [RCV003336152] Chr5:112835036 [GRCh38]
Chr5:112170733 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3775A>G (p.Ile1259Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534563]|Hereditary cancer-predisposing syndrome [RCV002360717] Chr5:112839369 [GRCh38]
Chr5:112175066 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3207G>T (p.Arg1069Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534665]|not provided [RCV003238805]|not specified [RCV003320730] Chr5:112838801 [GRCh38]
Chr5:112174498 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1348G>T (p.Val450Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534567] Chr5:112821931 [GRCh38]
Chr5:112157628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6150_6151del (p.Lys2052fs) deletion Familial adenomatous polyposis 1 [RCV003459649]|not provided [RCV000679076] Chr5:112841743..112841744 [GRCh38]
Chr5:112177440..112177441 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.933+15C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003768033]|Hereditary cancer-predisposing syndrome [RCV000775124]|not provided [RCV000679094] Chr5:112815608 [GRCh38]
Chr5:112151305 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5908A>C (p.Ser1970Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534548]|Hereditary cancer-predisposing syndrome [RCV000777080]|not provided [RCV000679073] Chr5:112841502 [GRCh38]
Chr5:112177199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-3C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534549]|not provided [RCV000679420] Chr5:112707715 [GRCh38]
Chr5:112043412 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7154C>G (p.Ser2385Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534697]|Hereditary cancer-predisposing syndrome [RCV001026091] Chr5:112842748 [GRCh38]
Chr5:112178445 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7882C>G (p.Gln2628Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534569]|Hereditary cancer-predisposing syndrome [RCV002406544] Chr5:112843476 [GRCh38]
Chr5:112179173 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-4A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534698]|Hereditary cancer-predisposing syndrome [RCV001022105]|not provided [RCV003478436] Chr5:112775625 [GRCh38]
Chr5:112111322 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6539A>G (p.Lys2180Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768080]|Hereditary cancer-predisposing syndrome [RCV001025384]|not provided [RCV001284251]|not specified [RCV003493711] Chr5:112842133 [GRCh38]
Chr5:112177830 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6493C>A (p.Pro2165Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768081]|Hereditary cancer-predisposing syndrome [RCV001025330]|not provided [RCV001284249]|not specified [RCV003493712] Chr5:112842087 [GRCh38]
Chr5:112177784 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5831G>T (p.Gly1944Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534699]|not provided [RCV001800857] Chr5:112841425 [GRCh38]
Chr5:112177122 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7930_7934del (p.Ile2644fs) deletion Familial adenomatous polyposis 1 [RCV000687899] Chr5:112843522..112843526 [GRCh38]
Chr5:112179219..112179223 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5212C>G (p.His1738Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534702]|Hereditary cancer-predisposing syndrome [RCV000772411] Chr5:112840806 [GRCh38]
Chr5:112176503 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6871C>G (p.Gln2291Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534703]|Hereditary cancer-predisposing syndrome [RCV000772412] Chr5:112842465 [GRCh38]
Chr5:112178162 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.578C>G (p.Ala193Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534709] Chr5:112780836 [GRCh38]
Chr5:112116533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.496A>G (p.Thr166Ala) single nucleotide variant APC-related condition [RCV003983171]|Familial adenomatous polyposis 1 [RCV003534677]|Hereditary cancer-predisposing syndrome [RCV001023341] Chr5:112775702 [GRCh38]
Chr5:112111399 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.589A>G (p.Arg197Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744627] Chr5:112780847 [GRCh38]
Chr5:112116544 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1240C>G (p.Arg414Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000691447]|Familial adenomatous polyposis 1 [RCV003534597] Chr5:112819272 [GRCh38]
Chr5:112154969 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+6T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534676]|Hereditary cancer-predisposing syndrome [RCV002343511] Chr5:112775743 [GRCh38]
Chr5:112111440 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.5335A>G (p.Ile1779Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653264]|Hereditary cancer-predisposing syndrome [RCV001179106]|not provided [RCV003319411] Chr5:112840929 [GRCh38]
Chr5:112176626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3611A>G (p.Gln1204Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534555] Chr5:112839205 [GRCh38]
Chr5:112174902 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2674G>T (p.Glu892Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534685] Chr5:112838268 [GRCh38]
Chr5:112173965 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1343C>G (p.Pro448Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534686]|Hereditary cancer-predisposing syndrome [RCV003163252] Chr5:112821926 [GRCh38]
Chr5:112157623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7606C>T (p.Pro2536Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534562]|Hereditary cancer-predisposing syndrome [RCV001805801] Chr5:112843200 [GRCh38]
Chr5:112178897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.266C>A (p.Ser89Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336132]|Hereditary cancer-predisposing syndrome [RCV001016260] Chr5:112767234 [GRCh38]
Chr5:112102931 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2094A>T (p.Leu698Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768051] Chr5:112837688 [GRCh38]
Chr5:112173385 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5826C>G (p.Asp1942Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534687]|Hereditary cancer-predisposing syndrome [RCV001524295] Chr5:112841420 [GRCh38]
Chr5:112177117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4416_4427dup (p.Asn1473_Val1476dup) duplication Familial adenomatous polyposis 1 [RCV003534694]|Hereditary cancer-predisposing syndrome [RCV003165871] Chr5:112840001..112840002 [GRCh38]
Chr5:112175698..112175699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.222G>C (p.Glu74Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534695] Chr5:112767190 [GRCh38]
Chr5:112102887 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1385A>G (p.His462Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534692]|Hereditary cancer-predisposing syndrome [RCV000773009] Chr5:112821968 [GRCh38]
Chr5:112157665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3662C>G (p.Pro1221Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233148] Chr5:112839256 [GRCh38]
Chr5:112174953 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409G>A (p.Gly470Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534719]|Hereditary cancer-predisposing syndrome [RCV002256485] Chr5:112827108 [GRCh38]
Chr5:112162805 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.600G>C (p.Met200Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002532218]|Hereditary cancer-predisposing syndrome [RCV000777314] Chr5:112780858 [GRCh38]
Chr5:112116555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6368G>A (p.Cys2123Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002532219]|Hereditary cancer-predisposing syndrome [RCV000708642] Chr5:112841962 [GRCh38]
Chr5:112177659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4228T>G (p.Cys1410Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653267]|Hereditary cancer-predisposing syndrome [RCV001022090] Chr5:112839822 [GRCh38]
Chr5:112175519 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2101A>G (p.Met701Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708637] Chr5:112837695 [GRCh38]
Chr5:112173392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4136A>G (p.Glu1379Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708639] Chr5:112839730 [GRCh38]
Chr5:112175427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3254A>C (p.Lys1085Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534630]|Hereditary cancer-predisposing syndrome [RCV001019453]|not provided [RCV003317345] Chr5:112838848 [GRCh38]
Chr5:112174545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534693]|Hereditary cancer-predisposing syndrome [RCV002386245] Chr5:112821894 [GRCh38]
Chr5:112157591 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.1192A>C (p.Lys398Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544770]|Hereditary cancer-predisposing syndrome [RCV000776477]|not provided [RCV000758718] Chr5:112819224 [GRCh38]
Chr5:112154921 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6348T>G (p.His2116Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534721]|Hereditary cancer-predisposing syndrome [RCV001183571] Chr5:112841942 [GRCh38]
Chr5:112177639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4319C>A (p.Pro1440Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534722]|Hereditary cancer-predisposing syndrome [RCV000773842] Chr5:112839913 [GRCh38]
Chr5:112175610 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4339C>G (p.Gln1447Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534584]|Hereditary cancer-predisposing syndrome [RCV002332420] Chr5:112839933 [GRCh38]
Chr5:112175630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4167del (p.Val1390fs) deletion Familial adenomatous polyposis 1 [RCV003534585] Chr5:112839761 [GRCh38]
Chr5:112175458 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1870A>C (p.Ser624Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002532856]|Familial adenomatous polyposis 1 [RCV003534738] Chr5:112835077 [GRCh38]
Chr5:112170774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1864T>C (p.Tyr622His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708955]|Hereditary cancer-predisposing syndrome [RCV001013445] Chr5:112835071 [GRCh38]
Chr5:112170768 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1886T>A (p.Leu629Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708956]|Familial adenomatous polyposis 1 [RCV003337338] Chr5:112835093 [GRCh38]
Chr5:112170790 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1895_1958+28del deletion Familial adenomatous polyposis 1 [RCV000708957] Chr5:112835099..112835190 [GRCh38]
Chr5:112170796..112170887 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2254C>G (p.Leu752Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708958] Chr5:112837848 [GRCh38]
Chr5:112173545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2385_2386del (p.Tyr796fs) microsatellite Familial adenomatous polyposis 1 [RCV000708960]|Familial multiple polyposis syndrome [RCV003330915] Chr5:112837976..112837977 [GRCh38]
Chr5:112173673..112173674 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2995C>G (p.Gln999Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708961]|Familial adenomatous polyposis 1 [RCV003653270]|Hereditary cancer-predisposing syndrome [RCV000776660] Chr5:112838589 [GRCh38]
Chr5:112174286 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3374dup (p.Ser1126fs) duplication Familial adenomatous polyposis 1 [RCV000708962] Chr5:112838967..112838968 [GRCh38]
Chr5:112174664..112174665 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4124A>C (p.His1375Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708963] Chr5:112839718 [GRCh38]
Chr5:112175415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4556A>G (p.Asp1519Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708965]|Hereditary cancer-predisposing syndrome [RCV001805827] Chr5:112840150 [GRCh38]
Chr5:112175847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6287C>G (p.Ser2096Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708973] Chr5:112841881 [GRCh38]
Chr5:112177578 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.7639T>G (p.Trp2547Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708974]|Familial adenomatous polyposis 1 [RCV003744628] Chr5:112843233 [GRCh38]
Chr5:112178930 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5741C>T (p.Ala1914Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708972]|Familial adenomatous polyposis 1 [RCV003653271]|Hereditary cancer-predisposing syndrome [RCV002257951] Chr5:112841335 [GRCh38]
Chr5:112177032 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2299C>T (p.Gln767Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002294368]|Familial adenomatous polyposis 1 [RCV003337334]|Hereditary cancer-predisposing syndrome [RCV002424593] Chr5:112837893 [GRCh38]
Chr5:112173590 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.457A>G (p.Lys153Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534723]|Hereditary cancer-predisposing syndrome [RCV003584727]|not provided [RCV003442051] Chr5:112775663 [GRCh38]
Chr5:112111360 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2485del (p.Thr829fs) deletion Familial adenomatous polyposis 1 [RCV003534612]|not provided [RCV000755824] Chr5:112838079 [GRCh38]
Chr5:112173776 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7442C>A (p.Thr2481Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534740] Chr5:112843036 [GRCh38]
Chr5:112178733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.298G>A (p.Glu100Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534742] Chr5:112767266 [GRCh38]
Chr5:112102963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5923A>G (p.Ile1975Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534696]|Hereditary cancer-predisposing syndrome [RCV000775336] Chr5:112841517 [GRCh38]
Chr5:112177214 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6118C>G (p.Gln2040Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534586] Chr5:112841712 [GRCh38]
Chr5:112177409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.112001178_112043328del deletion Familial adenomatous polyposis 1 [RCV002233413] Chr5:112665481..112707631 [GRCh38]
Chr5:112001178..112043328 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.7265C>T (p.Thr2422Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534724]|Hereditary cancer-predisposing syndrome [RCV002386266]|not provided [RCV001284367] Chr5:112842859 [GRCh38]
Chr5:112178556 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8324G>C (p.Gly2775Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534632] Chr5:112843918 [GRCh38]
Chr5:112179615 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1673A>G (p.Asn558Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534725]|Hereditary cancer-predisposing syndrome [RCV001184089] Chr5:112828902 [GRCh38]
Chr5:112164599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2614A>G (p.Thr872Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534744]|Hereditary cancer-predisposing syndrome [RCV002440553] Chr5:112838208 [GRCh38]
Chr5:112173905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.817A>G (p.Thr273Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534615]|Hereditary cancer-predisposing syndrome [RCV001184707] Chr5:112801366 [GRCh38]
Chr5:112137063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5218C>A (p.Pro1740Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534634] Chr5:112840812 [GRCh38]
Chr5:112176509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2801C>T (p.Thr934Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534637]|Hereditary cancer-predisposing syndrome [RCV000777125] Chr5:112838395 [GRCh38]
Chr5:112174092 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5623T>C (p.Ser1875Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534590] Chr5:112841217 [GRCh38]
Chr5:112176914 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2652dup (p.Ala885fs) duplication Familial adenomatous polyposis 1 [RCV003336140] Chr5:112838245..112838246 [GRCh38]
Chr5:112173942..112173943 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3595A>G (p.Lys1199Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534592]|Hereditary cancer-predisposing syndrome [RCV002334284] Chr5:112839189 [GRCh38]
Chr5:112174886 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7206T>G (p.Asn2402Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534747]|Hereditary cancer-predisposing syndrome [RCV002369976] Chr5:112842800 [GRCh38]
Chr5:112178497 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1481G>C (p.Ser494Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534748] Chr5:112827180 [GRCh38]
Chr5:112162877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8360A>G (p.Asn2787Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534700]|Hereditary cancer-predisposing syndrome [RCV000774954] Chr5:112843954 [GRCh38]
Chr5:112179651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3293G>A (p.Cys1098Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534571]|Hereditary cancer-predisposing syndrome [RCV003303115] Chr5:112838887 [GRCh38]
Chr5:112174584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3145T>G (p.Trp1049Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534727] Chr5:112838739 [GRCh38]
Chr5:112174436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2103G>T (p.Met701Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534705]|Hereditary cancer-predisposing syndrome [RCV002422581] Chr5:112837697 [GRCh38]
Chr5:112173394 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7639T>A (p.Trp2547Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534706] Chr5:112843233 [GRCh38]
Chr5:112178930 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5408G>C (p.Arg1803Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536394]|Familial adenomatous polyposis 1 [RCV003534728]|Hereditary cancer-predisposing syndrome [RCV001024054] Chr5:112841002 [GRCh38]
Chr5:112176699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4450G>C (p.Asp1484His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534729]|Hereditary cancer-predisposing syndrome [RCV002332503]|not specified [RCV003320735] Chr5:112840044 [GRCh38]
Chr5:112175741 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4248C>T (p.Gly1416=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534572]|Hereditary cancer-predisposing syndrome [RCV001022127]|not provided [RCV003478406] Chr5:112839842 [GRCh38]
Chr5:112175539 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3772A>T (p.Thr1258Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534707]|Hereditary cancer-predisposing syndrome [RCV001021098] Chr5:112839366 [GRCh38]
Chr5:112175063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3397G>A (p.Asp1133Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534730] Chr5:112838991 [GRCh38]
Chr5:112174688 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.989del (p.Met330fs) deletion Familial adenomatous polyposis 1 [RCV002532250]|Familial adenomatous polyposis 1 [RCV003534621]|not provided [RCV001355984] Chr5:112819021 [GRCh38]
Chr5:112154718 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2914G>A (p.Gly972Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534575]|Hereditary cancer-predisposing syndrome [RCV003303117] Chr5:112838508 [GRCh38]
Chr5:112174205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1655C>G (p.Ser552Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534576] Chr5:112828884 [GRCh38]
Chr5:112164581 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4451A>C (p.Asp1484Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534577] Chr5:112840045 [GRCh38]
Chr5:112175742 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8525C>T (p.Ser2842Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534578] Chr5:112844119 [GRCh38]
Chr5:112179816 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.424_531+69dup duplication Familial adenomatous polyposis 1 [RCV002233227] Chr5:112775629..112775630 [GRCh38]
Chr5:112111326..112111327 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs) duplication Familial adenomatous polyposis 1 [RCV003337337]|Hereditary cancer-predisposing syndrome [RCV002458314]|not provided [RCV002251750] Chr5:112839263..112839264 [GRCh38]
Chr5:112174960..112174961 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6496C>G (p.Arg2166Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534731]|Hereditary cancer-predisposing syndrome [RCV003303191] Chr5:112842090 [GRCh38]
Chr5:112177787 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.977A>T (p.Asp326Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534622] Chr5:112819009 [GRCh38]
Chr5:112154706 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3549T>G (p.Tyr1183Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534552] Chr5:112839143 [GRCh38]
Chr5:112174840 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1562C>T (p.Ser521Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534675]|Hereditary cancer-predisposing syndrome [RCV000772565] Chr5:112827942 [GRCh38]
Chr5:112163639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7066A>G (p.Thr2356Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534601]|Hereditary cancer-predisposing syndrome [RCV001186456] Chr5:112842660 [GRCh38]
Chr5:112178357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2307A>T (p.Leu769Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534732]|Hereditary cancer-predisposing syndrome [RCV002424716] Chr5:112837901 [GRCh38]
Chr5:112173598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.656C>A (p.Ala219Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534602]|Hereditary cancer-predisposing syndrome [RCV003584711] Chr5:112792456 [GRCh38]
Chr5:112128153 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.287A>T (p.Tyr96Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534624]|Hereditary cancer-predisposing syndrome [RCV001016872] Chr5:112767255 [GRCh38]
Chr5:112102952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6581T>C (p.Val2194Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002532200]|Hereditary cancer-predisposing syndrome [RCV002369819] Chr5:112842175 [GRCh38]
Chr5:112177872 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3396A>T (p.Glu1132Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534554] Chr5:112838990 [GRCh38]
Chr5:112174687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7411C>T (p.Pro2471Ser) single nucleotide variant APC-related condition [RCV003403625]|Familial adenomatous polyposis 1 [RCV003534679] Chr5:112843005 [GRCh38]
Chr5:112178702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5161G>C (p.Gly1721Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534733]|Hereditary cancer-predisposing syndrome [RCV000771684] Chr5:112840755 [GRCh38]
Chr5:112176452 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-5A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534626]|Hereditary cancer-predisposing syndrome [RCV001026248] Chr5:112801274 [GRCh38]
Chr5:112136971 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2466_2467insA (p.Ser823fs) insertion Familial adenomatous polyposis 1 [RCV003337336] Chr5:112838060..112838061 [GRCh38]
Chr5:112173757..112173758 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4125C>G (p.His1375Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534580]|Hereditary cancer-predisposing syndrome [RCV001021914] Chr5:112839719 [GRCh38]
Chr5:112175416 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1060C>A (p.Pro354Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534734]|Hereditary cancer-predisposing syndrome [RCV001009812] Chr5:112819092 [GRCh38]
Chr5:112154789 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5820dup (p.Pro1941fs) duplication Familial adenomatous polyposis 1 [RCV002544732]|Familial adenomatous polyposis 1 [RCV003534558] Chr5:112841413..112841414 [GRCh38]
Chr5:112177110..112177111 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6436T>C (p.Ser2146Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534560] Chr5:112842030 [GRCh38]
Chr5:112177727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5156A>C (p.Glu1719Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534561] Chr5:112840750 [GRCh38]
Chr5:112176447 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2749G>A (p.Asp917Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534714]|Hereditary cancer-predisposing syndrome [RCV001016481]|not provided [RCV001592901] Chr5:112838343 [GRCh38]
Chr5:112174040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4511C>T (p.Ser1504Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534716]|Hereditary cancer-predisposing syndrome [RCV001022615]|not provided [RCV001799704] Chr5:112840105 [GRCh38]
Chr5:112175802 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5768C>G (p.Pro1923Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534717]|Hereditary cancer-predisposing syndrome [RCV001024503] Chr5:112841362 [GRCh38]
Chr5:112177059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.328T>C (p.Cys110Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534605] Chr5:112767296 [GRCh38]
Chr5:112102993 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8048T>C (p.Ile2683Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534607]|Hereditary cancer-predisposing syndrome [RCV001027102] Chr5:112843642 [GRCh38]
Chr5:112179339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.901C>T (p.Pro301Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534608]|Hereditary cancer-predisposing syndrome [RCV000772978] Chr5:112815561 [GRCh38]
Chr5:112151258 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.928A>G (p.Thr310Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534564]|Hereditary cancer-predisposing syndrome [RCV002369827] Chr5:112815588 [GRCh38]
Chr5:112151285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7099A>G (p.Thr2367Ala) single nucleotide variant APC-related condition [RCV003420229]|Familial adenomatous polyposis 1 [RCV000692525]|Hereditary cancer-predisposing syndrome [RCV001026031]|not provided [RCV000758740] Chr5:112842693 [GRCh38]
Chr5:112178390 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112072721)_(112090728_?)dup duplication Familial adenomatous polyposis 1 [RCV003153825] Chr5:112737024..112755031 [GRCh38]
Chr5:112072721..112090728 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.4694A>G (p.Asp1565Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534628]|Hereditary cancer-predisposing syndrome [RCV001022906] Chr5:112840288 [GRCh38]
Chr5:112175985 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5810C>T (p.Ser1937Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534566]|Hereditary cancer-predisposing syndrome [RCV001024563] Chr5:112841404 [GRCh38]
Chr5:112177101 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4442T>C (p.Val1481Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534669]|Hereditary cancer-predisposing syndrome [RCV001022488] Chr5:112840036 [GRCh38]
Chr5:112175733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4670T>G (p.Ile1557Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534673]|Hereditary cancer-predisposing syndrome [RCV000772530] Chr5:112840264 [GRCh38]
Chr5:112175961 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3317G>A (p.Gly1106Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534736]|Hereditary cancer-predisposing syndrome [RCV001188192] Chr5:112838911 [GRCh38]
Chr5:112174608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.302G>A (p.Gly101Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708949]|Familial adenomatous polyposis 1 [RCV003653268] Chr5:112767270 [GRCh38]
Chr5:112102967 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.424T>A (p.Ser142Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708950] Chr5:112775630 [GRCh38]
Chr5:112111327 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.557G>C (p.Arg186Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708952] Chr5:112780815 [GRCh38]
Chr5:112116512 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.673G>C (p.Glu225Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708953]|Familial adenomatous polyposis 1 [RCV003653269] Chr5:112792473 [GRCh38]
Chr5:112128170 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.899C>T (p.Ala300Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708954] Chr5:112815559 [GRCh38]
Chr5:112151256 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4583T>C (p.Val1528Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708966] Chr5:112840177 [GRCh38]
Chr5:112175874 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4833G>C (p.Gln1611His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708967]|Hereditary cancer-predisposing syndrome [RCV001023128] Chr5:112840427 [GRCh38]
Chr5:112176124 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5020G>A (p.Gly1674Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708968]|Hereditary cancer-predisposing syndrome [RCV002343579]|not specified [RCV001824870] Chr5:112840614 [GRCh38]
Chr5:112176311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5624C>G (p.Ser1875Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708971]|Hereditary cancer-predisposing syndrome [RCV002343580] Chr5:112841218 [GRCh38]
Chr5:112176915 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8023C>T (p.Pro2675Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000708975] Chr5:112843617 [GRCh38]
Chr5:112179314 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2884del (p.Asp962fs) deletion Familial adenomatous polyposis 1 [RCV003336148]|not provided [RCV001800855] Chr5:112838478 [GRCh38]
Chr5:112174175 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.461A>G (p.Glu154Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534659] Chr5:112775667 [GRCh38]
Chr5:112111364 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6805A>C (p.Thr2269Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534658] Chr5:112842399 [GRCh38]
Chr5:112178096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6934C>A (p.Pro2312Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233638]|Hereditary cancer-predisposing syndrome [RCV000776340] Chr5:112842528 [GRCh38]
Chr5:112178225 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3782del (p.Thr1261fs) deletion Familial adenomatous polyposis 1 [RCV003534581] Chr5:112839376 [GRCh38]
Chr5:112175073 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5312A>G (p.Lys1771Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534582]|Hereditary cancer-predisposing syndrome [RCV002343449] Chr5:112840906 [GRCh38]
Chr5:112176603 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6781C>G (p.Pro2261Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534583]|Hereditary cancer-predisposing syndrome [RCV002360731] Chr5:112842375 [GRCh38]
Chr5:112178072 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7519C>T (p.Leu2507Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000697482]|Hereditary cancer-predisposing syndrome [RCV001185514] Chr5:112843113 [GRCh38]
Chr5:112178810 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4478_4479delinsGA (p.Thr1493Arg) indel Familial adenomatous polyposis 1 [RCV002233331] Chr5:112840072..112840073 [GRCh38]
Chr5:112175769..112175770 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3488_3492del (p.Ser1163fs) deletion Familial adenomatous polyposis 1 [RCV003336133] Chr5:112839079..112839083 [GRCh38]
Chr5:112174776..112174780 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2588A>G (p.Tyr863Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233402]|Familial adenomatous polyposis 1 [RCV003472244]|Hereditary cancer-predisposing syndrome [RCV001183568] Chr5:112838182 [GRCh38]
Chr5:112173879 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768055]|Hereditary cancer [RCV003492129]|Hereditary cancer-predisposing syndrome [RCV000776331]|not provided [RCV003478409] Chr5:112842985 [GRCh38]
Chr5:112178682 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8383G>C (p.Ala2795Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534718]|Hereditary cancer-predisposing syndrome [RCV001183570] Chr5:112843977 [GRCh38]
Chr5:112179674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2338del (p.Ser780fs) deletion Familial adenomatous polyposis 1 [RCV003534737] Chr5:112837931 [GRCh38]
Chr5:112173628 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3925G>A (p.Glu1309Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534609] Chr5:112839519 [GRCh38]
Chr5:112175216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5477A>G (p.Lys1826Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534610] Chr5:112841071 [GRCh38]
Chr5:112176768 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6963A>G (p.Ile2321Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534633]|Hereditary cancer-predisposing syndrome [RCV003303145] Chr5:112842557 [GRCh38]
Chr5:112178254 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6011_6012insTT (p.Ser2005fs) insertion Familial adenomatous polyposis 1 [RCV003336149]|Hereditary cancer-predisposing syndrome [RCV002352167] Chr5:112841605..112841606 [GRCh38]
Chr5:112177302..112177303 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.942G>A (p.Met314Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534660] Chr5:112818974 [GRCh38]
Chr5:112154671 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6141G>A (p.Met2047Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534720] Chr5:112841735 [GRCh38]
Chr5:112177432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4451A>T (p.Asp1484Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534739]|Hereditary cancer-predisposing syndrome [RCV002332513]|not provided [RCV003329335] Chr5:112840045 [GRCh38]
Chr5:112175742 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.87T>G (p.Asp29Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534613] Chr5:112754977 [GRCh38]
Chr5:112090674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8323G>A (p.Gly2775Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534611]|Hereditary cancer-predisposing syndrome [RCV001187694] Chr5:112843917 [GRCh38]
Chr5:112179614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4198T>C (p.Ser1400Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534741] Chr5:112839792 [GRCh38]
Chr5:112175489 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6477T>A (p.Phe2159Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534635]|Hereditary cancer-predisposing syndrome [RCV000772870] Chr5:112842071 [GRCh38]
Chr5:112177768 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6872A>C (p.Gln2291Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534636] Chr5:112842466 [GRCh38]
Chr5:112178163 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.496A>T (p.Thr166Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002532290] Chr5:112775702 [GRCh38]
Chr5:112111399 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+6T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534570] Chr5:112828978 [GRCh38]
Chr5:112164675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5360C>G (p.Thr1787Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534701]|Hereditary cancer-predisposing syndrome [RCV002343543] Chr5:112840954 [GRCh38]
Chr5:112176651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7498C>T (p.Gln2500Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000693291] Chr5:112843092 [GRCh38]
Chr5:112178789 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6547T>A (p.Ser2183Thr) single nucleotide variant APC-related condition [RCV003983169]|Familial adenomatous polyposis 1 [RCV002532234]|Familial adenomatous polyposis 1 [RCV003534614]|Hereditary cancer-predisposing syndrome [RCV001186452]|not provided [RCV003478420] Chr5:112842141 [GRCh38]
Chr5:112177838 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5284A>G (p.Lys1762Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534638]|Hereditary cancer-predisposing syndrome [RCV002343488] Chr5:112840878 [GRCh38]
Chr5:112176575 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1824T>A (p.Ala608=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653262]|Hereditary cancer-predisposing syndrome [RCV001176906] Chr5:112835031 [GRCh38]
Chr5:112170728 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3381G>T (p.Gln1127His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534639] Chr5:112838975 [GRCh38]
Chr5:112174672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7707T>G (p.Ser2569Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534640]|Hereditary cancer-predisposing syndrome [RCV001026737] Chr5:112843301 [GRCh38]
Chr5:112178998 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6875T>C (p.Ile2292Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534704]|Hereditary cancer-predisposing syndrome [RCV000775345] Chr5:112842469 [GRCh38]
Chr5:112178166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2228T>C (p.Met743Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653265]|Hereditary cancer-predisposing syndrome [RCV000777336]|not provided [RCV000985290] Chr5:112837822 [GRCh38]
Chr5:112173519 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2644A>G (p.Thr882Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768056]|Hereditary cancer-predisposing syndrome [RCV001016195] Chr5:112838238 [GRCh38]
Chr5:112173935 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2621C>T (p.Ser874Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534587]|not specified [RCV001816706] Chr5:112838215 [GRCh38]
Chr5:112173912 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8372_8374del (p.Arg2791del) deletion Familial adenomatous polyposis 1 [RCV003534588] Chr5:112843965..112843967 [GRCh38]
Chr5:112179662..112179664 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7942G>A (p.Ala2648Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000707345]|Familial adenomatous polyposis 1 [RCV003534743]|Hereditary cancer-predisposing syndrome [RCV002255516] Chr5:112843536 [GRCh38]
Chr5:112179233 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.71G>T (p.Arg24Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534745]|Hereditary cancer-predisposing syndrome [RCV001026152] Chr5:112754961 [GRCh38]
Chr5:112090658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4325C>T (p.Pro1442Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534746] Chr5:112839919 [GRCh38]
Chr5:112175616 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5603ATG[3] (p.Asp1871del) microsatellite Familial adenomatous polyposis 1 [RCV003534616]|Hereditary cancer-predisposing syndrome [RCV001190456] Chr5:112841195..112841197 [GRCh38]
Chr5:112176892..112176894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1762G>C (p.Val588Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534641] Chr5:112834969 [GRCh38]
Chr5:112170666 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1292T>C (p.Met431Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534642]|Hereditary cancer-predisposing syndrome [RCV000774978]|not provided [RCV001800853] Chr5:112819324 [GRCh38]
Chr5:112155021 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6434G>C (p.Gly2145Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534573] Chr5:112842028 [GRCh38]
Chr5:112177725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4667C>T (p.Thr1556Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534708] Chr5:112840261 [GRCh38]
Chr5:112175958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5293_5296del (p.Leu1765fs) deletion Familial adenomatous polyposis 1 [RCV003534589] Chr5:112840885..112840888 [GRCh38]
Chr5:112176582..112176585 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3605C>G (p.Ser1202Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534591]|Hereditary cancer-predisposing syndrome [RCV001180267] Chr5:112839199 [GRCh38]
Chr5:112174896 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6781C>T (p.Pro2261Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534726]|Hereditary cancer-predisposing syndrome [RCV000777088]|not provided [RCV003478443] Chr5:112842375 [GRCh38]
Chr5:112178072 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3022A>G (p.Ile1008Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534593]|Hereditary cancer-predisposing syndrome [RCV000776405] Chr5:112838616 [GRCh38]
Chr5:112174313 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3745T>A (p.Cys1249Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534617]|Hereditary cancer-predisposing syndrome [RCV002343474] Chr5:112839339 [GRCh38]
Chr5:112175036 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3028A>G (p.Ser1010Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002531472]|Familial adenomatous polyposis 1 [RCV003534618]|Hereditary cancer-predisposing syndrome [RCV001187696] Chr5:112838622 [GRCh38]
Chr5:112174319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6619_6620delinsAA (p.Ser2207Lys) indel Familial adenomatous polyposis 1 [RCV002233253]|Hereditary cancer-predisposing syndrome [RCV001025459] Chr5:112842213..112842214 [GRCh38]
Chr5:112177910..112177911 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8140_8141del (p.Arg2714fs) deletion Familial adenomatous polyposis 1 [RCV003534643]|Hereditary cancer-predisposing syndrome [RCV002422525] Chr5:112843733..112843734 [GRCh38]
Chr5:112179430..112179431 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2068A>G (p.Arg690Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002532326]|Familial adenomatous polyposis 1 [RCV003534644]|Hereditary cancer-predisposing syndrome [RCV003163197] Chr5:112837662 [GRCh38]
Chr5:112173359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2453A>C (p.Asn818Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534645]|Hereditary cancer-predisposing syndrome [RCV003344002] Chr5:112838047 [GRCh38]
Chr5:112173744 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2744T>C (p.Val915Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002532333]|Familial adenomatous polyposis 1 [RCV003534646]|Hereditary cancer-predisposing syndrome [RCV003338737] Chr5:112838338 [GRCh38]
Chr5:112174035 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1357C>G (p.Leu453Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534710] Chr5:112821940 [GRCh38]
Chr5:112157637 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5885G>A (p.Cys1962Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534647]|Hereditary cancer-predisposing syndrome [RCV002352157] Chr5:112841479 [GRCh38]
Chr5:112177176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2999_3005del (p.Tyr1000fs) deletion Familial adenomatous polyposis 1 [RCV003534574] Chr5:112838593..112838599 [GRCh38]
Chr5:112174290..112174296 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3203C>A (p.Ser1068Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336155]|Hereditary cancer-predisposing syndrome [RCV001019204] Chr5:112838797 [GRCh38]
Chr5:112174494 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.132dup (p.Lys45fs) duplication Familial adenomatous polyposis 1 [RCV003534711] Chr5:112755021..112755022 [GRCh38]
Chr5:112090718..112090719 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5990G>C (p.Gly1997Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768086]|Hereditary cancer-predisposing syndrome [RCV001184093]|not provided [RCV003233830] Chr5:112841584 [GRCh38]
Chr5:112177281 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112815485)_(112835175_?)del deletion Familial adenomatous polyposis 1 [RCV000707778]|Familial adenomatous polyposis 1 [RCV001861922] Chr5:112815485..112835175 [GRCh38]
Chr5:112151182..112170872 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8420C>T (p.Thr2807Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534619] Chr5:112844014 [GRCh38]
Chr5:112179711 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5119T>C (p.Ser1707Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534648]|Hereditary cancer-predisposing syndrome [RCV001023573] Chr5:112840713 [GRCh38]
Chr5:112176410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5507del (p.Gly1836fs) deletion Familial adenomatous polyposis 1 [RCV003337335]|Hereditary cancer-predisposing syndrome [RCV001805818] Chr5:112841100 [GRCh38]
Chr5:112176797 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.380G>A (p.Ser127Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534579]|Hereditary cancer-predisposing syndrome [RCV001021205] Chr5:112767348 [GRCh38]
Chr5:112103045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6062T>A (p.Phe2021Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534594] Chr5:112841656 [GRCh38]
Chr5:112177353 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4888G>A (p.Val1630Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534595] Chr5:112840482 [GRCh38]
Chr5:112176179 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4463dup (p.Leu1488fs) duplication Familial adenomatous polyposis 1 [RCV003336142]|Hereditary cancer-predisposing syndrome [RCV002332442] Chr5:112840054..112840055 [GRCh38]
Chr5:112175751..112175752 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1880A>G (p.Asn627Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768062]|Hereditary cancer-predisposing syndrome [RCV001525889] Chr5:112835087 [GRCh38]
Chr5:112170784 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3127C>T (p.Pro1043Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002531484]|Familial adenomatous polyposis 1 [RCV003534620]|Inborn genetic diseases [RCV002532248]|not provided [RCV002280137] Chr5:112838721 [GRCh38]
Chr5:112174418 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1790C>T (p.Ala597Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534649]|Hereditary cancer-predisposing syndrome [RCV001013183] Chr5:112834997 [GRCh38]
Chr5:112170694 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1786T>C (p.Ser596Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533443]|Hereditary cancer-predisposing syndrome [RCV002397424]|not provided [RCV001756210] Chr5:112834993 [GRCh38]
Chr5:112170690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6850C>T (p.Pro2284Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534661]|Hereditary cancer-predisposing syndrome [RCV001025732] Chr5:112842444 [GRCh38]
Chr5:112178141 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7993C>T (p.Pro2665Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534550] Chr5:112843587 [GRCh38]
Chr5:112179284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4039G>C (p.Ala1347Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534664] Chr5:112839633 [GRCh38]
Chr5:112175330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3068C>T (p.Thr1023Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534596]|Hereditary cancer-predisposing syndrome [RCV002442442] Chr5:112838662 [GRCh38]
Chr5:112174359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6499A>G (p.Ile2167Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV000691454]|Familial adenomatous polyposis 1 [RCV003534598]|Hereditary cancer-predisposing syndrome [RCV002360741]|not provided [RCV001775963] Chr5:112842093 [GRCh38]
Chr5:112177790 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7174C>T (p.Pro2392Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534623]|Hereditary cancer-predisposing syndrome [RCV001191948] Chr5:112842768 [GRCh38]
Chr5:112178465 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.744C>G (p.Asn248Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534650] Chr5:112801293 [GRCh38]
Chr5:112136990 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6920C>T (p.Ser2307Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653263]|Hereditary cancer-predisposing syndrome [RCV001179598] Chr5:112842514 [GRCh38]
Chr5:112178211 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8035A>T (p.Thr2679Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534651]|Hereditary cancer-predisposing syndrome [RCV002422530] Chr5:112843629 [GRCh38]
Chr5:112179326 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2379A>C (p.Gln793His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534553] Chr5:112837973 [GRCh38]
Chr5:112173670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7337A>C (p.Glu2446Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002531436] Chr5:112842931 [GRCh38]
Chr5:112178628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8310_8311del (p.His2770fs) microsatellite Familial adenomatous polyposis 1 [RCV003534680]|Hereditary cancer-predisposing syndrome [RCV002424684] Chr5:112843901..112843902 [GRCh38]
Chr5:112179598..112179599 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.4666A>G (p.Thr1556Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534682]|not provided [RCV001775971] Chr5:112840260 [GRCh38]
Chr5:112175957 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-18C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534666] Chr5:112707700 [GRCh38]
Chr5:112043397 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8497C>G (p.Arg2833Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534625]|Hereditary cancer-predisposing syndrome [RCV002442458]|not provided [RCV001756196] Chr5:112844091 [GRCh38]
Chr5:112179788 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2698T>G (p.Ser900Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534652]|Hereditary cancer-predisposing syndrome [RCV002424665] Chr5:112838292 [GRCh38]
Chr5:112173989 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8420C>A (p.Thr2807Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534653]|Hereditary cancer-predisposing syndrome [RCV002442475] Chr5:112844014 [GRCh38]
Chr5:112179711 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1721A>G (p.Glu574Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534654] Chr5:112828950 [GRCh38]
Chr5:112164647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6871C>T (p.Gln2291Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000685679] Chr5:112842465 [GRCh38]
Chr5:112178162 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1415dup (p.Gln473fs) duplication Familial adenomatous polyposis 1 [RCV003534556] Chr5:112827113..112827114 [GRCh38]
Chr5:112162810..112162811 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2544A>G (p.Lys848=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534667]|Hereditary cancer-predisposing syndrome [RCV001015869] Chr5:112838138 [GRCh38]
Chr5:112173835 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.311C>T (p.Ser104Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534599] Chr5:112767279 [GRCh38]
Chr5:112102976 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5900C>G (p.Ser1967Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534600]|Hereditary cancer-predisposing syndrome [RCV003584710]|not provided [RCV002223910] Chr5:112841494 [GRCh38]
Chr5:112177191 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.868A>G (p.Ser290Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003465580]|Hereditary cancer-predisposing syndrome [RCV000777559]|not provided [RCV003478416] Chr5:112815528 [GRCh38]
Chr5:112151225 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2383C>A (p.Leu795Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534559]|Hereditary cancer-predisposing syndrome [RCV002458201]|not specified [RCV003323685] Chr5:112837977 [GRCh38]
Chr5:112173674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7829G>T (p.Gly2610Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534712]|Hereditary cancer-predisposing syndrome [RCV000777104] Chr5:112843423 [GRCh38]
Chr5:112179120 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3661C>T (p.Pro1221Ser) single nucleotide variant Desmoid disease, hereditary [RCV002507195]|Familial adenomatous polyposis 1 [RCV002547136]|Hereditary cancer-predisposing syndrome [RCV001182319] Chr5:112839255 [GRCh38]
Chr5:112174952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys) single nucleotide variant Desmoid disease, hereditary [RCV002507238]|Familial adenomatous polyposis 1 [RCV003653266]|Hereditary cancer-predisposing syndrome [RCV002360828] Chr5:112842691 [GRCh38]
Chr5:112178388 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3308G>A (p.Arg1103Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534603]|Hereditary cancer-predisposing syndrome [RCV001019844] Chr5:112838902 [GRCh38]
Chr5:112174599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4015G>T (p.Gly1339Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768065] Chr5:112839609 [GRCh38]
Chr5:112175306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4193G>A (p.Ser1398Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534627] Chr5:112839787 [GRCh38]
Chr5:112175484 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2320G>C (p.Asp774His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534655]|Hereditary cancer-predisposing syndrome [RCV001179600] Chr5:112837914 [GRCh38]
Chr5:112173611 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2336T>G (p.Leu779Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534688] Chr5:112837930 [GRCh38]
Chr5:112173627 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3881A>C (p.Gln1294Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534690] Chr5:112839475 [GRCh38]
Chr5:112175172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6200A>G (p.Asn2067Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534713] Chr5:112841794 [GRCh38]
Chr5:112177491 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4670_4671del (p.Ile1557fs) deletion Familial adenomatous polyposis 1 [RCV002532271]|Familial adenomatous polyposis 1 [RCV003534629] Chr5:112840264..112840265 [GRCh38]
Chr5:112175961..112175962 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1594C>T (p.Gln532Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336158]|not provided [RCV000708598] Chr5:112827974 [GRCh38]
Chr5:112163671 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6046G>T (p.Asp2016Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708641] Chr5:112841640 [GRCh38]
Chr5:112177337 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7195A>C (p.Lys2399Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708643] Chr5:112842789 [GRCh38]
Chr5:112178486 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8050G>C (p.Asp2684His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708644] Chr5:112843644 [GRCh38]
Chr5:112179341 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8260A>G (p.Ser2754Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000708645] Chr5:112843854 [GRCh38]
Chr5:112179551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4407A>T (p.Gln1469His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534631]|Hereditary cancer-predisposing syndrome [RCV000771685] Chr5:112840001 [GRCh38]
Chr5:112175698 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7540A>C (p.Thr2514Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534656] Chr5:112843134 [GRCh38]
Chr5:112178831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7499A>G (p.Gln2500Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534657]|Hereditary cancer-predisposing syndrome [RCV001524290] Chr5:112843093 [GRCh38]
Chr5:112178790 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4886A>C (p.His1629Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534691] Chr5:112840480 [GRCh38]
Chr5:112176177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1739A>G (p.Lys580Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534715] Chr5:112828968 [GRCh38]
Chr5:112164665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1111G>T (p.Gly371Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534604] Chr5:112819143 [GRCh38]
Chr5:112154840 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7219G>A (p.Gly2407Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534606]|Hereditary cancer-predisposing syndrome [RCV000774449]|not provided [RCV001592882] Chr5:112842813 [GRCh38]
Chr5:112178510 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6137del (p.Ala2046fs) deletion Familial adenomatous polyposis 1 [RCV003534735] Chr5:112841731 [GRCh38]
Chr5:112177428 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707254C>G single nucleotide variant not provided [RCV001547191] Chr5:112707254 [GRCh38]
Chr5:112042951 [GRCh37]
Chr5:5q22.2		 likely benign
GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1 copy number loss not provided [RCV000846246] Chr5:108304806..121335239 [GRCh37]
Chr5:5q21.3-23.1		 pathogenic
NM_000038.6(APC):c.1881C>T (p.Asn627=) single nucleotide variant not provided [RCV001565689] Chr5:112835088 [GRCh38]
Chr5:112170785 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5285A>C (p.Lys1762Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653279]|Hereditary cancer-predisposing syndrome [RCV000771409] Chr5:112840879 [GRCh38]
Chr5:112176576 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8336C>T (p.Ala2779Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000771707] Chr5:112843930 [GRCh38]
Chr5:112179627 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2243G>A (p.Ser748Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233770]|Hereditary cancer-predisposing syndrome [RCV000772185] Chr5:112837837 [GRCh38]
Chr5:112173534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3485A>G (p.Tyr1162Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001237994]|Familial adenomatous polyposis 1 [RCV003653283]|Hereditary cancer-predisposing syndrome [RCV000772189] Chr5:112839079 [GRCh38]
Chr5:112174776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-20A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744635]|Hereditary cancer-predisposing syndrome [RCV000772289] Chr5:112815475 [GRCh38]
Chr5:112151172 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7395T>G (p.Leu2465=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772481] Chr5:112842989 [GRCh38]
Chr5:112178686 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7644A>G (p.Lys2548=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003106049]|Hereditary cancer-predisposing syndrome [RCV000772549] Chr5:112843238 [GRCh38]
Chr5:112178935 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+17A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744636]|Hereditary cancer-predisposing syndrome [RCV000772575] Chr5:112835182 [GRCh38]
Chr5:112170879 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.(?_112707312)_(112844126_?)del deletion Familial adenomatous polyposis 1 [RCV000820596]|Familial adenomatous polyposis 1 [RCV001856258] Chr5:112707312..112844126 [GRCh38]
Chr5:112043009..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.223C>T (p.Leu75Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534035]|Hereditary cancer-predisposing syndrome [RCV000772849] Chr5:112767191 [GRCh38]
Chr5:112102888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7771C>T (p.His2591Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773146] Chr5:112843365 [GRCh38]
Chr5:112179062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6847A>T (p.Ser2283Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773386] Chr5:112842441 [GRCh38]
Chr5:112178138 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.644A>G (p.Gln215Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003117559]|Hereditary cancer-predisposing syndrome [RCV000773495] Chr5:112780902 [GRCh38]
Chr5:112116599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3355C>T (p.His1119Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773496] Chr5:112838949 [GRCh38]
Chr5:112174646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.235A>G (p.Ser79Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534077]|Familial adenomatous polyposis 1 [RCV003653290]|Hereditary cancer-predisposing syndrome [RCV000773537]|Ovarian cancer [RCV003153833] Chr5:112767203 [GRCh38]
Chr5:112102900 [GRCh37]
Chr5:5q22.2		 benign|likely benign|uncertain significance
NM_000038.6(APC):c.1776A>G (p.Leu592=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535819]|Hereditary cancer-predisposing syndrome [RCV000773597] Chr5:112834983 [GRCh38]
Chr5:112170680 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2946G>T (p.Ser982=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234144]|Hereditary cancer-predisposing syndrome [RCV000773715] Chr5:112838540 [GRCh38]
Chr5:112174237 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4185T>C (p.Ser1395=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003117560]|Hereditary cancer-predisposing syndrome [RCV000773763] Chr5:112839779 [GRCh38]
Chr5:112175476 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3399T>A (p.Asp1133Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744643]|Hereditary cancer-predisposing syndrome [RCV000773795] Chr5:112838993 [GRCh38]
Chr5:112174690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5332C>A (p.Pro1778Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773807] Chr5:112840926 [GRCh38]
Chr5:112176623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.530A>G (p.Asn177Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768352]|Hereditary cancer-predisposing syndrome [RCV000773905] Chr5:112775736 [GRCh38]
Chr5:112111433 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4804C>T (p.Pro1602Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768354]|Hereditary cancer-predisposing syndrome [RCV000773933] Chr5:112840398 [GRCh38]
Chr5:112176095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3308G>C (p.Arg1103Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773969] Chr5:112838902 [GRCh38]
Chr5:112174599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6832G>A (p.Val2278Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773990] Chr5:112842426 [GRCh38]
Chr5:112178123 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.398A>G (p.Tyr133Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768357]|Hereditary cancer-predisposing syndrome [RCV000774003] Chr5:112767366 [GRCh38]
Chr5:112103063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.107A>G (p.Gln36Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768528] Chr5:112707824 [GRCh38]
Chr5:112043521 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30581G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653388] Chr5:112707363 [GRCh38]
Chr5:112043060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4787A>G (p.Gln1596Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535963]|Hereditary cancer-predisposing syndrome [RCV003584755] Chr5:112840381 [GRCh38]
Chr5:112176078 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7244A>G (p.Glu2415Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653294]|Hereditary cancer-predisposing syndrome [RCV000774445] Chr5:112842838 [GRCh38]
Chr5:112178535 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4510T>A (p.Ser1504Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774668] Chr5:112840104 [GRCh38]
Chr5:112175801 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3476C>A (p.Pro1159Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774842] Chr5:112839070 [GRCh38]
Chr5:112174767 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+16A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535828]|Hereditary cancer-predisposing syndrome [RCV000775118] Chr5:112767406 [GRCh38]
Chr5:112103103 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3868A>G (p.Asn1290Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535832]|Hereditary cancer-predisposing syndrome [RCV000775142] Chr5:112839462 [GRCh38]
Chr5:112175159 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln) single nucleotide variant APC-related condition [RCV003983202]|Familial adenomatous polyposis 1 [RCV002535529]|Hereditary cancer-predisposing syndrome [RCV000775341]|not provided [RCV001284248]|not specified [RCV000779713] Chr5:112842081 [GRCh38]
Chr5:112177778 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3581C>A (p.Ser1194Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538807]|Familial multiple polyposis syndrome [RCV001553561]|Hereditary cancer-predisposing syndrome [RCV002334597]|not provided [RCV003458075] Chr5:112839175 [GRCh38]
Chr5:112174872 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2932C>A (p.Gln978Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649372]|Hereditary cancer-predisposing syndrome [RCV002436658] Chr5:112838526 [GRCh38]
Chr5:112174223 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NC_000005.9:g.112179040_112192379del13340 deletion Primary amenorrhea [RCV000754417] Chr5:112843343..112856682 [GRCh38]
Chr5:112179040..112192379 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.123_124insTACTTCT (p.Gly42fs) insertion Familial adenomatous polyposis 1 [RCV003745510] Chr5:112707840..112707841 [GRCh38]
Chr5:112043537..112043538 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-31T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003745445] Chr5:112707687 [GRCh38]
Chr5:112043384 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4944T>C (p.Pro1648=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235726] Chr5:112840538 [GRCh38]
Chr5:112176235 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7989C>T (p.Asp2663=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235596] Chr5:112843583 [GRCh38]
Chr5:112179280 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6924C>A (p.Thr2308=) single nucleotide variant APC-related condition [RCV003913179]|Familial adenomatous polyposis 1 [RCV003537365] Chr5:112842518 [GRCh38]
Chr5:112178215 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+2T>C single nucleotide variant not provided [RCV000758000] Chr5:112766412 [GRCh38]
Chr5:112102109 [GRCh37]
Chr5:5q22.2		 not provided
NM_000038.6(APC):c.532-995C>T single nucleotide variant not provided [RCV001546013] Chr5:112779795 [GRCh38]
Chr5:112115492 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.105A>C (p.Thr35=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235981]|Hereditary cancer-predisposing syndrome [RCV002400137] Chr5:112754995 [GRCh38]
Chr5:112090692 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.864A>G (p.Thr288=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537382]|Hereditary cancer-predisposing syndrome [RCV002372685]|not provided [RCV003432980] Chr5:112815524 [GRCh38]
Chr5:112151221 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+286G>A single nucleotide variant not provided [RCV001546654] Chr5:112828292 [GRCh38]
Chr5:112163989 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-382del deletion not provided [RCV001680831] Chr5:112828458 [GRCh38]
Chr5:112164155 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.5400T>C (p.Asn1800=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653411]|Hereditary cancer-predisposing syndrome [RCV001024040] Chr5:112840994 [GRCh38]
Chr5:112176691 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7951G>C (p.Val2651Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000761072] Chr5:112843545 [GRCh38]
Chr5:112179242 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.319T>G (p.Ser107Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV000821613]|Familial adenomatous polyposis 1 [RCV003653278]|Hereditary cancer-predisposing syndrome [RCV001019146] Chr5:112767287 [GRCh38]
Chr5:112102984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1341T>A (p.Cys447Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336172]|Familial multiple polyposis syndrome [RCV000761223]|Hereditary cancer-predisposing syndrome [RCV002386324] Chr5:112821924 [GRCh38]
Chr5:112157621 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5570C>A (p.Ser1857Ter) single nucleotide variant not provided [RCV000758735] Chr5:112841164 [GRCh38]
Chr5:112176861 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2109A>C (p.Ala703=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234121]|not provided [RCV000759421] Chr5:112837703 [GRCh38]
Chr5:112173400 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7897G>C (p.Gly2633Arg) single nucleotide variant not provided [RCV000759447] Chr5:112843491 [GRCh38]
Chr5:112179188 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3533A>G (p.Asp1178Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553968] Chr5:112839127 [GRCh38]
Chr5:112174824 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6457G>A (p.Asp2153Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649290]|Hereditary cancer-predisposing syndrome [RCV002363586] Chr5:112842051 [GRCh38]
Chr5:112177748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.86A>T (p.Asp29Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552598]|Hereditary cancer-predisposing syndrome [RCV002372798] Chr5:112754976 [GRCh38]
Chr5:112090673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.57G>C (p.Glu19Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649373]|Hereditary cancer-predisposing syndrome [RCV002355078] Chr5:112754947 [GRCh38]
Chr5:112090644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8237T>G (p.Val2746Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649293]|Hereditary cancer-predisposing syndrome [RCV003307833] Chr5:112843831 [GRCh38]
Chr5:112179528 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6577_6579del (p.Lys2193del) deletion Familial adenomatous polyposis 1 [RCV003649308] Chr5:112842167..112842169 [GRCh38]
Chr5:112177864..112177866 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.362G>A (p.Arg121Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537458]|Hereditary cancer-predisposing syndrome [RCV001186320]|not provided [RCV002479387] Chr5:112767330 [GRCh38]
Chr5:112103027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4881A>T (p.Gln1627His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649298] Chr5:112840475 [GRCh38]
Chr5:112176172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3896C>T (p.Ala1299Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649299] Chr5:112839490 [GRCh38]
Chr5:112175187 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7120A>T (p.Ser2374Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649376] Chr5:112842714 [GRCh38]
Chr5:112178411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.248C>T (p.Pro83Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537448] Chr5:112767216 [GRCh38]
Chr5:112102913 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6999A>T (p.Arg2333Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649378]|Hereditary cancer-predisposing syndrome [RCV002365763] Chr5:112842593 [GRCh38]
Chr5:112178290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+33A>G single nucleotide variant not provided [RCV001546489]|not specified [RCV002268511] Chr5:112835198 [GRCh38]
Chr5:112170895 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+829A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003769509]|Hereditary cancer-predisposing syndrome [RCV001019183] Chr5:112816422 [GRCh38]
Chr5:112152119 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1626+299C>G single nucleotide variant not provided [RCV001570287] Chr5:112828305 [GRCh38]
Chr5:112164002 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.(?_112707312)_(112828982_?)dup duplication Familial adenomatous polyposis 1 [RCV001031303]|Familial adenomatous polyposis 1 [RCV001862443] Chr5:112043009..112164679 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.260T>G (p.Leu87Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552589]|Hereditary cancer-predisposing syndrome [RCV002429613] Chr5:112767228 [GRCh38]
Chr5:112102925 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112827098)_(112827257_?)del deletion Familial adenomatous polyposis 1 [RCV001031614]|Familial adenomatous polyposis 1 [RCV001862445] Chr5:112162795..112162954 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3594A>G (p.Ser1198=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020678] Chr5:112839188 [GRCh38]
Chr5:112174885 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1448G>A (p.Cys483Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537449]|Hereditary cancer-predisposing syndrome [RCV003160340]|not provided [RCV003313174] Chr5:112827147 [GRCh38]
Chr5:112162844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1138C>T (p.Arg380Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002290571]|Familial adenomatous polyposis 1 [RCV003649303]|Hereditary cancer-predisposing syndrome [RCV001524601] Chr5:112819170 [GRCh38]
Chr5:112154867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3650A>T (p.Asn1217Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769532]|Hereditary cancer-predisposing syndrome [RCV001020803] Chr5:112839244 [GRCh38]
Chr5:112174941 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3192G>T (p.Glu1064Asp) single nucleotide variant not provided [RCV001284350] Chr5:112838786 [GRCh38]
Chr5:112174483 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7619_7623del (p.Pro2540fs) deletion not provided [RCV000998417] Chr5:112843211..112843215 [GRCh38]
Chr5:112178908..112178912 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1408+1061A>T single nucleotide variant not provided [RCV001690903] Chr5:112823052 [GRCh38]
Chr5:112158749 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.3165_3168del (p.Ile1055fs) deletion Familial adenomatous polyposis 1 [RCV003337352] Chr5:112838759..112838762 [GRCh38]
Chr5:112174456..112174459 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.84A>G (p.Glu28=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235755] Chr5:112754974 [GRCh38]
Chr5:112090671 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.960A>G (p.Ser320=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000866373]|Hereditary cancer-predisposing syndrome [RCV002381939] Chr5:112818992 [GRCh38]
Chr5:112154689 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1077T>A (p.Leu359=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649166]|Hereditary cancer-predisposing syndrome [RCV001524531] Chr5:112819109 [GRCh38]
Chr5:112154806 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8118G>C (p.Val2706=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235175]|Hereditary cancer-predisposing syndrome [RCV001027194] Chr5:112843712 [GRCh38]
Chr5:112179409 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5823A>C (p.Pro1941=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549578]|Hereditary cancer-predisposing syndrome [RCV001180621] Chr5:112841417 [GRCh38]
Chr5:112177114 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7905A>G (p.Thr2635=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235988] Chr5:112843499 [GRCh38]
Chr5:112179196 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7011T>C (p.Ser2337=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235629]|Hereditary cancer-predisposing syndrome [RCV003584779] Chr5:112842605 [GRCh38]
Chr5:112178302 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6375T>C (p.Ser2125=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537361]|Hereditary cancer-predisposing syndrome [RCV002354804] Chr5:112841969 [GRCh38]
Chr5:112177666 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7782T>G (p.Ser2594=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235709] Chr5:112843376 [GRCh38]
Chr5:112179073 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3084T>C (p.Ser1028=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235666]|Hereditary cancer-predisposing syndrome [RCV002320098] Chr5:112838678 [GRCh38]
Chr5:112174375 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2799C>T (p.Asn933=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649162] Chr5:112838393 [GRCh38]
Chr5:112174090 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5964A>G (p.Lys1988=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236031] Chr5:112841558 [GRCh38]
Chr5:112177255 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5940C>T (p.Asn1980=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235630]|Hereditary cancer-predisposing syndrome [RCV002258049] Chr5:112841534 [GRCh38]
Chr5:112177231 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2634G>A (p.Leu878=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537339]|Hereditary cancer-predisposing syndrome [RCV001016180] Chr5:112838228 [GRCh38]
Chr5:112173925 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7300A>C (p.Arg2434=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537377]|Hereditary cancer-predisposing syndrome [RCV002382161] Chr5:112842894 [GRCh38]
Chr5:112178591 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.210G>A (p.Glu70=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744670]|Hereditary cancer-predisposing syndrome [RCV001014463] Chr5:112766400 [GRCh38]
Chr5:112102097 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2895T>C (p.Asn965=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537342]|Hereditary cancer-predisposing syndrome [RCV003338866] Chr5:112838489 [GRCh38]
Chr5:112174186 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.281_282del (p.Arg94fs) deletion Familial adenomatous polyposis 1 [RCV000755038] Chr5:112767249..112767250 [GRCh38]
Chr5:112102946..112102947 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.672C>A (p.Ile224=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001156935]|Familial adenomatous polyposis 1 [RCV003537345]|Hereditary cancer-predisposing syndrome [RCV001025582] Chr5:112792472 [GRCh38]
Chr5:112128169 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.351A>C (p.Ser117=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235991] Chr5:112767319 [GRCh38]
Chr5:112103016 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5958T>G (p.Pro1986=) single nucleotide variant not provided [RCV000924294] Chr5:112841552 [GRCh38]
Chr5:112177249 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1941T>A (p.Ala647=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744678]|Hereditary cancer-predisposing syndrome [RCV001013790] Chr5:112835148 [GRCh38]
Chr5:112170845 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5709C>T (p.Asn1903=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649165] Chr5:112841303 [GRCh38]
Chr5:112177000 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5976C>G (p.Pro1992=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235671] Chr5:112841570 [GRCh38]
Chr5:112177267 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3315G>T (p.Arg1105=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544974] Chr5:112838909 [GRCh38]
Chr5:112174606 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2013T>G (p.Ser671=) single nucleotide variant APC-related condition [RCV003955617]|Familial adenomatous polyposis 1 [RCV002235154]|Hereditary cancer-predisposing syndrome [RCV001014083] Chr5:112837607 [GRCh38]
Chr5:112173304 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.642A>C (p.Ala214=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649167]|Hereditary cancer-predisposing syndrome [RCV002363508] Chr5:112780900 [GRCh38]
Chr5:112116597 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1560C>T (p.Cys520=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537337] Chr5:112827940 [GRCh38]
Chr5:112163637 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3913G>A (p.Ala1305Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768937]|Hereditary cancer-predisposing syndrome [RCV001524516] Chr5:112839507 [GRCh38]
Chr5:112175204 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3551_3559delinsTTTCTG (p.Ala1184_Ile1187delinsValSerVal) indel Hereditary cancer-predisposing syndrome [RCV001020588] Chr5:112839145..112839153 [GRCh38]
Chr5:112174842..112174850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2968G>A (p.Asp990Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649331] Chr5:112838562 [GRCh38]
Chr5:112174259 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5203G>A (p.Gly1735Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649332]|Hereditary cancer-predisposing syndrome [RCV002339266]|not provided [RCV003322846] Chr5:112840797 [GRCh38]
Chr5:112176494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.554C>T (p.Thr185Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553376]|Hereditary cancer-predisposing syndrome [RCV002348426] Chr5:112780812 [GRCh38]
Chr5:112116509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1212C>G (p.Ile404Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649261] Chr5:112819244 [GRCh38]
Chr5:112154941 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.521T>G (p.Leu174Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553298] Chr5:112775727 [GRCh38]
Chr5:112111424 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1409-10T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003649342] Chr5:112827098 [GRCh38]
Chr5:112162795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6664C>T (p.Pro2222Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552495]|Hereditary cancer-predisposing syndrome [RCV001186951] Chr5:112842258 [GRCh38]
Chr5:112177955 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3839del (p.Leu1280fs) deletion Familial adenomatous polyposis 1 [RCV003337349] Chr5:112839431 [GRCh38]
Chr5:112175128 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3224del (p.Tyr1075fs) deletion Familial adenomatous polyposis 1 [RCV002554440]|Familial adenomatous polyposis 1 [RCV003337350] Chr5:112838818 [GRCh38]
Chr5:112174515 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1661G>A (p.Arg554Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553074]|Familial adenomatous polyposis 1 [RCV003537447]|Hereditary cancer-predisposing syndrome [RCV002400243] Chr5:112828890 [GRCh38]
Chr5:112164587 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1972_1973delinsAT (p.Glu658Met) indel Familial adenomatous polyposis 1 [RCV003649353]|Hereditary cancer-predisposing syndrome [RCV001190023]|not provided [RCV003442181] Chr5:112837566..112837567 [GRCh38]
Chr5:112173263..112173264 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1821T>G (p.Cys607Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553917] Chr5:112835028 [GRCh38]
Chr5:112170725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3229G>A (p.Val1077Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240410] Chr5:112838823 [GRCh38]
Chr5:112174520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3016del (p.His1006fs) deletion Familial adenomatous polyposis 1 [RCV002240259] Chr5:112838608 [GRCh38]
Chr5:112174305 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6433G>A (p.Gly2145Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240411] Chr5:112842027 [GRCh38]
Chr5:112177724 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3379C>T (p.Gln1127Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336302]|Hereditary cancer-predisposing syndrome [RCV002451265] Chr5:112838973 [GRCh38]
Chr5:112174670 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.(?_112779849)_(112844136_?)dup duplication Familial adenomatous polyposis 1 [RCV001033218]|Familial adenomatous polyposis 1 [RCV001873437] Chr5:112115546..112179833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1042del (p.Arg348fs) deletion Familial adenomatous polyposis 1 [RCV002552501]|Familial adenomatous polyposis 1 [RCV003649288] Chr5:112819074 [GRCh38]
Chr5:112154771 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6491G>A (p.Gly2164Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233755]|not provided [RCV000758736] Chr5:112842085 [GRCh38]
Chr5:112177782 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-9A>C single nucleotide variant not provided [RCV000759430] Chr5:112775620 [GRCh38]
Chr5:112111317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6361G>C (p.Ala2121Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534755]|Hereditary cancer-predisposing syndrome [RCV000777107]|not provided [RCV000759441] Chr5:112841955 [GRCh38]
Chr5:112177652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1479C>T (p.Tyr493=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768277]|Hereditary cancer-predisposing syndrome [RCV002388379]|not provided [RCV000758721] Chr5:112827178 [GRCh38]
Chr5:112162875 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1613A>T (p.Glu538Val) single nucleotide variant APC-related condition [RCV003892687]|Familial adenomatous polyposis 1 [RCV003534753]|Hereditary cancer-predisposing syndrome [RCV001012424]|not provided [RCV000759414] Chr5:112827993 [GRCh38]
Chr5:112163690 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.3724C>G (p.Gln1242Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653274]|Hereditary cancer-predisposing syndrome [RCV000777307]|not provided [RCV000759425] Chr5:112839318 [GRCh38]
Chr5:112175015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.449A>T (p.Lys150Ile) single nucleotide variant not provided [RCV000759432] Chr5:112775655 [GRCh38]
Chr5:112111352 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5272T>C (p.Ser1758Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553363]|Familial adenomatous polyposis 1 [RCV003649345]|Hereditary cancer-predisposing syndrome [RCV001177021]|not specified [RCV003493787] Chr5:112840866 [GRCh38]
Chr5:112176563 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.341C>G (p.Pro114Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554396]|not provided [RCV001796358] Chr5:112767309 [GRCh38]
Chr5:112103006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3584T>A (p.Phe1195Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553081]|Hereditary cancer-predisposing syndrome [RCV002339205] Chr5:112839178 [GRCh38]
Chr5:112174875 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2942C>T (p.Pro981Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240615] Chr5:112838536 [GRCh38]
Chr5:112174233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.875del (p.Val291_Leu292insTer) deletion Familial adenomatous polyposis 1 [RCV001061786]|Familial adenomatous polyposis 1 [RCV003336299] Chr5:112815532 [GRCh38]
Chr5:112151229 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7415C>G (p.Ala2472Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649335]|Hereditary cancer-predisposing syndrome [RCV003363080] Chr5:112843009 [GRCh38]
Chr5:112178706 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2824A>T (p.Asn942Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553847] Chr5:112838418 [GRCh38]
Chr5:112174115 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1809del (p.Ala604fs) deletion Familial adenomatous polyposis 1 [RCV002553909] Chr5:112835014 [GRCh38]
Chr5:112170711 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6063C>A (p.Phe2021Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553911] Chr5:112841657 [GRCh38]
Chr5:112177354 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2717C>G (p.Ser906Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649321] Chr5:112838311 [GRCh38]
Chr5:112174008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2762C>G (p.Ala921Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239290]|Hereditary cancer-predisposing syndrome [RCV002434446]|not provided [RCV003478668] Chr5:112838356 [GRCh38]
Chr5:112174053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6589A>G (p.Ser2197Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553758]|Hereditary cancer-predisposing syndrome [RCV002374919] Chr5:112842183 [GRCh38]
Chr5:112177880 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8209G>A (p.Glu2737Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003103903]|Familial adenomatous polyposis 1 [RCV003473625]|Hereditary cancer-predisposing syndrome [RCV002409397] Chr5:112843803 [GRCh38]
Chr5:112179500 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8480G>T (p.Gly2827Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002555880] Chr5:112844074 [GRCh38]
Chr5:112179771 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3845C>G (p.Ser1282Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239374] Chr5:112839439 [GRCh38]
Chr5:112175136 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5156A>G (p.Glu1719Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649327]|Hereditary cancer-predisposing syndrome [RCV001192294] Chr5:112840750 [GRCh38]
Chr5:112176447 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8332G>A (p.Ala2778Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649330] Chr5:112843926 [GRCh38]
Chr5:112179623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7426A>G (p.Arg2476Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239294]|Hereditary cancer-predisposing syndrome [RCV002379495] Chr5:112843020 [GRCh38]
Chr5:112178717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8254A>G (p.Asn2752Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239330] Chr5:112843848 [GRCh38]
Chr5:112179545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7475C>G (p.Ser2492Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649315]|Hereditary cancer-predisposing syndrome [RCV002393237] Chr5:112843069 [GRCh38]
Chr5:112178766 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4159T>C (p.Cys1387Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552098]|Hereditary cancer-predisposing syndrome [RCV001183092] Chr5:112839753 [GRCh38]
Chr5:112175450 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.10G>A (p.Ala4Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744680]|Hereditary cancer-predisposing syndrome [RCV003169522]|not provided [RCV000985280] Chr5:112754900 [GRCh38]
Chr5:112090597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1115A>G (p.Asn372Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434370]|not provided [RCV000985281]|not specified [RCV003155332] Chr5:112819147 [GRCh38]
Chr5:112154844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1229del (p.Leu410fs) deletion Familial adenomatous polyposis 1 [RCV002549638]|Familial adenomatous polyposis 1 [RCV003537383]|Hereditary cancer-predisposing syndrome [RCV002363511]|not provided [RCV000985282] Chr5:112819258 [GRCh38]
Chr5:112154955 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1815T>C (p.Asp605=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769287]|Hereditary cancer-predisposing syndrome [RCV001013291]|not provided [RCV000985287] Chr5:112835022 [GRCh38]
Chr5:112170719 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2939_2940del (p.Lys980fs) deletion Familial adenomatous polyposis 1 [RCV003744681]|not provided [RCV000985293] Chr5:112838532..112838533 [GRCh38]
Chr5:112174229..112174230 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3259C>T (p.Leu1087Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649170]|not provided [RCV000985294] Chr5:112838853 [GRCh38]
Chr5:112174550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3444T>C (p.Ser1148=) single nucleotide variant not provided [RCV000985296] Chr5:112839038 [GRCh38]
Chr5:112174735 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.83A>G (p.Glu28Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553860]|Familial adenomatous polyposis 1 [RCV003649357] Chr5:112754973 [GRCh38]
Chr5:112090670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2486del (p.Thr829fs) deletion Familial adenomatous polyposis 1 [RCV003316939] Chr5:112838080 [GRCh38]
Chr5:112173777 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4172G>A (p.Ser1391Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649316] Chr5:112839766 [GRCh38]
Chr5:112175463 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1600A>G (p.Lys534Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650595] Chr5:112827980 [GRCh38]
Chr5:112163677 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3765C>T (p.Asn1255=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649171]|Hereditary cancer-predisposing syndrome [RCV001177949]|not provided [RCV000985298] Chr5:112839359 [GRCh38]
Chr5:112175056 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4563A>G (p.Glu1521=) single nucleotide variant not provided [RCV000985304] Chr5:112840157 [GRCh38]
Chr5:112175854 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5080G>A (p.Gly1694Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549641]|not provided [RCV000985306] Chr5:112840674 [GRCh38]
Chr5:112176371 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5118A>G (p.Ser1706=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346191]|not provided [RCV000985307] Chr5:112840712 [GRCh38]
Chr5:112176409 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5222T>G (p.Phe1741Cys) single nucleotide variant not provided [RCV000985308] Chr5:112840816 [GRCh38]
Chr5:112176513 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5831G>A (p.Gly1944Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003467535]|Familial adenomatous polyposis 1 [RCV003744682]|Hereditary cancer-predisposing syndrome [RCV001024583]|not provided [RCV000985309] Chr5:112841425 [GRCh38]
Chr5:112177122 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5986del (p.Gln1996fs) deletion not provided [RCV000985311] Chr5:112841580 [GRCh38]
Chr5:112177277 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6081C>A (p.Leu2027=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649172]|not provided [RCV000985312] Chr5:112841675 [GRCh38]
Chr5:112177372 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6230C>T (p.Thr2077Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744683]|Hereditary cancer-predisposing syndrome [RCV001025030]|not provided [RCV000985313] Chr5:112841824 [GRCh38]
Chr5:112177521 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7738T>G (p.Ser2580Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649173]|Hereditary cancer-predisposing syndrome [RCV002400156]|not provided [RCV000985322] Chr5:112843332 [GRCh38]
Chr5:112179029 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8005C>A (p.Pro2669Thr) single nucleotide variant not provided [RCV000985323] Chr5:112843599 [GRCh38]
Chr5:112179296 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8219C>T (p.Pro2740Leu) single nucleotide variant not provided [RCV000985325] Chr5:112843813 [GRCh38]
Chr5:112179510 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1297C>G (p.Gln433Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649278] Chr5:112819329 [GRCh38]
Chr5:112155026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3176A>T (p.Glu1059Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551405]|Familial adenomatous polyposis 1 [RCV003537444]|Hereditary cancer-predisposing syndrome [RCV001183770] Chr5:112838770 [GRCh38]
Chr5:112174467 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7672C>A (p.Leu2558Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649333] Chr5:112843266 [GRCh38]
Chr5:112178963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112815485)_(112822001_?)del deletion Familial adenomatous polyposis 1 [RCV001032364] Chr5:112151182..112157698 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4667C>G (p.Thr1556Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649309]|Hereditary cancer-predisposing syndrome [RCV002339237] Chr5:112840261 [GRCh38]
Chr5:112175958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2475T>G (p.Tyr825Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649289] Chr5:112838069 [GRCh38]
Chr5:112173766 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7092G>A (p.Met2364Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649358] Chr5:112842686 [GRCh38]
Chr5:112178383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6271G>A (p.Gly2091Ser) single nucleotide variant Carcinoma of colon [RCV001354861]|Familial adenomatous polyposis 1 [RCV003650596] Chr5:112841865 [GRCh38]
Chr5:112177562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.23A>G (p.Gln8Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649274]|Hereditary cancer-predisposing syndrome [RCV002445215] Chr5:112754913 [GRCh38]
Chr5:112090610 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.124T>G (p.Ser42Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002555874]|Hereditary cancer-predisposing syndrome [RCV001806012] Chr5:112755014 [GRCh38]
Chr5:112090711 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4126T>C (p.Tyr1376His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240346]|Hereditary cancer-predisposing syndrome [RCV002255614] Chr5:112839720 [GRCh38]
Chr5:112175417 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5185_5188del (p.Asn1729fs) deletion Familial adenomatous polyposis 1 [RCV003336296] Chr5:112840776..112840779 [GRCh38]
Chr5:112176473..112176476 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3410A>G (p.Asp1137Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002237133]|Hereditary cancer-predisposing syndrome [RCV003307810] Chr5:112839004 [GRCh38]
Chr5:112174701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1696G>A (p.Val566Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV001037696] Chr5:112828925 [GRCh38]
Chr5:112164622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.56A>C (p.Glu19Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649361] Chr5:112754946 [GRCh38]
Chr5:112090643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7606C>A (p.Pro2536Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649362] Chr5:112843200 [GRCh38]
Chr5:112178897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7609_7611del (p.Ser2537del) deletion Familial adenomatous polyposis 1 [RCV003649329]|Hereditary cancer-predisposing syndrome [RCV001190727] Chr5:112843201..112843203 [GRCh38]
Chr5:112178898..112178900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2024_2025dup (p.Ile676fs) duplication Familial adenomatous polyposis 1 [RCV003649340] Chr5:112837616..112837617 [GRCh38]
Chr5:112173313..112173314 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2638A>G (p.Ile880Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649286]|Hereditary cancer-predisposing syndrome [RCV002427499] Chr5:112838232 [GRCh38]
Chr5:112173929 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2435A>G (p.Asp812Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649341]|Hereditary cancer-predisposing syndrome [RCV001188833] Chr5:112838029 [GRCh38]
Chr5:112173726 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7129A>C (p.Asn2377His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649349]|Hereditary cancer-predisposing syndrome [RCV002374935] Chr5:112842723 [GRCh38]
Chr5:112178420 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5594T>C (p.Leu1865Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649351]|Hereditary cancer-predisposing syndrome [RCV002348422] Chr5:112841188 [GRCh38]
Chr5:112176885 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1412G>A (p.Gly471Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649363] Chr5:112827111 [GRCh38]
Chr5:112162808 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8162G>T (p.Arg2721Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649268]|not provided [RCV003151829] Chr5:112843756 [GRCh38]
Chr5:112179453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1799C>G (p.Thr600Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537450] Chr5:112835006 [GRCh38]
Chr5:112170703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+416C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV000987548] Chr5:112738341 [GRCh38]
Chr5:112074038 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.331A>G (p.Ser111Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987549]|Hereditary cancer-predisposing syndrome [RCV001184638] Chr5:112767299 [GRCh38]
Chr5:112102996 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-4dup duplication Desmoid disease, hereditary [RCV002489457]|Familial adenomatous polyposis 1 [RCV000987550]|Hereditary cancer-predisposing syndrome [RCV002256640]|not specified [RCV001579624] Chr5:112775612..112775613 [GRCh38]
Chr5:112111309..112111310 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.737C>T (p.Ser246Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987553]|Hereditary cancer-predisposing syndrome [RCV001180006] Chr5:112801286 [GRCh38]
Chr5:112136983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1176C>G (p.His392Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987556]|Hereditary cancer-predisposing syndrome [RCV001176396] Chr5:112819208 [GRCh38]
Chr5:112154905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1266G>C (p.Glu422Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987557] Chr5:112819298 [GRCh38]
Chr5:112154995 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1467_1479del (p.Asn490fs) deletion Familial adenomatous polyposis 1 [RCV000987558]|not provided [RCV001356693] Chr5:112827163..112827175 [GRCh38]
Chr5:112162860..112162872 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.1773C>G (p.Ala591=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987560]|Familial adenomatous polyposis 1 [RCV003649174]|Hereditary cancer-predisposing syndrome [RCV002400162] Chr5:112834980 [GRCh38]
Chr5:112170677 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2281G>C (p.Glu761Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987562] Chr5:112837875 [GRCh38]
Chr5:112173572 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2334_2337del (p.Asn778fs) deletion Familial adenomatous polyposis 1 [RCV000987563] Chr5:112837927..112837930 [GRCh38]
Chr5:112173624..112173627 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2623A>G (p.Lys875Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987565] Chr5:112838217 [GRCh38]
Chr5:112173914 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2776T>A (p.Ser926Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987566]|Familial adenomatous polyposis 1 [RCV003744684]|Hereditary cancer-predisposing syndrome [RCV002434374]|not provided [RCV003227880] Chr5:112838370 [GRCh38]
Chr5:112174067 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4203dup (p.Ala1402fs) duplication Familial adenomatous polyposis 1 [RCV000987570]|Familial adenomatous polyposis 1 [RCV003769297] Chr5:112839795..112839796 [GRCh38]
Chr5:112175492..112175493 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4483dup (p.Ser1495fs) duplication Familial adenomatous polyposis 1 [RCV000987574] Chr5:112840074..112840075 [GRCh38]
Chr5:112175771..112175772 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4805C>A (p.Pro1602His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987575] Chr5:112840399 [GRCh38]
Chr5:112176096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4994C>A (p.Pro1665His) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987576] Chr5:112840588 [GRCh38]
Chr5:112176285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6577A>C (p.Lys2193Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987578]|Hereditary cancer-predisposing syndrome [RCV002363513] Chr5:112842171 [GRCh38]
Chr5:112177868 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7793C>T (p.Thr2598Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987587]|Familial adenomatous polyposis 1 [RCV003537384]|Hereditary cancer-predisposing syndrome [RCV003584792] Chr5:112843387 [GRCh38]
Chr5:112179084 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8038C>A (p.Pro2680Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987589]|Familial adenomatous polyposis 1 [RCV003649175] Chr5:112843632 [GRCh38]
Chr5:112179329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8250G>C (p.Glu2750Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV000987591] Chr5:112843844 [GRCh38]
Chr5:112179541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*409_*414dup duplication Familial adenomatous polyposis 1 [RCV000987592] Chr5:112844531..112844532 [GRCh38]
Chr5:112180228..112180229 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-9T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003649280] Chr5:112801270 [GRCh38]
Chr5:112136967 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6571G>A (p.Gly2191Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653320]|Hereditary cancer-predisposing syndrome [RCV000777454] Chr5:112842165 [GRCh38]
Chr5:112177862 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5333C>G (p.Pro1778Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV001788346]|Hereditary cancer-predisposing syndrome [RCV000777483] Chr5:112840927 [GRCh38]
Chr5:112176624 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1442T>C (p.Val481Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535845]|Hereditary cancer-predisposing syndrome [RCV000777506] Chr5:112827141 [GRCh38]
Chr5:112162838 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6169A>C (p.Lys2057Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535847]|Hereditary cancer-predisposing syndrome [RCV000777564] Chr5:112841763 [GRCh38]
Chr5:112177460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8178T>A (p.Ile2726=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234169]|Hereditary cancer-predisposing syndrome [RCV000777565] Chr5:112843772 [GRCh38]
Chr5:112179469 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6780C>T (p.Ser2260=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535848]|Hereditary cancer-predisposing syndrome [RCV000777580] Chr5:112842374 [GRCh38]
Chr5:112178071 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1030T>A (p.Cys344Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653321]|Hereditary cancer-predisposing syndrome [RCV000777638] Chr5:112819062 [GRCh38]
Chr5:112154759 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5326G>C (p.Val1776Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777890] Chr5:112840920 [GRCh38]
Chr5:112176617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7863T>A (p.Ser2621=) single nucleotide variant not specified [RCV000779716] Chr5:112843457 [GRCh38]
Chr5:112179154 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.933+7G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003768451]|not specified [RCV000779733] Chr5:112815600 [GRCh38]
Chr5:112151297 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4973G>C (p.Ser1658Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584740]|not specified [RCV000779740] Chr5:112840567 [GRCh38]
Chr5:112176264 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6092G>C (p.Ser2031Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535863]|Hereditary cancer-predisposing syndrome [RCV003584748] Chr5:112841686 [GRCh38]
Chr5:112177383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4091GTG[1] (p.Gly1365del) microsatellite not specified [RCV000779719] Chr5:112839685..112839687 [GRCh38]
Chr5:112175382..112175384 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6793C>G (p.Gln2265Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535968]|Hereditary cancer-predisposing syndrome [RCV001025651] Chr5:112842387 [GRCh38]
Chr5:112178084 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+6A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003768454]|not specified [RCV000780842] Chr5:112828012 [GRCh38]
Chr5:112163709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5152_5153delinsA (p.Ala1718fs) indel Familial multiple polyposis syndrome [RCV000780846] Chr5:112840746..112840747 [GRCh38]
Chr5:112176443..112176444 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4361A>T (p.Lys1454Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776414] Chr5:112839955 [GRCh38]
Chr5:112175652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8317C>A (p.Pro2773Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776563] Chr5:112843911 [GRCh38]
Chr5:112179608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6912T>C (p.Ser2304=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653311]|Hereditary cancer-predisposing syndrome [RCV000776633] Chr5:112842506 [GRCh38]
Chr5:112178203 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.116C>G (p.Thr39Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768406]|Hereditary cancer-predisposing syndrome [RCV000776690] Chr5:112755006 [GRCh38]
Chr5:112090703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1865A>G (p.Tyr622Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776740] Chr5:112835072 [GRCh38]
Chr5:112170769 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6757C>T (p.Leu2253Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653313]|Hereditary cancer-predisposing syndrome [RCV000776788] Chr5:112842351 [GRCh38]
Chr5:112178048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1977C>A (p.Asn659Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744650]|Hereditary cancer-predisposing syndrome [RCV000776806]|not specified [RCV003226386] Chr5:112837571 [GRCh38]
Chr5:112173268 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+10A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653314]|Hereditary cancer-predisposing syndrome [RCV000776821] Chr5:112766420 [GRCh38]
Chr5:112102117 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7794C>G (p.Thr2598=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233807]|Hereditary cancer-predisposing syndrome [RCV000776922]|not provided [RCV000862200] Chr5:112843388 [GRCh38]
Chr5:112179085 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1959-17T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776927] Chr5:112837536 [GRCh38]
Chr5:112173233 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4097C>T (p.Ala1366Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776948]|not provided [RCV001759465] Chr5:112839691 [GRCh38]
Chr5:112175388 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6965A>C (p.Gln2322Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536715]|Hereditary cancer-predisposing syndrome [RCV000777106] Chr5:112842559 [GRCh38]
Chr5:112178256 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6462A>G (p.Gln2154=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535840]|Hereditary cancer-predisposing syndrome [RCV000777145] Chr5:112842056 [GRCh38]
Chr5:112177753 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7575C>T (p.Arg2525=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744653]|Hereditary cancer-predisposing syndrome [RCV000777289] Chr5:112843169 [GRCh38]
Chr5:112178866 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4070G>A (p.Gly1357Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777343] Chr5:112839664 [GRCh38]
Chr5:112175361 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.123A>G (p.Ala41=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002535609]|Familial adenomatous polyposis 1 [RCV003535843]|Hereditary cancer-predisposing syndrome [RCV000777406] Chr5:112755013 [GRCh38]
Chr5:112090710 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1638T>C (p.Ser546=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653319]|Hereditary cancer-predisposing syndrome [RCV000777439]|not provided [RCV000985286] Chr5:112828867 [GRCh38]
Chr5:112164564 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6812C>G (p.Pro2271Arg) single nucleotide variant not specified [RCV000779710] Chr5:112842406 [GRCh38]
Chr5:112178103 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.863C>T (p.Thr288Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV001535581]|Familial adenomatous polyposis 1 [RCV003653367]|Hereditary cancer-predisposing syndrome [RCV002442703] Chr5:112815523 [GRCh38]
Chr5:112151220 [GRCh37]
Chr5:5q22.2		 uncertain significance|not provided
NM_000038.6(APC):c.3837_3845dup (p.1277_1279LSS[3]) duplication Hereditary cancer-predisposing syndrome [RCV002352297]|not specified [RCV000780857] Chr5:112839425..112839426 [GRCh38]
Chr5:112175122..112175123 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4054_4063del (p.Val1352fs) deletion Familial multiple polyposis syndrome [RCV000780858] Chr5:112839647..112839656 [GRCh38]
Chr5:112175344..112175353 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5688C>G (p.Ser1896Arg) single nucleotide variant not specified [RCV000780863] Chr5:112841282 [GRCh38]
Chr5:112176979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1579A>G (p.Arg527Gly) single nucleotide variant not specified [RCV000780868] Chr5:112827959 [GRCh38]
Chr5:112163656 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4109A>G (p.Lys1370Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653275]|Hereditary cancer-predisposing syndrome [RCV001021884]|not provided [RCV000759429] Chr5:112839703 [GRCh38]
Chr5:112175400 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1198G>A (p.Gly400Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002533821]|Familial adenomatous polyposis 1 [RCV003653273]|Hereditary cancer-predisposing syndrome [RCV002343611]|not provided [RCV000758719] Chr5:112819230 [GRCh38]
Chr5:112154927 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1643dup (p.Leu548fs) duplication not provided [RCV000759415] Chr5:112828868..112828869 [GRCh38]
Chr5:112164565..112164566 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2114G>A (p.Ser705Asn) single nucleotide variant Desmoid disease, hereditary [RCV002485968]|Familial adenomatous polyposis 1 [RCV002533825]|Hereditary cancer-predisposing syndrome [RCV001188847]|not provided [RCV000759422] Chr5:112837708 [GRCh38]
Chr5:112173405 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.3721G>A (p.Gly1241Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584739]|not provided [RCV000759424] Chr5:112839315 [GRCh38]
Chr5:112175012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.636dup (p.Arg213fs) duplication Familial adenomatous polyposis 1 [RCV003336170]|not provided [RCV000759440] Chr5:112780889..112780890 [GRCh38]
Chr5:112116586..112116587 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6948_6959del (p.Leu2317_Pro2320del) deletion Hereditary cancer-predisposing syndrome [RCV000773805] Chr5:112842539..112842550 [GRCh38]
Chr5:112178236..112178247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.170_175del (p.Asp57_Glu58del) deletion APC-related condition [RCV003392586]|Familial adenomatous polyposis 1 [RCV003768349]|Hereditary cancer-predisposing syndrome [RCV000773868] Chr5:112766355..112766360 [GRCh38]
Chr5:112102052..112102057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8439_8441del (p.Lys2815del) deletion Familial adenomatous polyposis 1 [RCV003535833]|Hereditary cancer-predisposing syndrome [RCV000775357] Chr5:112844033..112844035 [GRCh38]
Chr5:112179730..112179732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7250C>T (p.Ser2417Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653323] Chr5:112842844 [GRCh38]
Chr5:112178541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8299T>C (p.Ser2767Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653324]|Hereditary cancer-predisposing syndrome [RCV002424791] Chr5:112843893 [GRCh38]
Chr5:112179590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2390dup (p.Gly797_Asp798insTer) duplication Hereditary cancer-predisposing syndrome [RCV000772557] Chr5:112837982..112837983 [GRCh38]
Chr5:112173679..112173680 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5614G>A (p.Val1872Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535990]|Hereditary cancer-predisposing syndrome [RCV001024330]|not specified [RCV001174882] Chr5:112841208 [GRCh38]
Chr5:112176905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-18T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003768398]|Hereditary cancer-predisposing syndrome [RCV000776168] Chr5:112792428 [GRCh38]
Chr5:112128125 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7238A>C (p.Lys2413Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776424] Chr5:112842832 [GRCh38]
Chr5:112178529 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3376A>T (p.Ser1126Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001856132]|Hereditary cancer-predisposing syndrome [RCV000776622] Chr5:112838970 [GRCh38]
Chr5:112174667 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6355G>T (p.Ala2119Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768407]|Hereditary cancer-predisposing syndrome [RCV000776736] Chr5:112841949 [GRCh38]
Chr5:112177646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4556A>T (p.Asp1519Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744649]|Hereditary cancer-predisposing syndrome [RCV000776799] Chr5:112840150 [GRCh38]
Chr5:112175847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3377G>A (p.Ser1126Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653316]|Hereditary cancer-predisposing syndrome [RCV000776910] Chr5:112838971 [GRCh38]
Chr5:112174668 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5566T>C (p.Phe1856Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777027] Chr5:112841160 [GRCh38]
Chr5:112176857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4551G>T (p.Gln1517His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744652]|Hereditary cancer-predisposing syndrome [RCV000777139] Chr5:112840145 [GRCh38]
Chr5:112175842 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.320C>G (p.Ser107Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535842]|Hereditary cancer-predisposing syndrome [RCV000777304] Chr5:112767288 [GRCh38]
Chr5:112102985 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6315G>A (p.Gln2105=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768418]|Hereditary cancer-predisposing syndrome [RCV000777384] Chr5:112841909 [GRCh38]
Chr5:112177606 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1542C>A (p.Ala514=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777433] Chr5:112827241 [GRCh38]
Chr5:112162938 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1223A>T (p.His408Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744655]|Hereditary cancer-predisposing syndrome [RCV000777499] Chr5:112819255 [GRCh38]
Chr5:112154952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4818A>G (p.Ala1606=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744656]|Hereditary cancer-predisposing syndrome [RCV000777517] Chr5:112840412 [GRCh38]
Chr5:112176109 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7014T>A (p.Pro2338=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777522] Chr5:112842608 [GRCh38]
Chr5:112178305 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4320A>T (p.Pro1440=) single nucleotide variant not specified [RCV000779734] Chr5:112839914 [GRCh38]
Chr5:112175611 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1958+1_1958+2dup duplication Familial multiple polyposis syndrome [RCV000780852]|Hereditary cancer-predisposing syndrome [RCV002422669]|not provided [RCV001354694] Chr5:112835165..112835166 [GRCh38]
Chr5:112170862..112170863 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.7171_7173del (p.Ile2391del) deletion Familial adenomatous polyposis 1 [RCV003768335]|Hereditary cancer-predisposing syndrome [RCV000772985] Chr5:112842764..112842766 [GRCh38]
Chr5:112178461..112178463 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3317del (p.Gly1106fs) deletion Familial adenomatous polyposis 1 [RCV003535814]|Hereditary cancer-predisposing syndrome [RCV000772369] Chr5:112838908 [GRCh38]
Chr5:112174605 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7032A>C (p.Gln2344His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002538058] Chr5:112842626 [GRCh38]
Chr5:112178323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112090578)_(112111444_?)dup duplication Familial adenomatous polyposis 1 [RCV000813971] Chr5:112754881..112775747 [GRCh38]
Chr5:112090578..112111444 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.47T>C (p.Leu16Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535961] Chr5:112754937 [GRCh38]
Chr5:112090634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2693A>C (p.His898Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653362] Chr5:112838287 [GRCh38]
Chr5:112173984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+14C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000771665] Chr5:112775751 [GRCh38]
Chr5:112111448 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4278C>T (p.Ser1426=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744631]|Hereditary cancer-predisposing syndrome [RCV000771679] Chr5:112839872 [GRCh38]
Chr5:112175569 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3980C>T (p.Ser1327Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744632]|Hereditary cancer-predisposing syndrome [RCV000771750] Chr5:112839574 [GRCh38]
Chr5:112175271 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6956G>A (p.Arg2319Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003465691]|Hereditary cancer-predisposing syndrome [RCV000772285] Chr5:112842550 [GRCh38]
Chr5:112178247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5101C>G (p.Gln1701Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772383] Chr5:112840695 [GRCh38]
Chr5:112176392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6176A>T (p.Asp2059Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773041] Chr5:112841770 [GRCh38]
Chr5:112177467 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6814A>G (p.Arg2272Gly) single nucleotide variant APC-Associated Polyposis Disorders [RCV001151803]|Familial adenomatous polyposis 1 [RCV003744641]|Hereditary cancer-predisposing syndrome [RCV000773320]|not provided [RCV001508530] Chr5:112842408 [GRCh38]
Chr5:112178105 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2571A>G (p.Gly857=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535820]|Hereditary cancer-predisposing syndrome [RCV000773643] Chr5:112838165 [GRCh38]
Chr5:112173862 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.78G>A (p.Glu26=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233780]|Hereditary cancer-predisposing syndrome [RCV000773727] Chr5:112754968 [GRCh38]
Chr5:112090665 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4249A>G (p.Ile1417Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773757] Chr5:112839843 [GRCh38]
Chr5:112175540 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8464A>C (p.Ser2822Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773813] Chr5:112844058 [GRCh38]
Chr5:112179755 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1712C>T (p.Ala571Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534107]|Hereditary cancer-predisposing syndrome [RCV000773975] Chr5:112828941 [GRCh38]
Chr5:112164638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+17T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774147] Chr5:112780920 [GRCh38]
Chr5:112116617 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1386T>C (p.His462=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774271] Chr5:112821969 [GRCh38]
Chr5:112157666 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5021G>C (p.Gly1674Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774872] Chr5:112840615 [GRCh38]
Chr5:112176312 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-9T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002536694]|Hereditary cancer-predisposing syndrome [RCV000775123]|not specified [RCV001192913] Chr5:112801270 [GRCh38]
Chr5:112136967 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1359A>G (p.Leu453=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535829]|Hereditary cancer-predisposing syndrome [RCV000775128]|not provided [RCV003478464] Chr5:112821942 [GRCh38]
Chr5:112157639 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2203G>C (p.Ala735Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653299]|Hereditary cancer-predisposing syndrome [RCV000775134] Chr5:112837797 [GRCh38]
Chr5:112173494 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4242A>G (p.Val1414=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653303]|Hereditary cancer-predisposing syndrome [RCV000775329] Chr5:112839836 [GRCh38]
Chr5:112175533 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6374C>G (p.Ser2125Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653304]|Hereditary cancer-predisposing syndrome [RCV000775339]|not provided [RCV001759457] Chr5:112841968 [GRCh38]
Chr5:112177665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7750G>A (p.Ala2584Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653306]|Hereditary cancer-predisposing syndrome [RCV000775350]|not provided [RCV001566386] Chr5:112843344 [GRCh38]
Chr5:112179041 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7773T>C (p.His2591=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234158]|Hereditary cancer-predisposing syndrome [RCV000775351] Chr5:112843367 [GRCh38]
Chr5:112179064 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8165T>C (p.Leu2722Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233799]|Hereditary cancer-predisposing syndrome [RCV000775354] Chr5:112843759 [GRCh38]
Chr5:112179456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8497C>T (p.Arg2833Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653307]|Hereditary cancer-predisposing syndrome [RCV000775359] Chr5:112844091 [GRCh38]
Chr5:112179788 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3911T>C (p.Ile1304Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768396]|Hereditary cancer-predisposing syndrome [RCV000775685] Chr5:112839505 [GRCh38]
Chr5:112175202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5942A>C (p.Asn1981Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775825] Chr5:112841536 [GRCh38]
Chr5:112177233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.892C>T (p.His298Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002535551]|Familial adenomatous polyposis 1 [RCV003535834]|Hereditary cancer-predisposing syndrome [RCV000775871] Chr5:112815552 [GRCh38]
Chr5:112151249 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5665G>A (p.Glu1889Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653308]|Hereditary cancer-predisposing syndrome [RCV000776215] Chr5:112841259 [GRCh38]
Chr5:112176956 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4053T>C (p.Ala1351=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768402]|Hereditary cancer-predisposing syndrome [RCV000776507] Chr5:112839647 [GRCh38]
Chr5:112175344 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6785G>A (p.Ser2262Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002535566]|Hereditary cancer-predisposing syndrome [RCV000776547] Chr5:112842379 [GRCh38]
Chr5:112178076 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5795C>G (p.Thr1932Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744648]|Hereditary cancer-predisposing syndrome [RCV000776593] Chr5:112841389 [GRCh38]
Chr5:112177086 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.585A>G (p.Gln195=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776654] Chr5:112780843 [GRCh38]
Chr5:112116540 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4238T>C (p.Met1413Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV001070761]|Hereditary cancer-predisposing syndrome [RCV000776731] Chr5:112839832 [GRCh38]
Chr5:112175529 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6256C>A (p.Pro2086Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535835]|Hereditary cancer-predisposing syndrome [RCV000776785] Chr5:112841850 [GRCh38]
Chr5:112177547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4383A>G (p.Glu1461=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768408]|Hereditary cancer-predisposing syndrome [RCV000776807] Chr5:112839977 [GRCh38]
Chr5:112175674 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3345G>T (p.Val1115=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535836]|Hereditary cancer-predisposing syndrome [RCV000776815] Chr5:112838939 [GRCh38]
Chr5:112174636 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7869A>G (p.Thr2623=) single nucleotide variant Carcinoma of colon [RCV001354138]|Familial adenomatous polyposis 1 [RCV003653315]|Hereditary cancer-predisposing syndrome [RCV000776837]|not provided [RCV003478472] Chr5:112843463 [GRCh38]
Chr5:112179160 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5577T>C (p.Asn1859=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768410]|Hereditary cancer-predisposing syndrome [RCV000776883] Chr5:112841171 [GRCh38]
Chr5:112176868 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6788A>T (p.Glu2263Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776908] Chr5:112842382 [GRCh38]
Chr5:112178079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5033G>A (p.Gly1678Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768411]|Hereditary cancer-predisposing syndrome [RCV000776918] Chr5:112840627 [GRCh38]
Chr5:112176324 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8486A>G (p.Gln2829Arg) single nucleotide variant APC-related condition [RCV003396348]|Familial adenomatous polyposis 1 [RCV002535584]|Familial adenomatous polyposis 1 [RCV003535838]|Hereditary cancer-predisposing syndrome [RCV000776937] Chr5:112844080 [GRCh38]
Chr5:112179777 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.26_27insTTTA (p.Leu9fs) insertion Hereditary cancer-predisposing syndrome [RCV000776995] Chr5:112754916..112754917 [GRCh38]
Chr5:112090613..112090614 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.1245T>G (p.Ala415=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777074] Chr5:112819277 [GRCh38]
Chr5:112154974 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6184A>C (p.Lys2062Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744651]|Hereditary cancer-predisposing syndrome [RCV000777098] Chr5:112841778 [GRCh38]
Chr5:112177475 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7363A>C (p.Lys2455Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768416]|Hereditary cancer-predisposing syndrome [RCV000777147] Chr5:112842957 [GRCh38]
Chr5:112178654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+18T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535841]|Hereditary cancer-predisposing syndrome [RCV000777288] Chr5:112801401 [GRCh38]
Chr5:112137098 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7411C>G (p.Pro2471Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653317]|Hereditary cancer-predisposing syndrome [RCV000777308]|not provided [RCV000985319] Chr5:112843005 [GRCh38]
Chr5:112178702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3592T>G (p.Ser1198Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777353] Chr5:112839186 [GRCh38]
Chr5:112174883 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5218C>G (p.Pro1740Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777387] Chr5:112840812 [GRCh38]
Chr5:112176509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-20A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003768419]|Hereditary cancer-predisposing syndrome [RCV000777397] Chr5:112827909 [GRCh38]
Chr5:112163606 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3220A>C (p.Thr1074Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744654]|Hereditary cancer-predisposing syndrome [RCV000777441] Chr5:112838814 [GRCh38]
Chr5:112174511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6114G>T (p.Leu2038=) single nucleotide variant not provided [RCV000924865]|not specified [RCV003493758] Chr5:112841708 [GRCh38]
Chr5:112177405 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3486T>C (p.Tyr1162=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649161]|Hereditary cancer-predisposing syndrome [RCV001020419] Chr5:112839080 [GRCh38]
Chr5:112174777 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-5A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003649164]|Hereditary cancer-predisposing syndrome [RCV001011054] Chr5:112766321 [GRCh38]
Chr5:112102018 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3072A>G (p.Pro1024=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235633] Chr5:112838666 [GRCh38]
Chr5:112174363 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3309G>A (p.Arg1103=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537367] Chr5:112838903 [GRCh38]
Chr5:112174600 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8208T>C (p.Thr2736=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236030] Chr5:112843802 [GRCh38]
Chr5:112179499 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6231A>C (p.Thr2077=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537373]|Hereditary cancer-predisposing syndrome [RCV002363446] Chr5:112841825 [GRCh38]
Chr5:112177522 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5496T>C (p.Asp1832=) single nucleotide variant Familial adenomatous polyposis 1 [RCV001356626]|Familial adenomatous polyposis 1 [RCV002235669]|Hereditary cancer-predisposing syndrome [RCV001190271] Chr5:112841090 [GRCh38]
Chr5:112176787 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3030T>C (p.Ser1010=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235986]|Hereditary cancer-predisposing syndrome [RCV002434361] Chr5:112838624 [GRCh38]
Chr5:112174321 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3684G>A (p.Gln1228=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537344] Chr5:112839278 [GRCh38]
Chr5:112174975 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7878T>C (p.Thr2626=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548436] Chr5:112843472 [GRCh38]
Chr5:112179169 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2031C>G (p.Val677=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537327]|Hereditary cancer-predisposing syndrome [RCV002416123] Chr5:112837625 [GRCh38]
Chr5:112173322 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5217G>A (p.Lys1739=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235974] Chr5:112840811 [GRCh38]
Chr5:112176508 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6093T>C (p.Ser2031=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550539] Chr5:112841687 [GRCh38]
Chr5:112177384 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6936T>C (p.Pro2312=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235803]|Hereditary cancer-predisposing syndrome [RCV002256620] Chr5:112842530 [GRCh38]
Chr5:112178227 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5673G>A (p.Glu1891=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537334]|Hereditary cancer-predisposing syndrome [RCV001525130] Chr5:112841267 [GRCh38]
Chr5:112176964 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6156G>A (p.Lys2052=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002545961]|Hereditary cancer-predisposing syndrome [RCV002354826]|not specified [RCV002268373] Chr5:112841750 [GRCh38]
Chr5:112177447 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2877T>C (p.Ser959=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548429]|Hereditary cancer-predisposing syndrome [RCV003169499] Chr5:112838471 [GRCh38]
Chr5:112174168 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2187C>T (p.Leu729=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768727]|Hereditary cancer-predisposing syndrome [RCV002427223] Chr5:112837781 [GRCh38]
Chr5:112173478 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1101T>G (p.Ser367=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544622]|Hereditary cancer-predisposing syndrome [RCV002427366] Chr5:112819133 [GRCh38]
Chr5:112154830 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7683A>G (p.Val2561=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548431]|Hereditary cancer-predisposing syndrome [RCV002400141] Chr5:112843277 [GRCh38]
Chr5:112178974 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2517A>C (p.Gly839=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235964] Chr5:112838111 [GRCh38]
Chr5:112173808 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7302A>G (p.Arg2434=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537376] Chr5:112842896 [GRCh38]
Chr5:112178593 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6957A>G (p.Arg2319=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235734] Chr5:112842551 [GRCh38]
Chr5:112178248 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6186A>G (p.Lys2062=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537324]|Hereditary cancer-predisposing syndrome [RCV001024979] Chr5:112841780 [GRCh38]
Chr5:112177477 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6834G>A (p.Val2278=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236034] Chr5:112842428 [GRCh38]
Chr5:112178125 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1752C>T (p.Thr584=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235680]|Hereditary cancer-predisposing syndrome [RCV002409208] Chr5:112834959 [GRCh38]
Chr5:112170656 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6993T>C (p.Pro2331=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235681]|Hereditary cancer-predisposing syndrome [RCV001025888] Chr5:112842587 [GRCh38]
Chr5:112178284 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7560A>G (p.Gly2520=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537343]|Hereditary cancer-predisposing syndrome [RCV002390936] Chr5:112843154 [GRCh38]
Chr5:112178851 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2664C>T (p.Ala888=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549580]|not specified [RCV003493764] Chr5:112838258 [GRCh38]
Chr5:112173955 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7837A>C (p.Arg2613=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002539169]|Hereditary cancer-predisposing syndrome [RCV001805920] Chr5:112843431 [GRCh38]
Chr5:112179128 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6012A>T (p.Ala2004=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537372]|Hereditary cancer-predisposing syndrome [RCV002354821] Chr5:112841606 [GRCh38]
Chr5:112177303 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6189T>C (p.His2063=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002542257] Chr5:112841783 [GRCh38]
Chr5:112177480 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7215T>C (p.Asn2405=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537370]|Hereditary cancer-predisposing syndrome [RCV001026165] Chr5:112842809 [GRCh38]
Chr5:112178506 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4518G>A (p.Leu1506=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537330] Chr5:112840112 [GRCh38]
Chr5:112175809 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6207T>C (p.Gly2069=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537378] Chr5:112841801 [GRCh38]
Chr5:112177498 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7686C>T (p.Ser2562=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548427]|Hereditary cancer-predisposing syndrome [RCV002400139] Chr5:112843280 [GRCh38]
Chr5:112178977 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2829A>C (p.Ser943=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235810] Chr5:112838423 [GRCh38]
Chr5:112174120 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3201A>G (p.Gln1067=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649160]|Hereditary cancer-predisposing syndrome [RCV002320188] Chr5:112838795 [GRCh38]
Chr5:112174492 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.102T>C (p.Leu34=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544579]|Hereditary cancer-predisposing syndrome [RCV002382154] Chr5:112754992 [GRCh38]
Chr5:112090689 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4752A>G (p.Pro1584=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744677]|Hereditary cancer-predisposing syndrome [RCV002327195] Chr5:112840346 [GRCh38]
Chr5:112176043 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7588C>A (p.Arg2530=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235983]|Hereditary cancer-predisposing syndrome [RCV002391021] Chr5:112843182 [GRCh38]
Chr5:112178879 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5912C>A (p.Ser1971Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653276]|Hereditary cancer-predisposing syndrome [RCV001024677]|not provided [RCV000759435]|not specified [RCV000780848] Chr5:112841506 [GRCh38]
Chr5:112177203 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6474C>T (p.Pro2158=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653277]|Hereditary cancer-predisposing syndrome [RCV001025307]|not provided [RCV000759442] Chr5:112842068 [GRCh38]
Chr5:112177765 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+7G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002544941] Chr5:112815600 [GRCh38]
Chr5:112151297 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4842G>A (p.Val1614=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235732]|Hereditary cancer-predisposing syndrome [RCV002336980] Chr5:112840436 [GRCh38]
Chr5:112176133 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.92C>G (p.Ser31Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019131]|not provided [RCV002469324] Chr5:112754982 [GRCh38]
Chr5:112090679 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3051T>C (p.Asn1017=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000771413] Chr5:112838645 [GRCh38]
Chr5:112174342 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+4T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772259] Chr5:112755029 [GRCh38]
Chr5:112090726 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6788A>C (p.Glu2263Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653285]|Hereditary cancer-predisposing syndrome [RCV000772267] Chr5:112842382 [GRCh38]
Chr5:112178079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+18A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772505] Chr5:112815611 [GRCh38]
Chr5:112151308 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3200A>C (p.Gln1067Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772528] Chr5:112838794 [GRCh38]
Chr5:112174491 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2692_2693insT (p.His898fs) insertion Hereditary cancer-predisposing syndrome [RCV000772771] Chr5:112838286..112838287 [GRCh38]
Chr5:112173983..112173984 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3050A>T (p.Asn1017Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772883] Chr5:112838644 [GRCh38]
Chr5:112174341 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7406C>G (p.Ser2469Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744637]|Hereditary cancer-predisposing syndrome [RCV000772907] Chr5:112843000 [GRCh38]
Chr5:112178697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3984G>A (p.Gln1328=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772931] Chr5:112839578 [GRCh38]
Chr5:112175275 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6587A>G (p.Lys2196Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744639]|Hereditary cancer-predisposing syndrome [RCV000773173] Chr5:112842181 [GRCh38]
Chr5:112177878 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.551T>G (p.Met184Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773216] Chr5:112780809 [GRCh38]
Chr5:112116506 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8226A>C (p.Gln2742His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773242] Chr5:112843820 [GRCh38]
Chr5:112179517 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2614A>T (p.Thr872Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773250] Chr5:112838208 [GRCh38]
Chr5:112173905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.745A>G (p.Lys249Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535817]|Hereditary cancer-predisposing syndrome [RCV000773326] Chr5:112801294 [GRCh38]
Chr5:112136991 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7654A>G (p.Ser2552Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773365] Chr5:112843248 [GRCh38]
Chr5:112178945 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6855T>G (p.Val2285=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003153832]|Hereditary cancer-predisposing syndrome [RCV000773388] Chr5:112842449 [GRCh38]
Chr5:112178146 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4017T>A (p.Gly1339=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768341]|Hereditary cancer-predisposing syndrome [RCV000773444] Chr5:112839611 [GRCh38]
Chr5:112175308 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+4A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653289]|Hereditary cancer-predisposing syndrome [RCV000773448]|not provided [RCV001284728] Chr5:112815597 [GRCh38]
Chr5:112151294 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7255A>C (p.Met2419Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535818]|Hereditary cancer-predisposing syndrome [RCV000773472] Chr5:112842849 [GRCh38]
Chr5:112178546 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1524G>C (p.Leu508Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773487] Chr5:112827223 [GRCh38]
Chr5:112162920 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+11T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744642]|Hereditary cancer-predisposing syndrome [RCV000773543] Chr5:112792540 [GRCh38]
Chr5:112128237 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3174T>G (p.Asp1058Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768343]|Hereditary cancer-predisposing syndrome [RCV000773553] Chr5:112838768 [GRCh38]
Chr5:112174465 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4787A>C (p.Gln1596Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773567] Chr5:112840381 [GRCh38]
Chr5:112176078 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7342C>T (p.Pro2448Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534079]|Familial adenomatous polyposis 1 [RCV003653291]|Hereditary cancer-predisposing syndrome [RCV000773581]|not provided [RCV001548548] Chr5:112842936 [GRCh38]
Chr5:112178633 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1434A>C (p.Leu478Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773619] Chr5:112827133 [GRCh38]
Chr5:112162830 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1597C>A (p.Leu533Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV001856060]|Hereditary cancer-predisposing syndrome [RCV000773667]|not provided [RCV001775991] Chr5:112827977 [GRCh38]
Chr5:112163674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2424T>G (p.Asp808Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003465694]|Hereditary cancer-predisposing syndrome [RCV000773670] Chr5:112838018 [GRCh38]
Chr5:112173715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5761G>T (p.Gly1921Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768346]|Hereditary cancer-predisposing syndrome [RCV000773673]|not provided [RCV001759453]|not specified [RCV000825284] Chr5:112841355 [GRCh38]
Chr5:112177052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6524C>T (p.Thr2175Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534091]|Familial adenomatous polyposis 1 [RCV003535821]|Hereditary cancer-predisposing syndrome [RCV000773704] Chr5:112842118 [GRCh38]
Chr5:112177815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*2AG[2] microsatellite Hereditary cancer-predisposing syndrome [RCV000776175]|not provided [RCV001533826] Chr5:112844128..112844129 [GRCh38]
Chr5:112179825..112179826 [GRCh37]
Chr5:5q22.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.5941A>G (p.Asn1981Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773803] Chr5:112841535 [GRCh38]
Chr5:112177232 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5557C>T (p.Pro1853Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773812] Chr5:112841151 [GRCh38]
Chr5:112176848 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3754T>G (p.Ser1252Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773841] Chr5:112839348 [GRCh38]
Chr5:112175045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1723T>A (p.Cys575Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233782]|Hereditary cancer-predisposing syndrome [RCV000773874] Chr5:112828952 [GRCh38]
Chr5:112164649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3210T>A (p.Asn1070Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537403]|Hereditary cancer-predisposing syndrome [RCV001019267] Chr5:112838804 [GRCh38]
Chr5:112174501 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6766C>T (p.Pro2256Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234145]|Hereditary cancer-predisposing syndrome [RCV000773915] Chr5:112842360 [GRCh38]
Chr5:112178057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6914G>C (p.Arg2305Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534109]|Hereditary cancer-predisposing syndrome [RCV000774024] Chr5:112842508 [GRCh38]
Chr5:112178205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3507G>A (p.Glu1169=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774056] Chr5:112839101 [GRCh38]
Chr5:112174798 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2292A>G (p.Leu764=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535824]|Hereditary cancer-predisposing syndrome [RCV000774146] Chr5:112837886 [GRCh38]
Chr5:112173583 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5377G>C (p.Ala1793Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774246] Chr5:112840971 [GRCh38]
Chr5:112176668 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.794G>C (p.Gly265Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774525] Chr5:112801343 [GRCh38]
Chr5:112137040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5502C>T (p.Val1834=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653297]|Hereditary cancer-predisposing syndrome [RCV000774856] Chr5:112841096 [GRCh38]
Chr5:112176793 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.652A>G (p.Ile218Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744645]|Hereditary cancer-predisposing syndrome [RCV000775121]|not provided [RCV002272348] Chr5:112792452 [GRCh38]
Chr5:112128149 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.1626+8T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535830]|Hereditary cancer-predisposing syndrome [RCV000775133] Chr5:112828014 [GRCh38]
Chr5:112163711 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3494A>T (p.Lys1165Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002535521]|Hereditary cancer-predisposing syndrome [RCV000775139]|not provided [RCV002473129] Chr5:112839088 [GRCh38]
Chr5:112174785 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6900T>C (p.Ser2300=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653305]|Hereditary cancer-predisposing syndrome [RCV000775346]|not specified [RCV001000175] Chr5:112842494 [GRCh38]
Chr5:112178191 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7397C>T (p.Ser2466Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744647]|Hereditary cancer-predisposing syndrome [RCV000775348]|not provided [RCV001284369] Chr5:112842991 [GRCh38]
Chr5:112178688 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5778A>G (p.Ile1926Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535839]|Hereditary cancer-predisposing syndrome [RCV000776943]|not specified [RCV003226387] Chr5:112841372 [GRCh38]
Chr5:112177069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8244A>G (p.Val2748=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233810]|Hereditary cancer-predisposing syndrome [RCV000777108] Chr5:112843838 [GRCh38]
Chr5:112179535 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7930A>G (p.Ile2644Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653318]|Hereditary cancer-predisposing syndrome [RCV000777318] Chr5:112843524 [GRCh38]
Chr5:112179221 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7635A>G (p.Gly2545=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777390] Chr5:112843229 [GRCh38]
Chr5:112178926 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5162G>T (p.Gly1721Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773927] Chr5:112840756 [GRCh38]
Chr5:112176453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8456A>G (p.Lys2819Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773946] Chr5:112844050 [GRCh38]
Chr5:112179747 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3501T>C (p.Asn1167=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774017] Chr5:112839095 [GRCh38]
Chr5:112174792 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1620A>C (p.Leu540Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768359]|Hereditary cancer-predisposing syndrome [RCV000774055] Chr5:112828000 [GRCh38]
Chr5:112163697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+5T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774110] Chr5:112828011 [GRCh38]
Chr5:112163708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6017G>A (p.Gly2006Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768373]|Hereditary cancer-predisposing syndrome [RCV000774315] Chr5:112841611 [GRCh38]
Chr5:112177308 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6121G>C (p.Glu2041Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653295]|Hereditary cancer-predisposing syndrome [RCV000774503] Chr5:112841715 [GRCh38]
Chr5:112177412 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8029G>T (p.Gly2677Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774833] Chr5:112843623 [GRCh38]
Chr5:112179320 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3730C>T (p.Gln1244Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774953] Chr5:112839324 [GRCh38]
Chr5:112175021 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.273G>A (p.Met91Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534172]|Familial adenomatous polyposis 1 [RCV003535827]|Hereditary cancer-predisposing syndrome [RCV000775117] Chr5:112767241 [GRCh38]
Chr5:112102938 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6543A>G (p.Ile2181Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535844]|Hereditary cancer-predisposing syndrome [RCV000777444] Chr5:112842137 [GRCh38]
Chr5:112177834 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5804A>T (p.Gln1935Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777510] Chr5:112841398 [GRCh38]
Chr5:112177095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3016C>A (p.His1006Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003461046]|Familial adenomatous polyposis 1 [RCV003535846]|Hereditary cancer-predisposing syndrome [RCV000777553]|not provided [RCV001775996] Chr5:112838610 [GRCh38]
Chr5:112174307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3274C>T (p.His1092Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536725]|Hereditary cancer-predisposing syndrome [RCV000777879] Chr5:112838868 [GRCh38]
Chr5:112174565 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3144A>G (p.Arg1048=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773945] Chr5:112838738 [GRCh38]
Chr5:112174435 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4863A>G (p.Gln1621=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653296]|Hereditary cancer-predisposing syndrome [RCV000774822] Chr5:112840457 [GRCh38]
Chr5:112176154 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3325G>C (p.Gly1109Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535826]|Hereditary cancer-predisposing syndrome [RCV000774904] Chr5:112838919 [GRCh38]
Chr5:112174616 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5702C>A (p.Thr1901Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775334] Chr5:112841296 [GRCh38]
Chr5:112176993 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6770C>T (p.Ala2257Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768386]|Hereditary cancer-predisposing syndrome [RCV000775344] Chr5:112842364 [GRCh38]
Chr5:112178061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3854_3855dup (p.Glu1286fs) duplication Familial multiple polyposis syndrome [RCV000780837] Chr5:112839447..112839448 [GRCh38]
Chr5:112175144..112175145 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5097G>A (p.Glu1699=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234173]|Hereditary cancer-predisposing syndrome [RCV002334456]|not specified [RCV000780865] Chr5:112840691 [GRCh38]
Chr5:112176388 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7570A>C (p.Lys2524Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535812]|Hereditary cancer-predisposing syndrome [RCV000771700]|not provided [RCV001800868] Chr5:112843164 [GRCh38]
Chr5:112178861 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1959-18C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653281]|Hereditary cancer-predisposing syndrome [RCV000771736] Chr5:112837535 [GRCh38]
Chr5:112173232 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7173T>C (p.Ile2391=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772182] Chr5:112842767 [GRCh38]
Chr5:112178464 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6345A>G (p.Leu2115=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744633]|Hereditary cancer-predisposing syndrome [RCV000772211] Chr5:112841939 [GRCh38]
Chr5:112177636 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7709C>G (p.Ser2570Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772432] Chr5:112843303 [GRCh38]
Chr5:112179000 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2142G>A (p.Lys714=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768329]|Hereditary cancer-predisposing syndrome [RCV000772454] Chr5:112837736 [GRCh38]
Chr5:112173433 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7638C>T (p.Thr2546=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535815]|Hereditary cancer-predisposing syndrome [RCV000772553] Chr5:112843232 [GRCh38]
Chr5:112178929 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2524G>A (p.Asp842Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772696] Chr5:112838118 [GRCh38]
Chr5:112173815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6734C>T (p.Pro2245Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744638]|Hereditary cancer-predisposing syndrome [RCV000773024] Chr5:112842328 [GRCh38]
Chr5:112178025 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1319C>G (p.Ala440Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768337]|Hereditary cancer-predisposing syndrome [RCV000773026]|not specified [RCV000780850] Chr5:112821902 [GRCh38]
Chr5:112157599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1912A>C (p.Ile638Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744640]|Hereditary cancer-predisposing syndrome [RCV000773312]|not provided [RCV003322819] Chr5:112835119 [GRCh38]
Chr5:112170816 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6854T>C (p.Val2285Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653292]|Hereditary cancer-predisposing syndrome [RCV000773630] Chr5:112842448 [GRCh38]
Chr5:112178145 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8437A>T (p.Thr2813Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773698] Chr5:112844031 [GRCh38]
Chr5:112179728 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4595A>C (p.Asp1532Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534094]|Familial adenomatous polyposis 1 [RCV003535822]|Hereditary cancer-predisposing syndrome [RCV000773750] Chr5:112840189 [GRCh38]
Chr5:112175886 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5953G>A (p.Glu1985Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773775] Chr5:112841547 [GRCh38]
Chr5:112177244 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4042A>G (p.Arg1348Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768351]|Hereditary cancer-predisposing syndrome [RCV000773892] Chr5:112839636 [GRCh38]
Chr5:112175333 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7800A>C (p.Gln2600His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773930] Chr5:112843394 [GRCh38]
Chr5:112179091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4345A>C (p.Lys1449Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536668]|Hereditary cancer-predisposing syndrome [RCV000774020] Chr5:112839939 [GRCh38]
Chr5:112175636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2577T>C (p.Gly859=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535823]|Hereditary cancer-predisposing syndrome [RCV000774130] Chr5:112838171 [GRCh38]
Chr5:112173868 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4119T>G (p.Pro1373=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744644]|Hereditary cancer-predisposing syndrome [RCV000774534] Chr5:112839713 [GRCh38]
Chr5:112175410 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3401A>G (p.Asp1134Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774851] Chr5:112838995 [GRCh38]
Chr5:112174692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7888G>C (p.Val2630Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653298]|Hereditary cancer-predisposing syndrome [RCV000774876] Chr5:112843482 [GRCh38]
Chr5:112179179 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313T>C (p.Met438Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775127] Chr5:112821896 [GRCh38]
Chr5:112157593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3149C>G (p.Ala1050Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653300]|Hereditary cancer-predisposing syndrome [RCV000775138] Chr5:112838743 [GRCh38]
Chr5:112174440 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.512G>A (p.Ser171Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653301]|Hereditary cancer-predisposing syndrome [RCV000775321] Chr5:112775718 [GRCh38]
Chr5:112111415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4001C>G (p.Ser1334Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003461036]|Hereditary cancer-predisposing syndrome [RCV000775326] Chr5:112839595 [GRCh38]
Chr5:112175292 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.945G>A (p.Val315=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537404]|Hereditary cancer-predisposing syndrome [RCV001019370] Chr5:112818977 [GRCh38]
Chr5:112154674 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4468C>T (p.His1490Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653309]|Hereditary cancer-predisposing syndrome [RCV000776224] Chr5:112840062 [GRCh38]
Chr5:112175759 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6629C>T (p.Ser2210Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653310]|Hereditary cancer-predisposing syndrome [RCV000776338] Chr5:112842223 [GRCh38]
Chr5:112177920 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+16G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003768400]|Hereditary cancer-predisposing syndrome [RCV000776385]|not specified [RCV002268279] Chr5:112766426 [GRCh38]
Chr5:112102123 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5612A>T (p.Asp1871Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653312]|Hereditary cancer-predisposing syndrome [RCV000776777]|not provided [RCV002293480] Chr5:112841206 [GRCh38]
Chr5:112176903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.282T>C (p.Arg94=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535837]|Hereditary cancer-predisposing syndrome [RCV000776852] Chr5:112767250 [GRCh38]
Chr5:112102947 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3768A>G (p.Gln1256=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002233806]|Hereditary cancer-predisposing syndrome [RCV000776874] Chr5:112839362 [GRCh38]
Chr5:112175059 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8346T>G (p.Thr2782=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776988] Chr5:112843940 [GRCh38]
Chr5:112179637 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5507G>T (p.Gly1836Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777025] Chr5:112841101 [GRCh38]
Chr5:112176798 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7366T>A (p.Leu2456Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768417]|Hereditary cancer-predisposing syndrome [RCV000777363] Chr5:112842960 [GRCh38]
Chr5:112178657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.951A>G (p.Ser317=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744701]|Hereditary cancer-predisposing syndrome [RCV001019439] Chr5:112818983 [GRCh38]
Chr5:112154680 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3744T>A (p.Thr1248=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653293]|Hereditary cancer-predisposing syndrome [RCV000773934] Chr5:112839338 [GRCh38]
Chr5:112175035 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.734C>T (p.Ser245Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774057] Chr5:112801283 [GRCh38]
Chr5:112136980 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1383G>A (p.Glu461=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534133]|Hereditary cancer-predisposing syndrome [RCV000774311]|not provided [RCV000842685] Chr5:112821966 [GRCh38]
Chr5:112157663 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7583T>G (p.Ile2528Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535825]|Hereditary cancer-predisposing syndrome [RCV000774672] Chr5:112843177 [GRCh38]
Chr5:112178874 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3506A>C (p.Glu1169Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774843] Chr5:112839100 [GRCh38]
Chr5:112174797 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2333A>G (p.Asn778Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535831]|Hereditary cancer-predisposing syndrome [RCV000775135] Chr5:112837927 [GRCh38]
Chr5:112173624 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4167T>C (p.Ser1389=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653302]|Hereditary cancer-predisposing syndrome [RCV000775328] Chr5:112839761 [GRCh38]
Chr5:112175458 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4347G>A (p.Lys1449=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744646]|Hereditary cancer-predisposing syndrome [RCV000775330] Chr5:112839941 [GRCh38]
Chr5:112175638 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6406C>A (p.Leu2136Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775340] Chr5:112842000 [GRCh38]
Chr5:112177697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2800A>G (p.Thr934Ala) single nucleotide variant APC-related condition [RCV003411715]|Familial adenomatous polyposis 1 [RCV002535615]|Hereditary cancer-predisposing syndrome [RCV000777458] Chr5:112838394 [GRCh38]
Chr5:112174091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.390T>C (p.Ser130=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777626] Chr5:112767358 [GRCh38]
Chr5:112103055 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2707G>A (p.Asp903Asn) single nucleotide variant not specified [RCV000779730] Chr5:112838301 [GRCh38]
Chr5:112173998 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2893A>C (p.Asn965His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311053] Chr5:112838487 [GRCh38]
Chr5:112174184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5168T>A (p.Ile1723Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003311059] Chr5:112840762 [GRCh38]
Chr5:112176459 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.990G>T (p.Met330Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534752]|Hereditary cancer-predisposing syndrome [RCV001186558]|not provided [RCV000758746] Chr5:112819022 [GRCh38]
Chr5:112154719 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2074C>T (p.Pro692Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534754]|Hereditary cancer-predisposing syndrome [RCV001014333]|not provided [RCV000759418] Chr5:112837668 [GRCh38]
Chr5:112173365 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1971A>G (p.Arg657=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000771447] Chr5:112837565 [GRCh38]
Chr5:112173262 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4621C>A (p.Gln1541Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000771448] Chr5:112840215 [GRCh38]
Chr5:112175912 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2567G>A (p.Arg856His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536619]|Familial adenomatous polyposis 1 [RCV003653280]|Hereditary cancer-predisposing syndrome [RCV000771556]|not specified [RCV002268272] Chr5:112838161 [GRCh38]
Chr5:112173858 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8170T>G (p.Ser2724Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536620]|Hereditary cancer-predisposing syndrome [RCV000771662] Chr5:112843764 [GRCh38]
Chr5:112179461 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4047C>G (p.His1349Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534756]|Hereditary cancer-predisposing syndrome [RCV000771671] Chr5:112839641 [GRCh38]
Chr5:112175338 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-16A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534757]|Hereditary cancer-predisposing syndrome [RCV000771686] Chr5:112828840 [GRCh38]
Chr5:112164537 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5194A>T (p.Met1732Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536621]|Hereditary cancer-predisposing syndrome [RCV000771706] Chr5:112840788 [GRCh38]
Chr5:112176485 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1453A>C (p.Met485Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535813]|Hereditary cancer-predisposing syndrome [RCV000771742] Chr5:112827152 [GRCh38]
Chr5:112162849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2200C>T (p.Pro734Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653282]|Hereditary cancer-predisposing syndrome [RCV000771767] Chr5:112837794 [GRCh38]
Chr5:112173491 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8531A>G (p.Ter2844=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772160] Chr5:112844125 [GRCh38]
Chr5:112179822 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3243C>T (p.Ser1081=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653284]|Hereditary cancer-predisposing syndrome [RCV000772194] Chr5:112838837 [GRCh38]
Chr5:112174534 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.590G>T (p.Arg197Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772198] Chr5:112780848 [GRCh38]
Chr5:112116545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5019A>G (p.Glu1673=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772209] Chr5:112840613 [GRCh38]
Chr5:112176310 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5901C>T (p.Ser1967=) single nucleotide variant Carcinoma of colon [RCV001356527]|Familial adenomatous polyposis 1 [RCV003744634]|Hereditary cancer-predisposing syndrome [RCV000772251] Chr5:112841495 [GRCh38]
Chr5:112177192 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3368A>G (p.Gln1123Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768326]|Hereditary cancer-predisposing syndrome [RCV000772282] Chr5:112838962 [GRCh38]
Chr5:112174659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4355T>A (p.Val1452Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772303] Chr5:112839949 [GRCh38]
Chr5:112175646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1610G>C (p.Ser537Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772353] Chr5:112827990 [GRCh38]
Chr5:112163687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6745A>G (p.Lys2249Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653286]|Hereditary cancer-predisposing syndrome [RCV000772388]|not provided [RCV003235391] Chr5:112842339 [GRCh38]
Chr5:112178036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6988T>A (p.Ser2330Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772409] Chr5:112842582 [GRCh38]
Chr5:112178279 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5247G>A (p.Gln1749=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536630]|Hereditary cancer-predisposing syndrome [RCV000772445] Chr5:112840841 [GRCh38]
Chr5:112176538 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2883T>C (p.Asn961=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768331]|Hereditary cancer-predisposing syndrome [RCV000772521] Chr5:112838477 [GRCh38]
Chr5:112174174 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3762T>C (p.Ile1254=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772524] Chr5:112839356 [GRCh38]
Chr5:112175053 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3939T>C (p.Thr1313=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772569] Chr5:112839533 [GRCh38]
Chr5:112175230 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.32dup (p.Gln12fs) duplication Familial adenomatous polyposis 1 [RCV002534025]|Familial adenomatous polyposis 1 [RCV003535816]|Hereditary cancer-predisposing syndrome [RCV000772573] Chr5:112754919..112754920 [GRCh38]
Chr5:112090616..112090617 [GRCh37]
Chr5:5q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2850T>G (p.Pro950=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536633]|Hereditary cancer-predisposing syndrome [RCV000772581] Chr5:112838444 [GRCh38]
Chr5:112174141 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7061C>T (p.Ala2354Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234136]|Hereditary cancer-predisposing syndrome [RCV000772597] Chr5:112842655 [GRCh38]
Chr5:112178352 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5978C>G (p.Pro1993Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653287]|Hereditary cancer-predisposing syndrome [RCV000772707]|not provided [RCV003236841] Chr5:112841572 [GRCh38]
Chr5:112177269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7105C>G (p.Pro2369Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653288]|Hereditary cancer-predisposing syndrome [RCV000772793] Chr5:112842699 [GRCh38]
Chr5:112178396 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5884T>G (p.Cys1962Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772810] Chr5:112841478 [GRCh38]
Chr5:112177175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5176G>C (p.Glu1726Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772915] Chr5:112840770 [GRCh38]
Chr5:112176467 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6232C>T (p.Leu2078Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772955] Chr5:112841826 [GRCh38]
Chr5:112177523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+3A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002234139]|Hereditary cancer-predisposing syndrome [RCV000773149] Chr5:112767393 [GRCh38]
Chr5:112103090 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5167A>G (p.Ile1723Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537282] Chr5:112840761 [GRCh38]
Chr5:112176458 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4306del (p.Ser1436fs) deletion Familial adenomatous polyposis 1 [RCV003653350] Chr5:112839899 [GRCh38]
Chr5:112175596 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1993_1994del (p.Leu665fs) deletion Carcinoma of colon [RCV001355161]|Familial adenomatous polyposis 1 [RCV002534712]|Familial adenomatous polyposis 1 [RCV003535931] Chr5:112837586..112837587 [GRCh38]
Chr5:112173283..112173284 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.3311C>G (p.Ser1104Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535932] Chr5:112838905 [GRCh38]
Chr5:112174602 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3137del (p.Asn1046fs) deletion Familial adenomatous polyposis 1 [RCV003537283] Chr5:112838730 [GRCh38]
Chr5:112174427 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2587_2600del (p.Tyr863fs) deletion Familial adenomatous polyposis 1 [RCV003336197] Chr5:112838176..112838189 [GRCh38]
Chr5:112173873..112173886 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1241_1246delinsA (p.Arg414fs) indel Familial adenomatous polyposis 1 [RCV000806005]|Familial adenomatous polyposis 1 [RCV003535960] Chr5:112819273..112819278 [GRCh38]
Chr5:112154970..112154975 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4891_4894del (p.Ser1631fs) deletion Familial adenomatous polyposis 1 [RCV002535953]|Familial adenomatous polyposis 1 [RCV003537296]|Hereditary cancer-predisposing syndrome [RCV002336713]|not provided [RCV003128714] Chr5:112840482..112840485 [GRCh38]
Chr5:112176179..112176182 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2349A>G (p.Ala783=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537379]|Hereditary cancer-predisposing syndrome [RCV002445125] Chr5:112837943 [GRCh38]
Chr5:112173640 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3713G>C (p.Ser1238Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535858]|Hereditary cancer-predisposing syndrome [RCV002352315] Chr5:112839307 [GRCh38]
Chr5:112175004 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8329G>A (p.Val2777Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002538166]|Familial adenomatous polyposis 1 [RCV003536022]|Hereditary cancer-predisposing syndrome [RCV001017554] Chr5:112843923 [GRCh38]
Chr5:112179620 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6596_6605del (p.Ile2199fs) deletion Familial adenomatous polyposis 1 [RCV003653382] Chr5:112842189..112842198 [GRCh38]
Chr5:112177886..112177895 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4883A>C (p.Lys1628Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653394]|Hereditary cancer-predisposing syndrome [RCV003307533] Chr5:112840477 [GRCh38]
Chr5:112176174 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.115A>G (p.Thr39Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653395] Chr5:112755005 [GRCh38]
Chr5:112090702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2555T>G (p.Leu852Trp) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157042]|Familial adenomatous polyposis 1 [RCV003744664]|Hereditary cancer-predisposing syndrome [RCV001015946] Chr5:112838149 [GRCh38]
Chr5:112173846 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7462C>T (p.Leu2488Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535933]|Hereditary cancer-predisposing syndrome [RCV002255528] Chr5:112843056 [GRCh38]
Chr5:112178753 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.709T>A (p.Ser237Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535934]|Hereditary cancer-predisposing syndrome [RCV001026034] Chr5:112792509 [GRCh38]
Chr5:112128206 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3189_3192del (p.Glu1064fs) deletion Familial adenomatous polyposis 1 [RCV003336222] Chr5:112838781..112838784 [GRCh38]
Chr5:112174478..112174481 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6457G>T (p.Asp2153Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653329] Chr5:112842051 [GRCh38]
Chr5:112177748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7481C>G (p.Ser2494Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535888]|Hereditary cancer-predisposing syndrome [RCV002388453] Chr5:112843075 [GRCh38]
Chr5:112178772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8218C>A (p.Pro2740Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653383] Chr5:112843812 [GRCh38]
Chr5:112179509 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6886A>T (p.Ser2296Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535994] Chr5:112842480 [GRCh38]
Chr5:112178177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4096G>T (p.Ala1366Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535996]|Hereditary cancer-predisposing syndrome [RCV001525078] Chr5:112839690 [GRCh38]
Chr5:112175387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8122A>G (p.Asn2708Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535881]|Hereditary cancer-predisposing syndrome [RCV003166142] Chr5:112843716 [GRCh38]
Chr5:112179413 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2424_2514dup (p.Gly839Ter) duplication Familial adenomatous polyposis 1 [RCV003536016] Chr5:112838015..112838016 [GRCh38]
Chr5:112173712..112173713 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5691del (p.His1897fs) deletion Familial adenomatous polyposis 1 [RCV003336195] Chr5:112841285 [GRCh38]
Chr5:112176982 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7536T>G (p.Ser2512Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537299]|Hereditary cancer-predisposing syndrome [RCV002390703] Chr5:112843130 [GRCh38]
Chr5:112178827 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-6_1744-4delinsAG indel Familial adenomatous polyposis 1 [RCV000822854] Chr5:112834945..112834947 [GRCh38]
Chr5:112170642..112170644 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3445G>A (p.Glu1149Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002535965]|Familial adenomatous polyposis 1 [RCV003537300]|Hereditary cancer-predisposing syndrome [RCV001180318]|not provided [RCV003223684] Chr5:112839039 [GRCh38]
Chr5:112174736 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5179T>A (p.Cys1727Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537301] Chr5:112840773 [GRCh38]
Chr5:112176470 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.680A>G (p.Asp227Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535995]|Hereditary cancer-predisposing syndrome [RCV001185546] Chr5:112792480 [GRCh38]
Chr5:112128177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.135+6A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744667]|not provided [RCV000831555] Chr5:112755031 [GRCh38]
Chr5:112090728 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7086A>T (p.Gly2362=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535905]|Hereditary cancer-predisposing syndrome [RCV001026017] Chr5:112842680 [GRCh38]
Chr5:112178377 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5735C>G (p.Ala1912Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537273]|Hereditary cancer-predisposing syndrome [RCV002345876] Chr5:112841329 [GRCh38]
Chr5:112177026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3772A>G (p.Thr1258Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535920]|Hereditary cancer-predisposing syndrome [RCV003166201] Chr5:112839366 [GRCh38]
Chr5:112175063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6326A>G (p.Asn2109Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000802827]|Familial adenomatous polyposis 1 [RCV003535935]|Hereditary cancer-predisposing syndrome [RCV002352368] Chr5:112841920 [GRCh38]
Chr5:112177617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3797A>T (p.Asp1266Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535949]|Hereditary cancer-predisposing syndrome [RCV003307479] Chr5:112839391 [GRCh38]
Chr5:112175088 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5375A>G (p.Asn1792Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537302] Chr5:112840969 [GRCh38]
Chr5:112176666 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7977G>C (p.Val2659=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235711] Chr5:112843571 [GRCh38]
Chr5:112179268 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-148A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003768535] Chr5:112707570 [GRCh38]
Chr5:112043267 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4091G>A (p.Ser1364Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003141809]|Familial adenomatous polyposis 1 [RCV003744659]|Hereditary cancer-predisposing syndrome [RCV001021847]|not provided [RCV001550255] Chr5:112839685 [GRCh38]
Chr5:112175382 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.197T>C (p.Ile66Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537060]|Familial adenomatous polyposis 1 [RCV003535890]|Hereditary cancer-predisposing syndrome [RCV001013942] Chr5:112766387 [GRCh38]
Chr5:112102084 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7809A>C (p.Glu2603Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653372] Chr5:112843403 [GRCh38]
Chr5:112179100 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5038C>G (p.Gln1680Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV000814557]|Familial adenomatous polyposis 1 [RCV003653385]|Hereditary cancer-predisposing syndrome [RCV002345861] Chr5:112840632 [GRCh38]
Chr5:112176329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4564_4581dup (p.Leu1522_Pro1527dup) duplication Familial adenomatous polyposis 1 [RCV003535896]|not provided [RCV001283861] Chr5:112840156..112840157 [GRCh38]
Chr5:112175853..112175854 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1640T>G (p.Val547Gly) single nucleotide variant APC-related condition [RCV003396388]|Familial adenomatous polyposis 1 [RCV003535885]|Hereditary cancer-predisposing syndrome [RCV001012536] Chr5:112828869 [GRCh38]
Chr5:112164566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.685C>A (p.Leu229Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768497] Chr5:112792485 [GRCh38]
Chr5:112128182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1861dup (p.Thr621fs) duplication Familial adenomatous polyposis 1 [RCV002537423]|Familial adenomatous polyposis 1 [RCV003537274]|Hereditary cancer-predisposing syndrome [RCV003166370]|not provided [RCV000985288] Chr5:112835067..112835068 [GRCh38]
Chr5:112170764..112170765 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6677G>C (p.Arg2226Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535938]|Hereditary cancer-predisposing syndrome [RCV002360959] Chr5:112842271 [GRCh38]
Chr5:112177968 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3891T>G (p.Asp1297Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768542]|Hereditary cancer-predisposing syndrome [RCV001021373]|not specified [RCV003320761] Chr5:112839485 [GRCh38]
Chr5:112175182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.138A>C (p.Glu46Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653400]|Hereditary cancer-predisposing syndrome [RCV002390706] Chr5:112766328 [GRCh38]
Chr5:112102025 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5546T>C (p.Ile1849Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535997]|Hereditary cancer-predisposing syndrome [RCV002345835] Chr5:112841140 [GRCh38]
Chr5:112176837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2536del (p.Ser846fs) deletion Familial adenomatous polyposis 1 [RCV003336207] Chr5:112838129 [GRCh38]
Chr5:112173826 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1281T>A (p.His427Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535886]|Hereditary cancer-predisposing syndrome [RCV001010735] Chr5:112819313 [GRCh38]
Chr5:112155010 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4240del (p.Met1413_Val1414insTer) deletion Familial adenomatous polyposis 1 [RCV003337339]|Hereditary cancer-predisposing syndrome [RCV002332620] Chr5:112839833 [GRCh38]
Chr5:112175530 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6242A>G (p.Lys2081Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535909] Chr5:112841836 [GRCh38]
Chr5:112177533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+78A>G single nucleotide variant not provided [RCV000835968] Chr5:112829050 [GRCh38]
Chr5:112164747 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.104C>A (p.Thr35Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653396]|Hereditary cancer-predisposing syndrome [RCV002397704] Chr5:112754994 [GRCh38]
Chr5:112090691 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112766534C>G single nucleotide variant not provided [RCV000835993] Chr5:112102231 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3421A>T (p.Thr1141Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535952] Chr5:112839015 [GRCh38]
Chr5:112174712 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7240G>A (p.Val2414Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653403] Chr5:112842834 [GRCh38]
Chr5:112178531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5708A>T (p.Asn1903Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537304]|Hereditary cancer-predisposing syndrome [RCV001024437] Chr5:112841302 [GRCh38]
Chr5:112176999 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2556G>A (p.Leu852=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537363]|Hereditary cancer-predisposing syndrome [RCV002434261] Chr5:112838150 [GRCh38]
Chr5:112173847 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-142G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653331] Chr5:112707576 [GRCh38]
Chr5:112043273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112043009)_(112111444_?)dup duplication Familial adenomatous polyposis 1 [RCV000821942] Chr5:112707312..112775747 [GRCh38]
Chr5:112043009..112111444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-70A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537303] Chr5:112707648 [GRCh38]
Chr5:112043345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7703G>C (p.Gly2568Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534737]|Hereditary cancer-predisposing syndrome [RCV001026735] Chr5:112843297 [GRCh38]
Chr5:112178994 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6250C>G (p.Gln2084Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537191] Chr5:112841844 [GRCh38]
Chr5:112177541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1510G>A (p.Ala504Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537305] Chr5:112827209 [GRCh38]
Chr5:112162906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4739T>C (p.Ile1580Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653404] Chr5:112840333 [GRCh38]
Chr5:112176030 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5893C>G (p.His1965Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653368] Chr5:112841487 [GRCh38]
Chr5:112177184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7849G>C (p.Glu2617Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653376] Chr5:112843443 [GRCh38]
Chr5:112179140 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-108C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653340] Chr5:112707610 [GRCh38]
Chr5:112043307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2447C>T (p.Thr816Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535971]|Hereditary cancer-predisposing syndrome [RCV001183280] Chr5:112838041 [GRCh38]
Chr5:112173738 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112737024)_(112844136_?)del deletion Familial adenomatous polyposis 1 [RCV000813966]|Familial adenomatous polyposis 1 [RCV001869257] Chr5:112737024..112844136 [GRCh38]
Chr5:112072721..112179833 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30482G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003537264] Chr5:112707462 [GRCh38]
Chr5:112043159 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4742C>G (p.Ser1581Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535889]|Hereditary cancer-predisposing syndrome [RCV001022978]|not provided [RCV001548579] Chr5:112840336 [GRCh38]
Chr5:112176033 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4670T>C (p.Ile1557Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537275]|Hereditary cancer-predisposing syndrome [RCV001022878] Chr5:112840264 [GRCh38]
Chr5:112175961 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1389A>T (p.Arg463Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537276]|Hereditary cancer-predisposing syndrome [RCV001011325]|not provided [RCV003329346] Chr5:112821972 [GRCh38]
Chr5:112157669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1094A>G (p.Lys365Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653351]|Hereditary cancer-predisposing syndrome [RCV002453775] Chr5:112819126 [GRCh38]
Chr5:112154823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6286T>G (p.Ser2096Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535939] Chr5:112841880 [GRCh38]
Chr5:112177577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1936A>G (p.Ile646Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537306] Chr5:112835143 [GRCh38]
Chr5:112170840 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1630A>C (p.Ile544Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653405] Chr5:112828859 [GRCh38]
Chr5:112164556 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30575G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653344] Chr5:112707369 [GRCh38]
Chr5:112043066 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7790G>A (p.Gly2597Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535965]|Hereditary cancer-predisposing syndrome [RCV001026812] Chr5:112843384 [GRCh38]
Chr5:112179081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1186G>A (p.Asp396Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535974] Chr5:112819218 [GRCh38]
Chr5:112154915 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.466G>T (p.Asp156Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535975]|Hereditary cancer-predisposing syndrome [RCV002332653]|not provided [RCV003314648] Chr5:112775672 [GRCh38]
Chr5:112111369 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1753del (p.Leu585fs) deletion Familial adenomatous polyposis 1 [RCV002537258]|Familial adenomatous polyposis 1 [RCV003535977] Chr5:112834958 [GRCh38]
Chr5:112170655 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30511G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002234185] Chr5:112707433 [GRCh38]
Chr5:112043130 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30611G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002535863] Chr5:112707333 [GRCh38]
Chr5:112043030 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537333]|Familial adenomatous polyposis 1 [RCV003336208]|Hereditary cancer-predisposing syndrome [RCV001026699] Chr5:112843272 [GRCh38]
Chr5:112178969 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1057C>A (p.Leu353Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536028]|Hereditary cancer-predisposing syndrome [RCV002397686] Chr5:112819089 [GRCh38]
Chr5:112154786 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.871_885del (p.Val291_Ser295del) deletion Familial adenomatous polyposis 1 [RCV003653337] Chr5:112815528..112815542 [GRCh38]
Chr5:112151225..112151239 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2229del (p.Met743fs) deletion Familial adenomatous polyposis 1 [RCV003535891] Chr5:112837823 [GRCh38]
Chr5:112173520 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2902AGT[2] (p.Ser970del) microsatellite Familial adenomatous polyposis 1 [RCV003653347]|Hereditary cancer-predisposing syndrome [RCV001016904] Chr5:112838496..112838498 [GRCh38]
Chr5:112174193..112174195 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3793_3794insCTT (p.Glu1265delinsAlaTer) insertion Familial adenomatous polyposis 1 [RCV002235392]|not provided [RCV000985299] Chr5:112839387..112839388 [GRCh38]
Chr5:112175084..112175085 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2450G>T (p.Gly817Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537286] Chr5:112838044 [GRCh38]
Chr5:112173741 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4006A>T (p.Arg1336Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534748]|Familial adenomatous polyposis 1 [RCV003535940] Chr5:112839600 [GRCh38]
Chr5:112175297 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4848_4849dup (p.Leu1617fs) duplication Familial adenomatous polyposis 1 [RCV003535954] Chr5:112840441..112840442 [GRCh38]
Chr5:112176138..112176139 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8297G>A (p.Ser2766Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536018]|Hereditary cancer-predisposing syndrome [RCV001027370] Chr5:112843891 [GRCh38]
Chr5:112179588 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1828G>T (p.Asp610Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535966] Chr5:112835035 [GRCh38]
Chr5:112170732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6740C>G (p.Ser2247Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653364]|Hereditary cancer-predisposing syndrome [RCV002360985] Chr5:112842334 [GRCh38]
Chr5:112178031 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3329C>T (p.Ser1110Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535981]|Hereditary cancer-predisposing syndrome [RCV001019999] Chr5:112838923 [GRCh38]
Chr5:112174620 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1499A>G (p.Tyr500Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535983] Chr5:112827198 [GRCh38]
Chr5:112162895 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6244G>C (p.Asp2082His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002234181]|Hereditary cancer-predisposing syndrome [RCV002257954] Chr5:112841838 [GRCh38]
Chr5:112177535 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-115T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535864] Chr5:112707603 [GRCh38]
Chr5:112043300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-60G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653332] Chr5:112707658 [GRCh38]
Chr5:112043355 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112827098)_(112844136_?)del deletion Familial adenomatous polyposis 1 [RCV000794132] Chr5:112827098..112844136 [GRCh38]
Chr5:112162795..112179833 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8101C>G (p.Gln2701Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535894]|Hereditary cancer-predisposing syndrome [RCV003338805]|not provided [RCV003442081] Chr5:112843695 [GRCh38]
Chr5:112179392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6308C>T (p.Ala2103Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535895] Chr5:112841902 [GRCh38]
Chr5:112177599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7739C>T (p.Ser2580Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535922]|Hereditary cancer-predisposing syndrome [RCV002397619] Chr5:112843333 [GRCh38]
Chr5:112179030 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1849G>T (p.Val617Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535923] Chr5:112835056 [GRCh38]
Chr5:112170753 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.764ATG[1] (p.Asp256del) microsatellite Familial adenomatous polyposis 1 [RCV003537292] Chr5:112801313..112801315 [GRCh38]
Chr5:112137010..112137012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6421G>A (p.Gly2141Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535955]|Hereditary cancer-predisposing syndrome [RCV003307481] Chr5:112842015 [GRCh38]
Chr5:112177712 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3010C>G (p.Leu1004Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537310]|Hereditary cancer-predisposing syndrome [RCV002434033] Chr5:112838604 [GRCh38]
Chr5:112174301 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1688T>C (p.Leu563Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400173]|not provided [RCV000998411] Chr5:112828917 [GRCh38]
Chr5:112164614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3373G>A (p.Val1125Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649176]|Hereditary cancer-predisposing syndrome [RCV001020122]|not provided [RCV000998413] Chr5:112838967 [GRCh38]
Chr5:112174664 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6285T>C (p.Asp2095=) single nucleotide variant not provided [RCV000998415] Chr5:112841879 [GRCh38]
Chr5:112177576 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.56C>T (p.Pro19Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535956] Chr5:112707773 [GRCh38]
Chr5:112043470 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.77G>T (p.Ser26Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535958]|not provided [RCV003238231] Chr5:112707794 [GRCh38]
Chr5:112043491 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-83C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535976] Chr5:112707635 [GRCh38]
Chr5:112043332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2383C>G (p.Leu795Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002538043]|Hereditary cancer-predisposing syndrome [RCV001015351]|not specified [RCV000825285] Chr5:112837977 [GRCh38]
Chr5:112173674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4586A>G (p.Gln1529Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535898] Chr5:112840180 [GRCh38]
Chr5:112175877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.678G>C (p.Lys226Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535899] Chr5:112792478 [GRCh38]
Chr5:112128175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8298C>A (p.Ser2766Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535912] Chr5:112843892 [GRCh38]
Chr5:112179589 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8135C>T (p.Pro2712Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534689]|Familial adenomatous polyposis 1 [RCV003535924]|Hereditary cancer-predisposing syndrome [RCV001027211]|not provided [RCV001776015] Chr5:112843729 [GRCh38]
Chr5:112179426 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7803_7807del (p.Ser2601fs) deletion Familial adenomatous polyposis 1 [RCV003535941]|Hereditary cancer-predisposing syndrome [RCV001805871] Chr5:112843393..112843397 [GRCh38]
Chr5:112179090..112179094 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3877dup (p.Thr1293fs) duplication Familial adenomatous polyposis 1 [RCV003537294] Chr5:112839470..112839471 [GRCh38]
Chr5:112175167..112175168 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.516dup (p.Pro173fs) duplication Familial adenomatous polyposis 1 [RCV003336198] Chr5:112775720..112775721 [GRCh38]
Chr5:112111417..112111418 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30450A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535993] Chr5:112707494 [GRCh38]
Chr5:112043191 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-57G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653375] Chr5:112707661 [GRCh38]
Chr5:112043358 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1977_1978insTTTCT (p.Asn660fs) insertion Familial adenomatous polyposis 1 [RCV003535978] Chr5:112837571..112837572 [GRCh38]
Chr5:112173268..112173269 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2844_2847dup (p.Pro950fs) duplication Familial adenomatous polyposis 1 [RCV003336203] Chr5:112838437..112838438 [GRCh38]
Chr5:112174134..112174135 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2937G>T (p.Met979Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653370]|Hereditary cancer-predisposing syndrome [RCV002440729] Chr5:112838531 [GRCh38]
Chr5:112174228 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.53C>T (p.Pro18Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653342] Chr5:112707770 [GRCh38]
Chr5:112043467 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-28G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002234734] Chr5:112707690 [GRCh38]
Chr5:112043387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7376C>G (p.Ser2459Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653386]|Hereditary cancer-predisposing syndrome [RCV001026344] Chr5:112842970 [GRCh38]
Chr5:112178667 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2616_2617inv (p.Ser873Thr) inversion Familial adenomatous polyposis 1 [RCV003768525] Chr5:112838210..112838211 [GRCh38]
Chr5:112173907..112173908 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7106C>T (p.Pro2369Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653389]|Hereditary cancer-predisposing syndrome [RCV002363135]|not provided [RCV002286789] Chr5:112842700 [GRCh38]
Chr5:112178397 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6851C>A (p.Pro2284His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534905] Chr5:112842445 [GRCh38]
Chr5:112178142 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3860_3872dup (p.Gln1291delinsHisArgMetTer) duplication Familial adenomatous polyposis 1 [RCV003535942] Chr5:112839452..112839453 [GRCh38]
Chr5:112175149..112175150 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6222A>G (p.Glu2074=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535957] Chr5:112841816 [GRCh38]
Chr5:112177513 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NC_000005.10:g.112801269A>G single nucleotide variant not provided [RCV000840507] Chr5:112136966 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30545A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003536009] Chr5:112707399 [GRCh38]
Chr5:112043096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1479C>A (p.Tyr493Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535854] Chr5:112827178 [GRCh38]
Chr5:112162875 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30602T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535929] Chr5:112707342 [GRCh38]
Chr5:112043039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30630G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744658] Chr5:112707314 [GRCh38]
Chr5:112043011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.85G>T (p.Gly29Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535946] Chr5:112707802 [GRCh38]
Chr5:112043499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4006A>G (p.Arg1336Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536031]|Hereditary cancer-predisposing syndrome [RCV002352431]|not provided [RCV003156295] Chr5:112839600 [GRCh38]
Chr5:112175297 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.421A>C (p.Arg141=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535902]|Hereditary cancer-predisposing syndrome [RCV001177511] Chr5:112767389 [GRCh38]
Chr5:112103086 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2969A>G (p.Asp990Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653391]|Hereditary cancer-predisposing syndrome [RCV001190287] Chr5:112838563 [GRCh38]
Chr5:112174260 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3568T>G (p.Ser1190Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535927] Chr5:112839162 [GRCh38]
Chr5:112174859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6395C>G (p.Ser2132Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537288] Chr5:112841989 [GRCh38]
Chr5:112177686 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6007C>G (p.Gln2003Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653353]|Hereditary cancer-predisposing syndrome [RCV002352374] Chr5:112841601 [GRCh38]
Chr5:112177298 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5422A>G (p.Asn1808Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535943]|Hereditary cancer-predisposing syndrome [RCV001181767] Chr5:112841016 [GRCh38]
Chr5:112176713 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2490G>A (p.Val830=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177902]|not provided [RCV000976876] Chr5:112838084 [GRCh38]
Chr5:112173781 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4046A>G (p.His1349Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744661]|Hereditary cancer-predisposing syndrome [RCV003166316] Chr5:112839640 [GRCh38]
Chr5:112175337 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8368C>T (p.Pro2790Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002538126]|Hereditary cancer-predisposing syndrome [RCV001017609] Chr5:112843962 [GRCh38]
Chr5:112179659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5372A>C (p.Lys1791Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536013] Chr5:112840966 [GRCh38]
Chr5:112176663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8067G>C (p.Lys2689Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535986]|Hereditary cancer-predisposing syndrome [RCV002422775] Chr5:112843661 [GRCh38]
Chr5:112179358 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2149A>G (p.Met717Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535851]|not provided [RCV003327462] Chr5:112837743 [GRCh38]
Chr5:112173440 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30591dup duplication Familial adenomatous polyposis 1 [RCV003653369] Chr5:112707352..112707353 [GRCh38]
Chr5:112043050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-22T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002235901] Chr5:112707696 [GRCh38]
Chr5:112043393 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3484T>C (p.Tyr1162His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537269]|Hereditary cancer-predisposing syndrome [RCV002257983] Chr5:112839078 [GRCh38]
Chr5:112174775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7989C>G (p.Asp2663Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535915] Chr5:112843583 [GRCh38]
Chr5:112179280 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3958G>A (p.Val1320Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537279] Chr5:112839552 [GRCh38]
Chr5:112175249 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2600C>A (p.Thr867Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653349]|Hereditary cancer-predisposing syndrome [RCV002424853] Chr5:112838194 [GRCh38]
Chr5:112173891 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-8T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002235972] Chr5:112792438 [GRCh38]
Chr5:112128135 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.712C>T (p.Gln238Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537026]|Familial adenomatous polyposis 1 [RCV003535880]|Hereditary cancer-predisposing syndrome [RCV003307444] Chr5:112792512 [GRCh38]
Chr5:112128209 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.5(APC):c.-30585G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003768512] Chr5:112707359 [GRCh38]
Chr5:112043056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2552G>T (p.Ser851Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536034] Chr5:112838146 [GRCh38]
Chr5:112173843 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112780758T>C single nucleotide variant not provided [RCV000833671] Chr5:112116455 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7607C>T (p.Pro2536Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536035]|Hereditary cancer-predisposing syndrome [RCV002390656] Chr5:112843201 [GRCh38]
Chr5:112178898 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-1149T>G single nucleotide variant not provided [RCV000839019] Chr5:112779641 [GRCh38]
Chr5:112115338 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7489dup (p.Ser2497fs) duplication Familial adenomatous polyposis 1 [RCV002538038]|Familial adenomatous polyposis 1 [RCV003337340]|Hereditary cancer-predisposing syndrome [RCV001026486]|not provided [RCV003130060] Chr5:112843081..112843082 [GRCh38]
Chr5:112178778..112178779 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.5(APC):c.-30496A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002538145] Chr5:112707448 [GRCh38]
Chr5:112043145 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30532A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003536017] Chr5:112707412 [GRCh38]
Chr5:112043109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112707312)_(112844136_?)del deletion Familial adenomatous polyposis 1 [RCV000813324]|Familial adenomatous polyposis 1 [RCV001869256] Chr5:112707312..112844136 [GRCh38]
Chr5:112043009..112179833 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2336del (p.Asn778_Leu779insTer) deletion Familial adenomatous polyposis 1 [RCV002537375]|Familial adenomatous polyposis 1 [RCV003536012] Chr5:112837928 [GRCh38]
Chr5:112173625 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3421A>C (p.Thr1141Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653387] Chr5:112839015 [GRCh38]
Chr5:112174712 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6809C>A (p.Ser2270Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535928] Chr5:112842403 [GRCh38]
Chr5:112178100 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7379C>T (p.Ala2460Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535945]|Hereditary cancer-predisposing syndrome [RCV002381762] Chr5:112842973 [GRCh38]
Chr5:112178670 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1991C>G (p.Thr664Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537312]|Hereditary cancer-predisposing syndrome [RCV002422779] Chr5:112837585 [GRCh38]
Chr5:112173282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-105G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535969] Chr5:112707613 [GRCh38]
Chr5:112043310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-174C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003535970] Chr5:112707544 [GRCh38]
Chr5:112043241 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30608dup duplication Familial adenomatous polyposis 1 [RCV003535972] Chr5:112707335..112707336 [GRCh38]
Chr5:112043033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4397del (p.Gly1466fs) deletion Familial adenomatous polyposis 1 [RCV003336189] Chr5:112839990 [GRCh38]
Chr5:112175687 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112043009)_(112073585_?)dup duplication Familial adenomatous polyposis 1 [RCV000808623]|Familial adenomatous polyposis 1 [RCV001856253] Chr5:112707312..112737888 [GRCh38]
Chr5:112043009..112073585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.366del (p.Phe123fs) deletion Familial adenomatous polyposis 1 [RCV003536036] Chr5:112767332 [GRCh38]
Chr5:112103029 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7940T>G (p.Met2647Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536037]|Hereditary cancer-predisposing syndrome [RCV001026983] Chr5:112843534 [GRCh38]
Chr5:112179231 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.974dup (p.His325fs) duplication Familial adenomatous polyposis 1 [RCV003535860] Chr5:112819005..112819006 [GRCh38]
Chr5:112154702..112154703 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6862C>T (p.Gln2288Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535861] Chr5:112842456 [GRCh38]
Chr5:112178153 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5666A>G (p.Glu1889Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768513] Chr5:112841260 [GRCh38]
Chr5:112176957 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4141C>G (p.Pro1381Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534736] Chr5:112839735 [GRCh38]
Chr5:112175432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6056T>C (p.Val2019Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537285] Chr5:112841650 [GRCh38]
Chr5:112177347 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3211_3212del (p.Gln1071fs) deletion Familial adenomatous polyposis 1 [RCV003535876] Chr5:112838805..112838806 [GRCh38]
Chr5:112174502..112174503 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2522del (p.Ser840_Leu841insTer) deletion Familial adenomatous polyposis 1 [RCV003535877] Chr5:112838115 [GRCh38]
Chr5:112173812 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2233C>T (p.Pro745Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536038] Chr5:112837827 [GRCh38]
Chr5:112173524 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112828010C>A single nucleotide variant not provided [RCV000828119] Chr5:112163707 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4516del (p.Ser1505_Leu1506insTer) deletion Familial adenomatous polyposis 1 [RCV003537287] Chr5:112840109 [GRCh38]
Chr5:112175806 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5510G>C (p.Ser1837Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535908]|Hereditary cancer-predisposing syndrome [RCV001177513] Chr5:112841104 [GRCh38]
Chr5:112176801 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7197A>T (p.Lys2399Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537263] Chr5:112842791 [GRCh38]
Chr5:112178488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4747A>G (p.Met1583Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744657]|Hereditary cancer-predisposing syndrome [RCV002334472] Chr5:112840341 [GRCh38]
Chr5:112176038 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.443T>G (p.Leu148Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653397] Chr5:112775649 [GRCh38]
Chr5:112111346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30596A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744663] Chr5:112707348 [GRCh38]
Chr5:112043045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2710A>G (p.Arg904Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537265]|Hereditary cancer-predisposing syndrome [RCV001016376] Chr5:112838304 [GRCh38]
Chr5:112174001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1979del (p.Asn660fs) deletion Familial adenomatous polyposis 1 [RCV003336215]|Hereditary cancer-predisposing syndrome [RCV002415914] Chr5:112837572 [GRCh38]
Chr5:112173269 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7178G>T (p.Arg2393Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537266]|Hereditary cancer-predisposing syndrome [RCV002372306] Chr5:112842772 [GRCh38]
Chr5:112178469 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5545A>G (p.Ile1849Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535883]|Hereditary cancer-predisposing syndrome [RCV001024257] Chr5:112841139 [GRCh38]
Chr5:112176836 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.334C>A (p.Pro112Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536018]|Hereditary cancer-predisposing syndrome [RCV001805888] Chr5:112767302 [GRCh38]
Chr5:112102999 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6736G>T (p.Val2246Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535911]|Hereditary cancer-predisposing syndrome [RCV001025592] Chr5:112842330 [GRCh38]
Chr5:112178027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6091del (p.Ser2031fs) deletion Familial adenomatous polyposis 1 [RCV003537267] Chr5:112841685 [GRCh38]
Chr5:112177382 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6719C>T (p.Ser2240Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537268]|Hereditary cancer-predisposing syndrome [RCV003338820] Chr5:112842313 [GRCh38]
Chr5:112178010 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2507C>T (p.Ser836Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535914] Chr5:112838101 [GRCh38]
Chr5:112173798 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1968_1971del (p.Glu658fs) deletion Familial adenomatous polyposis 1 [RCV003535916] Chr5:112837562..112837565 [GRCh38]
Chr5:112173259..112173262 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1225C>A (p.Leu409Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537271]|Hereditary cancer-predisposing syndrome [RCV002363137] Chr5:112819257 [GRCh38]
Chr5:112154954 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7968T>A (p.Asp2656Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653392]|Hereditary cancer-predisposing syndrome [RCV001027009] Chr5:112843562 [GRCh38]
Chr5:112179259 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-201T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV000818007] Chr5:112707517 [GRCh38]
Chr5:112043214 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30481G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744666] Chr5:112707463 [GRCh38]
Chr5:112043160 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5777_5778del (p.Ile1926fs) deletion Familial adenomatous polyposis 1 [RCV003536020] Chr5:112841370..112841371 [GRCh38]
Chr5:112177067..112177068 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4766G>T (p.Arg1589Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653393]|Hereditary cancer-predisposing syndrome [RCV003279103]|not specified [RCV003320219] Chr5:112840360 [GRCh38]
Chr5:112176057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.365G>C (p.Gly122Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535944]|Hereditary cancer-predisposing syndrome [RCV001020823] Chr5:112767333 [GRCh38]
Chr5:112103030 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3353A>C (p.Asn1118Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535918] Chr5:112838947 [GRCh38]
Chr5:112174644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-744G>T single nucleotide variant not provided [RCV000839035] Chr5:112780046 [GRCh38]
Chr5:112115743 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.4966T>C (p.Ser1656Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653401]|Hereditary cancer-predisposing syndrome [RCV003279117] Chr5:112840560 [GRCh38]
Chr5:112176257 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7463T>G (p.Leu2488Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002538170]|Familial adenomatous polyposis 1 [RCV003536023]|Hereditary cancer-predisposing syndrome [RCV001026470] Chr5:112843057 [GRCh38]
Chr5:112178754 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.841A>C (p.Thr281Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535887]|Hereditary cancer-predisposing syndrome [RCV003166154]|not provided [RCV003141784] Chr5:112815501 [GRCh38]
Chr5:112151198 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5257G>A (p.Ala1753Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653402]|Hereditary cancer-predisposing syndrome [RCV002336723] Chr5:112840851 [GRCh38]
Chr5:112176548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1427C>T (p.Ala476Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536025] Chr5:112827126 [GRCh38]
Chr5:112162823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7853A>G (p.Asn2618Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535979]|not specified [RCV002465785] Chr5:112843447 [GRCh38]
Chr5:112179144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+53T>C single nucleotide variant not provided [RCV000836267] Chr5:112737978 [GRCh38]
Chr5:112073675 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5126C>T (p.Thr1709Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535948]|Hereditary cancer-predisposing syndrome [RCV001023583] Chr5:112840720 [GRCh38]
Chr5:112176417 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6008A>C (p.Gln2003Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535950]|Hereditary cancer-predisposing syndrome [RCV002352376] Chr5:112841602 [GRCh38]
Chr5:112177299 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.830G>C (p.Gly277Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768493]|Hereditary cancer-predisposing syndrome [RCV002255524]|not provided [RCV001284724] Chr5:112801379 [GRCh38]
Chr5:112137076 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5896A>G (p.Asn1966Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535987] Chr5:112841490 [GRCh38]
Chr5:112177187 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5936A>G (p.Asn1979Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537277] Chr5:112841530 [GRCh38]
Chr5:112177227 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.989T>C (p.Met330Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535953]|Hereditary cancer-predisposing syndrome [RCV001019870]|not specified [RCV002298779] Chr5:112819021 [GRCh38]
Chr5:112154718 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5893C>T (p.His1965Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235462]|Hereditary cancer-predisposing syndrome [RCV001024648]|not provided [RCV002478932] Chr5:112841487 [GRCh38]
Chr5:112177184 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4814T>C (p.Val1605Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535892] Chr5:112840408 [GRCh38]
Chr5:112176105 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3263A>C (p.Lys1088Thr) single nucleotide variant Desmoid disease, hereditary [RCV002487784]|Familial adenomatous polyposis 1 [RCV003768521]|Hereditary cancer-predisposing syndrome [RCV001188545]|not provided [RCV001593008] Chr5:112838857 [GRCh38]
Chr5:112174554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2519G>C (p.Ser840Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535925]|Hereditary cancer-predisposing syndrome [RCV002458471] Chr5:112838113 [GRCh38]
Chr5:112173810 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7307T>G (p.Val2436Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535926]|Hereditary cancer-predisposing syndrome [RCV001026249] Chr5:112842901 [GRCh38]
Chr5:112178598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-68G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002535906]|not specified [RCV003493735] Chr5:112707650 [GRCh38]
Chr5:112043347 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134_-133insGGG insertion Familial adenomatous polyposis 1 [RCV002234238] Chr5:112707584..112707585 [GRCh38]
Chr5:112043281..112043282 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.5(APC):c.-30587T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653334] Chr5:112707357 [GRCh38]
Chr5:112043054 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535999] Chr5:112828854 [GRCh38]
Chr5:112164551 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.10:g.(?_112775619)_(112801393_?)del deletion Familial adenomatous polyposis 1 [RCV000796140] Chr5:112775619..112801393 [GRCh38]
Chr5:112111316..112137090 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.156del (p.Gly53fs) deletion Familial adenomatous polyposis 1 [RCV003536003]|Hereditary cancer-predisposing syndrome [RCV003307504]|not provided [RCV001356443] Chr5:112766345 [GRCh38]
Chr5:112102042 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.824G>A (p.Gly275Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653398] Chr5:112801373 [GRCh38]
Chr5:112137070 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2719G>C (p.Gly907Arg) single nucleotide variant Desmoid disease, hereditary [RCV003141857]|Familial adenomatous polyposis 1 [RCV003537293]|Hereditary cancer-predisposing syndrome [RCV001016394] Chr5:112838313 [GRCh38]
Chr5:112174010 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.5(APC):c.-30527G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535897] Chr5:112707417 [GRCh38]
Chr5:112043114 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5191G>A (p.Ala1731Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535869] Chr5:112840785 [GRCh38]
Chr5:112176482 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.39G>T (p.Leu13Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535906] Chr5:112707756 [GRCh38]
Chr5:112043453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8015G>T (p.Gly2672Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002538086]|Hereditary cancer-predisposing syndrome [RCV002422786] Chr5:112843609 [GRCh38]
Chr5:112179306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1420G>T (p.Ala474Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653338] Chr5:112827119 [GRCh38]
Chr5:112162816 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5594_5617dup (p.Val1872_Asp1873insValAspPheAspAspAspAspVal) duplication Familial adenomatous polyposis 1 [RCV002537996] Chr5:112841187..112841188 [GRCh38]
Chr5:112176884..112176885 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7069A>T (p.Lys2357Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV000792397] Chr5:112842663 [GRCh38]
Chr5:112178360 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5003A>G (p.Glu1668Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537302] Chr5:112840597 [GRCh38]
Chr5:112176294 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112766316)_(112844136_?)del deletion Familial adenomatous polyposis 1 [RCV003153841] Chr5:112766316..112844136 [GRCh38]
Chr5:112102013..112179833 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8108A>T (p.Lys2703Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002538096]|Familial adenomatous polyposis 1 [RCV003536006]|Hereditary cancer-predisposing syndrome [RCV002422790] Chr5:112843702 [GRCh38]
Chr5:112179399 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30541G>A single nucleotide variant APC-related condition [RCV003938168]|Familial adenomatous polyposis 1 [RCV003768503] Chr5:112707403 [GRCh38]
Chr5:112043100 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2985C>T (p.Cys995=) single nucleotide variant APC-related condition [RCV003892762]|Familial adenomatous polyposis 1 [RCV003653407]|Hereditary cancer-predisposing syndrome [RCV001017791]|not provided [RCV000833208] Chr5:112838579 [GRCh38]
Chr5:112174276 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6883T>G (p.Ser2295Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535900]|Hereditary cancer-predisposing syndrome [RCV001025757]|not provided [RCV003318638] Chr5:112842477 [GRCh38]
Chr5:112178174 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5339C>T (p.Pro1780Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535901] Chr5:112840933 [GRCh38]
Chr5:112176630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.121G>T (p.Ala41Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535992] Chr5:112755011 [GRCh38]
Chr5:112090708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2970T>G (p.Asp990Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535959]|not specified [RCV003320755] Chr5:112838564 [GRCh38]
Chr5:112174261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.113C>T (p.Thr38Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653352] Chr5:112707830 [GRCh38]
Chr5:112043527 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-109C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653355] Chr5:112707609 [GRCh38]
Chr5:112043306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-83del deletion Familial adenomatous polyposis 1 [RCV003535951] Chr5:112707635 [GRCh38]
Chr5:112043332 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.5(APC):c.-30513T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653359] Chr5:112707431 [GRCh38]
Chr5:112043128 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6201del (p.Asn2067fs) deletion Familial adenomatous polyposis 1 [RCV003536032] Chr5:112841795 [GRCh38]
Chr5:112177492 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.998C>A (p.Thr333Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535903] Chr5:112819030 [GRCh38]
Chr5:112154727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5208A>G (p.Lys1736=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768575]|not provided [RCV000827461] Chr5:112840802 [GRCh38]
Chr5:112176499 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.(?_112707312)_(112780913_?)del deletion Familial adenomatous polyposis 1 [RCV000802583]|Familial adenomatous polyposis 1 [RCV001856249] Chr5:112707312..112780913 [GRCh38]
Chr5:112043009..112116610 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3780G>T (p.Gln1260His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536008] Chr5:112839374 [GRCh38]
Chr5:112175071 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1841C>G (p.Ala614Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002535880]|Hereditary cancer-predisposing syndrome [RCV001524350] Chr5:112835048 [GRCh38]
Chr5:112170745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1697T>C (p.Val566Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535857]|Hereditary cancer-predisposing syndrome [RCV001184157] Chr5:112828926 [GRCh38]
Chr5:112164623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5946A>C (p.Lys1982Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535859] Chr5:112841540 [GRCh38]
Chr5:112177237 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3240G>A (p.Glu1080=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769512]|Hereditary cancer-predisposing syndrome [RCV001019389] Chr5:112838834 [GRCh38]
Chr5:112174531 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4260del (p.Ser1421fs) deletion Familial adenomatous polyposis 1 [RCV002536956]|Familial adenomatous polyposis 1 [RCV003535862]|Hereditary cancer-predisposing syndrome [RCV002332589] Chr5:112839851 [GRCh38]
Chr5:112175548 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5485A>G (p.Asn1829Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002555867]|Familial adenomatous polyposis 1 [RCV003537462]|not provided [RCV001593247] Chr5:112841079 [GRCh38]
Chr5:112176776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-220G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653357] Chr5:112707498 [GRCh38]
Chr5:112043195 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30489A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535962] Chr5:112707455 [GRCh38]
Chr5:112043152 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2777C>G (p.Ser926Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649379] Chr5:112838371 [GRCh38]
Chr5:112174068 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2639T>C (p.Ile880Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649380]|not provided [RCV002275266] Chr5:112838233 [GRCh38]
Chr5:112173930 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7996A>G (p.Ile2666Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653330]|Hereditary cancer-predisposing syndrome [RCV001524351] Chr5:112843590 [GRCh38]
Chr5:112179287 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5344A>C (p.Asn1782His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552378]|Hereditary cancer-predisposing syndrome [RCV001023954] Chr5:112840938 [GRCh38]
Chr5:112176635 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5379A>G (p.Ala1793=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023999] Chr5:112840973 [GRCh38]
Chr5:112176670 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6925C>G (p.Pro2309Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653378] Chr5:112842519 [GRCh38]
Chr5:112178216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-153C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653363] Chr5:112707565 [GRCh38]
Chr5:112043262 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3035A>G (p.Asn1012Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653336]|Hereditary cancer-predisposing syndrome [RCV002440638]|not provided [RCV001585714] Chr5:112838629 [GRCh38]
Chr5:112174326 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5615_5617del (p.Val1872del) deletion Familial adenomatous polyposis 1 [RCV003653379] Chr5:112841207..112841209 [GRCh38]
Chr5:112176904..112176906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-126del deletion Familial adenomatous polyposis 1 [RCV002537270] Chr5:112707586 [GRCh38]
Chr5:112043289 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4339del (p.Gln1447fs) deletion Familial adenomatous polyposis 1 [RCV003535873] Chr5:112839933 [GRCh38]
Chr5:112175630 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-147G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653328] Chr5:112707571 [GRCh38]
Chr5:112043268 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1292T>G (p.Met431Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653374] Chr5:112819324 [GRCh38]
Chr5:112155021 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-213A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003535872] Chr5:112707505 [GRCh38]
Chr5:112043202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-165G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653371] Chr5:112707553 [GRCh38]
Chr5:112043250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1323del (p.Val442fs) deletion Familial adenomatous polyposis 1 [RCV003535874] Chr5:112821906 [GRCh38]
Chr5:112157603 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-117_-97del deletion Familial adenomatous polyposis 1 [RCV003653373] Chr5:112707595..112707615 [GRCh38]
Chr5:112043298..112043318 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-91G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002235108] Chr5:112707627 [GRCh38]
Chr5:112043324 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-127G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537278] Chr5:112707591 [GRCh38]
Chr5:112043288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30566G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003768519] Chr5:112707378 [GRCh38]
Chr5:112043075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30601G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537295] Chr5:112707343 [GRCh38]
Chr5:112043040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-133_-132delinsGC indel Familial adenomatous polyposis 1 [RCV002536026] Chr5:112707585..112707586 [GRCh38]
Chr5:112043282..112043283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5909G>T (p.Ser1970Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554544]|Hereditary cancer-predisposing syndrome [RCV002355094] Chr5:112841503 [GRCh38]
Chr5:112177200 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112766316)_(112844136_?)dup duplication Familial adenomatous polyposis 1 [RCV001032267] Chr5:112102013..112179833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30524C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002535866] Chr5:112707420 [GRCh38]
Chr5:112043117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1418A>G (p.Gln473Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535875]|Hereditary cancer-predisposing syndrome [RCV002388439] Chr5:112827117 [GRCh38]
Chr5:112162814 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.239G>A (p.Ser80Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653365] Chr5:112767207 [GRCh38]
Chr5:112102904 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112834941)_(112835175_?)del deletion Familial adenomatous polyposis 1 [RCV001031670]|Familial adenomatous polyposis 1 [RCV001862447] Chr5:112170638..112170872 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3043G>C (p.Asp1015His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240544] Chr5:112838637 [GRCh38]
Chr5:112174334 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7487A>G (p.His2496Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535973]|Hereditary cancer-predisposing syndrome [RCV001026485] Chr5:112843081 [GRCh38]
Chr5:112178778 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1059dup (p.Pro354fs) duplication Familial adenomatous polyposis 1 [RCV003535980] Chr5:112819089..112819090 [GRCh38]
Chr5:112154786..112154787 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2437A>C (p.Asn813His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002535859]|Hereditary cancer-predisposing syndrome [RCV001183652]|not specified [RCV002249501] Chr5:112838031 [GRCh38]
Chr5:112173728 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.812T>A (p.Met271Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536001] Chr5:112801361 [GRCh38]
Chr5:112137058 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001354897.2(APC):c.-269G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002534606]|not specified [RCV003320747] Chr5:112707449 [GRCh38]
Chr5:112043146 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4524T>C (p.Ala1508=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537312]|Hereditary cancer-predisposing syndrome [RCV001022638]|not provided [RCV000829115] Chr5:112840118 [GRCh38]
Chr5:112175815 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4583_4587del (p.Val1528fs) deletion Familial adenomatous polyposis 1 [RCV002537349]|Familial adenomatous polyposis 1 [RCV003536004] Chr5:112840174..112840178 [GRCh38]
Chr5:112175871..112175875 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6953G>A (p.Ser2318Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552526]|Hereditary cancer-predisposing syndrome [RCV002363587] Chr5:112842547 [GRCh38]
Chr5:112178244 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2617dup (p.Ser873fs) duplication Familial adenomatous polyposis 1 [RCV003649294] Chr5:112838209..112838210 [GRCh38]
Chr5:112173906..112173907 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5443A>G (p.Asn1815Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649295] Chr5:112841037 [GRCh38]
Chr5:112176734 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.656_659del (p.Ala219fs) deletion Familial adenomatous polyposis 1 [RCV003535853] Chr5:112792454..112792457 [GRCh38]
Chr5:112128151..112128154 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4522G>T (p.Ala1508Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535989]|Hereditary cancer-predisposing syndrome [RCV002332658]|not provided [RCV001558431] Chr5:112840116 [GRCh38]
Chr5:112175813 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4114C>A (p.Pro1372Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536005] Chr5:112839708 [GRCh38]
Chr5:112175405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.997A>C (p.Thr333Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535868] Chr5:112819029 [GRCh38]
Chr5:112154726 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.913A>G (p.Thr305Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535870] Chr5:112815573 [GRCh38]
Chr5:112151270 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6050C>T (p.Thr2017Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239355] Chr5:112841644 [GRCh38]
Chr5:112177341 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4732T>C (p.Cys1578Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653326]|Hereditary cancer-predisposing syndrome [RCV002334470] Chr5:112840326 [GRCh38]
Chr5:112176023 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.509_516del (p.Asp170fs) deletion Hereditary cancer-predisposing syndrome [RCV001023522] Chr5:112775715..112775722 [GRCh38]
Chr5:112111412..112111419 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1169T>C (p.Ile390Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010097] Chr5:112819201 [GRCh38]
Chr5:112154898 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1588G>T (p.Val530Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653377] Chr5:112827968 [GRCh38]
Chr5:112163665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1177dup (p.Ser393fs) duplication Familial adenomatous polyposis 1 [RCV003535991] Chr5:112819208..112819209 [GRCh38]
Chr5:112154905..112154906 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6616A>G (p.Asn2206Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535856] Chr5:112842210 [GRCh38]
Chr5:112177907 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5120C>T (p.Ser1707Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537414]|Hereditary cancer-predisposing syndrome [RCV001023577] Chr5:112840714 [GRCh38]
Chr5:112176411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30606dup duplication Familial adenomatous polyposis 1 [RCV002534650] Chr5:112707337..112707338 [GRCh38]
Chr5:112043035 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1415T>C (p.Leu472Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649300]|Hereditary cancer-predisposing syndrome [RCV002393218] Chr5:112827114 [GRCh38]
Chr5:112162811 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7741A>G (p.Ser2581Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653346] Chr5:112843335 [GRCh38]
Chr5:112179032 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3440A>C (p.Tyr1147Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535921]|Hereditary cancer-predisposing syndrome [RCV002458467] Chr5:112839034 [GRCh38]
Chr5:112174731 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+249C>T single nucleotide variant not provided [RCV000836369] Chr5:112766659 [GRCh38]
Chr5:112102356 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5729C>T (p.Thr1910Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537307] Chr5:112841323 [GRCh38]
Chr5:112177020 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.27G>C (p.Pro9=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537289] Chr5:112707744 [GRCh38]
Chr5:112043441 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-214T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537290] Chr5:112707504 [GRCh38]
Chr5:112043201 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2925A>T (p.Lys975Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535967] Chr5:112838519 [GRCh38]
Chr5:112174216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30531A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003768544] Chr5:112707413 [GRCh38]
Chr5:112043110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5591C>T (p.Ser1864Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653380] Chr5:112841185 [GRCh38]
Chr5:112176882 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-119G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003536019] Chr5:112707599 [GRCh38]
Chr5:112043296 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1967_1974del (p.Leu656fs) deletion Familial adenomatous polyposis 1 [RCV003536030] Chr5:112837561..112837568 [GRCh38]
Chr5:112173258..112173265 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1837C>T (p.Leu613Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653348]|Hereditary cancer-predisposing syndrome [RCV001013307] Chr5:112835044 [GRCh38]
Chr5:112170741 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7432del (p.Gln2478fs) deletion Familial adenomatous polyposis 1 [RCV003337341]|Hereditary cancer-predisposing syndrome [RCV001026431] Chr5:112843024 [GRCh38]
Chr5:112178721 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7058C>T (p.Thr2353Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653356] Chr5:112842652 [GRCh38]
Chr5:112178349 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-2A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537308] Chr5:112780788 [GRCh38]
Chr5:112116485 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3821G>A (p.Cys1274Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537309]|Hereditary cancer-predisposing syndrome [RCV001021229]|not provided [RCV001776043] Chr5:112839415 [GRCh38]
Chr5:112175112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1020C>T (p.Ser340=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544933] Chr5:112819052 [GRCh38]
Chr5:112154749 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30507_-30493del deletion Familial adenomatous polyposis 1 [RCV003768483] Chr5:112707435..112707449 [GRCh38]
Chr5:112043134..112043148 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30598G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003535852] Chr5:112707346 [GRCh38]
Chr5:112043043 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-172A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653325] Chr5:112707546 [GRCh38]
Chr5:112043243 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8097T>G (p.Asp2699Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536011]|Hereditary cancer-predisposing syndrome [RCV002422796] Chr5:112843691 [GRCh38]
Chr5:112179388 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.756C>G (p.Thr252=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235735]|Hereditary cancer-predisposing syndrome [RCV001026576] Chr5:112801305 [GRCh38]
Chr5:112137002 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4367A>C (p.Lys1456Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537335]|Hereditary cancer-predisposing syndrome [RCV002332664] Chr5:112839961 [GRCh38]
Chr5:112175658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1026C>A (p.Asp342Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535865] Chr5:112819058 [GRCh38]
Chr5:112154755 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-145C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653327] Chr5:112707573 [GRCh38]
Chr5:112043270 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1560del (p.Ser521fs) deletion Familial adenomatous polyposis 1 [RCV003535866] Chr5:112827940 [GRCh38]
Chr5:112163637 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.314G>A (p.Ser105Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536033]|not provided [RCV001796248] Chr5:112767282 [GRCh38]
Chr5:112102979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5791T>A (p.Ser1931Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537280] Chr5:112841385 [GRCh38]
Chr5:112177082 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5942A>G (p.Asn1981Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV000802223]|Familial adenomatous polyposis 1 [RCV002234743]|Hereditary cancer-predisposing syndrome [RCV001181935] Chr5:112841536 [GRCh38]
Chr5:112177233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5919T>G (p.Ser1973Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653358] Chr5:112841513 [GRCh38]
Chr5:112177210 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5718A>C (p.Ser1906=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235922]|Hereditary cancer-predisposing syndrome [RCV001024444] Chr5:112841312 [GRCh38]
Chr5:112177009 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.878del (p.Ser293fs) deletion Familial adenomatous polyposis 1 [RCV002535903]|Familial adenomatous polyposis 1 [RCV003535867] Chr5:112815538 [GRCh38]
Chr5:112151235 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6478A>G (p.Thr2160Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653333] Chr5:112842072 [GRCh38]
Chr5:112177769 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1306A>T (p.Asn436Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535998]|Hereditary cancer-predisposing syndrome [RCV002381800] Chr5:112819338 [GRCh38]
Chr5:112155035 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5478G>T (p.Lys1826Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535878] Chr5:112841072 [GRCh38]
Chr5:112176769 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8507G>A (p.Gly2836Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536014]|Hereditary cancer-predisposing syndrome [RCV003584762] Chr5:112844101 [GRCh38]
Chr5:112179798 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7540A>T (p.Thr2514Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535879]|Hereditary cancer-predisposing syndrome [RCV001026543]|not specified [RCV002268286] Chr5:112843134 [GRCh38]
Chr5:112178831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4326del (p.Pro1443fs) deletion Familial adenomatous polyposis 1 [RCV003336193] Chr5:112839920 [GRCh38]
Chr5:112175617 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8098A>G (p.Asn2700Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537281] Chr5:112843692 [GRCh38]
Chr5:112179389 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-10T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653360] Chr5:112828846 [GRCh38]
Chr5:112164543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1485T>C (p.Ile495=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235925] Chr5:112827184 [GRCh38]
Chr5:112162881 [GRCh37]
Chr5:5q22.2		 likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_000038.6(APC):c.1642T>A (p.Leu548Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653381] Chr5:112828871 [GRCh38]
Chr5:112164568 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.973C>A (p.His325Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536015] Chr5:112819005 [GRCh38]
Chr5:112154702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5390A>G (p.Asn1797Ser) single nucleotide variant APC-related condition [RCV003396385]|Familial adenomatous polyposis 1 [RCV003535882]|Hereditary cancer-predisposing syndrome [RCV002345758] Chr5:112840984 [GRCh38]
Chr5:112176681 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2220C>T (p.Ala740=) single nucleotide variant not provided [RCV000831340] Chr5:112837814 [GRCh38]
Chr5:112173511 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.531+221A>G single nucleotide variant not provided [RCV000837383] Chr5:112775958 [GRCh38]
Chr5:112111655 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112792712C>T single nucleotide variant not provided [RCV000837384] Chr5:112128409 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6265G>A (p.Glu2089Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653366] Chr5:112841859 [GRCh38]
Chr5:112177556 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2532_2533del (p.Arg845fs) microsatellite Familial adenomatous polyposis 1 [RCV003536000] Chr5:112838124..112838125 [GRCh38]
Chr5:112173821..112173822 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2001A>G (p.Gln667=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536002] Chr5:112837595 [GRCh38]
Chr5:112173292 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5690A>G (p.His1897Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535936]|Hereditary cancer-predisposing syndrome [RCV002257966] Chr5:112841284 [GRCh38]
Chr5:112176981 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4162A>T (p.Thr1388Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537297]|Hereditary cancer-predisposing syndrome [RCV001021977] Chr5:112839756 [GRCh38]
Chr5:112175453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+7A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002235877] Chr5:112801390 [GRCh38]
Chr5:112137087 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2172A>T (p.Ala724=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550553]|Hereditary cancer-predisposing syndrome [RCV002427428] Chr5:112837766 [GRCh38]
Chr5:112173463 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.664C>T (p.Gln222Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535849] Chr5:112792464 [GRCh38]
Chr5:112128161 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5554A>C (p.Thr1852Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535982] Chr5:112841148 [GRCh38]
Chr5:112176845 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2501C>T (p.Ser834Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535984]|Hereditary cancer-predisposing syndrome [RCV002453819] Chr5:112838095 [GRCh38]
Chr5:112173792 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5086A>G (p.Ser1696Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653322] Chr5:112840680 [GRCh38]
Chr5:112176377 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3926A>C (p.Glu1309Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535985]|Hereditary cancer-predisposing syndrome [RCV001180270] Chr5:112839520 [GRCh38]
Chr5:112175217 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6331A>G (p.Ile2111Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536039]|Hereditary cancer-predisposing syndrome [RCV001180712] Chr5:112841925 [GRCh38]
Chr5:112177622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7171A>T (p.Ile2391Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653341] Chr5:112842765 [GRCh38]
Chr5:112178462 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4025T>G (p.Leu1342Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535910] Chr5:112839619 [GRCh38]
Chr5:112175316 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3935del (p.Gly1312fs) deletion Familial adenomatous polyposis 1 [RCV002535507]|Familial adenomatous polyposis 1 [RCV003537284] Chr5:112839528 [GRCh38]
Chr5:112175225 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.933+5C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537298]|Hereditary cancer-predisposing syndrome [RCV001019182] Chr5:112815598 [GRCh38]
Chr5:112151295 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2169T>C (p.Ala723=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544584]|Hereditary cancer-predisposing syndrome [RCV002427357] Chr5:112837763 [GRCh38]
Chr5:112173460 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7339G>T (p.Ala2447Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535850]|Hereditary cancer-predisposing syndrome [RCV001026286] Chr5:112842933 [GRCh38]
Chr5:112178630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-171G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653339] Chr5:112707547 [GRCh38]
Chr5:112043244 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8420C>G (p.Thr2807Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535871] Chr5:112844014 [GRCh38]
Chr5:112179711 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30504C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003535904] Chr5:112707440 [GRCh38]
Chr5:112043137 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30612G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003535907] Chr5:112707332 [GRCh38]
Chr5:112043029 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.216T>C (p.Leu72=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653413]|Hereditary cancer-predisposing syndrome [RCV001014635] Chr5:112766406 [GRCh38]
Chr5:112102103 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2508A>C (p.Ser836=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537380] Chr5:112838102 [GRCh38]
Chr5:112173799 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1118C>T (p.Ser373Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535988]|Hereditary cancer-predisposing syndrome [RCV001178924] Chr5:112819150 [GRCh38]
Chr5:112154847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-114C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535913] Chr5:112707604 [GRCh38]
Chr5:112043301 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+45G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV000987547]|not provided [RCV000829439] Chr5:112737970 [GRCh38]
Chr5:112073667 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-65_-64del deletion Familial adenomatous polyposis 1 [RCV003535919] Chr5:112707653..112707654 [GRCh38]
Chr5:112043350..112043351 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2453A>G (p.Asn818Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537031]|Familial adenomatous polyposis 1 [RCV003535884]|Hereditary cancer-predisposing syndrome [RCV002442638] Chr5:112838047 [GRCh38]
Chr5:112173744 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1892T>C (p.Ile631Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534611] Chr5:112835099 [GRCh38]
Chr5:112170796 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5018A>G (p.Glu1673Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536007]|Hereditary cancer-predisposing syndrome [RCV001805886] Chr5:112840612 [GRCh38]
Chr5:112176309 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.71C>G (p.Ser24Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002534701] Chr5:112707788 [GRCh38]
Chr5:112043485 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2999A>G (p.Tyr1000Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536021]|Hereditary cancer-predisposing syndrome [RCV002440771] Chr5:112838593 [GRCh38]
Chr5:112174290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112834948T>C single nucleotide variant not provided [RCV000826981] Chr5:112170645 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5(APC):c.-30513T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535930] Chr5:112707431 [GRCh38]
Chr5:112043128 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.-30529C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003535937] Chr5:112707415 [GRCh38]
Chr5:112043112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4181A>G (p.Asp1394Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744660]|Hereditary cancer-predisposing syndrome [RCV001176145]|not provided [RCV001585743] Chr5:112839775 [GRCh38]
Chr5:112175472 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3163A>G (p.Ile1055Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653390]|Hereditary cancer-predisposing syndrome [RCV001018888]|not specified [RCV001816899] Chr5:112838757 [GRCh38]
Chr5:112174454 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6766C>G (p.Pro2256Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768505]|Hereditary cancer-predisposing syndrome [RCV002360963] Chr5:112842360 [GRCh38]
Chr5:112178057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+5A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535855]|Hereditary cancer-predisposing syndrome [RCV001013840] Chr5:112835170 [GRCh38]
Chr5:112170867 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.5(APC):c.-30612G>C single nucleotide variant APC-related condition [RCV003947995]|Familial adenomatous polyposis 1 [RCV003768507] Chr5:112707332 [GRCh38]
Chr5:112043029 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1396A>T (p.Met466Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002536998] Chr5:112821979 [GRCh38]
Chr5:112157676 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3750A>T (p.Lys1250Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002539939]|Familial adenomatous polyposis 1 [RCV003536024]|Hereditary cancer-predisposing syndrome [RCV002345855] Chr5:112839344 [GRCh38]
Chr5:112175041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5675C>A (p.Ala1892Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003388598]|Familial adenomatous polyposis 1 [RCV003653343]|Hereditary cancer-predisposing syndrome [RCV001805868] Chr5:112841269 [GRCh38]
Chr5:112176966 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8285T>C (p.Phe2762Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537270]|Hereditary cancer-predisposing syndrome [RCV002427023] Chr5:112843879 [GRCh38]
Chr5:112179576 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.787G>A (p.Gly263Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537272] Chr5:112801336 [GRCh38]
Chr5:112137033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1019C>A (p.Ser340Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535917] Chr5:112819051 [GRCh38]
Chr5:112154748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7311A>C (p.Leu2437Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653354]|Hereditary cancer-predisposing syndrome [RCV001026261] Chr5:112842905 [GRCh38]
Chr5:112178602 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4819A>G (p.Arg1607Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653399]|Hereditary cancer-predisposing syndrome [RCV002332720] Chr5:112840413 [GRCh38]
Chr5:112176110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-183G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003768509] Chr5:112707535 [GRCh38]
Chr5:112043232 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.857A>G (p.His286Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653335] Chr5:112815517 [GRCh38]
Chr5:112151214 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG indel Familial adenomatous polyposis 1 [RCV000808449]|Hereditary cancer-predisposing syndrome [RCV002406810] Chr5:112707526..112707527 [GRCh38]
Chr5:112043223..112043224 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3811T>C (p.Phe1271Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536029] Chr5:112839405 [GRCh38]
Chr5:112175102 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4076A>G (p.Lys1359Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653384] Chr5:112839670 [GRCh38]
Chr5:112175367 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626G>C (p.Gln542His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537180]|Familial adenomatous polyposis 1 [RCV003535947] Chr5:112828006 [GRCh38]
Chr5:112163703 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.1600A>T (p.Lys534Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337342]|not provided [RCV001796258] Chr5:112827980 [GRCh38]
Chr5:112163677 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.637C>A (p.Arg213=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537364] Chr5:112780895 [GRCh38]
Chr5:112116592 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112162795)_(112179833_?)dup duplication Familial adenomatous polyposis 1 [RCV000808643] Chr5:112827098..112844136 [GRCh38]
Chr5:112162795..112179833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4989A>T (p.Glu1663Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536010] Chr5:112840583 [GRCh38]
Chr5:112176280 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.223C>G (p.Leu75Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535893]|Hereditary cancer-predisposing syndrome [RCV002424833] Chr5:112767191 [GRCh38]
Chr5:112102888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+148T>C single nucleotide variant not provided [RCV000835972] Chr5:112767538 [GRCh38]
Chr5:112103235 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7445C>T (p.Pro2482Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653345] Chr5:112843039 [GRCh38]
Chr5:112178736 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.386A>G (p.Glu129Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002535457]|Familial adenomatous polyposis 1 [RCV003744665]|Hereditary cancer-predisposing syndrome [RCV001191301] Chr5:112767354 [GRCh38]
Chr5:112103051 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2428A>G (p.Arg810Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537291] Chr5:112838022 [GRCh38]
Chr5:112173719 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-1064T>G single nucleotide variant not provided [RCV000839606] Chr5:112779726 [GRCh38]
Chr5:112115423 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7404A>T (p.Ser2468=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235805] Chr5:112842998 [GRCh38]
Chr5:112178695 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4508del (p.Ser1503fs) deletion Familial multiple polyposis syndrome [RCV001260339]|Hereditary cancer-predisposing syndrome [RCV001022604] Chr5:112840102 [GRCh38]
Chr5:112175799 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4594G>T (p.Asp1532Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022754] Chr5:112840188 [GRCh38]
Chr5:112175885 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4349G>C (p.Arg1450Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769988]|Hereditary cancer-predisposing syndrome [RCV001181507] Chr5:112839943 [GRCh38]
Chr5:112175640 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.462A>C (p.Glu154Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744705]|Hereditary cancer-predisposing syndrome [RCV001022805] Chr5:112775668 [GRCh38]
Chr5:112111365 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4710T>C (p.Asp1570=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769568]|Hereditary cancer-predisposing syndrome [RCV001022939] Chr5:112840304 [GRCh38]
Chr5:112176001 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1837C>G (p.Leu613Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649381] Chr5:112835044 [GRCh38]
Chr5:112170741 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6262T>C (p.Ser2088Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552591] Chr5:112841856 [GRCh38]
Chr5:112177553 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3895G>C (p.Ala1299Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649304] Chr5:112839489 [GRCh38]
Chr5:112175186 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6713A>G (p.Asn2238Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649305]|Hereditary cancer-predisposing syndrome [RCV001805993] Chr5:112842307 [GRCh38]
Chr5:112178004 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5320T>C (p.Ser1774Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552596] Chr5:112840914 [GRCh38]
Chr5:112176611 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q22.2-22.3(chr5:112115007-113452981)x3 copy number gain not provided [RCV001005717] Chr5:112115007..113452981 [GRCh37]
Chr5:5q22.2-22.3		 uncertain significance
NC_000005.10:g.(?_112707312)_(112779851_?)dup duplication Familial adenomatous polyposis 1 [RCV001032224]|Familial adenomatous polyposis 1 [RCV001862449] Chr5:112043009..112115548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4963_4977del (p.Thr1655_Asp1659del) deletion Hereditary cancer-predisposing syndrome [RCV001181410] Chr5:112840556..112840570 [GRCh38]
Chr5:112176253..112176267 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3941G>A (p.Arg1314Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769543]|Hereditary cancer-predisposing syndrome [RCV001021481] Chr5:112839535 [GRCh38]
Chr5:112175232 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5491G>C (p.Glu1831Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553978] Chr5:112841085 [GRCh38]
Chr5:112176782 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.559del (p.Arg187fs) deletion Familial adenomatous polyposis 1 [RCV002240629] Chr5:112780816 [GRCh38]
Chr5:112116513 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.572_573dup (p.Glu192fs) microsatellite Familial adenomatous polyposis 1 [RCV002552549] Chr5:112780827..112780828 [GRCh38]
Chr5:112116524..112116525 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4289C>T (p.Thr1430Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769556]|Hereditary cancer-predisposing syndrome [RCV001022218] Chr5:112839883 [GRCh38]
Chr5:112175580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4370C>T (p.Ala1457Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769559]|Hereditary cancer-predisposing syndrome [RCV001022377] Chr5:112839964 [GRCh38]
Chr5:112175661 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.445G>A (p.Asp149Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236237]|Hereditary cancer-predisposing syndrome [RCV001022514] Chr5:112775651 [GRCh38]
Chr5:112111348 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3902C>T (p.Thr1301Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649214]|Hereditary cancer-predisposing syndrome [RCV001021402] Chr5:112839496 [GRCh38]
Chr5:112175193 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4792G>A (p.Ala1598Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551868]|Hereditary cancer-predisposing syndrome [RCV001023054] Chr5:112840386 [GRCh38]
Chr5:112176083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4816G>T (p.Ala1606Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649218]|Hereditary cancer-predisposing syndrome [RCV001023104] Chr5:112840410 [GRCh38]
Chr5:112176107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3058G>A (p.Glu1020Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649386] Chr5:112838652 [GRCh38]
Chr5:112174349 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-11A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003148912]|Familial adenomatous polyposis 1 [RCV003336257]|Hereditary cancer-predisposing syndrome [RCV001022097] Chr5:112775618 [GRCh38]
Chr5:112111315 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.7058C>G (p.Thr2353Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744686]|Hereditary cancer-predisposing syndrome [RCV001025977]|not provided [RCV000998416] Chr5:112842652 [GRCh38]
Chr5:112178349 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3336_3340del (p.Asn1113fs) deletion Familial adenomatous polyposis 1 [RCV003230619]|Familial adenomatous polyposis 1 [RCV003336253]|Hereditary cancer-predisposing syndrome [RCV001020021] Chr5:112838929..112838933 [GRCh38]
Chr5:112174626..112174630 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1775T>C (p.Leu592Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537457] Chr5:112834982 [GRCh38]
Chr5:112170679 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6259G>T (p.Asp2087Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768951]|Hereditary cancer-predisposing syndrome [RCV002259069]|not provided [RCV001759747] Chr5:112841853 [GRCh38]
Chr5:112177550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3609A>G (p.Gly1203=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020712] Chr5:112839203 [GRCh38]
Chr5:112174900 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5153_5155del (p.Ala1718del) deletion Hereditary cancer-predisposing syndrome [RCV001023626] Chr5:112840745..112840747 [GRCh38]
Chr5:112176442..112176444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3400G>A (p.Asp1134Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551824]|Familial adenomatous polyposis 1 [RCV003537405]|Hereditary cancer-predisposing syndrome [RCV001020208]|not provided [RCV002305559] Chr5:112838994 [GRCh38]
Chr5:112174691 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3642C>T (p.Ser1214=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020782] Chr5:112839236 [GRCh38]
Chr5:112174933 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4426G>C (p.Val1476Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769560]|Hereditary cancer-predisposing syndrome [RCV001022463] Chr5:112840020 [GRCh38]
Chr5:112175717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5219C>A (p.Pro1740His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023746] Chr5:112840813 [GRCh38]
Chr5:112176510 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3656C>T (p.Ser1219Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649213]|Hereditary cancer-predisposing syndrome [RCV001020815] Chr5:112839250 [GRCh38]
Chr5:112174947 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3675C>T (p.Ala1225=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769533]|Hereditary cancer-predisposing syndrome [RCV001020859] Chr5:112839269 [GRCh38]
Chr5:112174966 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2544dup (p.Asp849fs) duplication Familial adenomatous polyposis 1 [RCV001843939]|Familial adenomatous polyposis 1 [RCV003337371] Chr5:112838133..112838134 [GRCh38]
Chr5:112173830..112173831 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3488G>T (p.Ser1163Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549516]|Hereditary cancer-predisposing syndrome [RCV001020423] Chr5:112839082 [GRCh38]
Chr5:112174779 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4685A>G (p.Asp1562Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744706]|Hereditary cancer-predisposing syndrome [RCV001022891] Chr5:112840279 [GRCh38]
Chr5:112175976 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3976G>C (p.Val1326Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021569] Chr5:112839570 [GRCh38]
Chr5:112175267 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3997A>G (p.Lys1333Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021608] Chr5:112839591 [GRCh38]
Chr5:112175288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4032A>C (p.Ser1344=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549543]|Hereditary cancer-predisposing syndrome [RCV001021717] Chr5:112839626 [GRCh38]
Chr5:112175323 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4064C>T (p.Ser1355Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744704]|Hereditary cancer-predisposing syndrome [RCV001021788] Chr5:112839658 [GRCh38]
Chr5:112175355 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4090A>C (p.Ser1364Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021846] Chr5:112839684 [GRCh38]
Chr5:112175381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5709C>G (p.Asn1903Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649296] Chr5:112841303 [GRCh38]
Chr5:112177000 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3715A>G (p.Arg1239Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769536]|Hereditary cancer-predisposing syndrome [RCV001020958] Chr5:112839309 [GRCh38]
Chr5:112175006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4298C>G (p.Pro1433Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022234] Chr5:112839892 [GRCh38]
Chr5:112175589 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3268C>T (p.Gln1090Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549506]|Familial adenomatous polyposis 1 [RCV003649209]|Hereditary cancer-predisposing syndrome [RCV001019531] Chr5:112838862 [GRCh38]
Chr5:112174559 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4724T>C (p.Leu1575Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650780]|not provided [RCV003478740] Chr5:112840318 [GRCh38]
Chr5:112176015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5897A>T (p.Asn1966Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650763] Chr5:112841491 [GRCh38]
Chr5:112177188 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1834G>C (p.Ala612Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650760] Chr5:112835041 [GRCh38]
Chr5:112170738 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7258T>C (p.Ser2420Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650759]|Hereditary cancer-predisposing syndrome [RCV002375210] Chr5:112842852 [GRCh38]
Chr5:112178549 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2572A>G (p.Ile858Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241309] Chr5:112838166 [GRCh38]
Chr5:112173863 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV001066456]|Familial adenomatous polyposis 1 [RCV003337351]|Hereditary cancer-predisposing syndrome [RCV003339456] Chr5:112775738 [GRCh38]
Chr5:112111435 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4483A>G (p.Ser1495Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769563]|Hereditary cancer-predisposing syndrome [RCV001022556] Chr5:112840077 [GRCh38]
Chr5:112175774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4484G>A (p.Ser1495Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537412]|Hereditary cancer-predisposing syndrome [RCV001022558]|not provided [RCV002466604] Chr5:112840078 [GRCh38]
Chr5:112175775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3418C>G (p.Pro1140Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769526]|Hereditary cancer-predisposing syndrome [RCV001020251] Chr5:112839012 [GRCh38]
Chr5:112174709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3277T>G (p.Phe1093Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019598] Chr5:112838871 [GRCh38]
Chr5:112174568 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3285G>A (p.Gln1095=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549509]|Hereditary cancer-predisposing syndrome [RCV001019667] Chr5:112838879 [GRCh38]
Chr5:112174576 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6878G>T (p.Gly2293Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562432]|Hereditary cancer-predisposing syndrome [RCV002365981] Chr5:112842472 [GRCh38]
Chr5:112178169 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3529A>C (p.Ile1177Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650726]|Hereditary cancer-predisposing syndrome [RCV003163674] Chr5:112839123 [GRCh38]
Chr5:112174820 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2387_2388del (p.Tyr796fs) deletion Familial adenomatous polyposis 1 [RCV003336338] Chr5:112837980..112837981 [GRCh38]
Chr5:112173677..112173678 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4817C>A (p.Ala1606Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650710] Chr5:112840411 [GRCh38]
Chr5:112176108 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5287A>G (p.Asn1763Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650711] Chr5:112840881 [GRCh38]
Chr5:112176578 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4379C>A (p.Ala1460Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022387] Chr5:112839973 [GRCh38]
Chr5:112175670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4505G>C (p.Cys1502Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236240]|Hereditary cancer-predisposing syndrome [RCV001022600] Chr5:112840099 [GRCh38]
Chr5:112175796 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8269G>T (p.Val2757Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538609] Chr5:112843863 [GRCh38]
Chr5:112179560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1956C>G (p.His652Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650685]|Hereditary cancer-predisposing syndrome [RCV002418708] Chr5:112835163 [GRCh38]
Chr5:112170860 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8183T>G (p.Val2728Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003130185]|Hereditary cancer-predisposing syndrome [RCV002429896] Chr5:112843777 [GRCh38]
Chr5:112179474 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4494T>C (p.Asp1498=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649216]|Hereditary cancer-predisposing syndrome [RCV001022572] Chr5:112840088 [GRCh38]
Chr5:112175785 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4588G>A (p.Glu1530Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769565]|Hereditary cancer-predisposing syndrome [RCV001022739] Chr5:112840182 [GRCh38]
Chr5:112175879 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3046G>A (p.Asp1016Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537498]|Hereditary cancer-predisposing syndrome [RCV001180690] Chr5:112838640 [GRCh38]
Chr5:112174337 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2633T>C (p.Leu878Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537499]|Hereditary cancer-predisposing syndrome [RCV001181152] Chr5:112838227 [GRCh38]
Chr5:112173924 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7565C>T (p.Pro2522Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769980]|Hereditary cancer-predisposing syndrome [RCV001181168] Chr5:112843159 [GRCh38]
Chr5:112178856 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3734del (p.Lys1245fs) deletion Familial adenomatous polyposis 1 [RCV003538610]|Hereditary cancer-predisposing syndrome [RCV002348692] Chr5:112839325 [GRCh38]
Chr5:112175022 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6020A>C (p.Tyr2007Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650747] Chr5:112841614 [GRCh38]
Chr5:112177311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4515C>T (p.Ser1505=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649217]|Hereditary cancer-predisposing syndrome [RCV001022616] Chr5:112840109 [GRCh38]
Chr5:112175806 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4546A>T (p.Ile1516Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022679] Chr5:112840140 [GRCh38]
Chr5:112175837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6578_6593delinsC (p.Lys2193_Leu2198delinsThr) indel Hereditary cancer-predisposing syndrome [RCV001181234] Chr5:112842172..112842187 [GRCh38]
Chr5:112177869..112177884 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3166A>C (p.Ile1056Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538614]|Hereditary cancer-predisposing syndrome [RCV002322053] Chr5:112838760 [GRCh38]
Chr5:112174457 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7816G>A (p.Val2606Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240540] Chr5:112843410 [GRCh38]
Chr5:112179107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4736T>G (p.Ile1579Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769570]|Hereditary cancer-predisposing syndrome [RCV001022970] Chr5:112840330 [GRCh38]
Chr5:112176027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4492G>C (p.Asp1498His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181408] Chr5:112840086 [GRCh38]
Chr5:112175783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2450G>A (p.Gly817Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561197] Chr5:112838044 [GRCh38]
Chr5:112173741 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6791G>C (p.Gly2264Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650672] Chr5:112842385 [GRCh38]
Chr5:112178082 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5805G>C (p.Gln1935His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650674] Chr5:112841399 [GRCh38]
Chr5:112177096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3994A>G (p.Thr1332Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652114] Chr5:112839588 [GRCh38]
Chr5:112175285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2789_2791del (p.Thr930_His931delinsAsn) deletion Hereditary cancer-predisposing syndrome [RCV001176613] Chr5:112838383..112838385 [GRCh38]
Chr5:112174080..112174082 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3470A>G (p.Glu1157Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020383] Chr5:112839064 [GRCh38]
Chr5:112174761 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6747A>G (p.Lys2249=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650624]|Hereditary cancer-predisposing syndrome [RCV001182097]|not provided [RCV003478715] Chr5:112842341 [GRCh38]
Chr5:112178038 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1409-16G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182136] Chr5:112827092 [GRCh38]
Chr5:112162789 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4146C>A (p.Leu1382=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650626]|Hereditary cancer-predisposing syndrome [RCV001182142] Chr5:112839740 [GRCh38]
Chr5:112175437 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5266T>C (p.Ser1756Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650776] Chr5:112840860 [GRCh38]
Chr5:112176557 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5781del (p.Gln1928fs) deletion Familial adenomatous polyposis 1 [RCV002563156]|Familial adenomatous polyposis 1 [RCV003538625] Chr5:112841374 [GRCh38]
Chr5:112177071 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1383G>T (p.Glu461Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649302] Chr5:112821966 [GRCh38]
Chr5:112157663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8303G>A (p.Ser2768Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182616] Chr5:112843897 [GRCh38]
Chr5:112179594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2345A>G (p.Lys782Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650679] Chr5:112837939 [GRCh38]
Chr5:112173636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5728A>G (p.Thr1910Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538607] Chr5:112841322 [GRCh38]
Chr5:112177019 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2183A>T (p.Asn728Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650684] Chr5:112837777 [GRCh38]
Chr5:112173474 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3517G>A (p.Val1173Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537406]|Hereditary cancer-predisposing syndrome [RCV001020497] Chr5:112839111 [GRCh38]
Chr5:112174808 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1410G>T (p.Gly470=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183344] Chr5:112827109 [GRCh38]
Chr5:112162806 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4816G>A (p.Ala1606Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183357] Chr5:112840410 [GRCh38]
Chr5:112176107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7027T>C (p.Ser2343Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770020]|Hereditary cancer-predisposing syndrome [RCV001183367]|not provided [RCV003442753] Chr5:112842621 [GRCh38]
Chr5:112178318 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3770A>C (p.Glu1257Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537408]|Hereditary cancer-predisposing syndrome [RCV001021094] Chr5:112839364 [GRCh38]
Chr5:112175061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3116G>C (p.Gly1039Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183414] Chr5:112838710 [GRCh38]
Chr5:112174407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5409A>T (p.Arg1803Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744743]|Hereditary cancer-predisposing syndrome [RCV001176444] Chr5:112841003 [GRCh38]
Chr5:112176700 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-11G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176469] Chr5:112754880 [GRCh38]
Chr5:112090577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1693G>T (p.Glu565Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336356] Chr5:112828922 [GRCh38]
Chr5:112164619 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6788A>G (p.Glu2263Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650665] Chr5:112842382 [GRCh38]
Chr5:112178079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1394del (p.Ala465fs) deletion Hereditary cancer-predisposing syndrome [RCV001182352] Chr5:112821977 [GRCh38]
Chr5:112157674 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2934A>G (p.Gln978=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744757]|Hereditary cancer-predisposing syndrome [RCV001182389] Chr5:112838528 [GRCh38]
Chr5:112174225 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4145_4155del (p.Leu1382fs) deletion Familial adenomatous polyposis 1 [RCV003649306] Chr5:112839738..112839748 [GRCh38]
Chr5:112175435..112175445 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3805dup (p.Ile1269fs) duplication Hereditary cancer-predisposing syndrome [RCV001021195] Chr5:112839397..112839398 [GRCh38]
Chr5:112175094..112175095 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.391A>G (p.Thr131Ala) single nucleotide variant Breast carcinoma [RCV001574073]|Familial adenomatous polyposis 1 [RCV003473591]|Hereditary cancer-predisposing syndrome [RCV001021432] Chr5:112767359 [GRCh38]
Chr5:112103056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2689A>G (p.Ile897Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650751]|Hereditary cancer-predisposing syndrome [RCV002451515] Chr5:112838283 [GRCh38]
Chr5:112173980 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8530T>G (p.Ter2844Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562554]|Familial adenomatous polyposis 1 [RCV003650755] Chr5:112844124 [GRCh38]
Chr5:112179821 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-3T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003649307]|Hereditary cancer-predisposing syndrome [RCV001177540] Chr5:112827105 [GRCh38]
Chr5:112162802 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4122A>G (p.Glu1374=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537410]|Hereditary cancer-predisposing syndrome [RCV001021909] Chr5:112839716 [GRCh38]
Chr5:112175413 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8450A>G (p.Asp2817Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002559874]|Hereditary cancer-predisposing syndrome [RCV001184798] Chr5:112844044 [GRCh38]
Chr5:112179741 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2525A>T (p.Asp842Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184881] Chr5:112838119 [GRCh38]
Chr5:112173816 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3336A>T (p.Thr1112=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177758] Chr5:112838930 [GRCh38]
Chr5:112174627 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3597G>A (p.Lys1199=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770056]|Hereditary cancer-predisposing syndrome [RCV001185146] Chr5:112839191 [GRCh38]
Chr5:112174888 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6424A>C (p.Ile2142Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185191] Chr5:112842018 [GRCh38]
Chr5:112177715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4597A>T (p.Asn1533Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650701] Chr5:112840191 [GRCh38]
Chr5:112175888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1707dup (p.Lys570fs) duplication Familial adenomatous polyposis 1 [RCV003650703] Chr5:112828935..112828936 [GRCh38]
Chr5:112164632..112164633 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2237G>C (p.Gly746Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV001213377] Chr5:112837831 [GRCh38]
Chr5:112173528 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.302G>T (p.Gly101Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177967] Chr5:112767270 [GRCh38]
Chr5:112102967 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.684A>G (p.Ile228Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177982] Chr5:112792484 [GRCh38]
Chr5:112128181 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.160A>C (p.Ser54Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185367] Chr5:112766350 [GRCh38]
Chr5:112102047 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6767C>A (p.Pro2256Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744786]|not specified [RCV001192831] Chr5:112842361 [GRCh38]
Chr5:112178058 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3806T>C (p.Ile1269Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744703]|Hereditary cancer-predisposing syndrome [RCV001021197] Chr5:112839400 [GRCh38]
Chr5:112175097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4153A>T (p.Ser1385Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021959] Chr5:112839747 [GRCh38]
Chr5:112175444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-3_456del deletion Familial adenomatous polyposis 1 [RCV003336258]|Hereditary cancer-predisposing syndrome [RCV001022102] Chr5:112775624..112775660 [GRCh38]
Chr5:112111321..112111357 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1665A>G (p.Ala555=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185589] Chr5:112828894 [GRCh38]
Chr5:112164591 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1321C>G (p.Pro441Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538600]|Hereditary cancer-predisposing syndrome [RCV002379749]|not specified [RCV001193494] Chr5:112821904 [GRCh38]
Chr5:112157601 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4539G>A (p.Glu1513=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744764]|Hereditary cancer-predisposing syndrome [RCV001185669] Chr5:112840133 [GRCh38]
Chr5:112175830 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7073C>T (p.Ser2358Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185763] Chr5:112842667 [GRCh38]
Chr5:112178364 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5366T>A (p.Val1789Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650812]|Hereditary cancer-predisposing syndrome [RCV002348781] Chr5:112840960 [GRCh38]
Chr5:112176657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.829G>A (p.Gly277Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650819] Chr5:112801378 [GRCh38]
Chr5:112137075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7744G>A (p.Glu2582Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652079] Chr5:112843338 [GRCh38]
Chr5:112179035 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5714A>T (p.Gln1905Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652069]|Hereditary cancer-predisposing syndrome [RCV002348801] Chr5:112841308 [GRCh38]
Chr5:112177005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2846T>C (p.Met949Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652072] Chr5:112838440 [GRCh38]
Chr5:112174137 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8473T>A (p.Ser2825Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652073]|Hereditary cancer-predisposing syndrome [RCV003284100] Chr5:112844067 [GRCh38]
Chr5:112179764 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5062G>A (p.Asp1688Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650655] Chr5:112840656 [GRCh38]
Chr5:112176353 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2211C>G (p.Tyr737Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337360] Chr5:112837805 [GRCh38]
Chr5:112173502 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1994T>G (p.Leu665Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337355]|Hereditary cancer-predisposing syndrome [RCV002418715] Chr5:112837588 [GRCh38]
Chr5:112173285 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7865_7866delinsAG (p.Pro2622Gln) indel Familial adenomatous polyposis 1 [RCV002241092]|Hereditary cancer-predisposing syndrome [RCV002411777] Chr5:112843459..112843460 [GRCh38]
Chr5:112179156..112179157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.86A>C (p.Asp29Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650712] Chr5:112754976 [GRCh38]
Chr5:112090673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1565T>C (p.Met522Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538612] Chr5:112827945 [GRCh38]
Chr5:112163642 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.547_548del (p.Asp183fs) deletion Familial adenomatous polyposis 1 [RCV003650697]|not provided [RCV001358573] Chr5:112780804..112780805 [GRCh38]
Chr5:112116501..112116502 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.3618dup (p.Lys1207Ter) duplication Familial adenomatous polyposis 1 [RCV002561791]|Familial adenomatous polyposis 1 [RCV003650699] Chr5:112839211..112839212 [GRCh38]
Chr5:112174908..112174909 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2632T>A (p.Leu878Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650706] Chr5:112838226 [GRCh38]
Chr5:112173923 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8180A>T (p.Gln2727Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650707]|Hereditary cancer-predisposing syndrome [RCV002429908] Chr5:112843774 [GRCh38]
Chr5:112179471 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-6_646-2del microsatellite Familial adenomatous polyposis 1 [RCV002562403] Chr5:112792435..112792439 [GRCh38]
Chr5:112128132..112128136 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7441A>T (p.Thr2481Ser) single nucleotide variant APC-related condition [RCV003398936]|Familial adenomatous polyposis 1 [RCV003538608] Chr5:112843035 [GRCh38]
Chr5:112178732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4332A>C (p.Gln1444His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650695]|Hereditary cancer-predisposing syndrome [RCV002327487] Chr5:112839926 [GRCh38]
Chr5:112175623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7387G>C (p.Glu2463Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650696] Chr5:112842981 [GRCh38]
Chr5:112178678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4183A>G (p.Ser1395Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650714]|Hereditary cancer-predisposing syndrome [RCV002255631] Chr5:112839777 [GRCh38]
Chr5:112175474 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7312_7314dup (p.Val2438dup) duplication Familial adenomatous polyposis 1 [RCV002561882] Chr5:112842903..112842904 [GRCh38]
Chr5:112178600..112178601 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5237T>C (p.Ile1746Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650716] Chr5:112840831 [GRCh38]
Chr5:112176528 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3458A>T (p.His1153Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650708] Chr5:112839052 [GRCh38]
Chr5:112174749 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2500T>A (p.Ser834Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650718] Chr5:112838094 [GRCh38]
Chr5:112173791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7772A>G (p.His2591Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538615] Chr5:112843366 [GRCh38]
Chr5:112179063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7844_7847del (p.Ile2615fs) deletion Familial adenomatous polyposis 1 [RCV002241262]|Familial adenomatous polyposis 1 [RCV003770254]|Hereditary cancer-predisposing syndrome [RCV002411812] Chr5:112843435..112843438 [GRCh38]
Chr5:112179132..112179135 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2742del (p.Cys914fs) deletion Familial adenomatous polyposis 1 [RCV003650740] Chr5:112838336 [GRCh38]
Chr5:112174033 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7874G>A (p.Ser2625Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650741] Chr5:112843468 [GRCh38]
Chr5:112179165 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5010T>C (p.Ala1670=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180757] Chr5:112840604 [GRCh38]
Chr5:112176301 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.367T>A (p.Phe123Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650787] Chr5:112767335 [GRCh38]
Chr5:112103032 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1477del (p.Tyr493fs) deletion Familial adenomatous polyposis 1 [RCV003650789] Chr5:112827176 [GRCh38]
Chr5:112162873 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2171C>T (p.Ala724Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650820] Chr5:112837765 [GRCh38]
Chr5:112173462 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7025_7027del (p.Leu2342del) deletion Familial adenomatous polyposis 1 [RCV003650821] Chr5:112842617..112842619 [GRCh38]
Chr5:112178314..112178316 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2467T>C (p.Ser823Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650822]|Hereditary cancer-predisposing syndrome [RCV002447167] Chr5:112838061 [GRCh38]
Chr5:112173758 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.303A>G (p.Gly101=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561115] Chr5:112767271 [GRCh38]
Chr5:112102968 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1103T>C (p.Val368Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650664]|Hereditary cancer-predisposing syndrome [RCV002451422] Chr5:112819135 [GRCh38]
Chr5:112154832 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5494G>A (p.Asp1832Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769990]|Hereditary cancer-predisposing syndrome [RCV001181700]|not provided [RCV002480607] Chr5:112841088 [GRCh38]
Chr5:112176785 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4435G>C (p.Val1479Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180906]|not specified [RCV002249765] Chr5:112840029 [GRCh38]
Chr5:112175726 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2935A>T (p.Met979Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650756] Chr5:112838529 [GRCh38]
Chr5:112174226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3233A>T (p.Tyr1078Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650764]|Hereditary cancer-predisposing syndrome [RCV002447125] Chr5:112838827 [GRCh38]
Chr5:112174524 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8354A>G (p.Asn2785Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650791] Chr5:112843948 [GRCh38]
Chr5:112179645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6418T>A (p.Ser2140Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652056] Chr5:112842012 [GRCh38]
Chr5:112177709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.57G>T (p.Glu19Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652062] Chr5:112754947 [GRCh38]
Chr5:112090644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8318C>T (p.Pro2773Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770278]|Hereditary cancer-predisposing syndrome [RCV001525437] Chr5:112843912 [GRCh38]
Chr5:112179609 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7220G>C (p.Gly2407Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652088] Chr5:112842814 [GRCh38]
Chr5:112178511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5607T>G (p.Asp1869Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538604] Chr5:112841201 [GRCh38]
Chr5:112176898 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4765C>A (p.Arg1589Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650652]|not specified [RCV001201197] Chr5:112840359 [GRCh38]
Chr5:112176056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4130_4135del (p.Val1377_Gln1378del) deletion Familial adenomatous polyposis 1 [RCV003538622] Chr5:112839723..112839728 [GRCh38]
Chr5:112175420..112175425 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7462C>G (p.Leu2488Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650784] Chr5:112843056 [GRCh38]
Chr5:112178753 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-9_1313-8del deletion Familial adenomatous polyposis 1 [RCV003650785] Chr5:112821886..112821887 [GRCh38]
Chr5:112157583..112157584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+3A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003650788] Chr5:112801386 [GRCh38]
Chr5:112137083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4948A>T (p.Asn1650Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650743] Chr5:112840542 [GRCh38]
Chr5:112176239 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7946C>T (p.Pro2649Leu) single nucleotide variant Desmoid disease, hereditary [RCV002484243]|Familial adenomatous polyposis 1 [RCV003650795] Chr5:112843540 [GRCh38]
Chr5:112179237 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.403_404insTT (p.Glu135fs) insertion Familial adenomatous polyposis 1 [RCV003652098] Chr5:112767371..112767372 [GRCh38]
Chr5:112103068..112103069 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3786T>A (p.Tyr1262Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001243559]|Familial adenomatous polyposis 1 [RCV003538634] Chr5:112839380 [GRCh38]
Chr5:112175077 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7297G>A (p.Glu2433Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561133]|not provided [RCV003222254]|not specified [RCV002268448] Chr5:112842891 [GRCh38]
Chr5:112178588 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.466G>A (p.Asp156Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652101]|Hereditary cancer-predisposing syndrome [RCV003346410]|not specified [RCV003320817] Chr5:112775672 [GRCh38]
Chr5:112111369 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4174del (p.Ser1392fs) deletion Familial adenomatous polyposis 1 [RCV002568654]|Familial adenomatous polyposis 1 [RCV003336357] Chr5:112839767 [GRCh38]
Chr5:112175464 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7927_7933delinsTA (p.Leu2643_Tyr2645delinsTer) indel Familial adenomatous polyposis 1 [RCV001245920] Chr5:112843521..112843527 [GRCh38]
Chr5:112179218..112179224 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1042C>T (p.Arg348Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336348]|Gastric cancer [RCV003163774]|Hereditary cancer-predisposing syndrome [RCV002393560] Chr5:112819074 [GRCh38]
Chr5:112154771 [GRCh37]
Chr5:5q22.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5465_5466delinsAA (p.Val1822Glu) indel Familial adenomatous polyposis 1 [RCV003652075] Chr5:112841059..112841060 [GRCh38]
Chr5:112176756..112176757 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5441A>C (p.Gln1814Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650798] Chr5:112841035 [GRCh38]
Chr5:112176732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3712_3726del (p.Ser1238_Gln1242del) deletion Familial adenomatous polyposis 1 [RCV003650803]|Hereditary cancer-predisposing syndrome [RCV002356990] Chr5:112839303..112839317 [GRCh38]
Chr5:112175000..112175014 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8380A>G (p.Ser2794Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650683] Chr5:112843974 [GRCh38]
Chr5:112179671 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2455A>G (p.Met819Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650669]|Hereditary cancer-predisposing syndrome [RCV002258157] Chr5:112838049 [GRCh38]
Chr5:112173746 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3148G>A (p.Ala1050Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561185]|Hereditary cancer-predisposing syndrome [RCV002322011] Chr5:112838742 [GRCh38]
Chr5:112174439 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 copy number gain not provided [RCV000849289] Chr5:89949118..129317455 [GRCh37]
Chr5:5q14.3-23.3		 pathogenic
NM_000038.6(APC):c.2943_2945delinsTT (p.Pro981_Ser982insTer) indel Familial adenomatous polyposis 1 [RCV003317006] Chr5:112838537..112838539 [GRCh38]
Chr5:112174234..112174236 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.862A>G (p.Thr288Ala) single nucleotide variant Inborn genetic diseases [RCV003249595] Chr5:112815522 [GRCh38]
Chr5:112151219 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3032C>A (p.Ala1011Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650661] Chr5:112838626 [GRCh38]
Chr5:112174323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.932A>G (p.Lys311Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650662] Chr5:112815592 [GRCh38]
Chr5:112151289 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5615T>C (p.Val1872Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650663] Chr5:112841209 [GRCh38]
Chr5:112176906 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4485T>G (p.Ser1495Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650727] Chr5:112840079 [GRCh38]
Chr5:112175776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4834C>A (p.Leu1612Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650728] Chr5:112840428 [GRCh38]
Chr5:112176125 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2057del (p.Asn686fs) deletion Familial adenomatous polyposis 1 [RCV003336343] Chr5:112837650 [GRCh38]
Chr5:112173347 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6717CTC[1] (p.Ser2242del) microsatellite Familial adenomatous polyposis 1 [RCV003650823]|Hereditary cancer-predisposing syndrome [RCV001524712]|not specified [RCV003320813] Chr5:112842311..112842313 [GRCh38]
Chr5:112178008..112178010 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3373G>T (p.Val1125Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769524]|Hereditary cancer-predisposing syndrome [RCV001020123] Chr5:112838967 [GRCh38]
Chr5:112174664 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1700G>A (p.Gly567Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744759]|Hereditary cancer-predisposing syndrome [RCV001182874] Chr5:112828929 [GRCh38]
Chr5:112164626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6592T>G (p.Leu2198Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650731]|Hereditary cancer-predisposing syndrome [RCV002375194] Chr5:112842186 [GRCh38]
Chr5:112177883 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7243G>C (p.Glu2415Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650733] Chr5:112842837 [GRCh38]
Chr5:112178534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4665A>G (p.Lys1555=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022869] Chr5:112840259 [GRCh38]
Chr5:112175956 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4689A>C (p.Leu1563=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022894] Chr5:112840283 [GRCh38]
Chr5:112175980 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4695T>C (p.Asp1565=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744707]|Hereditary cancer-predisposing syndrome [RCV001022908] Chr5:112840289 [GRCh38]
Chr5:112175986 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6344T>A (p.Leu2115Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336344]|Familial adenomatous polyposis 1 [RCV003650738] Chr5:112841938 [GRCh38]
Chr5:112177635 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4642A>T (p.Asn1548Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538618]|Hereditary cancer-predisposing syndrome [RCV002327517] Chr5:112840236 [GRCh38]
Chr5:112175933 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7600G>A (p.Glu2534Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650744] Chr5:112843194 [GRCh38]
Chr5:112178891 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3748A>G (p.Lys1250Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563803]|Familial adenomatous polyposis 1 [RCV003650826] Chr5:112839342 [GRCh38]
Chr5:112175039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6598A>T (p.Thr2200Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002567917]|Familial adenomatous polyposis 1 [RCV003652077]|Hereditary cancer-predisposing syndrome [RCV003284102] Chr5:112842192 [GRCh38]
Chr5:112177889 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183192] Chr5:112844131 [GRCh38]
Chr5:112179828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.225T>C (p.Leu75=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537491]|Hereditary cancer-predisposing syndrome [RCV001176174] Chr5:112767193 [GRCh38]
Chr5:112102890 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2576G>A (p.Gly859Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650749] Chr5:112838170 [GRCh38]
Chr5:112173867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3790G>A (p.Val1264Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538620] Chr5:112839384 [GRCh38]
Chr5:112175081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2720G>T (p.Gly907Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650750]|not provided [RCV001776149] Chr5:112838314 [GRCh38]
Chr5:112174011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4535A>G (p.Asp1512Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652080] Chr5:112840129 [GRCh38]
Chr5:112175826 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3964G>C (p.Glu1322Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176383] Chr5:112839558 [GRCh38]
Chr5:112175255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5530C>T (p.His1844Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770037]|Hereditary cancer-predisposing syndrome [RCV001184067] Chr5:112841124 [GRCh38]
Chr5:112176821 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7220G>A (p.Gly2407Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184186] Chr5:112842814 [GRCh38]
Chr5:112178511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2620T>A (p.Ser874Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177001] Chr5:112838214 [GRCh38]
Chr5:112173911 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3739G>C (p.Ala1247Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652085] Chr5:112839333 [GRCh38]
Chr5:112175030 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8247A>G (p.Ser2749=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744745]|Hereditary cancer-predisposing syndrome [RCV001177117] Chr5:112843841 [GRCh38]
Chr5:112179538 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1035A>G (p.Ile345Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537494]|Hereditary cancer-predisposing syndrome [RCV001177192] Chr5:112819067 [GRCh38]
Chr5:112154764 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2653G>T (p.Ala885Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769898]|Hereditary cancer-predisposing syndrome [RCV001177196] Chr5:112838247 [GRCh38]
Chr5:112173944 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2267A>G (p.Lys756Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650773] Chr5:112837861 [GRCh38]
Chr5:112173558 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6744A>G (p.Lys2248=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770269] Chr5:112842338 [GRCh38]
Chr5:112178035 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.410T>G (p.Leu137Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652060] Chr5:112767378 [GRCh38]
Chr5:112103075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3861dup (p.Gly1288fs) duplication Hereditary cancer-predisposing syndrome [RCV001021312] Chr5:112839454..112839455 [GRCh38]
Chr5:112175151..112175152 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3892dup (p.Ser1298fs) duplication Familial adenomatous polyposis 1 [RCV003337347]|Hereditary cancer-predisposing syndrome [RCV001021374] Chr5:112839484..112839485 [GRCh38]
Chr5:112175181..112175182 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6749G>T (p.Gly2250Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650778]|Hereditary cancer-predisposing syndrome [RCV002375218] Chr5:112842343 [GRCh38]
Chr5:112178040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7609T>C (p.Ser2537Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650781] Chr5:112843203 [GRCh38]
Chr5:112178900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3796G>T (p.Asp1266Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650783]|Hereditary cancer-predisposing syndrome [RCV003163766] Chr5:112839390 [GRCh38]
Chr5:112175087 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3946G>C (p.Ala1316Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769545]|Hereditary cancer-predisposing syndrome [RCV001021490] Chr5:112839540 [GRCh38]
Chr5:112175237 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3954T>C (p.Asp1318=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021515] Chr5:112839548 [GRCh38]
Chr5:112175245 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4031C>T (p.Ser1344Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021716] Chr5:112839625 [GRCh38]
Chr5:112175322 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4054G>T (p.Val1352Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649292] Chr5:112839648 [GRCh38]
Chr5:112175345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4179dup (p.Asp1394Ter) duplication Hereditary cancer-predisposing syndrome [RCV001021995] Chr5:112839771..112839772 [GRCh38]
Chr5:112175468..112175469 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3901A>T (p.Thr1301Ser) single nucleotide variant APC-Associated Polyposis Disorders [RCV001154642] Chr5:112839495 [GRCh38]
Chr5:112175192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2926del (p.Arg976fs) deletion Familial adenomatous polyposis 1 [RCV003336284] Chr5:112838517 [GRCh38]
Chr5:112174214 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3803C>T (p.Pro1268Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240617] Chr5:112839397 [GRCh38]
Chr5:112175094 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7488T>C (p.His2496=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177970] Chr5:112843082 [GRCh38]
Chr5:112178779 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.901C>A (p.Pro301Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178030] Chr5:112815561 [GRCh38]
Chr5:112151258 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422G>A (p.Arg141Lys) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155265]|Familial adenomatous polyposis 1 [RCV003467664]|Hereditary cancer-predisposing syndrome [RCV001022093] Chr5:112767390 [GRCh38]
Chr5:112103087 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.929C>T (p.Thr310Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178063] Chr5:112815589 [GRCh38]
Chr5:112151286 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6273T>A (p.Gly2091=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178203] Chr5:112841867 [GRCh38]
Chr5:112177564 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7398T>A (p.Ser2466=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744747]|Hereditary cancer-predisposing syndrome [RCV001178213] Chr5:112842992 [GRCh38]
Chr5:112178689 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.477C>A (p.Tyr159Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336327]|Familial adenomatous polyposis 1 [RCV003538599]|Familial multiple polyposis syndrome [RCV001192977] Chr5:112775683 [GRCh38]
Chr5:112111380 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1408+7C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003650617]|Hereditary cancer-predisposing syndrome [RCV001178239] Chr5:112821998 [GRCh38]
Chr5:112157695 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.922C>T (p.Leu308=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002559087]|Hereditary cancer-predisposing syndrome [RCV001185547] Chr5:112815582 [GRCh38]
Chr5:112151279 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5245C>G (p.Gln1749Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562623]|Familial adenomatous polyposis 1 [RCV003650790]|Hereditary cancer-predisposing syndrome [RCV003584863]|not provided [RCV001751441] Chr5:112840839 [GRCh38]
Chr5:112176536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8173T>C (p.Phe2725Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650792] Chr5:112843767 [GRCh38]
Chr5:112179464 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4012C>G (p.Gln1338Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650793]|Hereditary cancer-predisposing syndrome [RCV002356969] Chr5:112839606 [GRCh38]
Chr5:112175303 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5750C>G (p.Pro1917Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650794]|Hereditary cancer-predisposing syndrome [RCV003584865] Chr5:112841344 [GRCh38]
Chr5:112177041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.591A>T (p.Arg197Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652086] Chr5:112780849 [GRCh38]
Chr5:112116546 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5822C>G (p.Pro1941Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649310]|Hereditary cancer-predisposing syndrome [RCV002355022] Chr5:112841416 [GRCh38]
Chr5:112177113 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7917A>T (p.Glu2639Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552617] Chr5:112843511 [GRCh38]
Chr5:112179208 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4240G>C (p.Val1414Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560166]|Familial adenomatous polyposis 1 [RCV003650650]|not specified [RCV001193499] Chr5:112839834 [GRCh38]
Chr5:112175531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7603A>G (p.Ser2535Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650804]|not specified [RCV003226448] Chr5:112843197 [GRCh38]
Chr5:112178894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3998A>G (p.Lys1333Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650805] Chr5:112839592 [GRCh38]
Chr5:112175289 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7926_7929del (p.Leu2643fs) deletion Familial adenomatous polyposis 1 [RCV003336349] Chr5:112843520..112843523 [GRCh38]
Chr5:112179217..112179220 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4363A>C (p.Asn1455His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022362] Chr5:112839957 [GRCh38]
Chr5:112175654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.436G>A (p.Ala146Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551853]|Hereditary cancer-predisposing syndrome [RCV001022370] Chr5:112775642 [GRCh38]
Chr5:112111339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6095T>G (p.Ile2032Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180971] Chr5:112841689 [GRCh38]
Chr5:112177386 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4804C>G (p.Pro1602Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650806] Chr5:112840398 [GRCh38]
Chr5:112176095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.700C>G (p.Leu234Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652061] Chr5:112792500 [GRCh38]
Chr5:112128197 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2693A>G (p.His898Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652089]|Hereditary cancer-predisposing syndrome [RCV002430025] Chr5:112838287 [GRCh38]
Chr5:112173984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3053A>G (p.Asp1018Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744789] Chr5:112838647 [GRCh38]
Chr5:112174344 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2498G>A (p.Ser833Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538628] Chr5:112838092 [GRCh38]
Chr5:112173789 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3944C>A (p.Ser1315Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538629] Chr5:112839538 [GRCh38]
Chr5:112175235 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7990T>C (p.Cys2664Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652064] Chr5:112843584 [GRCh38]
Chr5:112179281 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.437C>G (p.Ala146Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652092] Chr5:112775643 [GRCh38]
Chr5:112111340 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2924A>C (p.Lys975Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650813] Chr5:112838518 [GRCh38]
Chr5:112174215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5620C>A (p.Leu1874Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652067] Chr5:112841214 [GRCh38]
Chr5:112176911 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3668C>T (p.Ser1223Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652068]|Hereditary cancer-predisposing syndrome [RCV002451572] Chr5:112839262 [GRCh38]
Chr5:112174959 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7802G>C (p.Ser2601Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538603] Chr5:112843396 [GRCh38]
Chr5:112179093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2333A>C (p.Asn778Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652093] Chr5:112837927 [GRCh38]
Chr5:112173624 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1391dup (p.His464fs) duplication Familial adenomatous polyposis 1 [RCV002561083] Chr5:112821973..112821974 [GRCh38]
Chr5:112157670..112157671 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5387A>T (p.Lys1796Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652097] Chr5:112840981 [GRCh38]
Chr5:112176678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7886C>T (p.Thr2629Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650719] Chr5:112843480 [GRCh38]
Chr5:112179177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3271C>G (p.Pro1091Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650723] Chr5:112838865 [GRCh38]
Chr5:112174562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3850G>T (p.Glu1284Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650725] Chr5:112839444 [GRCh38]
Chr5:112175141 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6693T>G (p.Ile2231Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650816] Chr5:112842287 [GRCh38]
Chr5:112177984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4655_4656del (p.Glu1552fs) microsatellite Familial adenomatous polyposis 1 [RCV003337358]|not provided [RCV001508529] Chr5:112840247..112840248 [GRCh38]
Chr5:112175944..112175945 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5215A>C (p.Lys1739Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652071]|Hereditary cancer-predisposing syndrome [RCV002348803] Chr5:112840809 [GRCh38]
Chr5:112176506 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4085C>G (p.Ser1362Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650656] Chr5:112839679 [GRCh38]
Chr5:112175376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3055G>A (p.Gly1019Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650659] Chr5:112838649 [GRCh38]
Chr5:112174346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3041T>G (p.Met1014Arg) single nucleotide variant not provided [RCV003126968] Chr5:112838635 [GRCh38]
Chr5:112174332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-219C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003114873] Chr5:112707499 [GRCh38]
Chr5:112043196 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.166-28523C>T single nucleotide variant not provided [RCV003120206] Chr5:112737803 [GRCh38]
Chr5:112073500 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1131A>G (p.Lys377=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003104672] Chr5:112819163 [GRCh38]
Chr5:112154860 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+50A>G single nucleotide variant not provided [RCV001549984]|not specified [RCV002268512] Chr5:112780953 [GRCh38]
Chr5:112116650 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.2103G>A (p.Met701Ile) single nucleotide variant not provided [RCV001574487] Chr5:112837697 [GRCh38]
Chr5:112173394 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.481C>G (p.Gln161Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538808]|not provided [RCV001567916] Chr5:112775687 [GRCh38]
Chr5:112111384 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.469_470del (p.Trp157fs) deletion Familial adenomatous polyposis 1 [RCV003337548] Chr5:112775675..112775676 [GRCh38]
Chr5:112111372..112111373 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1408+1del deletion Familial adenomatous polyposis 1 [RCV003337549] Chr5:112821991 [GRCh38]
Chr5:112157688 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3563_3566del (p.Pro1188fs) deletion Familial adenomatous polyposis 1 [RCV003337550] Chr5:112839154..112839157 [GRCh38]
Chr5:112174851..112174854 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.221-302C>T single nucleotide variant not provided [RCV001575032] Chr5:112766887 [GRCh38]
Chr5:112102584 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+279C>T single nucleotide variant not provided [RCV001554885] Chr5:112766689 [GRCh38]
Chr5:112102386 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1959-143_1959-140dup duplication not provided [RCV001675289] Chr5:112837409..112837410 [GRCh38]
Chr5:112173106..112173107 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1744-158A>G single nucleotide variant not provided [RCV001639029] Chr5:112834793 [GRCh38]
Chr5:112170490 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.3241A>G (p.Ser1081Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463052]|Hereditary cancer-predisposing syndrome [RCV002324147]|not provided [RCV001569212] Chr5:112838835 [GRCh38]
Chr5:112174532 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+436A>G single nucleotide variant not provided [RCV001589328] Chr5:112822427 [GRCh38]
Chr5:112158124 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+310C>T single nucleotide variant not provided [RCV001551081] Chr5:112781213 [GRCh38]
Chr5:112116910 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934-132del deletion not provided [RCV001648781] Chr5:112818834 [GRCh38]
Chr5:112154531 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.532-996G>T single nucleotide variant not provided [RCV001586306] Chr5:112779794 [GRCh38]
Chr5:112115491 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1959-129T>A single nucleotide variant not provided [RCV001562289] Chr5:112837424 [GRCh38]
Chr5:112173121 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-1111dup duplication not provided [RCV001652592] Chr5:112779667..112779668 [GRCh38]
Chr5:112115364..112115365 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.5714A>C (p.Gln1905Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571273] Chr5:112841308 [GRCh38]
Chr5:112177005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6254G>C (p.Arg2085Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773054]|Hereditary cancer-predisposing syndrome [RCV002361323] Chr5:112841848 [GRCh38]
Chr5:112177545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1090G>A (p.Asp364Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534760] Chr5:112819122 [GRCh38]
Chr5:112154819 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-16T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745342]|not provided [RCV001564090] Chr5:112780774 [GRCh38]
Chr5:112116471 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707176C>T single nucleotide variant not provided [RCV001558910] Chr5:112707176 [GRCh38]
Chr5:112042873 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+54A>C single nucleotide variant not provided [RCV001594640] Chr5:112835219 [GRCh38]
Chr5:112170916 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.834+269C>A single nucleotide variant not provided [RCV001656975] Chr5:112801652 [GRCh38]
Chr5:112137349 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.934-111dup duplication not provided [RCV001714438] Chr5:112818847..112818848 [GRCh38]
Chr5:112154544..112154545 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.5745G>C (p.Lys1915Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343787]|not provided [RCV001635645] Chr5:112841339 [GRCh38]
Chr5:112177036 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.7047A>T (p.Ser2349=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002542229] Chr5:112842641 [GRCh38]
Chr5:112178338 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2889T>C (p.Ser963=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537369]|Hereditary cancer-predisposing syndrome [RCV002434286] Chr5:112838483 [GRCh38]
Chr5:112174180 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.555C>G (p.Thr185=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235687] Chr5:112780813 [GRCh38]
Chr5:112116510 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7401A>G (p.Pro2467=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235689] Chr5:112842995 [GRCh38]
Chr5:112178692 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5802C>T (p.Pro1934=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235646] Chr5:112841396 [GRCh38]
Chr5:112177093 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6015A>G (p.Ser2005=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235731] Chr5:112841609 [GRCh38]
Chr5:112177306 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7341T>C (p.Ala2447=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544420] Chr5:112842935 [GRCh38]
Chr5:112178632 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4647A>G (p.Gln1549=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544430]|Hereditary cancer-predisposing syndrome [RCV002336932] Chr5:112840241 [GRCh38]
Chr5:112175938 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7866C>A (p.Pro2622=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235691] Chr5:112843460 [GRCh38]
Chr5:112179157 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3340C>A (p.Arg1114=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537354]|Hereditary cancer-predisposing syndrome [RCV001020040] Chr5:112838934 [GRCh38]
Chr5:112174631 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2583C>A (p.Gly861=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235693]|Hereditary cancer-predisposing syndrome [RCV001180208] Chr5:112838177 [GRCh38]
Chr5:112173874 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3276T>C (p.His1092=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235759] Chr5:112838870 [GRCh38]
Chr5:112174567 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6849C>T (p.Ser2283=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537332]|Hereditary cancer-predisposing syndrome [RCV002363376] Chr5:112842443 [GRCh38]
Chr5:112178140 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7893C>A (p.Ser2631=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768698] Chr5:112843487 [GRCh38]
Chr5:112179184 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7866C>T (p.Pro2622=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537350] Chr5:112843460 [GRCh38]
Chr5:112179157 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5205G>C (p.Gly1735=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768690]|Hereditary cancer-predisposing syndrome [RCV001805923]|not provided [RCV001683682] Chr5:112840799 [GRCh38]
Chr5:112176496 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3960G>A (p.Val1320=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768691]|Hereditary cancer-predisposing syndrome [RCV003169192]|not provided [RCV000874924] Chr5:112839554 [GRCh38]
Chr5:112175251 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3717A>G (p.Arg1239=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537355]|Hereditary cancer-predisposing syndrome [RCV001020961] Chr5:112839311 [GRCh38]
Chr5:112175008 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5973G>A (p.Glu1991=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235736] Chr5:112841567 [GRCh38]
Chr5:112177264 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.489G>A (p.Gln163=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537371] Chr5:112775695 [GRCh38]
Chr5:112111392 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4947A>C (p.Ile1649=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235802]|Hereditary cancer-predisposing syndrome [RCV001023307] Chr5:112840541 [GRCh38]
Chr5:112176238 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1749A>C (p.Ser583=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649163] Chr5:112834956 [GRCh38]
Chr5:112170653 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7161T>C (p.Asn2387=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744674]|Hereditary cancer-predisposing syndrome [RCV002372656]|not specified [RCV001192981] Chr5:112842755 [GRCh38]
Chr5:112178452 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6504A>C (p.Leu2168=) single nucleotide variant APC-related condition [RCV003983282]|Familial adenomatous polyposis 1 [RCV003537356]|Hereditary cancer-predisposing syndrome [RCV001181770]|not provided [RCV003478585] Chr5:112842098 [GRCh38]
Chr5:112177795 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3102G>A (p.Glu1034=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649168]|Hereditary cancer-predisposing syndrome [RCV001181105] Chr5:112838696 [GRCh38]
Chr5:112174393 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7041G>A (p.Arg2347=) single nucleotide variant APC-related condition [RCV003933225]|Familial adenomatous polyposis 1 [RCV002235747]|Hereditary cancer-predisposing syndrome [RCV002372635] Chr5:112842635 [GRCh38]
Chr5:112178332 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2439T>C (p.Asn813=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649169] Chr5:112838033 [GRCh38]
Chr5:112173730 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2019T>C (p.Ser673=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235673] Chr5:112837613 [GRCh38]
Chr5:112173310 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1905A>G (p.Gly635=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235808] Chr5:112835112 [GRCh38]
Chr5:112170809 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6858C>G (p.Ala2286=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537368] Chr5:112842452 [GRCh38]
Chr5:112178149 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3681G>A (p.Arg1227=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002540019]|Hereditary cancer-predisposing syndrome [RCV002454048] Chr5:112839275 [GRCh38]
Chr5:112174972 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2802T>G (p.Thr934=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235966]|Hereditary cancer-predisposing syndrome [RCV001016648]|not provided [RCV003478580] Chr5:112838396 [GRCh38]
Chr5:112174093 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.1260T>C (p.Cys420=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537352]|Hereditary cancer-predisposing syndrome [RCV001524598] Chr5:112819292 [GRCh38]
Chr5:112154989 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7357A>C (p.Arg2453=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537353]|Hereditary cancer-predisposing syndrome [RCV002382113]|not provided [RCV002267048] Chr5:112842951 [GRCh38]
Chr5:112178648 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3603A>G (p.Ser1201=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537374]|Hereditary cancer-predisposing syndrome [RCV001020697] Chr5:112839197 [GRCh38]
Chr5:112174894 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5793C>T (p.Ser1931=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235950] Chr5:112841387 [GRCh38]
Chr5:112177084 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.111G>T (p.Leu37=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537381] Chr5:112755001 [GRCh38]
Chr5:112090698 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1503T>C (p.Ala501=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235637]|Hereditary cancer-predisposing syndrome [RCV001181806] Chr5:112827202 [GRCh38]
Chr5:112162899 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7671C>G (p.Ser2557=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537347] Chr5:112843265 [GRCh38]
Chr5:112178962 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1071C>A (p.Ile357=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235494]|Hereditary cancer-predisposing syndrome [RCV002416125] Chr5:112819103 [GRCh38]
Chr5:112154800 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1554G>T (p.Thr518=) single nucleotide variant not provided [RCV000932251] Chr5:112827934 [GRCh38]
Chr5:112163631 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6116T>G (p.Leu2039Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002558879]|Hereditary cancer-predisposing syndrome [RCV001178427] Chr5:112841710 [GRCh38]
Chr5:112177407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2774G>A (p.Ser925Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649260]|Hereditary cancer-predisposing syndrome [RCV002434424] Chr5:112838368 [GRCh38]
Chr5:112174065 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3680G>A (p.Arg1227Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649384]|Hereditary cancer-predisposing syndrome [RCV002451296] Chr5:112839274 [GRCh38]
Chr5:112174971 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5214C>T (p.His1738=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179654] Chr5:112840808 [GRCh38]
Chr5:112176505 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2664C>A (p.Ala888=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650639]|Hereditary cancer-predisposing syndrome [RCV001186973] Chr5:112838258 [GRCh38]
Chr5:112173955 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3271C>T (p.Pro1091Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770089]|Hereditary cancer-predisposing syndrome [RCV001186974] Chr5:112838865 [GRCh38]
Chr5:112174562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7340C>G (p.Ala2447Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001186975] Chr5:112842934 [GRCh38]
Chr5:112178631 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3666A>G (p.Ser1222=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179752] Chr5:112839260 [GRCh38]
Chr5:112174957 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8480G>A (p.Gly2827Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769950]|Hereditary cancer-predisposing syndrome [RCV001179764]|not provided [RCV001284727] Chr5:112844074 [GRCh38]
Chr5:112179771 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5316A>G (p.Pro1772=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744770]|Hereditary cancer-predisposing syndrome [RCV001187052] Chr5:112840910 [GRCh38]
Chr5:112176607 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1446C>G (p.Asp482Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770092]|Hereditary cancer-predisposing syndrome [RCV001187064]|not specified [RCV001193570] Chr5:112827145 [GRCh38]
Chr5:112162842 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6511G>A (p.Gly2171Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538587]|Hereditary cancer-predisposing syndrome [RCV001187083] Chr5:112842105 [GRCh38]
Chr5:112177802 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.178A>G (p.Met60Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650640]|Hereditary cancer-predisposing syndrome [RCV001187098] Chr5:112766368 [GRCh38]
Chr5:112102065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3566C>T (p.Ser1189Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538598]|Hereditary cancer-predisposing syndrome [RCV001192138] Chr5:112839160 [GRCh38]
Chr5:112174857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-15G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770175]|Hereditary cancer-predisposing syndrome [RCV001192159] Chr5:112821881 [GRCh38]
Chr5:112157578 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4115C>T (p.Pro1372Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003473727]|Hereditary cancer-predisposing syndrome [RCV001192226] Chr5:112839709 [GRCh38]
Chr5:112175406 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5833G>A (p.Ala1945Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650649]|Hereditary cancer-predisposing syndrome [RCV001192312] Chr5:112841427 [GRCh38]
Chr5:112177124 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7723T>C (p.Ser2575Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652058]|Hereditary cancer-predisposing syndrome [RCV002402734] Chr5:112843317 [GRCh38]
Chr5:112179014 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8291C>A (p.Ser2764Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650709] Chr5:112843885 [GRCh38]
Chr5:112179582 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3343G>C (p.Val1115Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561867]|Familial adenomatous polyposis 1 [RCV003538613] Chr5:112838937 [GRCh38]
Chr5:112174634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3556_3560del (p.Asp1186fs) deletion Familial adenomatous polyposis 1 [RCV003337356] Chr5:112839150..112839154 [GRCh38]
Chr5:112174847..112174851 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1814A>T (p.Asp605Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650715] Chr5:112835021 [GRCh38]
Chr5:112170718 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4562A>C (p.Glu1521Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649262] Chr5:112840156 [GRCh38]
Chr5:112175853 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7239G>C (p.Lys2413Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649263] Chr5:112842833 [GRCh38]
Chr5:112178530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7226del (p.Gly2409fs) deletion Hereditary cancer-predisposing syndrome [RCV001182660] Chr5:112842819 [GRCh38]
Chr5:112178516 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1621C>A (p.Gln541Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770012]|Hereditary cancer-predisposing syndrome [RCV001182841] Chr5:112828001 [GRCh38]
Chr5:112163698 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2510C>T (p.Ser837Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650628]|Hereditary cancer-predisposing syndrome [RCV001182919] Chr5:112838104 [GRCh38]
Chr5:112173801 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6617A>G (p.Asn2206Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179957] Chr5:112842211 [GRCh38]
Chr5:112177908 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6532A>G (p.Thr2178Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650641]|Hereditary cancer-predisposing syndrome [RCV001187394] Chr5:112842126 [GRCh38]
Chr5:112177823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7674T>G (p.Leu2558=) single nucleotide variant APC-related condition [RCV003963116]|Familial adenomatous polyposis 1 [RCV002240803]|Hereditary cancer-predisposing syndrome [RCV001187396] Chr5:112843268 [GRCh38]
Chr5:112178965 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7380T>C (p.Ala2460=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770099]|Hereditary cancer-predisposing syndrome [RCV001187418] Chr5:112842974 [GRCh38]
Chr5:112178671 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5276C>T (p.Ala1759Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002558939]|Hereditary cancer-predisposing syndrome [RCV001180166] Chr5:112840870 [GRCh38]
Chr5:112176567 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4072G>T (p.Ala1358Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649264]|Hereditary cancer-predisposing syndrome [RCV003307803] Chr5:112839666 [GRCh38]
Chr5:112175363 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8269G>A (p.Val2757Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649320] Chr5:112843863 [GRCh38]
Chr5:112179560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1336A>G (p.Ile446Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744741]|Hereditary cancer-predisposing syndrome [RCV001175753] Chr5:112821919 [GRCh38]
Chr5:112157616 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5314C>G (p.Pro1772Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176226] Chr5:112840908 [GRCh38]
Chr5:112176605 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1124G>T (p.Gly375Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770100]|Hereditary cancer-predisposing syndrome [RCV001187518] Chr5:112819156 [GRCh38]
Chr5:112154853 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6340A>C (p.Ser2114Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649265] Chr5:112841934 [GRCh38]
Chr5:112177631 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-4A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002240804]|Hereditary cancer-predisposing syndrome [RCV001187846] Chr5:112766322 [GRCh38]
Chr5:112102019 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6906A>C (p.Ser2302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187926]|not provided [RCV003326549] Chr5:112842500 [GRCh38]
Chr5:112178197 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6119A>T (p.Gln2040Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187957] Chr5:112841713 [GRCh38]
Chr5:112177410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.737C>G (p.Ser246Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770108]|Hereditary cancer-predisposing syndrome [RCV001187988] Chr5:112801286 [GRCh38]
Chr5:112136983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1421C>A (p.Ala474Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188022] Chr5:112827120 [GRCh38]
Chr5:112162817 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2431T>C (p.Ser811Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188067] Chr5:112838025 [GRCh38]
Chr5:112173722 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1693G>A (p.Glu565Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652087]|Hereditary cancer-predisposing syndrome [RCV002411885] Chr5:112828922 [GRCh38]
Chr5:112164619 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3619A>G (p.Lys1207Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002567951] Chr5:112839213 [GRCh38]
Chr5:112174910 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3654G>T (p.Thr1218=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649212]|Hereditary cancer-predisposing syndrome [RCV001020811] Chr5:112839248 [GRCh38]
Chr5:112174945 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1620_1621insGA (p.Gln541fs) insertion Hereditary cancer-predisposing syndrome [RCV001188231] Chr5:112827999..112828000 [GRCh38]
Chr5:112163696..112163697 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7399C>T (p.Pro2467Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV001355548]|Hereditary cancer-predisposing syndrome [RCV001188288] Chr5:112842993 [GRCh38]
Chr5:112178690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5603A>C (p.Asp1868Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744774]|Hereditary cancer-predisposing syndrome [RCV001188404] Chr5:112841197 [GRCh38]
Chr5:112176894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240647]|Familial adenomatous polyposis 1 [RCV003337354]|Familial multiple polyposis syndrome [RCV003230636]|Hereditary cancer-predisposing syndrome [RCV002393350]|not provided [RCV001092765] Chr5:112843107 [GRCh38]
Chr5:112178804 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4279C>T (p.Pro1427Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650653] Chr5:112839873 [GRCh38]
Chr5:112175570 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.181G>T (p.Ala61Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650654] Chr5:112766371 [GRCh38]
Chr5:112102068 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3710A>T (p.Gln1237Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020950] Chr5:112839304 [GRCh38]
Chr5:112175001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7750G>T (p.Ala2584Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188514] Chr5:112843344 [GRCh38]
Chr5:112179041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2067A>C (p.Ala689=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188589] Chr5:112837661 [GRCh38]
Chr5:112173358 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1213C>A (p.Arg405=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538592]|Hereditary cancer-predisposing syndrome [RCV001188819] Chr5:112819245 [GRCh38]
Chr5:112154942 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1743+15A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538593]|Hereditary cancer-predisposing syndrome [RCV001188844] Chr5:112828987 [GRCh38]
Chr5:112164684 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+13_135+14del microsatellite Hereditary cancer-predisposing syndrome [RCV001188970] Chr5:112755036..112755037 [GRCh38]
Chr5:112090733..112090734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8138T>G (p.Met2713Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650660] Chr5:112843732 [GRCh38]
Chr5:112179429 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1797C>A (p.Cys599Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538606] Chr5:112835004 [GRCh38]
Chr5:112170701 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8403G>A (p.Arg2801=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650642]|Hereditary cancer-predisposing syndrome [RCV001189012] Chr5:112843997 [GRCh38]
Chr5:112179694 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1341T>C (p.Cys447=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189058] Chr5:112821924 [GRCh38]
Chr5:112157621 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4358C>T (p.Pro1453Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189075] Chr5:112839952 [GRCh38]
Chr5:112175649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1598T>G (p.Leu533Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189084] Chr5:112827978 [GRCh38]
Chr5:112163675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7200A>G (p.Gly2400=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650643]|Hereditary cancer-predisposing syndrome [RCV001189086] Chr5:112842794 [GRCh38]
Chr5:112178491 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2388T>G (p.Tyr796Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189113] Chr5:112837982 [GRCh38]
Chr5:112173679 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6121G>A (p.Glu2041Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561661] Chr5:112841715 [GRCh38]
Chr5:112177412 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7880C>T (p.Ser2627Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650682]|Hereditary cancer-predisposing syndrome [RCV002411770] Chr5:112843474 [GRCh38]
Chr5:112179171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2126A>T (p.Asn709Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551364] Chr5:112837720 [GRCh38]
Chr5:112173417 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2214G>T (p.Lys738Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183669] Chr5:112837808 [GRCh38]
Chr5:112173505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4966_4967delinsAG (p.Ser1656=) indel Familial adenomatous polyposis 1 [RCV003769880]|Hereditary cancer-predisposing syndrome [RCV001176480] Chr5:112840560..112840561 [GRCh38]
Chr5:112176257..112176258 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+6A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003769890]|Hereditary cancer-predisposing syndrome [RCV001176890] Chr5:112828012 [GRCh38]
Chr5:112163709 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2573T>G (p.Ile858Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189315]|not provided [RCV002280164] Chr5:112838167 [GRCh38]
Chr5:112173864 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6090_6093del (p.Ser2031fs) deletion Familial adenomatous polyposis 1 [RCV003649271] Chr5:112841683..112841686 [GRCh38]
Chr5:112177380..112177383 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8317C>G (p.Pro2773Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649374] Chr5:112843911 [GRCh38]
Chr5:112179608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1195A>G (p.Arg399Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649375] Chr5:112819227 [GRCh38]
Chr5:112154924 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5201A>G (p.Lys1734Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537504]|Hereditary cancer-predisposing syndrome [RCV001184629] Chr5:112840795 [GRCh38]
Chr5:112176492 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6733C>G (p.Pro2245Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184666] Chr5:112842327 [GRCh38]
Chr5:112178024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-16G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184711] Chr5:112827092 [GRCh38]
Chr5:112162789 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3862G>C (p.Gly1288Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177733] Chr5:112839456 [GRCh38]
Chr5:112175153 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1174C>T (p.His392Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770134]|Hereditary cancer-predisposing syndrome [RCV001189493] Chr5:112819206 [GRCh38]
Chr5:112154903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1284A>G (p.Glu428=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240808]|Hereditary cancer-predisposing syndrome [RCV001189521] Chr5:112819316 [GRCh38]
Chr5:112155013 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5378C>T (p.Ala1793Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560053]|Hereditary cancer-predisposing syndrome [RCV001189523] Chr5:112840972 [GRCh38]
Chr5:112176669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1295A>C (p.Asp432Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189545] Chr5:112819327 [GRCh38]
Chr5:112155024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5794A>C (p.Thr1932Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770139]|Hereditary cancer-predisposing syndrome [RCV001189746] Chr5:112841388 [GRCh38]
Chr5:112177085 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7925C>T (p.Thr2642Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560063]|Familial adenomatous polyposis 1 [RCV003744778]|Hereditary cancer-predisposing syndrome [RCV001189787] Chr5:112843519 [GRCh38]
Chr5:112179216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1448G>T (p.Cys483Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189790] Chr5:112827147 [GRCh38]
Chr5:112162844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4956C>T (p.Ser1652=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002069088]|Hereditary cancer-predisposing syndrome [RCV001189824] Chr5:112840550 [GRCh38]
Chr5:112176247 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.*1609T>A single nucleotide variant APC-Associated Polyposis Disorders [RCV001155767] Chr5:112845735 [GRCh38]
Chr5:112181432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*1818A>G single nucleotide variant APC-Associated Polyposis Disorders [RCV001155768] Chr5:112845944 [GRCh38]
Chr5:112181641 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7843A>T (p.Ile2615Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650691] Chr5:112843437 [GRCh38]
Chr5:112179134 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1081C>T (p.His361Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650692]|Hereditary cancer-predisposing syndrome [RCV003163601] Chr5:112819113 [GRCh38]
Chr5:112154810 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7911T>G (p.Gly2637=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180920] Chr5:112843505 [GRCh38]
Chr5:112179202 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1496_1511del (p.Arg499fs) deletion Familial adenomatous polyposis 1 [RCV003649291] Chr5:112827194..112827209 [GRCh38]
Chr5:112162891..112162906 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4337C>T (p.Ala1446Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770058]|Hereditary cancer-predisposing syndrome [RCV001185187]|not provided [RCV001800959] Chr5:112839931 [GRCh38]
Chr5:112175628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*11G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177907] Chr5:112844137 [GRCh38]
Chr5:112179834 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7552A>G (p.Asn2518Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462657]|Familial adenomatous polyposis 1 [RCV003744762]|Hereditary cancer-predisposing syndrome [RCV001185303] Chr5:112843146 [GRCh38]
Chr5:112178843 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3026A>G (p.His1009Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744746]|Hereditary cancer-predisposing syndrome [RCV001178073]|not provided [RCV001776128] Chr5:112838620 [GRCh38]
Chr5:112174317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3568T>A (p.Ser1190Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744779]|Hereditary cancer-predisposing syndrome [RCV001189859] Chr5:112839162 [GRCh38]
Chr5:112174859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3819A>G (p.Arg1273=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650644]|Hereditary cancer-predisposing syndrome [RCV001190061] Chr5:112839413 [GRCh38]
Chr5:112175110 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2977A>G (p.Lys993Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650645]|Hereditary cancer-predisposing syndrome [RCV001190084] Chr5:112838571 [GRCh38]
Chr5:112174268 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3459_3461del (p.His1153_Glu1154delinsGln) deletion Familial adenomatous polyposis 1 [RCV003650693] Chr5:112839052..112839054 [GRCh38]
Chr5:112174749..112174751 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5125A>G (p.Thr1709Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538611] Chr5:112840719 [GRCh38]
Chr5:112176416 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8487A>C (p.Gln2829His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650700] Chr5:112844081 [GRCh38]
Chr5:112179778 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5944A>C (p.Lys1982Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561797] Chr5:112841538 [GRCh38]
Chr5:112177235 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6730A>G (p.Ser2244Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650704] Chr5:112842324 [GRCh38]
Chr5:112178021 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2021T>G (p.Leu674Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650705] Chr5:112837615 [GRCh38]
Chr5:112173312 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7879_7894del (p.Ser2627fs) deletion Familial adenomatous polyposis 1 [RCV002552622] Chr5:112843471..112843486 [GRCh38]
Chr5:112179168..112179183 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3812T>C (p.Phe1271Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649312] Chr5:112839406 [GRCh38]
Chr5:112175103 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.152T>A (p.Leu51Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649273] Chr5:112766342 [GRCh38]
Chr5:112102039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6873A>G (p.Gln2291=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650633]|Hereditary cancer-predisposing syndrome [RCV001185390] Chr5:112842467 [GRCh38]
Chr5:112178164 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5288A>G (p.Asn1763Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650616]|Hereditary cancer-predisposing syndrome [RCV001178232] Chr5:112840882 [GRCh38]
Chr5:112176579 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2773A>G (p.Ser925Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002558873]|Familial adenomatous polyposis 1 [RCV003537495]|Hereditary cancer-predisposing syndrome [RCV001178254] Chr5:112838367 [GRCh38]
Chr5:112174064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3955C>A (p.Pro1319Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190283] Chr5:112839549 [GRCh38]
Chr5:112175246 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7926T>A (p.Thr2642=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770143]|Hereditary cancer-predisposing syndrome [RCV001190285] Chr5:112843520 [GRCh38]
Chr5:112179217 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1926G>A (p.Val642=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538594]|Hereditary cancer-predisposing syndrome [RCV001190372] Chr5:112835133 [GRCh38]
Chr5:112170830 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7185G>A (p.Glu2395=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190377] Chr5:112842779 [GRCh38]
Chr5:112178476 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.458A>C (p.Lys153Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190601] Chr5:112775664 [GRCh38]
Chr5:112111361 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2835G>A (p.Arg945=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182555] Chr5:112838429 [GRCh38]
Chr5:112174126 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6107A>G (p.Asp2036Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649328] Chr5:112841701 [GRCh38]
Chr5:112177398 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6190A>G (p.Ser2064Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770070]|Hereditary cancer-predisposing syndrome [RCV001185765] Chr5:112841784 [GRCh38]
Chr5:112177481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+18G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003537497]|Hereditary cancer-predisposing syndrome [RCV001178648] Chr5:112766428 [GRCh38]
Chr5:112102125 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8158A>G (p.Asn2720Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185939] Chr5:112843752 [GRCh38]
Chr5:112179449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7469A>T (p.Asp2490Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770144]|Hereditary cancer-predisposing syndrome [RCV001190625] Chr5:112843063 [GRCh38]
Chr5:112178760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7332C>G (p.Ile2444Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770145]|Hereditary cancer-predisposing syndrome [RCV001190756] Chr5:112842926 [GRCh38]
Chr5:112178623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5107G>A (p.Gly1703Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV001876233]|Hereditary cancer-predisposing syndrome [RCV001190796] Chr5:112840701 [GRCh38]
Chr5:112176398 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1888G>C (p.Ala630Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190979] Chr5:112835095 [GRCh38]
Chr5:112170792 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8025C>T (p.Pro2675=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003106141]|Hereditary cancer-predisposing syndrome [RCV001183168] Chr5:112843619 [GRCh38]
Chr5:112179316 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.(?_112775617)_(112780913_?)del deletion Familial adenomatous polyposis 1 [RCV001033570]|Familial adenomatous polyposis 1 [RCV001862458] Chr5:112111314..112116610 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4576C>T (p.Pro1526Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181946] Chr5:112840170 [GRCh38]
Chr5:112175867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6509C>G (p.Pro2170Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181949] Chr5:112842103 [GRCh38]
Chr5:112177800 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112754891)_(112767400_?)dup duplication Familial adenomatous polyposis 1 [RCV001031137]|Familial adenomatous polyposis 1 [RCV001862441] Chr5:112090588..112103097 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5634G>A (p.Lys1878=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002558975]|Hereditary cancer-predisposing syndrome [RCV001180876] Chr5:112841228 [GRCh38]
Chr5:112176925 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6366A>C (p.Ala2122=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001186132] Chr5:112841960 [GRCh38]
Chr5:112177657 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2302C>G (p.His768Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650634]|Hereditary cancer-predisposing syndrome [RCV001186189] Chr5:112837896 [GRCh38]
Chr5:112173593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7210A>G (p.Met2404Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002558892]|Hereditary cancer-predisposing syndrome [RCV001178958] Chr5:112842804 [GRCh38]
Chr5:112178501 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1067T>C (p.Leu356Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650635]|Hereditary cancer-predisposing syndrome [RCV001186332] Chr5:112819099 [GRCh38]
Chr5:112154796 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1032T>A (p.Cys344Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336324]|Hereditary cancer-predisposing syndrome [RCV001191223] Chr5:112819064 [GRCh38]
Chr5:112154761 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2871G>C (p.Lys957Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV001863033]|Hereditary cancer-predisposing syndrome [RCV001191226] Chr5:112838465 [GRCh38]
Chr5:112174162 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5611_5612insGTG (p.Asp1870_Asp1871insGly) insertion Hereditary cancer-predisposing syndrome [RCV001191003] Chr5:112841203..112841204 [GRCh38]
Chr5:112176900..112176901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2015A>T (p.His672Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191251] Chr5:112837609 [GRCh38]
Chr5:112173306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4143A>G (p.Pro1381=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770156]|Hereditary cancer-predisposing syndrome [RCV001191255] Chr5:112839737 [GRCh38]
Chr5:112175434 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8385A>G (p.Ala2795=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191297] Chr5:112843979 [GRCh38]
Chr5:112179676 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934-7C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538597]|Hereditary cancer-predisposing syndrome [RCV001191361] Chr5:112818959 [GRCh38]
Chr5:112154656 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2852A>T (p.Tyr951Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563117]|Familial adenomatous polyposis 1 [RCV003538624] Chr5:112838446 [GRCh38]
Chr5:112174143 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4920G>A (p.Arg1640=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183681] Chr5:112840514 [GRCh38]
Chr5:112176211 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6664C>A (p.Pro2222Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176470] Chr5:112842258 [GRCh38]
Chr5:112177955 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6488A>G (p.Lys2163Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184374] Chr5:112842082 [GRCh38]
Chr5:112177779 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.317G>T (p.Arg106Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649208]|Hereditary cancer-predisposing syndrome [RCV001019017] Chr5:112767285 [GRCh38]
Chr5:112102982 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6797C>A (p.Thr2266Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537461]|Hereditary cancer-predisposing syndrome [RCV002365770] Chr5:112842391 [GRCh38]
Chr5:112178088 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7633G>A (p.Gly2545Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744766]|Hereditary cancer-predisposing syndrome [RCV001186390] Chr5:112843227 [GRCh38]
Chr5:112178924 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6706G>A (p.Val2236Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650620]|Hereditary cancer-predisposing syndrome [RCV001179147] Chr5:112842300 [GRCh38]
Chr5:112177997 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6846A>G (p.Leu2282=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744767]|Hereditary cancer-predisposing syndrome [RCV001186454] Chr5:112842440 [GRCh38]
Chr5:112178137 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5266TCT[4] (p.Ser1758dup) microsatellite Familial adenomatous polyposis 1 [RCV003650636]|Hereditary cancer-predisposing syndrome [RCV001186537] Chr5:112840859..112840860 [GRCh38]
Chr5:112176556..112176557 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5523T>C (p.Asp1841=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001186566] Chr5:112841117 [GRCh38]
Chr5:112176814 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5305A>G (p.Lys1769Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191464] Chr5:112840899 [GRCh38]
Chr5:112176596 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5188T>C (p.Ser1730Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240929]|Hereditary cancer-predisposing syndrome [RCV001191648] Chr5:112840782 [GRCh38]
Chr5:112176479 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*9A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191679] Chr5:112844135 [GRCh38]
Chr5:112179832 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1966C>T (p.Leu656=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002069164]|Hereditary cancer-predisposing syndrome [RCV001191698] Chr5:112837560 [GRCh38]
Chr5:112173257 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3676A>G (p.Lys1226Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV001876241]|Hereditary cancer-predisposing syndrome [RCV001191715] Chr5:112839270 [GRCh38]
Chr5:112174967 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.550A>G (p.Met184Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177314] Chr5:112780808 [GRCh38]
Chr5:112116505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7158G>C (p.Lys2386Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184944] Chr5:112842752 [GRCh38]
Chr5:112178449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5653A>G (p.Lys1885Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185123] Chr5:112841247 [GRCh38]
Chr5:112176944 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7492T>C (p.Ser2498Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185127] Chr5:112843086 [GRCh38]
Chr5:112178783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4295C>T (p.Pro1432Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649382]|Hereditary cancer-predisposing syndrome [RCV001525561] Chr5:112839889 [GRCh38]
Chr5:112175586 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6455C>G (p.Pro2152Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650637]|Hereditary cancer-predisposing syndrome [RCV001186623] Chr5:112842049 [GRCh38]
Chr5:112177746 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7229C>G (p.Ala2410Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537513]|Hereditary cancer-predisposing syndrome [RCV001186695] Chr5:112842823 [GRCh38]
Chr5:112178520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2815A>G (p.Lys939Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744769]|Hereditary cancer-predisposing syndrome [RCV001186863] Chr5:112838409 [GRCh38]
Chr5:112174106 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6184A>G (p.Lys2062Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744784]|Hereditary cancer-predisposing syndrome [RCV001191757] Chr5:112841778 [GRCh38]
Chr5:112177475 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5865T>A (p.Ala1955=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650648]|Hereditary cancer-predisposing syndrome [RCV001191778] Chr5:112841459 [GRCh38]
Chr5:112177156 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4972A>C (p.Ser1658Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191960] Chr5:112840566 [GRCh38]
Chr5:112176263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1682A>C (p.Lys561Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191963] Chr5:112828911 [GRCh38]
Chr5:112164608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1585C>T (p.Leu529Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770173]|Hereditary cancer-predisposing syndrome [RCV001192059] Chr5:112827965 [GRCh38]
Chr5:112163662 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6197G>A (p.Arg2066Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650809] Chr5:112841791 [GRCh38]
Chr5:112177488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.802G>A (p.Glu268Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650811] Chr5:112801351 [GRCh38]
Chr5:112137048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3711G>T (p.Gln1237His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185381] Chr5:112839305 [GRCh38]
Chr5:112175002 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7612A>G (p.Arg2538Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744785]|not specified [RCV001192800] Chr5:112843206 [GRCh38]
Chr5:112178903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.993G>T (p.Ser331=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236216]|Hereditary cancer-predisposing syndrome [RCV001019919] Chr5:112819025 [GRCh38]
Chr5:112154722 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3334A>G (p.Thr1112Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649210]|Hereditary cancer-predisposing syndrome [RCV001020016] Chr5:112838928 [GRCh38]
Chr5:112174625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2277C>G (p.Ala759=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235703]|Hereditary cancer-predisposing syndrome [RCV002255585] Chr5:112837871 [GRCh38]
Chr5:112173568 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.297G>T (p.Arg99=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235706]|Hereditary cancer-predisposing syndrome [RCV001187112] Chr5:112767265 [GRCh38]
Chr5:112102962 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5022A>G (p.Gly1674=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537357]|Hereditary cancer-predisposing syndrome [RCV003169372] Chr5:112840616 [GRCh38]
Chr5:112176313 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7482C>T (p.Ser2494=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537359] Chr5:112843076 [GRCh38]
Chr5:112178773 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.714A>G (p.Gln238=) single nucleotide variant Familial adenomatous polyposis 1 [RCV001409539] Chr5:112792514 [GRCh38]
Chr5:112128211 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7401ATC[1] (p.Ser2469del) microsatellite Familial adenomatous polyposis 1 [RCV003537360]|Hereditary cancer-predisposing syndrome [RCV002382129] Chr5:112842994..112842996 [GRCh38]
Chr5:112178691..112178693 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7653C>T (p.His2551=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235705] Chr5:112843247 [GRCh38]
Chr5:112178944 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4392G>A (p.Glu1464=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002235799] Chr5:112839986 [GRCh38]
Chr5:112175683 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7305T>A (p.Pro2435=) single nucleotide variant Familial adenomatous polyposis 1 [RCV000934632] Chr5:112842899 [GRCh38]
Chr5:112178596 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.834+280A>G single nucleotide variant not provided [RCV001561847] Chr5:112801663 [GRCh38]
Chr5:112137360 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1836A>G (p.Ala612=) single nucleotide variant not provided [RCV001562299] Chr5:112835043 [GRCh38]
Chr5:112170740 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3539G>C (p.Ser1180Thr) single nucleotide variant not provided [RCV002464836] Chr5:112839133 [GRCh38]
Chr5:112174830 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2736del (p.Leu912fs) deletion Familial adenomatous polyposis 1 [RCV003336853]|not provided [RCV003327869] Chr5:112838330 [GRCh38]
Chr5:112174027 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1477_1478dup (p.Ser494fs) duplication Familial multiple polyposis syndrome [RCV002470171] Chr5:112827175..112827176 [GRCh38]
Chr5:112162872..112162873 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.232G>C (p.Asp78His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745341]|Hereditary cancer-predisposing syndrome [RCV002458529]|not provided [RCV001563451] Chr5:112767200 [GRCh38]
Chr5:112102897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+3G>A single nucleotide variant not specified [RCV002466008] Chr5:112707885 [GRCh38]
Chr5:112043582 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2914G>C (p.Gly972Arg) single nucleotide variant not provided [RCV003234371] Chr5:112838508 [GRCh38]
Chr5:112174205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+136A>G single nucleotide variant not provided [RCV001559563] Chr5:112767526 [GRCh38]
Chr5:112103223 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127510.3(APC):c.5758C>T (p.Arg1920Ter) single nucleotide variant not provided [RCV002255771] Chr5:112841352 [GRCh38]
Chr5:112177049 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.135+223T>G single nucleotide variant not provided [RCV001544929] Chr5:112755248 [GRCh38]
Chr5:112090945 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8264C>A (p.Ser2755Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743836]|Hereditary cancer-predisposing syndrome [RCV002257204] Chr5:112843858 [GRCh38]
Chr5:112179555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3659C>A (p.Thr1220Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534847]|Hereditary cancer-predisposing syndrome [RCV002258467] Chr5:112839253 [GRCh38]
Chr5:112174950 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2730T>C (p.Thr910=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534851]|Hereditary cancer-predisposing syndrome [RCV002258742] Chr5:112838324 [GRCh38]
Chr5:112174021 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1499_1500dup (p.Ala501fs) microsatellite Familial multiple polyposis syndrome [RCV002469993] Chr5:112827195..112827196 [GRCh38]
Chr5:112162892..112162893 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.423-187dup duplication not provided [RCV001560668] Chr5:112775441..112775442 [GRCh38]
Chr5:112111138..112111139 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.778C>T (p.Gln260Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337415]|Familial multiple polyposis syndrome [RCV002470038] Chr5:112801327 [GRCh38]
Chr5:112137024 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.423-200C>A single nucleotide variant not provided [RCV001576979] Chr5:112775429 [GRCh38]
Chr5:112111126 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3890A>T (p.Asp1297Val) single nucleotide variant not specified [RCV002466012] Chr5:112839484 [GRCh38]
Chr5:112175181 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4184G>A (p.Ser1395Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775488]|not specified [RCV002466013] Chr5:112839778 [GRCh38]
Chr5:112175475 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4028_4029del (p.Ser1343fs) deletion Hereditary cancer-predisposing syndrome [RCV001021706] Chr5:112839621..112839622 [GRCh38]
Chr5:112175318..112175319 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4117C>A (p.Pro1373Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021900] Chr5:112839711 [GRCh38]
Chr5:112175408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4142del (p.Pro1381fs) deletion Hereditary cancer-predisposing syndrome [RCV001021943] Chr5:112839733 [GRCh38]
Chr5:112175430 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1216G>A (p.Val406Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769428]|Hereditary cancer-predisposing syndrome [RCV001010373] Chr5:112819248 [GRCh38]
Chr5:112154945 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4189G>C (p.Glu1397Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022007] Chr5:112839783 [GRCh38]
Chr5:112175480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4271C>T (p.Pro1424Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022190] Chr5:112839865 [GRCh38]
Chr5:112175562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4357_4358delinsTT (p.Pro1453Phe) indel Hereditary cancer-predisposing syndrome [RCV001022347] Chr5:112839951..112839952 [GRCh38]
Chr5:112175648..112175649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.607del (p.Gln203fs) deletion Familial adenomatous polyposis 1 [RCV003537460]|Hereditary cancer-predisposing syndrome [RCV002355088] Chr5:112780865 [GRCh38]
Chr5:112116562 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4375A>G (p.Thr1459Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022381] Chr5:112839969 [GRCh38]
Chr5:112175666 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3183A>G (p.Lys1061=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537402]|Hereditary cancer-predisposing syndrome [RCV001019042]|not provided [RCV003478636] Chr5:112838777 [GRCh38]
Chr5:112174474 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6743A>G (p.Lys2248Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553976] Chr5:112842337 [GRCh38]
Chr5:112178034 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4496G>C (p.Gly1499Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022574] Chr5:112840090 [GRCh38]
Chr5:112175787 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8465G>A (p.Ser2822Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553106]|Hereditary cancer-predisposing syndrome [RCV003584806] Chr5:112844059 [GRCh38]
Chr5:112179756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3364A>G (p.Asn1122Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020099] Chr5:112838958 [GRCh38]
Chr5:112174655 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7798C>G (p.Gln2600Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537459]|Hereditary cancer-predisposing syndrome [RCV002411592]|not provided [RCV002462315] Chr5:112843392 [GRCh38]
Chr5:112179089 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3385_3386del (p.Leu1129fs) deletion Familial adenomatous polyposis 1 [RCV003337346]|Hereditary cancer-predisposing syndrome [RCV001020154] Chr5:112838978..112838979 [GRCh38]
Chr5:112174675..112174676 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.528A>G (p.Glu176=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023870] Chr5:112775734 [GRCh38]
Chr5:112111431 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5297A>G (p.Asp1766Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744710]|Hereditary cancer-predisposing syndrome [RCV001023881] Chr5:112840891 [GRCh38]
Chr5:112176588 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1239A>G (p.Ile413Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769430]|Hereditary cancer-predisposing syndrome [RCV001010496] Chr5:112819271 [GRCh38]
Chr5:112154968 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5372A>G (p.Lys1791Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551885]|Hereditary cancer-predisposing syndrome [RCV001023991] Chr5:112840966 [GRCh38]
Chr5:112176663 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.340C>A (p.Pro114Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769525]|Hereditary cancer-predisposing syndrome [RCV001020227] Chr5:112767308 [GRCh38]
Chr5:112103005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4702GAT[5] (p.Asp1571dup) microsatellite Familial adenomatous polyposis 1 [RCV003769569]|Hereditary cancer-predisposing syndrome [RCV001022940] Chr5:112840295..112840296 [GRCh38]
Chr5:112175992..112175993 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3484T>A (p.Tyr1162Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649211]|Hereditary cancer-predisposing syndrome [RCV001020413] Chr5:112839078 [GRCh38]
Chr5:112174775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3366_3369del (p.Asn1122fs) deletion Familial adenomatous polyposis 1 [RCV003537386]|Familial multiple polyposis syndrome [RCV001844255]|not provided [RCV001008089] Chr5:112838958..112838961 [GRCh38]
Chr5:112174655..112174658 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4964C>T (p.Thr1655Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744709]|Hereditary cancer-predisposing syndrome [RCV001023335] Chr5:112840558 [GRCh38]
Chr5:112176255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4979T>C (p.Leu1660Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649219]|Hereditary cancer-predisposing syndrome [RCV001023354] Chr5:112840573 [GRCh38]
Chr5:112176270 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3925G>T (p.Glu1309Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001845052]|Familial adenomatous polyposis 1 [RCV003336256]|Hereditary cancer-predisposing syndrome [RCV001021453]|not provided [RCV001269628] Chr5:112839519 [GRCh38]
Chr5:112175216 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3952G>T (p.Asp1318Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021510] Chr5:112839546 [GRCh38]
Chr5:112175243 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1159C>G (p.Leu387Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649178]|Hereditary cancer-predisposing syndrome [RCV001010044]|not provided [RCV001843557] Chr5:112819191 [GRCh38]
Chr5:112154888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1163A>G (p.His388Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010061] Chr5:112819195 [GRCh38]
Chr5:112154892 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4604dup (p.Asn1535fs) duplication Familial adenomatous polyposis 1 [RCV003336259]|Hereditary cancer-predisposing syndrome [RCV001022770] Chr5:112840196..112840197 [GRCh38]
Chr5:112175893..112175894 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.646-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002539747]|Familial adenomatous polyposis 1 [RCV003538814]|Hereditary cancer-predisposing syndrome [RCV002361005]|not provided [RCV001723314] Chr5:112792445 [GRCh38]
Chr5:112128142 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7757G>A (p.Ser2586Asn) single nucleotide variant not provided [RCV001723464] Chr5:112843351 [GRCh38]
Chr5:112179048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4277G>T (p.Ser1426Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022198] Chr5:112839871 [GRCh38]
Chr5:112175568 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+28891G>C single nucleotide variant not provided [RCV001696397] Chr5:112736773 [GRCh38]
Chr5:112072470 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.4772C>G (p.Ala1591Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744708]|Hereditary cancer-predisposing syndrome [RCV001023020] Chr5:112840366 [GRCh38]
Chr5:112176063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4343C>A (p.Thr1448Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022327] Chr5:112839937 [GRCh38]
Chr5:112175634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+1059G>T single nucleotide variant not provided [RCV001614356] Chr5:112816652 [GRCh38]
Chr5:112152349 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.375T>C (p.Asn125=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236229]|Hereditary cancer-predisposing syndrome [RCV001021070] Chr5:112767343 [GRCh38]
Chr5:112103040 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3350C>T (p.Ser1117Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769523]|Hereditary cancer-predisposing syndrome [RCV001020059] Chr5:112838944 [GRCh38]
Chr5:112174641 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3367C>T (p.Gln1123Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336254]|Hereditary cancer-predisposing syndrome [RCV001020107] Chr5:112838961 [GRCh38]
Chr5:112174658 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3927A>G (p.Glu1309=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021454] Chr5:112839521 [GRCh38]
Chr5:112175218 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.394G>A (p.Gly132Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537409]|Hereditary cancer-predisposing syndrome [RCV001021500] Chr5:112767362 [GRCh38]
Chr5:112103059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3981A>C (p.Ser1327=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769548]|Hereditary cancer-predisposing syndrome [RCV001021576] Chr5:112839575 [GRCh38]
Chr5:112175272 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4045C>G (p.His1349Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001021743] Chr5:112839639 [GRCh38]
Chr5:112175336 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4084T>A (p.Ser1362Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649215]|Hereditary cancer-predisposing syndrome [RCV001021832] Chr5:112839678 [GRCh38]
Chr5:112175375 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4098T>C (p.Ala1366=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769551]|Hereditary cancer-predisposing syndrome [RCV001021854] Chr5:112839692 [GRCh38]
Chr5:112175389 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.627T>C (p.Asp209=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769869]|Hereditary cancer-predisposing syndrome [RCV001176015] Chr5:112780885 [GRCh38]
Chr5:112116582 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1862C>G (p.Thr621Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770021]|Hereditary cancer-predisposing syndrome [RCV001183387] Chr5:112835069 [GRCh38]
Chr5:112170766 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7030C>G (p.Gln2344Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769618]|Hereditary cancer-predisposing syndrome [RCV001025951] Chr5:112842624 [GRCh38]
Chr5:112178321 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1685C>A (p.Thr562Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769453]|Hereditary cancer-predisposing syndrome [RCV001012726] Chr5:112828914 [GRCh38]
Chr5:112164611 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7100C>T (p.Thr2367Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236288]|Hereditary cancer-predisposing syndrome [RCV001026044] Chr5:112842694 [GRCh38]
Chr5:112178391 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7114C>G (p.Gln2372Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026056] Chr5:112842708 [GRCh38]
Chr5:112178405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7131C>T (p.Asn2377=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026075] Chr5:112842725 [GRCh38]
Chr5:112178422 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7246C>T (p.Leu2416Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236290]|Hereditary cancer-predisposing syndrome [RCV001026192] Chr5:112842840 [GRCh38]
Chr5:112178537 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-3T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012985] Chr5:112834948 [GRCh38]
Chr5:112170645 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.1746A>T (p.Glu582Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012992] Chr5:112834953 [GRCh38]
Chr5:112170650 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.412G>C (p.Glu138Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176759] Chr5:112767380 [GRCh38]
Chr5:112103077 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5691C>T (p.His1897=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537503]|Hereditary cancer-predisposing syndrome [RCV001184118] Chr5:112841285 [GRCh38]
Chr5:112176982 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5755A>G (p.Asn1919Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770039]|Hereditary cancer-predisposing syndrome [RCV001184176] Chr5:112841349 [GRCh38]
Chr5:112177046 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1211T>C (p.Ile404Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177283]|not specified [RCV003320241] Chr5:112819243 [GRCh38]
Chr5:112154940 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1074G>A (p.Gln358=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769423]|Hereditary cancer-predisposing syndrome [RCV001009850] Chr5:112819106 [GRCh38]
Chr5:112154803 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8470G>A (p.Glu2824Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187700] Chr5:112844064 [GRCh38]
Chr5:112179761 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+17A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744772]|Hereditary cancer-predisposing syndrome [RCV001187719] Chr5:112801400 [GRCh38]
Chr5:112137097 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5827A>G (p.Arg1943Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180453] Chr5:112841421 [GRCh38]
Chr5:112177118 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.55G>A (p.Glu19Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744752]|Hereditary cancer-predisposing syndrome [RCV001180468] Chr5:112754945 [GRCh38]
Chr5:112090642 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8419A>T (p.Thr2807Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187754] Chr5:112844013 [GRCh38]
Chr5:112179710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8098A>T (p.Asn2700Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649317]|Hereditary cancer-predisposing syndrome [RCV002416372] Chr5:112843692 [GRCh38]
Chr5:112179389 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4830T>G (p.Ser1610Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023125] Chr5:112840424 [GRCh38]
Chr5:112176121 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7295C>G (p.Ser2432Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026236] Chr5:112842889 [GRCh38]
Chr5:112178586 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7322C>T (p.Ser2441Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026277] Chr5:112842916 [GRCh38]
Chr5:112178613 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7352C>A (p.Thr2451Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769620]|Hereditary cancer-predisposing syndrome [RCV001026315] Chr5:112842946 [GRCh38]
Chr5:112178643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7418C>T (p.Ser2473Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026410] Chr5:112843012 [GRCh38]
Chr5:112178709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.741G>C (p.Gln247His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026418] Chr5:112801290 [GRCh38]
Chr5:112136987 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7456C>T (p.Pro2486Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551964]|Familial adenomatous polyposis 1 [RCV003649249]|Hereditary cancer-predisposing syndrome [RCV001026457] Chr5:112843050 [GRCh38]
Chr5:112178747 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7491G>T (p.Ser2497=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744721]|Hereditary cancer-predisposing syndrome [RCV001026496]|not specified [RCV002222658] Chr5:112843085 [GRCh38]
Chr5:112178782 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7493C>T (p.Ser2498Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026498] Chr5:112843087 [GRCh38]
Chr5:112178784 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7544T>G (p.Ile2515Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744722]|Hereditary cancer-predisposing syndrome [RCV001026546] Chr5:112843138 [GRCh38]
Chr5:112178835 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7547A>G (p.Glu2516Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026547] Chr5:112843141 [GRCh38]
Chr5:112178838 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.754A>G (p.Thr252Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003148914]|Hereditary cancer-predisposing syndrome [RCV001026548] Chr5:112801303 [GRCh38]
Chr5:112137000 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7575C>A (p.Arg2525=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551971]|Hereditary cancer-predisposing syndrome [RCV001026579]|not provided [RCV001712849]|not specified [RCV003493782] Chr5:112843169 [GRCh38]
Chr5:112178866 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+17T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002067949]|Hereditary cancer-predisposing syndrome [RCV001184710] Chr5:112822008 [GRCh38]
Chr5:112157705 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+19C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003537505]|Hereditary cancer-predisposing syndrome [RCV001184713] Chr5:112828025 [GRCh38]
Chr5:112163722 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.796G>A (p.Val266Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650615]|Hereditary cancer-predisposing syndrome [RCV001177442]|not provided [RCV001751310] Chr5:112801345 [GRCh38]
Chr5:112137042 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7844T>G (p.Ile2615Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184856] Chr5:112843438 [GRCh38]
Chr5:112179135 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1322C>T (p.Pro441Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537506]|Hereditary cancer-predisposing syndrome [RCV001184908] Chr5:112821905 [GRCh38]
Chr5:112157602 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.238A>G (p.Ser80Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184918] Chr5:112767206 [GRCh38]
Chr5:112102903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7319A>G (p.Gln2440Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184942] Chr5:112842913 [GRCh38]
Chr5:112178610 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4374T>G (p.Pro1458=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184952] Chr5:112839968 [GRCh38]
Chr5:112175665 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4487C>T (p.Thr1496Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537508]|Hereditary cancer-predisposing syndrome [RCV001184957] Chr5:112840081 [GRCh38]
Chr5:112175778 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1533A>G (p.Gly511=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177763] Chr5:112827232 [GRCh38]
Chr5:112162929 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5000A>G (p.Asn1667Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649220]|Hereditary cancer-predisposing syndrome [RCV001023403]|not provided [RCV001800936] Chr5:112840594 [GRCh38]
Chr5:112176291 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2970T>A (p.Asp990Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187801] Chr5:112838564 [GRCh38]
Chr5:112174261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5846A>C (p.Glu1949Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744773]|Hereditary cancer-predisposing syndrome [RCV001187818] Chr5:112841440 [GRCh38]
Chr5:112177137 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6088C>G (p.Leu2030Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188161] Chr5:112841682 [GRCh38]
Chr5:112177379 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3302C>T (p.Pro1101Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744702]|Hereditary cancer-predisposing syndrome [RCV001019817]|not provided [RCV003324809] Chr5:112838896 [GRCh38]
Chr5:112174593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3348T>G (p.Gly1116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020053] Chr5:112838942 [GRCh38]
Chr5:112174639 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7727C>T (p.Ala2576Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649253]|Hereditary cancer-predisposing syndrome [RCV001026758]|not provided [RCV001759717] Chr5:112843321 [GRCh38]
Chr5:112179018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7737A>G (p.Glu2579=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026767] Chr5:112843331 [GRCh38]
Chr5:112179028 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7743T>C (p.Ser2581=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769630]|Hereditary cancer-predisposing syndrome [RCV001026776] Chr5:112843337 [GRCh38]
Chr5:112179034 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs) microsatellite Familial adenomatous polyposis 1 [RCV002552418]|Familial adenomatous polyposis 1 [RCV003336275]|Hereditary cancer-predisposing syndrome [RCV001026814]|not provided [RCV001776090] Chr5:112843388..112843391 [GRCh38]
Chr5:112179085..112179088 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.-8A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185170] Chr5:112754883 [GRCh38]
Chr5:112090580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1835C>G (p.Ala612Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003469297]|Hereditary cancer-predisposing syndrome [RCV001177980] Chr5:112835042 [GRCh38]
Chr5:112170739 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2324A>G (p.Asn775Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537509]|Hereditary cancer-predisposing syndrome [RCV001185354]|not provided [RCV001560847] Chr5:112837918 [GRCh38]
Chr5:112173615 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-3_1del (p.Met1fs) deletion Hereditary cancer-predisposing syndrome [RCV001185401] Chr5:112754887..112754890 [GRCh38]
Chr5:112090584..112090587 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5078A>G (p.Glu1693Gly) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157158]|Familial adenomatous polyposis 1 [RCV003537413]|Hereditary cancer-predisposing syndrome [RCV001023501] Chr5:112840672 [GRCh38]
Chr5:112176369 [GRCh37]
Chr5:5q22.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.4049A>C (p.Lys1350Thr) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155474]|Familial adenomatous polyposis 1 [RCV003537483]|Hereditary cancer-predisposing syndrome [RCV002320380] Chr5:112839643 [GRCh38]
Chr5:112175340 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6384T>A (p.Ala2128=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538589]|Hereditary cancer-predisposing syndrome [RCV001188275] Chr5:112841978 [GRCh38]
Chr5:112177675 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7898G>C (p.Gly2633Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770114]|Hereditary cancer-predisposing syndrome [RCV001188280] Chr5:112843492 [GRCh38]
Chr5:112179189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3831A>G (p.Leu1277=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188510] Chr5:112839425 [GRCh38]
Chr5:112175122 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1576A>C (p.Met526Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188544] Chr5:112827956 [GRCh38]
Chr5:112163653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5736T>C (p.Ala1912=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188602] Chr5:112841330 [GRCh38]
Chr5:112177027 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6439C>T (p.Pro2147Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538590]|Hereditary cancer-predisposing syndrome [RCV001188603] Chr5:112842033 [GRCh38]
Chr5:112177730 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-3C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002562418] Chr5:112766323 [GRCh38]
Chr5:112102020 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8009G>C (p.Arg2670Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650722] Chr5:112843603 [GRCh38]
Chr5:112179300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7938A>C (p.Gln2646His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649255]|Hereditary cancer-predisposing syndrome [RCV001026974]|not provided [RCV003320788] Chr5:112843532 [GRCh38]
Chr5:112179229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7953T>C (p.Val2651=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026993] Chr5:112843547 [GRCh38]
Chr5:112179244 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8049T>C (p.Ile2683=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027103] Chr5:112843643 [GRCh38]
Chr5:112179340 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8092A>C (p.Lys2698Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027161] Chr5:112843686 [GRCh38]
Chr5:112179383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.810C>T (p.Asn270=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027186] Chr5:112801359 [GRCh38]
Chr5:112137056 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8131G>T (p.Val2711Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768921]|Hereditary cancer-predisposing syndrome [RCV001027209] Chr5:112843725 [GRCh38]
Chr5:112179422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8139G>T (p.Met2713Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768922]|Hereditary cancer-predisposing syndrome [RCV001027213] Chr5:112843733 [GRCh38]
Chr5:112179430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8191C>T (p.Pro2731Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027261] Chr5:112843785 [GRCh38]
Chr5:112179482 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5111A>G (p.Lys1704Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744763]|Hereditary cancer-predisposing syndrome [RCV001185427] Chr5:112840705 [GRCh38]
Chr5:112176402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1073A>C (p.Gln358Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178215] Chr5:112819105 [GRCh38]
Chr5:112154802 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8368C>G (p.Pro2790Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770065]|Hereditary cancer-predisposing syndrome [RCV001185584]|not specified [RCV001824928] Chr5:112843962 [GRCh38]
Chr5:112179659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1180C>T (p.Gln394Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337343]|Hereditary cancer-predisposing syndrome [RCV001010162] Chr5:112819212 [GRCh38]
Chr5:112154909 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5170C>T (p.Leu1724Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769582]|Hereditary cancer-predisposing syndrome [RCV001023656] Chr5:112840764 [GRCh38]
Chr5:112176461 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1853G>A (p.Gly618Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538591]|Hereditary cancer-predisposing syndrome [RCV001188728] Chr5:112835060 [GRCh38]
Chr5:112170757 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1886T>C (p.Leu629Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560936]|Hereditary cancer-predisposing syndrome [RCV001188921] Chr5:112835093 [GRCh38]
Chr5:112170790 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4520G>A (p.Ser1507Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188927] Chr5:112840114 [GRCh38]
Chr5:112175811 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6717C>T (p.Ser2239=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744775]|Hereditary cancer-predisposing syndrome [RCV001188942] Chr5:112842311 [GRCh38]
Chr5:112178008 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5153C>T (p.Ala1718Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188974] Chr5:112840747 [GRCh38]
Chr5:112176444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7813C>G (p.Gln2605Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650729]|Hereditary cancer-predisposing syndrome [RCV003163678] Chr5:112843407 [GRCh38]
Chr5:112179104 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1873C>A (p.Gln625Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650730] Chr5:112835080 [GRCh38]
Chr5:112170777 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*1986C>T single nucleotide variant APC-Associated Polyposis Disorders [RCV001157480] Chr5:112846112 [GRCh38]
Chr5:112181809 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.85G>T (p.Asp29Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537463] Chr5:112754975 [GRCh38]
Chr5:112090672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.946T>C (p.Tyr316His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240205]|Hereditary cancer-predisposing syndrome [RCV002445263] Chr5:112818978 [GRCh38]
Chr5:112154675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2562A>G (p.Arg854=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185621] Chr5:112838156 [GRCh38]
Chr5:112173853 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8492C>G (p.Pro2831Arg) single nucleotide variant not specified [RCV001193493] Chr5:112844086 [GRCh38]
Chr5:112179783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4968T>C (p.Ser1656=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178378] Chr5:112840562 [GRCh38]
Chr5:112176259 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1805A>T (p.Asn602Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185687] Chr5:112835012 [GRCh38]
Chr5:112170709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.916A>C (p.Ser306Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178470] Chr5:112815576 [GRCh38]
Chr5:112151273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5228_5241del (p.Val1743fs) deletion Hereditary cancer-predisposing syndrome [RCV001023765] Chr5:112840820..112840833 [GRCh38]
Chr5:112176517..112176530 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5243A>G (p.Asp1748Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649226]|Hereditary cancer-predisposing syndrome [RCV001023795] Chr5:112840837 [GRCh38]
Chr5:112176534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5283C>G (p.Asn1761Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649227]|Hereditary cancer-predisposing syndrome [RCV001023858] Chr5:112840877 [GRCh38]
Chr5:112176574 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7943C>T (p.Ala2648Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744776]|Hereditary cancer-predisposing syndrome [RCV001189116]|not provided [RCV001587210] Chr5:112843537 [GRCh38]
Chr5:112179234 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2361T>G (p.Ser787Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189209] Chr5:112837955 [GRCh38]
Chr5:112173652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5703C>T (p.Thr1901=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189271] Chr5:112841297 [GRCh38]
Chr5:112176994 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.*13A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189370] Chr5:112844139 [GRCh38]
Chr5:112179836 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.357A>G (p.Pro119=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549521]|Hereditary cancer-predisposing syndrome [RCV001020648] Chr5:112767325 [GRCh38]
Chr5:112103022 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1204C>A (p.Arg402Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010316] Chr5:112819236 [GRCh38]
Chr5:112154933 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3117A>C (p.Gly1039=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537385]|Hereditary cancer-predisposing syndrome [RCV003307797]|not specified [RCV001002646] Chr5:112838711 [GRCh38]
Chr5:112174408 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2040A>C (p.Ala680=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744697]|Hereditary cancer-predisposing syndrome [RCV001014188] Chr5:112837634 [GRCh38]
Chr5:112173331 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6510A>G (p.Pro2170=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770184]|not specified [RCV001194206] Chr5:112842104 [GRCh38]
Chr5:112177801 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5924T>C (p.Ile1975Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185830] Chr5:112841518 [GRCh38]
Chr5:112177215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7249T>C (p.Ser2417Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770071]|Hereditary cancer-predisposing syndrome [RCV001185877] Chr5:112842843 [GRCh38]
Chr5:112178540 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*2111G>A single nucleotide variant APC-Associated Polyposis Disorders [RCV001157481] Chr5:112846237 [GRCh38]
Chr5:112181934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1086C>T (p.Gly362=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649323] Chr5:112819118 [GRCh38]
Chr5:112154815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5480T>A (p.Leu1827His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002237114] Chr5:112841074 [GRCh38]
Chr5:112176771 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.527A>C (p.Glu176Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550892]|Hereditary cancer-predisposing syndrome [RCV001023849] Chr5:112775733 [GRCh38]
Chr5:112111430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2095T>G (p.Trp699Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014413] Chr5:112837689 [GRCh38]
Chr5:112173386 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3271C>A (p.Pro1091Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178715] Chr5:112838865 [GRCh38]
Chr5:112174562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4881A>C (p.Gln1627His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178790] Chr5:112840475 [GRCh38]
Chr5:112176172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*655G>T single nucleotide variant APC-Associated Polyposis Disorders [RCV001151907] Chr5:112844781 [GRCh38]
Chr5:112180478 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.6301T>G (p.Trp2101Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769905]|Hereditary cancer-predisposing syndrome [RCV001177454] Chr5:112841895 [GRCh38]
Chr5:112177592 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1146G>A (p.Arg382=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184907] Chr5:112819178 [GRCh38]
Chr5:112154875 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3957T>A (p.Pro1319=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537507]|Hereditary cancer-predisposing syndrome [RCV001184956]|not specified [RCV001193534] Chr5:112839551 [GRCh38]
Chr5:112175248 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5230A>G (p.Lys1744Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185129] Chr5:112840824 [GRCh38]
Chr5:112176521 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8526T>G (p.Ser2842=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177863] Chr5:112844120 [GRCh38]
Chr5:112179817 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2484T>C (p.Thr828=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744777]|Hereditary cancer-predisposing syndrome [RCV001189569] Chr5:112838078 [GRCh38]
Chr5:112173775 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+8A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189570] Chr5:112780911 [GRCh38]
Chr5:112116608 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3735G>C (p.Lys1245Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189574] Chr5:112839329 [GRCh38]
Chr5:112175026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5579A>C (p.Asp1860Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189575] Chr5:112841173 [GRCh38]
Chr5:112176870 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+16T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189766] Chr5:112792545 [GRCh38]
Chr5:112128242 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5480T>C (p.Leu1827Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189784] Chr5:112841074 [GRCh38]
Chr5:112176771 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7200A>T (p.Gly2400=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189786] Chr5:112842794 [GRCh38]
Chr5:112178491 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3687T>C (p.Asn1229=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002069002]|Hereditary cancer-predisposing syndrome [RCV001020881] Chr5:112839281 [GRCh38]
Chr5:112174978 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8389A>C (p.Ser2797Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180682] Chr5:112843983 [GRCh38]
Chr5:112179680 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1236G>A (p.Gln412=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649180]|Hereditary cancer-predisposing syndrome [RCV001010483] Chr5:112819268 [GRCh38]
Chr5:112154965 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5377G>A (p.Ala1793Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023996] Chr5:112840971 [GRCh38]
Chr5:112176668 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.538T>C (p.Leu180=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024023] Chr5:112780796 [GRCh38]
Chr5:112116493 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1267T>G (p.Trp423Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744689]|Hereditary cancer-predisposing syndrome [RCV001010663] Chr5:112819299 [GRCh38]
Chr5:112154996 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2188A>G (p.Met730Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769467]|Hereditary cancer-predisposing syndrome [RCV001014702]|not specified [RCV001844257] Chr5:112837782 [GRCh38]
Chr5:112173479 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2245T>G (p.Leu749Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014914] Chr5:112837839 [GRCh38]
Chr5:112173536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4577C>G (p.Pro1526Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770075]|Hereditary cancer-predisposing syndrome [RCV001186107] Chr5:112840171 [GRCh38]
Chr5:112175868 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8196C>T (p.Asp2732=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537510]|Hereditary cancer-predisposing syndrome [RCV001186128] Chr5:112843790 [GRCh38]
Chr5:112179487 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6686C>A (p.Thr2229Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769936]|Hereditary cancer-predisposing syndrome [RCV001178846] Chr5:112842280 [GRCh38]
Chr5:112177977 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6947C>T (p.Pro2316Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744765]|Hereditary cancer-predisposing syndrome [RCV001186213] Chr5:112842541 [GRCh38]
Chr5:112178238 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7597T>C (p.Ser2533Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002559736]|Hereditary cancer-predisposing syndrome [RCV001178061] Chr5:112843191 [GRCh38]
Chr5:112178888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1805A>G (p.Asn602Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650618]|Hereditary cancer-predisposing syndrome [RCV001178299] Chr5:112835012 [GRCh38]
Chr5:112170709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5738T>C (p.Ile1913Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538601]|not specified [RCV001193571] Chr5:112841332 [GRCh38]
Chr5:112177029 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5429A>G (p.Asp1810Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189999] Chr5:112841023 [GRCh38]
Chr5:112176720 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1953C>T (p.Asp651=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190031] Chr5:112835160 [GRCh38]
Chr5:112170857 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6224A>G (p.Asp2075Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190121] Chr5:112841818 [GRCh38]
Chr5:112177515 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4805C>T (p.Pro1602Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190228] Chr5:112840399 [GRCh38]
Chr5:112176096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6644A>G (p.Gln2215Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190280] Chr5:112842238 [GRCh38]
Chr5:112177935 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4853T>G (p.Leu1618Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649297] Chr5:112840447 [GRCh38]
Chr5:112176144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2399T>G (p.Val800Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649267] Chr5:112837993 [GRCh38]
Chr5:112173690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7715C>T (p.Ser2572Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181165] Chr5:112843309 [GRCh38]
Chr5:112179006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5445T>C (p.Asn1815=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024117] Chr5:112841039 [GRCh38]
Chr5:112176736 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5458T>A (p.Ser1820Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024134] Chr5:112841052 [GRCh38]
Chr5:112176749 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1281T>C (p.His427=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550760]|Hereditary cancer-predisposing syndrome [RCV001010736] Chr5:112819313 [GRCh38]
Chr5:112155010 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2287G>T (p.Glu763Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015071] Chr5:112837881 [GRCh38]
Chr5:112173578 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2361T>A (p.Ser787Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537395]|Hereditary cancer-predisposing syndrome [RCV001015291]|not provided [RCV003478623] Chr5:112837955 [GRCh38]
Chr5:112173652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2369G>C (p.Arg790Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769473]|Hereditary cancer-predisposing syndrome [RCV001015309] Chr5:112837963 [GRCh38]
Chr5:112173660 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2470C>T (p.Pro824Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649192]|Hereditary cancer-predisposing syndrome [RCV001015466] Chr5:112838064 [GRCh38]
Chr5:112173761 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2425A>G (p.Asn809Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769474]|Hereditary cancer-predisposing syndrome [RCV001015477] Chr5:112838019 [GRCh38]
Chr5:112173716 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2443A>G (p.Asn815Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537398]|Hereditary cancer-predisposing syndrome [RCV001015562] Chr5:112838037 [GRCh38]
Chr5:112173734 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-4A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178984] Chr5:112754887 [GRCh38]
Chr5:112090584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1526C>G (p.Thr509Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179004] Chr5:112827225 [GRCh38]
Chr5:112162922 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2531C>G (p.Ser844Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001875919]|Hereditary cancer-predisposing syndrome [RCV001179012] Chr5:112838125 [GRCh38]
Chr5:112173822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6364G>A (p.Ala2122Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537511]|Hereditary cancer-predisposing syndrome [RCV001186350] Chr5:112841958 [GRCh38]
Chr5:112177655 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*2AG[1] microsatellite Hereditary cancer-predisposing syndrome [RCV001190311] Chr5:112844128..112844131 [GRCh38]
Chr5:112179825..112179828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2752G>A (p.Glu918Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002559175]|Hereditary cancer-predisposing syndrome [RCV001190314] Chr5:112838346 [GRCh38]
Chr5:112174043 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6234T>G (p.Leu2078=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190584] Chr5:112841828 [GRCh38]
Chr5:112177525 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.155A>G (p.Gln52Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190617] Chr5:112766345 [GRCh38]
Chr5:112102042 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7553A>G (p.Asn2518Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190627] Chr5:112843147 [GRCh38]
Chr5:112178844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7672C>G (p.Leu2558Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190628] Chr5:112843266 [GRCh38]
Chr5:112178963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8015G>A (p.Gly2672Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650646]|Hereditary cancer-predisposing syndrome [RCV001190630] Chr5:112843609 [GRCh38]
Chr5:112179306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6148A>C (p.Lys2050Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560089]|Familial adenomatous polyposis 1 [RCV003744780]|Hereditary cancer-predisposing syndrome [RCV001190637] Chr5:112841742 [GRCh38]
Chr5:112177439 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3981A>G (p.Ser1327=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190745] Chr5:112839575 [GRCh38]
Chr5:112175272 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5661T>C (p.Asn1887=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770146]|Hereditary cancer-predisposing syndrome [RCV001190765] Chr5:112841255 [GRCh38]
Chr5:112176952 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.*7G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176667]|not provided [RCV001562961] Chr5:112844133 [GRCh38]
Chr5:112179830 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4760C>A (p.Ser1587Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336288] Chr5:112840354 [GRCh38]
Chr5:112176051 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.(?_112815478)_(112844126_?)del deletion Familial adenomatous polyposis 1 [RCV001032391]|Familial adenomatous polyposis 1 [RCV001862451] Chr5:112151175..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7105_7119del (p.Pro2369_Met2373del) deletion Familial adenomatous polyposis 1 [RCV003649377] Chr5:112842699..112842713 [GRCh38]
Chr5:112178396..112178410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*2AG[4] microsatellite APC-related condition [RCV003928776]|Hereditary cancer-predisposing syndrome [RCV001181202]|not provided [RCV001712872] Chr5:112844127..112844128 [GRCh38]
Chr5:112179824..112179825 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2480A>G (p.Asn827Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549425]|Hereditary cancer-predisposing syndrome [RCV001015646]|not provided [RCV003238267] Chr5:112838074 [GRCh38]
Chr5:112173771 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.252A>G (p.Gly84=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769478]|Hereditary cancer-predisposing syndrome [RCV001015846] Chr5:112767220 [GRCh38]
Chr5:112102917 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.2561G>C (p.Arg854Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769482]|Hereditary cancer-predisposing syndrome [RCV001015941] Chr5:112838155 [GRCh38]
Chr5:112173852 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1696G>T (p.Val566Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537512]|Hereditary cancer-predisposing syndrome [RCV001186392] Chr5:112828925 [GRCh38]
Chr5:112164622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2045G>T (p.Gly682Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179203] Chr5:112837639 [GRCh38]
Chr5:112173336 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1042C>A (p.Arg348=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560888]|Hereditary cancer-predisposing syndrome [RCV001186536] Chr5:112819074 [GRCh38]
Chr5:112154771 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-13T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003537490]|Hereditary cancer-predisposing syndrome [RCV001175821] Chr5:112766313 [GRCh38]
Chr5:112102010 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5702C>T (p.Thr1901Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001175922] Chr5:112841296 [GRCh38]
Chr5:112176993 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5813_5814del (p.Lys1938fs) deletion Hereditary cancer-predisposing syndrome [RCV001176019] Chr5:112841406..112841407 [GRCh38]
Chr5:112177103..112177104 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7162G>A (p.Ala2388Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650647]|Hereditary cancer-predisposing syndrome [RCV001190772] Chr5:112842756 [GRCh38]
Chr5:112178453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7679G>A (p.Arg2560Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560964]|Familial adenomatous polyposis 1 [RCV003538595]|Hereditary cancer-predisposing syndrome [RCV001190913] Chr5:112843273 [GRCh38]
Chr5:112178970 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.2704G>A (p.Glu902Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650614]|Hereditary cancer-predisposing syndrome [RCV001177279] Chr5:112838298 [GRCh38]
Chr5:112173995 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6175G>A (p.Asp2059Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003633564]|Hereditary cancer-predisposing syndrome [RCV001181435] Chr5:112841769 [GRCh38]
Chr5:112177466 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2635C>G (p.Gln879Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537399]|Hereditary cancer-predisposing syndrome [RCV001016183]|not provided [RCV003329361] Chr5:112838229 [GRCh38]
Chr5:112173926 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2644A>T (p.Thr882Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003633554]|Hereditary cancer-predisposing syndrome [RCV001016196] Chr5:112838238 [GRCh38]
Chr5:112173935 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2670C>G (p.Val890=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649195]|Hereditary cancer-predisposing syndrome [RCV001016270] Chr5:112838264 [GRCh38]
Chr5:112173961 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2676A>G (p.Glu892=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236206]|Hereditary cancer-predisposing syndrome [RCV001016283] Chr5:112838270 [GRCh38]
Chr5:112173967 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2714G>C (p.Ser905Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769488]|Hereditary cancer-predisposing syndrome [RCV001016385] Chr5:112838308 [GRCh38]
Chr5:112174005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2720G>A (p.Gly907Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649197]|Hereditary cancer-predisposing syndrome [RCV001016402] Chr5:112838314 [GRCh38]
Chr5:112174011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2738A>C (p.His913Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016445] Chr5:112838332 [GRCh38]
Chr5:112174029 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2789C>G (p.Thr930Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649199]|Hereditary cancer-predisposing syndrome [RCV001016611] Chr5:112838383 [GRCh38]
Chr5:112174080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5850G>T (p.Lys1950Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744768]|Hereditary cancer-predisposing syndrome [RCV001186602]|not provided [RCV001776134] Chr5:112841444 [GRCh38]
Chr5:112177141 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3792A>G (p.Val1264=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770083]|Hereditary cancer-predisposing syndrome [RCV001186627] Chr5:112839386 [GRCh38]
Chr5:112175083 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6898T>C (p.Ser2300Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650621]|Hereditary cancer-predisposing syndrome [RCV001179368] Chr5:112842492 [GRCh38]
Chr5:112178189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7726G>C (p.Ala2576Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176273] Chr5:112843320 [GRCh38]
Chr5:112179017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.716C>G (p.Ala239Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744760]|Hereditary cancer-predisposing syndrome [RCV001183623] Chr5:112792516 [GRCh38]
Chr5:112128213 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6604A>G (p.Lys2202Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560845]|Hereditary cancer-predisposing syndrome [RCV001183642] Chr5:112842198 [GRCh38]
Chr5:112177895 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-19G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003650613]|Hereditary cancer-predisposing syndrome [RCV001176390] Chr5:112801260 [GRCh38]
Chr5:112136957 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4308T>C (p.Ser1436=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176452] Chr5:112839902 [GRCh38]
Chr5:112175599 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2583C>T (p.Gly861=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178439] Chr5:112838177 [GRCh38]
Chr5:112173874 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6895C>A (p.Pro2299Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178502] Chr5:112842489 [GRCh38]
Chr5:112178186 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8502T>G (p.His2834Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191210] Chr5:112844096 [GRCh38]
Chr5:112179793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8188G>T (p.Ala2730Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538596]|Hereditary cancer-predisposing syndrome [RCV001191231] Chr5:112843782 [GRCh38]
Chr5:112179479 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8184G>C (p.Val2728=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191244] Chr5:112843778 [GRCh38]
Chr5:112179475 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.320C>A (p.Ser107Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191300] Chr5:112767288 [GRCh38]
Chr5:112102985 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+5_729+7delinsCT indel Hereditary cancer-predisposing syndrome [RCV001191320] Chr5:112792534..112792536 [GRCh38]
Chr5:112128231..112128233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2823A>T (p.Glu941Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191450] Chr5:112838417 [GRCh38]
Chr5:112174114 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4389A>G (p.Arg1463=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744781]|Hereditary cancer-predisposing syndrome [RCV001191473] Chr5:112839983 [GRCh38]
Chr5:112175680 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7770A>C (p.Lys2590Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191479] Chr5:112843364 [GRCh38]
Chr5:112179061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4229G>A (p.Cys1410Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191496] Chr5:112839823 [GRCh38]
Chr5:112175520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3713G>A (p.Ser1238Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649301] Chr5:112839307 [GRCh38]
Chr5:112175004 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112754891)_(112775747_?)dup duplication Familial adenomatous polyposis 1 [RCV001032858] Chr5:112090588..112111444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5799T>C (p.Phe1933=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744754]|Hereditary cancer-predisposing syndrome [RCV001181688] Chr5:112841393 [GRCh38]
Chr5:112177090 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5761G>C (p.Gly1921Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024498] Chr5:112841355 [GRCh38]
Chr5:112177052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5818A>C (p.Ile1940Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744711]|Hereditary cancer-predisposing syndrome [RCV001024567]|not provided [RCV001799719] Chr5:112841412 [GRCh38]
Chr5:112177109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5863G>A (p.Ala1955Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769598]|Hereditary cancer-predisposing syndrome [RCV001024620] Chr5:112841457 [GRCh38]
Chr5:112177154 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.586A>G (p.Ile196Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769599]|Hereditary cancer-predisposing syndrome [RCV001024624] Chr5:112780844 [GRCh38]
Chr5:112116541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5897A>G (p.Asn1966Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649230]|Hereditary cancer-predisposing syndrome [RCV001024652] Chr5:112841491 [GRCh38]
Chr5:112177188 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1383G>C (p.Glu461Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649182]|Hereditary cancer-predisposing syndrome [RCV001011268] Chr5:112821966 [GRCh38]
Chr5:112157663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5911T>G (p.Ser1971Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024676] Chr5:112841505 [GRCh38]
Chr5:112177202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2815_2816del (p.Lys939fs) deletion Hereditary cancer-predisposing syndrome [RCV001016669] Chr5:112838409..112838410 [GRCh38]
Chr5:112174106..112174107 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2830A>C (p.Asn944His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016719] Chr5:112838424 [GRCh38]
Chr5:112174121 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2844T>C (p.Ser948=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016755] Chr5:112838438 [GRCh38]
Chr5:112174135 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2855C>G (p.Ala952Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016771] Chr5:112838449 [GRCh38]
Chr5:112174146 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2864A>G (p.Glu955Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016824] Chr5:112838458 [GRCh38]
Chr5:112174155 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1024G>T (p.Asp342Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769495]|Hereditary cancer-predisposing syndrome [RCV001017052] Chr5:112819056 [GRCh38]
Chr5:112154753 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.81A>C (p.Leu27=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650638]|Hereditary cancer-predisposing syndrome [RCV001186757] Chr5:112754971 [GRCh38]
Chr5:112090668 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5404G>A (p.Glu1802Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001336068]|Familial adenomatous polyposis 1 [RCV003650622]|Hereditary cancer-predisposing syndrome [RCV001179531] Chr5:112840998 [GRCh38]
Chr5:112176695 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.480T>A (p.Ala160=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744748]|Hereditary cancer-predisposing syndrome [RCV001180005]|not provided [RCV003478709] Chr5:112775686 [GRCh38]
Chr5:112111383 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6973G>A (p.Gly2325Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240764]|Hereditary cancer-predisposing syndrome [RCV001180092] Chr5:112842567 [GRCh38]
Chr5:112178264 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4743T>C (p.Ser1581=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191651] Chr5:112840337 [GRCh38]
Chr5:112176034 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1101T>C (p.Ser367=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744782]|Hereditary cancer-predisposing syndrome [RCV001191667] Chr5:112819133 [GRCh38]
Chr5:112154830 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3967G>C (p.Val1323Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744783]|Hereditary cancer-predisposing syndrome [RCV001191691] Chr5:112839561 [GRCh38]
Chr5:112175258 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3725A>T (p.Gln1242Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554533]|not provided [RCV003329375] Chr5:112839319 [GRCh38]
Chr5:112175016 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112754891)_(112767400_?)del deletion Familial adenomatous polyposis 1 [RCV001033106]|Familial adenomatous polyposis 1 [RCV001873435] Chr5:112090588..112103097 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7717A>T (p.Ile2573Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554570] Chr5:112843311 [GRCh38]
Chr5:112179008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3472dup (p.Arg1158fs) duplication Familial adenomatous polyposis 1 [RCV003649313] Chr5:112839065..112839066 [GRCh38]
Chr5:112174762..112174763 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3084T>G (p.Ser1028Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554571]|Familial adenomatous polyposis 1 [RCV003650592]|not provided [RCV001200168] Chr5:112838678 [GRCh38]
Chr5:112174375 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.875dup (p.Leu292fs) duplication Familial adenomatous polyposis 1 [RCV002552625] Chr5:112815531..112815532 [GRCh38]
Chr5:112151228..112151229 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1313-14del deletion Familial adenomatous polyposis 1 [RCV003744755]|Hereditary cancer-predisposing syndrome [RCV001181750] Chr5:112821882 [GRCh38]
Chr5:112157579 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5471A>G (p.Asn1824Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769993]|Hereditary cancer-predisposing syndrome [RCV001181768] Chr5:112841065 [GRCh38]
Chr5:112176762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.138A>T (p.Glu46Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011331] Chr5:112766328 [GRCh38]
Chr5:112102025 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6030A>G (p.Lys2010=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649234]|Hereditary cancer-predisposing syndrome [RCV001024826] Chr5:112841624 [GRCh38]
Chr5:112177321 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.605A>T (p.Glu202Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024848] Chr5:112780863 [GRCh38]
Chr5:112116560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1070T>C (p.Ile357Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017200] Chr5:112819102 [GRCh38]
Chr5:112154799 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1108T>C (p.Leu370=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744699]|Hereditary cancer-predisposing syndrome [RCV001017345] Chr5:112819140 [GRCh38]
Chr5:112154837 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1111G>A (p.Gly371Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537400]|Hereditary cancer-predisposing syndrome [RCV001017355] Chr5:112819143 [GRCh38]
Chr5:112154840 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8437A>G (p.Thr2813Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770086]|Hereditary cancer-predisposing syndrome [RCV001186853] Chr5:112844031 [GRCh38]
Chr5:112179728 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5583T>C (p.Ser1861=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179665] Chr5:112841177 [GRCh38]
Chr5:112176874 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4591A>G (p.Asn1531Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001186963] Chr5:112840185 [GRCh38]
Chr5:112175882 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4239G>C (p.Met1413Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182576] Chr5:112839833 [GRCh38]
Chr5:112175530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2759A>G (p.Asn920Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770177]|Hereditary cancer-predisposing syndrome [RCV001192255] Chr5:112838353 [GRCh38]
Chr5:112174050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1319C>T (p.Ala440Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001192261] Chr5:112821902 [GRCh38]
Chr5:112157599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3062T>G (p.Leu1021Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001192287] Chr5:112838656 [GRCh38]
Chr5:112174353 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6033A>G (p.Ser2011=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770178]|Hereditary cancer-predisposing syndrome [RCV001192292] Chr5:112841627 [GRCh38]
Chr5:112177324 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1573T>G (p.Cys525Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537493]|Hereditary cancer-predisposing syndrome [RCV001176743] Chr5:112827953 [GRCh38]
Chr5:112163650 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7443T>G (p.Thr2481=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184349] Chr5:112843037 [GRCh38]
Chr5:112178734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7665A>G (p.Ser2555=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744761]|Hereditary cancer-predisposing syndrome [RCV001184371] Chr5:112843259 [GRCh38]
Chr5:112178956 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.(?_112801269)_(112844136_?)del deletion Familial adenomatous polyposis 1 [RCV001032023]|Familial adenomatous polyposis 1 [RCV001873433] Chr5:112136966..112179833 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6100T>C (p.Ser2034Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554536] Chr5:112841694 [GRCh38]
Chr5:112177391 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112707312)_(112844136_?)dup duplication Familial adenomatous polyposis 1 [RCV003153895] Chr5:112043009..112179833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8335G>A (p.Ala2779Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182116] Chr5:112843929 [GRCh38]
Chr5:112179626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7729T>C (p.Ser2577Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182155] Chr5:112843323 [GRCh38]
Chr5:112179020 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1466_1467del (p.Thr489fs) deletion Familial multiple polyposis syndrome [RCV001174577] Chr5:112827165..112827166 [GRCh38]
Chr5:112162862..112162863 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1476C>A (p.His492Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649184]|Hereditary cancer-predisposing syndrome [RCV001011748] Chr5:112827175 [GRCh38]
Chr5:112162872 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6363T>C (p.Ala2121=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025179] Chr5:112841957 [GRCh38]
Chr5:112177654 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.640G>C (p.Ala214Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769606]|Hereditary cancer-predisposing syndrome [RCV001025238] Chr5:112780898 [GRCh38]
Chr5:112116595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6447T>C (p.His2149=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537422]|Hereditary cancer-predisposing syndrome [RCV001025274]|not provided [RCV001310855] Chr5:112842041 [GRCh38]
Chr5:112177738 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2935A>G (p.Met979Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649201]|Hereditary cancer-predisposing syndrome [RCV001017568] Chr5:112838529 [GRCh38]
Chr5:112174226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.833A>C (p.Gln278Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017581] Chr5:112801382 [GRCh38]
Chr5:112137079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-17A>G single nucleotide variant Desmoid disease, hereditary [RCV002497341]|Familial adenomatous polyposis 1 [RCV003649202]|Hereditary cancer-predisposing syndrome [RCV001017598] Chr5:112815478 [GRCh38]
Chr5:112151175 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.2943C>G (p.Pro981=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017618] Chr5:112838537 [GRCh38]
Chr5:112174234 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2945C>G (p.Ser982Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017620] Chr5:112838539 [GRCh38]
Chr5:112174236 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8381G>A (p.Ser2794Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017653] Chr5:112843975 [GRCh38]
Chr5:112179672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8411A>G (p.Gln2804Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549460]|Familial adenomatous polyposis 1 [RCV003649203]|Hereditary cancer-predisposing syndrome [RCV001017723] Chr5:112844005 [GRCh38]
Chr5:112179702 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8498G>T (p.Arg2833Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017911] Chr5:112844092 [GRCh38]
Chr5:112179789 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8510C>G (p.Ser2837Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769505]|Hereditary cancer-predisposing syndrome [RCV001017937] Chr5:112844104 [GRCh38]
Chr5:112179801 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8520G>C (p.Val2840=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017941] Chr5:112844114 [GRCh38]
Chr5:112179811 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8105C>G (p.Ala2702Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769948]|Hereditary cancer-predisposing syndrome [RCV001179717] Chr5:112843699 [GRCh38]
Chr5:112179396 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3555A>C (p.Thr1185=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179719] Chr5:112839149 [GRCh38]
Chr5:112174846 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1831G>A (p.Gly611Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770093]|Hereditary cancer-predisposing syndrome [RCV001187071] Chr5:112835038 [GRCh38]
Chr5:112170735 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3885A>G (p.Glu1295=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183144] Chr5:112839479 [GRCh38]
Chr5:112175176 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1327G>A (p.Glu443Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002558801]|Hereditary cancer-predisposing syndrome [RCV001175971] Chr5:112821910 [GRCh38]
Chr5:112157607 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1583C>T (p.Ala528Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001175978] Chr5:112827963 [GRCh38]
Chr5:112163660 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2217T>A (p.Asp739Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183413] Chr5:112837811 [GRCh38]
Chr5:112173508 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+14_531+17del deletion Hereditary cancer-predisposing syndrome [RCV001176142] Chr5:112775751..112775754 [GRCh38]
Chr5:112111448..112111451 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5776A>G (p.Ile1926Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537492]|Hereditary cancer-predisposing syndrome [RCV001176243] Chr5:112841370 [GRCh38]
Chr5:112177067 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549G>A (p.Ala517Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770048]|Hereditary cancer-predisposing syndrome [RCV001184582] Chr5:112827929 [GRCh38]
Chr5:112163626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7887C>G (p.Thr2629=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002559800]|Hereditary cancer-predisposing syndrome [RCV001182365] Chr5:112843481 [GRCh38]
Chr5:112179178 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1750A>T (p.Thr584Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182401] Chr5:112834957 [GRCh38]
Chr5:112170654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6463G>C (p.Glu2155Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551921]|Hereditary cancer-predisposing syndrome [RCV001025293] Chr5:112842057 [GRCh38]
Chr5:112177754 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1525_1527delinsGAGATGTAGCCTTTGAGATGTTGGC (p.Thr509delinsGluMetTer) indel Hereditary cancer-predisposing syndrome [RCV001012012] Chr5:112827224..112827226 [GRCh38]
Chr5:112162921..112162923 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1529_1530del (p.Phe510fs) deletion Familial adenomatous polyposis 1 [RCV003537391]|Hereditary cancer-predisposing syndrome [RCV001012023] Chr5:112827226..112827227 [GRCh38]
Chr5:112162923..112162924 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1549-3C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003649185]|Hereditary cancer-predisposing syndrome [RCV001012075] Chr5:112827926 [GRCh38]
Chr5:112163623 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6552A>C (p.Glu2184Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537423]|Hereditary cancer-predisposing syndrome [RCV001025405] Chr5:112842146 [GRCh38]
Chr5:112177843 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6555_6559del (p.Ser2185fs) deletion Familial adenomatous polyposis 1 [RCV003336266]|Hereditary cancer-predisposing syndrome [RCV001025407] Chr5:112842145..112842149 [GRCh38]
Chr5:112177842..112177846 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6566A>G (p.Lys2189Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552396]|Familial adenomatous polyposis 1 [RCV003744715]|Hereditary cancer-predisposing syndrome [RCV001025414] Chr5:112842160 [GRCh38]
Chr5:112177857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6574A>G (p.Lys2192Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744716]|Hereditary cancer-predisposing syndrome [RCV001025425] Chr5:112842168 [GRCh38]
Chr5:112177865 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6590G>A (p.Ser2197Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649241]|Hereditary cancer-predisposing syndrome [RCV001025437] Chr5:112842184 [GRCh38]
Chr5:112177881 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6598A>G (p.Thr2200Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025439] Chr5:112842192 [GRCh38]
Chr5:112177889 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6623_6627del (p.Glu2208fs) deletion Hereditary cancer-predisposing syndrome [RCV001025466] Chr5:112842217..112842221 [GRCh38]
Chr5:112177914..112177918 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6642A>G (p.Lys2214=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537424]|Hereditary cancer-predisposing syndrome [RCV001025491] Chr5:112842236 [GRCh38]
Chr5:112177933 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3015C>T (p.Ala1005=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649205]|Hereditary cancer-predisposing syndrome [RCV001018064] Chr5:112838609 [GRCh38]
Chr5:112174306 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.302G>C (p.Gly101Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649206]|Hereditary cancer-predisposing syndrome [RCV001018186] Chr5:112767270 [GRCh38]
Chr5:112102967 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3058G>T (p.Glu1020Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018357] Chr5:112838652 [GRCh38]
Chr5:112174349 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.884G>T (p.Ser295Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649207]|Hereditary cancer-predisposing syndrome [RCV001018410] Chr5:112815544 [GRCh38]
Chr5:112151241 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.81A>G (p.Leu27=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538588]|Hereditary cancer-predisposing syndrome [RCV001187111] Chr5:112754971 [GRCh38]
Chr5:112090668 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.531+11T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179898] Chr5:112775748 [GRCh38]
Chr5:112111445 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7115A>G (p.Gln2372Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179920] Chr5:112842709 [GRCh38]
Chr5:112178406 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3247G>C (p.Asp1083His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176451] Chr5:112838841 [GRCh38]
Chr5:112174538 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4803A>C (p.Leu1601Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744749]|Hereditary cancer-predisposing syndrome [RCV001180169] Chr5:112840397 [GRCh38]
Chr5:112176094 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6676C>T (p.Arg2226Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336314]|Familial adenomatous polyposis 1 [RCV003744750]|Hereditary cancer-predisposing syndrome [RCV001180170] Chr5:112842270 [GRCh38]
Chr5:112177967 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4391A>T (p.Glu1464Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769960]|Hereditary cancer-predisposing syndrome [RCV001180189] Chr5:112839985 [GRCh38]
Chr5:112175682 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2627G>C (p.Arg876Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744751]|Hereditary cancer-predisposing syndrome [RCV001180191] Chr5:112838221 [GRCh38]
Chr5:112173918 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.202T>A (p.Leu68Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563047]|Hereditary cancer-predisposing syndrome [RCV002418774] Chr5:112766392 [GRCh38]
Chr5:112102089 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3842C>G (p.Ser1281Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650775] Chr5:112839436 [GRCh38]
Chr5:112175133 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3468A>C (p.Glu1156Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563666] Chr5:112839062 [GRCh38]
Chr5:112174759 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1576A>T (p.Met526Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650627]|Hereditary cancer-predisposing syndrome [RCV001182633] Chr5:112827956 [GRCh38]
Chr5:112163653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5573G>T (p.Arg1858Leu) single nucleotide variant not provided [RCV001172165] Chr5:112841167 [GRCh38]
Chr5:112176864 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4270C>A (p.Pro1424Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182682] Chr5:112839864 [GRCh38]
Chr5:112175561 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1816A>G (p.Ile606Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003469300]|Hereditary cancer-predisposing syndrome [RCV001182777] Chr5:112835023 [GRCh38]
Chr5:112170720 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.341C>T (p.Pro114Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770011]|Hereditary cancer-predisposing syndrome [RCV001182823] Chr5:112767309 [GRCh38]
Chr5:112103006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6742A>T (p.Lys2248Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337348]|Hereditary cancer-predisposing syndrome [RCV001025603] Chr5:112842336 [GRCh38]
Chr5:112178033 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6773C>T (p.Ser2258Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537428]|Hereditary cancer-predisposing syndrome [RCV001025631] Chr5:112842367 [GRCh38]
Chr5:112178064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6863A>G (p.Gln2288Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025742] Chr5:112842457 [GRCh38]
Chr5:112178154 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.896C>G (p.Ser299Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236122]|Hereditary cancer-predisposing syndrome [RCV001018571] Chr5:112815556 [GRCh38]
Chr5:112151253 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3105G>A (p.Gln1035=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018655] Chr5:112838699 [GRCh38]
Chr5:112174396 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3107T>G (p.Leu1036Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018671] Chr5:112838701 [GRCh38]
Chr5:112174398 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3111C>A (p.Asn1037Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018680] Chr5:112838705 [GRCh38]
Chr5:112174402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4382A>G (p.Glu1461Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187485] Chr5:112839976 [GRCh38]
Chr5:112175673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2657del (p.Gln886fs) deletion Hereditary cancer-predisposing syndrome [RCV001180242] Chr5:112838251 [GRCh38]
Chr5:112173948 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.887G>C (p.Ser296Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003473725]|Familial adenomatous polyposis 1 [RCV003744771]|Hereditary cancer-predisposing syndrome [RCV001187508] Chr5:112815547 [GRCh38]
Chr5:112151244 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3591C>T (p.Phe1197=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180264] Chr5:112839185 [GRCh38]
Chr5:112174882 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1140GGCCAG[3] (p.380RA[3]) microsatellite Familial adenomatous polyposis 1 [RCV003538619]|Hereditary cancer-predisposing syndrome [RCV002451503] Chr5:112819170..112819171 [GRCh38]
Chr5:112154867..112154868 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.72A>T (p.Arg24=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155263] Chr5:112754962 [GRCh38]
Chr5:112090659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1529T>G (p.Phe510Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649385] Chr5:112827228 [GRCh38]
Chr5:112162925 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1171A>T (p.Ile391Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538810]|Hereditary cancer-predisposing syndrome [RCV002255684]|not provided [RCV001585266] Chr5:112819203 [GRCh38]
Chr5:112154900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+261G>T single nucleotide variant not provided [RCV001682565] Chr5:112815854 [GRCh38]
Chr5:112151551 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.5(APC):c.1412dupG duplication Familial adenomatous polyposis 1 [RCV003095118]|Familial adenomatous polyposis 1 [RCV003744037]|Hereditary cancer-predisposing syndrome [RCV002389544] Chr5:112827106..112827107 [GRCh38]
Chr5:112162803..112162804 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6363_6364insTGC (p.Ala2122_Cys2123insCys) insertion not specified [RCV001001356] Chr5:112841957..112841958 [GRCh38]
Chr5:112177654..112177655 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112815478)_(112822001_?)del deletion Familial adenomatous polyposis 1 [RCV001032615]|Familial adenomatous polyposis 1 [RCV001862453] Chr5:112151175..112157698 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3443_3444del (p.Tyr1147_Ser1148insTer) microsatellite Familial adenomatous polyposis 1 [RCV003337353]|Hereditary cancer-predisposing syndrome [RCV003283955] Chr5:112839035..112839036 [GRCh38]
Chr5:112174732..112174733 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4318C>T (p.Pro1440Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537439]|Hereditary cancer-predisposing syndrome [RCV002327244]|not provided [RCV003151827] Chr5:112839912 [GRCh38]
Chr5:112175609 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4843T>C (p.Tyr1615His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023142]|not provided [RCV003229008] Chr5:112840437 [GRCh38]
Chr5:112176134 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5968A>C (p.Thr1990Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649319] Chr5:112841562 [GRCh38]
Chr5:112177259 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2513G>A (p.Arg838Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181397] Chr5:112838107 [GRCh38]
Chr5:112173804 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1091A>G (p.Asp364Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537500]|Hereditary cancer-predisposing syndrome [RCV001181464]|not provided [RCV003142108] Chr5:112819123 [GRCh38]
Chr5:112154820 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4479_5268del (p.Glu1494fs) deletion Familial multiple polyposis syndrome [RCV001532955] Chr5:112840073..112840862 [GRCh38]
Chr5:112175770..112176559 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3781A>G (p.Thr1261Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649311]|not provided [RCV001776104] Chr5:112839375 [GRCh38]
Chr5:112175072 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.774G>T (p.Glu258Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744726] Chr5:112801323 [GRCh38]
Chr5:112137020 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4500T>G (p.Phe1500Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181945] Chr5:112840094 [GRCh38]
Chr5:112175791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4962T>G (p.Ala1654=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023332] Chr5:112840556 [GRCh38]
Chr5:112176253 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5868T>A (p.Ile1956=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650591] Chr5:112841462 [GRCh38]
Chr5:112177159 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3784T>C (p.Tyr1262His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002555906] Chr5:112839378 [GRCh38]
Chr5:112175075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1501G>A (p.Ala501Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649322]|Hereditary cancer-predisposing syndrome [RCV003339444] Chr5:112827200 [GRCh38]
Chr5:112162897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2669T>A (p.Val890Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650593]|Hereditary cancer-predisposing syndrome [RCV002429735] Chr5:112838263 [GRCh38]
Chr5:112173960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5160A>G (p.Glu1720=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023641] Chr5:112840754 [GRCh38]
Chr5:112176451 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1699G>C (p.Gly567Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649266]|Hereditary cancer-predisposing syndrome [RCV002409359] Chr5:112828928 [GRCh38]
Chr5:112164625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7177A>G (p.Arg2393Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551341]|Familial adenomatous polyposis 1 [RCV003537440]|Hereditary cancer-predisposing syndrome [RCV002372746] Chr5:112842771 [GRCh38]
Chr5:112178468 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2373C>T (p.His791=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745345]|Hereditary cancer-predisposing syndrome [RCV003161145]|not provided [RCV001585618] Chr5:112837967 [GRCh38]
Chr5:112173664 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4085C>T (p.Ser1362Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240317]|Hereditary cancer-predisposing syndrome [RCV003160391] Chr5:112839679 [GRCh38]
Chr5:112175376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1276G>A (p.Ala426Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537390]|Hereditary cancer-predisposing syndrome [RCV001010700] Chr5:112819308 [GRCh38]
Chr5:112155005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1283_1293del (p.Glu428fs) deletion Hereditary cancer-predisposing syndrome [RCV001010742] Chr5:112819311..112819321 [GRCh38]
Chr5:112155008..112155018 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.886A>G (p.Ser296Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551346]|Hereditary cancer-predisposing syndrome [RCV002445212] Chr5:112815546 [GRCh38]
Chr5:112151243 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.196A>G (p.Ile66Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649324] Chr5:112766386 [GRCh38]
Chr5:112102083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1102G>A (p.Val368Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537464] Chr5:112819134 [GRCh38]
Chr5:112154831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.442C>T (p.Leu148Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653484]|not provided [RCV001589992] Chr5:112775648 [GRCh38]
Chr5:112111345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2987G>C (p.Ser996Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239382]|Hereditary cancer-predisposing syndrome [RCV002436599] Chr5:112838581 [GRCh38]
Chr5:112174278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+263dup duplication not provided [RCV001645054] Chr5:112801638..112801639 [GRCh38]
Chr5:112137335..112137336 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.2684C>G (p.Ser895Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001580136] Chr5:112838278 [GRCh38]
Chr5:112173975 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5568T>C (p.Phe1856=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024284] Chr5:112841162 [GRCh38]
Chr5:112176859 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.556A>G (p.Arg186Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769592]|Hereditary cancer-predisposing syndrome [RCV001024286] Chr5:112780814 [GRCh38]
Chr5:112116511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.556A>T (p.Arg186Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024287] Chr5:112780814 [GRCh38]
Chr5:112116511 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1308T>G (p.Asn436Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769437]|Hereditary cancer-predisposing syndrome [RCV001010911] Chr5:112819340 [GRCh38]
Chr5:112155037 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5633A>G (p.Lys1878Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024344] Chr5:112841227 [GRCh38]
Chr5:112176924 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5634G>T (p.Lys1878Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024345] Chr5:112841228 [GRCh38]
Chr5:112176925 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5674G>C (p.Ala1892Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024391] Chr5:112841268 [GRCh38]
Chr5:112176965 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-17dup duplication not provided [RCV001528420]|not specified [RCV001573288] Chr5:112775605..112775606 [GRCh38]
Chr5:112111302..112111303 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.934-92G>C single nucleotide variant not provided [RCV001669699] Chr5:112818874 [GRCh38]
Chr5:112154571 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.933+2T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003337345]|Hereditary cancer-predisposing syndrome [RCV001019181] Chr5:112815595 [GRCh38]
Chr5:112151292 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1548+297dup duplication not provided [RCV001670866] Chr5:112827541..112827542 [GRCh38]
Chr5:112163238..112163239 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.4841T>C (p.Val1614Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769572]|Hereditary cancer-predisposing syndrome [RCV001023139] Chr5:112840435 [GRCh38]
Chr5:112176132 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.421A>G (p.Arg141Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649383] Chr5:112767389 [GRCh38]
Chr5:112103086 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3049A>G (p.Asn1017Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553145]|Hereditary cancer-predisposing syndrome [RCV002445247] Chr5:112838643 [GRCh38]
Chr5:112174340 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.(?_112737024)_(112737888_?)dup duplication Familial adenomatous polyposis 1 [RCV001032266]|Familial adenomatous polyposis 1 [RCV001862450] Chr5:112072721..112073585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.113A>C (p.Glu38Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650717]|Hereditary cancer-predisposing syndrome [RCV002451477] Chr5:112755003 [GRCh38]
Chr5:112090700 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6259G>C (p.Asp2087His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002558983]|Familial adenomatous polyposis 1 [RCV003650623]|Hereditary cancer-predisposing syndrome [RCV001180977] Chr5:112841853 [GRCh38]
Chr5:112177550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7594C>G (p.His2532Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744723]|Hereditary cancer-predisposing syndrome [RCV001026597] Chr5:112843188 [GRCh38]
Chr5:112178885 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7668A>G (p.Ser2556=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537434]|Hereditary cancer-predisposing syndrome [RCV001026683] Chr5:112843262 [GRCh38]
Chr5:112178959 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7726G>T (p.Ala2576Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026757] Chr5:112843320 [GRCh38]
Chr5:112179017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7772A>T (p.His2591Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649254]|Hereditary cancer-predisposing syndrome [RCV001026797] Chr5:112843366 [GRCh38]
Chr5:112179063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7876A>G (p.Thr2626Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003117703]|Hereditary cancer-predisposing syndrome [RCV001026897] Chr5:112843470 [GRCh38]
Chr5:112179167 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7877C>G (p.Thr2626Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537435]|Hereditary cancer-predisposing syndrome [RCV001026899] Chr5:112843471 [GRCh38]
Chr5:112179168 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7879T>A (p.Ser2627Thr) single nucleotide variant Carcinoma of colon [RCV001354620]|Familial adenomatous polyposis 1 [RCV003744725]|Hereditary cancer-predisposing syndrome [RCV001026900]|not provided [RCV003153893] Chr5:112843473 [GRCh38]
Chr5:112179170 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2737C>T (p.His913Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561873]|not provided [RCV003142157] Chr5:112838331 [GRCh38]
Chr5:112174028 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2815A>T (p.Lys939Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538621] Chr5:112838409 [GRCh38]
Chr5:112174106 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8512T>C (p.Tyr2838His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650774] Chr5:112844106 [GRCh38]
Chr5:112179803 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6656C>T (p.Ala2219Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650786] Chr5:112842250 [GRCh38]
Chr5:112177947 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8522C>T (p.Thr2841Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV001211784] Chr5:112844116 [GRCh38]
Chr5:112179813 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.151C>G (p.Leu51Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650825] Chr5:112766341 [GRCh38]
Chr5:112102038 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4173_4176dup (p.Leu1393fs) duplication Familial adenomatous polyposis 1 [RCV003652057] Chr5:112839766..112839767 [GRCh38]
Chr5:112175463..112175464 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3706_3723dup (p.Ala1236_Gly1241dup) duplication Familial adenomatous polyposis 1 [RCV002239320] Chr5:112839298..112839299 [GRCh38]
Chr5:112174995..112174996 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2102T>C (p.Met701Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553877]|Familial adenomatous polyposis 1 [RCV003649359] Chr5:112837696 [GRCh38]
Chr5:112173393 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4226C>T (p.Pro1409Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649360] Chr5:112839820 [GRCh38]
Chr5:112175517 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1019C>G (p.Ser340Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744688]|Hereditary cancer-predisposing syndrome [RCV001009695] Chr5:112819051 [GRCh38]
Chr5:112154748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7919_7933del (p.Ser2640_Ile2644del) deletion Familial adenomatous polyposis 1 [RCV003769631]|Hereditary cancer-predisposing syndrome [RCV001026949]|not provided [RCV003233927] Chr5:112843512..112843526 [GRCh38]
Chr5:112179209..112179223 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8032A>T (p.Asn2678Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003768920]|Hereditary cancer-predisposing syndrome [RCV001027092] Chr5:112843626 [GRCh38]
Chr5:112179323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8096A>G (p.Asp2699Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003473607]|Hereditary cancer-predisposing syndrome [RCV001027163] Chr5:112843690 [GRCh38]
Chr5:112179387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8099_8102del (p.Asn2700fs) deletion Hereditary cancer-predisposing syndrome [RCV001027165] Chr5:112843692..112843695 [GRCh38]
Chr5:112179389..112179392 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3866G>A (p.Cys1289Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538623]|Hereditary cancer-predisposing syndrome [RCV002356964] Chr5:112839460 [GRCh38]
Chr5:112175157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6082A>G (p.Ser2028Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650796] Chr5:112841676 [GRCh38]
Chr5:112177373 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5932G>A (p.Glu1978Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650713] Chr5:112841526 [GRCh38]
Chr5:112177223 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1349T>C (p.Val450Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV001235188] Chr5:112821932 [GRCh38]
Chr5:112157629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3329C>A (p.Ser1110Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537455] Chr5:112838923 [GRCh38]
Chr5:112174620 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.(?_112707312)_(112755035_?)del deletion Familial adenomatous polyposis 1 [RCV001032582] Chr5:112043009..112090732 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8398G>C (p.Ala2800Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563734]|Hereditary cancer-predisposing syndrome [RCV002436892] Chr5:112843992 [GRCh38]
Chr5:112179689 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2638A>T (p.Ile880Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652070] Chr5:112838232 [GRCh38]
Chr5:112173929 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4051G>A (p.Ala1351Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538632]|Hereditary cancer-predisposing syndrome [RCV002322133] Chr5:112839645 [GRCh38]
Chr5:112175342 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5908A>G (p.Ser1970Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240726] Chr5:112841502 [GRCh38]
Chr5:112177199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4062T>G (p.Phe1354Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551505] Chr5:112839656 [GRCh38]
Chr5:112175353 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4070G>C (p.Gly1357Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649346] Chr5:112839664 [GRCh38]
Chr5:112175361 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*582C>T single nucleotide variant APC-Associated Polyposis Disorders [RCV001151905] Chr5:112844708 [GRCh38]
Chr5:112180405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7075T>G (p.Ser2359Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650810]|Hereditary cancer-predisposing syndrome [RCV001524709] Chr5:112842669 [GRCh38]
Chr5:112178366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4807C>T (p.Pro1603Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650817] Chr5:112840401 [GRCh38]
Chr5:112176098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3184del (p.Gln1062fs) deletion Familial adenomatous polyposis 1 [RCV003650818] Chr5:112838778 [GRCh38]
Chr5:112174475 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1153dup (p.Ala385fs) duplication Familial adenomatous polyposis 1 [RCV002567879]|Familial adenomatous polyposis 1 [RCV003650824] Chr5:112819184..112819185 [GRCh38]
Chr5:112154881..112154882 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.856C>A (p.His286Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002567922] Chr5:112815516 [GRCh38]
Chr5:112151213 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5043A>G (p.Ser1681=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649221]|Hereditary cancer-predisposing syndrome [RCV001023464] Chr5:112840637 [GRCh38]
Chr5:112176334 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2124G>A (p.Lys708=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769464]|Hereditary cancer-predisposing syndrome [RCV001014533] Chr5:112837718 [GRCh38]
Chr5:112173415 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2131A>G (p.Ile711Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003467620]|Hereditary cancer-predisposing syndrome [RCV001014559] Chr5:112837725 [GRCh38]
Chr5:112173422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2172A>G (p.Ala724=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014669] Chr5:112837766 [GRCh38]
Chr5:112173463 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5799del (p.Gln1935fs) deletion Familial adenomatous polyposis 1 [RCV003649281] Chr5:112841390 [GRCh38]
Chr5:112177087 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1167C>T (p.Asn389=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537389]|Hereditary cancer-predisposing syndrome [RCV001010106] Chr5:112819199 [GRCh38]
Chr5:112154896 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5154A>G (p.Ala1718=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537415]|Hereditary cancer-predisposing syndrome [RCV001023629] Chr5:112840748 [GRCh38]
Chr5:112176445 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7484C>T (p.Thr2495Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652066] Chr5:112843078 [GRCh38]
Chr5:112178775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3544_3548del (p.Lys1182fs) deletion Familial adenomatous polyposis 1 [RCV003537441] Chr5:112839136..112839140 [GRCh38]
Chr5:112174833..112174837 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3320C>T (p.Ala1107Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553302]|Familial adenomatous polyposis 1 [RCV003649334]|Hereditary cancer-predisposing syndrome [RCV001525516] Chr5:112838914 [GRCh38]
Chr5:112174611 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3638C>G (p.Ser1213Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553825]|Familial adenomatous polyposis 1 [RCV003744727] Chr5:112839232 [GRCh38]
Chr5:112174929 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3842C>T (p.Ser1281Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554437] Chr5:112839436 [GRCh38]
Chr5:112175133 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1201A>C (p.Arg401=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010282] Chr5:112819233 [GRCh38]
Chr5:112154930 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4367_4368del (p.Lys1456fs) deletion Hereditary cancer-predisposing syndrome [RCV001181185] Chr5:112839960..112839961 [GRCh38]
Chr5:112175657..112175658 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3503A>T (p.Glu1168Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652074] Chr5:112839097 [GRCh38]
Chr5:112174794 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6493C>G (p.Pro2165Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538633] Chr5:112842087 [GRCh38]
Chr5:112177784 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6715A>G (p.Ser2239Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650657] Chr5:112842309 [GRCh38]
Chr5:112178006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4621C>G (p.Gln1541Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650658] Chr5:112840215 [GRCh38]
Chr5:112175912 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4682A>G (p.Lys1561Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649336] Chr5:112840276 [GRCh38]
Chr5:112175973 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6832G>T (p.Val2278Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649348] Chr5:112842426 [GRCh38]
Chr5:112178123 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5296G>C (p.Asp1766His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769585]|Hereditary cancer-predisposing syndrome [RCV001023880] Chr5:112840890 [GRCh38]
Chr5:112176587 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.695G>T (p.Arg232Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652078] Chr5:112792495 [GRCh38]
Chr5:112128192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5098G>C (p.Ala1700Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652081]|Hereditary cancer-predisposing syndrome [RCV002339661] Chr5:112840692 [GRCh38]
Chr5:112176389 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.326A>G (p.Glu109Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652083] Chr5:112767294 [GRCh38]
Chr5:112102991 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2397T>G (p.Tyr799Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561675] Chr5:112837991 [GRCh38]
Chr5:112173688 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.820T>G (p.Ser274Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650687]|not provided [RCV003238320] Chr5:112801369 [GRCh38]
Chr5:112137066 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.548A>T (p.Asp183Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650688]|Inborn genetic diseases [RCV003259154] Chr5:112780806 [GRCh38]
Chr5:112116503 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4592A>G (p.Asn1531Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650690]|Hereditary cancer-predisposing syndrome [RCV002339541] Chr5:112840186 [GRCh38]
Chr5:112175883 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1006G>C (p.Ala336Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553237] Chr5:112819038 [GRCh38]
Chr5:112154735 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4398del (p.Pro1467fs) deletion Familial adenomatous polyposis 1 [RCV003649269] Chr5:112839992 [GRCh38]
Chr5:112175689 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4826C>G (p.Pro1609Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649270] Chr5:112840420 [GRCh38]
Chr5:112176117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.850A>G (p.Met284Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553322] Chr5:112815510 [GRCh38]
Chr5:112151207 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1301A>T (p.Asp434Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649283]|Hereditary cancer-predisposing syndrome [RCV002379494] Chr5:112819333 [GRCh38]
Chr5:112155030 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4054G>A (p.Val1352Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649350] Chr5:112839648 [GRCh38]
Chr5:112175345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6757C>A (p.Leu2253Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649352]|Hereditary cancer-predisposing syndrome [RCV002365721] Chr5:112842351 [GRCh38]
Chr5:112178048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1010T>C (p.Met337Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240400] Chr5:112819042 [GRCh38]
Chr5:112154739 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5418A>G (p.Ser1806=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024068] Chr5:112841012 [GRCh38]
Chr5:112176709 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1285C>T (p.Pro429Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010758] Chr5:112819317 [GRCh38]
Chr5:112155014 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1286del (p.Pro429fs) deletion Hereditary cancer-predisposing syndrome [RCV001010763] Chr5:112819317 [GRCh38]
Chr5:112155014 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.549T>C (p.Asp183=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537416]|Hereditary cancer-predisposing syndrome [RCV001024181] Chr5:112780807 [GRCh38]
Chr5:112116504 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1206_1207del (p.Glu403fs) deletion Familial multiple polyposis syndrome [RCV001199866] Chr5:112819237..112819238 [GRCh38]
Chr5:112154934..112154935 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6452C>A (p.Thr2151Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553327]|Hereditary cancer-predisposing syndrome [RCV002258109] Chr5:112842046 [GRCh38]
Chr5:112177743 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5544T>C (p.Pro1848=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024255] Chr5:112841138 [GRCh38]
Chr5:112176835 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5559T>C (p.Pro1853=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024272]|not specified [RCV001260370] Chr5:112841153 [GRCh38]
Chr5:112176850 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2793_2796del (p.His931fs) deletion Familial adenomatous polyposis 1 [RCV003337359] Chr5:112838385..112838388 [GRCh38]
Chr5:112174082..112174085 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1717del (p.Met573fs) deletion Familial adenomatous polyposis 1 [RCV003649285] Chr5:112828946 [GRCh38]
Chr5:112164643 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.64A>C (p.Asn22His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239301] Chr5:112754954 [GRCh38]
Chr5:112090651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8117T>G (p.Val2706Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180767] Chr5:112843711 [GRCh38]
Chr5:112179408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-193G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002558969]|Hereditary cancer-predisposing syndrome [RCV001180770] Chr5:112707525 [GRCh38]
Chr5:112043222 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010913] Chr5:112819345 [GRCh38]
Chr5:112155042 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1312A>G (p.Met438Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010914] Chr5:112819344 [GRCh38]
Chr5:112155041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1325T>A (p.Val442Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744690]|Hereditary cancer-predisposing syndrome [RCV001011040] Chr5:112821908 [GRCh38]
Chr5:112157605 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1331A>C (p.His444Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744691]|Hereditary cancer-predisposing syndrome [RCV001011078] Chr5:112821914 [GRCh38]
Chr5:112157611 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5796T>C (p.Thr1932=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024536] Chr5:112841390 [GRCh38]
Chr5:112177087 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1371A>G (p.Ser457=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011189] Chr5:112821954 [GRCh38]
Chr5:112157651 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5861T>G (p.Phe1954Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769597]|Hereditary cancer-predisposing syndrome [RCV001024617] Chr5:112841455 [GRCh38]
Chr5:112177152 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2128C>G (p.Leu710Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652099] Chr5:112837722 [GRCh38]
Chr5:112173419 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.581G>C (p.Arg194Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652100] Chr5:112780839 [GRCh38]
Chr5:112116536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1540_1548+3del deletion Familial adenomatous polyposis 1 [RCV002241557] Chr5:112827236..112827247 [GRCh38]
Chr5:112162933..112162944 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.55G>T (p.Glu19Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652104] Chr5:112754945 [GRCh38]
Chr5:112090642 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4033G>A (p.Glu1345Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652108] Chr5:112839627 [GRCh38]
Chr5:112175324 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1582G>A (p.Ala528Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537501]|Hereditary cancer-predisposing syndrome [RCV001181498] Chr5:112827962 [GRCh38]
Chr5:112163659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8156A>C (p.Glu2719Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181667] Chr5:112843750 [GRCh38]
Chr5:112179447 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8184G>A (p.Val2728=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650625]|Hereditary cancer-predisposing syndrome [RCV001182124] Chr5:112843778 [GRCh38]
Chr5:112179475 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1201A>G (p.Arg401Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182158] Chr5:112819233 [GRCh38]
Chr5:112154930 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3056G>T (p.Gly1019Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649314] Chr5:112838650 [GRCh38]
Chr5:112174347 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7998T>G (p.Ile2666Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551460]|Familial adenomatous polyposis 1 [RCV003537446]|Hereditary cancer-predisposing syndrome [RCV002416343]|not provided [RCV001759738] Chr5:112843592 [GRCh38]
Chr5:112179289 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5101C>T (p.Gln1701Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649354]|Familial multiple polyposis syndrome [RCV003336297] Chr5:112840695 [GRCh38]
Chr5:112176392 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1389A>G (p.Arg463=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011324] Chr5:112821972 [GRCh38]
Chr5:112157669 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.138A>G (p.Glu46=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551742]|Hereditary cancer-predisposing syndrome [RCV001011330] Chr5:112766328 [GRCh38]
Chr5:112102025 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5959A>G (p.Ile1987Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537418]|Hereditary cancer-predisposing syndrome [RCV001024720] Chr5:112841553 [GRCh38]
Chr5:112177250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5975C>T (p.Pro1992Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537419]|Hereditary cancer-predisposing syndrome [RCV001024737] Chr5:112841569 [GRCh38]
Chr5:112177266 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6001A>G (p.Lys2001Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024793]|not specified [RCV001264459] Chr5:112841595 [GRCh38]
Chr5:112177292 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1419G>C (p.Gln473His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011445] Chr5:112827118 [GRCh38]
Chr5:112162815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6041T>C (p.Val2014Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024836] Chr5:112841635 [GRCh38]
Chr5:112177332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6054A>T (p.Pro2018=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649235]|Hereditary cancer-predisposing syndrome [RCV001024841] Chr5:112841648 [GRCh38]
Chr5:112177345 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6079C>G (p.Leu2027Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744713]|Hereditary cancer-predisposing syndrome [RCV001024866] Chr5:112841673 [GRCh38]
Chr5:112177370 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1423A>G (p.Ile475Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744693]|Hereditary cancer-predisposing syndrome [RCV001011518] Chr5:112827122 [GRCh38]
Chr5:112162819 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2008A>G (p.Lys670Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652112] Chr5:112837602 [GRCh38]
Chr5:112173299 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8101C>A (p.Gln2701Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180670] Chr5:112843695 [GRCh38]
Chr5:112179392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8206A>G (p.Thr2736Ala) single nucleotide variant APC-related condition [RCV003396794]|Familial adenomatous polyposis 1 [RCV002560819]|Familial adenomatous polyposis 1 [RCV003537502]|Hereditary cancer-predisposing syndrome [RCV001182298]|not specified [RCV002249766] Chr5:112843800 [GRCh38]
Chr5:112179497 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5293T>G (p.Leu1765Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553272]|Hereditary cancer-predisposing syndrome [RCV001179013] Chr5:112840887 [GRCh38]
Chr5:112176584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1439A>C (p.Gln480Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744694]|Hereditary cancer-predisposing syndrome [RCV001011575] Chr5:112827138 [GRCh38]
Chr5:112162835 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6150G>C (p.Lys2050Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024949] Chr5:112841744 [GRCh38]
Chr5:112177441 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6155A>C (p.Lys2052Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649236]|Hereditary cancer-predisposing syndrome [RCV001024952] Chr5:112841749 [GRCh38]
Chr5:112177446 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1457A>G (p.Tyr486Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011672] Chr5:112827156 [GRCh38]
Chr5:112162853 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6269A>G (p.His2090Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537420]|Hereditary cancer-predisposing syndrome [RCV001025056]|not provided [RCV001776085] Chr5:112841863 [GRCh38]
Chr5:112177560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1475A>G (p.His492Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551749]|Hereditary cancer-predisposing syndrome [RCV001011744] Chr5:112827174 [GRCh38]
Chr5:112162871 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6291A>C (p.Glu2097Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537421]|Hereditary cancer-predisposing syndrome [RCV001025093] Chr5:112841885 [GRCh38]
Chr5:112177582 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1482T>C (p.Ser494=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011816] Chr5:112827181 [GRCh38]
Chr5:112162878 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6366A>G (p.Ala2122=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025182] Chr5:112841960 [GRCh38]
Chr5:112177657 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6376A>G (p.Arg2126Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649237]|Hereditary cancer-predisposing syndrome [RCV001025192] Chr5:112841970 [GRCh38]
Chr5:112177667 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6394T>C (p.Ser2132Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769605]|Hereditary cancer-predisposing syndrome [RCV001025215] Chr5:112841988 [GRCh38]
Chr5:112177685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2654C>T (p.Ala885Val) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157043]|Familial adenomatous polyposis 1 [RCV003462639] Chr5:112838248 [GRCh38]
Chr5:112173945 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.219del (p.Glu74fs) deletion Familial adenomatous polyposis 1 [RCV003337361]|not provided [RCV001800975] Chr5:112766407 [GRCh38]
Chr5:112102104 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6755C>T (p.Pro2252Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551395]|Hereditary cancer-predisposing syndrome [RCV002363558] Chr5:112842349 [GRCh38]
Chr5:112178046 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3633G>A (p.Met1211Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649275] Chr5:112839227 [GRCh38]
Chr5:112174924 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5176G>A (p.Glu1726Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649276]|Hereditary cancer-predisposing syndrome [RCV002337100] Chr5:112840770 [GRCh38]
Chr5:112176467 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3449A>T (p.Glu1150Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649277]|Hereditary cancer-predisposing syndrome [RCV002454273] Chr5:112839043 [GRCh38]
Chr5:112174740 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5979del (p.Asp1994fs) deletion Familial adenomatous polyposis 1 [RCV002239307] Chr5:112841573 [GRCh38]
Chr5:112177270 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2331C>G (p.Asp777Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649287] Chr5:112837925 [GRCh38]
Chr5:112173622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-10T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003649355] Chr5:112792436 [GRCh38]
Chr5:112128133 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4813G>C (p.Val1605Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553380]|not specified [RCV001797817] Chr5:112840407 [GRCh38]
Chr5:112176104 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6426C>G (p.Ile2142Met) single nucleotide variant APC-related condition [RCV003393787]|Familial adenomatous polyposis 1 [RCV003769607]|Hereditary cancer-predisposing syndrome [RCV001025252] Chr5:112842020 [GRCh38]
Chr5:112177717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1524G>T (p.Leu508Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769450]|Hereditary cancer-predisposing syndrome [RCV001012009] Chr5:112827223 [GRCh38]
Chr5:112162920 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6482G>A (p.Ser2161Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649238]|Hereditary cancer-predisposing syndrome [RCV001025317] Chr5:112842076 [GRCh38]
Chr5:112177773 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1556T>C (p.Leu519Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012101] Chr5:112827936 [GRCh38]
Chr5:112163633 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8454C>T (p.Ser2818=) single nucleotide variant APC-Associated Polyposis Disorders [RCV001157357]|Familial adenomatous polyposis 1 [RCV003769754]|Hereditary cancer-predisposing syndrome [RCV002445400] Chr5:112844048 [GRCh38]
Chr5:112179745 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.*275A>G single nucleotide variant APC-Associated Polyposis Disorders [RCV001157358] Chr5:112844401 [GRCh38]
Chr5:112180098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3515A>T (p.His1172Leu) single nucleotide variant Desmoid disease, hereditary [RCV002480716]|Familial adenomatous polyposis 1 [RCV003770253]|Hereditary cancer-predisposing syndrome [RCV002451486] Chr5:112839109 [GRCh38]
Chr5:112174806 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7289A>G (p.Asp2430Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652109] Chr5:112842883 [GRCh38]
Chr5:112178580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7327T>C (p.Phe2443Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652111] Chr5:112842921 [GRCh38]
Chr5:112178618 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5586G>C (p.Leu1862Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552639]|Hereditary cancer-predisposing syndrome [RCV001524602] Chr5:112841180 [GRCh38]
Chr5:112176877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7910G>C (p.Gly2637Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553785]|Hereditary cancer-predisposing syndrome [RCV002416405] Chr5:112843504 [GRCh38]
Chr5:112179201 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2394_2395insG (p.Tyr799fs) insertion Familial adenomatous polyposis 1 [RCV003649356] Chr5:112837988..112837989 [GRCh38]
Chr5:112173685..112173686 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2306_2307delinsC (p.Leu769fs) indel Familial adenomatous polyposis 1 [RCV003652106]|Hereditary cancer-predisposing syndrome [RCV002447220] Chr5:112837900..112837901 [GRCh38]
Chr5:112173597..112173598 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2354A>G (p.His785Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652107]|Hereditary cancer-predisposing syndrome [RCV003284124]|not provided [RCV001284236] Chr5:112837948 [GRCh38]
Chr5:112173645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3044A>G (p.Asp1015Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652102] Chr5:112838638 [GRCh38]
Chr5:112174335 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5300G>C (p.Gly1767Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650670]|Hereditary cancer-predisposing syndrome [RCV002348668] Chr5:112840894 [GRCh38]
Chr5:112176591 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6721T>A (p.Ser2241Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025577] Chr5:112842315 [GRCh38]
Chr5:112178012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6723A>G (p.Ser2241=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537425]|Hereditary cancer-predisposing syndrome [RCV001025578] Chr5:112842317 [GRCh38]
Chr5:112178014 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.672C>G (p.Ile224Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537426]|Hereditary cancer-predisposing syndrome [RCV001025583] Chr5:112792472 [GRCh38]
Chr5:112128169 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6740C>T (p.Ser2247Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025601] Chr5:112842334 [GRCh38]
Chr5:112178031 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6742A>C (p.Lys2248Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744718]|Hereditary cancer-predisposing syndrome [RCV001025602] Chr5:112842336 [GRCh38]
Chr5:112178033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.674A>G (p.Glu225Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537427]|Hereditary cancer-predisposing syndrome [RCV001025609] Chr5:112792474 [GRCh38]
Chr5:112128171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6849C>A (p.Ser2283Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769611]|Hereditary cancer-predisposing syndrome [RCV001025724] Chr5:112842443 [GRCh38]
Chr5:112178140 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6972_6983del (p.Gly2325_Ser2328del) deletion Hereditary cancer-predisposing syndrome [RCV001025863] Chr5:112842565..112842576 [GRCh38]
Chr5:112178262..112178273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1668T>C (p.Asp556=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649186]|Hereditary cancer-predisposing syndrome [RCV001012632] Chr5:112828897 [GRCh38]
Chr5:112164594 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1742A>C (p.Lys581Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561893] Chr5:112828971 [GRCh38]
Chr5:112164668 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2839T>C (p.Cys947Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562473] Chr5:112838433 [GRCh38]
Chr5:112174130 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7670C>A (p.Ser2557Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650735]|Hereditary cancer-predisposing syndrome [RCV002402657] Chr5:112843264 [GRCh38]
Chr5:112178961 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5236_5541del (p.Ile1746_Thr1847del) deletion Familial adenomatous polyposis 1 [RCV003650736] Chr5:112840829..112841134 [GRCh38]
Chr5:112176526..112176831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5261C>G (p.Ser1754Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241284] Chr5:112840855 [GRCh38]
Chr5:112176552 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5878C>G (p.Pro1960Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650745] Chr5:112841472 [GRCh38]
Chr5:112177169 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8435del (p.Asn2812fs) deletion Familial adenomatous polyposis 1 [RCV003650676]|Hereditary cancer-predisposing syndrome [RCV002411761] Chr5:112844028 [GRCh38]
Chr5:112179725 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.547G>C (p.Asp183His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650677]|Hereditary cancer-predisposing syndrome [RCV002348677] Chr5:112780805 [GRCh38]
Chr5:112116502 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2239T>C (p.Ser747Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561243] Chr5:112837833 [GRCh38]
Chr5:112173530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.226A>C (p.Asn76His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650678]|Hereditary cancer-predisposing syndrome [RCV003284046] Chr5:112767194 [GRCh38]
Chr5:112102891 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6454C>A (p.Pro2152Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744787]|not provided [RCV003129743] Chr5:112842048 [GRCh38]
Chr5:112177745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2387A>G (p.Tyr796Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552643]|Hereditary cancer-predisposing syndrome [RCV001190793] Chr5:112837981 [GRCh38]
Chr5:112173678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3190G>A (p.Glu1064Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770241] Chr5:112838784 [GRCh38]
Chr5:112174481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6418T>C (p.Ser2140Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241647] Chr5:112842012 [GRCh38]
Chr5:112177709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1335G>T (p.Gln445His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561225]|Hereditary cancer-predisposing syndrome [RCV003584845] Chr5:112821918 [GRCh38]
Chr5:112157615 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7038A>T (p.Pro2346=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025955]|not specified [RCV001264544] Chr5:112842632 [GRCh38]
Chr5:112178329 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1703G>T (p.Ser568Ile) single nucleotide variant Colorectal cancer [RCV001197871]|Hereditary cancer-predisposing syndrome [RCV001012747] Chr5:112828932 [GRCh38]
Chr5:112164629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1692A>C (p.Arg564=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537392]|Hereditary cancer-predisposing syndrome [RCV001012769]|not provided [RCV003478616] Chr5:112828921 [GRCh38]
Chr5:112164618 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1703G>A (p.Ser568Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550779]|Familial adenomatous polyposis 1 [RCV003649187]|Hereditary cancer-predisposing syndrome [RCV001012786]|not specified [RCV003320781] Chr5:112828932 [GRCh38]
Chr5:112164629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7114C>T (p.Gln2372Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551948]|Familial adenomatous polyposis 1 [RCV003336271]|Hereditary cancer-predisposing syndrome [RCV001026057] Chr5:112842708 [GRCh38]
Chr5:112178405 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7169G>A (p.Ser2390Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537429]|Hereditary cancer-predisposing syndrome [RCV001026107] Chr5:112842763 [GRCh38]
Chr5:112178460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1733A>G (p.Glu578Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012896] Chr5:112828962 [GRCh38]
Chr5:112164659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7196A>G (p.Lys2399Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649246]|Hereditary cancer-predisposing syndrome [RCV001026136] Chr5:112842790 [GRCh38]
Chr5:112178487 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.173A>G (p.Glu58Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012936] Chr5:112766363 [GRCh38]
Chr5:112102060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6803C>T (p.Thr2268Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652103] Chr5:112842397 [GRCh38]
Chr5:112178094 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.772G>A (p.Glu258Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538605]|Hereditary cancer-predisposing syndrome [RCV001524000] Chr5:112801321 [GRCh38]
Chr5:112137018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8044G>T (p.Val2682Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650668] Chr5:112843638 [GRCh38]
Chr5:112179335 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5333C>T (p.Pro1778Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650757]|Hereditary cancer-predisposing syndrome [RCV002348743] Chr5:112840927 [GRCh38]
Chr5:112176624 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5341C>G (p.Gln1781Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650767] Chr5:112840935 [GRCh38]
Chr5:112176632 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.880T>G (p.Ser294Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650680] Chr5:112815540 [GRCh38]
Chr5:112151237 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+4A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002562358]|Hereditary cancer-predisposing syndrome [RCV002365945] Chr5:112780907 [GRCh38]
Chr5:112116604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4531C>T (p.Leu1511Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650689]|Hereditary cancer-predisposing syndrome [RCV002339540] Chr5:112840125 [GRCh38]
Chr5:112175822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2528G>A (p.Ser843Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650694]|Hereditary cancer-predisposing syndrome [RCV002429895] Chr5:112838122 [GRCh38]
Chr5:112173819 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7829G>C (p.Gly2610Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650807] Chr5:112843423 [GRCh38]
Chr5:112179120 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3938C>T (p.Thr1313Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650814]|Hereditary cancer-predisposing syndrome [RCV002356997] Chr5:112839532 [GRCh38]
Chr5:112175229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1268G>A (p.Trp423Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336295]|Hereditary cancer-predisposing syndrome [RCV002374927]|not provided [RCV003106107] Chr5:112819300 [GRCh38]
Chr5:112154997 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1747T>C (p.Ser583Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012969] Chr5:112834954 [GRCh38]
Chr5:112170651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1766T>C (p.Leu589Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013037] Chr5:112834973 [GRCh38]
Chr5:112170670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7346G>C (p.Ser2449Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026302] Chr5:112842940 [GRCh38]
Chr5:112178637 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.739C>T (p.Gln247Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537430]|Hereditary cancer-predisposing syndrome [RCV001026383] Chr5:112801288 [GRCh38]
Chr5:112136985 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7424C>G (p.Thr2475Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537432]|Hereditary cancer-predisposing syndrome [RCV001026421] Chr5:112843018 [GRCh38]
Chr5:112178715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7431C>G (p.Ser2477=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026429] Chr5:112843025 [GRCh38]
Chr5:112178722 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.744C>T (p.Asn248=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537433]|Hereditary cancer-predisposing syndrome [RCV001026448] Chr5:112801293 [GRCh38]
Chr5:112136990 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7458T>C (p.Pro2486=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026458] Chr5:112843052 [GRCh38]
Chr5:112178749 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7461C>G (p.Ser2487=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769623]|Hereditary cancer-predisposing syndrome [RCV001026466]|not specified [RCV002268412] Chr5:112843055 [GRCh38]
Chr5:112178752 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.750_751dup (p.Glu251fs) duplication Hereditary cancer-predisposing syndrome [RCV001026509] Chr5:112801298..112801299 [GRCh38]
Chr5:112136995..112136996 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7509A>G (p.Gly2503=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649251]|Hereditary cancer-predisposing syndrome [RCV001026511] Chr5:112843103 [GRCh38]
Chr5:112178800 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1835C>T (p.Ala612Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003461331]|Hereditary cancer-predisposing syndrome [RCV001013330] Chr5:112835042 [GRCh38]
Chr5:112170739 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5834del (p.Ala1945fs) deletion APC-related condition [RCV003405401]|Familial adenomatous polyposis 1 [RCV002562420]|Familial adenomatous polyposis 1 [RCV003650721] Chr5:112841428 [GRCh38]
Chr5:112177125 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6671T>C (p.Ile2224Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562981]|Familial adenomatous polyposis 1 [RCV003538616]|Hereditary cancer-predisposing syndrome [RCV001524005] Chr5:112842265 [GRCh38]
Chr5:112177962 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6982T>A (p.Ser2328Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562445] Chr5:112842576 [GRCh38]
Chr5:112178273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8171C>T (p.Ser2724Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650732] Chr5:112843765 [GRCh38]
Chr5:112179462 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2237G>A (p.Gly746Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650734] Chr5:112837831 [GRCh38]
Chr5:112173528 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1764A>T (p.Val588=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649188]|Hereditary cancer-predisposing syndrome [RCV001013076] Chr5:112834971 [GRCh38]
Chr5:112170668 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7370A>C (p.Glu2457Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769621]|Hereditary cancer-predisposing syndrome [RCV001026339] Chr5:112842964 [GRCh38]
Chr5:112178661 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7395_7398del (p.Ser2466fs) deletion Familial adenomatous polyposis 1 [RCV003336273]|Hereditary cancer-predisposing syndrome [RCV001026374] Chr5:112842986..112842989 [GRCh38]
Chr5:112178683..112178686 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.178A>C (p.Met60Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013156] Chr5:112766368 [GRCh38]
Chr5:112102065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7414G>A (p.Ala2472Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537431]|Hereditary cancer-predisposing syndrome [RCV001026407] Chr5:112843008 [GRCh38]
Chr5:112178705 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7425T>A (p.Thr2475=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649248]|Hereditary cancer-predisposing syndrome [RCV001026422] Chr5:112843019 [GRCh38]
Chr5:112178716 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7474T>C (p.Ser2492Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649250]|Hereditary cancer-predisposing syndrome [RCV001026479] Chr5:112843068 [GRCh38]
Chr5:112178765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1821delinsGTGCTTTAAAAAA (p.Cys607delinsTrpCysPheLysLys) indel Hereditary cancer-predisposing syndrome [RCV001013265] Chr5:112835028 [GRCh38]
Chr5:112170725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7521C>G (p.Leu2507=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769624]|Hereditary cancer-predisposing syndrome [RCV001026526] Chr5:112843115 [GRCh38]
Chr5:112178812 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.181G>C (p.Ala61Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769456]|Hereditary cancer-predisposing syndrome [RCV001013304] Chr5:112766371 [GRCh38]
Chr5:112102068 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1839T>C (p.Leu613=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744696]|Hereditary cancer-predisposing syndrome [RCV001013314] Chr5:112835046 [GRCh38]
Chr5:112170743 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7582_7583del (p.Ile2528fs) microsatellite Hereditary cancer-predisposing syndrome [RCV001026590] Chr5:112843174..112843175 [GRCh38]
Chr5:112178871..112178872 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7593T>G (p.Ser2531=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649252]|Hereditary cancer-predisposing syndrome [RCV001026595] Chr5:112843187 [GRCh38]
Chr5:112178884 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7595A>G (p.His2532Arg) single nucleotide variant APC-related condition [RCV003393789]|Familial adenomatous polyposis 1 [RCV003467690]|Hereditary cancer-predisposing syndrome [RCV001026598] Chr5:112843189 [GRCh38]
Chr5:112178886 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7602A>G (p.Glu2534=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769626]|Hereditary cancer-predisposing syndrome [RCV001026614] Chr5:112843196 [GRCh38]
Chr5:112178893 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6204G>C (p.Met2068Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563073] Chr5:112841798 [GRCh38]
Chr5:112177495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7749A>C (p.Lys2583Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650782] Chr5:112843343 [GRCh38]
Chr5:112179040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4919G>T (p.Arg1640Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769575]|Hereditary cancer-predisposing syndrome [RCV001023259] Chr5:112840513 [GRCh38]
Chr5:112176210 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4920G>T (p.Arg1640=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023268] Chr5:112840514 [GRCh38]
Chr5:112176211 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7292G>C (p.Arg2431Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649284] Chr5:112842886 [GRCh38]
Chr5:112178583 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.88A>G (p.Asn30Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649339] Chr5:112754978 [GRCh38]
Chr5:112090675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2021T>C (p.Leu674Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650748] Chr5:112837615 [GRCh38]
Chr5:112173312 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4466T>G (p.Leu1489Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336346]|Familial adenomatous polyposis 1 [RCV003650752] Chr5:112840060 [GRCh38]
Chr5:112175757 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5065dup (p.Thr1689fs) duplication Familial adenomatous polyposis 1 [RCV003650753] Chr5:112840658..112840659 [GRCh38]
Chr5:112176355..112176356 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4609dup (p.Thr1537fs) duplication Familial adenomatous polyposis 1 [RCV003649370] Chr5:112840200..112840201 [GRCh38]
Chr5:112175897..112175898 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.951A>C (p.Ser317=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019437] Chr5:112818983 [GRCh38]
Chr5:112154680 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4838C>T (p.Pro1613Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023132] Chr5:112840432 [GRCh38]
Chr5:112176129 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7646G>A (p.Arg2549His) single nucleotide variant Familial adenomatous polyposis 1 [RCV001043541]|Hereditary cancer-predisposing syndrome [RCV001026660] Chr5:112843240 [GRCh38]
Chr5:112178937 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7646G>T (p.Arg2549Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026661] Chr5:112843240 [GRCh38]
Chr5:112178937 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7670C>T (p.Ser2557Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769629]|Hereditary cancer-predisposing syndrome [RCV001026689] Chr5:112843264 [GRCh38]
Chr5:112178961 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.767A>G (p.Asp256Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236300]|Familial adenomatous polyposis 1 [RCV003473605]|Hereditary cancer-predisposing syndrome [RCV001026704] Chr5:112801316 [GRCh38]
Chr5:112137013 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7745A>G (p.Glu2582Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026779] Chr5:112843339 [GRCh38]
Chr5:112179036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7748A>G (p.Lys2583Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744724]|Hereditary cancer-predisposing syndrome [RCV001026781] Chr5:112843342 [GRCh38]
Chr5:112179039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7867A>T (p.Thr2623Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026888] Chr5:112843461 [GRCh38]
Chr5:112179158 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7901C>A (p.Ala2634Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537436]|Hereditary cancer-predisposing syndrome [RCV001026935] Chr5:112843495 [GRCh38]
Chr5:112179192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4293G>A (p.Met1431Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650815] Chr5:112839887 [GRCh38]
Chr5:112175584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2626C>G (p.Arg876Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538630] Chr5:112838220 [GRCh38]
Chr5:112173917 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5265_5268delinsTGCG (p.Ser1756Ala) indel Familial adenomatous polyposis 1 [RCV003650594] Chr5:112840859..112840862 [GRCh38]
Chr5:112176556..112176559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1135G>A (p.Ala379Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649177]|Hereditary cancer-predisposing syndrome [RCV001009973] Chr5:112819167 [GRCh38]
Chr5:112154864 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2231C>T (p.Ser744Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537453]|Hereditary cancer-predisposing syndrome [RCV002429659] Chr5:112837825 [GRCh38]
Chr5:112173522 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5981A>G (p.Asp1994Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562561]|Hereditary cancer-predisposing syndrome [RCV001524711] Chr5:112841575 [GRCh38]
Chr5:112177272 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5142T>A (p.Asp1714Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650761] Chr5:112840736 [GRCh38]
Chr5:112176433 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7465C>G (p.Pro2489Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650762]|Hereditary cancer-predisposing syndrome [RCV002393542] Chr5:112843059 [GRCh38]
Chr5:112178756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7354T>G (p.Leu2452Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650758] Chr5:112842948 [GRCh38]
Chr5:112178645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.966dup (p.Gly323fs) duplication Familial adenomatous polyposis 1 [RCV003650766] Chr5:112818996..112818997 [GRCh38]
Chr5:112154693..112154694 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6023C>G (p.Ala2008Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181675] Chr5:112841617 [GRCh38]
Chr5:112177314 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+17A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744756]|Hereditary cancer-predisposing syndrome [RCV001181805] Chr5:112815610 [GRCh38]
Chr5:112151307 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.530del (p.Asn177fs) deletion Familial adenomatous polyposis 1 [RCV002240509]|Familial adenomatous polyposis 1 [RCV003336303] Chr5:112775733 [GRCh38]
Chr5:112111430 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7969G>A (p.Val2657Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649256]|Hereditary cancer-predisposing syndrome [RCV001027010] Chr5:112843563 [GRCh38]
Chr5:112179260 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1946del (p.Asn649fs) deletion Hereditary cancer-predisposing syndrome [RCV001013804] Chr5:112835151 [GRCh38]
Chr5:112170848 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1975AAC[1] (p.Asn660del) microsatellite Hereditary cancer-predisposing syndrome [RCV001013936] Chr5:112837569..112837571 [GRCh38]
Chr5:112173266..112173268 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.818C>G (p.Thr273Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003473608]|Hereditary cancer-predisposing syndrome [RCV001027256] Chr5:112801367 [GRCh38]
Chr5:112137064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8203G>A (p.Gly2735Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537437]|Hereditary cancer-predisposing syndrome [RCV001027276]|not provided [RCV002469326]|not specified [RCV003493784] Chr5:112843797 [GRCh38]
Chr5:112179494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5432C>G (p.Ser1811Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002567894]|Familial adenomatous polyposis 1 [RCV003652059] Chr5:112841026 [GRCh38]
Chr5:112176723 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4700C>G (p.Ser1567Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538631]|Hereditary cancer-predisposing syndrome [RCV002339645] Chr5:112840294 [GRCh38]
Chr5:112175991 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5074A>G (p.Thr1692Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649223]|Hereditary cancer-predisposing syndrome [RCV001023498] Chr5:112840668 [GRCh38]
Chr5:112176365 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1182G>T (p.Gln394His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003230276]|Familial adenomatous polyposis 1 [RCV003537388]|Hereditary cancer-predisposing syndrome [RCV001010077]|not provided [RCV003442141] Chr5:112819214 [GRCh38]
Chr5:112154911 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6701C>T (p.Pro2234Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650770] Chr5:112842295 [GRCh38]
Chr5:112177992 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3769G>T (p.Glu1257Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537407]|Hereditary cancer-predisposing syndrome [RCV001021087] Chr5:112839363 [GRCh38]
Chr5:112175060 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4920G>C (p.Arg1640=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023267] Chr5:112840514 [GRCh38]
Chr5:112176211 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8223A>G (p.Gly2741=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649257]|Hereditary cancer-predisposing syndrome [RCV001027301] Chr5:112843817 [GRCh38]
Chr5:112179514 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8256T>C (p.Asn2752=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649258]|Hereditary cancer-predisposing syndrome [RCV001027326] Chr5:112843850 [GRCh38]
Chr5:112179547 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8276G>T (p.Arg2759Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537438]|Hereditary cancer-predisposing syndrome [RCV001027353] Chr5:112843870 [GRCh38]
Chr5:112179567 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8280C>G (p.Thr2760=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649259]|Hereditary cancer-predisposing syndrome [RCV001027364] Chr5:112843874 [GRCh38]
Chr5:112179571 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.*1127C>A single nucleotide variant APC-Associated Polyposis Disorders [RCV001153162] Chr5:112845253 [GRCh38]
Chr5:112180950 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2177del (p.Ala725_Leu726insTer) deletion Familial adenomatous polyposis 1 [RCV003652063] Chr5:112837769 [GRCh38]
Chr5:112173466 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5157G>C (p.Glu1719Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652065]|Hereditary cancer-predisposing syndrome [RCV002339651] Chr5:112840751 [GRCh38]
Chr5:112176448 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1189G>A (p.Asp397Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010232] Chr5:112819221 [GRCh38]
Chr5:112154918 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5180G>C (p.Cys1727Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023677] Chr5:112840774 [GRCh38]
Chr5:112176471 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5214C>A (p.His1738Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769584]|Hereditary cancer-predisposing syndrome [RCV001023742] Chr5:112840808 [GRCh38]
Chr5:112176505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2513G>C (p.Arg838Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650771] Chr5:112838107 [GRCh38]
Chr5:112173804 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1083T>A (p.His361Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650772] Chr5:112819115 [GRCh38]
Chr5:112154812 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5822C>T (p.Pro1941Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744758]|Hereditary cancer-predisposing syndrome [RCV001182799] Chr5:112841416 [GRCh38]
Chr5:112177113 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+15G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182817] Chr5:112819359 [GRCh38]
Chr5:112155056 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2772A>T (p.Arg924Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182862] Chr5:112838366 [GRCh38]
Chr5:112174063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5810C>A (p.Ser1937Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182888] Chr5:112841404 [GRCh38]
Chr5:112177101 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+14C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003769863]|Hereditary cancer-predisposing syndrome [RCV001175713] Chr5:112792543 [GRCh38]
Chr5:112128240 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5996C>A (p.Pro1999Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649371]|Hereditary cancer-predisposing syndrome [RCV003160532] Chr5:112841590 [GRCh38]
Chr5:112177287 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.135G>A (p.Lys45=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554467] Chr5:112755025 [GRCh38]
Chr5:112090722 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4054_4063dup (p.Ser1355delinsCysTer) duplication Hereditary cancer-predisposing syndrome [RCV001021758] Chr5:112839646..112839647 [GRCh38]
Chr5:112175343..112175344 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4065T>C (p.Ser1355=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769550]|Hereditary cancer-predisposing syndrome [RCV001021791] Chr5:112839659 [GRCh38]
Chr5:112175356 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3539G>A (p.Ser1180Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020554] Chr5:112839133 [GRCh38]
Chr5:112174830 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5055A>T (p.Glu1685Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649222]|Hereditary cancer-predisposing syndrome [RCV001023483] Chr5:112840649 [GRCh38]
Chr5:112176346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2100C>T (p.Asp700=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649189]|Hereditary cancer-predisposing syndrome [RCV001014441] Chr5:112837694 [GRCh38]
Chr5:112173391 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2156C>T (p.Ala719Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014615] Chr5:112837750 [GRCh38]
Chr5:112173447 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.580A>G (p.Arg194Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652076] Chr5:112780838 [GRCh38]
Chr5:112116535 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8356T>G (p.Tyr2786Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650777] Chr5:112843950 [GRCh38]
Chr5:112179647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1607A>C (p.Glu536Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650779] Chr5:112827987 [GRCh38]
Chr5:112163684 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6776A>C (p.Lys2259Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652110]|Hereditary cancer-predisposing syndrome [RCV003294156] Chr5:112842370 [GRCh38]
Chr5:112178067 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7275T>G (p.Ser2425Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650673] Chr5:112842869 [GRCh38]
Chr5:112178566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.447C>G (p.Asp149Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650675] Chr5:112775653 [GRCh38]
Chr5:112111350 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7330A>C (p.Ile2444Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001175992] Chr5:112842924 [GRCh38]
Chr5:112178621 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6755C>A (p.Pro2252His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650629]|Hereditary cancer-predisposing syndrome [RCV001183343] Chr5:112842349 [GRCh38]
Chr5:112178046 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-13T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176056] Chr5:112821883 [GRCh38]
Chr5:112157580 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3169G>A (p.Glu1057Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183415] Chr5:112838763 [GRCh38]
Chr5:112174460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3172G>A (p.Asp1058Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002559838]|Hereditary cancer-predisposing syndrome [RCV001183416] Chr5:112838766 [GRCh38]
Chr5:112174463 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5888T>C (p.Phe1963Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240780]|Hereditary cancer-predisposing syndrome [RCV001183434] Chr5:112841482 [GRCh38]
Chr5:112177179 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3457C>T (p.His1153Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176149] Chr5:112839051 [GRCh38]
Chr5:112174748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4303A>G (p.Arg1435Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551850]|Familial adenomatous polyposis 1 [RCV003537411]|Hereditary cancer-predisposing syndrome [RCV001022252] Chr5:112839897 [GRCh38]
Chr5:112175594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1172T>C (p.Ile391Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649179]|Hereditary cancer-predisposing syndrome [RCV001010126] Chr5:112819204 [GRCh38]
Chr5:112154901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5141A>G (p.Asp1714Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649224]|Hereditary cancer-predisposing syndrome [RCV001023607]|not provided [RCV001593188] Chr5:112840735 [GRCh38]
Chr5:112176432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5189C>G (p.Ser1730Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649225]|Hereditary cancer-predisposing syndrome [RCV001023685] Chr5:112840783 [GRCh38]
Chr5:112176480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2195A>G (p.Asn732Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001014737] Chr5:112837789 [GRCh38]
Chr5:112173486 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2258A>G (p.His753Arg) single nucleotide variant APC-Associated Polyposis Disorders [RCV001155355]|Familial adenomatous polyposis 1 [RCV003537393]|Hereditary cancer-predisposing syndrome [RCV001014955] Chr5:112837852 [GRCh38]
Chr5:112173549 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2303_2304insT (p.Ser770fs) insertion Hereditary cancer-predisposing syndrome [RCV001015014] Chr5:112837897..112837898 [GRCh38]
Chr5:112173594..112173595 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2304C>A (p.His768Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015020] Chr5:112837898 [GRCh38]
Chr5:112173595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2310A>G (p.Ser770=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649190]|Hereditary cancer-predisposing syndrome [RCV001015136] Chr5:112837904 [GRCh38]
Chr5:112173601 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.232G>A (p.Asp78Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537394]|Hereditary cancer-predisposing syndrome [RCV001015210] Chr5:112767200 [GRCh38]
Chr5:112102897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3868A>C (p.Asn1290His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652082] Chr5:112839462 [GRCh38]
Chr5:112175159 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8116G>A (p.Val2706Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652084] Chr5:112843710 [GRCh38]
Chr5:112179407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7829G>A (p.Gly2610Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649325] Chr5:112843423 [GRCh38]
Chr5:112179120 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5317A>G (p.Thr1773Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240216] Chr5:112840911 [GRCh38]
Chr5:112176608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2774G>T (p.Ser925Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537454]|Hereditary cancer-predisposing syndrome [RCV001186322] Chr5:112838368 [GRCh38]
Chr5:112174065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5051T>C (p.Phe1684Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649343]|Hereditary cancer-predisposing syndrome [RCV002339276] Chr5:112840645 [GRCh38]
Chr5:112176342 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4426G>A (p.Val1476Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770032]|Hereditary cancer-predisposing syndrome [RCV001183856] Chr5:112840020 [GRCh38]
Chr5:112175717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2391T>A (p.Gly797=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537396]|Hereditary cancer-predisposing syndrome [RCV001015378] Chr5:112837985 [GRCh38]
Chr5:112173682 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2392G>A (p.Asp798Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003461351]|Hereditary cancer-predisposing syndrome [RCV001015380] Chr5:112837986 [GRCh38]
Chr5:112173683 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2396A>G (p.Tyr799Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015394] Chr5:112837990 [GRCh38]
Chr5:112173687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2396A>T (p.Tyr799Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649191]|Hereditary cancer-predisposing syndrome [RCV001015395] Chr5:112837990 [GRCh38]
Chr5:112173687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2419G>A (p.Asp807Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537397]|Hereditary cancer-predisposing syndrome [RCV001015483]|not provided [RCV001759696] Chr5:112838013 [GRCh38]
Chr5:112173710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2449G>A (p.Gly817Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015578]|not specified [RCV001174553] Chr5:112838043 [GRCh38]
Chr5:112173740 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2468C>T (p.Ser823Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769476]|Hereditary cancer-predisposing syndrome [RCV001015634] Chr5:112838062 [GRCh38]
Chr5:112173759 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2512A>G (p.Arg838Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015736] Chr5:112838106 [GRCh38]
Chr5:112173803 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4177C>T (p.Leu1393Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652090] Chr5:112839771 [GRCh38]
Chr5:112175468 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7910G>A (p.Gly2637Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652091]|Hereditary cancer-predisposing syndrome [RCV003166507] Chr5:112843504 [GRCh38]
Chr5:112179201 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.506T>C (p.Ile169Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462672]|Hereditary cancer-predisposing syndrome [RCV002339500]|not specified [RCV001201299] Chr5:112775712 [GRCh38]
Chr5:112111409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5774C>T (p.Pro1925Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649326] Chr5:112841368 [GRCh38]
Chr5:112177065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6188A>G (p.His2063Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537442]|Hereditary cancer-predisposing syndrome [RCV003339434] Chr5:112841782 [GRCh38]
Chr5:112177479 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.158G>T (p.Gly53Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553076] Chr5:112766348 [GRCh38]
Chr5:112102045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4728dup (p.Glu1577fs) duplication Familial adenomatous polyposis 1 [RCV001843389] Chr5:112840320..112840321 [GRCh38]
Chr5:112176017..112176018 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7079G>A (p.Gly2360Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002067883]|Hereditary cancer-predisposing syndrome [RCV001177236]|not specified [RCV003493808] Chr5:112842673 [GRCh38]
Chr5:112178370 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.5591C>G (p.Ser1864Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184665] Chr5:112841185 [GRCh38]
Chr5:112176882 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2501C>A (p.Ser834Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177434] Chr5:112838095 [GRCh38]
Chr5:112173792 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5116T>C (p.Ser1706Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650631]|Hereditary cancer-predisposing syndrome [RCV001185132] Chr5:112840710 [GRCh38]
Chr5:112176407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2980T>C (p.Phe994Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650666] Chr5:112838574 [GRCh38]
Chr5:112174271 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8518G>T (p.Val2840Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652105] Chr5:112844112 [GRCh38]
Chr5:112179809 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5935A>G (p.Asn1979Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650671]|Hereditary cancer-predisposing syndrome [RCV003163553] Chr5:112841529 [GRCh38]
Chr5:112177226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5362C>A (p.Arg1788Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649228]|Hereditary cancer-predisposing syndrome [RCV001023975] Chr5:112840956 [GRCh38]
Chr5:112176653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2504C>T (p.Ser835Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015779] Chr5:112838098 [GRCh38]
Chr5:112173795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2531C>T (p.Ser844Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649193]|Hereditary cancer-predisposing syndrome [RCV001015860] Chr5:112838125 [GRCh38]
Chr5:112173822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2548A>C (p.Arg850=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769480]|Hereditary cancer-predisposing syndrome [RCV001015921] Chr5:112838142 [GRCh38]
Chr5:112173839 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2576G>C (p.Gly859Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001015996] Chr5:112838170 [GRCh38]
Chr5:112173867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2600C>T (p.Thr867Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769484]|Hereditary cancer-predisposing syndrome [RCV001016071] Chr5:112838194 [GRCh38]
Chr5:112173891 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2611G>C (p.Gly871Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016103] Chr5:112838205 [GRCh38]
Chr5:112173902 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.263G>T (p.Arg88Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649194]|Hereditary cancer-predisposing syndrome [RCV001016167] Chr5:112767231 [GRCh38]
Chr5:112102928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.970A>G (p.Thr324Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652094]|Hereditary cancer-predisposing syndrome [RCV002375285] Chr5:112819002 [GRCh38]
Chr5:112154699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5915T>C (p.Leu1972Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652095] Chr5:112841509 [GRCh38]
Chr5:112177206 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5765A>T (p.Gln1922Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652096]|Hereditary cancer-predisposing syndrome [RCV003166515] Chr5:112841359 [GRCh38]
Chr5:112177056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4897delinsTG (p.Thr1633fs) indel Familial adenomatous polyposis 1 [RCV003538635]|Hereditary cancer-predisposing syndrome [RCV002339675] Chr5:112840491 [GRCh38]
Chr5:112176188 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3464A>G (p.Glu1155Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538636]|Hereditary cancer-predisposing syndrome [RCV003166528] Chr5:112839058 [GRCh38]
Chr5:112174755 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.203del (p.Leu68fs) deletion Familial adenomatous polyposis 1 [RCV002561119]|Hereditary cancer-predisposing syndrome [RCV002418672] Chr5:112766391 [GRCh38]
Chr5:112102088 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3262A>G (p.Lys1088Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552473] Chr5:112838856 [GRCh38]
Chr5:112174553 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3664T>C (p.Ser1222Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537451]|Hereditary cancer-predisposing syndrome [RCV002451213] Chr5:112839258 [GRCh38]
Chr5:112174955 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5123T>A (p.Val1708Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769917]|Hereditary cancer-predisposing syndrome [RCV001177995] Chr5:112840717 [GRCh38]
Chr5:112176414 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3693C>G (p.Leu1231=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650632]|Hereditary cancer-predisposing syndrome [RCV001185332] Chr5:112839287 [GRCh38]
Chr5:112174984 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5929C>G (p.Gln1977Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178055] Chr5:112841523 [GRCh38]
Chr5:112177220 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2743G>T (p.Val915Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770062]|Hereditary cancer-predisposing syndrome [RCV001185437] Chr5:112838337 [GRCh38]
Chr5:112174034 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3329C>G (p.Ser1110Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001358570]|Familial multiple polyposis syndrome [RCV001192832] Chr5:112838923 [GRCh38]
Chr5:112174620 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3668C>G (p.Ser1223Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537496]|Hereditary cancer-predisposing syndrome [RCV001178283] Chr5:112839262 [GRCh38]
Chr5:112174959 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6081C>G (p.Leu2027=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178289] Chr5:112841675 [GRCh38]
Chr5:112177372 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4601G>T (p.Gly1534Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769566]|Hereditary cancer-predisposing syndrome [RCV001022769] Chr5:112840195 [GRCh38]
Chr5:112175892 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4670_4678dup (p.Ser1559_Glu1560insValAspSer) duplication Hereditary cancer-predisposing syndrome [RCV001022877] Chr5:112840263..112840264 [GRCh38]
Chr5:112175960..112175961 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2334T>G (p.Asn778Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652113] Chr5:112837928 [GRCh38]
Chr5:112173625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5425A>G (p.Lys1809Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552380]|Familial adenomatous polyposis 1 [RCV003649229]|Hereditary cancer-predisposing syndrome [RCV001024084] Chr5:112841019 [GRCh38]
Chr5:112176716 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2667del (p.Val890fs) deletion Hereditary cancer-predisposing syndrome [RCV001016253] Chr5:112838259 [GRCh38]
Chr5:112173956 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2681_2683delinsGTATG (p.Val894fs) indel Familial adenomatous polyposis 1 [RCV003337344]|Familial adenomatous polyposis 1 [RCV003649196]|Hereditary cancer-predisposing syndrome [RCV001016315] Chr5:112838275..112838277 [GRCh38]
Chr5:112173972..112173974 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2761_2766del (p.Ala921_Leu922del) deletion Hereditary cancer-predisposing syndrome [RCV001016526] Chr5:112838354..112838359 [GRCh38]
Chr5:112174051..112174056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2762C>T (p.Ala921Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649198]|Hereditary cancer-predisposing syndrome [RCV001016529] Chr5:112838356 [GRCh38]
Chr5:112174053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.277C>T (p.Leu93Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550818]|Hereditary cancer-predisposing syndrome [RCV001016583] Chr5:112767245 [GRCh38]
Chr5:112102942 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.277del (p.Leu93fs) deletion Familial adenomatous polyposis 1 [RCV003336246]|Hereditary cancer-predisposing syndrome [RCV001016584] Chr5:112767243 [GRCh38]
Chr5:112102940 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2816A>G (p.Lys939Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744698]|Hereditary cancer-predisposing syndrome [RCV001016670] Chr5:112838410 [GRCh38]
Chr5:112174107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2828C>G (p.Ser943Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336247]|Hereditary cancer-predisposing syndrome [RCV001016705] Chr5:112838422 [GRCh38]
Chr5:112174119 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5198C>T (p.Pro1733Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650720] Chr5:112840792 [GRCh38]
Chr5:112176489 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.887G>A (p.Ser296Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561919] Chr5:112815547 [GRCh38]
Chr5:112151244 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4057G>A (p.Glu1353Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650724] Chr5:112839651 [GRCh38]
Chr5:112175348 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7576C>T (p.His2526Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650667] Chr5:112843170 [GRCh38]
Chr5:112178867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3140A>C (p.Glu1047Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649272]|Hereditary cancer-predisposing syndrome [RCV002320238] Chr5:112838734 [GRCh38]
Chr5:112174431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.522_523del (p.Leu174fs) deletion Familial adenomatous polyposis 1 [RCV003649344] Chr5:112775728..112775729 [GRCh38]
Chr5:112111425..112111426 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3527C>G (p.Pro1176Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561669]|Hereditary cancer-predisposing syndrome [RCV003294009] Chr5:112839121 [GRCh38]
Chr5:112174818 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.35A>G (p.Gln12Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650681] Chr5:112754925 [GRCh38]
Chr5:112090622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3032C>G (p.Ala1011Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561685] Chr5:112838626 [GRCh38]
Chr5:112174323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5598T>C (p.Asp1866=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185690] Chr5:112841192 [GRCh38]
Chr5:112176889 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5791T>C (p.Ser1931Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185773] Chr5:112841385 [GRCh38]
Chr5:112177082 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4478_4479delinsTA (p.Thr1493Ile) indel Familial adenomatous polyposis 1 [RCV003650619]|Hereditary cancer-predisposing syndrome [RCV001178534] Chr5:112840072..112840073 [GRCh38]
Chr5:112175769..112175770 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8473T>C (p.Ser2825Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538602]|Hereditary cancer-predisposing syndrome [RCV002447038]|not specified [RCV001194204] Chr5:112844067 [GRCh38]
Chr5:112179764 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.626A>G (p.Asp209Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770185]|Hereditary cancer-predisposing syndrome [RCV002365892]|not specified [RCV001194207] Chr5:112780884 [GRCh38]
Chr5:112116581 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1291A>T (p.Met431Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649181]|Hereditary cancer-predisposing syndrome [RCV001010795] Chr5:112819323 [GRCh38]
Chr5:112155020 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5543C>T (p.Pro1848Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024253] Chr5:112841137 [GRCh38]
Chr5:112176834 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2849C>T (p.Pro950Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769493]|Hereditary cancer-predisposing syndrome [RCV001016780] Chr5:112838443 [GRCh38]
Chr5:112174140 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2913T>C (p.Asp971=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649200]|Hereditary cancer-predisposing syndrome [RCV001016946] Chr5:112838507 [GRCh38]
Chr5:112174204 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3376A>G (p.Ser1126Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537443]|Hereditary cancer-predisposing syndrome [RCV002454272]|Ovarian cancer [RCV003153898] Chr5:112838970 [GRCh38]
Chr5:112174667 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.8000A>G (p.Asn2667Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240266] Chr5:112843594 [GRCh38]
Chr5:112179291 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2211C>A (p.Tyr737Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336335] Chr5:112837805 [GRCh38]
Chr5:112173502 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3697C>T (p.Pro1233Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550864]|Hereditary cancer-predisposing syndrome [RCV001020904]|not provided [RCV001759708] Chr5:112839291 [GRCh38]
Chr5:112174988 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5645G>T (p.Arg1882Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024362] Chr5:112841239 [GRCh38]
Chr5:112176936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1346del (p.Ala449fs) deletion Hereditary cancer-predisposing syndrome [RCV001010979] Chr5:112821929 [GRCh38]
Chr5:112157626 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.572A>T (p.Tyr191Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024456] Chr5:112780830 [GRCh38]
Chr5:112116527 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1353T>C (p.Cys451=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744692]|Hereditary cancer-predisposing syndrome [RCV001011138] Chr5:112821936 [GRCh38]
Chr5:112157633 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1359A>T (p.Leu453=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769442]|Hereditary cancer-predisposing syndrome [RCV001011161] Chr5:112821942 [GRCh38]
Chr5:112157639 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5813A>G (p.Lys1938Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537417]|Hereditary cancer-predisposing syndrome [RCV001024565] Chr5:112841407 [GRCh38]
Chr5:112177104 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5817C>G (p.Asp1939Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769596]|Hereditary cancer-predisposing syndrome [RCV001024566] Chr5:112841411 [GRCh38]
Chr5:112177108 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5856G>C (p.Gln1952His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024606] Chr5:112841450 [GRCh38]
Chr5:112177147 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5885G>C (p.Cys1962Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024639] Chr5:112841479 [GRCh38]
Chr5:112177176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.588C>G (p.Ile196Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024641] Chr5:112780846 [GRCh38]
Chr5:112116543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5908A>T (p.Ser1970Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024670] Chr5:112841502 [GRCh38]
Chr5:112177199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5912C>T (p.Ser1971Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649231]|Hereditary cancer-predisposing syndrome [RCV001024678] Chr5:112841506 [GRCh38]
Chr5:112177203 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5923A>T (p.Ile1975Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649232]|Hereditary cancer-predisposing syndrome [RCV001024688] Chr5:112841517 [GRCh38]
Chr5:112177214 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1105TTG[1] (p.Leu370del) microsatellite Familial adenomatous polyposis 1 [RCV003148911]|Hereditary cancer-predisposing syndrome [RCV001017338] Chr5:112819137..112819139 [GRCh38]
Chr5:112154834..112154836 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1130A>G (p.Lys377Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550827]|Hereditary cancer-predisposing syndrome [RCV001017397] Chr5:112819162 [GRCh38]
Chr5:112154859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2930G>A (p.Gly977Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549455]|Hereditary cancer-predisposing syndrome [RCV001017527] Chr5:112838524 [GRCh38]
Chr5:112174221 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8329G>T (p.Val2777Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017555] Chr5:112843923 [GRCh38]
Chr5:112179620 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.293G>T (p.Ser98Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744700]|Hereditary cancer-predisposing syndrome [RCV001017616] Chr5:112767261 [GRCh38]
Chr5:112102958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8384C>G (p.Ala2795Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV001860872]|Hereditary cancer-predisposing syndrome [RCV001017654] Chr5:112843978 [GRCh38]
Chr5:112179675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8384C>T (p.Ala2795Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769501]|Hereditary cancer-predisposing syndrome [RCV001017655] Chr5:112843978 [GRCh38]
Chr5:112179675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6356C>T (p.Ala2119Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538617] Chr5:112841950 [GRCh38]
Chr5:112177647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3311C>A (p.Ser1104Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337357] Chr5:112838905 [GRCh38]
Chr5:112174602 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5483C>T (p.Pro1828Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744788] Chr5:112841077 [GRCh38]
Chr5:112176774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5842G>A (p.Asp1948Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239282] Chr5:112841436 [GRCh38]
Chr5:112177133 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.736T>C (p.Ser246Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649387] Chr5:112801285 [GRCh38]
Chr5:112136982 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3466G>T (p.Glu1156Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537452] Chr5:112839060 [GRCh38]
Chr5:112174757 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7112G>C (p.Arg2371Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553044]|Hereditary cancer-predisposing syndrome [RCV001179194] Chr5:112842706 [GRCh38]
Chr5:112178403 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7125A>C (p.Gln2375His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649347]|Hereditary cancer-predisposing syndrome [RCV002374932]|not provided [RCV001776112] Chr5:112842719 [GRCh38]
Chr5:112178416 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1348G>A (p.Val450Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650698] Chr5:112821931 [GRCh38]
Chr5:112157628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5510G>A (p.Ser1837Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562384]|Hereditary cancer-predisposing syndrome [RCV002348702] Chr5:112841104 [GRCh38]
Chr5:112176801 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8068G>T (p.Ala2690Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650702]|Hereditary cancer-predisposing syndrome [RCV003346372] Chr5:112843662 [GRCh38]
Chr5:112179359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5969C>T (p.Thr1990Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649233]|Hereditary cancer-predisposing syndrome [RCV001024728] Chr5:112841563 [GRCh38]
Chr5:112177260 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1407A>G (p.Leu469=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011414] Chr5:112821990 [GRCh38]
Chr5:112157687 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6055G>C (p.Val2019Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744712]|Hereditary cancer-predisposing syndrome [RCV001024842] Chr5:112841649 [GRCh38]
Chr5:112177346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6120G>T (p.Gln2040His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024913] Chr5:112841714 [GRCh38]
Chr5:112177411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6158C>A (p.Pro2053His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024956] Chr5:112841752 [GRCh38]
Chr5:112177449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6183A>G (p.Glu2061=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024977] Chr5:112841777 [GRCh38]
Chr5:112177474 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6204G>A (p.Met2068Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769601]|Hereditary cancer-predisposing syndrome [RCV001025009] Chr5:112841798 [GRCh38]
Chr5:112177495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1459G>C (p.Gly487Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011684] Chr5:112827158 [GRCh38]
Chr5:112162855 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2975G>A (p.Ser992Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017735] Chr5:112838569 [GRCh38]
Chr5:112174266 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8425dup (p.Val2809fs) duplication Hereditary cancer-predisposing syndrome [RCV001017745]|not provided [RCV001284726] Chr5:112844018..112844019 [GRCh38]
Chr5:112179715..112179716 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.8448A>C (p.Arg2816=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017782] Chr5:112844042 [GRCh38]
Chr5:112179739 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8455A>G (p.Lys2819Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017820] Chr5:112844049 [GRCh38]
Chr5:112179746 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.299A>G (p.Glu100Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017889] Chr5:112767267 [GRCh38]
Chr5:112102964 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8500C>T (p.His2834Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649204]|Hereditary cancer-predisposing syndrome [RCV001017926] Chr5:112844094 [GRCh38]
Chr5:112179791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3000C>A (p.Tyr1000Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336250]|Hereditary cancer-predisposing syndrome [RCV001017988] Chr5:112838594 [GRCh38]
Chr5:112174291 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.552G>T (p.Met184Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650797] Chr5:112780810 [GRCh38]
Chr5:112116507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3225T>A (p.Tyr1075Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336291] Chr5:112838819 [GRCh38]
Chr5:112174516 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5210G>T (p.Ser1737Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551510]|not provided [RCV002473171] Chr5:112840804 [GRCh38]
Chr5:112176501 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1353T>A (p.Cys451Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553928] Chr5:112821936 [GRCh38]
Chr5:112157633 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.145A>T (p.Lys49Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336231]|Hereditary cancer-predisposing syndrome [RCV001011686] Chr5:112766335 [GRCh38]
Chr5:112102032 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1474C>T (p.His492Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649183]|Hereditary cancer-predisposing syndrome [RCV001011739]|not provided [RCV001776077] Chr5:112827173 [GRCh38]
Chr5:112162870 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6288A>G (p.Ser2096=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025083] Chr5:112841882 [GRCh38]
Chr5:112177579 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1496G>A (p.Arg499Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769448]|Hereditary cancer-predisposing syndrome [RCV001011787] Chr5:112827195 [GRCh38]
Chr5:112162892 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6359C>T (p.Ala2120Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236272]|Hereditary cancer-predisposing syndrome [RCV001025171]|not specified [RCV002268410] Chr5:112841953 [GRCh38]
Chr5:112177650 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6384T>C (p.Ala2128=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025205] Chr5:112841978 [GRCh38]
Chr5:112177675 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+4A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025283] Chr5:112780907 [GRCh38]
Chr5:112116604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6451A>G (p.Thr2151Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236275]|Hereditary cancer-predisposing syndrome [RCV001025284] Chr5:112842045 [GRCh38]
Chr5:112177742 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6473C>T (p.Pro2158Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744714]|Hereditary cancer-predisposing syndrome [RCV001025305] Chr5:112842067 [GRCh38]
Chr5:112177764 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3060_3062delinsTAATTGG (p.Glu1020fs) indel Hereditary cancer-predisposing syndrome [RCV001018364] Chr5:112838654..112838656 [GRCh38]
Chr5:112174351..112174353 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.881del (p.Ser294fs) deletion Hereditary cancer-predisposing syndrome [RCV001018374] Chr5:112815541 [GRCh38]
Chr5:112151238 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3060del (p.Glu1020fs) deletion Hereditary cancer-predisposing syndrome [RCV001018394] Chr5:112838653 [GRCh38]
Chr5:112174350 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.885T>G (p.Ser295Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018420] Chr5:112815545 [GRCh38]
Chr5:112151242 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3985C>T (p.His1329Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563718]|Hereditary cancer-predisposing syndrome [RCV002356982] Chr5:112839579 [GRCh38]
Chr5:112175276 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1468A>G (p.Asn490Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650800]|Hereditary cancer-predisposing syndrome [RCV003166395] Chr5:112827167 [GRCh38]
Chr5:112162864 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4592dup (p.Asn1531fs) duplication Familial adenomatous polyposis 1 [RCV003538626] Chr5:112840182..112840183 [GRCh38]
Chr5:112175879..112175880 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.860A>G (p.Glu287Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650801] Chr5:112815520 [GRCh38]
Chr5:112151217 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8236G>T (p.Val2746Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650802] Chr5:112843830 [GRCh38]
Chr5:112179527 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.847C>G (p.Arg283Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649279] Chr5:112815507 [GRCh38]
Chr5:112151204 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4912A>G (p.Met1638Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537456]|Hereditary cancer-predisposing syndrome [RCV001526084] Chr5:112840506 [GRCh38]
Chr5:112176203 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.130A>G (p.Met44Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554454]|Hereditary cancer-predisposing syndrome [RCV003363093] Chr5:112755020 [GRCh38]
Chr5:112090717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6502C>A (p.Leu2168Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649239]|Hereditary cancer-predisposing syndrome [RCV001025351] Chr5:112842096 [GRCh38]
Chr5:112177793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6517A>G (p.Lys2173Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025363] Chr5:112842111 [GRCh38]
Chr5:112177808 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6535A>G (p.Lys2179Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649240]|Hereditary cancer-predisposing syndrome [RCV001025381]|not provided [RCV002284456] Chr5:112842129 [GRCh38]
Chr5:112177826 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6569G>A (p.Gly2190Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552397]|Hereditary cancer-predisposing syndrome [RCV001025417] Chr5:112842163 [GRCh38]
Chr5:112177860 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6611G>A (p.Arg2204Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552400]|Familial adenomatous polyposis 1 [RCV003649242]|Hereditary cancer-predisposing syndrome [RCV001025454]|not provided [RCV003319434] Chr5:112842205 [GRCh38]
Chr5:112177902 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6614C>A (p.Ser2205Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025456] Chr5:112842208 [GRCh38]
Chr5:112177905 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6640A>G (p.Lys2214Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550914]|Familial adenomatous polyposis 1 [RCV003744717]|Hereditary cancer-predisposing syndrome [RCV001025488]|not specified [RCV003155338] Chr5:112842234 [GRCh38]
Chr5:112177931 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6643C>G (p.Gln2215Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551927]|Hereditary cancer-predisposing syndrome [RCV001025492] Chr5:112842237 [GRCh38]
Chr5:112177934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6702A>T (p.Pro2234=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025557] Chr5:112842296 [GRCh38]
Chr5:112177993 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6717C>G (p.Ser2239Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649243]|Hereditary cancer-predisposing syndrome [RCV001025568] Chr5:112842311 [GRCh38]
Chr5:112178008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6728C>T (p.Thr2243Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236284]|Hereditary cancer-predisposing syndrome [RCV001025580] Chr5:112842322 [GRCh38]
Chr5:112178019 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6754C>T (p.Pro2252Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744719]|Hereditary cancer-predisposing syndrome [RCV001025613] Chr5:112842348 [GRCh38]
Chr5:112178045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.900A>C (p.Ala300=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236123]|Hereditary cancer-predisposing syndrome [RCV001018630] Chr5:112815560 [GRCh38]
Chr5:112151257 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3121C>T (p.Gln1041Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336251]|Hereditary cancer-predisposing syndrome [RCV001018712] Chr5:112838715 [GRCh38]
Chr5:112174412 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.909G>A (p.Arg303=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537401]|Hereditary cancer-predisposing syndrome [RCV001018832] Chr5:112815569 [GRCh38]
Chr5:112151266 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8137A>G (p.Met2713Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650808]|Hereditary cancer-predisposing syndrome [RCV002418792] Chr5:112843731 [GRCh38]
Chr5:112179428 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6515A>T (p.Glu2172Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538627]|Hereditary cancer-predisposing syndrome [RCV003166410] Chr5:112842109 [GRCh38]
Chr5:112177806 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3415A>G (p.Lys1139Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551518] Chr5:112839009 [GRCh38]
Chr5:112174706 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2668G>A (p.Val890Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554398]|not specified [RCV002268423] Chr5:112838262 [GRCh38]
Chr5:112173959 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6886A>G (p.Ser2296Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240498]|Hereditary cancer-predisposing syndrome [RCV001186455] Chr5:112842480 [GRCh38]
Chr5:112178177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7118T>A (p.Met2373Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649364] Chr5:112842712 [GRCh38]
Chr5:112178409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2549G>A (p.Arg850Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649365]|Hereditary cancer-predisposing syndrome [RCV002429702] Chr5:112838143 [GRCh38]
Chr5:112173840 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6542T>C (p.Ile2181Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649366] Chr5:112842136 [GRCh38]
Chr5:112177833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6816A>T (p.Arg2272Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769609]|Hereditary cancer-predisposing syndrome [RCV001025682] Chr5:112842410 [GRCh38]
Chr5:112178107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1624C>T (p.Gln542Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336233]|Familial adenomatous polyposis 1 [RCV003461327]|Hereditary cancer-predisposing syndrome [RCV001012465] Chr5:112828004 [GRCh38]
Chr5:112163701 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1627-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012475] Chr5:112828855 [GRCh38]
Chr5:112164552 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6922A>G (p.Thr2308Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025808] Chr5:112842516 [GRCh38]
Chr5:112178213 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6941A>G (p.Gln2314Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025828] Chr5:112842535 [GRCh38]
Chr5:112178232 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6970C>G (p.Pro2324Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025861]|not specified [RCV001264545] Chr5:112842564 [GRCh38]
Chr5:112178261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6981C>G (p.Asn2327Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003769616]|Hereditary cancer-predisposing syndrome [RCV001025878] Chr5:112842575 [GRCh38]
Chr5:112178272 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6981C>T (p.Asn2327=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649244]|Hereditary cancer-predisposing syndrome [RCV001025879] Chr5:112842575 [GRCh38]
Chr5:112178272 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6993T>A (p.Pro2331=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025887] Chr5:112842587 [GRCh38]
Chr5:112178284 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1669G>A (p.Val557Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744695]|Hereditary cancer-predisposing syndrome [RCV001012650] Chr5:112828898 [GRCh38]
Chr5:112164595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7012C>T (p.Pro2338Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649245]|Hereditary cancer-predisposing syndrome [RCV001025927]|not specified [RCV003387955] Chr5:112842606 [GRCh38]
Chr5:112178303 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.*1918G>C single nucleotide variant APC-Associated Polyposis Disorders [RCV001157479] Chr5:112846044 [GRCh38]
Chr5:112181741 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.6928T>C (p.Ser2310Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649318] Chr5:112842522 [GRCh38]
Chr5:112178219 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2641T>A (p.Ser881Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649337]|Hereditary cancer-predisposing syndrome [RCV002429654] Chr5:112838235 [GRCh38]
Chr5:112173932 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4027dup (p.Ser1343fs) duplication Familial adenomatous polyposis 1 [RCV003537445] Chr5:112839620..112839621 [GRCh38]
Chr5:112175317..112175318 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1720G>C (p.Glu574Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649338] Chr5:112828949 [GRCh38]
Chr5:112164646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3248A>G (p.Asp1083Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650737]|Hereditary cancer-predisposing syndrome [RCV002322062] Chr5:112838842 [GRCh38]
Chr5:112174539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3015C>G (p.Ala1005=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180704] Chr5:112838609 [GRCh38]
Chr5:112174306 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3553A>G (p.Thr1185Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649367] Chr5:112839147 [GRCh38]
Chr5:112174844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6541A>G (p.Ile2181Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649368]|Hereditary cancer-predisposing syndrome [RCV002365748] Chr5:112842135 [GRCh38]
Chr5:112177832 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2938A>C (p.Lys980Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650799] Chr5:112838532 [GRCh38]
Chr5:112174229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7093T>C (p.Ser2365Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744720]|Hereditary cancer-predisposing syndrome [RCV001026028] Chr5:112842687 [GRCh38]
Chr5:112178384 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.726A>G (p.Ala242=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649247]|Hereditary cancer-predisposing syndrome [RCV001026216] Chr5:112792526 [GRCh38]
Chr5:112128223 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7681G>T (p.Val2561Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650754] Chr5:112843275 [GRCh38]
Chr5:112178972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5103A>C (p.Gln1701His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650768] Chr5:112840697 [GRCh38]
Chr5:112176394 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3207G>C (p.Arg1069Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553192] Chr5:112838801 [GRCh38]
Chr5:112174498 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4828A>T (p.Ser1610Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023117] Chr5:112840422 [GRCh38]
Chr5:112176119 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.346G>C (p.Gly116Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649282] Chr5:112767314 [GRCh38]
Chr5:112103011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4327C>G (p.Pro1443Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650739] Chr5:112839921 [GRCh38]
Chr5:112175618 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.161G>A (p.Ser54Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649369]|Hereditary cancer-predisposing syndrome [RCV002393310] Chr5:112766351 [GRCh38]
Chr5:112102048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5873A>G (p.Asn1958Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650686] Chr5:112841467 [GRCh38]
Chr5:112177164 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6746A>G (p.Lys2249Arg) single nucleotide variant not specified [RCV001264494] Chr5:112842340 [GRCh38]
Chr5:112178037 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1720G>T (p.Glu574Ter) single nucleotide variant Colorectal cancer [RCV001262201]|Familial adenomatous polyposis 1 [RCV001253489]|Familial adenomatous polyposis 1 [RCV003336358] Chr5:112828949 [GRCh38]
Chr5:112164646 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112696987C>T single nucleotide variant not provided [RCV002293123] Chr5:112696987 [GRCh38]
Chr5:112032684 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.2158A>T (p.Met720Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804259] Chr5:112837752 [GRCh38]
Chr5:112173449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-11C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538673] Chr5:112707707 [GRCh38]
Chr5:112043404 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.667C>G (p.Gln223Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242678] Chr5:112792467 [GRCh38]
Chr5:112128164 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.102C>G (p.Val34=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538718] Chr5:112707819 [GRCh38]
Chr5:112043516 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112164547)_(112164675_?)del deletion Familial adenomatous polyposis 1 [RCV002241674] Chr5:112164547..112164675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-130G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652140] Chr5:112707588 [GRCh38]
Chr5:112043285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3224dup (p.Tyr1075Ter) duplication Familial adenomatous polyposis 1 [RCV003336371]|not provided [RCV001284352] Chr5:112838817..112838818 [GRCh38]
Chr5:112174514..112174515 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2528del (p.Ser843fs) deletion Familial adenomatous polyposis 1 [RCV001256668] Chr5:112838122 [GRCh38]
Chr5:112173819 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1099T>A (p.Ser367Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538668] Chr5:112819131 [GRCh38]
Chr5:112154828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-39T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538720] Chr5:112707679 [GRCh38]
Chr5:112043376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707429C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538721] Chr5:112707429 [GRCh38]
Chr5:112043126 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707349A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652196] Chr5:112707349 [GRCh38]
Chr5:112043046 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707339A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652123] Chr5:112707339 [GRCh38]
Chr5:112043036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8042C>A (p.Pro2681Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241925] Chr5:112843636 [GRCh38]
Chr5:112179333 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1288G>C (p.Gly430Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652199] Chr5:112819320 [GRCh38]
Chr5:112155017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8363C>A (p.Pro2788Gln) single nucleotide variant not provided [RCV001545602] Chr5:112843957 [GRCh38]
Chr5:112179654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.47C>G (p.Ser16Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745448] Chr5:112707764 [GRCh38]
Chr5:112043461 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5821C>A (p.Pro1941Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003164421]|not specified [RCV002281794] Chr5:112841415 [GRCh38]
Chr5:112177112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2929G>A (p.Gly977Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770646]|Hereditary cancer-predisposing syndrome [RCV002437070] Chr5:112838523 [GRCh38]
Chr5:112174220 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5164G>A (p.Asp1722Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV001292970]|Familial adenomatous polyposis 1 [RCV003652122]|Hereditary cancer-predisposing syndrome [RCV003166630] Chr5:112840758 [GRCh38]
Chr5:112176455 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-81A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538639] Chr5:112707637 [GRCh38]
Chr5:112043334 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1315C>G (p.Pro439Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV001262204] Chr5:112821898 [GRCh38]
Chr5:112157595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-78C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002242406] Chr5:112707640 [GRCh38]
Chr5:112043337 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8288G>T (p.Ser2763Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770572] Chr5:112843882 [GRCh38]
Chr5:112179579 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6563T>C (p.Ile2188Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744799]|Hereditary cancer-predisposing syndrome [RCV002366144] Chr5:112842157 [GRCh38]
Chr5:112177854 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4750C>G (p.Pro1584Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770651] Chr5:112840344 [GRCh38]
Chr5:112176041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-76G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652197] Chr5:112707642 [GRCh38]
Chr5:112043339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1863_1866del (p.Tyr622fs) microsatellite Familial adenomatous polyposis 1 [RCV003337362]|not provided [RCV001268810] Chr5:112835065..112835068 [GRCh38]
Chr5:112170762..112170765 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707400G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002241672] Chr5:112707400 [GRCh38]
Chr5:112043097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707399del deletion Familial adenomatous polyposis 1 [RCV003773221] Chr5:112707398 [GRCh38]
Chr5:112043095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-161T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773142] Chr5:112707557 [GRCh38]
Chr5:112043254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-171G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003153979] Chr5:112707547 [GRCh38]
Chr5:112043244 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1897G>T (p.Glu633Ter) single nucleotide variant not provided [RCV001269532] Chr5:112835104 [GRCh38]
Chr5:112170801 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1001T>A (p.Leu334Ter) single nucleotide variant not provided [RCV001269545] Chr5:112819033 [GRCh38]
Chr5:112154730 [GRCh37]
Chr5:5q22.2		 pathogenic
NG_008481.4:g.80993_92693delins86116_86422inv indel Familial adenomatous polyposis 1 [RCV001270147] Chr5:5q22.2 pathogenic
NM_000038.6(APC):c.3005C>G (p.Ala1002Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770997]|Hereditary cancer-predisposing syndrome [RCV002438811]|not provided [RCV003238353] Chr5:112838599 [GRCh38]
Chr5:112174296 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707423A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003745364] Chr5:112707423 [GRCh38]
Chr5:112043120 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4604A>G (p.Asn1535Ser) single nucleotide variant not provided [RCV001283862] Chr5:112840198 [GRCh38]
Chr5:112175895 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.88A>T (p.Ser30Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773374] Chr5:112707805 [GRCh38]
Chr5:112043502 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q22.1-22.2(chr5:111420575-112116548)x3 copy number gain not provided [RCV001259354] Chr5:111420575..112116548 [GRCh37]
Chr5:5q22.1-22.2		 uncertain significance
NM_000038.6(APC):c.4639G>A (p.Glu1547Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462872] Chr5:112840233 [GRCh38]
Chr5:112175930 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3726G>T (p.Gln1242His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241935] Chr5:112839320 [GRCh38]
Chr5:112175017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707409G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002241814] Chr5:112707409 [GRCh38]
Chr5:112043106 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6248T>A (p.Ile2083Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538665] Chr5:112841842 [GRCh38]
Chr5:112177539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5252A>C (p.Gln1751Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002547409] Chr5:112840846 [GRCh38]
Chr5:112176543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5836G>A (p.Ala1946Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770715] Chr5:112841430 [GRCh38]
Chr5:112177127 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1169_1170delinsAG (p.Ile390Lys) indel Familial adenomatous polyposis 1 [RCV002242069] Chr5:112819201..112819202 [GRCh38]
Chr5:112154898..112154899 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5033_5034delinsAA (p.Gly1678Glu) indel Familial adenomatous polyposis 1 [RCV002242436]|Hereditary cancer-predisposing syndrome [RCV003169750] Chr5:112840627..112840628 [GRCh38]
Chr5:112176324..112176325 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4736T>C (p.Ile1579Thr) single nucleotide variant not provided [RCV001352685] Chr5:112840330 [GRCh38]
Chr5:112176027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.61G>T (p.Val21Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652163] Chr5:112707778 [GRCh38]
Chr5:112043475 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-217T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003770904] Chr5:112707501 [GRCh38]
Chr5:112043198 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3275A>G (p.His1092Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002541918] Chr5:112838869 [GRCh38]
Chr5:112174566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5150A>T (p.Lys1717Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652127] Chr5:112840744 [GRCh38]
Chr5:112176441 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-175G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538701] Chr5:112707543 [GRCh38]
Chr5:112043240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1315C>T (p.Pro439Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770913] Chr5:112821898 [GRCh38]
Chr5:112157595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.131C>G (p.Ala44Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538656] Chr5:112707848 [GRCh38]
Chr5:112043545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.436G>T (p.Ala146Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770799] Chr5:112775642 [GRCh38]
Chr5:112111339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5627G>A (p.Arg1876Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242019]|Hereditary cancer-predisposing syndrome [RCV002350540] Chr5:112841221 [GRCh38]
Chr5:112176918 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-126_-125insT insertion Familial adenomatous polyposis 1 [RCV002241754] Chr5:112707592..112707593 [GRCh38]
Chr5:112043289..112043290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707420C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538645] Chr5:112707420 [GRCh38]
Chr5:112043117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8218_8219delinsTT (p.Pro2740Leu) indel Familial adenomatous polyposis 1 [RCV003770768] Chr5:112843812..112843813 [GRCh38]
Chr5:112179509..112179510 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-158G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538689] Chr5:112707560 [GRCh38]
Chr5:112043257 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.392C>T (p.Thr131Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462868]|Hereditary cancer-predisposing syndrome [RCV002357097] Chr5:112767360 [GRCh38]
Chr5:112103057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1293G>C (p.Met431Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771013] Chr5:112819325 [GRCh38]
Chr5:112155022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1694A>G (p.Glu565Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770602] Chr5:112828923 [GRCh38]
Chr5:112164620 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4663A>G (p.Lys1555Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770885] Chr5:112840257 [GRCh38]
Chr5:112175954 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.78C>T (p.Ser26=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538686] Chr5:112707795 [GRCh38]
Chr5:112043492 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3309G>T (p.Arg1103Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652164]|Hereditary cancer-predisposing syndrome [RCV002322238] Chr5:112838903 [GRCh38]
Chr5:112174600 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707390_112707391del deletion Familial adenomatous polyposis 1 [RCV003538648] Chr5:112707389..112707390 [GRCh38]
Chr5:112043086..112043087 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7351A>G (p.Thr2451Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770493] Chr5:112842945 [GRCh38]
Chr5:112178642 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1118C>A (p.Ser373Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770795] Chr5:112819150 [GRCh38]
Chr5:112154847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.898G>A (p.Ala300Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462876] Chr5:112815558 [GRCh38]
Chr5:112151255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4209C>A (p.Ser1403Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770797] Chr5:112839803 [GRCh38]
Chr5:112175500 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+4A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652179] Chr5:112707886 [GRCh38]
Chr5:112043583 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.106C>A (p.Gln36Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771028] Chr5:112707823 [GRCh38]
Chr5:112043520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1977C>G (p.Asn659Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538663] Chr5:112837571 [GRCh38]
Chr5:112173268 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3437G>T (p.Arg1146Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770611]|Hereditary cancer-predisposing syndrome [RCV002456398] Chr5:112839031 [GRCh38]
Chr5:112174728 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.151G>A (p.Ala51Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770918] Chr5:112707868 [GRCh38]
Chr5:112043565 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707329G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652175] Chr5:112707329 [GRCh38]
Chr5:112043026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-56_-47dup duplication Familial adenomatous polyposis 1 [RCV002543208] Chr5:112707659..112707660 [GRCh38]
Chr5:112043356..112043357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-133_-132insA insertion Familial adenomatous polyposis 1 [RCV002543209]|not specified [RCV002268470] Chr5:112707585..112707586 [GRCh38]
Chr5:112043282..112043283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707461C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538649] Chr5:112707461 [GRCh38]
Chr5:112043158 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-79G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003153977] Chr5:112707639 [GRCh38]
Chr5:112043336 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6558A>G (p.Lys2186=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538655] Chr5:112842152 [GRCh38]
Chr5:112177849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.102C>T (p.Val34=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652143] Chr5:112707819 [GRCh38]
Chr5:112043516 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+4C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652146] Chr5:112828010 [GRCh38]
Chr5:112163707 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-85C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652161] Chr5:112707633 [GRCh38]
Chr5:112043330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3586T>C (p.Ser1196Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770492] Chr5:112839180 [GRCh38]
Chr5:112174877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4316C>T (p.Pro1439Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770551] Chr5:112839910 [GRCh38]
Chr5:112175607 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-5C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770724] Chr5:112818961 [GRCh38]
Chr5:112154658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.123G>C (p.Pro41=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241770] Chr5:112707840 [GRCh38]
Chr5:112043537 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-1T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652201] Chr5:112707717 [GRCh38]
Chr5:112043414 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2768G>A (p.Arg923Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462878] Chr5:112838362 [GRCh38]
Chr5:112174059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4999A>C (p.Asn1667His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242204] Chr5:112840593 [GRCh38]
Chr5:112176290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2198G>T (p.Arg733Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770922] Chr5:112837792 [GRCh38]
Chr5:112173489 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7303C>G (p.Pro2435Ala) single nucleotide variant not specified [RCV001280643] Chr5:112842897 [GRCh38]
Chr5:112178594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4598A>G (p.Asn1533Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770666]|Hereditary cancer-predisposing syndrome [RCV001526045] Chr5:112840192 [GRCh38]
Chr5:112175889 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.119G>T (p.Ser40Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745309] Chr5:112707836 [GRCh38]
Chr5:112043533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707437C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770608] Chr5:112707437 [GRCh38]
Chr5:112043134 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5151A>C (p.Lys1717Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770683] Chr5:112840745 [GRCh38]
Chr5:112176442 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707377G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652184] Chr5:112707377 [GRCh38]
Chr5:112043074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-154G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003770773] Chr5:112707564 [GRCh38]
Chr5:112043261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707478G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538642] Chr5:112707478 [GRCh38]
Chr5:112043175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3232T>C (p.Tyr1078His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538704]|Hereditary cancer-predisposing syndrome [RCV002447378] Chr5:112838826 [GRCh38]
Chr5:112174523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-144T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538680] Chr5:112707574 [GRCh38]
Chr5:112043271 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4909G>C (p.Asp1637His) single nucleotide variant not provided [RCV001283864] Chr5:112840503 [GRCh38]
Chr5:112176200 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707327G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003652168] Chr5:112707327 [GRCh38]
Chr5:112043024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4680A>G (p.Glu1560=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770811]|Hereditary cancer-predisposing syndrome [RCV003294314]|not specified [RCV001328355] Chr5:112840274 [GRCh38]
Chr5:112175971 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.80C>G (p.Thr27Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652157] Chr5:112707797 [GRCh38]
Chr5:112043494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4327C>T (p.Pro1443Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770779] Chr5:112839921 [GRCh38]
Chr5:112175618 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8227AAT[1] (p.Asn2744del) microsatellite Familial adenomatous polyposis 1 [RCV003770781]|Hereditary cancer-predisposing syndrome [RCV002412046] Chr5:112843821..112843823 [GRCh38]
Chr5:112179518..112179520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.156C>T (p.Ser52=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242072] Chr5:112707873 [GRCh38]
Chr5:112043570 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-46A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744801] Chr5:112707672 [GRCh38]
Chr5:112043369 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-8C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002242250] Chr5:112707710 [GRCh38]
Chr5:112043407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6523A>G (p.Thr2175Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770988]|Hereditary cancer-predisposing syndrome [RCV002368144] Chr5:112842117 [GRCh38]
Chr5:112177814 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5077G>A (p.Glu1693Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770640] Chr5:112840671 [GRCh38]
Chr5:112176368 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707361C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538706] Chr5:112707361 [GRCh38]
Chr5:112043058 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-112G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538683] Chr5:112707606 [GRCh38]
Chr5:112043303 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6632G>A (p.Gly2211Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770719] Chr5:112842226 [GRCh38]
Chr5:112177923 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-197A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770803] Chr5:112707521 [GRCh38]
Chr5:112043218 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707361_112707362delinsTG indel Familial adenomatous polyposis 1 [RCV003744796] Chr5:112707361..112707362 [GRCh38]
Chr5:112043058..112043059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707437C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003153975] Chr5:112707437 [GRCh38]
Chr5:112043134 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4087A>G (p.Lys1363Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744803]|Hereditary cancer-predisposing syndrome [RCV001523999]|not provided [RCV002305596] Chr5:112839681 [GRCh38]
Chr5:112175378 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3139G>A (p.Glu1047Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241826] Chr5:112838733 [GRCh38]
Chr5:112174430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3515A>G (p.His1172Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770733] Chr5:112839109 [GRCh38]
Chr5:112174806 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.82G>A (p.Gly28Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652187] Chr5:112707799 [GRCh38]
Chr5:112043496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707368G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538692] Chr5:112707368 [GRCh38]
Chr5:112043065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707355A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652177] Chr5:112707355 [GRCh38]
Chr5:112043052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8381G>C (p.Ser2794Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770525] Chr5:112843975 [GRCh38]
Chr5:112179672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2098G>A (p.Asp700Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770549] Chr5:112837692 [GRCh38]
Chr5:112173389 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-164G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652167] Chr5:112707554 [GRCh38]
Chr5:112043251 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707413del deletion Familial adenomatous polyposis 1 [RCV003652176] Chr5:112707412 [GRCh38]
Chr5:112043109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.334C>T (p.Pro112Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538709]|Hereditary cancer-predisposing syndrome [RCV002322274] Chr5:112767302 [GRCh38]
Chr5:112102999 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1126A>G (p.Ser376Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770680]|Hereditary cancer-predisposing syndrome [RCV002447342] Chr5:112819158 [GRCh38]
Chr5:112154855 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-163G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003770704] Chr5:112707555 [GRCh38]
Chr5:112043252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6907G>T (p.Gly2303Ter) single nucleotide variant Colorectal cancer [RCV001293810] Chr5:112842501 [GRCh38]
Chr5:112178198 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3979T>C (p.Ser1327Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770932]|Hereditary cancer-predisposing syndrome [RCV002377453] Chr5:112839573 [GRCh38]
Chr5:112175270 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2729C>T (p.Thr910Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771023] Chr5:112838323 [GRCh38]
Chr5:112174020 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707350C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002242261] Chr5:112707350 [GRCh38]
Chr5:112043047 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-128G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652185] Chr5:112707590 [GRCh38]
Chr5:112043287 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707378G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652135] Chr5:112707378 [GRCh38]
Chr5:112043075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-197A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744798] Chr5:112707521 [GRCh38]
Chr5:112043218 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.33C>G (p.Ala11=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770558] Chr5:112707750 [GRCh38]
Chr5:112043447 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112115546)_(112179833_?)dup duplication Familial adenomatous polyposis 1 [RCV001294716] Chr5:112115546..112179833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112043009)_(112179833_?)dup duplication Familial adenomatous polyposis 1 [RCV001294717] Chr5:112043009..112179833 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8053A>G (p.Ser2685Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241902]|Hereditary cancer-predisposing syndrome [RCV002418943] Chr5:112843647 [GRCh38]
Chr5:112179344 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-90G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002242017] Chr5:112707628 [GRCh38]
Chr5:112043325 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.159C>T (p.Val53=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242035] Chr5:112707876 [GRCh38]
Chr5:112043573 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2563G>C (p.Glu855Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652155]|Hereditary cancer-predisposing syndrome [RCV002431883] Chr5:112838157 [GRCh38]
Chr5:112173854 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4774A>C (p.Lys1592Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242506]|Hereditary cancer-predisposing syndrome [RCV002329334] Chr5:112840368 [GRCh38]
Chr5:112176065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7672C>T (p.Leu2558Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770591] Chr5:112843266 [GRCh38]
Chr5:112178963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-13C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538711] Chr5:112707705 [GRCh38]
Chr5:112043402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8044G>A (p.Val2682Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770697] Chr5:112843638 [GRCh38]
Chr5:112179335 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.827A>G (p.Asn276Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770893]|Hereditary cancer-predisposing syndrome [RCV002431950] Chr5:112801376 [GRCh38]
Chr5:112137073 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NC_000005.10:g.112707415C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770894] Chr5:112707415 [GRCh38]
Chr5:112043112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707424G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002241897] Chr5:112707424 [GRCh38]
Chr5:112043121 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.103C>G (p.Arg35Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538691] Chr5:112707820 [GRCh38]
Chr5:112043517 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5992G>C (p.Glu1998Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770921] Chr5:112841586 [GRCh38]
Chr5:112177283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3783T>A (p.Thr1261=) single nucleotide variant not specified [RCV001293519] Chr5:112839377 [GRCh38]
Chr5:112175074 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2870A>C (p.Lys957Thr) single nucleotide variant not specified [RCV001293563] Chr5:112838464 [GRCh38]
Chr5:112174161 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4139C>G (p.Thr1380Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242396]|Hereditary cancer-predisposing syndrome [RCV002329336] Chr5:112839733 [GRCh38]
Chr5:112175430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.82G>C (p.Gly28Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538684] Chr5:112707799 [GRCh38]
Chr5:112043496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5227G>A (p.Val1743Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770650] Chr5:112840821 [GRCh38]
Chr5:112176518 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4574T>C (p.Met1525Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770665]|Hereditary cancer-predisposing syndrome [RCV002341638]|not provided [RCV001776191] Chr5:112840168 [GRCh38]
Chr5:112175865 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.814G>T (p.Ala272Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770737] Chr5:112801363 [GRCh38]
Chr5:112137060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.53C>G (p.Pro18Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652169] Chr5:112707770 [GRCh38]
Chr5:112043467 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.153G>T (p.Ala51=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652170] Chr5:112707870 [GRCh38]
Chr5:112043567 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.120C>A (p.Ser40Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770490] Chr5:112707837 [GRCh38]
Chr5:112043534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-138C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770595] Chr5:112707580 [GRCh38]
Chr5:112043277 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.82G>A (p.Glu28Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770895] Chr5:112754972 [GRCh38]
Chr5:112090669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-17G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003770924] Chr5:112707701 [GRCh38]
Chr5:112043398 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6301T>C (p.Trp2101Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770726]|Hereditary cancer-predisposing syndrome [RCV002357150] Chr5:112841895 [GRCh38]
Chr5:112177592 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.100_101del (p.Val34fs) deletion Familial adenomatous polyposis 1 [RCV003652186] Chr5:112707817..112707818 [GRCh38]
Chr5:112043514..112043515 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7429T>A (p.Ser2477Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770730] Chr5:112843023 [GRCh38]
Chr5:112178720 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.84C>A (p.Gly28=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652136] Chr5:112707801 [GRCh38]
Chr5:112043498 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.116A>G (p.Lys39Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652145] Chr5:112707833 [GRCh38]
Chr5:112043530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.122C>G (p.Pro41Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770873] Chr5:112707839 [GRCh38]
Chr5:112043536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3673G>T (p.Ala1225Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241676] Chr5:112839267 [GRCh38]
Chr5:112174964 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-63G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002541921] Chr5:112707655 [GRCh38]
Chr5:112043352 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707478G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002543761] Chr5:112707478 [GRCh38]
Chr5:112043175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8005C>T (p.Pro2669Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002546156] Chr5:112843599 [GRCh38]
Chr5:112179296 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1619T>C (p.Leu540Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242265] Chr5:112827999 [GRCh38]
Chr5:112163696 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4050A>C (p.Lys1350Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770596] Chr5:112839644 [GRCh38]
Chr5:112175341 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5286A>C (p.Lys1762Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770673] Chr5:112840880 [GRCh38]
Chr5:112176577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2962G>A (p.Glu988Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002541903] Chr5:112838556 [GRCh38]
Chr5:112174253 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3421A>G (p.Thr1141Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772218]|Hereditary cancer-predisposing syndrome [RCV001802758] Chr5:112839015 [GRCh38]
Chr5:112174712 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5089A>T (p.Thr1697Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804418] Chr5:112840683 [GRCh38]
Chr5:112176380 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-2del deletion Familial adenomatous polyposis 1 [RCV003538652] Chr5:112707712 [GRCh38]
Chr5:112043409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707390G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002543102] Chr5:112707390 [GRCh38]
Chr5:112043087 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-50G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003652154] Chr5:112707668 [GRCh38]
Chr5:112043365 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4745C>T (p.Ala1582Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242020] Chr5:112840339 [GRCh38]
Chr5:112176036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6484A>C (p.Asn2162His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242339] Chr5:112842078 [GRCh38]
Chr5:112177775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-208T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538662] Chr5:112707510 [GRCh38]
Chr5:112043207 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-205C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002242217] Chr5:112707513 [GRCh38]
Chr5:112043210 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3618_3619insTTTGTTCATCTGGAC (p.Ser1206_Lys1207insPheValHisLeuAsp) insertion Familial adenomatous polyposis 1 [RCV003770482] Chr5:112839212..112839213 [GRCh38]
Chr5:112174909..112174910 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-62TTG[1] microsatellite Familial adenomatous polyposis 1 [RCV003538654] Chr5:112707654..112707656 [GRCh38]
Chr5:112043351..112043353 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.10T>C (p.Ser4Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002541935] Chr5:112707727 [GRCh38]
Chr5:112043424 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6397G>A (p.Asp2133Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770585]|Hereditary cancer-predisposing syndrome [RCV002366150] Chr5:112841991 [GRCh38]
Chr5:112177688 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7564C>G (p.Pro2522Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652188] Chr5:112843158 [GRCh38]
Chr5:112178855 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7234A>G (p.Lys2412Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538696]|Hereditary cancer-predisposing syndrome [RCV003294287] Chr5:112842828 [GRCh38]
Chr5:112178525 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.31G>A (p.Ala11Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242229] Chr5:112707748 [GRCh38]
Chr5:112043445 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1963A>C (p.Ile655Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538672]|Hereditary cancer-predisposing syndrome [RCV002418947]|not provided [RCV003478770] Chr5:112837557 [GRCh38]
Chr5:112173254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+15A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745312] Chr5:112707897 [GRCh38]
Chr5:112043594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1102G>C (p.Val368Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770669]|Hereditary cancer-predisposing syndrome [RCV001524265] Chr5:112819134 [GRCh38]
Chr5:112154831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2714G>A (p.Ser905Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770655]|not provided [RCV003442839] Chr5:112838308 [GRCh38]
Chr5:112174005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3137A>C (p.Asn1046Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241760] Chr5:112838731 [GRCh38]
Chr5:112174428 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3556G>A (p.Asp1186Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770910]|Hereditary cancer-predisposing syndrome [RCV003294339] Chr5:112839150 [GRCh38]
Chr5:112174847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707354G>C single nucleotide variant APC-related condition [RCV003928848]|Familial adenomatous polyposis 1 [RCV003652182] Chr5:112707354 [GRCh38]
Chr5:112043051 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NC_000005.10:g.112707439G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003770879] Chr5:112707439 [GRCh38]
Chr5:112043136 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3699A>G (p.Pro1233=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652262] Chr5:112839293 [GRCh38]
Chr5:112174990 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3970C>A (p.Pro1324Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241842] Chr5:112839564 [GRCh38]
Chr5:112175261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531T>C (p.Asn177=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538682]|Hereditary cancer-predisposing syndrome [RCV002350579] Chr5:112775737 [GRCh38]
Chr5:112111434 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7657A>G (p.Lys2553Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770807] Chr5:112843251 [GRCh38]
Chr5:112178948 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-206C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002550150] Chr5:112707512 [GRCh38]
Chr5:112043209 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707323T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538741] Chr5:112707323 [GRCh38]
Chr5:112043020 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707362T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002550033] Chr5:112707362 [GRCh38]
Chr5:112043059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707465C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003771088] Chr5:112707465 [GRCh38]
Chr5:112043162 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3864A>G (p.Gly1288=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554048]|Hereditary cancer-predisposing syndrome [RCV003584931] Chr5:112839458 [GRCh38]
Chr5:112175155 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1431A>G (p.Glu477=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652263]|Hereditary cancer-predisposing syndrome [RCV003584932] Chr5:112827130 [GRCh38]
Chr5:112162827 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707406C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770594] Chr5:112707406 [GRCh38]
Chr5:112043103 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1093A>C (p.Lys365Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770687] Chr5:112819125 [GRCh38]
Chr5:112154822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-132_-131insC insertion Familial adenomatous polyposis 1 [RCV003154015] Chr5:112707586..112707587 [GRCh38]
Chr5:112043283..112043284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-77T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003771190] Chr5:112707641 [GRCh38]
Chr5:112043338 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-133_-131delinsGTC indel Familial adenomatous polyposis 1 [RCV002242669] Chr5:112707585..112707587 [GRCh38]
Chr5:112043282..112043284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.140C>G (p.Ser47Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745311] Chr5:112707857 [GRCh38]
Chr5:112043554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2888G>C (p.Ser963Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770772] Chr5:112838482 [GRCh38]
Chr5:112174179 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3455A>G (p.Gln1152Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538724] Chr5:112839049 [GRCh38]
Chr5:112174746 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-205C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538678] Chr5:112707513 [GRCh38]
Chr5:112043210 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5543C>A (p.Pro1848His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002543183]|Familial adenomatous polyposis 1 [RCV003538661]|Hereditary cancer-predisposing syndrome [RCV003294243] Chr5:112841137 [GRCh38]
Chr5:112176834 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4413_4420dup (p.Ala1474delinsGluTer) duplication not provided [RCV001284709] Chr5:112840006..112840007 [GRCh38]
Chr5:112175703..112175704 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1742_1743del (p.Lys581fs) deletion Familial adenomatous polyposis 1 [RCV001354156] Chr5:112828971..112828972 [GRCh38]
Chr5:112164668..112164669 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6946C>T (p.Pro2316Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003469595] Chr5:112842540 [GRCh38]
Chr5:112178237 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1310_1311delinsAC (p.Pro437His) indel Familial adenomatous polyposis 1 [RCV003771141]|not provided [RCV003478800] Chr5:112819342..112819343 [GRCh38]
Chr5:112155039..112155040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.148T>G (p.Trp50Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652217] Chr5:112707865 [GRCh38]
Chr5:112043562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3746_3747delinsAA (p.Cys1249Ter) indel Familial adenomatous polyposis 1 [RCV003538767] Chr5:112839340..112839341 [GRCh38]
Chr5:112175037..112175038 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.729+15T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003652120]|not provided [RCV001810554] Chr5:112792544 [GRCh38]
Chr5:112128241 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-8C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003770507] Chr5:112801271 [GRCh38]
Chr5:112136968 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6824A>G (p.Lys2275Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770512] Chr5:112842418 [GRCh38]
Chr5:112178115 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.121dup (p.Ala41fs) duplication not provided [RCV001354289] Chr5:112755009..112755010 [GRCh38]
Chr5:112090706..112090707 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2893_2896del (p.Asn965fs) deletion Carcinoma of colon [RCV001354704]|Hereditary cancer-predisposing syndrome [RCV002438824]|not provided [RCV001726490] Chr5:112838485..112838488 [GRCh38]
Chr5:112174182..112174185 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2342C>A (p.Pro781His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771160] Chr5:112837936 [GRCh38]
Chr5:112173633 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6971C>G (p.Pro2324Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242704]|Familial adenomatous polyposis 1 [RCV003473883]|Hereditary cancer-predisposing syndrome [RCV002368169] Chr5:112842565 [GRCh38]
Chr5:112178262 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707344C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538762] Chr5:112707344 [GRCh38]
Chr5:112043041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4339C>T (p.Gln1447Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771243] Chr5:112839933 [GRCh38]
Chr5:112175630 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7203A>T (p.Leu2401=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745326]|Hereditary cancer-predisposing syndrome [RCV002377597] Chr5:112842797 [GRCh38]
Chr5:112178494 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6293A>G (p.Asn2098Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770661] Chr5:112841887 [GRCh38]
Chr5:112177584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-47G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652144] Chr5:112707671 [GRCh38]
Chr5:112043368 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5636C>A (p.Ala1879Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745308] Chr5:112841230 [GRCh38]
Chr5:112176927 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.598A>T (p.Met200Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771195] Chr5:112780856 [GRCh38]
Chr5:112116553 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6603A>G (p.Gly2201=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771325] Chr5:112842197 [GRCh38]
Chr5:112177894 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6307G>A (p.Ala2103Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771012] Chr5:112841901 [GRCh38]
Chr5:112177598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1577T>C (p.Met526Thr) single nucleotide variant not provided [RCV001355835] Chr5:112827957 [GRCh38]
Chr5:112163654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-124_-104dup duplication Familial adenomatous polyposis 1 [RCV003652223] Chr5:112707589..112707590 [GRCh38]
Chr5:112043286..112043287 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707405G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538676] Chr5:112707405 [GRCh38]
Chr5:112043102 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933G>C (p.Lys311Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538702]|Hereditary cancer-predisposing syndrome [RCV003166909] Chr5:112815593 [GRCh38]
Chr5:112151290 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_001127511.3(APC):c.96C>G (p.Ser32Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538664] Chr5:112707813 [GRCh38]
Chr5:112043510 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.818C>T (p.Thr273Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770800] Chr5:112801367 [GRCh38]
Chr5:112137064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3260_3263dup (p.Lys1088fs) duplication Familial adenomatous polyposis 1 [RCV001357052] Chr5:112838853..112838854 [GRCh38]
Chr5:112174550..112174551 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1046_1140del (p.Gln349fs) deletion Carcinoma of colon [RCV001357085] Chr5:112819078..112819172 [GRCh38]
Chr5:112154775..112154869 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6271G>C (p.Gly2091Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242648]|Hereditary cancer-predisposing syndrome [RCV002368195] Chr5:112841865 [GRCh38]
Chr5:112177562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-56G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003771051] Chr5:112707662 [GRCh38]
Chr5:112043359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-2_136-2903del deletion Carcinoma of colon [RCV001355249]|Desmoid tumor [RCV001354698] Chr5:112754889..112763423 [GRCh38]
Chr5:112090586..112099120 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.442del (p.Asp149fs) deletion Familial adenomatous polyposis 1 [RCV001354880] Chr5:112775648 [GRCh38]
Chr5:112111345 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.438T>C (p.Ala146=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236162] Chr5:112775644 [GRCh38]
Chr5:112111341 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2904T>C (p.Ser968=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771347] Chr5:112838498 [GRCh38]
Chr5:112174195 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7556A>G (p.Asp2519Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771154]|Hereditary cancer-predisposing syndrome [RCV002395833] Chr5:112843150 [GRCh38]
Chr5:112178847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3175G>A (p.Glu1059Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744795]|Hereditary cancer-predisposing syndrome [RCV003166672] Chr5:112838769 [GRCh38]
Chr5:112174466 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.114G>C (p.Thr38=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652129] Chr5:112707831 [GRCh38]
Chr5:112043528 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2928_2929del (p.Gly977fs) microsatellite Carcinoma of colon [RCV001357563]|Familial adenomatous polyposis 1 [RCV003771046]|Hereditary cancer-predisposing syndrome [RCV002438825] Chr5:112838520..112838521 [GRCh38]
Chr5:112174217..112174218 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6081C>T (p.Leu2027=) single nucleotide variant Carcinoma of colon [RCV001357776]|Hereditary cancer-predisposing syndrome [RCV002357210] Chr5:112841675 [GRCh38]
Chr5:112177372 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4164_4165del (p.Ser1389fs) deletion Carcinoma of colon [RCV001358255] Chr5:112839758..112839759 [GRCh38]
Chr5:112175455..112175456 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.230T>A (p.Leu77Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001358256]|Hereditary cancer-predisposing syndrome [RCV002432004] Chr5:112767198 [GRCh38]
Chr5:112102895 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.387_388insT (p.Ser130Ter) insertion not provided [RCV001355958] Chr5:112767355..112767356 [GRCh38]
Chr5:112103052..112103053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4333dup (p.Thr1445fs) duplication Familial adenomatous polyposis 1 [RCV002550970]|Familial adenomatous polyposis 1 [RCV003336397]|Hereditary cancer-predisposing syndrome [RCV002329402] Chr5:112839924..112839925 [GRCh38]
Chr5:112175621..112175622 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4395_4396del (p.Ser1465fs) deletion Familial adenomatous polyposis 1 [RCV003538768] Chr5:112839988..112839989 [GRCh38]
Chr5:112175685..112175686 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.839del (p.Gly279_Ser280insTer) deletion Familial adenomatous polyposis 1 [RCV003771246] Chr5:112815499 [GRCh38]
Chr5:112151196 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707485C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538681] Chr5:112707485 [GRCh38]
Chr5:112043182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4217A>T (p.Gln1406Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770679] Chr5:112839811 [GRCh38]
Chr5:112175508 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.580del (p.Arg194fs) deletion not provided [RCV001356505] Chr5:112780837 [GRCh38]
Chr5:112116534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-8A>G single nucleotide variant Carcinoma of colon [RCV001356837]|Familial adenomatous polyposis 1 [RCV003336382]|Familial adenomatous polyposis 1 [RCV003771044]|Hereditary cancer-predisposing syndrome [RCV003382549] Chr5:112775621 [GRCh38]
Chr5:112111318 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.8448A>G (p.Arg2816=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236319] Chr5:112844042 [GRCh38]
Chr5:112179739 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6612A>C (p.Arg2204=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652270] Chr5:112842206 [GRCh38]
Chr5:112177903 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3724C>T (p.Gln1242Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336395] Chr5:112839318 [GRCh38]
Chr5:112175015 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3596A>C (p.Lys1199Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770805] Chr5:112839190 [GRCh38]
Chr5:112174887 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-138C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652207] Chr5:112707580 [GRCh38]
Chr5:112043277 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5575A>G (p.Asn1859Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771176] Chr5:112841169 [GRCh38]
Chr5:112176866 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2528G>T (p.Ser843Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771057] Chr5:112838122 [GRCh38]
Chr5:112173819 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4138A>G (p.Thr1380Ala) single nucleotide variant Carcinoma of colon [RCV001355874]|Familial adenomatous polyposis 1 [RCV003745317] Chr5:112839732 [GRCh38]
Chr5:112175429 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4945dup (p.Ile1649fs) duplication Familial adenomatous polyposis 1 [RCV001356080] Chr5:112840538..112840539 [GRCh38]
Chr5:112176235..112176236 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4142C>G (p.Pro1381Arg) single nucleotide variant Carcinoma of colon [RCV001356081] Chr5:112839736 [GRCh38]
Chr5:112175433 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-203C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538728] Chr5:112707515 [GRCh38]
Chr5:112043212 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1806T>C (p.Asn602=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652238] Chr5:112835013 [GRCh38]
Chr5:112170710 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.69G>T (p.Gly23=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771326] Chr5:112707786 [GRCh38]
Chr5:112043483 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707442C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538717] Chr5:112707442 [GRCh38]
Chr5:112043139 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+4dup duplication Familial adenomatous polyposis 1 [RCV003771060] Chr5:112819347..112819348 [GRCh38]
Chr5:112155044..112155045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-2del deletion Carcinoma of colon [RCV001356307] Chr5:112827106 [GRCh38]
Chr5:112162803 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1374T>C (p.Phe458=) single nucleotide variant Carcinoma of colon [RCV001356551] Chr5:112821957 [GRCh38]
Chr5:112157654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707345del deletion Familial adenomatous polyposis 1 [RCV003538671] Chr5:112707345 [GRCh38]
Chr5:112043042 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2291dup (p.Leu764fs) duplication Hereditary cancer-predisposing syndrome [RCV002447447]|not provided [RCV001358279] Chr5:112837883..112837884 [GRCh38]
Chr5:112173580..112173581 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.4161T>A (p.Cys1387Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538726]|not provided [RCV001358356] Chr5:112839755 [GRCh38]
Chr5:112175452 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.3079del (p.Tyr1027fs) deletion Carcinoma of colon [RCV001358423] Chr5:112838672 [GRCh38]
Chr5:112174369 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.604del (p.Glu202fs) deletion Carcinoma of colon [RCV001358508] Chr5:112780862 [GRCh38]
Chr5:112116559 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7349C>T (p.Pro2450Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745307] Chr5:112842943 [GRCh38]
Chr5:112178640 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7934A>G (p.Tyr2645Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771063] Chr5:112843528 [GRCh38]
Chr5:112179225 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707479C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538730] Chr5:112707479 [GRCh38]
Chr5:112043176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-1G>A single nucleotide variant not provided [RCV001357185] Chr5:112815494 [GRCh38]
Chr5:112151191 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1004T>C (p.Leu335Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771173] Chr5:112819036 [GRCh38]
Chr5:112154733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.156C>A (p.Ser52Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652224] Chr5:112707873 [GRCh38]
Chr5:112043570 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5485A>C (p.Asn1829His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771080]|Hereditary cancer-predisposing syndrome [RCV002350680] Chr5:112841079 [GRCh38]
Chr5:112176776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7931T>G (p.Ile2644Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771081] Chr5:112843525 [GRCh38]
Chr5:112179222 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6387G>C (p.Ser2129=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652261] Chr5:112841981 [GRCh38]
Chr5:112177678 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1826del (p.Val609fs) deletion Familial adenomatous polyposis 1 [RCV002242815] Chr5:112835033 [GRCh38]
Chr5:112170730 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4286A>C (p.Gln1429Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770644] Chr5:112839880 [GRCh38]
Chr5:112175577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7918T>A (p.Ser2640Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770566] Chr5:112843512 [GRCh38]
Chr5:112179209 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2521T>G (p.Leu841Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538669]|Hereditary cancer-predisposing syndrome [RCV002431881] Chr5:112838115 [GRCh38]
Chr5:112173812 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707333del deletion Familial adenomatous polyposis 1 [RCV003652209] Chr5:112707332 [GRCh38]
Chr5:112043029 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7181_7183del (p.Ser2394_Glu2395delinsLys) deletion Familial adenomatous polyposis 1 [RCV002242694] Chr5:112842775..112842777 [GRCh38]
Chr5:112178472..112178474 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2487del (p.Val830fs) deletion Carcinoma of colon [RCV001357757] Chr5:112838081 [GRCh38]
Chr5:112173778 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6439C>G (p.Pro2147Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771175] Chr5:112842033 [GRCh38]
Chr5:112177730 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-2_1743+144del deletion Carcinoma of colon [RCV001358252] Chr5:112821894..112829116 [GRCh38]
Chr5:112157591..112164813 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707396C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745319] Chr5:112707396 [GRCh38]
Chr5:112043093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-105G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002550171] Chr5:112707613 [GRCh38]
Chr5:112043310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4794T>G (p.Ala1598=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652239] Chr5:112840388 [GRCh38]
Chr5:112176085 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.146A>G (p.His49Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538659] Chr5:112707863 [GRCh38]
Chr5:112043560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.383G>C (p.Arg128Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770654]|Hereditary cancer-predisposing syndrome [RCV003346453] Chr5:112767351 [GRCh38]
Chr5:112103048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-133dup duplication Familial adenomatous polyposis 1 [RCV003538738] Chr5:112707584..112707585 [GRCh38]
Chr5:112043281..112043282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-170G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745325] Chr5:112707548 [GRCh38]
Chr5:112043245 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707375A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003771085] Chr5:112707375 [GRCh38]
Chr5:112043072 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2011del (p.Ser671fs) deletion Familial adenomatous polyposis 1 [RCV003337367] Chr5:112837605 [GRCh38]
Chr5:112173302 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4067_4068insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTCCTCCA (p.Ser1356_Gly1357insPhePhePhePhePhePhePhePhePhePhePhePhePheXaaCysTrpPheLysValCysPheIleArgAspTer) insertion Familial adenomatous polyposis 1 [RCV003771244] Chr5:112839661..112839662 [GRCh38]
Chr5:112175358..112175359 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4793_4797del (p.Ala1598fs) deletion Familial adenomatous polyposis 1 [RCV002242816] Chr5:112840387..112840391 [GRCh38]
Chr5:112176084..112176088 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.682A>T (p.Ile228Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770499]|Hereditary cancer-predisposing syndrome [RCV002366122] Chr5:112792482 [GRCh38]
Chr5:112128179 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3831ATC[1] (p.Ser1279del) microsatellite Familial adenomatous polyposis 1 [RCV003462857]|Hereditary cancer-predisposing syndrome [RCV002357084] Chr5:112839425..112839427 [GRCh38]
Chr5:112175122..112175124 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-10G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652210] Chr5:112707708 [GRCh38]
Chr5:112043405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7295C>T (p.Ser2432Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652211]|Hereditary cancer-predisposing syndrome [RCV002384506] Chr5:112842889 [GRCh38]
Chr5:112178586 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.152C>T (p.Ala51Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745323] Chr5:112707869 [GRCh38]
Chr5:112043566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4365_4367del (p.Asn1455del) deletion Familial adenomatous polyposis 1 [RCV003771069] Chr5:112839957..112839959 [GRCh38]
Chr5:112175654..112175656 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3019A>G (p.Lys1007Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242544] Chr5:112838613 [GRCh38]
Chr5:112174310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-3C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002242458] Chr5:112707715 [GRCh38]
Chr5:112043412 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3211C>G (p.Gln1071Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241677]|Hereditary cancer-predisposing syndrome [RCV002447263] Chr5:112838805 [GRCh38]
Chr5:112174502 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.97_112del (p.Cys33fs) deletion Familial adenomatous polyposis 1 [RCV003538740] Chr5:112707814..112707829 [GRCh38]
Chr5:112043511..112043526 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.10T>A (p.Ser4Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550933] Chr5:112707727 [GRCh38]
Chr5:112043424 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707461C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652214] Chr5:112707461 [GRCh38]
Chr5:112043158 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4449A>G (p.Pro1483=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771271] Chr5:112840043 [GRCh38]
Chr5:112175740 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6669A>T (p.Ser2223=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554052] Chr5:112842263 [GRCh38]
Chr5:112177960 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5342A>G (p.Gln1781Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771022] Chr5:112840936 [GRCh38]
Chr5:112176633 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2657A>G (p.Gln886Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770877] Chr5:112838251 [GRCh38]
Chr5:112173948 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-63G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538739] Chr5:112707655 [GRCh38]
Chr5:112043352 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707402A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652232] Chr5:112707402 [GRCh38]
Chr5:112043099 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7427G>C (p.Arg2476Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652215] Chr5:112843021 [GRCh38]
Chr5:112178718 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7853A>T (p.Asn2618Ile) single nucleotide variant APC-related condition [RCV003399187]|Familial adenomatous polyposis 1 [RCV003771209]|Hereditary cancer-predisposing syndrome [RCV003339626] Chr5:112843447 [GRCh38]
Chr5:112179144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6797C>G (p.Thr2266Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770915] Chr5:112842391 [GRCh38]
Chr5:112178088 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8302A>G (p.Ser2768Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002546986]|Hereditary cancer-predisposing syndrome [RCV002431965] Chr5:112843896 [GRCh38]
Chr5:112179593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7692G>C (p.Trp2564Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242334] Chr5:112843286 [GRCh38]
Chr5:112178983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.30C>T (p.Val10=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770935] Chr5:112707747 [GRCh38]
Chr5:112043444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5735C>T (p.Ala1912Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770937] Chr5:112841329 [GRCh38]
Chr5:112177026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5765A>G (p.Gln1922Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242494]|Hereditary cancer-predisposing syndrome [RCV002357187] Chr5:112841359 [GRCh38]
Chr5:112177056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6323C>T (p.Ala2108Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771152] Chr5:112841917 [GRCh38]
Chr5:112177614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5063A>T (p.Asp1688Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771084] Chr5:112840657 [GRCh38]
Chr5:112176354 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8053A>T (p.Ser2685Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771156] Chr5:112843647 [GRCh38]
Chr5:112179344 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3470dup (p.Arg1158fs) duplication Hereditary cancer-predisposing syndrome [RCV002460147]|not provided [RCV001354325] Chr5:112839063..112839064 [GRCh38]
Chr5:112174760..112174761 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.1132G>C (p.Glu378Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242568]|Hereditary cancer-predisposing syndrome [RCV003169826] Chr5:112819164 [GRCh38]
Chr5:112154861 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8056G>A (p.Val2686Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242571] Chr5:112843650 [GRCh38]
Chr5:112179347 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.57dup (p.Ser20fs) duplication Familial adenomatous polyposis 1 [RCV002242575] Chr5:112707771..112707772 [GRCh38]
Chr5:112043468..112043469 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5966A>T (p.Glu1989Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242576] Chr5:112841560 [GRCh38]
Chr5:112177257 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4177C>G (p.Leu1393Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242577] Chr5:112839771 [GRCh38]
Chr5:112175468 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4295C>G (p.Pro1432Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242578] Chr5:112839889 [GRCh38]
Chr5:112175586 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.133C>A (p.Arg45Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771106] Chr5:112707850 [GRCh38]
Chr5:112043547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6572G>A (p.Gly2191Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770992] Chr5:112842166 [GRCh38]
Chr5:112177863 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-128G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538719] Chr5:112707590 [GRCh38]
Chr5:112043287 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2578C>G (p.Leu860Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538641]|Hereditary cancer-predisposing syndrome [RCV002430082]|not provided [RCV001546404] Chr5:112838172 [GRCh38]
Chr5:112173869 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-28G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770513] Chr5:112707690 [GRCh38]
Chr5:112043387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8165T>A (p.Leu2722Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770514] Chr5:112843759 [GRCh38]
Chr5:112179456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707444T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538666] Chr5:112707444 [GRCh38]
Chr5:112043141 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707350C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652131] Chr5:112707350 [GRCh38]
Chr5:112043047 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3648G>T (p.Glu1216Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002541907]|Hereditary cancer-predisposing syndrome [RCV002350537]|not provided [RCV003135929] Chr5:112839242 [GRCh38]
Chr5:112174939 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-185A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003652132] Chr5:112707533 [GRCh38]
Chr5:112043230 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6578_6592del (p.Lys2193_Leu2198delinsMet) deletion Familial adenomatous polyposis 1 [RCV002242486] Chr5:112842172..112842186 [GRCh38]
Chr5:112177869..112177883 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.95A>T (p.Asn32Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242487] Chr5:112754985 [GRCh38]
Chr5:112090682 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707345T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538695] Chr5:112707345 [GRCh38]
Chr5:112043042 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707385G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538697] Chr5:112707385 [GRCh38]
Chr5:112043082 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707383C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745315] Chr5:112707383 [GRCh38]
Chr5:112043080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2629G>A (p.Gly877Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652192] Chr5:112838223 [GRCh38]
Chr5:112173920 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-215G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652193] Chr5:112707503 [GRCh38]
Chr5:112043200 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4536_4538del (p.Asp1512del) deletion Familial adenomatous polyposis 1 [RCV003770966]|Hereditary cancer-predisposing syndrome [RCV002341718] Chr5:112840128..112840130 [GRCh38]
Chr5:112175825..112175827 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.163C>T (p.Gln55Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242500] Chr5:112707880 [GRCh38]
Chr5:112043577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3052G>T (p.Asp1018Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242366] Chr5:112838646 [GRCh38]
Chr5:112174343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8093A>C (p.Lys2698Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770968]|Hereditary cancer-predisposing syndrome [RCV002419024] Chr5:112843687 [GRCh38]
Chr5:112179384 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-142G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538760] Chr5:112707576 [GRCh38]
Chr5:112043273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8239C>T (p.Pro2747Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652229] Chr5:112843833 [GRCh38]
Chr5:112179530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.141T>G (p.Ser47=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652230] Chr5:112707858 [GRCh38]
Chr5:112043555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6278C>A (p.Ser2093Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV001354900] Chr5:112841872 [GRCh38]
Chr5:112177569 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4693G>C (p.Asp1565His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770562] Chr5:112840287 [GRCh38]
Chr5:112175984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-92A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652124] Chr5:112707626 [GRCh38]
Chr5:112043323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.541C>G (p.Gln181Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652202]|Hereditary cancer-predisposing syndrome [RCV002350662] Chr5:112780799 [GRCh38]
Chr5:112116496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707375_112707376delinsGC indel Familial adenomatous polyposis 1 [RCV003538707] Chr5:112707375..112707376 [GRCh38]
Chr5:112043072..112043073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4666A>T (p.Thr1556Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652128]|Hereditary cancer-predisposing syndrome [RCV003166668]|not provided [RCV001751567] Chr5:112840260 [GRCh38]
Chr5:112175957 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-116C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770917] Chr5:112707602 [GRCh38]
Chr5:112043299 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-165G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003770741] Chr5:112707553 [GRCh38]
Chr5:112043250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707487C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770952] Chr5:112707487 [GRCh38]
Chr5:112043184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4475C>A (p.Ala1492Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003473860]|not provided [RCV001776197] Chr5:112840069 [GRCh38]
Chr5:112175766 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3821G>T (p.Cys1274Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242530] Chr5:112839415 [GRCh38]
Chr5:112175112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707331_112707355dup duplication Familial adenomatous polyposis 1 [RCV003652231] Chr5:112707326..112707327 [GRCh38]
Chr5:112043023..112043024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3032C>T (p.Ala1011Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771207]|Hereditary cancer-predisposing syndrome [RCV002438879] Chr5:112838626 [GRCh38]
Chr5:112174323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-2_135+1824del deletion Carcinoma of colon [RCV001356324]|Malignant tumor of breast [RCV001358447] Chr5:112754889..112756849 [GRCh38]
Chr5:112090586..112092546 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.423-3_531+198del deletion Carcinoma of colon [RCV001356566] Chr5:112775626..112775935 [GRCh38]
Chr5:112111323..112111632 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.135+3A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770564] Chr5:112755028 [GRCh38]
Chr5:112090725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8234C>G (p.Pro2745Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770579] Chr5:112843828 [GRCh38]
Chr5:112179525 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-53G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652178] Chr5:112707665 [GRCh38]
Chr5:112043362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707325C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002242433] Chr5:112707325 [GRCh38]
Chr5:112043022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7020C>G (p.Asn2340Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770676] Chr5:112842614 [GRCh38]
Chr5:112178311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.87C>T (p.Gly29=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241985] Chr5:112707804 [GRCh38]
Chr5:112043501 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4562A>G (p.Glu1521Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241729]|not specified [RCV003323849] Chr5:112840156 [GRCh38]
Chr5:112175853 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2908A>G (p.Ser970Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770533] Chr5:112838502 [GRCh38]
Chr5:112174199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7926T>C (p.Thr2642=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770616] Chr5:112843520 [GRCh38]
Chr5:112179217 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.35dup (p.Leu13fs) duplication Familial adenomatous polyposis 1 [RCV003538690] Chr5:112707748..112707749 [GRCh38]
Chr5:112043445..112043446 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2186T>C (p.Leu729Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744797]|Hereditary cancer-predisposing syndrome [RCV002430102] Chr5:112837780 [GRCh38]
Chr5:112173477 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1567A>G (p.Lys523Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770939]|Hereditary cancer-predisposing syndrome [RCV002404804] Chr5:112827947 [GRCh38]
Chr5:112163644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-164G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002546994] Chr5:112707554 [GRCh38]
Chr5:112043251 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1644G>C (p.Leu548Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770958] Chr5:112828873 [GRCh38]
Chr5:112164570 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165G>C (p.Gln55His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745316] Chr5:112707882 [GRCh38]
Chr5:112043579 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.957G>A (p.Leu319=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652119]|Hereditary cancer-predisposing syndrome [RCV003339580]|not provided [RCV001284729] Chr5:112818989 [GRCh38]
Chr5:112154686 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.78C>G (p.Ser26Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242581] Chr5:112707795 [GRCh38]
Chr5:112043492 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-41G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538744] Chr5:112707677 [GRCh38]
Chr5:112043374 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7321T>A (p.Ser2441Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770565] Chr5:112842915 [GRCh38]
Chr5:112178612 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4993C>T (p.Pro1665Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770568]|Hereditary cancer-predisposing syndrome [RCV003365312] Chr5:112840587 [GRCh38]
Chr5:112176284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707455A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744800] Chr5:112707455 [GRCh38]
Chr5:112043152 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707420C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652125] Chr5:112707420 [GRCh38]
Chr5:112043117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2630G>T (p.Gly877Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538722] Chr5:112838224 [GRCh38]
Chr5:112173921 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.92G>A (p.Arg31Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538644] Chr5:112707809 [GRCh38]
Chr5:112043506 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-111G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538708] Chr5:112707607 [GRCh38]
Chr5:112043304 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.471G>C (p.Trp157Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744802]|Hereditary cancer-predisposing syndrome [RCV002341619] Chr5:112775677 [GRCh38]
Chr5:112111374 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-40G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002541887] Chr5:112707678 [GRCh38]
Chr5:112043375 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.3413A>G (p.Asp1138Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242268]|Hereditary cancer-predisposing syndrome [RCV002329286] Chr5:112839007 [GRCh38]
Chr5:112174704 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2015A>G (p.His672Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770745] Chr5:112837609 [GRCh38]
Chr5:112173306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3917A>G (p.Glu1306Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770746] Chr5:112839511 [GRCh38]
Chr5:112175208 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-33A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652189] Chr5:112707685 [GRCh38]
Chr5:112043382 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6544G>A (p.Glu2182Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770959]|Hereditary cancer-predisposing syndrome [RCV002368138] Chr5:112842138 [GRCh38]
Chr5:112177835 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1192A>G (p.Lys398Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770760] Chr5:112819224 [GRCh38]
Chr5:112154921 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+6T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003770970]|not provided [RCV002476594] Chr5:112766416 [GRCh38]
Chr5:112102113 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-35G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003652226] Chr5:112707683 [GRCh38]
Chr5:112043380 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5903C>T (p.Ser1968Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538732] Chr5:112841497 [GRCh38]
Chr5:112177194 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4949A>G (p.Asn1650Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242518]|Hereditary cancer-predisposing syndrome [RCV002341747] Chr5:112840543 [GRCh38]
Chr5:112176240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422G>C (p.Arg141Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771110] Chr5:112767390 [GRCh38]
Chr5:112103087 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-102C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538745] Chr5:112707616 [GRCh38]
Chr5:112043313 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+10_165+18del deletion Familial adenomatous polyposis 1 [RCV003771015] Chr5:112707892..112707900 [GRCh38]
Chr5:112043589..112043597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-174C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002242291] Chr5:112707544 [GRCh38]
Chr5:112043241 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-44G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652183] Chr5:112707674 [GRCh38]
Chr5:112043371 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.742A>G (p.Asn248Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770517] Chr5:112801291 [GRCh38]
Chr5:112136988 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8362_8363del (p.Pro2788fs) deletion Familial adenomatous polyposis 1 [RCV003770603] Chr5:112843955..112843956 [GRCh38]
Chr5:112179652..112179653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3591C>G (p.Phe1197Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538712]|Hereditary cancer-predisposing syndrome [RCV003584901] Chr5:112839185 [GRCh38]
Chr5:112174882 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.26C>A (p.Pro9Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002546917] Chr5:112707743 [GRCh38]
Chr5:112043440 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8036C>A (p.Thr2679Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770941]|Hereditary cancer-predisposing syndrome [RCV002419014] Chr5:112843630 [GRCh38]
Chr5:112179327 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1354G>T (p.Val452Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770942] Chr5:112821937 [GRCh38]
Chr5:112157634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.244T>C (p.Phe82Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242273] Chr5:112767212 [GRCh38]
Chr5:112102909 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-169G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538699] Chr5:112707549 [GRCh38]
Chr5:112043246 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.98_99delinsTT (p.Cys33Phe) indel Familial adenomatous polyposis 1 [RCV003652174] Chr5:112707815..112707816 [GRCh38]
Chr5:112043512..112043513 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2427T>C (p.Asn809=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242454]|Hereditary cancer-predisposing syndrome [RCV002447456] Chr5:112838021 [GRCh38]
Chr5:112173718 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.-136G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538761] Chr5:112707582 [GRCh38]
Chr5:112043279 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-36A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002242751] Chr5:112707682 [GRCh38]
Chr5:112043379 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7736A>G (p.Glu2579Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771188] Chr5:112843330 [GRCh38]
Chr5:112179027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6937G>A (p.Ala2313Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003462928] Chr5:112842531 [GRCh38]
Chr5:112178228 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-165G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770663] Chr5:112707553 [GRCh38]
Chr5:112043250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2950G>A (p.Glu984Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003469518] Chr5:112838544 [GRCh38]
Chr5:112174241 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1393dup (p.Ala465fs) duplication not provided [RCV001269752] Chr5:112821975..112821976 [GRCh38]
Chr5:112157672..112157673 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2555T>A (p.Leu852Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337364]|Hereditary cancer-predisposing syndrome [RCV002430066]|not provided [RCV001269929] Chr5:112838149 [GRCh38]
Chr5:112173846 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2627G>T (p.Arg876Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242080] Chr5:112838221 [GRCh38]
Chr5:112173918 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112162795)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV002242105] Chr5:112162795..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112151175)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV002242271] Chr5:112151175..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112043009)_(112115548_?)dup duplication Familial adenomatous polyposis 1 [RCV001322046] Chr5:112043009..112115548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.65T>C (p.Leu22Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002547025] Chr5:112707782 [GRCh38]
Chr5:112043479 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.129C>T (p.Gly43=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002547439] Chr5:112707846 [GRCh38]
Chr5:112043543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.353T>G (p.Phe118Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770752] Chr5:112767321 [GRCh38]
Chr5:112103018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5219C>T (p.Pro1740Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242348] Chr5:112840813 [GRCh38]
Chr5:112176510 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3316G>A (p.Gly1106Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242360]|Hereditary cancer-predisposing syndrome [RCV002456498] Chr5:112838910 [GRCh38]
Chr5:112174607 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707338T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003770961] Chr5:112707338 [GRCh38]
Chr5:112043035 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5182A>G (p.Ile1728Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770962]|Hereditary cancer-predisposing syndrome [RCV002341716] Chr5:112840776 [GRCh38]
Chr5:112176473 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-146C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002547068] Chr5:112707572 [GRCh38]
Chr5:112043269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.145C>T (p.His49Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538714] Chr5:112707862 [GRCh38]
Chr5:112043559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-160G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538735] Chr5:112707558 [GRCh38]
Chr5:112043255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-199C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003771072] Chr5:112707519 [GRCh38]
Chr5:112043216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3508A>C (p.Lys1170Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242542] Chr5:112839102 [GRCh38]
Chr5:112174799 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-103G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002242665] Chr5:112707615 [GRCh38]
Chr5:112043312 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.63T>G (p.Val21=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652216] Chr5:112707780 [GRCh38]
Chr5:112043477 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-196C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003154026] Chr5:112707522 [GRCh38]
Chr5:112043219 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4939A>G (p.Thr1647Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771089] Chr5:112840533 [GRCh38]
Chr5:112176230 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6764C>G (p.Thr2255Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242741] Chr5:112842358 [GRCh38]
Chr5:112178055 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-203C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538756] Chr5:112707515 [GRCh38]
Chr5:112043212 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6784A>G (p.Ser2262Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771155] Chr5:112842378 [GRCh38]
Chr5:112178075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-154G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002538441] Chr5:112707564 [GRCh38]
Chr5:112043261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1607A>G (p.Glu536Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771016] Chr5:112827987 [GRCh38]
Chr5:112163684 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1085del (p.Gly362fs) deletion not provided [RCV001270019] Chr5:112819116 [GRCh38]
Chr5:112154813 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.344T>A (p.Met115Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242221]|Hereditary cancer-predisposing syndrome [RCV002460145] Chr5:112767312 [GRCh38]
Chr5:112103009 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6721T>G (p.Ser2241Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770944] Chr5:112842315 [GRCh38]
Chr5:112178012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-11C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002242106] Chr5:112707707 [GRCh38]
Chr5:112043404 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.117G>C (p.Lys39Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770747] Chr5:112707834 [GRCh38]
Chr5:112043531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8086G>C (p.Asp2696His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770945]|Hereditary cancer-predisposing syndrome [RCV002419015] Chr5:112843680 [GRCh38]
Chr5:112179377 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2339G>T (p.Ser780Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770748]|Hereditary cancer-predisposing syndrome [RCV002456442] Chr5:112837933 [GRCh38]
Chr5:112173630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.40C>T (p.Pro14Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770954] Chr5:112707757 [GRCh38]
Chr5:112043454 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-8C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002543857] Chr5:112707710 [GRCh38]
Chr5:112043407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+16G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538700] Chr5:112707898 [GRCh38]
Chr5:112043595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6008A>G (p.Gln2003Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770762] Chr5:112841602 [GRCh38]
Chr5:112177299 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7720C>G (p.Leu2574Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770977] Chr5:112843314 [GRCh38]
Chr5:112179011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7258T>G (p.Ser2420Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770978]|Hereditary cancer-predisposing syndrome [RCV002377475] Chr5:112842852 [GRCh38]
Chr5:112178549 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-89T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770979] Chr5:112707629 [GRCh38]
Chr5:112043326 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3956C>T (p.Pro1319Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538715] Chr5:112839550 [GRCh38]
Chr5:112175247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.46T>G (p.Ser16Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002547458] Chr5:112707763 [GRCh38]
Chr5:112043460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-91G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652213] Chr5:112707627 [GRCh38]
Chr5:112043324 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.552G>A (p.Met184Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771191] Chr5:112780810 [GRCh38]
Chr5:112116507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5213A>G (p.His1738Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771192]|Hereditary cancer-predisposing syndrome [RCV003339624] Chr5:112840807 [GRCh38]
Chr5:112176504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2089G>A (p.Ala697Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538685] Chr5:112837683 [GRCh38]
Chr5:112173380 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4909G>A (p.Asp1637Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538713] Chr5:112840503 [GRCh38]
Chr5:112176200 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7793C>G (p.Thr2598Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770925] Chr5:112843387 [GRCh38]
Chr5:112179084 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-90G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003770728] Chr5:112707628 [GRCh38]
Chr5:112043325 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4021A>G (p.Ser1341Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652190]|not provided [RCV001762582] Chr5:112839615 [GRCh38]
Chr5:112175312 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6026C>A (p.Pro2009His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770964] Chr5:112841620 [GRCh38]
Chr5:112177317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-142G>A single nucleotide variant Desmoid disease, hereditary [RCV002476597]|Familial adenomatous polyposis 1 [RCV002242377] Chr5:112707576 [GRCh38]
Chr5:112043273 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-200C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003771194] Chr5:112707518 [GRCh38]
Chr5:112043215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-131_-130insC insertion Familial adenomatous polyposis 1 [RCV003538742] Chr5:112707587..112707588 [GRCh38]
Chr5:112043284..112043285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707379C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538763] Chr5:112707379 [GRCh38]
Chr5:112043076 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-2_1958+1del deletion Carcinoma of colon [RCV001355667] Chr5:112834949..112835166 [GRCh38]
Chr5:112170646..112170863 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1327G>C (p.Glu443Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003469610]|Hereditary cancer-predisposing syndrome [RCV002384533] Chr5:112821910 [GRCh38]
Chr5:112157607 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-170G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002241843] Chr5:112707548 [GRCh38]
Chr5:112043245 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3509A>C (p.Lys1170Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002546051]|Hereditary cancer-predisposing syndrome [RCV002456420] Chr5:112839103 [GRCh38]
Chr5:112174800 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1908_1909dup (p.Gly637fs) duplication Familial adenomatous polyposis 1 [RCV001310090]|Familial adenomatous polyposis 1 [RCV003336375] Chr5:112835113..112835114 [GRCh38]
Chr5:112170810..112170811 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2743del (p.Cys914_Val915insTer) deletion Familial adenomatous polyposis 1 [RCV001310091] Chr5:112838337 [GRCh38]
Chr5:112174034 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3991A>T (p.Arg1331Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001310092] Chr5:112839585 [GRCh38]
Chr5:112175282 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1845T>G (p.Phe615Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242063] Chr5:112835052 [GRCh38]
Chr5:112170749 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5994A>T (p.Glu1998Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770552] Chr5:112841588 [GRCh38]
Chr5:112177285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2566C>G (p.Arg856Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003153991]|Hereditary cancer-predisposing syndrome [RCV003294284] Chr5:112838160 [GRCh38]
Chr5:112173857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-141C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770927] Chr5:112707577 [GRCh38]
Chr5:112043274 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8404C>T (p.Pro2802Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770928] Chr5:112843998 [GRCh38]
Chr5:112179695 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-200C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652172] Chr5:112707518 [GRCh38]
Chr5:112043215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2860T>A (p.Leu954Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770980]|Hereditary cancer-predisposing syndrome [RCV003346504] Chr5:112838454 [GRCh38]
Chr5:112174151 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4645C>A (p.Gln1549Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770981] Chr5:112840239 [GRCh38]
Chr5:112175936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-70A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652227] Chr5:112707648 [GRCh38]
Chr5:112043345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4721T>C (p.Ile1574Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538736] Chr5:112840315 [GRCh38]
Chr5:112176012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-182G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538737]|not specified [RCV003320831] Chr5:112707536 [GRCh38]
Chr5:112043233 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-72C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003771091] Chr5:112707646 [GRCh38]
Chr5:112043343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4022_4026del (p.Ser1341fs) deletion not provided [RCV001356044] Chr5:112839614..112839618 [GRCh38]
Chr5:112175311..112175315 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6061_6062dup (p.Arg2023fs) duplication not provided [RCV001356472] Chr5:112841653..112841654 [GRCh38]
Chr5:112177350..112177351 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3546A>T (p.Lys1182Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538758] Chr5:112839140 [GRCh38]
Chr5:112174837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-133del deletion Familial adenomatous polyposis 1 [RCV002242285] Chr5:112707585 [GRCh38]
Chr5:112043282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8221G>A (p.Gly2741Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770522]|Hereditary cancer-predisposing syndrome [RCV003294215] Chr5:112843815 [GRCh38]
Chr5:112179512 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1127G>A (p.Ser376Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241967] Chr5:112819159 [GRCh38]
Chr5:112154856 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4744G>A (p.Ala1582Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242014] Chr5:112840338 [GRCh38]
Chr5:112176035 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707451C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003770696] Chr5:112707451 [GRCh38]
Chr5:112043148 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707340A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652150] Chr5:112707340 [GRCh38]
Chr5:112043037 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707469G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002241896] Chr5:112707469 [GRCh38]
Chr5:112043166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-168G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652137] Chr5:112707550 [GRCh38]
Chr5:112043247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7712C>T (p.Ser2571Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770553] Chr5:112843306 [GRCh38]
Chr5:112179003 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-82G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652194] Chr5:112707636 [GRCh38]
Chr5:112043333 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7121G>A (p.Ser2374Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745324] Chr5:112842715 [GRCh38]
Chr5:112178412 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5834C>T (p.Ala1945Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538764] Chr5:112841428 [GRCh38]
Chr5:112177125 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7669T>C (p.Ser2557Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242228] Chr5:112843263 [GRCh38]
Chr5:112178960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707397G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538705] Chr5:112707397 [GRCh38]
Chr5:112043094 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-82G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002242054] Chr5:112707636 [GRCh38]
Chr5:112043333 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6881G>C (p.Gly2294Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242472]|Hereditary cancer-predisposing syndrome [RCV003284223] Chr5:112842475 [GRCh38]
Chr5:112178172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707362T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003652165] Chr5:112707362 [GRCh38]
Chr5:112043059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6559G>A (p.Gly2187Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770554] Chr5:112842153 [GRCh38]
Chr5:112177850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-92A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770555] Chr5:112707626 [GRCh38]
Chr5:112043323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8474C>T (p.Ser2825Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770931] Chr5:112844068 [GRCh38]
Chr5:112179765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-140C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770982] Chr5:112707578 [GRCh38]
Chr5:112043275 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-71del deletion Familial adenomatous polyposis 1 [RCV002242384] Chr5:112707645 [GRCh38]
Chr5:112043342 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6338G>C (p.Ser2113Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770984] Chr5:112841932 [GRCh38]
Chr5:112177629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6389C>T (p.Ser2130Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770985] Chr5:112841983 [GRCh38]
Chr5:112177680 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-86G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002242562] Chr5:112707632 [GRCh38]
Chr5:112043329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7472T>G (p.Met2491Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538743]|Hereditary cancer-predisposing syndrome [RCV002395813] Chr5:112843066 [GRCh38]
Chr5:112178763 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.166-28467del deletion not provided [RCV001358194] Chr5:112737859 [GRCh38]
Chr5:112073556 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1409-2_1548+79del deletion not provided [RCV001358278] Chr5:112827105..112827325 [GRCh38]
Chr5:112162802..112163022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6631G>C (p.Gly2211Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770778] Chr5:112842225 [GRCh38]
Chr5:112177922 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-109_-108delinsTG indel Familial adenomatous polyposis 1 [RCV003744794] Chr5:112707609..112707610 [GRCh38]
Chr5:112043306..112043307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.77G>A (p.Ser26Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770597] Chr5:112707794 [GRCh38]
Chr5:112043491 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5122G>C (p.Val1708Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241885]|Hereditary cancer-predisposing syndrome [RCV002341616] Chr5:112840716 [GRCh38]
Chr5:112176413 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8087A>T (p.Asp2696Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770682] Chr5:112843681 [GRCh38]
Chr5:112179378 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4105C>G (p.Pro1369Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770684] Chr5:112839699 [GRCh38]
Chr5:112175396 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2514A>C (p.Arg838Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002543224] Chr5:112838108 [GRCh38]
Chr5:112173805 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-141C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652159] Chr5:112707577 [GRCh38]
Chr5:112043274 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.125C>A (p.Ser42Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770700] Chr5:112755015 [GRCh38]
Chr5:112090712 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-21T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002241735] Chr5:112707697 [GRCh38]
Chr5:112043394 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707431T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652133] Chr5:112707431 [GRCh38]
Chr5:112043128 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7500G>A (p.Gln2500=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652134] Chr5:112843094 [GRCh38]
Chr5:112178791 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4141C>T (p.Pro1381Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770714]|Hereditary cancer-predisposing syndrome [RCV002329281] Chr5:112839735 [GRCh38]
Chr5:112175432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4G>A (p.Ala2Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770735] Chr5:112754894 [GRCh38]
Chr5:112090591 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-154G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002546977] Chr5:112707564 [GRCh38]
Chr5:112043261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-59T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652141] Chr5:112707659 [GRCh38]
Chr5:112043356 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8207C>G (p.Thr2736Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550929]|Familial adenomatous polyposis 1 [RCV003652228]|Hereditary cancer-predisposing syndrome [RCV002413898] Chr5:112843801 [GRCh38]
Chr5:112179498 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5419G>C (p.Asp1807His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548538] Chr5:112841013 [GRCh38]
Chr5:112176710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4781C>T (p.Pro1594Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771056]|Hereditary cancer-predisposing syndrome [RCV002341750]|not provided [RCV001751701] Chr5:112840375 [GRCh38]
Chr5:112176072 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-139G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652160] Chr5:112707579 [GRCh38]
Chr5:112043276 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8080A>C (p.Ile2694Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652166] Chr5:112843674 [GRCh38]
Chr5:112179371 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2873G>T (p.Arg958Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242093] Chr5:112838467 [GRCh38]
Chr5:112174164 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3324T>G (p.Asn1108Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770736]|Inborn genetic diseases [RCV003284189] Chr5:112838918 [GRCh38]
Chr5:112174615 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707480A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770933] Chr5:112707480 [GRCh38]
Chr5:112043177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134_-133delinsCG indel Familial adenomatous polyposis 1 [RCV003538693] Chr5:112707584..112707585 [GRCh38]
Chr5:112043281..112043282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1307A>G (p.Asn436Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538698]|not provided [RCV001800981] Chr5:112819339 [GRCh38]
Chr5:112155036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707447C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652173] Chr5:112707447 [GRCh38]
Chr5:112043144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-186G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002242352] Chr5:112707532 [GRCh38]
Chr5:112043229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5555C>G (p.Thr1852Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652195] Chr5:112841149 [GRCh38]
Chr5:112176846 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-210C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003771077] Chr5:112707508 [GRCh38]
Chr5:112043205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-60G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002547731] Chr5:112707658 [GRCh38]
Chr5:112043355 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6205G>C (p.Gly2069Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771180]|Hereditary cancer-predisposing syndrome [RCV002368197] Chr5:112841799 [GRCh38]
Chr5:112177496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3848C>T (p.Ala1283Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242038] Chr5:112839442 [GRCh38]
Chr5:112175139 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707427C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002543864] Chr5:112707427 [GRCh38]
Chr5:112043124 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-114C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003770780] Chr5:112707604 [GRCh38]
Chr5:112043301 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.713A>G (p.Gln238Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770689]|not specified [RCV002271640] Chr5:112792513 [GRCh38]
Chr5:112128210 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4343C>G (p.Thr1448Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538710] Chr5:112839937 [GRCh38]
Chr5:112175634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5572C>A (p.Arg1858=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770613] Chr5:112841166 [GRCh38]
Chr5:112176863 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5201_5202delinsGT (p.Lys1734Ser) indel Familial adenomatous polyposis 1 [RCV003770702] Chr5:112840795..112840796 [GRCh38]
Chr5:112176492..112176493 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.688C>G (p.Arg230Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770529] Chr5:112792488 [GRCh38]
Chr5:112128185 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.560G>A (p.Arg187Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770530] Chr5:112780818 [GRCh38]
Chr5:112116515 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-144T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003770897] Chr5:112707574 [GRCh38]
Chr5:112043271 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8321G>T (p.Ser2774Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770717] Chr5:112843915 [GRCh38]
Chr5:112179612 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707408C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538687] Chr5:112707408 [GRCh38]
Chr5:112043105 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2452A>T (p.Asn818Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538688] Chr5:112838046 [GRCh38]
Chr5:112173743 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.7G>A (p.Ala3Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538694] Chr5:112707724 [GRCh38]
Chr5:112043421 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3059A>C (p.Glu1020Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770934]|Hereditary cancer-predisposing syndrome [RCV002447408] Chr5:112838653 [GRCh38]
Chr5:112174350 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2789C>T (p.Thr930Ile) single nucleotide variant Carcinoma of colon [RCV001357342]|Familial adenomatous polyposis 1 [RCV003652171] Chr5:112838383 [GRCh38]
Chr5:112174080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-155C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003770756] Chr5:112707563 [GRCh38]
Chr5:112043260 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.156A>C (p.Gln52His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771151] Chr5:112766346 [GRCh38]
Chr5:112102043 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.20C>T (p.Ser7Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538640] Chr5:112707737 [GRCh38]
Chr5:112043434 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-29A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003771010] Chr5:112707689 [GRCh38]
Chr5:112043386 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.49G>A (p.Val17Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770498] Chr5:112707766 [GRCh38]
Chr5:112043463 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707485C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538660] Chr5:112707485 [GRCh38]
Chr5:112043182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-7_-6delinsAA indel Familial adenomatous polyposis 1 [RCV003652147] Chr5:112707711..112707712 [GRCh38]
Chr5:112043408..112043409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5943T>A (p.Asn1981Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002543727] Chr5:112841537 [GRCh38]
Chr5:112177234 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.25C>T (p.Pro9Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652130] Chr5:112707742 [GRCh38]
Chr5:112043439 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-104A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652162] Chr5:112707614 [GRCh38]
Chr5:112043311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7531C>G (p.Leu2511Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652151] Chr5:112843125 [GRCh38]
Chr5:112178822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707346G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003770951] Chr5:112707346 [GRCh38]
Chr5:112043043 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.229T>G (p.Leu77Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002547037]|Hereditary cancer-predisposing syndrome [RCV002456495] Chr5:112767197 [GRCh38]
Chr5:112102894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-13C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652191] Chr5:112707705 [GRCh38]
Chr5:112043402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-193G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003771082] Chr5:112707525 [GRCh38]
Chr5:112043222 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707459T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003745318] Chr5:112707459 [GRCh38]
Chr5:112043156 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.59C>G (p.Ser20Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652218] Chr5:112707776 [GRCh38]
Chr5:112043473 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3358G>A (p.Gly1120Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771103]|Hereditary cancer-predisposing syndrome [RCV003169834] Chr5:112838952 [GRCh38]
Chr5:112174649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8126G>A (p.Gly2709Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241819] Chr5:112843720 [GRCh38]
Chr5:112179417 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-88T>G single nucleotide variant Desmoid disease, hereditary [RCV002504468]|Familial adenomatous polyposis 1 [RCV003652149] Chr5:112707630 [GRCh38]
Chr5:112043327 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707361C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003154002] Chr5:112707361 [GRCh38]
Chr5:112043058 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.640G>T (p.Ala214Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241982] Chr5:112780898 [GRCh38]
Chr5:112116595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7954T>G (p.Ser2652Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538647] Chr5:112843548 [GRCh38]
Chr5:112179245 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.782A>G (p.Asn261Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002543750] Chr5:112801331 [GRCh38]
Chr5:112137028 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.41C>T (p.Pro14Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538750] Chr5:112707758 [GRCh38]
Chr5:112043455 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5809T>G (p.Ser1937Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242722] Chr5:112841403 [GRCh38]
Chr5:112177100 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707370C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003154021] Chr5:112707370 [GRCh38]
Chr5:112043067 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707422C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652142] Chr5:112707422 [GRCh38]
Chr5:112043119 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.86A>G (p.Asp29Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241673] Chr5:112754976 [GRCh38]
Chr5:112090673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707458C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003652198] Chr5:112707458 [GRCh38]
Chr5:112043155 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.66C>A (p.Leu22=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538674] Chr5:112707783 [GRCh38]
Chr5:112043480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2038G>A (p.Ala680Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241687] Chr5:112837632 [GRCh38]
Chr5:112173329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-155C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652126] Chr5:112707563 [GRCh38]
Chr5:112043260 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4268_4271del (p.Leu1423fs) deletion not provided [RCV001356487] Chr5:112839861..112839864 [GRCh38]
Chr5:112175558..112175561 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707406C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538667] Chr5:112707406 [GRCh38]
Chr5:112043103 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707401_112707404dup duplication Familial adenomatous polyposis 1 [RCV003538751] Chr5:112707400..112707401 [GRCh38]
Chr5:112043097..112043098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707470G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002547851] Chr5:112707470 [GRCh38]
Chr5:112043167 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707361_112707362delinsGG indel Familial adenomatous polyposis 1 [RCV002242604] Chr5:112707361..112707362 [GRCh38]
Chr5:112043058..112043059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6384T>G (p.Ala2128=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538779] Chr5:112841978 [GRCh38]
Chr5:112177675 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4711G>C (p.Asp1571His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538675]|Hereditary cancer-predisposing syndrome [RCV002341636] Chr5:112840305 [GRCh38]
Chr5:112176002 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6374C>A (p.Ser2125Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241849] Chr5:112841968 [GRCh38]
Chr5:112177665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6047A>T (p.Asp2016Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770882]|Hereditary cancer-predisposing syndrome [RCV003584900]|not specified [RCV002222699] Chr5:112841641 [GRCh38]
Chr5:112177338 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.841dup (p.Thr281fs) duplication Familial adenomatous polyposis 1 [RCV003337366]|not provided [RCV001356912] Chr5:112815499..112815500 [GRCh38]
Chr5:112151196..112151197 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.2464C>T (p.Leu822Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538759] Chr5:112838058 [GRCh38]
Chr5:112173755 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6656C>G (p.Ala2219Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771172] Chr5:112842250 [GRCh38]
Chr5:112177947 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4688T>C (p.Leu1563Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242517]|Hereditary cancer-predisposing syndrome [RCV002341746]|not provided [RCV003238358] Chr5:112840282 [GRCh38]
Chr5:112175979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1460G>A (p.Gly487Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241988]|Hereditary cancer-predisposing syndrome [RCV002395683] Chr5:112827159 [GRCh38]
Chr5:112162856 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5600T>A (p.Phe1867Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241989] Chr5:112841194 [GRCh38]
Chr5:112176891 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4826C>A (p.Pro1609Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770528] Chr5:112840420 [GRCh38]
Chr5:112176117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707445A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002545024] Chr5:112707445 [GRCh38]
Chr5:112043142 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4877C>A (p.Pro1626His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242212]|Hereditary cancer-predisposing syndrome [RCV002341697] Chr5:112840471 [GRCh38]
Chr5:112176168 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1249T>G (p.Cys417Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771182]|Hereditary cancer-predisposing syndrome [RCV002404885] Chr5:112819281 [GRCh38]
Chr5:112154978 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.42C>T (p.Pro14=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745320] Chr5:112707759 [GRCh38]
Chr5:112043456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2155G>C (p.Ala719Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771122] Chr5:112837749 [GRCh38]
Chr5:112173446 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.374A>G (p.Asn125Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771123] Chr5:112767342 [GRCh38]
Chr5:112103039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8435A>G (p.Asn2812Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538752] Chr5:112844029 [GRCh38]
Chr5:112179726 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4095T>G (p.Gly1365=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652260]|Hereditary cancer-predisposing syndrome [RCV002322416] Chr5:112839689 [GRCh38]
Chr5:112175386 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4558G>C (p.Val1520Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241682]|Hereditary cancer-predisposing syndrome [RCV003584880] Chr5:112840152 [GRCh38]
Chr5:112175849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6610C>G (p.Arg2204Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002547515]|Hereditary cancer-predisposing syndrome [RCV002368153]|not specified [RCV003320828] Chr5:112842204 [GRCh38]
Chr5:112177901 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NC_000005.10:g.112707481_112707483del deletion Familial adenomatous polyposis 1 [RCV003538657] Chr5:112707479..112707481 [GRCh38]
Chr5:112043176..112043178 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1088A>G (p.Asn363Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770494]|Hereditary cancer-predisposing syndrome [RCV003355358]|not provided [RCV001776178] Chr5:112819120 [GRCh38]
Chr5:112154817 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3026del (p.His1009fs) deletion Carcinoma of colon [RCV001357951] Chr5:112838620 [GRCh38]
Chr5:112174317 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707342T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003770675] Chr5:112707342 [GRCh38]
Chr5:112043039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707435G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002543744] Chr5:112707435 [GRCh38]
Chr5:112043132 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2419G>C (p.Asp807His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770701] Chr5:112838013 [GRCh38]
Chr5:112173710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707407C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002242529] Chr5:112707407 [GRCh38]
Chr5:112043104 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.90C>T (p.Ser30=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002547746] Chr5:112707807 [GRCh38]
Chr5:112043504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6446A>T (p.His2149Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771064] Chr5:112842040 [GRCh38]
Chr5:112177737 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1141G>T (p.Ala381Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003444845] Chr5:112819173 [GRCh38]
Chr5:112154870 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707406C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002550060] Chr5:112707406 [GRCh38]
Chr5:112043103 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-178G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538753] Chr5:112707540 [GRCh38]
Chr5:112043237 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-132_-131insT insertion Familial adenomatous polyposis 1 [RCV003538780] Chr5:112707586..112707587 [GRCh38]
Chr5:112043283..112043284 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-143A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538658] Chr5:112707575 [GRCh38]
Chr5:112043272 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4144C>T (p.Leu1382Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538703] Chr5:112839738 [GRCh38]
Chr5:112175435 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-137T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002547517] Chr5:112707581 [GRCh38]
Chr5:112043278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4606G>T (p.Glu1536Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336384]|not provided [RCV001358112] Chr5:112840200 [GRCh38]
Chr5:112175897 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_001127511.3(APC):c.-87G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002547724] Chr5:112707631 [GRCh38]
Chr5:112043328 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-131_-130insT insertion Familial adenomatous polyposis 1 [RCV003538646] Chr5:112707587..112707588 [GRCh38]
Chr5:112043284..112043285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8032A>G (p.Asn2678Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241996]|Hereditary cancer-predisposing syndrome [RCV003166843] Chr5:112843626 [GRCh38]
Chr5:112179323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2842T>G (p.Ser948Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003473888] Chr5:112838436 [GRCh38]
Chr5:112174133 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-6A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538754] Chr5:112775623 [GRCh38]
Chr5:112111320 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707487C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002550064] Chr5:112707487 [GRCh38]
Chr5:112043184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134_-133insGGGG insertion Familial adenomatous polyposis 1 [RCV002242044] Chr5:112707584..112707585 [GRCh38]
Chr5:112043281..112043282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-10G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538723] Chr5:112707708 [GRCh38]
Chr5:112043405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7883A>T (p.Gln2628Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770899]|Hereditary cancer-predisposing syndrome [RCV003346493] Chr5:112843477 [GRCh38]
Chr5:112179174 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.206T>C (p.Leu69Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771128]|not provided [RCV001776229] Chr5:112766396 [GRCh38]
Chr5:112102093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.362G>C (p.Arg121Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771129] Chr5:112767330 [GRCh38]
Chr5:112103027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.133C>G (p.Arg45Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652220] Chr5:112707850 [GRCh38]
Chr5:112043547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-94C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745321] Chr5:112707624 [GRCh38]
Chr5:112043321 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_001127511.3(APC):c.109G>A (p.Glu37Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745322] Chr5:112707826 [GRCh38]
Chr5:112043523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1582G>T (p.Ala528Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770581]|Hereditary cancer-predisposing syndrome [RCV002402855] Chr5:112827962 [GRCh38]
Chr5:112163659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4537G>C (p.Glu1513Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002537929]|Familial adenomatous polyposis 1 [RCV003744791]|not provided [RCV001283860] Chr5:112840131 [GRCh38]
Chr5:112175828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.9C>T (p.Ala3=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652148] Chr5:112707726 [GRCh38]
Chr5:112043423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3433G>A (p.Glu1145Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771131] Chr5:112839027 [GRCh38]
Chr5:112174724 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2936_2938dup (p.Met979dup) duplication Familial adenomatous polyposis 1 [RCV003770667] Chr5:112838528..112838529 [GRCh38]
Chr5:112174225..112174226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4434G>T (p.Arg1478Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771134] Chr5:112840028 [GRCh38]
Chr5:112175725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.642A>G (p.Ala214=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771320] Chr5:112780900 [GRCh38]
Chr5:112116597 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.125G>C (p.Gly42Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242294] Chr5:112707842 [GRCh38]
Chr5:112043539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.114G>T (p.Thr38=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652221] Chr5:112707831 [GRCh38]
Chr5:112043528 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.25C>G (p.Pro9Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652222] Chr5:112707742 [GRCh38]
Chr5:112043439 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7241T>C (p.Val2414Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242171] Chr5:112842835 [GRCh38]
Chr5:112178532 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5310G>T (p.Lys1770Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770884]|Hereditary cancer-predisposing syndrome [RCV003169596] Chr5:112840904 [GRCh38]
Chr5:112176601 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.146del (p.His49fs) deletion Familial adenomatous polyposis 1 [RCV002543536] Chr5:112707863 [GRCh38]
Chr5:112043560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6179A>G (p.Asn2060Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771136] Chr5:112841773 [GRCh38]
Chr5:112177470 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5021G>A (p.Gly1674Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771137]|Hereditary cancer-predisposing syndrome [RCV003284277] Chr5:112840615 [GRCh38]
Chr5:112176312 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707313_112707316dup duplication Familial adenomatous polyposis 1 [RCV003538757] Chr5:112707312..112707313 [GRCh38]
Chr5:112043009..112043010 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5782del (p.Gln1928fs) deletion Familial adenomatous polyposis 1 [RCV001354809]|Familial adenomatous polyposis 1 [RCV003336381] Chr5:112841376 [GRCh38]
Chr5:112177073 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5254C>G (p.Gln1752Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771161] Chr5:112840848 [GRCh38]
Chr5:112176545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3827_3829del (p.Ser1276del) deletion not provided [RCV001355253] Chr5:112839420..112839422 [GRCh38]
Chr5:112175117..112175119 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-2_135+1274del deletion Familial adenomatous polyposis 1 [RCV001355291] Chr5:112754889..112756299 [GRCh38]
Chr5:112090586..112091996 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3411del (p.Asp1137fs) deletion Familial adenomatous polyposis 1 [RCV001355298] Chr5:112839005 [GRCh38]
Chr5:112174702 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.220+3A>G single nucleotide variant Carcinoma of colon [RCV001355324]|Hereditary cancer-predisposing syndrome [RCV002432001] Chr5:112766413 [GRCh38]
Chr5:112102110 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.4668T>C (p.Thr1556=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652121]|Hereditary cancer-predisposing syndrome [RCV002327628]|not specified [RCV001290661] Chr5:112840262 [GRCh38]
Chr5:112175959 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4378G>A (p.Ala1460Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770505]|Hereditary cancer-predisposing syndrome [RCV001806101] Chr5:112839972 [GRCh38]
Chr5:112175669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6661A>C (p.Met2221Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770886] Chr5:112842255 [GRCh38]
Chr5:112177952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.161G>A (p.Trp54Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770620] Chr5:112707878 [GRCh38]
Chr5:112043575 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1490dup (p.Arg498fs) duplication Familial adenomatous polyposis 1 [RCV001310093] Chr5:112827188..112827189 [GRCh38]
Chr5:112162885..112162886 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1744G>T (p.Glu582Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001310094] Chr5:112834951 [GRCh38]
Chr5:112170648 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2510del (p.Ser836_Ser837insTer) deletion Familial adenomatous polyposis 1 [RCV001310096] Chr5:112838104 [GRCh38]
Chr5:112173801 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.32C>T (p.Ala11Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538731] Chr5:112707749 [GRCh38]
Chr5:112043446 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7879T>G (p.Ser2627Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771065] Chr5:112843473 [GRCh38]
Chr5:112179170 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707391A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652225] Chr5:112707391 [GRCh38]
Chr5:112043088 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3268C>A (p.Gln1090Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242750] Chr5:112838862 [GRCh38]
Chr5:112174559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5933A>T (p.Glu1978Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771139] Chr5:112841527 [GRCh38]
Chr5:112177224 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6807T>G (p.Thr2269=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242861] Chr5:112842401 [GRCh38]
Chr5:112178098 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3713del (p.Ser1238fs) deletion not provided [RCV001355786] Chr5:112839307 [GRCh38]
Chr5:112175004 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1259_1269del (p.Cys420fs) deletion Carcinoma of colon [RCV001355864] Chr5:112819291..112819301 [GRCh38]
Chr5:112154988..112154998 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.166-28469_166-28161del deletion not provided [RCV001356150] Chr5:112737857..112738165 [GRCh38]
Chr5:112073554..112073862 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-1G>C single nucleotide variant not provided [RCV001356205] Chr5:112834950 [GRCh38]
Chr5:112170647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4357C>A (p.Pro1453Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538679] Chr5:112839951 [GRCh38]
Chr5:112175648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2486C>T (p.Thr829Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770539] Chr5:112838080 [GRCh38]
Chr5:112173777 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6931A>C (p.Arg2311=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771278]|Hereditary cancer-predisposing syndrome [RCV002368245] Chr5:112842525 [GRCh38]
Chr5:112178222 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-133_-132delinsGA indel Familial adenomatous polyposis 1 [RCV003652205] Chr5:112707585..112707586 [GRCh38]
Chr5:112043282..112043283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7742G>T (p.Ser2581Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242516]|Hereditary cancer-predisposing syndrome [RCV002404844] Chr5:112843336 [GRCh38]
Chr5:112179033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8407T>A (p.Ser2803Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770556] Chr5:112844001 [GRCh38]
Chr5:112179698 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+5C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002242426]|Hereditary cancer-predisposing syndrome [RCV002413831] Chr5:112828977 [GRCh38]
Chr5:112164674 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3065A>G (p.Asp1022Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242047]|not specified [RCV002246291] Chr5:112838659 [GRCh38]
Chr5:112174356 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3258C>G (p.His1086Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770796] Chr5:112838852 [GRCh38]
Chr5:112174549 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1381G>A (p.Glu461Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771029] Chr5:112821964 [GRCh38]
Chr5:112157661 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707409G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003771157] Chr5:112707409 [GRCh38]
Chr5:112043106 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.40_49del (p.Pro14fs) deletion Familial adenomatous polyposis 1 [RCV003652212] Chr5:112707755..112707764 [GRCh38]
Chr5:112043452..112043461 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707367A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538733] Chr5:112707367 [GRCh38]
Chr5:112043064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.85G>A (p.Gly29Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538734] Chr5:112707802 [GRCh38]
Chr5:112043499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1512T>A (p.Ala504=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653450]|Hereditary cancer-predisposing syndrome [RCV001524714] Chr5:112827211 [GRCh38]
Chr5:112162908 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3847del (p.Ala1283fs) deletion Carcinoma of colon [RCV001357900] Chr5:112839441 [GRCh38]
Chr5:112175138 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-184G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538650] Chr5:112707534 [GRCh38]
Chr5:112043231 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6338G>A (p.Ser2113Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241783] Chr5:112841932 [GRCh38]
Chr5:112177629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2848C>G (p.Pro950Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538651] Chr5:112838442 [GRCh38]
Chr5:112174139 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-116C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538677] Chr5:112707602 [GRCh38]
Chr5:112043299 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-113A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002550079] Chr5:112707605 [GRCh38]
Chr5:112043302 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4526_4527insTT (p.Leu1509_Ser1510insTer) insertion not provided [RCV001355319] Chr5:112840119..112840120 [GRCh38]
Chr5:112175816..112175817 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-180A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003771163] Chr5:112707538 [GRCh38]
Chr5:112043235 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.2T>C (p.Met1Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652219] Chr5:112707719 [GRCh38]
Chr5:112043416 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3754T>C (p.Ser1252Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771111] Chr5:112839348 [GRCh38]
Chr5:112175045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-125A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003652139]|not provided [RCV001751583] Chr5:112707593 [GRCh38]
Chr5:112043290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2811C>T (p.Phe937=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652237]|Hereditary cancer-predisposing syndrome [RCV001523998] Chr5:112838405 [GRCh38]
Chr5:112174102 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.6481A>C (p.Ser2161Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002546157] Chr5:112842075 [GRCh38]
Chr5:112177772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-94C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538643] Chr5:112707624 [GRCh38]
Chr5:112043321 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6057_6058dup (p.Cys2020fs) duplication not provided [RCV001355064] Chr5:112841649..112841650 [GRCh38]
Chr5:112177346..112177347 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4022G>T (p.Ser1341Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652204] Chr5:112839616 [GRCh38]
Chr5:112175313 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-17_423-16del deletion not provided [RCV001356634] Chr5:112775612..112775613 [GRCh38]
Chr5:112111309..112111310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2689A>C (p.Ile897Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550089] Chr5:112838283 [GRCh38]
Chr5:112173980 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1592C>G (p.Ala531Gly) single nucleotide variant Carcinoma of colon [RCV001356666]|Familial adenomatous polyposis 1 [RCV003652203] Chr5:112827972 [GRCh38]
Chr5:112163669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3773C>T (p.Thr1258Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771112]|Hereditary cancer-predisposing syndrome [RCV002350690] Chr5:112839367 [GRCh38]
Chr5:112175064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-151G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538746] Chr5:112707567 [GRCh38]
Chr5:112043264 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.118A>T (p.Ser40Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242592] Chr5:112707835 [GRCh38]
Chr5:112043532 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3061C>T (p.Leu1021=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771317] Chr5:112838655 [GRCh38]
Chr5:112174352 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707315C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002541844] Chr5:112707315 [GRCh38]
Chr5:112043012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6281C>G (p.Pro2094Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242209] Chr5:112841875 [GRCh38]
Chr5:112177572 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707416G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003538727] Chr5:112707416 [GRCh38]
Chr5:112043113 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+3A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003771113] Chr5:112815596 [GRCh38]
Chr5:112151293 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.57C>T (p.Pro19=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538747] Chr5:112707774 [GRCh38]
Chr5:112043471 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-197A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538748] Chr5:112707521 [GRCh38]
Chr5:112043218 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1700G>C (p.Gly567Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770998] Chr5:112828929 [GRCh38]
Chr5:112164626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1180C>A (p.Gln394Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002546160] Chr5:112819212 [GRCh38]
Chr5:112154909 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5071C>T (p.Pro1691Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241979]|Hereditary cancer-predisposing syndrome [RCV003339593] Chr5:112840665 [GRCh38]
Chr5:112176362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4603A>G (p.Asn1535Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003770691] Chr5:112840197 [GRCh38]
Chr5:112175894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.32C>A (p.Ala11Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652206] Chr5:112707749 [GRCh38]
Chr5:112043446 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1807A>G (p.Lys603Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242520] Chr5:112835014 [GRCh38]
Chr5:112170711 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1818A>G (p.Ile606Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771052]|not provided [RCV003332328] Chr5:112835025 [GRCh38]
Chr5:112170722 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.166-28469_166-27547del deletion Carcinoma of colon [RCV001357810] Chr5:112737857..112738779 [GRCh38]
Chr5:112073554..112074476 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.148C>G (p.Gln50Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538729] Chr5:112766338 [GRCh38]
Chr5:112102035 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1440A>G (p.Gln480=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538749]|Hereditary cancer-predisposing syndrome [RCV002395826] Chr5:112827139 [GRCh38]
Chr5:112162836 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5380G>C (p.Asp1794His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771119] Chr5:112840974 [GRCh38]
Chr5:112176671 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-138C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538653] Chr5:112707580 [GRCh38]
Chr5:112043277 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-1T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652156] Chr5:112707717 [GRCh38]
Chr5:112043414 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-159T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003652200] Chr5:112707559 [GRCh38]
Chr5:112043256 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.194del (p.Gln65fs) deletion Carcinoma of colon [RCV001356387] Chr5:112766384 [GRCh38]
Chr5:112102081 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2397dup (p.Val800fs) duplication not provided [RCV001356394] Chr5:112837990..112837991 [GRCh38]
Chr5:112173687..112173688 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707376T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745310] Chr5:112707376 [GRCh38]
Chr5:112043073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1473C>G (p.Asp491Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771055]|Hereditary cancer-predisposing syndrome [RCV002395796] Chr5:112827172 [GRCh38]
Chr5:112162869 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7366T>G (p.Leu2456Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771120] Chr5:112842960 [GRCh38]
Chr5:112178657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1749A>G (p.Ser583=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771499] Chr5:112834956 [GRCh38]
Chr5:112170653 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2636A>G (p.Gln879Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653474]|Hereditary cancer-predisposing syndrome [RCV001524254] Chr5:112838230 [GRCh38]
Chr5:112173927 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5840C>T (p.Thr1947Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771583]|Hereditary cancer-predisposing syndrome [RCV001524362] Chr5:112841434 [GRCh38]
Chr5:112177131 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7127A>G (p.Gln2376Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524394] Chr5:112842721 [GRCh38]
Chr5:112178418 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6273T>G (p.Gly2091=) single nucleotide variant APC-related condition [RCV003956113]|Familial adenomatous polyposis 1 [RCV003653464]|Hereditary cancer-predisposing syndrome [RCV001526258] Chr5:112841867 [GRCh38]
Chr5:112177564 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2798_2804del (p.Asn933fs) deletion Colorectal cancer [RCV001449975] Chr5:112838391..112838397 [GRCh38]
Chr5:112174088..112174094 [GRCh37]
Chr5:5q22.2		 pathogenic
Single allele deletion Familial cancer of breast [RCV001527483] Chr5:112090568..112179843 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6405C>T (p.Ile2135=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771335]|Hereditary cancer-predisposing syndrome [RCV002368316] Chr5:112841999 [GRCh38]
Chr5:112177696 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6312_6321del (p.Ile2104fs) deletion Familial adenomatous polyposis 1 [RCV002242789]|Familial adenomatous polyposis 1 [RCV003771230] Chr5:112841905..112841914 [GRCh38]
Chr5:112177602..112177611 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7923G>A (p.Lys2641=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240279] Chr5:112843517 [GRCh38]
Chr5:112179214 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4176A>C (p.Ser1392=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653454]|Hereditary cancer-predisposing syndrome [RCV003584968] Chr5:112839770 [GRCh38]
Chr5:112175467 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6924C>T (p.Thr2308=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745329]|Hereditary cancer-predisposing syndrome [RCV003382606] Chr5:112842518 [GRCh38]
Chr5:112178215 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3048T>C (p.Asp1016=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538796]|Hereditary cancer-predisposing syndrome [RCV002449274] Chr5:112838642 [GRCh38]
Chr5:112174339 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1392dup (p.Ala465fs) duplication Familial adenomatous polyposis 1 [RCV002242830]|Familial adenomatous polyposis 1 [RCV003771250] Chr5:112821974..112821975 [GRCh38]
Chr5:112157671..112157672 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4537G>T (p.Glu1513Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242853] Chr5:112840131 [GRCh38]
Chr5:112175828 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5934A>G (p.Glu1978=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771517] Chr5:112841528 [GRCh38]
Chr5:112177225 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2553T>G (p.Ser851Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524949] Chr5:112838147 [GRCh38]
Chr5:112173844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7224T>G (p.Asn2408Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771595]|Hereditary cancer-predisposing syndrome [RCV001525019] Chr5:112842818 [GRCh38]
Chr5:112178515 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.758dup (p.Ser254fs) duplication Familial adenomatous polyposis 1 [RCV003771231] Chr5:112801305..112801306 [GRCh38]
Chr5:112137002..112137003 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1488_1489del (p.Leu497fs) microsatellite Familial adenomatous polyposis 1 [RCV002551570]|Familial adenomatous polyposis 1 [RCV003538777] Chr5:112827185..112827186 [GRCh38]
Chr5:112162882..112162883 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1408+8A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003771446] Chr5:112821999 [GRCh38]
Chr5:112157696 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5385A>T (p.Ser1795=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239409] Chr5:112840979 [GRCh38]
Chr5:112176676 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.993G>C (p.Ser331=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525378] Chr5:112819025 [GRCh38]
Chr5:112154722 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4495G>C (p.Gly1499Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653477]|Hereditary cancer-predisposing syndrome [RCV001525485] Chr5:112840089 [GRCh38]
Chr5:112175786 [GRCh37]
Chr5:5q22.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.321T>C (p.Ser107=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240857] Chr5:112767289 [GRCh38]
Chr5:112102986 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8475C>T (p.Ser2825=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562716]|Hereditary cancer-predisposing syndrome [RCV002449285] Chr5:112844069 [GRCh38]
Chr5:112179766 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.520T>C (p.Leu174=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240464]|Hereditary cancer-predisposing syndrome [RCV002350971] Chr5:112775726 [GRCh38]
Chr5:112111423 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1044A>G (p.Arg348=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653442] Chr5:112819076 [GRCh38]
Chr5:112154773 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.15A>C (p.Ser5=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653426] Chr5:112754905 [GRCh38]
Chr5:112090602 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1199G>A (p.Gly400Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525593] Chr5:112819231 [GRCh38]
Chr5:112154928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8523A>T (p.Thr2841=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745334]|Hereditary cancer-predisposing syndrome [RCV001525631] Chr5:112844117 [GRCh38]
Chr5:112179814 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3596A>G (p.Lys1199Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525808] Chr5:112839190 [GRCh38]
Chr5:112174887 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7010G>A (p.Ser2337Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745336]|Hereditary cancer-predisposing syndrome [RCV001525824]|not provided [RCV003478870] Chr5:112842604 [GRCh38]
Chr5:112178301 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2697C>G (p.Thr899=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771518] Chr5:112838291 [GRCh38]
Chr5:112173988 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7725T>C (p.Ser2575=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653444] Chr5:112843319 [GRCh38]
Chr5:112179016 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1313-2A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003771226] Chr5:112821894 [GRCh38]
Chr5:112157591 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6234T>C (p.Leu2078=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538800]|Hereditary cancer-predisposing syndrome [RCV002368525] Chr5:112841828 [GRCh38]
Chr5:112177525 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3420T>C (p.Pro1140=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771628]|Hereditary cancer-predisposing syndrome [RCV002458506]|not specified [RCV001526970] Chr5:112839014 [GRCh38]
Chr5:112174711 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1860T>C (p.Leu620=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771477] Chr5:112835067 [GRCh38]
Chr5:112170764 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6894A>G (p.Ala2298=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771485] Chr5:112842488 [GRCh38]
Chr5:112178185 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2301G>A (p.Gln767=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653470]|Hereditary cancer-predisposing syndrome [RCV002424946] Chr5:112837895 [GRCh38]
Chr5:112173592 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.479C>T (p.Ala160Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001526281] Chr5:112775685 [GRCh38]
Chr5:112111382 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1839del (p.Ala614fs) deletion Familial adenomatous polyposis 1 [RCV003771265] Chr5:112835045 [GRCh38]
Chr5:112170742 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5265G>T (p.Ala1755=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538785]|Hereditary cancer-predisposing syndrome [RCV002341973] Chr5:112840859 [GRCh38]
Chr5:112176556 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3702T>C (p.Ser1234=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652252] Chr5:112839296 [GRCh38]
Chr5:112174993 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112090582)_(112157694_?)dup duplication Familial adenomatous polyposis 1 [RCV002242776] Chr5:112090582..112157694 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.594T>A (p.Val198=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653436] Chr5:112780852 [GRCh38]
Chr5:112116549 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8082T>A (p.Ile2694=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561990]|Hereditary cancer-predisposing syndrome [RCV002421091] Chr5:112843676 [GRCh38]
Chr5:112179373 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3624C>A (p.Thr1208=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745328]|Hereditary cancer-predisposing syndrome [RCV002456829] Chr5:112839218 [GRCh38]
Chr5:112174915 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3252dup (p.Lys1085Ter) duplication Familial adenomatous polyposis 1 [RCV002242848]|Familial adenomatous polyposis 1 [RCV003771266] Chr5:112838845..112838846 [GRCh38]
Chr5:112174542..112174543 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3594A>C (p.Ser1198=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240453]|Hereditary cancer-predisposing syndrome [RCV002342060] Chr5:112839188 [GRCh38]
Chr5:112174885 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1119C>T (p.Ser373=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653471] Chr5:112819151 [GRCh38]
Chr5:112154848 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3267C>T (p.Phe1089=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653455]|Hereditary cancer-predisposing syndrome [RCV002324099] Chr5:112838861 [GRCh38]
Chr5:112174558 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8283A>G (p.Pro2761=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652268]|Hereditary cancer-predisposing syndrome [RCV002432162] Chr5:112843877 [GRCh38]
Chr5:112179574 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3616dup (p.Ser1206fs) duplication Familial adenomatous polyposis 1 [RCV002242840]|Familial adenomatous polyposis 1 [RCV003771255] Chr5:112839209..112839210 [GRCh38]
Chr5:112174906..112174907 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4284A>G (p.Gly1428=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771392] Chr5:112839878 [GRCh38]
Chr5:112175575 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8487A>G (p.Gln2829=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538789]|Hereditary cancer-predisposing syndrome [RCV002449240] Chr5:112844081 [GRCh38]
Chr5:112179778 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3951A>G (p.Glu1317=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240299] Chr5:112839545 [GRCh38]
Chr5:112175242 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6975C>T (p.Gly2325=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771497] Chr5:112842569 [GRCh38]
Chr5:112178266 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8472A>G (p.Glu2824=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538783]|Hereditary cancer-predisposing syndrome [RCV002449159] Chr5:112844066 [GRCh38]
Chr5:112179763 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5766G>A (p.Gln1922=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652253]|Hereditary cancer-predisposing syndrome [RCV003170023] Chr5:112841360 [GRCh38]
Chr5:112177057 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4623G>A (p.Gln1541=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771484]|Hereditary cancer-predisposing syndrome [RCV002342089] Chr5:112840217 [GRCh38]
Chr5:112175914 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.544A>G (p.Thr182Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745331]|Hereditary cancer-predisposing syndrome [RCV001524389] Chr5:112780802 [GRCh38]
Chr5:112116499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5467T>C (p.Phe1823Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745332]|Hereditary cancer-predisposing syndrome [RCV001524568] Chr5:112841061 [GRCh38]
Chr5:112176758 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.368T>G (p.Phe123Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524591] Chr5:112767336 [GRCh38]
Chr5:112103033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7074C>G (p.Ser2358=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652278] Chr5:112842668 [GRCh38]
Chr5:112178365 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4195C>T (p.Arg1399Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001872047]|Hereditary cancer-predisposing syndrome [RCV001524715] Chr5:112839789 [GRCh38]
Chr5:112175486 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7496T>C (p.Val2499Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524842] Chr5:112843090 [GRCh38]
Chr5:112178787 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3858A>G (p.Glu1286=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524868] Chr5:112839452 [GRCh38]
Chr5:112175149 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7222A>T (p.Asn2408Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524871] Chr5:112842816 [GRCh38]
Chr5:112178513 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3034A>G (p.Asn1012Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524877] Chr5:112838628 [GRCh38]
Chr5:112174325 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6759T>A (p.Leu2253=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771472] Chr5:112842353 [GRCh38]
Chr5:112178050 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3852A>G (p.Glu1284=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771488] Chr5:112839446 [GRCh38]
Chr5:112175143 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3780G>A (p.Gln1260=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653435] Chr5:112839374 [GRCh38]
Chr5:112175071 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4086C>T (p.Ser1362=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552696]|Hereditary cancer-predisposing syndrome [RCV002322383] Chr5:112839680 [GRCh38]
Chr5:112175377 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4314A>G (p.Thr1438=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771376] Chr5:112839908 [GRCh38]
Chr5:112175605 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3120G>A (p.Arg1040=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240587] Chr5:112838714 [GRCh38]
Chr5:112174411 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4080T>G (p.Ser1360=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745333]|Hereditary cancer-predisposing syndrome [RCV001525162] Chr5:112839674 [GRCh38]
Chr5:112175371 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5C>G (p.Ala2Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525186] Chr5:112754895 [GRCh38]
Chr5:112090592 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6556A>G (p.Lys2186Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002568088]|Hereditary cancer-predisposing syndrome [RCV001525210] Chr5:112842150 [GRCh38]
Chr5:112177847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112175028)_112177720del deletion Familial adenomatous polyposis 1 [RCV001383811]   pathogenic
NM_000038.6(APC):c.3716G>T (p.Arg1239Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653476]|Hereditary cancer-predisposing syndrome [RCV001525361]|not provided [RCV001581176] Chr5:112839310 [GRCh38]
Chr5:112175007 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3361A>G (p.Ile1121Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525517] Chr5:112838955 [GRCh38]
Chr5:112174652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.596C>G (p.Ala199Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771606]|Hereditary cancer-predisposing syndrome [RCV001525693] Chr5:112780854 [GRCh38]
Chr5:112116551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-4A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002240713] Chr5:112775625 [GRCh38]
Chr5:112111322 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3957T>C (p.Pro1319=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771432] Chr5:112839551 [GRCh38]
Chr5:112175248 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7818A>C (p.Val2606=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653428]|Hereditary cancer-predisposing syndrome [RCV003584956] Chr5:112843412 [GRCh38]
Chr5:112179109 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5979T>G (p.Pro1993=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538793] Chr5:112841573 [GRCh38]
Chr5:112177270 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6155del (p.Lys2052fs) deletion Familial adenomatous polyposis 1 [RCV002242921] Chr5:112841745 [GRCh38]
Chr5:112177442 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.765T>C (p.His255=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652271] Chr5:112801314 [GRCh38]
Chr5:112137011 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5970T>G (p.Thr1990=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653465]|Hereditary cancer-predisposing syndrome [RCV003161021] Chr5:112841564 [GRCh38]
Chr5:112177261 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7884G>A (p.Gln2628=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653449] Chr5:112843478 [GRCh38]
Chr5:112179175 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2685A>G (p.Ser895=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771495] Chr5:112838279 [GRCh38]
Chr5:112173976 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4994C>T (p.Pro1665Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001526009] Chr5:112840588 [GRCh38]
Chr5:112176285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4373C>T (p.Pro1458Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771615]|Hereditary cancer-predisposing syndrome [RCV001526039] Chr5:112839967 [GRCh38]
Chr5:112175664 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7218T>C (p.Asn2406=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653469]|Hereditary cancer-predisposing syndrome [RCV002377884] Chr5:112842812 [GRCh38]
Chr5:112178509 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2568C>A (p.Arg856=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653437]|Hereditary cancer-predisposing syndrome [RCV002432322] Chr5:112838162 [GRCh38]
Chr5:112173859 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4629A>G (p.Lys1543=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653440]|Hereditary cancer-predisposing syndrome [RCV002342069] Chr5:112840223 [GRCh38]
Chr5:112175920 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2391T>C (p.Gly797=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240869] Chr5:112837985 [GRCh38]
Chr5:112173682 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3576A>G (p.Lys1192=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538801]|Hereditary cancer-predisposing syndrome [RCV002458487] Chr5:112839170 [GRCh38]
Chr5:112174867 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4107C>G (p.Pro1369=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771377] Chr5:112839701 [GRCh38]
Chr5:112175398 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5586G>A (p.Leu1862=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652241] Chr5:112841180 [GRCh38]
Chr5:112176877 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4912dup (p.Met1638fs) duplication Familial adenomatous polyposis 1 [RCV002242993] Chr5:112840505..112840506 [GRCh38]
Chr5:112176202..112176203 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.580A>C (p.Arg194=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001526340] Chr5:112780838 [GRCh38]
Chr5:112116535 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3987C>T (p.His1329=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653438] Chr5:112839581 [GRCh38]
Chr5:112175278 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6279C>A (p.Ser2093=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002564132] Chr5:112841873 [GRCh38]
Chr5:112177570 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3519G>A (p.Val1173=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653441]|Hereditary cancer-predisposing syndrome [RCV002456825] Chr5:112839113 [GRCh38]
Chr5:112174810 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.48G>A (p.Leu16=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653463] Chr5:112754938 [GRCh38]
Chr5:112090635 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4009C>T (p.Leu1337=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002243080]|Hereditary cancer-predisposing syndrome [RCV002358931] Chr5:112839603 [GRCh38]
Chr5:112175300 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8439A>G (p.Thr2813=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653443]|Hereditary cancer-predisposing syndrome [RCV002414154] Chr5:112844033 [GRCh38]
Chr5:112179730 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1809_1816dup (p.Ile606fs) duplication Familial adenomatous polyposis 1 [RCV003538770] Chr5:112835014..112835015 [GRCh38]
Chr5:112170711..112170712 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6627T>A (p.Ile2209=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653452]|Hereditary cancer-predisposing syndrome [RCV003160986] Chr5:112842221 [GRCh38]
Chr5:112177918 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.986A>T (p.Asp329Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001523878] Chr5:112819018 [GRCh38]
Chr5:112154715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5640A>G (p.Glu1880=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745330]|Hereditary cancer-predisposing syndrome [RCV001523977] Chr5:112841234 [GRCh38]
Chr5:112176931 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7014T>C (p.Pro2338=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652276] Chr5:112842608 [GRCh38]
Chr5:112178305 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+2T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002550265]|Familial adenomatous polyposis 1 [RCV003538766]|Familial multiple polyposis syndrome [RCV002298942] Chr5:112835167 [GRCh38]
Chr5:112170864 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1315_1319del (p.Pro439fs) deletion Familial adenomatous polyposis 1 [RCV003771249] Chr5:112821898..112821902 [GRCh38]
Chr5:112157595..112157599 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5525C>A (p.Ser1842Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538774] Chr5:112841119 [GRCh38]
Chr5:112176816 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.231A>G (p.Leu77=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002243034] Chr5:112767199 [GRCh38]
Chr5:112102896 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6T>C (p.Ala2=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652249] Chr5:112754896 [GRCh38]
Chr5:112090593 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+8C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652290] Chr5:112819352 [GRCh38]
Chr5:112155049 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.148C>T (p.Gln50Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771264] Chr5:112766338 [GRCh38]
Chr5:112102035 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3586del (p.Ser1196fs) deletion Familial adenomatous polyposis 1 [RCV003771261] Chr5:112839177 [GRCh38]
Chr5:112174874 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6438A>G (p.Ser2146=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771293] Chr5:112842032 [GRCh38]
Chr5:112177729 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.835-10T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003771397] Chr5:112815485 [GRCh38]
Chr5:112151182 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6171G>A (p.Lys2057=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653419]|Hereditary cancer-predisposing syndrome [RCV002359005] Chr5:112841765 [GRCh38]
Chr5:112177462 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4591_4592dup (p.Asn1531fs) duplication Familial adenomatous polyposis 1 [RCV003771251] Chr5:112840182..112840183 [GRCh38]
Chr5:112175879..112175880 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3579G>A (p.Gln1193=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652245] Chr5:112839173 [GRCh38]
Chr5:112174870 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3413del (p.Asp1138fs) deletion Familial adenomatous polyposis 1 [RCV003538776] Chr5:112839007 [GRCh38]
Chr5:112174704 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112043009)_(112182936_?)del deletion Familial adenomatous polyposis 1 [RCV002242884] Chr5:112043009..112182936 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112043010)_147211146del deletion Familial adenomatous polyposis 1 [RCV001381153]   pathogenic
NC_000005.9:g.(?_112043102)_112112047del deletion Familial adenomatous polyposis 1 [RCV001381155]   pathogenic
NC_000005.9:g.(?_112043009)_(112151296_?)del deletion Familial adenomatous polyposis 1 [RCV003154029] Chr5:112043009..112151296 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3839dup (p.Leu1280fs) duplication Familial adenomatous polyposis 1 [RCV002242918] Chr5:112839430..112839431 [GRCh38]
Chr5:112175127..112175128 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4839del (p.Val1614fs) deletion Familial adenomatous polyposis 1 [RCV002242991]|Familial adenomatous polyposis 1 [RCV003771267] Chr5:112840433 [GRCh38]
Chr5:112176130 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7869A>C (p.Thr2623=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771294] Chr5:112843463 [GRCh38]
Chr5:112179160 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3723T>C (p.Gly1241=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652280]|Hereditary cancer-predisposing syndrome [RCV003160774] Chr5:112839317 [GRCh38]
Chr5:112175014 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1195A>C (p.Arg399=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652284] Chr5:112819227 [GRCh38]
Chr5:112154924 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3589_3590insCTCAAAATGTTTCA (p.Phe1197fs) insertion Familial adenomatous polyposis 1 [RCV002242903] Chr5:112839183..112839184 [GRCh38]
Chr5:112174880..112174881 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4038A>T (p.Ser1346=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002237163] Chr5:112839632 [GRCh38]
Chr5:112175329 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4785C>T (p.Ala1595=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554001]|Hereditary cancer-predisposing syndrome [RCV002341882] Chr5:112840379 [GRCh38]
Chr5:112176076 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5954_5966del (p.Glu1985fs) deletion Familial adenomatous polyposis 1 [RCV002242906] Chr5:112841548..112841560 [GRCh38]
Chr5:112177245..112177257 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5799dup (p.Pro1934fs) duplication Familial adenomatous polyposis 1 [RCV003771232] Chr5:112841389..112841390 [GRCh38]
Chr5:112177086..112177087 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.492T>C (p.Asn164=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771336] Chr5:112775698 [GRCh38]
Chr5:112111395 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.804A>G (p.Glu268=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771401] Chr5:112801353 [GRCh38]
Chr5:112137050 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1689G>A (p.Leu563=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652255]|Hereditary cancer-predisposing syndrome [RCV001806168] Chr5:112828918 [GRCh38]
Chr5:112164615 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112104310)_112154750del deletion Familial adenomatous polyposis 1 [RCV001378399]   likely pathogenic
NM_000038.6(APC):c.5748G>A (p.Gln1916=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652267] Chr5:112841342 [GRCh38]
Chr5:112177039 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-26T>G single nucleotide variant not provided [RCV001540864]|not specified [RCV002268510] Chr5:112827082 [GRCh38]
Chr5:112162779 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.1865dup (p.Tyr622Ter) duplication Familial adenomatous polyposis 1 [RCV002550272]|Familial adenomatous polyposis 1 [RCV003652233] Chr5:112835071..112835072 [GRCh38]
Chr5:112170768..112170769 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7470T>C (p.Asp2490=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652240]|Hereditary cancer-predisposing syndrome [RCV002395897] Chr5:112843064 [GRCh38]
Chr5:112178761 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3249dup (p.Asp1084Ter) duplication Familial adenomatous polyposis 1 [RCV003538772] Chr5:112838842..112838843 [GRCh38]
Chr5:112174539..112174540 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4140C>G (p.Thr1380=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745327]|Hereditary cancer-predisposing syndrome [RCV002329496] Chr5:112839734 [GRCh38]
Chr5:112175431 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3953_3956dup (p.Val1320fs) duplication Familial adenomatous polyposis 1 [RCV003538773] Chr5:112839546..112839547 [GRCh38]
Chr5:112175243..112175244 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7050C>T (p.Ser2350=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652250]|Hereditary cancer-predisposing syndrome [RCV002377621] Chr5:112842644 [GRCh38]
Chr5:112178341 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.422+1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003771225] Chr5:112767391 [GRCh38]
Chr5:112103088 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.847C>A (p.Arg283=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652266]|Hereditary cancer-predisposing syndrome [RCV001525056] Chr5:112815507 [GRCh38]
Chr5:112151204 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3088_3092delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNCTCTGTATTTCCTGAATTTGAATATTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGTGTT (p.Lys1030_Tyr1031delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaXaaXaaSerValPheProGluPheGluTyrTrpProAlaLeuLeuAspTrpGlySerSerProGlyTer) indel Familial adenomatous polyposis 1 [RCV003538765] Chr5:112838682..112838686 [GRCh38]
Chr5:112174379..112174383 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2352T>G (p.Ser784=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553988] Chr5:112837946 [GRCh38]
Chr5:112173643 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6764del (p.Thr2255fs) deletion Familial adenomatous polyposis 1 [RCV003771234]|Hereditary cancer-predisposing syndrome [RCV002368221] Chr5:112842358 [GRCh38]
Chr5:112178055 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4145del (p.Leu1382fs) deletion Familial adenomatous polyposis 1 [RCV002551572] Chr5:112839739 [GRCh38]
Chr5:112175436 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3829T>C (p.Leu1277=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771420] Chr5:112839423 [GRCh38]
Chr5:112175120 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112111314)_(112111444_?)del deletion Familial adenomatous polyposis 1 [RCV002242883] Chr5:112111314..112111444 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112154657)_(112157694_?)del deletion Familial adenomatous polyposis 1 [RCV002242798] Chr5:112154657..112157694 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112154657)_(112179828_?)del deletion Familial adenomatous polyposis 1 [RCV001380906] Chr5:112154657..112179828 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112162795)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV002242799] Chr5:112162795..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2643C>T (p.Ser881=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652281]|Hereditary cancer-predisposing syndrome [RCV002432238] Chr5:112838237 [GRCh38]
Chr5:112173934 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4821G>A (p.Arg1607=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652286] Chr5:112840415 [GRCh38]
Chr5:112176112 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112174702)_112203173del deletion Familial adenomatous polyposis 1 [RCV001383810]   pathogenic
NM_000038.6(APC):c.1312+10C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003652274] Chr5:112819354 [GRCh38]
Chr5:112155051 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112170638)_(112170872_?)dup duplication Familial adenomatous polyposis 1 [RCV002242775] Chr5:112170638..112170872 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2319del (p.Phe773fs) deletion Familial adenomatous polyposis 1 [RCV002242907]|Familial adenomatous polyposis 1 [RCV003337368] Chr5:112837910 [GRCh38]
Chr5:112173607 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2474_2475del (p.Tyr825fs) microsatellite Familial adenomatous polyposis 1 [RCV003771256] Chr5:112838066..112838067 [GRCh38]
Chr5:112173763..112173764 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2005T>C (p.Leu669=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652251] Chr5:112837599 [GRCh38]
Chr5:112173296 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3907C>T (p.Gln1303Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551573]|Familial adenomatous polyposis 1 [RCV003538778] Chr5:112839501 [GRCh38]
Chr5:112175198 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2808T>C (p.Asn936=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652285] Chr5:112838402 [GRCh38]
Chr5:112174099 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4653A>G (p.Lys1551=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652269] Chr5:112840247 [GRCh38]
Chr5:112175944 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5367A>G (p.Val1789=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771402]|Hereditary cancer-predisposing syndrome [RCV002350887] Chr5:112840961 [GRCh38]
Chr5:112176658 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-8A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003771403] Chr5:112775621 [GRCh38]
Chr5:112111318 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5127C>G (p.Thr1709=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002239387] Chr5:112840721 [GRCh38]
Chr5:112176418 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2718T>C (p.Ser906=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652243] Chr5:112838312 [GRCh38]
Chr5:112174009 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6537A>G (p.Lys2179=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652254]|Hereditary cancer-predisposing syndrome [RCV002368275] Chr5:112842131 [GRCh38]
Chr5:112177828 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7167T>C (p.Ser2389=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652287]|Hereditary cancer-predisposing syndrome [RCV003160803] Chr5:112842761 [GRCh38]
Chr5:112178458 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3804_3805del (p.Ile1269fs) deletion Familial adenomatous polyposis 1 [RCV002242817] Chr5:112839398..112839399 [GRCh38]
Chr5:112175095..112175096 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2154T>A (p.Ile718=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771297] Chr5:112837748 [GRCh38]
Chr5:112173445 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2565A>G (p.Glu855=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771276]|Hereditary cancer-predisposing syndrome [RCV002432086] Chr5:112838159 [GRCh38]
Chr5:112173856 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112151175)_(112155051_?)del deletion Familial adenomatous polyposis 1 [RCV002242922] Chr5:112151175..112155051 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.915A>G (p.Thr305=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771366]|Hereditary cancer-predisposing syndrome [RCV003584942] Chr5:112815575 [GRCh38]
Chr5:112151272 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3870T>C (p.Asn1290=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771304]|Hereditary cancer-predisposing syndrome [RCV002358912] Chr5:112839464 [GRCh38]
Chr5:112175161 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.5:c.(-19+1_c.-18-1)_(933+1_934-1)dup duplication Hereditary cancer-predisposing syndrome [RCV001376097]   uncertain significance
NM_000038.6(APC):c.2590_2597del (p.His864fs) deletion Familial adenomatous polyposis 1 [RCV003771254]|Hereditary cancer-predisposing syndrome [RCV003339630] Chr5:112838183..112838190 [GRCh38]
Chr5:112173880..112173887 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4104A>G (p.Thr1368=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771359] Chr5:112839698 [GRCh38]
Chr5:112175395 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3688del (p.Gln1230fs) deletion Familial adenomatous polyposis 1 [RCV002550262]|Familial adenomatous polyposis 1 [RCV003771237] Chr5:112839282 [GRCh38]
Chr5:112174979 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1104A>G (p.Val368=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538787]|Hereditary cancer-predisposing syndrome [RCV002432243] Chr5:112819136 [GRCh38]
Chr5:112154833 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7299A>G (p.Glu2433=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538788] Chr5:112842893 [GRCh38]
Chr5:112178590 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112173930)_112310702del deletion Familial adenomatous polyposis 1 [RCV001383809]   pathogenic
NC_000005.9:g.(?_112111326)_112179823del deletion Familial adenomatous polyposis 1 [RCV001383812]   pathogenic
NM_000038.6(APC):c.6195C>G (p.Pro2065=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652282]|Hereditary cancer-predisposing syndrome [RCV002358995] Chr5:112841789 [GRCh38]
Chr5:112177486 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3540T>C (p.Ser1180=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771307] Chr5:112839134 [GRCh38]
Chr5:112174831 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4782A>G (p.Pro1594=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002243052]|Hereditary cancer-predisposing syndrome [RCV002341878] Chr5:112840376 [GRCh38]
Chr5:112176073 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1395A>G (p.Ala465=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652288] Chr5:112821978 [GRCh38]
Chr5:112157675 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5763T>G (p.Gly1921=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652256] Chr5:112841357 [GRCh38]
Chr5:112177054 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5811C>T (p.Ser1937=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652265] Chr5:112841405 [GRCh38]
Chr5:112177102 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2557G>T (p.Glu853Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551537] Chr5:112838151 [GRCh38]
Chr5:112173848 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3456G>A (p.Gln1152=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652264]|Hereditary cancer-predisposing syndrome [RCV002456672] Chr5:112839050 [GRCh38]
Chr5:112174747 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.729+8A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652272] Chr5:112792537 [GRCh38]
Chr5:112128234 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4316del (p.Pro1439fs) deletion Familial adenomatous polyposis 1 [RCV003771238] Chr5:112839909 [GRCh38]
Chr5:112175606 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4068A>T (p.Ser1356=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652283]|Hereditary cancer-predisposing syndrome [RCV002322476] Chr5:112839662 [GRCh38]
Chr5:112175359 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7731A>C (p.Ser2577=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652257] Chr5:112843325 [GRCh38]
Chr5:112179022 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4969C>T (p.Leu1657=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652275]|Hereditary cancer-predisposing syndrome [RCV002341950] Chr5:112840563 [GRCh38]
Chr5:112176260 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2507C>A (p.Ser836Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242839]|Hereditary cancer-predisposing syndrome [RCV002432072] Chr5:112838101 [GRCh38]
Chr5:112173798 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1287A>T (p.Pro429=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652279] Chr5:112819319 [GRCh38]
Chr5:112155016 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.845del (p.Thr282fs) deletion Familial adenomatous polyposis 1 [RCV003771240] Chr5:112815505 [GRCh38]
Chr5:112151202 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1320T>A (p.Ala440=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771416] Chr5:112821903 [GRCh38]
Chr5:112157600 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1239_1240del (p.Ile413fs) deletion Familial adenomatous polyposis 1 [RCV003771241] Chr5:112819271..112819272 [GRCh38]
Chr5:112154968..112154969 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2424T>C (p.Asp808=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771309] Chr5:112838018 [GRCh38]
Chr5:112173715 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6114G>C (p.Leu2038=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652258] Chr5:112841708 [GRCh38]
Chr5:112177405 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3117A>G (p.Gly1039=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652277] Chr5:112838711 [GRCh38]
Chr5:112174408 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6126T>C (p.Cys2042=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652289]|Hereditary cancer-predisposing syndrome [RCV001806185] Chr5:112841720 [GRCh38]
Chr5:112177417 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2176T>C (p.Leu726=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771361]|Hereditary cancer-predisposing syndrome [RCV002432187] Chr5:112837770 [GRCh38]
Chr5:112173467 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1053A>T (p.Gly351=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652248]|Hereditary cancer-predisposing syndrome [RCV002404944] Chr5:112819085 [GRCh38]
Chr5:112154782 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8493T>C (p.Pro2831=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554024] Chr5:112844087 [GRCh38]
Chr5:112179784 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3520del (p.Asp1174fs) deletion Familial adenomatous polyposis 1 [RCV003771262] Chr5:112839113 [GRCh38]
Chr5:112174810 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2085G>A (p.Gln695=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538782]|Hereditary cancer-predisposing syndrome [RCV002420922] Chr5:112837679 [GRCh38]
Chr5:112173376 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2505T>C (p.Ser835=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652259] Chr5:112838099 [GRCh38]
Chr5:112173796 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7624A>G (p.Asn2542Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001523852] Chr5:112843218 [GRCh38]
Chr5:112178915 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8316A>T (p.Ser2772=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524831] Chr5:112843910 [GRCh38]
Chr5:112179607 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6696T>C (p.His2232=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653475]|Hereditary cancer-predisposing syndrome [RCV001524834] Chr5:112842290 [GRCh38]
Chr5:112177987 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1383_1390delinsATGAATGA (p.His462_His464delinsTer) indel Colorectal cancer [RCV001527482] Chr5:112821966..112821973 [GRCh38]
Chr5:112157663..112157670 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8442G>A (p.Lys2814=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771493]|Hereditary cancer-predisposing syndrome [RCV001525747] Chr5:112844036 [GRCh38]
Chr5:112179733 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2260del (p.Val754fs) deletion not provided [RCV001508527] Chr5:112837854 [GRCh38]
Chr5:112173551 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002564249]|Familial adenomatous polyposis 1 [RCV003334399]|not provided [RCV001508528] Chr5:112838727 [GRCh38]
Chr5:112174424 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3162C>G (p.His1054Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525174] Chr5:112838756 [GRCh38]
Chr5:112174453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7347C>T (p.Ser2449=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538794]|Hereditary cancer-predisposing syndrome [RCV002384764] Chr5:112842941 [GRCh38]
Chr5:112178638 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8283A>T (p.Pro2761=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653420]|Hereditary cancer-predisposing syndrome [RCV003160818] Chr5:112843877 [GRCh38]
Chr5:112179574 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7407T>A (p.Ser2469=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003154185] Chr5:112843001 [GRCh38]
Chr5:112178698 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5757T>C (p.Asn1919=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653453]|Hereditary cancer-predisposing syndrome [RCV002343670] Chr5:112841351 [GRCh38]
Chr5:112177048 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2469A>C (p.Ser823=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653421]|Hereditary cancer-predisposing syndrome [RCV002449211] Chr5:112838063 [GRCh38]
Chr5:112173760 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4971A>G (p.Leu1657=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653433]|Hereditary cancer-predisposing syndrome [RCV002342054] Chr5:112840565 [GRCh38]
Chr5:112176262 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6206G>A (p.Gly2069Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001526014] Chr5:112841800 [GRCh38]
Chr5:112177497 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8372G>T (p.Arg2791Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001526149] Chr5:112843966 [GRCh38]
Chr5:112179663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+8A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653439] Chr5:112780911 [GRCh38]
Chr5:112116608 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.900A>G (p.Ala300=) single nucleotide variant APC-related condition [RCV003965922]|Familial adenomatous polyposis 1 [RCV003538790]|Hereditary cancer-predisposing syndrome [RCV002377788] Chr5:112815560 [GRCh38]
Chr5:112151257 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6534T>C (p.Thr2178=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563258] Chr5:112842128 [GRCh38]
Chr5:112177825 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.540A>G (p.Leu180=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653472] Chr5:112780798 [GRCh38]
Chr5:112116495 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1248C>T (p.Tyr416=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002564184]|Hereditary cancer-predisposing syndrome [RCV002388565] Chr5:112819280 [GRCh38]
Chr5:112154977 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.195G>A (p.Gln65=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771545] Chr5:112766385 [GRCh38]
Chr5:112102082 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-133_-132delinsGT indel Familial adenomatous polyposis 1 [RCV002568014] Chr5:112707585..112707586 [GRCh38]
Chr5:112043282..112043283 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.4503T>C (p.Ser1501=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653459] Chr5:112840097 [GRCh38]
Chr5:112175794 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2589C>T (p.Tyr863=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002557534]|not specified [RCV002282550] Chr5:112838183 [GRCh38]
Chr5:112173880 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7356A>G (p.Leu2452=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653423] Chr5:112842950 [GRCh38]
Chr5:112178647 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6264A>G (p.Ser2088=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771473] Chr5:112841858 [GRCh38]
Chr5:112177555 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3466G>A (p.Glu1156Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653481]|Hereditary cancer-predisposing syndrome [RCV003355511]|not provided [RCV001527316] Chr5:112839060 [GRCh38]
Chr5:112174757 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134_-133insGG insertion Familial adenomatous polyposis 1 [RCV003538802]|not provided [RCV003434304] Chr5:112707584..112707585 [GRCh38]
Chr5:112043281..112043282 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.966T>C (p.Leu322=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653460] Chr5:112818998 [GRCh38]
Chr5:112154695 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5905C>T (p.Leu1969=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771461] Chr5:112841499 [GRCh38]
Chr5:112177196 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7149T>C (p.Gly2383=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368613]|not provided [RCV001585186] Chr5:112842743 [GRCh38]
Chr5:112178440 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4869G>A (p.Arg1623=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771478] Chr5:112840463 [GRCh38]
Chr5:112176160 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1377T>C (p.Asp459=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653467]|Hereditary cancer-predisposing syndrome [RCV002384849] Chr5:112821960 [GRCh38]
Chr5:112157657 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7389A>G (p.Glu2463=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653422]|Hereditary cancer-predisposing syndrome [RCV002384703] Chr5:112842983 [GRCh38]
Chr5:112178680 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.276C>G (p.Ser92=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771431] Chr5:112767244 [GRCh38]
Chr5:112102941 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1599A>G (p.Leu533=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653447]|Hereditary cancer-predisposing syndrome [RCV002405133] Chr5:112827979 [GRCh38]
Chr5:112163676 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7590G>A (p.Arg2530=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653427] Chr5:112843184 [GRCh38]
Chr5:112178881 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4860A>G (p.Ser1620=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653462] Chr5:112840454 [GRCh38]
Chr5:112176151 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3873G>A (p.Gln1291=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538797] Chr5:112839467 [GRCh38]
Chr5:112175164 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5697A>G (p.Glu1899=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524275] Chr5:112841291 [GRCh38]
Chr5:112176988 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7154C>T (p.Ser2385Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524297] Chr5:112842748 [GRCh38]
Chr5:112178445 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6102T>C (p.Ser2034=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771523] Chr5:112841696 [GRCh38]
Chr5:112177393 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2430G>A (p.Arg810=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562699]|Hereditary cancer-predisposing syndrome [RCV002456853] Chr5:112838024 [GRCh38]
Chr5:112173721 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5270C>G (p.Ser1757Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771582]|Hereditary cancer-predisposing syndrome [RCV001524348]|not provided [RCV003478867] Chr5:112840864 [GRCh38]
Chr5:112176561 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4377T>A (p.Thr1459=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653468] Chr5:112839971 [GRCh38]
Chr5:112175668 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4918C>G (p.Arg1640Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538804]|Hereditary cancer-predisposing syndrome [RCV001524564] Chr5:112840512 [GRCh38]
Chr5:112176209 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3141A>G (p.Glu1047=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524742] Chr5:112838735 [GRCh38]
Chr5:112174432 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3849T>C (p.Ala1283=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002241004] Chr5:112839443 [GRCh38]
Chr5:112175140 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1572C>T (p.Gly524=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653425] Chr5:112827952 [GRCh38]
Chr5:112163649 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002242786]|Familial adenomatous polyposis 1 [RCV003771229] Chr5:112827107 [GRCh38]
Chr5:112162804 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8397A>G (p.Ser2799=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653461] Chr5:112843991 [GRCh38]
Chr5:112179688 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1524dup (p.Thr509fs) duplication Familial adenomatous polyposis 1 [RCV002242833] Chr5:112827222..112827223 [GRCh38]
Chr5:112162919..112162920 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5490T>C (p.Asn1830=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652242]|Hereditary cancer-predisposing syndrome [RCV002350759] Chr5:112841084 [GRCh38]
Chr5:112176781 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3845C>T (p.Ser1282Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001526308] Chr5:112839439 [GRCh38]
Chr5:112175136 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5667A>G (p.Glu1889=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771460]|Hereditary cancer-predisposing syndrome [RCV002350956] Chr5:112841261 [GRCh38]
Chr5:112176958 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4467A>G (p.Leu1489=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653451] Chr5:112840061 [GRCh38]
Chr5:112175758 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1500del (p.Arg499_Tyr500insTer) deletion Familial adenomatous polyposis 1 [RCV002242909]|Familial multiple polyposis syndrome [RCV001824962]|Hereditary cancer-predisposing syndrome [RCV002395872] Chr5:112827199 [GRCh38]
Chr5:112162896 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.994C>A (p.Arg332=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771393] Chr5:112819026 [GRCh38]
Chr5:112154723 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.864A>T (p.Thr288=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538786]|Hereditary cancer-predisposing syndrome [RCV002449193]|not provided [RCV001539311] Chr5:112815524 [GRCh38]
Chr5:112151221 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5811C>G (p.Ser1937=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653424]|Hereditary cancer-predisposing syndrome [RCV002359016] Chr5:112841405 [GRCh38]
Chr5:112177102 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4671T>C (p.Ile1557=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525424] Chr5:112840265 [GRCh38]
Chr5:112175962 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6802A>G (p.Thr2268Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525455] Chr5:112842396 [GRCh38]
Chr5:112178093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7416T>G (p.Ala2472=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525459] Chr5:112843010 [GRCh38]
Chr5:112178707 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.807C>T (p.Ile269=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240446]|Hereditary cancer-predisposing syndrome [RCV002421072]|not specified [RCV002246388] Chr5:112801356 [GRCh38]
Chr5:112137053 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.4582_4583insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCNNNNNNNNNNAAAAAAAAAAAAGAATAATGCCTCCAG (p.Val1528delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluAlaXaaXaaXaaLysLysLysLysGluTer) insertion Familial adenomatous polyposis 1 [RCV003538775] Chr5:112840159..112840160 [GRCh38]
Chr5:112175856..112175857 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7772_7773del (p.His2591fs) deletion Familial adenomatous polyposis 1 [RCV002551564]|Familial adenomatous polyposis 1 [RCV003652235]|Hereditary cancer-predisposing syndrome [RCV002413917] Chr5:112843366..112843367 [GRCh38]
Chr5:112179063..112179064 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3318A>G (p.Gly1106=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771298] Chr5:112838912 [GRCh38]
Chr5:112174609 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-9A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653448] Chr5:112775620 [GRCh38]
Chr5:112111317 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-12T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653478]|Hereditary cancer-predisposing syndrome [RCV001525542] Chr5:112827917 [GRCh38]
Chr5:112163614 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6540G>T (p.Lys2180Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525583] Chr5:112842134 [GRCh38]
Chr5:112177831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+7T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003771380] Chr5:112780910 [GRCh38]
Chr5:112116607 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4348C>A (p.Arg1450=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771381] Chr5:112839942 [GRCh38]
Chr5:112175639 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2787T>C (p.His929=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538781] Chr5:112838381 [GRCh38]
Chr5:112174078 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3879A>C (p.Thr1293=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771428] Chr5:112839473 [GRCh38]
Chr5:112175170 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.699G>A (p.Gln233=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652247] Chr5:112792499 [GRCh38]
Chr5:112128196 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+9A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003771456] Chr5:112822000 [GRCh38]
Chr5:112157697 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2397T>C (p.Tyr799=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561948]|Hereditary cancer-predisposing syndrome [RCV002456808] Chr5:112837991 [GRCh38]
Chr5:112173688 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8106A>T (p.Ala2702=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745335]|Hereditary cancer-predisposing syndrome [RCV001525726] Chr5:112843700 [GRCh38]
Chr5:112179397 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4914G>A (p.Met1638Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653479]|Hereditary cancer-predisposing syndrome [RCV001525745] Chr5:112840508 [GRCh38]
Chr5:112176205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.779A>G (p.Gln260Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525757] Chr5:112801328 [GRCh38]
Chr5:112137025 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.175G>C (p.Ala59Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525828] Chr5:112766365 [GRCh38]
Chr5:112102062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5274T>C (p.Ser1758=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525851] Chr5:112840868 [GRCh38]
Chr5:112176565 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.478G>T (p.Ala160Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525860] Chr5:112775684 [GRCh38]
Chr5:112111381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4236A>G (p.Gly1412=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240703] Chr5:112839830 [GRCh38]
Chr5:112175527 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1869G>C (p.Arg623=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771470] Chr5:112835076 [GRCh38]
Chr5:112170773 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.831T>C (p.Gly277=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653456] Chr5:112801380 [GRCh38]
Chr5:112137077 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1638del (p.Ser546fs) deletion Familial adenomatous polyposis 1 [RCV003771268] Chr5:112828867 [GRCh38]
Chr5:112164564 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5517T>A (p.Ala1839=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771442] Chr5:112841111 [GRCh38]
Chr5:112176808 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.597G>T (p.Ala199=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653457] Chr5:112780855 [GRCh38]
Chr5:112116552 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3588A>C (p.Ser1196=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653458] Chr5:112839182 [GRCh38]
Chr5:112174879 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+7A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653429] Chr5:112755032 [GRCh38]
Chr5:112090729 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-167dup duplication Familial adenomatous polyposis 1 [RCV003538803] Chr5:112707546..112707547 [GRCh38]
Chr5:112043243..112043244 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.4116A>G (p.Pro1372=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653432]|Hereditary cancer-predisposing syndrome [RCV003346570] Chr5:112839710 [GRCh38]
Chr5:112175407 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1986A>G (p.Leu662=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002240704] Chr5:112837580 [GRCh38]
Chr5:112173277 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6033A>T (p.Ser2011=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653434]|Hereditary cancer-predisposing syndrome [RCV002359046] Chr5:112841627 [GRCh38]
Chr5:112177324 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2586C>T (p.Asn862=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653430] Chr5:112838180 [GRCh38]
Chr5:112173877 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3298dup (p.Ser1100fs) duplication Hereditary cancer-predisposing syndrome [RCV001526055] Chr5:112838889..112838890 [GRCh38]
Chr5:112174586..112174587 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1992T>G (p.Thr664=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652273] Chr5:112837586 [GRCh38]
Chr5:112173283 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6267A>G (p.Glu2089=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236313] Chr5:112841861 [GRCh38]
Chr5:112177558 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-134_-133insG insertion Familial adenomatous polyposis 1 [RCV003771568]|not provided [RCV001562980]|not specified [RCV002476823] Chr5:112707584..112707585 [GRCh38]
Chr5:112043281..112043282 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.5409_5410del (p.Arg1803fs) microsatellite Familial adenomatous polyposis 1 [RCV002242893]|Familial adenomatous polyposis 1 [RCV003771247] Chr5:112840998..112840999 [GRCh38]
Chr5:112176695..112176696 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112090582)_(112137086_?)dup duplication Familial adenomatous polyposis 1 [RCV001378396] Chr5:112090582..112137086 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.9:g.(?_112072721)_(112090732_?)dup duplication Familial adenomatous polyposis 1 [RCV003154028] Chr5:112072721..112090732 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.9:g.(?_112099597)_112162856del deletion Familial adenomatous polyposis 1 [RCV001378398]   likely pathogenic
NC_000005.9:g.(?_112071797)_112137006dup duplication Familial adenomatous polyposis 1 [RCV001378400]   likely pathogenic
NM_000038.6(APC):c.3366T>C (p.Asn1122=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552697]|Hereditary cancer-predisposing syndrome [RCV002456624] Chr5:112838960 [GRCh38]
Chr5:112174657 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2955C>G (p.Ser985=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561290] Chr5:112838549 [GRCh38]
Chr5:112174246 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7670C>G (p.Ser2557Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771573]|Hereditary cancer-predisposing syndrome [RCV001523928] Chr5:112843264 [GRCh38]
Chr5:112178961 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3709C>T (p.Gln1237Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538769]|not specified [RCV001800993] Chr5:112839303 [GRCh38]
Chr5:112175000 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4707T>C (p.Asp1569=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242949] Chr5:112840301 [GRCh38]
Chr5:112175998 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.45A>C (p.Ala15=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002242980]|Hereditary cancer-predisposing syndrome [RCV002341874] Chr5:112754935 [GRCh38]
Chr5:112090632 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4227A>G (p.Pro1409=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652244] Chr5:112839821 [GRCh38]
Chr5:112175518 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1053A>G (p.Gly351=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538791] Chr5:112819085 [GRCh38]
Chr5:112154782 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.852G>T (p.Met284Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001523948] Chr5:112815512 [GRCh38]
Chr5:112151209 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3733A>G (p.Lys1245Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653473]|Hereditary cancer-predisposing syndrome [RCV001523993] Chr5:112839327 [GRCh38]
Chr5:112175024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2961T>C (p.Ser987=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002243027] Chr5:112838555 [GRCh38]
Chr5:112174252 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2202T>C (p.Pro734=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002555136]|Hereditary cancer-predisposing syndrome [RCV002432180] Chr5:112837796 [GRCh38]
Chr5:112173493 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2868C>G (p.Tyr956Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337369] Chr5:112838462 [GRCh38]
Chr5:112174159 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3103C>T (p.Gln1035Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336404]|Hereditary cancer-predisposing syndrome [RCV002322368] Chr5:112838697 [GRCh38]
Chr5:112174394 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.516del (p.Pro173fs) deletion Familial adenomatous polyposis 1 [RCV002242826]|Familial adenomatous polyposis 1 [RCV003771248] Chr5:112775721 [GRCh38]
Chr5:112111418 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5229G>A (p.Val1743=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563356]|Hereditary cancer-predisposing syndrome [RCV002343691] Chr5:112840823 [GRCh38]
Chr5:112176520 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8166G>C (p.Leu2722=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653431] Chr5:112843760 [GRCh38]
Chr5:112179457 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.405A>T (p.Glu135Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524106] Chr5:112767373 [GRCh38]
Chr5:112103070 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532T>C (p.Phe178Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524190] Chr5:112780790 [GRCh38]
Chr5:112116487 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6147A>G (p.Lys2049=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652246]|Hereditary cancer-predisposing syndrome [RCV003346542] Chr5:112841741 [GRCh38]
Chr5:112177438 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2307A>G (p.Leu769=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771365]|Hereditary cancer-predisposing syndrome [RCV002449165] Chr5:112837901 [GRCh38]
Chr5:112173598 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5919T>C (p.Ser1973=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771444] Chr5:112841513 [GRCh38]
Chr5:112177210 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5946A>G (p.Lys1982=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653445] Chr5:112841540 [GRCh38]
Chr5:112177237 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+2TA[5] microsatellite Familial adenomatous polyposis 1 [RCV003771537] Chr5:112835166..112835167 [GRCh38]
Chr5:112170863..112170864 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2789_2790insGT (p.His931fs) insertion Familial adenomatous polyposis 1 [RCV002242897] Chr5:112838383..112838384 [GRCh38]
Chr5:112174080..112174081 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112090588)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV001385948] Chr5:112090588..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112072721)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV002242841] Chr5:112072721..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.988dup (p.Met330fs) duplication Familial adenomatous polyposis 1 [RCV003771263] Chr5:112819019..112819020 [GRCh38]
Chr5:112154716..112154717 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3756T>G (p.Ser1252=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771337]|Hereditary cancer-predisposing syndrome [RCV002350818] Chr5:112839350 [GRCh38]
Chr5:112175047 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7896A>T (p.Ser2632=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771290]|Hereditary cancer-predisposing syndrome [RCV003170007] Chr5:112843490 [GRCh38]
Chr5:112179187 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1068C>T (p.Leu356=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002237186]|Hereditary cancer-predisposing syndrome [RCV001523949] Chr5:112819100 [GRCh38]
Chr5:112154797 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4978C>T (p.Leu1660=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002237185]|Hereditary cancer-predisposing syndrome [RCV002342003] Chr5:112840572 [GRCh38]
Chr5:112176269 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2832T>C (p.Asn944=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538799]|Hereditary cancer-predisposing syndrome [RCV003584970] Chr5:112838426 [GRCh38]
Chr5:112174123 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4728A>G (p.Glu1576=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538795] Chr5:112840322 [GRCh38]
Chr5:112176019 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.930C>G (p.Thr310=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002236329]|Hereditary cancer-predisposing syndrome [RCV003298750] Chr5:112815590 [GRCh38]
Chr5:112151287 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-2A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002550275]|Familial adenomatous polyposis 1 [RCV003336399]|Hereditary cancer-predisposing syndrome [RCV003298629] Chr5:112775627 [GRCh38]
Chr5:112111324 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.537del (p.Leu180fs) deletion Familial adenomatous polyposis 1 [RCV002551538]|Familial adenomatous polyposis 1 [RCV003538771] Chr5:112780794 [GRCh38]
Chr5:112116491 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6936T>G (p.Pro2312=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652236] Chr5:112842530 [GRCh38]
Chr5:112178227 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002242876] Chr5:112827928 [GRCh38]
Chr5:112163625 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3268del (p.Gln1090fs) deletion Familial adenomatous polyposis 1 [RCV003652234] Chr5:112838861 [GRCh38]
Chr5:112174558 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1428A>C (p.Ala476=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653446] Chr5:112827127 [GRCh38]
Chr5:112162824 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2286A>G (p.Ala762=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538792]|Hereditary cancer-predisposing syndrome [RCV002449246] Chr5:112837880 [GRCh38]
Chr5:112173577 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8496G>A (p.Lys2832=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653466]|Hereditary cancer-predisposing syndrome [RCV002449332] Chr5:112844090 [GRCh38]
Chr5:112179787 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-199C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538784] Chr5:112707519 [GRCh38]
Chr5:112043216 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1635G>T (p.Ala545=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771356] Chr5:112828864 [GRCh38]
Chr5:112164561 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2186del (p.Leu729fs) deletion Hereditary cancer-predisposing syndrome [RCV003161038]|not provided [RCV001508526] Chr5:112837780 [GRCh38]
Chr5:112173477 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5328A>G (p.Val1776=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771494] Chr5:112840922 [GRCh38]
Chr5:112176619 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.476_488del (p.Tyr158_Tyr159insTer) deletion Familial adenomatous polyposis 1 [RCV002242901]|Familial adenomatous polyposis 1 [RCV003771253]|Hereditary cancer-predisposing syndrome [RCV002329406]|not provided [RCV002227273] Chr5:112775682..112775694 [GRCh38]
Chr5:112111379..112111391 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4041C>A (p.Ala1347=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003771465]|Hereditary cancer-predisposing syndrome [RCV002324054] Chr5:112839635 [GRCh38]
Chr5:112175332 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5843A>G (p.Asp1948Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745338]|not provided [RCV001528532] Chr5:112841437 [GRCh38]
Chr5:112177134 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.838_844del (p.Ser280fs) deletion Familial adenomatous polyposis 1 [RCV002242832]|Familial adenomatous polyposis 1 [RCV003771252]|not provided [RCV001581114] Chr5:112815498..112815504 [GRCh38]
Chr5:112151195..112151201 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2892A>G (p.Leu964=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003105232] Chr5:112838486 [GRCh38]
Chr5:112174183 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3441C>G (p.Tyr1147Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002244174] Chr5:112839035 [GRCh38]
Chr5:112174732 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6374C>T (p.Ser2125Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002363730]|not specified [RCV002246962] Chr5:112841968 [GRCh38]
Chr5:112177665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6699T>G (p.Ile2233Met) single nucleotide variant not specified [RCV002246964] Chr5:112842293 [GRCh38]
Chr5:112177990 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2776T>C (p.Ser926Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772061]|Hereditary cancer-predisposing syndrome [RCV003584983]|not provided [RCV001755255] Chr5:112838370 [GRCh38]
Chr5:112174067 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7984G>C (p.Glu2662Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534850]|Hereditary cancer-predisposing syndrome [RCV002255905] Chr5:112843578 [GRCh38]
Chr5:112179275 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.457A>C (p.Lys153Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257071] Chr5:112775663 [GRCh38]
Chr5:112111360 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7732T>C (p.Ser2578Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774771]|Hereditary cancer-predisposing syndrome [RCV002257176] Chr5:112843326 [GRCh38]
Chr5:112179023 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.21T>C (p.Asp7=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653590]|Hereditary cancer-predisposing syndrome [RCV002257274] Chr5:112754911 [GRCh38]
Chr5:112090608 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.8172C>G (p.Ser2724=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653588]|Hereditary cancer-predisposing syndrome [RCV002258542] Chr5:112843766 [GRCh38]
Chr5:112179463 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5246A>G (p.Gln1749Arg) single nucleotide variant not provided [RCV001755331] Chr5:112840840 [GRCh38]
Chr5:112176537 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.412G>T (p.Glu138Ter) single nucleotide variant Colorectal cancer [RCV002249248]|Familial adenomatous polyposis 1 [RCV003534846] Chr5:112767380 [GRCh38]
Chr5:112103077 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6858C>T (p.Ala2286=) single nucleotide variant not provided [RCV001727329] Chr5:112842452 [GRCh38]
Chr5:112178149 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.460dup (p.Glu154fs) duplication Familial adenomatous polyposis 1 [RCV001726722] Chr5:112775664..112775665 [GRCh38]
Chr5:112111361..112111362 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3745T>G (p.Cys1249Gly) single nucleotide variant not provided [RCV001755310] Chr5:112839339 [GRCh38]
Chr5:112175036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.430C>T (p.Leu144Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331855]|not specified [RCV002246959] Chr5:112775636 [GRCh38]
Chr5:112111333 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5860T>G (p.Phe1954Val) single nucleotide variant not specified [RCV002246960] Chr5:112841454 [GRCh38]
Chr5:112177151 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3046G>T (p.Asp1016Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653489]|Hereditary cancer-predisposing syndrome [RCV002449419]|not provided [RCV001755387] Chr5:112838640 [GRCh38]
Chr5:112174337 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7193C>A (p.Ser2398Tyr) single nucleotide variant not specified [RCV002246965] Chr5:112842787 [GRCh38]
Chr5:112178484 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3409G>A (p.Asp1137Asn) single nucleotide variant not provided [RCV003127007] Chr5:112839003 [GRCh38]
Chr5:112174700 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3165A>G (p.Ile1055Met) single nucleotide variant not provided [RCV003238613] Chr5:112838759 [GRCh38]
Chr5:112174456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.166-28443T>A single nucleotide variant APC-related condition [RCV003941126]|Hereditary cancer-predisposing syndrome [RCV003315263]|not provided [RCV003238615] Chr5:112737883 [GRCh38]
Chr5:112073580 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.645+2T>C single nucleotide variant Colorectal cancer [RCV002248970] Chr5:112780905 [GRCh38]
Chr5:112116602 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1798del (p.Thr600fs) deletion Colorectal cancer [RCV002249250] Chr5:112835005 [GRCh38]
Chr5:112170702 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4434_4437del (p.Arg1478fs) deletion Colorectal cancer [RCV002249251] Chr5:112840028..112840031 [GRCh38]
Chr5:112175725..112175728 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5534A>G (p.His1845Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470893]|Hereditary cancer-predisposing syndrome [RCV002343843]|not provided [RCV003237593] Chr5:112841128 [GRCh38]
Chr5:112176825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5507G>C (p.Gly1836Ala) single nucleotide variant not provided [RCV003238612] Chr5:112841101 [GRCh38]
Chr5:112176798 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4590A>T (p.Glu1530Asp) single nucleotide variant not provided [RCV001776728] Chr5:112840184 [GRCh38]
Chr5:112175881 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8393C>T (p.Thr2798Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653492]|not provided [RCV001776736] Chr5:112843987 [GRCh38]
Chr5:112179684 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1151G>A (p.Ser384Asn) single nucleotide variant not provided [RCV001776937] Chr5:112819183 [GRCh38]
Chr5:112154880 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.635_636dup (p.Arg213fs) duplication Familial adenomatous polyposis 1 [RCV003337390]|not provided [RCV002251837] Chr5:112780889..112780890 [GRCh38]
Chr5:112116586..112116587 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8423C>T (p.Pro2808Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745351]|not provided [RCV001777107] Chr5:112844017 [GRCh38]
Chr5:112179714 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3783T>G (p.Thr1261=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257060] Chr5:112839377 [GRCh38]
Chr5:112175074 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6772T>G (p.Ser2258Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257136] Chr5:112842366 [GRCh38]
Chr5:112178063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7780T>G (p.Ser2594Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257179] Chr5:112843374 [GRCh38]
Chr5:112179071 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-5_423-4del deletion Hereditary cancer-predisposing syndrome [RCV002258477] Chr5:112775613..112775614 [GRCh38]
Chr5:112111310..112111311 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1349T>G (p.Val450Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258480] Chr5:112821932 [GRCh38]
Chr5:112157629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6502C>G (p.Leu2168Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258503] Chr5:112842096 [GRCh38]
Chr5:112177793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.503del (p.Arg168fs) deletion Familial adenomatous polyposis 1 [RCV003337391]|Hereditary cancer-predisposing syndrome [RCV002259204] Chr5:112775709 [GRCh38]
Chr5:112111406 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6811C>T (p.Pro2271Ser) single nucleotide variant not provided [RCV001759208] Chr5:112842405 [GRCh38]
Chr5:112178102 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4142dup (p.Leu1382fs) duplication not provided [RCV001785952] Chr5:112839732..112839733 [GRCh38]
Chr5:112175429..112175430 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1313-1G>C single nucleotide variant not provided [RCV001784690] Chr5:112821895 [GRCh38]
Chr5:112157592 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8048T>G (p.Ile2683Ser) single nucleotide variant not provided [RCV001759101] Chr5:112843642 [GRCh38]
Chr5:112179339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.219A>G (p.Lys73=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003456243]|not provided [RCV001759213] Chr5:112766409 [GRCh38]
Chr5:112102106 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.1336A>C (p.Ile446Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772073]|not provided [RCV001774832] Chr5:112821919 [GRCh38]
Chr5:112157616 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1120C>A (p.Arg374=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440865]|not provided [RCV001774917] Chr5:112819152 [GRCh38]
Chr5:112154849 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.956T>C (p.Leu319Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743839]|not provided [RCV002280560] Chr5:112818988 [GRCh38]
Chr5:112154685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4865A>G (p.Asn1622Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002334655]|not specified [RCV001733417] Chr5:112840459 [GRCh38]
Chr5:112176156 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1426G>T (p.Ala476Ser) single nucleotide variant not provided [RCV003237598] Chr5:112827125 [GRCh38]
Chr5:112162822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.301G>A (p.Gly101Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440885]|not specified [RCV001801024] Chr5:112767269 [GRCh38]
Chr5:112102966 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.116C>T (p.Thr39Ile) single nucleotide variant not specified [RCV001801032] Chr5:112755006 [GRCh38]
Chr5:112090703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4366A>G (p.Lys1456Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002544382]|not specified [RCV001801025] Chr5:112839960 [GRCh38]
Chr5:112175657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2454del (p.Asn818fs) deletion not provided [RCV001801129] Chr5:112838048 [GRCh38]
Chr5:112173745 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3283C>T (p.Gln1095Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002541343]|Familial adenomatous polyposis 1 [RCV003538820]|Hereditary cancer-predisposing syndrome [RCV002449428]|not provided [RCV001801091] Chr5:112838877 [GRCh38]
Chr5:112174574 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5180G>A (p.Cys1727Tyr) single nucleotide variant not specified [RCV001801133] Chr5:112840774 [GRCh38]
Chr5:112176471 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5291A>G (p.Gln1764Arg) single nucleotide variant not provided [RCV001768056] Chr5:112840885 [GRCh38]
Chr5:112176582 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7568C>G (p.Ala2523Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772091]|Hereditary cancer-predisposing syndrome [RCV002388659]|not provided [RCV001768236] Chr5:112843162 [GRCh38]
Chr5:112178859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1448G>C (p.Cys483Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002388658]|not provided [RCV001753285] Chr5:112827147 [GRCh38]
Chr5:112162844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2566C>A (p.Arg856Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772088]|not provided [RCV001753306] Chr5:112838160 [GRCh38]
Chr5:112173857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8189C>A (p.Ala2730Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772089]|Hereditary cancer-predisposing syndrome [RCV002425064]|not provided [RCV001753310] Chr5:112843783 [GRCh38]
Chr5:112179480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7899T>C (p.Gly2633=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772074]|not provided [RCV001774870] Chr5:112843493 [GRCh38]
Chr5:112179190 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.7397C>A (p.Ser2466Tyr) single nucleotide variant not provided [RCV001774887] Chr5:112842991 [GRCh38]
Chr5:112178688 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.158G>A (p.Gly53Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745348]|Hereditary cancer-predisposing syndrome [RCV002405309]|not provided [RCV001768010] Chr5:112766348 [GRCh38]
Chr5:112102045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4313C>T (p.Thr1438Ile) single nucleotide variant not provided [RCV001768018] Chr5:112839907 [GRCh38]
Chr5:112175604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7209G>T (p.Gln2403His) single nucleotide variant not provided [RCV001776450] Chr5:112842803 [GRCh38]
Chr5:112178500 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1888G>A (p.Ala630Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002540687]|not provided [RCV001768325] Chr5:112835095 [GRCh38]
Chr5:112170792 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3899A>C (p.Asn1300Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003163902]|not provided [RCV001753251] Chr5:112839493 [GRCh38]
Chr5:112175190 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1075C>T (p.Leu359Phe) single nucleotide variant not provided [RCV003238614] Chr5:112819107 [GRCh38]
Chr5:112154804 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3950A>G (p.Glu1317Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772102]|Hereditary cancer-predisposing syndrome [RCV003163906]|not provided [RCV003237594] Chr5:112839544 [GRCh38]
Chr5:112175241 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1486A>C (p.Thr496Pro) single nucleotide variant not provided [RCV003237597] Chr5:112827185 [GRCh38]
Chr5:112162882 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8102A>G (p.Gln2701Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653490]|Hereditary cancer-predisposing syndrome [RCV002422836]|not provided [RCV001753348] Chr5:112843696 [GRCh38]
Chr5:112179393 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4263T>G (p.Ser1421Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745349]|not provided [RCV001753355] Chr5:112839857 [GRCh38]
Chr5:112175554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-126_-125insGA insertion Familial adenomatous polyposis 1 [RCV003772072]|not provided [RCV001766232] Chr5:112707592..112707593 [GRCh38]
Chr5:112043289..112043290 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3256C>A (p.His1086Asn) single nucleotide variant not provided [RCV001758982] Chr5:112838850 [GRCh38]
Chr5:112174547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5957del (p.Pro1986fs) deletion not provided [RCV001816400] Chr5:112841550 [GRCh38]
Chr5:112177247 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3805A>G (p.Ile1269Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772127]|not provided [RCV001777038] Chr5:112839399 [GRCh38]
Chr5:112175096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6425T>A (p.Ile2142Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745354]|Hereditary cancer-predisposing syndrome [RCV001804448] Chr5:112842019 [GRCh38]
Chr5:112177716 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5733A>G (p.Gln1911=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805274] Chr5:112841327 [GRCh38]
Chr5:112177024 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7598C>G (p.Ser2533Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538818]|Hereditary cancer-predisposing syndrome [RCV002388666]|not specified [RCV001779490] Chr5:112843192 [GRCh38]
Chr5:112178889 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3098A>T (p.Asp1033Val) single nucleotide variant not provided [RCV003237596] Chr5:112838692 [GRCh38]
Chr5:112174389 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3616A>T (p.Ser1206Cys) single nucleotide variant not provided [RCV003237595] Chr5:112839210 [GRCh38]
Chr5:112174907 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1920G>A (p.Arg640=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772240]|Hereditary cancer-predisposing syndrome [RCV001805377] Chr5:112835127 [GRCh38]
Chr5:112170824 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8508G>A (p.Gly2836=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745357]|Hereditary cancer-predisposing syndrome [RCV001805605] Chr5:112844102 [GRCh38]
Chr5:112179799 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4013A>C (p.Gln1338Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV001771821] Chr5:112839607 [GRCh38]
Chr5:112175304 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1775T>G (p.Leu592Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337370]|Hereditary cancer-predisposing syndrome [RCV002397750]|not provided [RCV001801038] Chr5:112834982 [GRCh38]
Chr5:112170679 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.423-6_423-4del deletion Hereditary cancer-predisposing syndrome [RCV002329760]|not provided [RCV001801145] Chr5:112775613..112775615 [GRCh38]
Chr5:112111310..112111312 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1601A>G (p.Lys534Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV001789838]|Familial adenomatous polyposis 1 [RCV003745352] Chr5:112827981 [GRCh38]
Chr5:112163678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4715T>G (p.Ile1572Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804491] Chr5:112840309 [GRCh38]
Chr5:112176006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8405C>A (p.Pro2802Gln) single nucleotide variant not provided [RCV001757568] Chr5:112843999 [GRCh38]
Chr5:112179696 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6981C>A (p.Asn2327Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772115]|not provided [RCV001776665] Chr5:112842575 [GRCh38]
Chr5:112178272 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1570G>T (p.Gly524Cys) single nucleotide variant not provided [RCV001776956] Chr5:112827950 [GRCh38]
Chr5:112163647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7037C>T (p.Pro2346Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745358]|not specified [RCV001817301] Chr5:112842631 [GRCh38]
Chr5:112178328 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-11T>G single nucleotide variant not provided [RCV001768400] Chr5:112815484 [GRCh38]
Chr5:112151181 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8009G>A (p.Arg2670Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653491]|Hereditary cancer-predisposing syndrome [RCV002422844]|not provided [RCV001776681] Chr5:112843603 [GRCh38]
Chr5:112179300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4451A>G (p.Asp1484Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772119]|not provided [RCV001776762] Chr5:112840045 [GRCh38]
Chr5:112175742 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8105C>T (p.Ala2702Val) single nucleotide variant not provided [RCV001776768] Chr5:112843699 [GRCh38]
Chr5:112179396 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2573T>C (p.Ile858Thr) single nucleotide variant Desmoid disease, hereditary [RCV002482299]|Familial adenomatous polyposis 1 [RCV003538817]|Hereditary cancer-predisposing syndrome [RCV002458605]|not provided [RCV001777101] Chr5:112838167 [GRCh38]
Chr5:112173864 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4532T>G (p.Leu1511Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804423] Chr5:112840126 [GRCh38]
Chr5:112175823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5212C>T (p.His1738Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804569] Chr5:112840806 [GRCh38]
Chr5:112176503 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4525_4526del (p.Leu1509fs) microsatellite Familial adenomatous polyposis 1 [RCV003336440]|Hereditary cancer-predisposing syndrome [RCV001804650] Chr5:112840117..112840118 [GRCh38]
Chr5:112175814..112175815 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2434G>T (p.Asp812Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745355]|Hereditary cancer-predisposing syndrome [RCV001805236] Chr5:112838028 [GRCh38]
Chr5:112173725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4239G>A (p.Met1413Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772226]|Hereditary cancer-predisposing syndrome [RCV001804361] Chr5:112839833 [GRCh38]
Chr5:112175530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2984G>T (p.Cys995Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745356]|Hereditary cancer-predisposing syndrome [RCV001805478] Chr5:112838578 [GRCh38]
Chr5:112174275 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5972A>G (p.Glu1991Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653497]|Hereditary cancer-predisposing syndrome [RCV001805511] Chr5:112841566 [GRCh38]
Chr5:112177263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3547T>C (p.Tyr1183His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805256] Chr5:112839141 [GRCh38]
Chr5:112174838 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4289C>G (p.Thr1430Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538823]|Hereditary cancer-predisposing syndrome [RCV001805507] Chr5:112839883 [GRCh38]
Chr5:112175580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1825del (p.Ala608_Val609insTer) deletion not provided [RCV001811735] Chr5:112835032 [GRCh38]
Chr5:112170729 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6820G>A (p.Ala2274Thr) single nucleotide variant not specified [RCV001819520] Chr5:112842414 [GRCh38]
Chr5:112178111 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+509G>A single nucleotide variant not provided [RCV001812601]|not specified [RCV003320846] Chr5:112738434 [GRCh38]
Chr5:112074131 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2941C>T (p.Pro981Ser) single nucleotide variant not specified [RCV001820341] Chr5:112838535 [GRCh38]
Chr5:112174232 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7301G>A (p.Arg2434Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804588] Chr5:112842895 [GRCh38]
Chr5:112178592 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4254A>C (p.Ile1418=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538821]|Hereditary cancer-predisposing syndrome [RCV001804498] Chr5:112839848 [GRCh38]
Chr5:112175545 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8216A>T (p.Lys2739Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653495]|Hereditary cancer-predisposing syndrome [RCV001804549] Chr5:112843810 [GRCh38]
Chr5:112179507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5317A>C (p.Thr1773Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805429] Chr5:112840911 [GRCh38]
Chr5:112176608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8428A>G (p.Asn2810Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805510] Chr5:112844022 [GRCh38]
Chr5:112179719 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6992C>T (p.Pro2331Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805431] Chr5:112842586 [GRCh38]
Chr5:112178283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.87T>C (p.Asp29=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003633602]|Hereditary cancer-predisposing syndrome [RCV001805588] Chr5:112754977 [GRCh38]
Chr5:112090674 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3817A>T (p.Arg1273Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772207]|not provided [RCV001811703] Chr5:112839411 [GRCh38]
Chr5:112175108 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6230_6236del (p.Thr2077fs) deletion Hereditary cancer-predisposing syndrome [RCV002361080]|not provided [RCV001818006] Chr5:112841821..112841827 [GRCh38]
Chr5:112177518..112177524 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3585T>C (p.Phe1195=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805576] Chr5:112839179 [GRCh38]
Chr5:112174876 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3219A>C (p.Thr1073=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772252]|Hereditary cancer-predisposing syndrome [RCV001805690] Chr5:112838813 [GRCh38]
Chr5:112174510 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2162del (p.Gly721fs) deletion not provided [RCV001811854] Chr5:112837754 [GRCh38]
Chr5:112173451 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.396A>G (p.Gly132=) single nucleotide variant not specified [RCV001820732] Chr5:112767364 [GRCh38]
Chr5:112103061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1488A>G (p.Thr496=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804578] Chr5:112827187 [GRCh38]
Chr5:112162884 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3602C>T (p.Ser1201Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805320] Chr5:112839196 [GRCh38]
Chr5:112174893 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5650G>A (p.Ala1884Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805382]|not specified [RCV002469413] Chr5:112841244 [GRCh38]
Chr5:112176941 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5030G>A (p.Gly1677Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805466] Chr5:112840624 [GRCh38]
Chr5:112176321 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3682C>G (p.Gln1228Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745471] Chr5:112839276 [GRCh38]
Chr5:112174973 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8525C>G (p.Ser2842Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001889376]|Hereditary cancer-predisposing syndrome [RCV003166962] Chr5:112844119 [GRCh38]
Chr5:112179816 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-13G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653494]|Hereditary cancer-predisposing syndrome [RCV001804547] Chr5:112815482 [GRCh38]
Chr5:112151179 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4328_4335del (p.Pro1443fs) deletion Familial adenomatous polyposis 1 [RCV001808189] Chr5:112839922..112839929 [GRCh38]
Chr5:112175619..112175626 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1710A>C (p.Lys570Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804642]|not specified [RCV002268573] Chr5:112828939 [GRCh38]
Chr5:112164636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804299] Chr5:112754890 [GRCh38]
Chr5:112090587 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.797T>C (p.Val266Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745353]|Hereditary cancer-predisposing syndrome [RCV001804407] Chr5:112801346 [GRCh38]
Chr5:112137043 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.595G>A (p.Ala199Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538822]|Hereditary cancer-predisposing syndrome [RCV001804612] Chr5:112780853 [GRCh38]
Chr5:112116550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.635A>G (p.Lys212Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804622] Chr5:112780893 [GRCh38]
Chr5:112116590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5724T>C (p.Asn1908=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804637] Chr5:112841318 [GRCh38]
Chr5:112177015 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1616A>T (p.Asp539Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804686] Chr5:112827996 [GRCh38]
Chr5:112163693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6486T>G (p.Asn2162Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653496]|Hereditary cancer-predisposing syndrome [RCV001805353] Chr5:112842080 [GRCh38]
Chr5:112177777 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5578G>A (p.Asp1860Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002542403]|Hereditary cancer-predisposing syndrome [RCV001805503] Chr5:112841172 [GRCh38]
Chr5:112176869 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-13T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805684] Chr5:112801266 [GRCh38]
Chr5:112136963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7477C>G (p.Leu2493Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773060]|Hereditary cancer-predisposing syndrome [RCV002388963] Chr5:112843071 [GRCh38]
Chr5:112178768 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707337G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003772446] Chr5:112707337 [GRCh38]
Chr5:112043034 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5242G>T (p.Asp1748Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772699] Chr5:112840836 [GRCh38]
Chr5:112176533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5117C>T (p.Ser1706Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773096] Chr5:112840711 [GRCh38]
Chr5:112176408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7237A>C (p.Lys2413Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003464226] Chr5:112842831 [GRCh38]
Chr5:112178528 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.46C>G (p.Leu16Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653537] Chr5:112754936 [GRCh38]
Chr5:112090633 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3637T>A (p.Ser1213Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772459] Chr5:112839231 [GRCh38]
Chr5:112174928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3642del (p.Ser1214fs) deletion Familial adenomatous polyposis 1 [RCV001987800]|Familial adenomatous polyposis 1 [RCV003471101]|Hereditary cancer-predisposing syndrome [RCV002344100] Chr5:112839236 [GRCh38]
Chr5:112174933 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8288G>C (p.Ser2763Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773039] Chr5:112843882 [GRCh38]
Chr5:112179579 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6747A>C (p.Lys2249Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745434] Chr5:112842341 [GRCh38]
Chr5:112178038 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707382A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773263] Chr5:112707382 [GRCh38]
Chr5:112043079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+4A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003773029] Chr5:112775741 [GRCh38]
Chr5:112111438 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5992G>A (p.Glu1998Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772443] Chr5:112841586 [GRCh38]
Chr5:112177283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.535T>G (p.Ser179Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653524] Chr5:112780793 [GRCh38]
Chr5:112116490 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6724A>T (p.Ser2242Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002592523] Chr5:112842318 [GRCh38]
Chr5:112178015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5806T>C (p.Ser1936Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745500] Chr5:112841400 [GRCh38]
Chr5:112177097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1379A>G (p.Glu460Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV001971048]|Hereditary cancer-predisposing syndrome [RCV002386844] Chr5:112821962 [GRCh38]
Chr5:112157659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7669T>A (p.Ser2557Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563486] Chr5:112843263 [GRCh38]
Chr5:112178960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707428C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745502] Chr5:112707428 [GRCh38]
Chr5:112043125 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2327T>C (p.Ile776Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653515] Chr5:112837921 [GRCh38]
Chr5:112173618 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.104G>C (p.Arg35Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773392] Chr5:112707821 [GRCh38]
Chr5:112043518 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4892G>A (p.Ser1631Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773466] Chr5:112840486 [GRCh38]
Chr5:112176183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.222G>T (p.Glu74Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV001968365] Chr5:112767190 [GRCh38]
Chr5:112102887 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6237_6241del (p.Asp2079fs) deletion Familial adenomatous polyposis 1 [RCV003772447] Chr5:112841827..112841831 [GRCh38]
Chr5:112177524..112177528 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3338A>T (p.Asn1113Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002592517]|Hereditary cancer-predisposing syndrome [RCV002324440] Chr5:112838932 [GRCh38]
Chr5:112174629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1605dup (p.Glu536Ter) duplication Familial adenomatous polyposis 1 [RCV001849577] Chr5:112827984..112827985 [GRCh38]
Chr5:112163681..112163682 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1378G>C (p.Glu460Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548957] Chr5:112821961 [GRCh38]
Chr5:112157658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-127_-126dup duplication Familial adenomatous polyposis 1 [RCV003534770] Chr5:112707585..112707586 [GRCh38]
Chr5:112043282..112043283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112072721)_(112073585_?)del deletion Familial adenomatous polyposis 1 [RCV001864645] Chr5:112072721..112073585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112136966)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV001864649] Chr5:112136966..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-3C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534815] Chr5:112707715 [GRCh38]
Chr5:112043412 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.804A>C (p.Glu268Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773016] Chr5:112801353 [GRCh38]
Chr5:112137050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5906T>G (p.Leu1969Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745519]|Hereditary cancer-predisposing syndrome [RCV002352731] Chr5:112841500 [GRCh38]
Chr5:112177197 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3539G>T (p.Ser1180Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772573] Chr5:112839133 [GRCh38]
Chr5:112174830 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707363_112707364delinsCT indel Familial adenomatous polyposis 1 [RCV003773207] Chr5:112707363..112707364 [GRCh38]
Chr5:112043060..112043061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1036T>G (p.Ser346Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653504]|Hereditary cancer-predisposing syndrome [RCV002388726] Chr5:112819068 [GRCh38]
Chr5:112154765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707486TC[1] microsatellite Familial adenomatous polyposis 1 [RCV003772704] Chr5:112707485..112707486 [GRCh38]
Chr5:112043182..112043183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4340A>C (p.Gln1447Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773218] Chr5:112839934 [GRCh38]
Chr5:112175631 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4691T>G (p.Leu1564Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337375] Chr5:112840285 [GRCh38]
Chr5:112175982 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-18C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773424] Chr5:112707700 [GRCh38]
Chr5:112043397 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7495G>A (p.Val2499Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745397]|Hereditary cancer-predisposing syndrome [RCV002388765] Chr5:112843089 [GRCh38]
Chr5:112178786 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707449G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773421] Chr5:112707449 [GRCh38]
Chr5:112043146 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1390C>T (p.His464Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745365] Chr5:112821973 [GRCh38]
Chr5:112157670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2938A>G (p.Lys980Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571373]|Hereditary cancer-predisposing syndrome [RCV002441142] Chr5:112838532 [GRCh38]
Chr5:112174229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+3A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745363] Chr5:112775740 [GRCh38]
Chr5:112111437 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.6260A>T (p.Asp2087Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745388] Chr5:112841854 [GRCh38]
Chr5:112177551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+809T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745501] Chr5:112816402 [GRCh38]
Chr5:112152099 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.6412C>G (p.Leu2138Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534782] Chr5:112842006 [GRCh38]
Chr5:112177703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8171C>G (p.Ser2724Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773372] Chr5:112843765 [GRCh38]
Chr5:112179462 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660) copy number loss not specified [RCV002053518] Chr5:111443783..116255660 [GRCh37]
Chr5:5q22.1-23.1		 pathogenic
GRCh37/hg19 5q22.2-22.3(chr5:111676467-113755797) copy number loss not specified [RCV002053519] Chr5:111676467..113755797 [GRCh37]
Chr5:5q22.2-22.3		 pathogenic
NM_000038.6(APC):c.3250G>A (p.Asp1084Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773101]|Hereditary cancer-predisposing syndrome [RCV002324429] Chr5:112838844 [GRCh38]
Chr5:112174541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6471A>C (p.Lys2157Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552887] Chr5:112842065 [GRCh38]
Chr5:112177762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2609C>T (p.Pro870Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772455] Chr5:112838203 [GRCh38]
Chr5:112173900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7153T>G (p.Ser2385Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773171] Chr5:112842747 [GRCh38]
Chr5:112178444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-29_-24dup duplication Familial adenomatous polyposis 1 [RCV003653509] Chr5:112707687..112707688 [GRCh38]
Chr5:112043384..112043385 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5148_5151del (p.Asn1716fs) deletion Familial adenomatous polyposis 1 [RCV002554256]|Familial adenomatous polyposis 1 [RCV003337374] Chr5:112840740..112840743 [GRCh38]
Chr5:112176437..112176440 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5384C>T (p.Ser1795Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772444] Chr5:112840978 [GRCh38]
Chr5:112176675 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7621_7625del (p.Pro2540_Ile2541insTer) deletion Familial adenomatous polyposis 1 [RCV003772578] Chr5:112843214..112843218 [GRCh38]
Chr5:112178911..112178915 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.454G>C (p.Glu152Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773344]|Hereditary cancer-predisposing syndrome [RCV002331607] Chr5:112775660 [GRCh38]
Chr5:112111357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707393C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002560535] Chr5:112707393 [GRCh38]
Chr5:112043090 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.744C>A (p.Asn248Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772507] Chr5:112801293 [GRCh38]
Chr5:112136990 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7113A>G (p.Arg2371=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773449] Chr5:112842707 [GRCh38]
Chr5:112178404 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4196G>A (p.Arg1399His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534791]|Hereditary cancer-predisposing syndrome [RCV002331439] Chr5:112839790 [GRCh38]
Chr5:112175487 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.254del (p.Val85fs) deletion Familial adenomatous polyposis 1 [RCV002564396]|Familial adenomatous polyposis 1 [RCV003336484] Chr5:112767222 [GRCh38]
Chr5:112102919 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-85C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773188] Chr5:112707633 [GRCh38]
Chr5:112043330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1726G>A (p.Ala576Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745408] Chr5:112828955 [GRCh38]
Chr5:112164652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1009dup (p.Met337fs) duplication Familial adenomatous polyposis 1 [RCV003772559] Chr5:112819040..112819041 [GRCh38]
Chr5:112154737..112154738 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5041T>A (p.Ser1681Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653541] Chr5:112840635 [GRCh38]
Chr5:112176332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.632A>G (p.Glu211Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552891]|Familial adenomatous polyposis 1 [RCV003534767] Chr5:112780890 [GRCh38]
Chr5:112116587 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5562C>G (p.Tyr1854Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772748] Chr5:112841156 [GRCh38]
Chr5:112176853 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1322_1331del (p.Pro441fs) deletion Familial adenomatous polyposis 1 [RCV003772862] Chr5:112821905..112821914 [GRCh38]
Chr5:112157602..112157611 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.423-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002564397]|Familial adenomatous polyposis 1 [RCV003534806]|Hereditary cancer-predisposing syndrome [RCV002331534] Chr5:112775627 [GRCh38]
Chr5:112111324 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-161T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003773396] Chr5:112707557 [GRCh38]
Chr5:112043254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7801A>C (p.Ser2601Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745382] Chr5:112843395 [GRCh38]
Chr5:112179092 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1273G>A (p.Glu425Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745507] Chr5:112819305 [GRCh38]
Chr5:112155002 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5475T>G (p.Asp1825Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745489] Chr5:112841069 [GRCh38]
Chr5:112176766 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7343C>G (p.Pro2448Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772906]|Hereditary cancer-predisposing syndrome [RCV002386778] Chr5:112842937 [GRCh38]
Chr5:112178634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-69G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773319] Chr5:112707649 [GRCh38]
Chr5:112043346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707326A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003772644] Chr5:112707326 [GRCh38]
Chr5:112043023 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6949T>A (p.Leu2317Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745480]|Hereditary cancer-predisposing syndrome [RCV002361335] Chr5:112842543 [GRCh38]
Chr5:112178240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707402A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003745492] Chr5:112707402 [GRCh38]
Chr5:112043099 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5849A>G (p.Lys1950Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534811] Chr5:112841443 [GRCh38]
Chr5:112177140 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6203T>A (p.Met2068Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002556372] Chr5:112841797 [GRCh38]
Chr5:112177494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1382A>T (p.Glu461Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653551] Chr5:112821965 [GRCh38]
Chr5:112157662 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707355A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002548924] Chr5:112707355 [GRCh38]
Chr5:112043052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7552_7554del (p.Asn2518del) deletion Familial adenomatous polyposis 1 [RCV003772762] Chr5:112843144..112843146 [GRCh38]
Chr5:112178841..112178843 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3714_3717del (p.Ser1238fs) deletion Familial adenomatous polyposis 1 [RCV003772646] Chr5:112839308..112839311 [GRCh38]
Chr5:112175005..112175008 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5844T>G (p.Asp1948Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773118] Chr5:112841438 [GRCh38]
Chr5:112177135 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.206T>A (p.Leu69Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653536] Chr5:112766396 [GRCh38]
Chr5:112102093 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3388T>C (p.Cys1130Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772869]|Hereditary cancer-predisposing syndrome [RCV003365577] Chr5:112838982 [GRCh38]
Chr5:112174679 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2082C>A (p.Asp694Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653530] Chr5:112837676 [GRCh38]
Chr5:112173373 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3902C>A (p.Thr1301Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745482] Chr5:112839496 [GRCh38]
Chr5:112175193 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.120C>T (p.Ser40=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772451] Chr5:112707837 [GRCh38]
Chr5:112043534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4199del (p.Arg1399_Ser1400insTer) deletion Familial adenomatous polyposis 1 [RCV003772758] Chr5:112839793 [GRCh38]
Chr5:112175490 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7940T>C (p.Met2647Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745390]|Hereditary cancer-predisposing syndrome [RCV002258321] Chr5:112843534 [GRCh38]
Chr5:112179231 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336448]|Hepatoblastoma [RCV001843902] Chr5:112839341 [GRCh38]
Chr5:112175038 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_001127511.3(APC):c.-100G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773457] Chr5:112707618 [GRCh38]
Chr5:112043315 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5878C>A (p.Pro1960Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772917] Chr5:112841472 [GRCh38]
Chr5:112177169 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+2_1743+3insGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAGTTAAAAAGGT insertion Familial adenomatous polyposis 1 [RCV003745396] Chr5:112828959..112828960 [GRCh38]
Chr5:112164656..112164657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1959-7_1964del deletion Familial adenomatous polyposis 1 [RCV003773331] Chr5:112837545..112837557 [GRCh38]
Chr5:112173242..112173254 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6494C>G (p.Pro2165Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772590] Chr5:112842088 [GRCh38]
Chr5:112177785 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2884G>C (p.Asp962His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772908] Chr5:112838478 [GRCh38]
Chr5:112174175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112169968)_(112170785_?)del deletion Familial adenomatous polyposis 1 [RCV001988558] Chr5:112169968..112170785 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6363T>A (p.Ala2121=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745468]|Hereditary cancer-predisposing syndrome [RCV003585173] Chr5:112841957 [GRCh38]
Chr5:112177654 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.436G>C (p.Ala146Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571216] Chr5:112775642 [GRCh38]
Chr5:112111339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707479C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745459] Chr5:112707479 [GRCh38]
Chr5:112043176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.870T>A (p.Ser290Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772579] Chr5:112815530 [GRCh38]
Chr5:112151227 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2913T>A (p.Asp971Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772872] Chr5:112838507 [GRCh38]
Chr5:112174204 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6578A>C (p.Lys2193Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745385] Chr5:112842172 [GRCh38]
Chr5:112177869 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6490G>T (p.Gly2164Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772520]|Hereditary cancer-predisposing syndrome [RCV002361106] Chr5:112842084 [GRCh38]
Chr5:112177781 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3272C>G (p.Pro1091Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002290781]|Familial adenomatous polyposis 1 [RCV003772521] Chr5:112838866 [GRCh38]
Chr5:112174563 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3997A>C (p.Lys1333Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773260]|Hereditary cancer-predisposing syndrome [RCV002370675] Chr5:112839591 [GRCh38]
Chr5:112175288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707362T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745442] Chr5:112707362 [GRCh38]
Chr5:112043059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7079G>C (p.Gly2360Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745429] Chr5:112842673 [GRCh38]
Chr5:112178370 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4879del (p.Gln1627fs) deletion Familial adenomatous polyposis 1 [RCV003534759] Chr5:112840470 [GRCh38]
Chr5:112176167 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.161G>C (p.Trp54Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772626] Chr5:112707878 [GRCh38]
Chr5:112043575 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.724G>T (p.Ala242Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745395] Chr5:112792524 [GRCh38]
Chr5:112128221 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4505G>A (p.Cys1502Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773428] Chr5:112840099 [GRCh38]
Chr5:112175796 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2842_2846del (p.Ser948fs) deletion Familial adenomatous polyposis 1 [RCV003772689] Chr5:112838435..112838439 [GRCh38]
Chr5:112174132..112174136 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1652T>A (p.Leu551Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772956] Chr5:112828881 [GRCh38]
Chr5:112164578 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4456G>A (p.Asp1486Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745407]|Hereditary cancer-predisposing syndrome [RCV002331409] Chr5:112840050 [GRCh38]
Chr5:112175747 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.172G>A (p.Glu58Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553571]|Hereditary cancer-predisposing syndrome [RCV002407009] Chr5:112766362 [GRCh38]
Chr5:112102059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+4T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV001947199] Chr5:112835169 [GRCh38]
Chr5:112170866 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-494C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003772734]|Hereditary cancer-predisposing syndrome [RCV002386689] Chr5:112800785 [GRCh38]
Chr5:112136482 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|uncertain significance
NM_000038.6(APC):c.1190A>C (p.Asp397Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745523] Chr5:112819222 [GRCh38]
Chr5:112154919 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112102013)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV001964649] Chr5:112102013..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7096T>C (p.Tyr2366His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772642] Chr5:112842690 [GRCh38]
Chr5:112178387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7766A>C (p.Glu2589Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745373]|Hereditary cancer-predisposing syndrome [RCV002406981] Chr5:112843360 [GRCh38]
Chr5:112179057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2534G>C (p.Arg845Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745496]|Hereditary cancer-predisposing syndrome [RCV003339871] Chr5:112838128 [GRCh38]
Chr5:112173825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8315C>T (p.Ser2772Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745466] Chr5:112843909 [GRCh38]
Chr5:112179606 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1997_1998del (p.Leu666fs) deletion Familial adenomatous polyposis 1 [RCV003772931] Chr5:112837591..112837592 [GRCh38]
Chr5:112173288..112173289 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5068A>C (p.Ile1690Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772909] Chr5:112840662 [GRCh38]
Chr5:112176359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-7G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538824] Chr5:112707711 [GRCh38]
Chr5:112043408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-189G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745525] Chr5:112707529 [GRCh38]
Chr5:112043226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6193C>A (p.Pro2065Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745475] Chr5:112841787 [GRCh38]
Chr5:112177484 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.584A>T (p.Gln195Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002557700] Chr5:112780842 [GRCh38]
Chr5:112116539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6119A>G (p.Gln2040Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772715] Chr5:112841713 [GRCh38]
Chr5:112177410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6547T>C (p.Ser2183Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745524] Chr5:112842141 [GRCh38]
Chr5:112177838 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6911C>G (p.Ser2304Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653520]|Hereditary cancer-predisposing syndrome [RCV002361230] Chr5:112842505 [GRCh38]
Chr5:112178202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707400G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV001891530] Chr5:112707400 [GRCh38]
Chr5:112043097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3338dup (p.Asn1113fs) duplication Familial adenomatous polyposis 1 [RCV003772948] Chr5:112838929..112838930 [GRCh38]
Chr5:112174626..112174627 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-95C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534816] Chr5:112707623 [GRCh38]
Chr5:112043320 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.18C>T (p.Gly6=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773347] Chr5:112707735 [GRCh38]
Chr5:112043432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2060T>C (p.Leu687Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002555726] Chr5:112837654 [GRCh38]
Chr5:112173351 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1804A>T (p.Asn602Tyr) single nucleotide variant APC-Associated Polyposis Disorders [RCV001825229] Chr5:112835011 [GRCh38]
Chr5:112170708 [GRCh37]
Chr5:5q22.2		 not provided
NM_001127511.3(APC):c.164A>G (p.Gln55Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773181] Chr5:112707881 [GRCh38]
Chr5:112043578 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4596C>G (p.Asp1532Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773180] Chr5:112840190 [GRCh38]
Chr5:112175887 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.32C>G (p.Ala11Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773358] Chr5:112707749 [GRCh38]
Chr5:112043446 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2788A>T (p.Thr930Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773404] Chr5:112838382 [GRCh38]
Chr5:112174079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-188C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002550434]|not provided [RCV003161239] Chr5:112707530 [GRCh38]
Chr5:112043227 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8117T>C (p.Val2706Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772755] Chr5:112843711 [GRCh38]
Chr5:112179408 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) copy number loss not specified [RCV002053511] Chr5:93650000..114969108 [GRCh37]
Chr5:5q15-22.3		 pathogenic
NM_001127511.3(APC):c.141T>A (p.Ser47=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548974] Chr5:112707858 [GRCh38]
Chr5:112043555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6718T>C (p.Ser2240Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV001965754] Chr5:112842312 [GRCh38]
Chr5:112178009 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6307G>C (p.Ala2103Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV001964201]|Hereditary cancer-predisposing syndrome [RCV002361325] Chr5:112841901 [GRCh38]
Chr5:112177598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4276dup (p.Ser1426fs) duplication Familial adenomatous polyposis 1 [RCV003534763] Chr5:112839869..112839870 [GRCh38]
Chr5:112175566..112175567 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5168T>G (p.Ile1723Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773401]|Hereditary cancer-predisposing syndrome [RCV002337140] Chr5:112840762 [GRCh38]
Chr5:112176459 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-58T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002579664] Chr5:112707660 [GRCh38]
Chr5:112043357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4599T>G (p.Asn1533Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773202] Chr5:112840193 [GRCh38]
Chr5:112175890 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7436C>T (p.Ala2479Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550450]|Hereditary cancer-predisposing syndrome [RCV002386919] Chr5:112843030 [GRCh38]
Chr5:112178727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548+4T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653513] Chr5:112827251 [GRCh38]
Chr5:112162948 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6760A>T (p.Lys2254Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337376]|Hereditary cancer-predisposing syndrome [RCV002361226] Chr5:112842354 [GRCh38]
Chr5:112178051 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7987G>T (p.Asp2663Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534764] Chr5:112843581 [GRCh38]
Chr5:112179278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707317G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003772593] Chr5:112707317 [GRCh38]
Chr5:112043014 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4978C>G (p.Leu1660Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV001892575] Chr5:112840572 [GRCh38]
Chr5:112176269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2104G>C (p.Gly702Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773441] Chr5:112837698 [GRCh38]
Chr5:112173395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7949C>A (p.Ala2650Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773378] Chr5:112843543 [GRCh38]
Chr5:112179240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4925_4926del (p.Tyr1642fs) deletion Familial adenomatous polyposis 1 [RCV003745430] Chr5:112840518..112840519 [GRCh38]
Chr5:112176215..112176216 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4755A>G (p.Thr1585=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653499]|Hereditary cancer-predisposing syndrome [RCV003584993]|not specified [RCV001844463] Chr5:112840349 [GRCh38]
Chr5:112176046 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8018G>A (p.Arg2673Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653511] Chr5:112843612 [GRCh38]
Chr5:112179309 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1591G>A (p.Ala531Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745498]|Hereditary cancer-predisposing syndrome [RCV002398061] Chr5:112827971 [GRCh38]
Chr5:112163668 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8039C>T (p.Pro2680Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772975] Chr5:112843633 [GRCh38]
Chr5:112179330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4874A>C (p.Gln1625Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745398] Chr5:112840468 [GRCh38]
Chr5:112176165 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6663G>A (p.Met2221Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002555323]|Familial adenomatous polyposis 1 [RCV003534783] Chr5:112842257 [GRCh38]
Chr5:112177954 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6554G>C (p.Ser2185Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745528] Chr5:112842148 [GRCh38]
Chr5:112177845 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1973A>T (p.Glu658Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745460]|Hereditary cancer-predisposing syndrome [RCV002423151] Chr5:112837567 [GRCh38]
Chr5:112173264 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.13C>G (p.Leu5Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773348] Chr5:112707730 [GRCh38]
Chr5:112043427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1557_1561del (p.Cys520fs) deletion Familial adenomatous polyposis 1 [RCV003534784] Chr5:112827934..112827938 [GRCh38]
Chr5:112163631..112163635 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.184T>C (p.Ser62Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772866] Chr5:112766374 [GRCh38]
Chr5:112102071 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1855A>G (p.Thr619Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552847] Chr5:112835062 [GRCh38]
Chr5:112170759 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5987A>G (p.Gln1996Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745399] Chr5:112841581 [GRCh38]
Chr5:112177278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707320C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003772962] Chr5:112707320 [GRCh38]
Chr5:112043017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3011T>C (p.Leu1004Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745531]|Hereditary cancer-predisposing syndrome [RCV002441227] Chr5:112838605 [GRCh38]
Chr5:112174302 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2276C>T (p.Ala759Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773345] Chr5:112837870 [GRCh38]
Chr5:112173567 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707453C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534789] Chr5:112707453 [GRCh38]
Chr5:112043150 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8095G>A (p.Asp2699Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772740] Chr5:112843689 [GRCh38]
Chr5:112179386 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3331G>C (p.Glu1111Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534768] Chr5:112838925 [GRCh38]
Chr5:112174622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+5A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002002281] Chr5:112801388 [GRCh38]
Chr5:112137085 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4513A>G (p.Ser1505Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773139] Chr5:112840107 [GRCh38]
Chr5:112175804 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.156A>G (p.Gln52=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653502]|Hereditary cancer-predisposing syndrome [RCV002397797] Chr5:112766346 [GRCh38]
Chr5:112102043 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.386A>T (p.Glu129Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002569329]|Hereditary cancer-predisposing syndrome [RCV002361327] Chr5:112767354 [GRCh38]
Chr5:112103051 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NC_000005.10:g.112707374A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003772594] Chr5:112707374 [GRCh38]
Chr5:112043071 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2508_2514del (p.Ser837fs) deletion Familial adenomatous polyposis 1 [RCV003772822] Chr5:112838102..112838108 [GRCh38]
Chr5:112173799..112173805 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.220+5A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002007069] Chr5:112766415 [GRCh38]
Chr5:112102112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7204A>G (p.Asn2402Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745443] Chr5:112842798 [GRCh38]
Chr5:112178495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7494T>A (p.Ser2498=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772453]|Hereditary cancer-predisposing syndrome [RCV002388708] Chr5:112843088 [GRCh38]
Chr5:112178785 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NC_000005.10:g.112707456G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002022275] Chr5:112707456 [GRCh38]
Chr5:112043153 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1719G>T (p.Met573Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745410] Chr5:112828948 [GRCh38]
Chr5:112164645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6102del (p.Glu2035fs) deletion Familial adenomatous polyposis 1 [RCV003772884]|Hereditary cancer-predisposing syndrome [RCV002352610] Chr5:112841696 [GRCh38]
Chr5:112177393 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3187A>G (p.Ser1063Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773422]|Hereditary cancer-predisposing syndrome [RCV002324488] Chr5:112838781 [GRCh38]
Chr5:112174478 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6320G>T (p.Gly2107Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548837] Chr5:112841914 [GRCh38]
Chr5:112177611 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3445G>T (p.Glu1149Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772759] Chr5:112839039 [GRCh38]
Chr5:112174736 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5402C>G (p.Ala1801Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV001928879]|Familial adenomatous polyposis 1 [RCV003475174]|Hereditary cancer-predisposing syndrome [RCV002344053] Chr5:112840996 [GRCh38]
Chr5:112176693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112154653)_(112164679_?)del deletion Familial adenomatous polyposis 1 [RCV001949512] Chr5:112154653..112164679 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1495_1496insTA (p.Arg499fs) insertion Familial adenomatous polyposis 1 [RCV001949514] Chr5:112827194..112827195 [GRCh38]
Chr5:112162891..112162892 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4874_4876del (p.Gln1625del) deletion Familial adenomatous polyposis 1 [RCV002044630] Chr5:112840467..112840469 [GRCh38]
Chr5:112176164..112176166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707415C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534773] Chr5:112707415 [GRCh38]
Chr5:112043112 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707432T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653539] Chr5:112707432 [GRCh38]
Chr5:112043129 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5540C>A (p.Thr1847Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772514] Chr5:112841134 [GRCh38]
Chr5:112176831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.381_406del (p.Ser127fs) deletion Familial adenomatous polyposis 1 [RCV003745421] Chr5:112767345..112767370 [GRCh38]
Chr5:112103042..112103067 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112043009)_(112179829_?)del deletion Familial adenomatous polyposis 1 [RCV001949513] Chr5:112043009..112179829 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7028C>G (p.Ser2343Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548891] Chr5:112842622 [GRCh38]
Chr5:112178319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1492A>T (p.Arg498Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772932] Chr5:112827191 [GRCh38]
Chr5:112162888 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1887_1894del (p.Leu629fs) deletion Familial adenomatous polyposis 1 [RCV003745450] Chr5:112835094..112835101 [GRCh38]
Chr5:112170791..112170798 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6293A>C (p.Asn2098Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002556383] Chr5:112841887 [GRCh38]
Chr5:112177584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3991A>G (p.Arg1331Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773028] Chr5:112839585 [GRCh38]
Chr5:112175282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5980_5983dup (p.Ser1995Ter) duplication Familial adenomatous polyposis 1 [RCV003772954] Chr5:112841571..112841572 [GRCh38]
Chr5:112177268..112177269 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1455G>T (p.Met485Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571338] Chr5:112827154 [GRCh38]
Chr5:112162851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.605A>G (p.Glu202Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773369] Chr5:112780863 [GRCh38]
Chr5:112116560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707386G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773025] Chr5:112707386 [GRCh38]
Chr5:112043083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7112G>A (p.Arg2371Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772596] Chr5:112842706 [GRCh38]
Chr5:112178403 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3905del (p.Leu1302fs) deletion Familial adenomatous polyposis 1 [RCV001845059] Chr5:112839499 [GRCh38]
Chr5:112175196 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7132C>A (p.Leu2378Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773379] Chr5:112842726 [GRCh38]
Chr5:112178423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7845A>G (p.Ile2615Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772893] Chr5:112843439 [GRCh38]
Chr5:112179136 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1004T>A (p.Leu335Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773400]|Hereditary cancer-predisposing syndrome [RCV002398100] Chr5:112819036 [GRCh38]
Chr5:112154733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4081C>G (p.Pro1361Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548134]|Familial adenomatous polyposis 1 [RCV003653549]|Hereditary cancer-predisposing syndrome [RCV002324481] Chr5:112839675 [GRCh38]
Chr5:112175372 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6601G>A (p.Gly2201Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653543]|Hereditary cancer-predisposing syndrome [RCV002361291] Chr5:112842195 [GRCh38]
Chr5:112177892 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.55C>T (p.Pro19Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773384] Chr5:112707772 [GRCh38]
Chr5:112043469 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4529G>A (p.Ser1510Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745506] Chr5:112840123 [GRCh38]
Chr5:112175820 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q22.2(chr5:112112293-112251318)x3 copy number gain not provided [RCV001834464] Chr5:112112293..112251318 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.890C>T (p.Thr297Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772585]|Hereditary cancer-predisposing syndrome [RCV002370408] Chr5:112815550 [GRCh38]
Chr5:112151247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6597T>G (p.Ile2199Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745474] Chr5:112842191 [GRCh38]
Chr5:112177888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1337T>A (p.Ile446Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745409] Chr5:112821920 [GRCh38]
Chr5:112157617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2683T>G (p.Ser895Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773474] Chr5:112838277 [GRCh38]
Chr5:112173974 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3784del (p.Tyr1262fs) deletion Familial adenomatous polyposis 1 [RCV001843600] Chr5:112839377 [GRCh38]
Chr5:112175074 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7075T>C (p.Ser2359Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745423] Chr5:112842669 [GRCh38]
Chr5:112178366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4566A>T (p.Leu1522Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773253] Chr5:112840160 [GRCh38]
Chr5:112175857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4385A>T (p.Lys1462Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772736] Chr5:112839979 [GRCh38]
Chr5:112175676 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6579del (p.Val2194fs) deletion Familial adenomatous polyposis 1 [RCV001985474] Chr5:112842167 [GRCh38]
Chr5:112177864 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4534dup (p.Asp1512fs) duplication Familial adenomatous polyposis 1 [RCV003772805] Chr5:112840127..112840128 [GRCh38]
Chr5:112175824..112175825 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-93G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745526] Chr5:112707625 [GRCh38]
Chr5:112043322 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8510C>T (p.Ser2837Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548893] Chr5:112844104 [GRCh38]
Chr5:112179801 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5524T>C (p.Ser1842Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773312] Chr5:112841118 [GRCh38]
Chr5:112176815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4052C>G (p.Ala1351Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002044082]|Familial adenomatous polyposis 1 [RCV003475109]|Hereditary cancer-predisposing syndrome [RCV002324222] Chr5:112839646 [GRCh38]
Chr5:112175343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4501T>C (p.Ser1501Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773252] Chr5:112840095 [GRCh38]
Chr5:112175792 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707435G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745386] Chr5:112707435 [GRCh38]
Chr5:112043132 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4144C>G (p.Leu1382Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745433] Chr5:112839738 [GRCh38]
Chr5:112175435 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6509C>T (p.Pro2170Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773255]|Hereditary cancer-predisposing syndrome [RCV003585184] Chr5:112842103 [GRCh38]
Chr5:112177800 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3700A>C (p.Ser1234Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773445] Chr5:112839294 [GRCh38]
Chr5:112174991 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.196del (p.Ile66fs) deletion Familial adenomatous polyposis 1 [RCV003745449] Chr5:112766386 [GRCh38]
Chr5:112102083 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1959-2A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002571201] Chr5:112837551 [GRCh38]
Chr5:112173248 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2590C>T (p.His864Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745481] Chr5:112838184 [GRCh38]
Chr5:112173881 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7955del (p.Ser2652fs) deletion Familial adenomatous polyposis 1 [RCV003336453] Chr5:112843549 [GRCh38]
Chr5:112179246 [GRCh37]
Chr5:5q22.2		 pathogenic|uncertain significance
NM_000038.6(APC):c.7193C>G (p.Ser2398Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773318] Chr5:112842787 [GRCh38]
Chr5:112178484 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8272G>A (p.Glu2758Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745420] Chr5:112843866 [GRCh38]
Chr5:112179563 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5824G>A (p.Asp1942Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773164] Chr5:112841418 [GRCh38]
Chr5:112177115 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2054G>A (p.Trp685Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001823513]|Familial adenomatous polyposis 1 [RCV003745359] Chr5:112837648 [GRCh38]
Chr5:112173345 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3777A>G (p.Ile1259Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534758]|Hereditary cancer-predisposing syndrome [RCV002361134] Chr5:112839371 [GRCh38]
Chr5:112175068 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6965A>T (p.Gln2322Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773262] Chr5:112842559 [GRCh38]
Chr5:112178256 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.136A>G (p.Thr46Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002025495] Chr5:112707853 [GRCh38]
Chr5:112043550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5080G>T (p.Gly1694Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772694] Chr5:112840674 [GRCh38]
Chr5:112176371 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.806T>A (p.Ile269Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772964] Chr5:112801355 [GRCh38]
Chr5:112137052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2458A>T (p.Thr820Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745384] Chr5:112838052 [GRCh38]
Chr5:112173749 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7803T>G (p.Ser2601Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002406906]|not specified [RCV001844480] Chr5:112843397 [GRCh38]
Chr5:112179094 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835G>A (p.Gly279Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745394] Chr5:112815495 [GRCh38]
Chr5:112151192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-12T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV001965388] Chr5:112821884 [GRCh38]
Chr5:112157581 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.73T>G (p.Trp25Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548862] Chr5:112707790 [GRCh38]
Chr5:112043487 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707389A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002571347] Chr5:112707389 [GRCh38]
Chr5:112043086 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.369_422+44delinsG indel Familial adenomatous polyposis 1 [RCV003773082] Chr5:112767337..112767434 [GRCh38]
Chr5:112103034..112103131 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6155A>G (p.Lys2052Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745360]|Hereditary cancer-predisposing syndrome [RCV002255693] Chr5:112841749 [GRCh38]
Chr5:112177446 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8452T>G (p.Ser2818Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772413] Chr5:112844046 [GRCh38]
Chr5:112179743 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6875T>G (p.Ile2292Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548894]|not specified [RCV002222750] Chr5:112842469 [GRCh38]
Chr5:112178166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-9G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002548980] Chr5:112707709 [GRCh38]
Chr5:112043406 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3443_3444insG (p.Ser1148_Glu1149insTer) insertion Familial multiple polyposis syndrome [RCV001844479] Chr5:112839037..112839038 [GRCh38]
Chr5:112174734..112174735 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.9:g.(?_112072721)_(112116610_?)dup duplication Familial adenomatous polyposis 1 [RCV002042776] Chr5:112072721..112116610 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2726C>T (p.Thr909Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560607] Chr5:112838320 [GRCh38]
Chr5:112174017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4192_4193del (p.Arg1399fs) microsatellite Familial adenomatous polyposis 1 [RCV002564376]|Familial adenomatous polyposis 1 [RCV003534801] Chr5:112839783..112839784 [GRCh38]
Chr5:112175480..112175481 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.423G>A (p.Arg141=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745438] Chr5:112775629 [GRCh38]
Chr5:112111326 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8304C>G (p.Ser2768Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772597] Chr5:112843898 [GRCh38]
Chr5:112179595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2189T>C (p.Met730Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772598]|Hereditary cancer-predisposing syndrome [RCV002425148] Chr5:112837783 [GRCh38]
Chr5:112173480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4430A>G (p.Gln1477Arg) single nucleotide variant Desmoid disease, hereditary [RCV002482722]|Familial adenomatous polyposis 1 [RCV003653512]|Hereditary cancer-predisposing syndrome [RCV002331411] Chr5:112840024 [GRCh38]
Chr5:112175721 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6029A>T (p.Lys2010Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773091] Chr5:112841623 [GRCh38]
Chr5:112177320 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7145C>G (p.Thr2382Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745469] Chr5:112842739 [GRCh38]
Chr5:112178436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6100T>A (p.Ser2034Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773261] Chr5:112841694 [GRCh38]
Chr5:112177391 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6017G>T (p.Gly2006Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772628] Chr5:112841611 [GRCh38]
Chr5:112177308 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735) copy number loss not specified [RCV002053515] Chr5:100607918..125900735 [GRCh37]
Chr5:5q21.1-23.2		 pathogenic
NM_000038.6(APC):c.3627A>C (p.Glu1209Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772504] Chr5:112839221 [GRCh38]
Chr5:112174918 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8513A>G (p.Tyr2838Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653518] Chr5:112844107 [GRCh38]
Chr5:112179804 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5343A>C (p.Gln1781His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745515] Chr5:112840937 [GRCh38]
Chr5:112176634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6665C>A (p.Pro2222His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550350]|Hereditary cancer-predisposing syndrome [RCV002361124] Chr5:112842259 [GRCh38]
Chr5:112177956 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707430A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003772696] Chr5:112707430 [GRCh38]
Chr5:112043127 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.45T>C (p.Ala15=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745499] Chr5:112707762 [GRCh38]
Chr5:112043459 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5988G>T (p.Gln1996His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534790]|Hereditary cancer-predisposing syndrome [RCV003167131] Chr5:112841582 [GRCh38]
Chr5:112177279 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1667A>C (p.Asp556Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745497] Chr5:112828896 [GRCh38]
Chr5:112164593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1848G>A (p.Leu616=) single nucleotide variant Familial adenomatous polyposis 1 [RCV001872574] Chr5:112835055 [GRCh38]
Chr5:112170752 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.6383C>G (p.Ala2128Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772871]|Hereditary cancer-predisposing syndrome [RCV002352607] Chr5:112841977 [GRCh38]
Chr5:112177674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707352G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773473] Chr5:112707352 [GRCh38]
Chr5:112043049 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-9_1313-6del deletion Familial adenomatous polyposis 1 [RCV001911299] Chr5:112821884..112821887 [GRCh38]
Chr5:112157581..112157584 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_001127511.3(APC):c.-107G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773215] Chr5:112707611 [GRCh38]
Chr5:112043308 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-162G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773216] Chr5:112707556 [GRCh38]
Chr5:112043253 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.62C>G (p.Ser21Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745378] Chr5:112754952 [GRCh38]
Chr5:112090649 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1457A>T (p.Tyr486Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534771] Chr5:112827156 [GRCh38]
Chr5:112162853 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2134C>G (p.His712Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554117] Chr5:112837728 [GRCh38]
Chr5:112173425 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7729TCA[1] (p.Ser2578del) microsatellite Familial adenomatous polyposis 1 [RCV003653528] Chr5:112843323..112843325 [GRCh38]
Chr5:112179020..112179022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3343G>T (p.Val1115Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773364] Chr5:112838937 [GRCh38]
Chr5:112174634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1247A>T (p.Tyr416Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745473] Chr5:112819279 [GRCh38]
Chr5:112154976 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6248_6253del (p.Ile2083_Gln2084del) deletion Familial adenomatous polyposis 1 [RCV003772690] Chr5:112841841..112841846 [GRCh38]
Chr5:112177538..112177543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-61T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002545679] Chr5:112707657 [GRCh38]
Chr5:112043354 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5753T>A (p.Ile1918Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772486]|Hereditary cancer-predisposing syndrome [RCV002256851] Chr5:112841347 [GRCh38]
Chr5:112177044 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.116C>A (p.Thr39Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773391] Chr5:112755006 [GRCh38]
Chr5:112090703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4681A>G (p.Lys1561Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773382] Chr5:112840275 [GRCh38]
Chr5:112175972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5099C>G (p.Ala1700Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773416] Chr5:112840693 [GRCh38]
Chr5:112176390 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5851T>G (p.Leu1951Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773414] Chr5:112841445 [GRCh38]
Chr5:112177142 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.100G>T (p.Val34Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534812] Chr5:112707817 [GRCh38]
Chr5:112043514 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-136G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773337] Chr5:112707582 [GRCh38]
Chr5:112043279 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4747A>C (p.Met1583Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773089]|Hereditary cancer-predisposing syndrome [RCV002334999] Chr5:112840341 [GRCh38]
Chr5:112176038 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.440A>C (p.Asp147Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773023] Chr5:112775646 [GRCh38]
Chr5:112111343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4778A>G (p.Lys1593Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773226] Chr5:112840372 [GRCh38]
Chr5:112176069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7501G>T (p.Ala2501Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773417] Chr5:112843095 [GRCh38]
Chr5:112178792 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4322C>T (p.Pro1441Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773229] Chr5:112839916 [GRCh38]
Chr5:112175613 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6409T>C (p.Ser2137Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773185] Chr5:112842003 [GRCh38]
Chr5:112177700 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5470A>G (p.Asn1824Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745393] Chr5:112841064 [GRCh38]
Chr5:112176761 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5825A>G (p.Asp1942Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773069] Chr5:112841419 [GRCh38]
Chr5:112177116 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003772347]|Familial multiple polyposis syndrome [RCV001825044] Chr5:112821895 [GRCh38]
Chr5:112157592 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.2637G>C (p.Gln879His) single nucleotide variant Familial adenomatous polyposis 1 [RCV001888016]|Hereditary cancer-predisposing syndrome [RCV002425117] Chr5:112838231 [GRCh38]
Chr5:112173928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7052C>A (p.Pro2351His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772828] Chr5:112842646 [GRCh38]
Chr5:112178343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3954T>G (p.Asp1318Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772829] Chr5:112839548 [GRCh38]
Chr5:112175245 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112102013)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV002018025] Chr5:112102013..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.235A>C (p.Ser79Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772420]|Hereditary cancer-predisposing syndrome [RCV002449456] Chr5:112767203 [GRCh38]
Chr5:112102900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6626T>C (p.Ile2209Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772422] Chr5:112842220 [GRCh38]
Chr5:112177917 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6483T>G (p.Ser2161Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002545566]|Hereditary cancer-predisposing syndrome [RCV002256887] Chr5:112842077 [GRCh38]
Chr5:112177774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7282G>C (p.Glu2428Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745383] Chr5:112842876 [GRCh38]
Chr5:112178573 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1630A>G (p.Ile544Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745486] Chr5:112828859 [GRCh38]
Chr5:112164556 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707316A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002557634] Chr5:112707316 [GRCh38]
Chr5:112043013 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.212G>T (p.Arg71Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745493] Chr5:112766402 [GRCh38]
Chr5:112102099 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2894_2896dup (p.Asn965dup) duplication Familial adenomatous polyposis 1 [RCV003475136]|Familial adenomatous polyposis 1 [RCV003745379] Chr5:112838486..112838487 [GRCh38]
Chr5:112174183..112174184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8471A>G (p.Glu2824Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745380] Chr5:112844065 [GRCh38]
Chr5:112179762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4481A>G (p.Glu1494Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV001963716]|not specified [RCV003493899] Chr5:112840075 [GRCh38]
Chr5:112175772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5969C>G (p.Thr1990Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534809]|Hereditary cancer-predisposing syndrome [RCV002352670] Chr5:112841563 [GRCh38]
Chr5:112177260 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1191_1192dup (p.Lys398fs) duplication Familial adenomatous polyposis 1 [RCV002568517]|Familial adenomatous polyposis 1 [RCV003745451] Chr5:112819221..112819222 [GRCh38]
Chr5:112154918..112154919 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2958T>G (p.Tyr986Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653546] Chr5:112838552 [GRCh38]
Chr5:112174249 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707366T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003773274] Chr5:112707366 [GRCh38]
Chr5:112043063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.148_149del (p.Gln50fs) deletion Familial adenomatous polyposis 1 [RCV002562185]|Familial adenomatous polyposis 1 [RCV003336467] Chr5:112766337..112766338 [GRCh38]
Chr5:112102034..112102035 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2534G>T (p.Arg845Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745472] Chr5:112838128 [GRCh38]
Chr5:112173825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5047G>A (p.Glu1683Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772677]|Hereditary cancer-predisposing syndrome [RCV002334814] Chr5:112840641 [GRCh38]
Chr5:112176338 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4243A>G (p.Ser1415Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745487] Chr5:112839837 [GRCh38]
Chr5:112175534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707467G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745463] Chr5:112707467 [GRCh38]
Chr5:112043164 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-132_-114dup duplication Familial adenomatous polyposis 1 [RCV002563456] Chr5:112707581..112707582 [GRCh38]
Chr5:112043278..112043279 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4583T>G (p.Val1528Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549013] Chr5:112840177 [GRCh38]
Chr5:112175874 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.662T>G (p.Ile221Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773176]|Hereditary cancer-predisposing syndrome [RCV002361346] Chr5:112792462 [GRCh38]
Chr5:112128159 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2853T>G (p.Tyr951Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534799] Chr5:112838447 [GRCh38]
Chr5:112174144 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4011G>A (p.Leu1337=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563638] Chr5:112839605 [GRCh38]
Chr5:112175302 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6282del (p.Asp2095fs) deletion Familial adenomatous polyposis 1 [RCV001941861]|Familial adenomatous polyposis 1 [RCV003772943] Chr5:112841876 [GRCh38]
Chr5:112177573 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7466C>G (p.Pro2489Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772575]|Hereditary cancer-predisposing syndrome [RCV002388729] Chr5:112843060 [GRCh38]
Chr5:112178757 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5704T>A (p.Ser1902Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745370]|Hereditary cancer-predisposing syndrome [RCV002343946] Chr5:112841298 [GRCh38]
Chr5:112176995 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4555G>T (p.Asp1519Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745532]|Hereditary cancer-predisposing syndrome [RCV003585192] Chr5:112840149 [GRCh38]
Chr5:112175846 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8041C>T (p.Pro2681Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745533]|Hereditary cancer-predisposing syndrome [RCV002407321] Chr5:112843635 [GRCh38]
Chr5:112179332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7434G>T (p.Gln2478His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745462] Chr5:112843028 [GRCh38]
Chr5:112178725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6500T>C (p.Ile2167Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772557] Chr5:112842094 [GRCh38]
Chr5:112177791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7385T>C (p.Phe2462Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002543451] Chr5:112842979 [GRCh38]
Chr5:112178676 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3206G>T (p.Arg1069Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773198] Chr5:112838800 [GRCh38]
Chr5:112174497 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5705C>G (p.Ser1902Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745464] Chr5:112841299 [GRCh38]
Chr5:112176996 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5144A>G (p.Asp1715Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745374] Chr5:112840738 [GRCh38]
Chr5:112176435 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6584A>T (p.Tyr2195Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772991] Chr5:112842178 [GRCh38]
Chr5:112177875 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707419GC[1] microsatellite Familial adenomatous polyposis 1 [RCV003773487] Chr5:112707419..112707420 [GRCh38]
Chr5:112043116..112043117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.719C>T (p.Thr240Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745535]|not provided [RCV003318713] Chr5:112792519 [GRCh38]
Chr5:112128216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707428C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534779] Chr5:112707428 [GRCh38]
Chr5:112043125 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4906del (p.Asp1636fs) deletion Familial adenomatous polyposis 1 [RCV002564372]|Familial adenomatous polyposis 1 [RCV003534798] Chr5:112840496 [GRCh38]
Chr5:112176193 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7438C>G (p.Gln2480Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745447]|Hereditary cancer-predisposing syndrome [RCV003170135] Chr5:112843032 [GRCh38]
Chr5:112178729 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6944_6945del (p.Gln2315fs) deletion Familial adenomatous polyposis 1 [RCV003337379] Chr5:112842538..112842539 [GRCh38]
Chr5:112178235..112178236 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707330_112707332del deletion Familial adenomatous polyposis 1 [RCV002543446] Chr5:112707328..112707330 [GRCh38]
Chr5:112043025..112043027 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1762_1763insGGGCG (p.Val588fs) insertion Familial adenomatous polyposis 1 [RCV003772936] Chr5:112834966..112834967 [GRCh38]
Chr5:112170663..112170664 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4849C>T (p.Leu1617Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773201]|Hereditary cancer-predisposing syndrome [RCV002331573] Chr5:112840443 [GRCh38]
Chr5:112176140 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707391A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002569233] Chr5:112707391 [GRCh38]
Chr5:112043088 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112111314)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV002038955] Chr5:112111314..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4162A>G (p.Thr1388Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653532]|not specified [RCV002246604] Chr5:112839756 [GRCh38]
Chr5:112175453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1571_1574dup (p.Cys525fs) duplication Familial adenomatous polyposis 1 [RCV001876603]|Familial adenomatous polyposis 1 [RCV003772472] Chr5:112827949..112827950 [GRCh38]
Chr5:112163646..112163647 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5369G>T (p.Arg1790Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745470] Chr5:112840963 [GRCh38]
Chr5:112176660 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.500A>G (p.Lys167Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560678] Chr5:112775706 [GRCh38]
Chr5:112111403 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.514C>A (p.Leu172Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773130] Chr5:112775720 [GRCh38]
Chr5:112111417 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3620A>T (p.Lys1207Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV001922733] Chr5:112839214 [GRCh38]
Chr5:112174911 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2885A>T (p.Asp962Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745467] Chr5:112838479 [GRCh38]
Chr5:112174176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1823C>T (p.Ala608Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773290] Chr5:112835030 [GRCh38]
Chr5:112170727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1406T>A (p.Leu469Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772914] Chr5:112821989 [GRCh38]
Chr5:112157686 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.356C>T (p.Pro119Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772999] Chr5:112767324 [GRCh38]
Chr5:112103021 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.698A>C (p.Gln233Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002020104]|Hereditary cancer-predisposing syndrome [RCV002361381] Chr5:112792498 [GRCh38]
Chr5:112128195 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1066C>G (p.Leu356Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773335] Chr5:112819098 [GRCh38]
Chr5:112154795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7309T>G (p.Leu2437Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772448] Chr5:112842903 [GRCh38]
Chr5:112178600 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2666_2667del (p.Lys889fs) deletion Familial adenomatous polyposis 1 [RCV003336456] Chr5:112838259..112838260 [GRCh38]
Chr5:112173956..112173957 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.527A>G (p.Glu176Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV001915741] Chr5:112775733 [GRCh38]
Chr5:112111430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5810C>G (p.Ser1937Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772895] Chr5:112841404 [GRCh38]
Chr5:112177101 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3950A>C (p.Glu1317Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773116] Chr5:112839544 [GRCh38]
Chr5:112175241 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7879_7881del (p.Ser2627del) deletion Familial adenomatous polyposis 1 [RCV003773222] Chr5:112843471..112843473 [GRCh38]
Chr5:112179168..112179170 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3975del (p.Val1326fs) deletion Familial adenomatous polyposis 1 [RCV003772944] Chr5:112839569 [GRCh38]
Chr5:112175266 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1529_1530insGAGATGTTGGCTT (p.Phe510fs) insertion Familial adenomatous polyposis 1 [RCV001963070] Chr5:112827226..112827227 [GRCh38]
Chr5:112162923..112162924 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7541C>A (p.Thr2514Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745494] Chr5:112843135 [GRCh38]
Chr5:112178832 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2544A>T (p.Lys848Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571187]|not provided [RCV002479604] Chr5:112838138 [GRCh38]
Chr5:112173835 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+3T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653548]|Hereditary cancer-predisposing syndrome [RCV002386877] Chr5:112792532 [GRCh38]
Chr5:112128229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2224A>G (p.Ile742Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV001915830]|Hereditary cancer-predisposing syndrome [RCV003167106] Chr5:112837818 [GRCh38]
Chr5:112173515 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1489C>G (p.Leu497Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773389]|Hereditary cancer-predisposing syndrome [RCV002389026] Chr5:112827188 [GRCh38]
Chr5:112162885 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3835T>C (p.Ser1279Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745509] Chr5:112839429 [GRCh38]
Chr5:112175126 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1250G>A (p.Cys417Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002543454] Chr5:112819282 [GRCh38]
Chr5:112154979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7526C>T (p.Pro2509Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772723] Chr5:112843120 [GRCh38]
Chr5:112178817 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2801C>G (p.Thr934Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773321] Chr5:112838395 [GRCh38]
Chr5:112174092 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2192C>G (p.Ala731Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653540]|Hereditary cancer-predisposing syndrome [RCV002423114] Chr5:112837786 [GRCh38]
Chr5:112173483 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2177T>G (p.Leu726Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001960670] Chr5:112837771 [GRCh38]
Chr5:112173468 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1907G>A (p.Gly636Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV001917285] Chr5:112835114 [GRCh38]
Chr5:112170811 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2972A>T (p.Glu991Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772523] Chr5:112838566 [GRCh38]
Chr5:112174263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.137_139del (p.Glu46del) deletion Familial adenomatous polyposis 1 [RCV003534777] Chr5:112766326..112766328 [GRCh38]
Chr5:112102023..112102025 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7295del (p.Arg2431_Ser2432insTer) deletion Familial adenomatous polyposis 1 [RCV003772650] Chr5:112842889 [GRCh38]
Chr5:112178586 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4348C>G (p.Arg1450Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745520] Chr5:112839942 [GRCh38]
Chr5:112175639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6437C>T (p.Ser2146Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002569262] Chr5:112842031 [GRCh38]
Chr5:112177728 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1725_1726del (p.Ala576fs) microsatellite Familial adenomatous polyposis 1 [RCV003772938] Chr5:112828952..112828953 [GRCh38]
Chr5:112164649..112164650 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2354A>T (p.His785Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562075] Chr5:112837948 [GRCh38]
Chr5:112173645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4383_4387del (p.Lys1462fs) deletion Familial adenomatous polyposis 1 [RCV002564377]|Familial adenomatous polyposis 1 [RCV003534802] Chr5:112839975..112839979 [GRCh38]
Chr5:112175672..112175676 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3223del (p.Tyr1075fs) deletion Familial adenomatous polyposis 1 [RCV003772950] Chr5:112838816 [GRCh38]
Chr5:112174513 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1312+13T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534814] Chr5:112819357 [GRCh38]
Chr5:112155054 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2144A>G (p.His715Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745495] Chr5:112837738 [GRCh38]
Chr5:112173435 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.272T>C (p.Met91Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745376] Chr5:112767240 [GRCh38]
Chr5:112102937 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2885A>G (p.Asp962Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745377] Chr5:112838479 [GRCh38]
Chr5:112174176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8192C>T (p.Pro2731Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653522] Chr5:112843786 [GRCh38]
Chr5:112179483 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3471G>C (p.Glu1157Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745521] Chr5:112839065 [GRCh38]
Chr5:112174762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3893C>A (p.Ser1298Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002561549] Chr5:112839487 [GRCh38]
Chr5:112175184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4892G>C (p.Ser1631Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773105] Chr5:112840486 [GRCh38]
Chr5:112176183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5164G>C (p.Asp1722His) single nucleotide variant Familial adenomatous polyposis 1 [RCV001936278] Chr5:112840758 [GRCh38]
Chr5:112176455 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3257A>G (p.His1086Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653521]|not provided [RCV002463071] Chr5:112838851 [GRCh38]
Chr5:112174548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3096del (p.Asp1033fs) deletion Familial adenomatous polyposis 1 [RCV003745436] Chr5:112838690 [GRCh38]
Chr5:112174387 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.364G>A (p.Gly122Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002554244]|Familial adenomatous polyposis 1 [RCV003653514]|Hereditary cancer-predisposing syndrome [RCV003289191] Chr5:112767332 [GRCh38]
Chr5:112103029 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+6T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003772728] Chr5:112819350 [GRCh38]
Chr5:112155047 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7715C>A (p.Ser2572Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002557789] Chr5:112843309 [GRCh38]
Chr5:112179006 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3641G>T (p.Ser1214Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471284]|Familial adenomatous polyposis 1 [RCV003745534] Chr5:112839235 [GRCh38]
Chr5:112174932 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1158_1159dup (p.Leu387fs) duplication Familial adenomatous polyposis 1 [RCV003337385] Chr5:112819188..112819189 [GRCh38]
Chr5:112154885..112154886 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4390G>C (p.Glu1464Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772457]|Hereditary cancer-predisposing syndrome [RCV003299042] Chr5:112839984 [GRCh38]
Chr5:112175681 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707436C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003772826] Chr5:112707436 [GRCh38]
Chr5:112043133 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707390G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653500] Chr5:112707390 [GRCh38]
Chr5:112043087 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8408C>A (p.Ser2803Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772883] Chr5:112844002 [GRCh38]
Chr5:112179699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707468T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002552905] Chr5:112707468 [GRCh38]
Chr5:112043165 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2107G>A (p.Ala703Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772546] Chr5:112837701 [GRCh38]
Chr5:112173398 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4453G>C (p.Ala1485Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV001993629]|Hereditary cancer-predisposing syndrome [RCV002331547] Chr5:112840047 [GRCh38]
Chr5:112175744 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1345G>A (p.Ala449Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772499]|Hereditary cancer-predisposing syndrome [RCV002386612] Chr5:112821928 [GRCh38]
Chr5:112157625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.42C>G (p.Pro14=) single nucleotide variant Familial adenomatous polyposis 1 [RCV001894914] Chr5:112707759 [GRCh38]
Chr5:112043456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2954C>T (p.Ser985Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571359] Chr5:112838548 [GRCh38]
Chr5:112174245 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1337T>C (p.Ile446Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773269] Chr5:112821920 [GRCh38]
Chr5:112157617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4185_4189del (p.Ser1395fs) deletion Familial adenomatous polyposis 1 [RCV003772854] Chr5:112839778..112839782 [GRCh38]
Chr5:112175475..112175479 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.988A>G (p.Met330Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550485] Chr5:112819020 [GRCh38]
Chr5:112154717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8147T>A (p.Val2716Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653516]|not specified [RCV003320260] Chr5:112843741 [GRCh38]
Chr5:112179438 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4559T>A (p.Val1520Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002545838] Chr5:112840153 [GRCh38]
Chr5:112175850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.104G>T (p.Arg35Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772763] Chr5:112707821 [GRCh38]
Chr5:112043518 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3338A>G (p.Asn1113Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773437] Chr5:112838932 [GRCh38]
Chr5:112174629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5527C>G (p.Pro1843Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772610] Chr5:112841121 [GRCh38]
Chr5:112176818 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6983C>T (p.Ser2328Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773031]|Hereditary cancer-predisposing syndrome [RCV002361321] Chr5:112842577 [GRCh38]
Chr5:112178274 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2118G>T (p.Met706Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773298] Chr5:112837712 [GRCh38]
Chr5:112173409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4726del (p.Glu1576fs) deletion Familial adenomatous polyposis 1 [RCV002560465] Chr5:112840320 [GRCh38]
Chr5:112176017 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5878C>T (p.Pro1960Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743786] Chr5:112841472 [GRCh38]
Chr5:112177169 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4559T>G (p.Val1520Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745411] Chr5:112840153 [GRCh38]
Chr5:112175850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.387A>C (p.Glu129Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534788]|Hereditary cancer-predisposing syndrome [RCV002359403] Chr5:112767355 [GRCh38]
Chr5:112103052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.370G>C (p.Val124Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002641992] Chr5:112767338 [GRCh38]
Chr5:112103035 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8268_8270del (p.Ile2756_Val2757delinsMet) deletion Familial adenomatous polyposis 1 [RCV003773410]|Hereditary cancer-predisposing syndrome [RCV002425414] Chr5:112843861..112843863 [GRCh38]
Chr5:112179558..112179560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2662G>C (p.Ala888Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772497] Chr5:112838256 [GRCh38]
Chr5:112173953 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.106C>T (p.Gln36Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552337]|Familial adenomatous polyposis 1 [RCV003534765] Chr5:112707823 [GRCh38]
Chr5:112043520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7347C>G (p.Ser2449Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772477] Chr5:112842941 [GRCh38]
Chr5:112178638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2872A>G (p.Arg958Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772612] Chr5:112838466 [GRCh38]
Chr5:112174163 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-147G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003772767] Chr5:112707571 [GRCh38]
Chr5:112043268 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3670A>G (p.Asn1224Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002550486] Chr5:112839264 [GRCh38]
Chr5:112174961 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3785A>G (p.Tyr1262Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772440] Chr5:112839379 [GRCh38]
Chr5:112175076 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112102013)_(112103097_?)del deletion Familial adenomatous polyposis 1 [RCV001903135] Chr5:112102013..112103097 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.200A>C (p.Asp67Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745412]|Hereditary cancer-predisposing syndrome [RCV002422985] Chr5:112766390 [GRCh38]
Chr5:112102087 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.67G>C (p.Gly23Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772618] Chr5:112707784 [GRCh38]
Chr5:112043481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2285C>T (p.Ala762Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745530] Chr5:112837879 [GRCh38]
Chr5:112173576 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.340C>T (p.Pro114Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534794]|Hereditary cancer-predisposing syndrome [RCV002331457] Chr5:112767308 [GRCh38]
Chr5:112103005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.716C>T (p.Ala239Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745366] Chr5:112792516 [GRCh38]
Chr5:112128213 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8278A>G (p.Thr2760Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773305] Chr5:112843872 [GRCh38]
Chr5:112179569 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.74G>C (p.Trp25Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773254] Chr5:112707791 [GRCh38]
Chr5:112043488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2308del (p.Ser770fs) deletion Familial adenomatous polyposis 1 [RCV003534803] Chr5:112837902 [GRCh38]
Chr5:112173599 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1190A>G (p.Asp397Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534761] Chr5:112819222 [GRCh38]
Chr5:112154919 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV001993961]|Familial adenomatous polyposis 1 [RCV003773147] Chr5:112828007 [GRCh38]
Chr5:112163704 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.9:g.(?_112173731)_(112343239_?)del deletion Familial adenomatous polyposis 1 [RCV001937647] Chr5:112173731..112343239 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1121G>C (p.Arg374Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562919] Chr5:112819153 [GRCh38]
Chr5:112154850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4678G>T (p.Glu1560Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772606] Chr5:112840272 [GRCh38]
Chr5:112175969 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3434A>G (p.Glu1145Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772921] Chr5:112839028 [GRCh38]
Chr5:112174725 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.468C>A (p.Asp156Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745511] Chr5:112775674 [GRCh38]
Chr5:112111371 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3643A>C (p.Ser1215Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772589] Chr5:112839237 [GRCh38]
Chr5:112174934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8387A>T (p.Asp2796Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548868] Chr5:112843981 [GRCh38]
Chr5:112179678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2252del (p.Ser751fs) deletion Familial adenomatous polyposis 1 [RCV003772838] Chr5:112837846 [GRCh38]
Chr5:112173543 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4341A>T (p.Gln1447His) single nucleotide variant Familial adenomatous polyposis 1 [RCV001954738] Chr5:112839935 [GRCh38]
Chr5:112175632 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707364C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534810] Chr5:112707364 [GRCh38]
Chr5:112043061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-101T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003772502] Chr5:112707617 [GRCh38]
Chr5:112043314 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2827T>A (p.Ser943Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653523]|Hereditary cancer-predisposing syndrome [RCV002441044] Chr5:112838421 [GRCh38]
Chr5:112174118 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6319G>C (p.Gly2107Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772481] Chr5:112841913 [GRCh38]
Chr5:112177610 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.23G>A (p.Gly8Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773271] Chr5:112707740 [GRCh38]
Chr5:112043437 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707346G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002545289] Chr5:112707346 [GRCh38]
Chr5:112043043 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8501A>G (p.His2834Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772406] Chr5:112844095 [GRCh38]
Chr5:112179792 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2275G>T (p.Ala759Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773165] Chr5:112837869 [GRCh38]
Chr5:112173566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6173G>T (p.Gly2058Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772706]|Hereditary cancer-predisposing syndrome [RCV002359369] Chr5:112841767 [GRCh38]
Chr5:112177464 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7183G>A (p.Glu2395Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772707] Chr5:112842777 [GRCh38]
Chr5:112178474 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3740C>G (p.Ala1247Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772407] Chr5:112839334 [GRCh38]
Chr5:112175031 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3898A>C (p.Asn1300His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773052] Chr5:112839492 [GRCh38]
Chr5:112175189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.176C>G (p.Ala59Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV002548873]|Hereditary cancer-predisposing syndrome [RCV003161263] Chr5:112766366 [GRCh38]
Chr5:112102063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.250G>C (p.Gly84Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV001974318] Chr5:112767218 [GRCh38]
Chr5:112102915 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1094_1095insC (p.Lys365fs) insertion Familial adenomatous polyposis 1 [RCV001954548] Chr5:112819126..112819127 [GRCh38]
Chr5:112154823..112154824 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3077A>G (p.Asn1026Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553643]|Familial adenomatous polyposis 1 [RCV003534774]|Hereditary cancer-predisposing syndrome [RCV003166991] Chr5:112838671 [GRCh38]
Chr5:112174368 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1132G>A (p.Glu378Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745516] Chr5:112819164 [GRCh38]
Chr5:112154861 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.160T>C (p.Trp54Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772534] Chr5:112707877 [GRCh38]
Chr5:112043574 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7886C>G (p.Thr2629Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772506] Chr5:112843480 [GRCh38]
Chr5:112179177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2131A>T (p.Ile711Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745517] Chr5:112837725 [GRCh38]
Chr5:112173422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+17T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534769] Chr5:112828989 [GRCh38]
Chr5:112164686 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4831C>G (p.Gln1611Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560618]|Hereditary cancer-predisposing syndrome [RCV003167316]|not specified [RCV002246602] Chr5:112840425 [GRCh38]
Chr5:112176122 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2660T>C (p.Ile887Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772760]|Hereditary cancer-predisposing syndrome [RCV002425211] Chr5:112838254 [GRCh38]
Chr5:112173951 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1999C>A (p.Gln667Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773056] Chr5:112837593 [GRCh38]
Chr5:112173290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8088T>A (p.Asp2696Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773430] Chr5:112843682 [GRCh38]
Chr5:112179379 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5903C>G (p.Ser1968Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653506]|Hereditary cancer-predisposing syndrome [RCV003584998] Chr5:112841497 [GRCh38]
Chr5:112177194 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1366C>A (p.Leu456Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534776] Chr5:112821949 [GRCh38]
Chr5:112157646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8186A>G (p.Asp2729Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745369] Chr5:112843780 [GRCh38]
Chr5:112179477 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1633G>A (p.Ala545Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745465] Chr5:112828862 [GRCh38]
Chr5:112164559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.47C>A (p.Ser16Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773027] Chr5:112707764 [GRCh38]
Chr5:112043461 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7441A>C (p.Thr2481Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773245] Chr5:112843035 [GRCh38]
Chr5:112178732 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7124A>C (p.Gln2375Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772508] Chr5:112842718 [GRCh38]
Chr5:112178415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3523dup (p.Gln1175fs) duplication Familial adenomatous polyposis 1 [RCV003772676] Chr5:112839116..112839117 [GRCh38]
Chr5:112174813..112174814 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.490A>G (p.Asn164Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772753] Chr5:112775696 [GRCh38]
Chr5:112111393 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+20T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653533] Chr5:112707902 [GRCh38]
Chr5:112043599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3025_3026del (p.Ile1008_His1009insTer) deletion Familial adenomatous polyposis 1 [RCV003745391] Chr5:112838618..112838619 [GRCh38]
Chr5:112174315..112174316 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1043G>T (p.Arg348Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745405] Chr5:112819075 [GRCh38]
Chr5:112154772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5202A>G (p.Lys1734=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773275] Chr5:112840796 [GRCh38]
Chr5:112176493 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2511A>C (p.Ser837=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745513]|Hereditary cancer-predisposing syndrome [RCV002425395] Chr5:112838105 [GRCh38]
Chr5:112173802 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5809T>A (p.Ser1937Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773220] Chr5:112841403 [GRCh38]
Chr5:112177100 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4096G>A (p.Ala1366Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002033068] Chr5:112839690 [GRCh38]
Chr5:112175387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6485_6489del (p.Asn2162fs) deletion Familial adenomatous polyposis 1 [RCV003337386] Chr5:112842078..112842082 [GRCh38]
Chr5:112177775..112177779 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5922C>G (p.Asp1974Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551659] Chr5:112841516 [GRCh38]
Chr5:112177213 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4637A>C (p.Asn1546Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773387] Chr5:112840231 [GRCh38]
Chr5:112175928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8095G>C (p.Asp2699His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745529]|Hereditary cancer-predisposing syndrome [RCV002423271] Chr5:112843689 [GRCh38]
Chr5:112179386 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6958C>G (p.Pro2320Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772397]|Hereditary cancer-predisposing syndrome [RCV002370351] Chr5:112842552 [GRCh38]
Chr5:112178249 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.93G>T (p.Arg31Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773042] Chr5:112707810 [GRCh38]
Chr5:112043507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6970C>T (p.Pro2324Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV001936032]|Inborn genetic diseases [RCV003167195] Chr5:112842564 [GRCh38]
Chr5:112178261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+2T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003336493]|Familial adenomatous polyposis 1 [RCV003745491] Chr5:112815595 [GRCh38]
Chr5:112151292 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3762_3855del (p.Ile1254fs) deletion Familial adenomatous polyposis 1 [RCV003745431] Chr5:112839354..112839447 [GRCh38]
Chr5:112175051..112175144 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4572A>G (p.Ile1524Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772633] Chr5:112840166 [GRCh38]
Chr5:112175863 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3578A>C (p.Gln1193Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653550] Chr5:112839172 [GRCh38]
Chr5:112174869 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs) microsatellite Familial adenomatous polyposis 1 [RCV001899936]|Familial adenomatous polyposis 1 [RCV003772525]|Hereditary cancer-predisposing syndrome [RCV002422914] Chr5:112843556..112843557 [GRCh38]
Chr5:112179253..112179254 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.6176A>G (p.Asp2059Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772988]|Hereditary cancer-predisposing syndrome [RCV003339857] Chr5:112841770 [GRCh38]
Chr5:112177467 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5953_5960del (p.Glu1985fs) deletion Familial adenomatous polyposis 1 [RCV003772937] Chr5:112841545..112841552 [GRCh38]
Chr5:112177242..112177249 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707493C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002553490] Chr5:112707493 [GRCh38]
Chr5:112043190 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.611T>G (p.Leu204Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745424] Chr5:112780869 [GRCh38]
Chr5:112116566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7991G>A (p.Cys2664Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773284] Chr5:112843585 [GRCh38]
Chr5:112179282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+6A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003772894]|not provided [RCV003328688] Chr5:112821997 [GRCh38]
Chr5:112157694 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6410C>A (p.Ser2137Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002545723] Chr5:112842004 [GRCh38]
Chr5:112177701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.248C>G (p.Pro83Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773267] Chr5:112767216 [GRCh38]
Chr5:112102913 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4438C>T (p.Gln1480Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336479] Chr5:112840032 [GRCh38]
Chr5:112175729 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5963_5964del (p.Lys1988fs) deletion Familial adenomatous polyposis 1 [RCV003772953] Chr5:112841556..112841557 [GRCh38]
Chr5:112177253..112177254 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3935G>T (p.Gly1312Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002555345] Chr5:112839529 [GRCh38]
Chr5:112175226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7898G>T (p.Gly2633Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772416]|Hereditary cancer-predisposing syndrome [RCV002422888]|not specified [RCV002465907] Chr5:112843492 [GRCh38]
Chr5:112179189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5572C>G (p.Arg1858Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745508]|not provided [RCV003478920] Chr5:112841166 [GRCh38]
Chr5:112176863 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1288G>T (p.Gly430Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002551196] Chr5:112819320 [GRCh38]
Chr5:112155017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2008A>C (p.Lys670Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV002556414] Chr5:112837602 [GRCh38]
Chr5:112173299 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.119A>G (p.Glu40Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772524] Chr5:112755009 [GRCh38]
Chr5:112090706 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-36dup duplication Familial adenomatous polyposis 1 [RCV003745422] Chr5:112707680..112707681 [GRCh38]
Chr5:112043377..112043378 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2949T>G (p.Ile983Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745400]|Hereditary cancer-predisposing syndrome [RCV002440972] Chr5:112838543 [GRCh38]
Chr5:112174240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs) microsatellite APC-related condition [RCV003418249]|Familial adenomatous polyposis 1 [RCV001994788]|Familial adenomatous polyposis 1 [RCV003772939]|Hereditary cancer-predisposing syndrome [RCV002423134] Chr5:112843519..112843520 [GRCh38]
Chr5:112179216..112179217 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6938C>T (p.Ala2313Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772494] Chr5:112842532 [GRCh38]
Chr5:112178229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5816A>G (p.Asp1939Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773351]|Hereditary cancer-predisposing syndrome [RCV002352736] Chr5:112841410 [GRCh38]
Chr5:112177107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3859A>G (p.Ile1287Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772529]|Hereditary cancer-predisposing syndrome [RCV002359303] Chr5:112839453 [GRCh38]
Chr5:112175150 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112043009)_(112073585_?)del deletion Familial adenomatous polyposis 1 [RCV001953897] Chr5:112043009..112073585 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-134_-133insGC insertion Familial adenomatous polyposis 1 [RCV003773044] Chr5:112707584..112707585 [GRCh38]
Chr5:112043281..112043282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5986C>G (p.Gln1996Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745403]|Hereditary cancer-predisposing syndrome [RCV002359357] Chr5:112841580 [GRCh38]
Chr5:112177277 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.917G>T (p.Ser306Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745437] Chr5:112815577 [GRCh38]
Chr5:112151274 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+9G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745504] Chr5:112707891 [GRCh38]
Chr5:112043588 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2234C>G (p.Pro745Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745477] Chr5:112837828 [GRCh38]
Chr5:112173525 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2493dup (p.Pro832fs) duplication Familial adenomatous polyposis 1 [RCV002564393]|Familial adenomatous polyposis 1 [RCV003534804] Chr5:112838086..112838087 [GRCh38]
Chr5:112173783..112173784 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6884C>T (p.Ser2295Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002573550]|Hereditary cancer-predisposing syndrome [RCV002361342] Chr5:112842478 [GRCh38]
Chr5:112178175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7892C>A (p.Ser2631Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549067] Chr5:112843486 [GRCh38]
Chr5:112179183 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.64C>G (p.Leu22Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745406] Chr5:112707781 [GRCh38]
Chr5:112043478 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5168T>C (p.Ile1723Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772480] Chr5:112840762 [GRCh38]
Chr5:112176459 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-25G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745419] Chr5:112707693 [GRCh38]
Chr5:112043390 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7868C>A (p.Thr2623Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773357] Chr5:112843462 [GRCh38]
Chr5:112179159 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4230C>G (p.Cys1410Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772539]|Hereditary cancer-predisposing syndrome [RCV002331370] Chr5:112839824 [GRCh38]
Chr5:112175521 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112111314)_(112137090_?)del deletion Familial adenomatous polyposis 1 [RCV001972495] Chr5:112111314..112137090 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4009C>G (p.Leu1337Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772482]|Hereditary cancer-predisposing syndrome [RCV002370375] Chr5:112839603 [GRCh38]
Chr5:112175300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5152G>T (p.Ala1718Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773518] Chr5:112840746 [GRCh38]
Chr5:112176443 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6778A>G (p.Ser2260Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773108] Chr5:112842372 [GRCh38]
Chr5:112178069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-137T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003772719] Chr5:112707581 [GRCh38]
Chr5:112043278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.474T>A (p.Tyr158Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002563620] Chr5:112775680 [GRCh38]
Chr5:112111377 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8432A>G (p.Asn2811Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773242]|Hereditary cancer-predisposing syndrome [RCV003348728] Chr5:112844026 [GRCh38]
Chr5:112179723 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5029G>T (p.Gly1677Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337373] Chr5:112840623 [GRCh38]
Chr5:112176320 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8472A>T (p.Glu2824Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534792]|Hereditary cancer-predisposing syndrome [RCV002449577]|not provided [RCV002466712] Chr5:112844066 [GRCh38]
Chr5:112179763 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5803dup (p.Gln1935fs) duplication Familial adenomatous polyposis 1 [RCV003772955] Chr5:112841393..112841394 [GRCh38]
Chr5:112177090..112177091 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7345A>G (p.Ser2449Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772445]|Hereditary cancer-predisposing syndrome [RCV002386597] Chr5:112842939 [GRCh38]
Chr5:112178636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-19T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003772698] Chr5:112827910 [GRCh38]
Chr5:112163607 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.4463T>G (p.Leu1488Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553451]|Familial adenomatous polyposis 1 [RCV003534766] Chr5:112840057 [GRCh38]
Chr5:112175754 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707488T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002545576] Chr5:112707488 [GRCh38]
Chr5:112043185 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5084G>C (p.Arg1695Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002558421] Chr5:112840678 [GRCh38]
Chr5:112176375 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.440dup (p.Asp147fs) duplication Familial adenomatous polyposis 1 [RCV001996956]|Familial adenomatous polyposis 1 [RCV003745446] Chr5:112775645..112775646 [GRCh38]
Chr5:112111342..112111343 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1469_1470dup (p.Asp491fs) duplication Familial adenomatous polyposis 1 [RCV003337384]|Hereditary cancer-predisposing syndrome [RCV002388930] Chr5:112827167..112827168 [GRCh38]
Chr5:112162864..112162865 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5806T>G (p.Ser1936Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002625405] Chr5:112841400 [GRCh38]
Chr5:112177097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4816del (p.Ala1606fs) deletion Familial adenomatous polyposis 1 [RCV003745458] Chr5:112840409 [GRCh38]
Chr5:112176106 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6815G>C (p.Arg2272Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772731] Chr5:112842409 [GRCh38]
Chr5:112178106 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5579A>T (p.Asp1860Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773503] Chr5:112841173 [GRCh38]
Chr5:112176870 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1924G>A (p.Val642Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV001925034] Chr5:112835131 [GRCh38]
Chr5:112170828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.691A>G (p.Ile231Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773330] Chr5:112792491 [GRCh38]
Chr5:112128188 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2339G>C (p.Ser780Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773306]|Hereditary cancer-predisposing syndrome [RCV002458965] Chr5:112837933 [GRCh38]
Chr5:112173630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4353A>C (p.Glu1451Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772484] Chr5:112839947 [GRCh38]
Chr5:112175644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707489C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773161] Chr5:112707489 [GRCh38]
Chr5:112043186 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1735G>A (p.Val579Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653538] Chr5:112828964 [GRCh38]
Chr5:112164661 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4749G>A (p.Met1583Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745505] Chr5:112840343 [GRCh38]
Chr5:112176040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2561G>T (p.Arg854Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745401] Chr5:112838155 [GRCh38]
Chr5:112173852 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5114C>A (p.Thr1705Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772714] Chr5:112840708 [GRCh38]
Chr5:112176405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-15A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002560388] Chr5:112801264 [GRCh38]
Chr5:112136961 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NC_000005.10:g.112707467G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002550501] Chr5:112707467 [GRCh38]
Chr5:112043164 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1021C>G (p.Gln341Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773299] Chr5:112819053 [GRCh38]
Chr5:112154750 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3907C>A (p.Gln1303Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772614]|Hereditary cancer-predisposing syndrome [RCV003585000] Chr5:112839501 [GRCh38]
Chr5:112175198 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3638C>A (p.Ser1213Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772831] Chr5:112839232 [GRCh38]
Chr5:112174929 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5415C>G (p.Phe1805Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772756] Chr5:112841009 [GRCh38]
Chr5:112176706 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4807C>A (p.Pro1603Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745514]|Hereditary cancer-predisposing syndrome [RCV003585187] Chr5:112840401 [GRCh38]
Chr5:112176098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707460C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745432] Chr5:112707460 [GRCh38]
Chr5:112043157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6627T>G (p.Ile2209Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552125] Chr5:112842221 [GRCh38]
Chr5:112177918 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.36T>C (p.Pro12=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745444] Chr5:112707753 [GRCh38]
Chr5:112043450 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7780T>C (p.Ser2594Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773166] Chr5:112843374 [GRCh38]
Chr5:112179071 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4943C>T (p.Pro1648Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653542] Chr5:112840537 [GRCh38]
Chr5:112176234 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5462A>G (p.Lys1821Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002642043] Chr5:112841056 [GRCh38]
Chr5:112176753 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707356C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773295] Chr5:112707356 [GRCh38]
Chr5:112043053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7382C>T (p.Ser2461Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV002556448] Chr5:112842976 [GRCh38]
Chr5:112178673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1566G>A (p.Met522Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773367]|Hereditary cancer-predisposing syndrome [RCV002256886] Chr5:112827946 [GRCh38]
Chr5:112163643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2104G>A (p.Gly702Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534797]|Hereditary cancer-predisposing syndrome [RCV002423116] Chr5:112837698 [GRCh38]
Chr5:112173395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707405G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534796] Chr5:112707405 [GRCh38]
Chr5:112043102 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5854C>A (p.Gln1952Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773462] Chr5:112841448 [GRCh38]
Chr5:112177145 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2154_2155dup (p.Ala719fs) duplication Familial adenomatous polyposis 1 [RCV003745367] Chr5:112837747..112837748 [GRCh38]
Chr5:112173444..112173445 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1179dup (p.Gln394fs) duplication Familial adenomatous polyposis 1 [RCV003337378] Chr5:112819210..112819211 [GRCh38]
Chr5:112154907..112154908 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1959-4T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534800]|Hereditary cancer-predisposing syndrome [RCV002423139] Chr5:112837549 [GRCh38]
Chr5:112173246 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7629G>T (p.Arg2543Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772918]|Hereditary cancer-predisposing syndrome [RCV002388910] Chr5:112843223 [GRCh38]
Chr5:112178920 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5837C>A (p.Ala1946Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772772] Chr5:112841431 [GRCh38]
Chr5:112177128 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3767A>C (p.Gln1256Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653544] Chr5:112839361 [GRCh38]
Chr5:112175058 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3752T>G (p.Val1251Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773519] Chr5:112839346 [GRCh38]
Chr5:112175043 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8166del (p.Asn2723fs) deletion Familial adenomatous polyposis 1 [RCV003745522] Chr5:112843760 [GRCh38]
Chr5:112179457 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8188G>C (p.Ala2730Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772552] Chr5:112843782 [GRCh38]
Chr5:112179479 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.305C>G (p.Ser102Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745372] Chr5:112767273 [GRCh38]
Chr5:112102970 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3953A>T (p.Asp1318Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772998] Chr5:112839547 [GRCh38]
Chr5:112175244 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+13G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003772744] Chr5:112707895 [GRCh38]
Chr5:112043592 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8074C>G (p.Pro2692Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772543] Chr5:112843668 [GRCh38]
Chr5:112179365 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5214_5215del (p.His1738fs) microsatellite Familial adenomatous polyposis 1 [RCV003772615] Chr5:112840806..112840807 [GRCh38]
Chr5:112176503..112176504 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2456T>C (p.Met819Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772781] Chr5:112838050 [GRCh38]
Chr5:112173747 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.153G>A (p.Ala51=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653505] Chr5:112707870 [GRCh38]
Chr5:112043567 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-3_730-2dup duplication Familial adenomatous polyposis 1 [RCV002562135] Chr5:112801274..112801275 [GRCh38]
Chr5:112136971..112136972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7914T>A (p.Ala2638=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772544]|not specified [RCV003493880] Chr5:112843508 [GRCh38]
Chr5:112179205 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2446_2456del (p.Thr816fs) deletion Familial adenomatous polyposis 1 [RCV003745453] Chr5:112838038..112838048 [GRCh38]
Chr5:112173735..112173745 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2027_2028del (p.Ile676fs) deletion Familial adenomatous polyposis 1 [RCV003772946] Chr5:112837620..112837621 [GRCh38]
Chr5:112173317..112173318 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.497C>T (p.Thr166Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002564336] Chr5:112775703 [GRCh38]
Chr5:112111400 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4075A>G (p.Lys1359Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745476] Chr5:112839669 [GRCh38]
Chr5:112175366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6305A>C (p.Lys2102Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002545500] Chr5:112841899 [GRCh38]
Chr5:112177596 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3267C>G (p.Phe1089Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745417]|Hereditary cancer-predisposing syndrome [RCV003303316] Chr5:112838861 [GRCh38]
Chr5:112174558 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4094G>T (p.Gly1365Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571339] Chr5:112839688 [GRCh38]
Chr5:112175385 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4925A>G (p.Tyr1642Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745362] Chr5:112840519 [GRCh38]
Chr5:112176216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1165A>G (p.Asn389Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772515] Chr5:112819197 [GRCh38]
Chr5:112154894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4077A>T (p.Lys1359Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653535]|Hereditary cancer-predisposing syndrome [RCV002256865] Chr5:112839671 [GRCh38]
Chr5:112175368 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.150G>C (p.Trp50Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653529] Chr5:112707867 [GRCh38]
Chr5:112043564 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5154dup (p.Glu1719fs) duplication Familial adenomatous polyposis 1 [RCV003337372] Chr5:112840747..112840748 [GRCh38]
Chr5:112176444..112176445 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6749G>A (p.Gly2250Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745518] Chr5:112842343 [GRCh38]
Chr5:112178040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.604G>A (p.Glu202Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV001902340] Chr5:112780862 [GRCh38]
Chr5:112116559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6827C>T (p.Pro2276Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773113] Chr5:112842421 [GRCh38]
Chr5:112178118 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707453C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745402] Chr5:112707453 [GRCh38]
Chr5:112043150 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112170638)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV001939284] Chr5:112170638..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3735_3736insTGCCTCAAAAG (p.Ala1246fs) insertion Familial adenomatous polyposis 1 [RCV003772709] Chr5:112839319..112839320 [GRCh38]
Chr5:112175016..112175017 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5463G>A (p.Lys1821=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653507] Chr5:112841057 [GRCh38]
Chr5:112176754 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3508A>G (p.Lys1170Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745418] Chr5:112839102 [GRCh38]
Chr5:112174799 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2053_2054del (p.Trp685fs) microsatellite Familial adenomatous polyposis 1 [RCV003337388]|Familial adenomatous polyposis 1 [RCV003745456]|Familial multiple polyposis syndrome [RCV002236384] Chr5:112837645..112837646 [GRCh38]
Chr5:112173342..112173343 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8294G>C (p.Ser2765Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773075]|Hereditary cancer-predisposing syndrome [RCV002425354] Chr5:112843888 [GRCh38]
Chr5:112179585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1910_1911insAGGAGCGGACGGGGCCCCCGGGGGCCGCGGGGGAGGCGCACCCCCCCGCCATTGCCACCCCCACTGCCGCGATTGCAACCACAGCCCCGCGGCCCCCCCCACGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGTGGAGGTGG (p.Ile638fs) insertion Familial adenomatous polyposis 1 [RCV003745457] Chr5:112835103..112835104 [GRCh38]
Chr5:112170800..112170801 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4826del (p.Pro1609fs) deletion Familial adenomatous polyposis 1 [RCV003534805] Chr5:112840419 [GRCh38]
Chr5:112176116 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1302C>G (p.Asp434Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745389] Chr5:112819334 [GRCh38]
Chr5:112155031 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6659A>C (p.Asn2220Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772558] Chr5:112842253 [GRCh38]
Chr5:112177950 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1801G>T (p.Glu601Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001884113] Chr5:112835008 [GRCh38]
Chr5:112170705 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7432C>A (p.Gln2478Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773131]|Hereditary cancer-predisposing syndrome [RCV003303553] Chr5:112843026 [GRCh38]
Chr5:112178723 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.281G>C (p.Arg94Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773132] Chr5:112767249 [GRCh38]
Chr5:112102946 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.159C>G (p.Val53=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773088] Chr5:112707876 [GRCh38]
Chr5:112043573 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.221-2A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773489] Chr5:112767187 [GRCh38]
Chr5:112102884 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_001127511.3(APC):c.-41G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003773086] Chr5:112707677 [GRCh38]
Chr5:112043374 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2753A>C (p.Glu918Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745381] Chr5:112838347 [GRCh38]
Chr5:112174044 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1109del (p.Leu370fs) deletion Familial adenomatous polyposis 1 [RCV003337377]|Familial adenomatous polyposis 1 [RCV003745425]|Hereditary cancer-predisposing syndrome [RCV002425243] Chr5:112819140 [GRCh38]
Chr5:112154837 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4580C>T (p.Pro1527Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772990]|Hereditary cancer-predisposing syndrome [RCV002334984] Chr5:112840174 [GRCh38]
Chr5:112175871 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6580_6582del (p.Val2194del) deletion Familial adenomatous polyposis 1 [RCV003773012] Chr5:112842174..112842176 [GRCh38]
Chr5:112177871..112177873 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-127G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653531] Chr5:112707591 [GRCh38]
Chr5:112043288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707378G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003772887] Chr5:112707378 [GRCh38]
Chr5:112043075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.403GAA[1] (p.Glu136del) microsatellite Familial adenomatous polyposis 1 [RCV003745479] Chr5:112767370..112767372 [GRCh38]
Chr5:112103067..112103069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.74A>C (p.Gln25Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002549054] Chr5:112754964 [GRCh38]
Chr5:112090661 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7430C>T (p.Ser2477Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773061] Chr5:112843024 [GRCh38]
Chr5:112178721 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5840C>A (p.Thr1947Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534795] Chr5:112841434 [GRCh38]
Chr5:112177131 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1639_1640del (p.Val547fs) microsatellite Familial adenomatous polyposis 1 [RCV003772941] Chr5:112828866..112828867 [GRCh38]
Chr5:112164563..112164564 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2377C>T (p.Gln793Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337381]|Familial multiple polyposis syndrome [RCV002300632]|not provided [RCV003478902] Chr5:112837971 [GRCh38]
Chr5:112173668 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3819dup (p.Cys1274fs) duplication Familial adenomatous polyposis 1 [RCV003772942] Chr5:112839412..112839413 [GRCh38]
Chr5:112175109..112175110 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1106T>A (p.Leu369Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001907272]|Familial adenomatous polyposis 1 [RCV003772517] Chr5:112819138 [GRCh38]
Chr5:112154835 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.280_281insTGGAGGAAATTGGACACCATCATTCTCAGTAAACTATCGCACGAACAAAAAACCAAACACCGCATCGTCTCAGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGTCCCTCC (p.Arg94delinsLeuGluGluIleGlyHisHisHisSerGlnTer) microsatellite Familial adenomatous polyposis 1 [RCV003745455] Chr5:112767234..112767235 [GRCh38]
Chr5:112102931..112102932 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.52C>G (p.Pro18Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534781] Chr5:112707769 [GRCh38]
Chr5:112043466 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707398A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002551206] Chr5:112707398 [GRCh38]
Chr5:112043095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5599T>G (p.Phe1867Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772530]|Hereditary cancer-predisposing syndrome [RCV002343916] Chr5:112841193 [GRCh38]
Chr5:112176890 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8442_8443insTTGT (p.Lys2815delinsLeuTer) insertion Familial adenomatous polyposis 1 [RCV001974879] Chr5:112844036..112844037 [GRCh38]
Chr5:112179733..112179734 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3928A>T (p.Lys1310Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001997436]|Familial adenomatous polyposis 1 [RCV003337380]|Hereditary cancer-predisposing syndrome [RCV002352643] Chr5:112839522 [GRCh38]
Chr5:112175219 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.505_507del (p.Ile169del) deletion Familial adenomatous polyposis 1 [RCV003773406] Chr5:112775710..112775712 [GRCh38]
Chr5:112111407..112111409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.475T>C (p.Tyr159His) single nucleotide variant Familial adenomatous polyposis 1 [RCV002569263] Chr5:112775681 [GRCh38]
Chr5:112111378 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.61G>C (p.Val21Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV001917991] Chr5:112707778 [GRCh38]
Chr5:112043475 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3362T>C (p.Ile1121Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745426]|not provided [RCV003442960] Chr5:112838956 [GRCh38]
Chr5:112174653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1289G>C (p.Gly430Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV001972357] Chr5:112819321 [GRCh38]
Chr5:112155018 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.140C>T (p.Ser47Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772879] Chr5:112707857 [GRCh38]
Chr5:112043554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5684C>A (p.Thr1895Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534813] Chr5:112841278 [GRCh38]
Chr5:112176975 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6353C>G (p.Ala2118Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745483]|Hereditary cancer-predisposing syndrome [RCV003170312] Chr5:112841947 [GRCh38]
Chr5:112177644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-179A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003772834] Chr5:112707539 [GRCh38]
Chr5:112043236 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.27G>A (p.Pro9=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745375] Chr5:112707744 [GRCh38]
Chr5:112043441 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4623G>C (p.Gln1541His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653526] Chr5:112840217 [GRCh38]
Chr5:112175914 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3616A>C (p.Ser1206Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773244]|Hereditary cancer-predisposing syndrome [RCV002458949] Chr5:112839210 [GRCh38]
Chr5:112174907 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707316A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003773243] Chr5:112707316 [GRCh38]
Chr5:112043013 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707348A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003745478] Chr5:112707348 [GRCh38]
Chr5:112043045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5644A>T (p.Arg1882Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772471] Chr5:112841238 [GRCh38]
Chr5:112176935 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3236C>T (p.Thr1079Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003464342]|Hereditary cancer-predisposing syndrome [RCV002442976] Chr5:112838830 [GRCh38]
Chr5:112174527 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-163G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653517] Chr5:112707555 [GRCh38]
Chr5:112043252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112090588)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV001899670] Chr5:112090588..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2083C>T (p.Gln695Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336482] Chr5:112837677 [GRCh38]
Chr5:112173374 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3880del (p.Gln1294fs) deletion Familial adenomatous polyposis 1 [RCV003534808] Chr5:112839474 [GRCh38]
Chr5:112175171 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.151G>C (p.Ala51Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002552311] Chr5:112707868 [GRCh38]
Chr5:112043565 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112043009)_(112103097_?)del deletion Familial adenomatous polyposis 1 [RCV001953492] Chr5:112043009..112103097 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5304G>C (p.Lys1768Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745371] Chr5:112840898 [GRCh38]
Chr5:112176595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707411C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002642138] Chr5:112707411 [GRCh38]
Chr5:112043108 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5028A>T (p.Arg1676Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773324] Chr5:112840622 [GRCh38]
Chr5:112176319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5890T>G (p.Ser1964Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772527] Chr5:112841484 [GRCh38]
Chr5:112177181 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1931G>C (p.Ser644Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772979] Chr5:112835138 [GRCh38]
Chr5:112170835 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2016_2017del (p.His672fs) deletion Familial adenomatous polyposis 1 [RCV002564391]|Familial adenomatous polyposis 1 [RCV003336481]|Hereditary cancer-predisposing syndrome [RCV002423144] Chr5:112837609..112837610 [GRCh38]
Chr5:112173306..112173307 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6170A>G (p.Lys2057Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534786] Chr5:112841764 [GRCh38]
Chr5:112177461 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8366G>A (p.Ser2789Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534787]|Hereditary cancer-predisposing syndrome [RCV002441008] Chr5:112843960 [GRCh38]
Chr5:112179657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7592C>G (p.Ser2531Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772790]|Hereditary cancer-predisposing syndrome [RCV003167127] Chr5:112843186 [GRCh38]
Chr5:112178883 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7666T>G (p.Ser2556Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002625394] Chr5:112843260 [GRCh38]
Chr5:112178957 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7682T>G (p.Val2561Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653519]|Hereditary cancer-predisposing syndrome [RCV003303373] Chr5:112843276 [GRCh38]
Chr5:112178973 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.168A>C (p.Glu56Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745440] Chr5:112766358 [GRCh38]
Chr5:112102055 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.526G>C (p.Glu176Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773459] Chr5:112775732 [GRCh38]
Chr5:112111429 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8459del (p.Thr2820fs) deletion Familial adenomatous polyposis 1 [RCV003773001] Chr5:112844053 [GRCh38]
Chr5:112179750 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6835A>T (p.Lys2279Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745452] Chr5:112842429 [GRCh38]
Chr5:112178126 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5295A>C (p.Leu1765Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773178] Chr5:112840889 [GRCh38]
Chr5:112176586 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2357G>T (p.Arg786Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773509] Chr5:112837951 [GRCh38]
Chr5:112173648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.484C>A (p.Leu162Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653510] Chr5:112775690 [GRCh38]
Chr5:112111387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7913C>T (p.Ala2638Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745427]|Hereditary cancer-predisposing syndrome [RCV003167200] Chr5:112843507 [GRCh38]
Chr5:112179204 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3579_3582del (p.Gln1193fs) deletion Familial adenomatous polyposis 1 [RCV003534775] Chr5:112839171..112839174 [GRCh38]
Chr5:112174868..112174871 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.593T>C (p.Val198Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745415] Chr5:112780851 [GRCh38]
Chr5:112116548 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2731G>A (p.Glu911Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745428] Chr5:112838325 [GRCh38]
Chr5:112174022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6747dup (p.Gly2250fs) duplication Familial adenomatous polyposis 1 [RCV002035452]|not provided [RCV003238884] Chr5:112842335..112842336 [GRCh38]
Chr5:112178032..112178033 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2021dup (p.Leu674fs) duplication Familial adenomatous polyposis 1 [RCV003745441] Chr5:112837612..112837613 [GRCh38]
Chr5:112173309..112173310 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2876C>A (p.Ser959Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773291]|Hereditary cancer-predisposing syndrome [RCV002441177] Chr5:112838470 [GRCh38]
Chr5:112174167 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-4A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773297] Chr5:112801275 [GRCh38]
Chr5:112136972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4766del (p.Arg1589fs) deletion Familial adenomatous polyposis 1 [RCV003772674] Chr5:112840360 [GRCh38]
Chr5:112176057 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.842C>G (p.Thr281Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745414] Chr5:112815502 [GRCh38]
Chr5:112151199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4046A>T (p.His1349Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745416]|Hereditary cancer-predisposing syndrome [RCV002324284] Chr5:112839640 [GRCh38]
Chr5:112175337 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7754A>G (p.Lys2585Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773114] Chr5:112843348 [GRCh38]
Chr5:112179045 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2560A>G (p.Arg854Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV001907013] Chr5:112838154 [GRCh38]
Chr5:112173851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3653del (p.Thr1218fs) deletion Familial adenomatous polyposis 1 [RCV003337382] Chr5:112839247 [GRCh38]
Chr5:112174944 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.59A>C (p.Asn20Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV001997526] Chr5:112754949 [GRCh38]
Chr5:112090646 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3208A>T (p.Asn1070Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV001959914] Chr5:112838802 [GRCh38]
Chr5:112174499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1254A>T (p.Glu418Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745484] Chr5:112819286 [GRCh38]
Chr5:112154983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1955A>C (p.His652Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002579516] Chr5:112835162 [GRCh38]
Chr5:112170859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7910G>T (p.Gly2637Val) single nucleotide variant APC-related condition [RCV003968671]|Familial adenomatous polyposis 1 [RCV003745485]|Hereditary cancer-predisposing syndrome [RCV003339866] Chr5:112843504 [GRCh38]
Chr5:112179201 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1255del (p.Thr419fs) deletion Familial adenomatous polyposis 1 [RCV003745454]|Hereditary cancer-predisposing syndrome [RCV002423141] Chr5:112819285 [GRCh38]
Chr5:112154982 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5750C>T (p.Pro1917Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772568] Chr5:112841344 [GRCh38]
Chr5:112177041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2773A>T (p.Ser925Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773129] Chr5:112838367 [GRCh38]
Chr5:112174064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8416C>T (p.Pro2806Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773102] Chr5:112844010 [GRCh38]
Chr5:112179707 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2612dup (p.Thr872fs) duplication Familial adenomatous polyposis 1 [RCV003772679] Chr5:112838204..112838205 [GRCh38]
Chr5:112173901..112173902 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1879A>G (p.Asn627Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745439] Chr5:112835086 [GRCh38]
Chr5:112170783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1612_1619del (p.Glu538fs) deletion Familial adenomatous polyposis 1 [RCV003745404] Chr5:112827991..112827998 [GRCh38]
Chr5:112163688..112163695 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-127G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002560643] Chr5:112707591 [GRCh38]
Chr5:112043288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.413A>C (p.Glu138Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002557701] Chr5:112767381 [GRCh38]
Chr5:112103078 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2109dup (p.Val704fs) duplication Familial adenomatous polyposis 1 [RCV003745435] Chr5:112837702..112837703 [GRCh38]
Chr5:112173399..112173400 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6044A>G (p.Glu2015Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745512]|Hereditary cancer-predisposing syndrome [RCV002352725] Chr5:112841638 [GRCh38]
Chr5:112177335 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707419G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV001900768] Chr5:112707419 [GRCh38]
Chr5:112043116 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7090A>T (p.Met2364Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772768] Chr5:112842684 [GRCh38]
Chr5:112178381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707370C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003772638] Chr5:112707370 [GRCh38]
Chr5:112043067 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707309_112707312delinsCCCA indel Familial adenomatous polyposis 1 [RCV003773270] Chr5:112707309..112707312 [GRCh38]
Chr5:112043006..112043009 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+6_165+9del microsatellite Familial adenomatous polyposis 1 [RCV003772717] Chr5:112707883..112707886 [GRCh38]
Chr5:112043580..112043583 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707457T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534762] Chr5:112707457 [GRCh38]
Chr5:112043154 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1039A>C (p.Met347Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743787] Chr5:112819071 [GRCh38]
Chr5:112154768 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6240G>T (p.Leu2080Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772528] Chr5:112841834 [GRCh38]
Chr5:112177531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5662A>C (p.Lys1888Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772622] Chr5:112841256 [GRCh38]
Chr5:112176953 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707381C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003773173] Chr5:112707381 [GRCh38]
Chr5:112043078 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.217A>G (p.Lys73Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772554] Chr5:112766407 [GRCh38]
Chr5:112102104 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707440C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653501] Chr5:112707440 [GRCh38]
Chr5:112043137 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-95C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003772770] Chr5:112707623 [GRCh38]
Chr5:112043320 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.917G>A (p.Ser306Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772469] Chr5:112815577 [GRCh38]
Chr5:112151274 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7938A>T (p.Gln2646His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773068] Chr5:112843532 [GRCh38]
Chr5:112179229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5152G>A (p.Ala1718Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534780]|Hereditary cancer-predisposing syndrome [RCV003167035] Chr5:112840746 [GRCh38]
Chr5:112176443 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4835T>G (p.Leu1612Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745490] Chr5:112840429 [GRCh38]
Chr5:112176126 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7663T>C (p.Ser2555Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772657] Chr5:112843257 [GRCh38]
Chr5:112178954 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-109C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534793]|not specified [RCV003493893] Chr5:112707609 [GRCh38]
Chr5:112043306 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8486A>C (p.Gln2829Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772785] Chr5:112844080 [GRCh38]
Chr5:112179777 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.194A>G (p.Gln65Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773035] Chr5:112766384 [GRCh38]
Chr5:112102081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2666A>C (p.Lys889Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772665]|Hereditary cancer-predisposing syndrome [RCV002425177] Chr5:112838260 [GRCh38]
Chr5:112173957 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3141A>C (p.Glu1047Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002562030]|Hereditary cancer-predisposing syndrome [RCV003167337] Chr5:112838735 [GRCh38]
Chr5:112174432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.322G>T (p.Gly108Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002556380] Chr5:112767290 [GRCh38]
Chr5:112102987 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6920C>A (p.Ser2307Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745361] Chr5:112842514 [GRCh38]
Chr5:112178211 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2772A>C (p.Arg924Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV001917751]|Hereditary cancer-predisposing syndrome [RCV002440995] Chr5:112838366 [GRCh38]
Chr5:112174063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4943C>G (p.Pro1648Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772545] Chr5:112840537 [GRCh38]
Chr5:112176234 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.301_303dup (p.Gly101dup) duplication Familial adenomatous polyposis 1 [RCV003653503] Chr5:112767267..112767268 [GRCh38]
Chr5:112102964..112102965 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4835del (p.Leu1612fs) deletion Familial adenomatous polyposis 1 [RCV003772571] Chr5:112840429 [GRCh38]
Chr5:112176126 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5635G>A (p.Ala1879Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773258]|Hereditary cancer-predisposing syndrome [RCV003170459] Chr5:112841229 [GRCh38]
Chr5:112176926 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707404_112707424dup duplication Familial adenomatous polyposis 1 [RCV001934246] Chr5:112707399..112707400 [GRCh38]
Chr5:112043096..112043097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5601T>G (p.Phe1867Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653525]|Hereditary cancer-predisposing syndrome [RCV003585157] Chr5:112841195 [GRCh38]
Chr5:112176892 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3407A>G (p.Glu1136Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773388] Chr5:112839001 [GRCh38]
Chr5:112174698 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-123C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV001984128] Chr5:112707595 [GRCh38]
Chr5:112043292 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1861A>G (p.Thr621Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773399] Chr5:112835068 [GRCh38]
Chr5:112170765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5267_5268delinsTG (p.Ser1756Leu) indel Familial adenomatous polyposis 1 [RCV003745527]|Hereditary cancer-predisposing syndrome [RCV002337148] Chr5:112840861..112840862 [GRCh38]
Chr5:112176558..112176559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.457A>T (p.Lys153Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV001951273]|Familial adenomatous polyposis 1 [RCV003772949]|Hereditary cancer-predisposing syndrome [RCV002334972] Chr5:112775663 [GRCh38]
Chr5:112111360 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3502G>A (p.Glu1168Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773279] Chr5:112839096 [GRCh38]
Chr5:112174793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5797T>C (p.Phe1933Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV001955844] Chr5:112841391 [GRCh38]
Chr5:112177088 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8051A>G (p.Asp2684Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653534] Chr5:112843645 [GRCh38]
Chr5:112179342 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-69G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002561329] Chr5:112707649 [GRCh38]
Chr5:112043346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3765C>G (p.Asn1255Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV002642019] Chr5:112839359 [GRCh38]
Chr5:112175056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-122T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534772] Chr5:112707596 [GRCh38]
Chr5:112043293 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+18T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534778] Chr5:112828990 [GRCh38]
Chr5:112164687 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.8008A>G (p.Arg2670Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653508]|Hereditary cancer-predisposing syndrome [RCV003164276] Chr5:112843602 [GRCh38]
Chr5:112179299 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6189_6190del (p.His2063fs) deletion Familial adenomatous polyposis 1 [RCV003337387]|Hereditary cancer-predisposing syndrome [RCV002352652] Chr5:112841782..112841783 [GRCh38]
Chr5:112177479..112177480 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.60A>T (p.Ser20=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745413] Chr5:112707777 [GRCh38]
Chr5:112043474 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.539T>C (p.Leu180Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772401] Chr5:112780797 [GRCh38]
Chr5:112116494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.791A>C (p.Gln264Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571257] Chr5:112801340 [GRCh38]
Chr5:112137037 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-2A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003336486] Chr5:112780788 [GRCh38]
Chr5:112116485 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3505_3509del (p.Glu1169fs) deletion Familial adenomatous polyposis 1 [RCV002569150]|Familial adenomatous polyposis 1 [RCV003534807]|Hereditary cancer-predisposing syndrome [RCV002458888] Chr5:112839096..112839100 [GRCh38]
Chr5:112174793..112174797 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4904G>T (p.Gly1635Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002545659]|Hereditary cancer-predisposing syndrome [RCV002334727] Chr5:112840498 [GRCh38]
Chr5:112176195 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.683T>C (p.Ile228Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV002545579]|Hereditary cancer-predisposing syndrome [RCV002361398] Chr5:112792483 [GRCh38]
Chr5:112128180 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2023_2033del (p.Leu674_Thr675insTer) deletion Familial adenomatous polyposis 1 [RCV003772799] Chr5:112837616..112837626 [GRCh38]
Chr5:112173313..112173323 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.152T>C (p.Leu51Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002545719] Chr5:112766342 [GRCh38]
Chr5:112102039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1841C>A (p.Ala614Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745387] Chr5:112835048 [GRCh38]
Chr5:112170745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.767A>T (p.Asp256Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745488] Chr5:112801316 [GRCh38]
Chr5:112137013 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1959-1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003336504] Chr5:112837552 [GRCh38]
Chr5:112173249 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5048A>G (p.Glu1683Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773137] Chr5:112840642 [GRCh38]
Chr5:112176339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-20C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773241] Chr5:112707698 [GRCh38]
Chr5:112043395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.926G>C (p.Gly309Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003772806] Chr5:112815586 [GRCh38]
Chr5:112151283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4526T>G (p.Leu1509Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745368] Chr5:112840120 [GRCh38]
Chr5:112175817 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2242A>G (p.Ser748Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745461] Chr5:112837836 [GRCh38]
Chr5:112173533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7636A>T (p.Thr2546Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745503] Chr5:112843230 [GRCh38]
Chr5:112178927 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+3A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002561352] Chr5:112780906 [GRCh38]
Chr5:112116603 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1205G>C (p.Arg402Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745392] Chr5:112819237 [GRCh38]
Chr5:112154934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-128_-127delinsTT indel Familial adenomatous polyposis 1 [RCV003772849] Chr5:112707590..112707591 [GRCh38]
Chr5:112043287..112043288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707364C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002571280] Chr5:112707364 [GRCh38]
Chr5:112043061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6893C>G (p.Ala2298Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773307]|not provided [RCV003325594] Chr5:112842487 [GRCh38]
Chr5:112178184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112001178)_(112043328_?)del deletion Familial adenomatous polyposis 1 [RCV001920059] Chr5:112001178..112043328 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4510_4513del (p.Ser1504fs) deletion Familial adenomatous polyposis 1 [RCV003337383] Chr5:112840102..112840105 [GRCh38]
Chr5:112175799..112175802 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6401C>T (p.Ser2134Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653545]|Hereditary cancer-predisposing syndrome [RCV002361294] Chr5:112841995 [GRCh38]
Chr5:112177692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4969_4980del (p.Leu1657_Leu1660del) deletion Familial adenomatous polyposis 1 [RCV003773077] Chr5:112840563..112840574 [GRCh38]
Chr5:112176260..112176271 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3871C>G (p.Gln1291Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534785] Chr5:112839465 [GRCh38]
Chr5:112175162 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8068G>C (p.Ala2690Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV002553613]|Hereditary cancer-predisposing syndrome [RCV002422980] Chr5:112843662 [GRCh38]
Chr5:112179359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2887A>G (p.Ser963Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653527] Chr5:112838481 [GRCh38]
Chr5:112174178 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6740C>A (p.Ser2247Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773059] Chr5:112842334 [GRCh38]
Chr5:112178031 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1402_1403dup (p.Leu469fs) duplication Familial adenomatous polyposis 1 [RCV002547988] Chr5:112821984..112821985 [GRCh38]
Chr5:112157681..112157682 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.933+11A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653565] Chr5:112815604 [GRCh38]
Chr5:112151301 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2004C>T (p.His668=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743794] Chr5:112837598 [GRCh38]
Chr5:112173295 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+721A>G single nucleotide variant not provided [RCV002211017] Chr5:112816314 [GRCh38]
Chr5:112152011 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7689T>C (p.Thr2563=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773877]|Hereditary cancer-predisposing syndrome [RCV003308003] Chr5:112843283 [GRCh38]
Chr5:112178980 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6660C>T (p.Asn2220=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534827] Chr5:112842254 [GRCh38]
Chr5:112177951 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3525G>A (p.Gln1175=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743796]|Hereditary cancer-predisposing syndrome [RCV002454379] Chr5:112839119 [GRCh38]
Chr5:112174816 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6112C>T (p.Leu2038=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743822] Chr5:112841706 [GRCh38]
Chr5:112177403 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-14A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003773856] Chr5:112780776 [GRCh38]
Chr5:112116473 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7881T>G (p.Ser2627=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653557] Chr5:112843475 [GRCh38]
Chr5:112179172 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+8C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV002145303] Chr5:112819352 [GRCh38]
Chr5:112155049 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4836G>T (p.Leu1612=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774106] Chr5:112840430 [GRCh38]
Chr5:112176127 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8052C>T (p.Asp2684=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653563]|Hereditary cancer-predisposing syndrome [RCV002407397] Chr5:112843646 [GRCh38]
Chr5:112179343 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1765T>C (p.Leu589=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773833] Chr5:112834972 [GRCh38]
Chr5:112170669 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-20C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653578] Chr5:112834931 [GRCh38]
Chr5:112170628 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6609T>G (p.Val2203=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773545] Chr5:112842203 [GRCh38]
Chr5:112177900 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3205A>C (p.Arg1069=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774036]|Hereditary cancer-predisposing syndrome [RCV003161656] Chr5:112838799 [GRCh38]
Chr5:112174496 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5511T>C (p.Ser1837=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534824]|Hereditary cancer-predisposing syndrome [RCV002346393] Chr5:112841105 [GRCh38]
Chr5:112176802 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5649G>A (p.Lys1883=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743826] Chr5:112841243 [GRCh38]
Chr5:112176940 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+13T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003773666] Chr5:112822004 [GRCh38]
Chr5:112157701 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1878A>G (p.Thr626=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774013]|Hereditary cancer-predisposing syndrome [RCV002409591] Chr5:112835085 [GRCh38]
Chr5:112170782 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2013T>C (p.Ser671=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773547] Chr5:112837607 [GRCh38]
Chr5:112173304 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1917A>G (p.Leu639=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743830] Chr5:112835124 [GRCh38]
Chr5:112170821 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7722T>C (p.Leu2574=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774127] Chr5:112843316 [GRCh38]
Chr5:112179013 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2742T>C (p.Cys914=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773916] Chr5:112838336 [GRCh38]
Chr5:112174033 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7896A>G (p.Ser2632=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773619] Chr5:112843490 [GRCh38]
Chr5:112179187 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8124T>C (p.Asn2708=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743808] Chr5:112843718 [GRCh38]
Chr5:112179415 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5970T>C (p.Thr1990=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002169835] Chr5:112841564 [GRCh38]
Chr5:112177261 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.833_834insT (p.Gln278fs) insertion Colorectal cancer [RCV002249249] Chr5:112801382..112801383 [GRCh38]
Chr5:112137079..112137080 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1350G>T (p.Val450=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003107945] Chr5:112821933 [GRCh38]
Chr5:112157630 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6939C>A (p.Ala2313=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743824]|Hereditary cancer-predisposing syndrome [RCV002372961] Chr5:112842533 [GRCh38]
Chr5:112178230 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7551T>C (p.Tyr2517=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773730]|Hereditary cancer-predisposing syndrome [RCV002391193] Chr5:112843145 [GRCh38]
Chr5:112178842 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-8C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773752] Chr5:112801271 [GRCh38]
Chr5:112136968 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-16G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534834] Chr5:112827092 [GRCh38]
Chr5:112162789 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1194G>A (p.Lys398=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743789] Chr5:112819226 [GRCh38]
Chr5:112154923 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3843A>G (p.Ser1281=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773681] Chr5:112839437 [GRCh38]
Chr5:112175134 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.422+18A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV002129338] Chr5:112767408 [GRCh38]
Chr5:112103105 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3213A>G (p.Gln1071=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773736] Chr5:112838807 [GRCh38]
Chr5:112174504 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6567A>G (p.Lys2189=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534833]|Hereditary cancer-predisposing syndrome [RCV003161507] Chr5:112842161 [GRCh38]
Chr5:112177858 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934-8G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773555] Chr5:112818958 [GRCh38]
Chr5:112154655 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1743+14C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773823] Chr5:112828986 [GRCh38]
Chr5:112164683 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2088A>G (p.Glu696=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002128873] Chr5:112837682 [GRCh38]
Chr5:112173379 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3885del (p.Ala1296fs) deletion Familial adenomatous polyposis 1 [RCV002244283] Chr5:112839478 [GRCh38]
Chr5:112175175 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1737T>C (p.Val579=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002210158]|Hereditary cancer-predisposing syndrome [RCV002398190] Chr5:112828966 [GRCh38]
Chr5:112164663 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6687A>T (p.Thr2229=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653575] Chr5:112842281 [GRCh38]
Chr5:112177978 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2385C>G (p.Leu795=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743791] Chr5:112837979 [GRCh38]
Chr5:112173676 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2460T>C (p.Thr820=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002087112]|Hereditary cancer-predisposing syndrome [RCV002443086] Chr5:112838054 [GRCh38]
Chr5:112173751 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6549T>A (p.Ser2183=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773886] Chr5:112842143 [GRCh38]
Chr5:112177840 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2265G>A (p.Arg755=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773530] Chr5:112837859 [GRCh38]
Chr5:112173556 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2499C>T (p.Ser833=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774034] Chr5:112838093 [GRCh38]
Chr5:112173790 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2730T>G (p.Thr910=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774037] Chr5:112838324 [GRCh38]
Chr5:112174021 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3567A>T (p.Ser1189=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653567] Chr5:112839161 [GRCh38]
Chr5:112174858 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3174T>C (p.Asp1058=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773723]|Hereditary cancer-predisposing syndrome [RCV002324551] Chr5:112838768 [GRCh38]
Chr5:112174465 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.786A>G (p.Glu262=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773593] Chr5:112801335 [GRCh38]
Chr5:112137032 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4767T>G (p.Arg1589=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774101] Chr5:112840361 [GRCh38]
Chr5:112176058 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8136C>T (p.Pro2712=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743807] Chr5:112843730 [GRCh38]
Chr5:112179427 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.422+14A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003743832] Chr5:112767404 [GRCh38]
Chr5:112103101 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-15G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534831] Chr5:112827914 [GRCh38]
Chr5:112163611 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7929A>T (p.Leu2643=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653570] Chr5:112843523 [GRCh38]
Chr5:112179220 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2736A>G (p.Leu912=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774088]|Hereditary cancer-predisposing syndrome [RCV002434588] Chr5:112838330 [GRCh38]
Chr5:112174027 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5538C>T (p.Tyr1846=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773853] Chr5:112841132 [GRCh38]
Chr5:112176829 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7392T>C (p.Ser2464=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743805] Chr5:112842986 [GRCh38]
Chr5:112178683 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4617A>C (p.Ser1539=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773927]|Hereditary cancer-predisposing syndrome [RCV002331805] Chr5:112840211 [GRCh38]
Chr5:112175908 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3378C>T (p.Ser1126=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534839] Chr5:112838972 [GRCh38]
Chr5:112174669 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2121C>G (p.Leu707=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773710] Chr5:112837715 [GRCh38]
Chr5:112173412 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-687_1744-686del deletion not provided [RCV002214358] Chr5:112834261..112834262 [GRCh38]
Chr5:112169958..112169959 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.2578C>T (p.Leu860=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534823]|Hereditary cancer-predisposing syndrome [RCV003289427] Chr5:112838172 [GRCh38]
Chr5:112173869 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7260T>C (p.Ser2420=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653582]|Hereditary cancer-predisposing syndrome [RCV002258388] Chr5:112842854 [GRCh38]
Chr5:112178551 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+13T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534828] Chr5:112819357 [GRCh38]
Chr5:112155054 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3441C>T (p.Tyr1147=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773739]|Hereditary cancer-predisposing syndrome [RCV002454401] Chr5:112839035 [GRCh38]
Chr5:112174732 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6435A>G (p.Gly2145=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653568]|Hereditary cancer-predisposing syndrome [RCV002361497] Chr5:112842029 [GRCh38]
Chr5:112177726 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.422+11T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003774033] Chr5:112767401 [GRCh38]
Chr5:112103098 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.422+10C>G single nucleotide variant Desmoid disease, hereditary [RCV002500307]|Familial adenomatous polyposis 1 [RCV002150930] Chr5:112767400 [GRCh38]
Chr5:112103097 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5133T>C (p.Pro1711=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773802] Chr5:112840727 [GRCh38]
Chr5:112176424 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5928C>T (p.Asp1976=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653555] Chr5:112841522 [GRCh38]
Chr5:112177219 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+14A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534836] Chr5:112819358 [GRCh38]
Chr5:112155055 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.835-20A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003774038] Chr5:112815475 [GRCh38]
Chr5:112151172 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1671A>C (p.Val557=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743800] Chr5:112828900 [GRCh38]
Chr5:112164597 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.246C>T (p.Phe82=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743806]|Hereditary cancer-predisposing syndrome [RCV003303752] Chr5:112767214 [GRCh38]
Chr5:112102911 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7710A>T (p.Ser2570=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773997] Chr5:112843304 [GRCh38]
Chr5:112179001 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7677T>G (p.Pro2559=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773895]|Hereditary cancer-predisposing syndrome [RCV003585222] Chr5:112843271 [GRCh38]
Chr5:112178968 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+9_933+11del microsatellite Familial adenomatous polyposis 1 [RCV003773722] Chr5:112815599..112815601 [GRCh38]
Chr5:112151296..112151298 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5556T>C (p.Thr1852=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653583]|Hereditary cancer-predisposing syndrome [RCV002346541] Chr5:112841150 [GRCh38]
Chr5:112176847 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4851T>G (p.Leu1617=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743809] Chr5:112840445 [GRCh38]
Chr5:112176142 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-7T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743810] Chr5:112766319 [GRCh38]
Chr5:112102016 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1548+20A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003107955] Chr5:112827267 [GRCh38]
Chr5:112162964 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4644C>T (p.Asn1548=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773713] Chr5:112840238 [GRCh38]
Chr5:112175935 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4011G>T (p.Leu1337=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743811] Chr5:112839605 [GRCh38]
Chr5:112175302 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5034G>T (p.Gly1678=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773754]|Hereditary cancer-predisposing syndrome [RCV002346400] Chr5:112840628 [GRCh38]
Chr5:112176325 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3321C>T (p.Ala1107=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743813] Chr5:112838915 [GRCh38]
Chr5:112174612 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2580A>G (p.Leu860=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774008]|Hereditary cancer-predisposing syndrome [RCV002427709] Chr5:112838174 [GRCh38]
Chr5:112173871 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+15G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002175094] Chr5:112819359 [GRCh38]
Chr5:112155056 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8190C>G (p.Ala2730=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002171723] Chr5:112843784 [GRCh38]
Chr5:112179481 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3237T>G (p.Thr1079=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773874]|Hereditary cancer-predisposing syndrome [RCV002325667] Chr5:112838831 [GRCh38]
Chr5:112174528 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6297T>C (p.Phe2099=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534822] Chr5:112841891 [GRCh38]
Chr5:112177588 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8520G>A (p.Val2840=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743825] Chr5:112844114 [GRCh38]
Chr5:112179811 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1338C>A (p.Ile446=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774070]|Hereditary cancer-predisposing syndrome [RCV002382452] Chr5:112821921 [GRCh38]
Chr5:112157618 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.1830T>C (p.Asp610=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743799]|Hereditary cancer-predisposing syndrome [RCV002407378] Chr5:112835037 [GRCh38]
Chr5:112170734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8517T>C (p.Leu2839=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560761]|Hereditary cancer-predisposing syndrome [RCV003585198] Chr5:112844111 [GRCh38]
Chr5:112179808 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.729+13C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534826] Chr5:112792542 [GRCh38]
Chr5:112128239 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.834+11T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003743818] Chr5:112801394 [GRCh38]
Chr5:112137091 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+16G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003773962]|not specified [RCV003320875] Chr5:112766426 [GRCh38]
Chr5:112102123 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7965G>A (p.Glu2655=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743827] Chr5:112843559 [GRCh38]
Chr5:112179256 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6402C>T (p.Ser2134=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534830] Chr5:112841996 [GRCh38]
Chr5:112177693 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6882G>C (p.Gly2294=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653562] Chr5:112842476 [GRCh38]
Chr5:112178173 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3420T>A (p.Pro1140=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653566] Chr5:112839014 [GRCh38]
Chr5:112174711 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3657C>G (p.Ser1219=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653558]|Hereditary cancer-predisposing syndrome [RCV002346390] Chr5:112839251 [GRCh38]
Chr5:112174948 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2211C>T (p.Tyr737=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534832] Chr5:112837805 [GRCh38]
Chr5:112173502 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-20A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653574]|not specified [RCV003320869] Chr5:112827909 [GRCh38]
Chr5:112163606 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1548+16A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653569] Chr5:112827263 [GRCh38]
Chr5:112162960 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934-13A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003773776] Chr5:112818953 [GRCh38]
Chr5:112154650 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4083C>A (p.Pro1361=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773902] Chr5:112839677 [GRCh38]
Chr5:112175374 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+7T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003773636] Chr5:112828013 [GRCh38]
Chr5:112163710 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7296A>G (p.Ser2432=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743814]|Hereditary cancer-predisposing syndrome [RCV002382378] Chr5:112842890 [GRCh38]
Chr5:112178587 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1313-7T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773869] Chr5:112821889 [GRCh38]
Chr5:112157586 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+15T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003774041] Chr5:112780918 [GRCh38]
Chr5:112116615 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-19G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773534] Chr5:112792427 [GRCh38]
Chr5:112128124 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-16G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003743816] Chr5:112766310 [GRCh38]
Chr5:112102007 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2460T>G (p.Thr820=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743828] Chr5:112838054 [GRCh38]
Chr5:112173751 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-19C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534841] Chr5:112827089 [GRCh38]
Chr5:112162786 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4819A>C (p.Arg1607=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773940]|Hereditary cancer-predisposing syndrome [RCV002337362] Chr5:112840413 [GRCh38]
Chr5:112176110 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6051C>G (p.Thr2017=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743790] Chr5:112841645 [GRCh38]
Chr5:112177342 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.150A>G (p.Gln50=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002095466] Chr5:112766340 [GRCh38]
Chr5:112102037 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5526A>C (p.Ser1842=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743792]|Hereditary cancer-predisposing syndrome [RCV002346356] Chr5:112841120 [GRCh38]
Chr5:112176817 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.835-12C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653573] Chr5:112815483 [GRCh38]
Chr5:112151180 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6570A>G (p.Gly2190=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774109] Chr5:112842164 [GRCh38]
Chr5:112177861 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8412G>A (p.Gln2804=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002560762] Chr5:112844006 [GRCh38]
Chr5:112179703 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7806A>G (p.Lys2602=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002173097]|Hereditary cancer-predisposing syndrome [RCV002407348] Chr5:112843400 [GRCh38]
Chr5:112179097 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5565T>C (p.Cys1855=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774094]|Hereditary cancer-predisposing syndrome [RCV002346547] Chr5:112841159 [GRCh38]
Chr5:112176856 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4182T>C (p.Asp1394=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534818] Chr5:112839776 [GRCh38]
Chr5:112175473 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1584A>G (p.Ala528=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773703] Chr5:112827964 [GRCh38]
Chr5:112163661 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2727C>T (p.Thr909=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773831]|Hereditary cancer-predisposing syndrome [RCV003161566] Chr5:112838321 [GRCh38]
Chr5:112174018 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6336A>G (p.Val2112=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773928] Chr5:112841930 [GRCh38]
Chr5:112177627 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7383A>C (p.Ser2461=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653561] Chr5:112842977 [GRCh38]
Chr5:112178674 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.835-16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534840] Chr5:112815479 [GRCh38]
Chr5:112151176 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7707T>C (p.Ser2569=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743821] Chr5:112843301 [GRCh38]
Chr5:112178998 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2679A>G (p.Glu893=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773705] Chr5:112838273 [GRCh38]
Chr5:112173970 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-9_1627-6del deletion Familial adenomatous polyposis 1 [RCV003773709] Chr5:112828844..112828847 [GRCh38]
Chr5:112164541..112164544 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+17C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743831] Chr5:112828023 [GRCh38]
Chr5:112163720 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5460C>G (p.Ser1820=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773708] Chr5:112841054 [GRCh38]
Chr5:112176751 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.762A>G (p.Ser254=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743819] Chr5:112801311 [GRCh38]
Chr5:112137008 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1404A>G (p.Glu468=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773712] Chr5:112821987 [GRCh38]
Chr5:112157684 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5157G>A (p.Glu1719=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534838]|Hereditary cancer-predisposing syndrome [RCV002337323] Chr5:112840751 [GRCh38]
Chr5:112176448 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2179A>C (p.Arg727=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002150834] Chr5:112837773 [GRCh38]
Chr5:112173470 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3288G>A (p.Gln1096=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653579]|Hereditary cancer-predisposing syndrome [RCV002443240] Chr5:112838882 [GRCh38]
Chr5:112174579 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5559T>G (p.Pro1853=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653581]|Hereditary cancer-predisposing syndrome [RCV002346506] Chr5:112841153 [GRCh38]
Chr5:112176850 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.432T>A (p.Leu144=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774085]|Hereditary cancer-predisposing syndrome [RCV002331835] Chr5:112775638 [GRCh38]
Chr5:112111335 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5427A>G (p.Lys1809=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773987] Chr5:112841021 [GRCh38]
Chr5:112176718 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6333A>T (p.Ile2111=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773537] Chr5:112841927 [GRCh38]
Chr5:112177624 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-10G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002174636] Chr5:112780780 [GRCh38]
Chr5:112116477 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1827A>G (p.Val609=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774073] Chr5:112835034 [GRCh38]
Chr5:112170731 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1641T>C (p.Val547=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002157251] Chr5:112828870 [GRCh38]
Chr5:112164567 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4866C>T (p.Asn1622=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773978] Chr5:112840460 [GRCh38]
Chr5:112176157 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1347T>C (p.Ala449=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653564] Chr5:112821930 [GRCh38]
Chr5:112157627 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6299A>G (p.Asp2100Gly) single nucleotide variant not specified [RCV002246961] Chr5:112841893 [GRCh38]
Chr5:112177590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-19A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653560] Chr5:112828837 [GRCh38]
Chr5:112164534 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1428A>T (p.Ala476=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534829] Chr5:112827127 [GRCh38]
Chr5:112162824 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5415C>T (p.Phe1805=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773584] Chr5:112841009 [GRCh38]
Chr5:112176706 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7392T>A (p.Ser2464=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773585] Chr5:112842986 [GRCh38]
Chr5:112178683 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7309T>C (p.Leu2437=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773740] Chr5:112842903 [GRCh38]
Chr5:112178600 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2814T>G (p.Thr938=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002177233] Chr5:112838408 [GRCh38]
Chr5:112174105 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8517T>A (p.Leu2839=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774017] Chr5:112844111 [GRCh38]
Chr5:112179808 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2331C>T (p.Asp777=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773561]|Hereditary cancer-predisposing syndrome [RCV002443087] Chr5:112837925 [GRCh38]
Chr5:112173622 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2817G>A (p.Lys939=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653571] Chr5:112838411 [GRCh38]
Chr5:112174108 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4257C>T (p.Ser1419=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774045]|Hereditary cancer-predisposing syndrome [RCV002331828] Chr5:112839851 [GRCh38]
Chr5:112175548 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6048T>C (p.Asp2016=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534820] Chr5:112841642 [GRCh38]
Chr5:112177339 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3960G>C (p.Val1320=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653576] Chr5:112839554 [GRCh38]
Chr5:112175251 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7947T>G (p.Pro2649=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773659] Chr5:112843541 [GRCh38]
Chr5:112179238 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5121T>C (p.Ser1707=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774023]|Hereditary cancer-predisposing syndrome [RCV002337383] Chr5:112840715 [GRCh38]
Chr5:112176412 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+16C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534844] Chr5:112780919 [GRCh38]
Chr5:112116616 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3942G>A (p.Arg1314=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002155391] Chr5:112839536 [GRCh38]
Chr5:112175233 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8079C>T (p.Asn2693=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653559]|Hereditary cancer-predisposing syndrome [RCV002407374] Chr5:112843673 [GRCh38]
Chr5:112179370 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5324C>T (p.Pro1775Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257119] Chr5:112840918 [GRCh38]
Chr5:112176615 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6042T>G (p.Val2014=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653553] Chr5:112841636 [GRCh38]
Chr5:112177333 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7443T>C (p.Thr2481=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002177202]|Hereditary cancer-predisposing syndrome [RCV002382270] Chr5:112843037 [GRCh38]
Chr5:112178734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5520T>C (p.Phe1840=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773586]|Hereditary cancer-predisposing syndrome [RCV002346347] Chr5:112841114 [GRCh38]
Chr5:112176811 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1743+16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002182784] Chr5:112828988 [GRCh38]
Chr5:112164685 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4983A>G (p.Thr1661=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002117646]|Hereditary cancer-predisposing syndrome [RCV002337291] Chr5:112840577 [GRCh38]
Chr5:112176274 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3396A>G (p.Glu1132=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743815]|Hereditary cancer-predisposing syndrome [RCV002454471] Chr5:112838990 [GRCh38]
Chr5:112174687 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-10G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003773907] Chr5:112780780 [GRCh38]
Chr5:112116477 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7752A>G (p.Ala2584=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003107948]|Hereditary cancer-predisposing syndrome [RCV003161415] Chr5:112843346 [GRCh38]
Chr5:112179043 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3156C>G (p.Pro1052=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774016] Chr5:112838750 [GRCh38]
Chr5:112174447 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3615C>T (p.Ser1205=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653556]|Hereditary cancer-predisposing syndrome [RCV003161396] Chr5:112839209 [GRCh38]
Chr5:112174906 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1409-14C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743797] Chr5:112827094 [GRCh38]
Chr5:112162791 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7263A>C (p.Ser2421=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773707] Chr5:112842857 [GRCh38]
Chr5:112178554 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6495A>C (p.Pro2165=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774622]|Hereditary cancer-predisposing syndrome [RCV002352952] Chr5:112842089 [GRCh38]
Chr5:112177786 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3904C>T (p.Leu1302=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743823] Chr5:112839498 [GRCh38]
Chr5:112175195 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.147A>G (p.Lys49=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773592] Chr5:112766337 [GRCh38]
Chr5:112102034 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.249T>G (p.Pro83=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743804] Chr5:112767217 [GRCh38]
Chr5:112102914 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.837T>C (p.Gly279=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774113]|Hereditary cancer-predisposing syndrome [RCV002434593] Chr5:112815497 [GRCh38]
Chr5:112151194 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6036T>C (p.Phe2012=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743829] Chr5:112841630 [GRCh38]
Chr5:112177327 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1313-11T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534848]|Hereditary cancer-predisposing syndrome [RCV002255843] Chr5:112821885 [GRCh38]
Chr5:112157582 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.4418A>G (p.Asn1473Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743834]|Hereditary cancer-predisposing syndrome [RCV002255844] Chr5:112840012 [GRCh38]
Chr5:112175709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4737T>A (p.Ile1579=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774061] Chr5:112840331 [GRCh38]
Chr5:112176028 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7368G>A (p.Leu2456=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003081055] Chr5:112842962 [GRCh38]
Chr5:112178659 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1143C>T (p.Ala381=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002218332]|Hereditary cancer-predisposing syndrome [RCV002337229] Chr5:112819175 [GRCh38]
Chr5:112154872 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6900T>A (p.Ser2300=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743817] Chr5:112842494 [GRCh38]
Chr5:112178191 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5721T>A (p.Ala1907=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773639] Chr5:112841315 [GRCh38]
Chr5:112177012 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6177T>C (p.Asp2059=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534837]|Hereditary cancer-predisposing syndrome [RCV003585219] Chr5:112841771 [GRCh38]
Chr5:112177468 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1584A>C (p.Ala528=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773915]|Hereditary cancer-predisposing syndrome [RCV002400356] Chr5:112827964 [GRCh38]
Chr5:112163661 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+14G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743793] Chr5:112822005 [GRCh38]
Chr5:112157702 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5085A>G (p.Arg1695=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773972] Chr5:112840679 [GRCh38]
Chr5:112176376 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-7_730-6dup duplication Familial adenomatous polyposis 1 [RCV003773734] Chr5:112801271..112801272 [GRCh38]
Chr5:112136968..112136969 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-9A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003773982] Chr5:112828847 [GRCh38]
Chr5:112164544 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1642T>C (p.Leu548=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773948]|Hereditary cancer-predisposing syndrome [RCV003585226] Chr5:112828871 [GRCh38]
Chr5:112164568 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1548+16A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534821] Chr5:112827263 [GRCh38]
Chr5:112162960 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6387G>T (p.Ser2129=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774019]|Hereditary cancer-predisposing syndrome [RCV002363689] Chr5:112841981 [GRCh38]
Chr5:112177678 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7023A>G (p.Lys2341=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743802] Chr5:112842617 [GRCh38]
Chr5:112178314 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5841T>C (p.Thr1947=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773678] Chr5:112841435 [GRCh38]
Chr5:112177132 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4476C>T (p.Ala1492=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653580] Chr5:112840070 [GRCh38]
Chr5:112175767 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4527G>T (p.Leu1509=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743812] Chr5:112840121 [GRCh38]
Chr5:112175818 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.378A>G (p.Gly126=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774004]|Hereditary cancer-predisposing syndrome [RCV002346526] Chr5:112767346 [GRCh38]
Chr5:112103043 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4809A>C (p.Pro1603=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774111] Chr5:112840403 [GRCh38]
Chr5:112176100 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.165T>A (p.Ile55=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774119] Chr5:112766355 [GRCh38]
Chr5:112102052 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-8G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003774120] Chr5:112780782 [GRCh38]
Chr5:112116479 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1185T>C (p.Pro395=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774056] Chr5:112819217 [GRCh38]
Chr5:112154914 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1548+14del deletion Familial adenomatous polyposis 1 [RCV003653572] Chr5:112827260 [GRCh38]
Chr5:112162957 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-7A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003773884] Chr5:112792439 [GRCh38]
Chr5:112128136 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6519A>G (p.Lys2173=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743820]|Hereditary cancer-predisposing syndrome [RCV002363626] Chr5:112842113 [GRCh38]
Chr5:112177810 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2448T>C (p.Thr816=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002157381] Chr5:112838042 [GRCh38]
Chr5:112173739 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.780G>A (p.Gln260=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774126]|Hereditary cancer-predisposing syndrome [RCV002409619] Chr5:112801329 [GRCh38]
Chr5:112137026 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8007T>C (p.Pro2669=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534819]|Hereditary cancer-predisposing syndrome [RCV002423302] Chr5:112843601 [GRCh38]
Chr5:112179298 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2943del (p.Ser982fs) deletion Familial multiple polyposis syndrome [RCV002222983] Chr5:112838535 [GRCh38]
Chr5:112174232 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4161T>C (p.Cys1387=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773969] Chr5:112839755 [GRCh38]
Chr5:112175452 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5094T>C (p.Asp1698=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002175284] Chr5:112840688 [GRCh38]
Chr5:112176385 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7374A>G (p.Glu2458=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002175287]|Hereditary cancer-predisposing syndrome [RCV002382286] Chr5:112842968 [GRCh38]
Chr5:112178665 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7053T>C (p.Pro2351=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534845]|Hereditary cancer-predisposing syndrome [RCV003585230] Chr5:112842647 [GRCh38]
Chr5:112178344 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4200G>T (p.Ser1400=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534843]|Hereditary cancer-predisposing syndrome [RCV002331816] Chr5:112839794 [GRCh38]
Chr5:112175491 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2637G>A (p.Gln879=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773699]|Hereditary cancer-predisposing syndrome [RCV002427571] Chr5:112838231 [GRCh38]
Chr5:112173928 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002175593] Chr5:112822007 [GRCh38]
Chr5:112157704 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3186A>G (p.Gln1062=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653577] Chr5:112838780 [GRCh38]
Chr5:112174477 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5184T>C (p.Ile1728=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743795] Chr5:112840778 [GRCh38]
Chr5:112176475 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1296C>T (p.Asp432=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003107949] Chr5:112819328 [GRCh38]
Chr5:112155025 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.729+17T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534825] Chr5:112792546 [GRCh38]
Chr5:112128243 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707478del deletion Familial adenomatous polyposis 1 [RCV003743801] Chr5:112707478 [GRCh38]
Chr5:112043175 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.6627T>C (p.Ile2209=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773873]|Hereditary cancer-predisposing syndrome [RCV002372983] Chr5:112842221 [GRCh38]
Chr5:112177918 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5985A>G (p.Ser1995=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773691] Chr5:112841579 [GRCh38]
Chr5:112177276 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+10_645+11del deletion Familial adenomatous polyposis 1 [RCV003774002] Chr5:112780913..112780914 [GRCh38]
Chr5:112116610..112116611 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5436G>A (p.Lys1812=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774020] Chr5:112841030 [GRCh38]
Chr5:112176727 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4356A>G (p.Val1452=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002141058]|Hereditary cancer-predisposing syndrome [RCV002331817] Chr5:112839950 [GRCh38]
Chr5:112175647 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5022A>C (p.Gly1674=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002141252] Chr5:112840616 [GRCh38]
Chr5:112176313 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7506T>G (p.Gly2502=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774122] Chr5:112843100 [GRCh38]
Chr5:112178797 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3930G>A (p.Lys1310=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002136181] Chr5:112839524 [GRCh38]
Chr5:112175221 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4422T>C (p.Ala1474=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743803] Chr5:112840016 [GRCh38]
Chr5:112175713 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1959-16C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534817] Chr5:112837537 [GRCh38]
Chr5:112173234 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+18T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534842] Chr5:112819362 [GRCh38]
Chr5:112155059 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3180A>T (p.Ile1060=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743788] Chr5:112838774 [GRCh38]
Chr5:112174471 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+13A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534835] Chr5:112766423 [GRCh38]
Chr5:112102120 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6153A>G (p.Lys2051=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653554] Chr5:112841747 [GRCh38]
Chr5:112177444 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.819T>C (p.Thr273=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003773692]|Hereditary cancer-predisposing syndrome [RCV003289425] Chr5:112801368 [GRCh38]
Chr5:112137065 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1563T>C (p.Ser521=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003025455]|Hereditary cancer-predisposing syndrome [RCV003161525] Chr5:112827943 [GRCh38]
Chr5:112163640 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3747C>T (p.Cys1249=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743798] Chr5:112839341 [GRCh38]
Chr5:112175038 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7711T>C (p.Ser2571Pro) single nucleotide variant not provided [RCV003110116] Chr5:112843305 [GRCh38]
Chr5:112179002 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+19T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003118325] Chr5:112766429 [GRCh38]
Chr5:112102126 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1089T>A (p.Asn363Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003117167] Chr5:112819121 [GRCh38]
Chr5:112154818 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4007G>C (p.Arg1336Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003112178] Chr5:112839601 [GRCh38]
Chr5:112175298 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+14del deletion Familial adenomatous polyposis 1 [RCV003115064]|not specified [RCV003320928] Chr5:112822005 [GRCh38]
Chr5:112157702 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.9:g.(?_112102013)_(112102117_?)del deletion Familial adenomatous polyposis 1 [RCV003119113] Chr5:112102013..112102117 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112136966)_(112137090_?)del deletion Familial adenomatous polyposis 1 [RCV003119114] Chr5:112136966..112137090 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112072721)_(112164689_?)del deletion Familial adenomatous polyposis 1 [RCV003119115] Chr5:112072721..112164689 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112043009)_(112090742_?)del deletion Familial adenomatous polyposis 1 [RCV003119116] Chr5:112043009..112090742 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112162795)_(112164679_?)del deletion Familial adenomatous polyposis 1 [RCV003119117] Chr5:112162795..112164679 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112170638)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV003119118] Chr5:112170638..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112128133)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV003119119] Chr5:112128133..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112043009)_(112111444_?)del deletion Familial adenomatous polyposis 1 [RCV003119121] Chr5:112043009..112111444 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112173240)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV003119122] Chr5:112173240..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112151175)_(112151300_?)dup duplication Familial adenomatous polyposis 1 [RCV003119123] Chr5:112151175..112151300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112111316)_(112170882_?)dup duplication Familial adenomatous polyposis 1 [RCV003119124] Chr5:112111316..112170882 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112111314)_(112116610_?)dup duplication Familial adenomatous polyposis 1 [RCV003119125] Chr5:112111314..112116610 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.9:g.(?_112173240)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV003119126] Chr5:112173240..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112154653)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV003119127] Chr5:112154653..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112115546)_(112179823_?)del deletion Familial adenomatous polyposis 1 [RCV003119128] Chr5:112115546..112179823 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112043009)_(112151300_?)del deletion Familial adenomatous polyposis 1 [RCV003119129] Chr5:112043009..112151300 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.9:g.(?_112090588)_(112137090_?)dup duplication Familial adenomatous polyposis 1 [RCV003119130] Chr5:112090588..112137090 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.9:g.(?_112043009)_(112179823_?)dup duplication Familial adenomatous polyposis 1 [RCV003119131] Chr5:112043009..112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2804A>T (p.Tyr935Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003118939] Chr5:112838398 [GRCh38]
Chr5:112174095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6627_6629del (p.Ser2210del) deletion Familial adenomatous polyposis 1 [RCV002254860] Chr5:112842221..112842223 [GRCh38]
Chr5:112177918..112177920 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5648A>C (p.Lys1883Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255868] Chr5:112841242 [GRCh38]
Chr5:112176939 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8085A>G (p.Lys2695=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257197] Chr5:112843679 [GRCh38]
Chr5:112179376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1980C>G (p.Asn660Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653589]|Hereditary cancer-predisposing syndrome [RCV002257249] Chr5:112837574 [GRCh38]
Chr5:112173271 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2151G>C (p.Met717Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257268] Chr5:112837745 [GRCh38]
Chr5:112173442 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1279C>T (p.His427Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258472] Chr5:112819311 [GRCh38]
Chr5:112155008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6300T>C (p.Asp2100=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774768]|Hereditary cancer-predisposing syndrome [RCV002258500] Chr5:112841894 [GRCh38]
Chr5:112177591 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1743+254T>C single nucleotide variant Squamous cell carcinoma [RCV003129682] Chr5:112829226 [GRCh38]
Chr5:112164923 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.166-29015A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255941] Chr5:112737311 [GRCh38]
Chr5:112073008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.464_465del (p.Lys155fs) deletion Familial adenomatous polyposis 1 [RCV003534986]|not provided [RCV003154538] Chr5:112775667..112775668 [GRCh38]
Chr5:112111364..112111365 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3341G>T (p.Arg1114Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774763]|Hereditary cancer-predisposing syndrome [RCV002255840] Chr5:112838935 [GRCh38]
Chr5:112174632 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2461G>T (p.Val821Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255988] Chr5:112838055 [GRCh38]
Chr5:112173752 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7904del (p.Thr2635fs) deletion Familial adenomatous polyposis 1 [RCV003337392]|Hereditary cancer-predisposing syndrome [RCV002257183] Chr5:112843498 [GRCh38]
Chr5:112179195 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.934-368A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257208] Chr5:112818598 [GRCh38]
Chr5:112154295 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5506G>T (p.Gly1836Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002255867] Chr5:112841100 [GRCh38]
Chr5:112176797 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5869G>A (p.Glu1957Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257123] Chr5:112841463 [GRCh38]
Chr5:112177160 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1537G>A (p.Val513Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743835]|Hereditary cancer-predisposing syndrome [RCV002257138] Chr5:112827236 [GRCh38]
Chr5:112162933 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6889A>G (p.Lys2297Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534849]|Hereditary cancer-predisposing syndrome [RCV002257144] Chr5:112842483 [GRCh38]
Chr5:112178180 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3955C>T (p.Pro1319Ser) single nucleotide variant not provided [RCV003154398] Chr5:112839549 [GRCh38]
Chr5:112175246 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8083A>G (p.Lys2695Glu) single nucleotide variant not provided [RCV003233228] Chr5:112843677 [GRCh38]
Chr5:112179374 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7613G>T (p.Arg2538Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278301] Chr5:112843207 [GRCh38]
Chr5:112178904 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6984A>T (p.Ser2328=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278303] Chr5:112842578 [GRCh38]
Chr5:112178275 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5978C>T (p.Pro1993Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278304] Chr5:112841572 [GRCh38]
Chr5:112177269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7719T>G (p.Ile2573Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278309] Chr5:112843313 [GRCh38]
Chr5:112179010 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6182A>G (p.Glu2061Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278310] Chr5:112841776 [GRCh38]
Chr5:112177473 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2344A>G (p.Lys782Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278311] Chr5:112837938 [GRCh38]
Chr5:112173635 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2722T>A (p.Ser908Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278266] Chr5:112838316 [GRCh38]
Chr5:112174013 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2967T>A (p.Asp989Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278269] Chr5:112838561 [GRCh38]
Chr5:112174258 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2695A>G (p.Thr899Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278274] Chr5:112838289 [GRCh38]
Chr5:112173986 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3773C>A (p.Thr1258Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278276] Chr5:112839367 [GRCh38]
Chr5:112175064 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4907A>T (p.Asp1636Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278277] Chr5:112840501 [GRCh38]
Chr5:112176198 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7690T>G (p.Trp2564Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278281] Chr5:112843284 [GRCh38]
Chr5:112178981 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3458_3459dup (p.Glu1154fs) duplication Hereditary cancer-predisposing syndrome [RCV003278285] Chr5:112839051..112839052 [GRCh38]
Chr5:112174748..112174749 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3379C>A (p.Gln1127Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278289] Chr5:112838973 [GRCh38]
Chr5:112174670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3409G>T (p.Asp1137Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278290] Chr5:112839003 [GRCh38]
Chr5:112174700 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1471G>T (p.Asp491Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278295] Chr5:112827170 [GRCh38]
Chr5:112162867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3013G>T (p.Ala1005Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278296] Chr5:112838607 [GRCh38]
Chr5:112174304 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3367C>A (p.Gln1123Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278297] Chr5:112838961 [GRCh38]
Chr5:112174658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5790A>C (p.Gln1930His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278298] Chr5:112841384 [GRCh38]
Chr5:112177081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6524C>A (p.Thr2175Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278299] Chr5:112842118 [GRCh38]
Chr5:112177815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3709C>G (p.Gln1237Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348989] Chr5:112839303 [GRCh38]
Chr5:112175000 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3717_3726del (p.Arg1239fs) deletion Hereditary cancer-predisposing syndrome [RCV002349045] Chr5:112839309..112839318 [GRCh38]
Chr5:112175006..112175015 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.*43A>T single nucleotide variant not specified [RCV002268813] Chr5:112844169 [GRCh38]
Chr5:112179866 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8016A>G (p.Gly2672=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419236] Chr5:112843610 [GRCh38]
Chr5:112179307 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7418C>G (p.Ser2473Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384952] Chr5:112843012 [GRCh38]
Chr5:112178709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3758C>A (p.Ser1253Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349334] Chr5:112839352 [GRCh38]
Chr5:112175049 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6254G>T (p.Arg2085Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653610]|Hereditary cancer-predisposing syndrome [RCV002366688] Chr5:112841848 [GRCh38]
Chr5:112177545 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q22.2(chr5:112155123-112174165)x1 copy number loss Familial adenomatous polyposis due to 5q22.2 microdeletion [RCV002279742] Chr5:112155123..112174165 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.*414del deletion not provided [RCV002276133] Chr5:112844532 [GRCh38]
Chr5:112180229 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.2836A>G (p.Thr946Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435173] Chr5:112838430 [GRCh38]
Chr5:112174127 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7997T>A (p.Ile2666Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744014]|Hereditary cancer-predisposing syndrome [RCV002419101] Chr5:112843591 [GRCh38]
Chr5:112179288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7999A>T (p.Asn2667Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419106] Chr5:112843593 [GRCh38]
Chr5:112179290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3283_3296dup (p.Pro1101fs) duplication Familial adenomatous polyposis 1 [RCV002288262] Chr5:112838876..112838877 [GRCh38]
Chr5:112174573..112174574 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5024T>G (p.Val1675Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346575]|not provided [RCV002287146] Chr5:112840618 [GRCh38]
Chr5:112176315 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7451_7452insTG (p.Leu2484fs) insertion Familial adenomatous polyposis 1 [RCV002266124] Chr5:112843045..112843046 [GRCh38]
Chr5:112178742..112178743 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.203T>A (p.Leu68Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585239]|not provided [RCV002268796] Chr5:112766393 [GRCh38]
Chr5:112102090 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.675A>G (p.Glu225=) single nucleotide variant not specified [RCV002268801] Chr5:112792475 [GRCh38]
Chr5:112128172 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+47G>T single nucleotide variant not specified [RCV002268802] Chr5:112819391 [GRCh38]
Chr5:112155088 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+50T>A single nucleotide variant not specified [RCV002268803] Chr5:112822041 [GRCh38]
Chr5:112157738 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3841del (p.Ser1281fs) deletion Familial adenomatous polyposis 1 [RCV002290180] Chr5:112839435 [GRCh38]
Chr5:112175132 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2575G>T (p.Gly859Cys) single nucleotide variant not specified [RCV002268805] Chr5:112838169 [GRCh38]
Chr5:112173866 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2843del (p.Ser948fs) deletion Familial adenomatous polyposis 1 [RCV003336750]|Hereditary cancer-predisposing syndrome [RCV002435272] Chr5:112838437 [GRCh38]
Chr5:112174134 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3720_3726del (p.Gly1241fs) deletion Hereditary cancer-predisposing syndrome [RCV002349092] Chr5:112839312..112839318 [GRCh38]
Chr5:112175009..112175015 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2760T>A (p.Asn920Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743842] Chr5:112838354 [GRCh38]
Chr5:112174051 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3715A>C (p.Arg1239=) single nucleotide variant not provided [RCV002293658] Chr5:112839309 [GRCh38]
Chr5:112175006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3625G>T (p.Glu1209Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452331]|not provided [RCV003325602] Chr5:112839219 [GRCh38]
Chr5:112174916 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8005C>G (p.Pro2669Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419191] Chr5:112843599 [GRCh38]
Chr5:112179296 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6245A>T (p.Asp2082Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366630] Chr5:112841839 [GRCh38]
Chr5:112177536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8015G>C (p.Gly2672Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419234] Chr5:112843609 [GRCh38]
Chr5:112179306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7983T>C (p.Ile2661=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419055] Chr5:112843577 [GRCh38]
Chr5:112179274 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3724_3725insTCTACTTCTCAAAAGGCTCAAA (p.Gln1242fs) insertion Hereditary cancer-predisposing syndrome [RCV002349119] Chr5:112839318..112839319 [GRCh38]
Chr5:112175015..112175016 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3417G>T (p.Lys1139Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452204] Chr5:112839011 [GRCh38]
Chr5:112174708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6207T>G (p.Gly2069=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366461] Chr5:112841801 [GRCh38]
Chr5:112177498 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8001_8003del (p.Asn2668del) deletion Familial adenomatous polyposis 1 [RCV003653618]|Hereditary cancer-predisposing syndrome [RCV002419186] Chr5:112843593..112843595 [GRCh38]
Chr5:112179290..112179292 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+743_1408+745delinsACG indel Familial adenomatous polyposis 1 [RCV002266552] Chr5:112822734..112822736 [GRCh38]
Chr5:112158431..112158433 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2554T>C (p.Leu852=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653630]|Hereditary cancer-predisposing syndrome [RCV002434967] Chr5:112838148 [GRCh38]
Chr5:112173845 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-41A>G single nucleotide variant not specified [RCV002268797] Chr5:112767148 [GRCh38]
Chr5:112102845 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6358G>C (p.Ala2120Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743838]|Hereditary cancer-predisposing syndrome [RCV002363737]|not specified [RCV002268810] Chr5:112841952 [GRCh38]
Chr5:112177649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8319T>C (p.Pro2773=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653593]|not specified [RCV002268812] Chr5:112843913 [GRCh38]
Chr5:112179610 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.91A>G (p.Arg31Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743837]|not specified [RCV002268795] Chr5:112707808 [GRCh38]
Chr5:112043505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3024dup (p.His1009fs) duplication Familial adenomatous polyposis 1 [RCV002289492] Chr5:112838617..112838618 [GRCh38]
Chr5:112174314..112174315 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.289G>A (p.Gly97Arg) single nucleotide variant Familial multiple polyposis syndrome [RCV003236592]|not provided [RCV002268798] Chr5:112767257 [GRCh38]
Chr5:112102954 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.645+33G>A single nucleotide variant not specified [RCV002268800] Chr5:112780936 [GRCh38]
Chr5:112116633 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8080A>G (p.Ile2694Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419403] Chr5:112843674 [GRCh38]
Chr5:112179371 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8082T>G (p.Ile2694Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744017]|Hereditary cancer-predisposing syndrome [RCV002419407] Chr5:112843676 [GRCh38]
Chr5:112179373 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5422A>C (p.Asn1808His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349500] Chr5:112841016 [GRCh38]
Chr5:112176713 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3664T>G (p.Ser1222Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452588] Chr5:112839258 [GRCh38]
Chr5:112174955 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1530del (p.Phe510fs) deletion Familial multiple polyposis syndrome [RCV002282808] Chr5:112827226 [GRCh38]
Chr5:112162923 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4350_4378dup (p.Ala1460fs) duplication not provided [RCV002268808] Chr5:112839942..112839943 [GRCh38]
Chr5:112175639..112175640 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5335A>T (p.Ile1779Leu) single nucleotide variant not specified [RCV002268809] Chr5:112840929 [GRCh38]
Chr5:112176626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3875C>G (p.Thr1292Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366273] Chr5:112839469 [GRCh38]
Chr5:112175166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2834G>T (p.Arg945Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435160] Chr5:112838428 [GRCh38]
Chr5:112174125 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.33G>T (p.Lys11Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471334]|Familial adenomatous polyposis 1 [RCV003653598]|Hereditary cancer-predisposing syndrome [RCV002452062] Chr5:112754923 [GRCh38]
Chr5:112090620 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3007G>T (p.Asp1003Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435727] Chr5:112838601 [GRCh38]
Chr5:112174298 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8091A>G (p.Ser2697=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744018]|Hereditary cancer-predisposing syndrome [RCV002419442] Chr5:112843685 [GRCh38]
Chr5:112179382 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1883C>T (p.Thr628Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743844]|Hereditary cancer-predisposing syndrome [RCV003585243] Chr5:112835090 [GRCh38]
Chr5:112170787 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.809A>G (p.Asn270Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419458] Chr5:112801358 [GRCh38]
Chr5:112137055 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4761_4762del (p.Ser1588fs) deletion Familial adenomatous polyposis 1 [RCV002289372] Chr5:112840355..112840356 [GRCh38]
Chr5:112176052..112176053 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.*405dup duplication not provided [RCV002293124] Chr5:112844530..112844531 [GRCh38]
Chr5:112180227..112180228 [GRCh37]
Chr5:5q22.2		 benign|likely benign
NM_000038.6(APC):c.2181G>C (p.Arg727Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774855]|Hereditary cancer-predisposing syndrome [RCV003164392]|not specified [RCV002268804] Chr5:112837775 [GRCh38]
Chr5:112173472 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-29C>T single nucleotide variant not specified [RCV002268799] Chr5:112775600 [GRCh38]
Chr5:112111297 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6514G>T (p.Glu2172Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337393]|not provided [RCV002268811] Chr5:112842108 [GRCh38]
Chr5:112177805 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4954del (p.Ser1652fs) deletion Familial adenomatous polyposis 1 [RCV002292404] Chr5:112840545 [GRCh38]
Chr5:112176242 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2844T>A (p.Ser948=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435289] Chr5:112838438 [GRCh38]
Chr5:112174135 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3414T>C (p.Asp1138=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452183] Chr5:112839008 [GRCh38]
Chr5:112174705 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3723T>G (p.Gly1241=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349118] Chr5:112839317 [GRCh38]
Chr5:112175014 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7983T>G (p.Ile2661Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419056] Chr5:112843577 [GRCh38]
Chr5:112179274 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6175G>T (p.Asp2059Tyr) single nucleotide variant not provided [RCV002292136] Chr5:112841769 [GRCh38]
Chr5:112177466 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3727C>T (p.Pro1243Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349144] Chr5:112839321 [GRCh38]
Chr5:112175018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3617G>A (p.Ser1206Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743941]|Hereditary cancer-predisposing syndrome [RCV002452262] Chr5:112839211 [GRCh38]
Chr5:112174908 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(112103088_112111325)_(112111435_112116486)del deletion Familial multiple polyposis syndrome [RCV002282962] Chr5:112111325..112111435 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7651C>T (p.His2551Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743843] Chr5:112843245 [GRCh38]
Chr5:112178942 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8004T>C (p.Asn2668=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419188] Chr5:112843598 [GRCh38]
Chr5:112179295 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8007T>G (p.Pro2669=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744015]|Hereditary cancer-predisposing syndrome [RCV002419194] Chr5:112843601 [GRCh38]
Chr5:112179298 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6256C>T (p.Pro2086Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366695] Chr5:112841850 [GRCh38]
Chr5:112177547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3399T>C (p.Asp1133=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451975] Chr5:112838993 [GRCh38]
Chr5:112174690 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.625G>T (p.Asp209Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366722] Chr5:112780883 [GRCh38]
Chr5:112116580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7431C>T (p.Ser2477=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653616]|Hereditary cancer-predisposing syndrome [RCV002385027] Chr5:112843025 [GRCh38]
Chr5:112178722 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7432C>G (p.Gln2478Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385033] Chr5:112843026 [GRCh38]
Chr5:112178723 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7434G>A (p.Gln2478=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744006]|Hereditary cancer-predisposing syndrome [RCV002385038] Chr5:112843028 [GRCh38]
Chr5:112178725 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7442C>T (p.Thr2481Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744007]|Hereditary cancer-predisposing syndrome [RCV002385079] Chr5:112843036 [GRCh38]
Chr5:112178733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8072A>G (p.Asn2691Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419376] Chr5:112843666 [GRCh38]
Chr5:112179363 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6645G>A (p.Gln2215=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366819] Chr5:112842239 [GRCh38]
Chr5:112177936 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1256C>T (p.Thr419Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419396] Chr5:112819288 [GRCh38]
Chr5:112154985 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3661C>A (p.Pro1221Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452570] Chr5:112839255 [GRCh38]
Chr5:112174952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2655C>G (p.Ala885=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453090] Chr5:112838249 [GRCh38]
Chr5:112173946 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7105_7120delinsT (p.Pro2369_Ser2374delinsCys) indel Hereditary cancer-predisposing syndrome [RCV002367382] Chr5:112842699..112842714 [GRCh38]
Chr5:112178396..112178411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2868C>T (p.Tyr956=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653632]|Hereditary cancer-predisposing syndrome [RCV002437638] Chr5:112838462 [GRCh38]
Chr5:112174159 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5097G>T (p.Glu1699Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351472] Chr5:112840691 [GRCh38]
Chr5:112176388 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2871G>A (p.Lys957=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437684] Chr5:112838465 [GRCh38]
Chr5:112174162 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6337_6340del (p.Ser2113fs) microsatellite Hereditary cancer-predisposing syndrome [RCV002368910] Chr5:112841927..112841930 [GRCh38]
Chr5:112177624..112177627 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5436G>T (p.Lys1812Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349572] Chr5:112841030 [GRCh38]
Chr5:112176727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2661T>A (p.Ile887=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453130] Chr5:112838255 [GRCh38]
Chr5:112173952 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2044G>A (p.Gly682Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419976] Chr5:112837638 [GRCh38]
Chr5:112173335 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8132T>A (p.Val2711Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421343] Chr5:112843726 [GRCh38]
Chr5:112179423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8133T>C (p.Val2711=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744021]|Hereditary cancer-predisposing syndrome [RCV002421344] Chr5:112843727 [GRCh38]
Chr5:112179424 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8139G>A (p.Met2713Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421348] Chr5:112843733 [GRCh38]
Chr5:112179430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5173G>T (p.Ala1725Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743868] Chr5:112840767 [GRCh38]
Chr5:112176464 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2874A>T (p.Arg958Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437704] Chr5:112838468 [GRCh38]
Chr5:112174165 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3572A>T (p.Gln1191Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455019]|not provided [RCV003156376] Chr5:112839166 [GRCh38]
Chr5:112174863 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6758T>G (p.Leu2253Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369242] Chr5:112842352 [GRCh38]
Chr5:112178049 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2835G>T (p.Arg945Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435168] Chr5:112838429 [GRCh38]
Chr5:112174126 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.810C>A (p.Asn270Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419512] Chr5:112801359 [GRCh38]
Chr5:112137056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5442_5443del (p.Asn1815fs) deletion Hereditary cancer-predisposing syndrome [RCV002349611] Chr5:112841035..112841036 [GRCh38]
Chr5:112176732..112176733 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.712C>G (p.Gln238Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367455] Chr5:112792512 [GRCh38]
Chr5:112128209 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7136C>A (p.Thr2379Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367475] Chr5:112842730 [GRCh38]
Chr5:112178427 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1324G>A (p.Val442Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385759] Chr5:112821907 [GRCh38]
Chr5:112157604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.713A>T (p.Gln238Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367485] Chr5:112792513 [GRCh38]
Chr5:112128210 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7119G>A (p.Met2373Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003154250]|Hereditary cancer-predisposing syndrome [RCV002367425] Chr5:112842713 [GRCh38]
Chr5:112178410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7147G>A (p.Gly2383Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367511] Chr5:112842741 [GRCh38]
Chr5:112178438 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.975T>C (p.His325=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653623]|Hereditary cancer-predisposing syndrome [RCV002387126] Chr5:112819007 [GRCh38]
Chr5:112154704 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6782C>G (p.Pro2261Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776311]|Hereditary cancer-predisposing syndrome [RCV002369370] Chr5:112842376 [GRCh38]
Chr5:112178073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1140G>A (p.Arg380=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452185] Chr5:112819172 [GRCh38]
Chr5:112154869 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5444A>T (p.Asn1815Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349623] Chr5:112841038 [GRCh38]
Chr5:112176735 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8114A>G (p.Asn2705Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744019]|Hereditary cancer-predisposing syndrome [RCV002419541] Chr5:112843708 [GRCh38]
Chr5:112179405 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6672C>A (p.Ile2224=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534877]|Hereditary cancer-predisposing syndrome [RCV002366969]|not provided [RCV003476970] Chr5:112842266 [GRCh38]
Chr5:112177963 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5445T>G (p.Asn1815Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534871]|Hereditary cancer-predisposing syndrome [RCV002349626] Chr5:112841039 [GRCh38]
Chr5:112176736 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8118G>A (p.Val2706=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419548] Chr5:112843712 [GRCh38]
Chr5:112179409 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5448G>T (p.Leu1816Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349632] Chr5:112841042 [GRCh38]
Chr5:112176739 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2693A>T (p.His898Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453203] Chr5:112838287 [GRCh38]
Chr5:112173984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2048C>G (p.Thr683Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420029] Chr5:112837642 [GRCh38]
Chr5:112173339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2665A>G (p.Lys889Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437277] Chr5:112838259 [GRCh38]
Chr5:112173956 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3770A>G (p.Glu1257Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351080] Chr5:112839364 [GRCh38]
Chr5:112175061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2698T>A (p.Ser900Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437376] Chr5:112838292 [GRCh38]
Chr5:112173989 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2901C>T (p.Val967=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002438088] Chr5:112838495 [GRCh38]
Chr5:112174192 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6786T>G (p.Ser2262Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369380] Chr5:112842380 [GRCh38]
Chr5:112178077 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8009G>T (p.Arg2670Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744016]|Hereditary cancer-predisposing syndrome [RCV002419198] Chr5:112843603 [GRCh38]
Chr5:112179300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7409G>T (p.Arg2470Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002384906] Chr5:112843003 [GRCh38]
Chr5:112178700 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3742A>G (p.Thr1248Ala) single nucleotide variant not specified [RCV002268807] Chr5:112839336 [GRCh38]
Chr5:112175033 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2561G>A (p.Arg854Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653631]|Hereditary cancer-predisposing syndrome [RCV002452736] Chr5:112838155 [GRCh38]
Chr5:112173852 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1104A>T (p.Val368=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452740] Chr5:112819136 [GRCh38]
Chr5:112154833 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3019A>T (p.Lys1007Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435850] Chr5:112838613 [GRCh38]
Chr5:112174310 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7151T>G (p.Leu2384Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367547] Chr5:112842745 [GRCh38]
Chr5:112178442 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7155C>T (p.Ser2385=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776358]|Hereditary cancer-predisposing syndrome [RCV002367557] Chr5:112842749 [GRCh38]
Chr5:112178446 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7156A>G (p.Lys2386Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367559] Chr5:112842750 [GRCh38]
Chr5:112178447 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6342T>C (p.Ser2114=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368938] Chr5:112841936 [GRCh38]
Chr5:112177633 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5525C>G (p.Ser1842Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351781] Chr5:112841119 [GRCh38]
Chr5:112176816 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2356C>G (p.Arg786Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743874]|Hereditary cancer-predisposing syndrome [RCV002443301]|not provided [RCV003491078] Chr5:112837950 [GRCh38]
Chr5:112173647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2897G>A (p.Ser966Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775411]|Hereditary cancer-predisposing syndrome [RCV002437989] Chr5:112838491 [GRCh38]
Chr5:112174188 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5399A>C (p.Asn1800Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743909]|Hereditary cancer-predisposing syndrome [RCV002346587] Chr5:112840993 [GRCh38]
Chr5:112176690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8016A>C (p.Gly2672=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419235] Chr5:112843610 [GRCh38]
Chr5:112179307 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8018G>T (p.Arg2673Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419243] Chr5:112843612 [GRCh38]
Chr5:112179309 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2992G>T (p.Gly998Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435515] Chr5:112838586 [GRCh38]
Chr5:112174283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3755C>A (p.Ser1252Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349326]|not provided [RCV003234178] Chr5:112839349 [GRCh38]
Chr5:112175046 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3651T>A (p.Asn1217Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452492] Chr5:112839245 [GRCh38]
Chr5:112174942 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5456A>T (p.Asn1819Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349689] Chr5:112841050 [GRCh38]
Chr5:112176747 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6685A>G (p.Thr2229Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367036] Chr5:112842279 [GRCh38]
Chr5:112177976 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.132T>G (p.Ala44=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385909] Chr5:112707849 [GRCh38]
Chr5:112043546 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6345A>T (p.Leu2115Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368941] Chr5:112841939 [GRCh38]
Chr5:112177636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5536dup (p.Tyr1846fs) duplication Hereditary cancer-predisposing syndrome [RCV002351859] Chr5:112841128..112841129 [GRCh38]
Chr5:112176825..112176826 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7448T>C (p.Val2483Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385089] Chr5:112843042 [GRCh38]
Chr5:112178739 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3665dup (p.Ser1223fs) duplication Hereditary cancer-predisposing syndrome [RCV002452592] Chr5:112839258..112839259 [GRCh38]
Chr5:112174955..112174956 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.954G>A (p.Leu318=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385178] Chr5:112818986 [GRCh38]
Chr5:112154683 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6720C>T (p.Ser2240=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367245] Chr5:112842314 [GRCh38]
Chr5:112178011 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2640C>G (p.Ile880Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002452983] Chr5:112838234 [GRCh38]
Chr5:112173931 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1125C>T (p.Gly375=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653634]|Hereditary cancer-predisposing syndrome [RCV002435919] Chr5:112819157 [GRCh38]
Chr5:112154854 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2591A>G (p.His864Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437100] Chr5:112838185 [GRCh38]
Chr5:112173882 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3367C>G (p.Gln1123Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743936]|Hereditary cancer-predisposing syndrome [RCV002454806] Chr5:112838961 [GRCh38]
Chr5:112174658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1535A>G (p.Asp512Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743873]|Hereditary cancer-predisposing syndrome [RCV002400429] Chr5:112827234 [GRCh38]
Chr5:112162931 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2896A>G (p.Ser966Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437978] Chr5:112838490 [GRCh38]
Chr5:112174187 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.70C>A (p.Arg24=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367345] Chr5:112754960 [GRCh38]
Chr5:112090657 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2652A>T (p.Ala884=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453075] Chr5:112838246 [GRCh38]
Chr5:112173943 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.898G>T (p.Ala300Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743865] Chr5:112815558 [GRCh38]
Chr5:112151255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3764A>G (p.Asn1255Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743946]|Hereditary cancer-predisposing syndrome [RCV002351034] Chr5:112839358 [GRCh38]
Chr5:112175055 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2879C>A (p.Ser960Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437761] Chr5:112838473 [GRCh38]
Chr5:112174170 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8155G>T (p.Glu2719Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421407] Chr5:112843749 [GRCh38]
Chr5:112179446 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6771C>G (p.Ala2257=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369328] Chr5:112842365 [GRCh38]
Chr5:112178062 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5551G>A (p.Gly1851Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351933] Chr5:112841145 [GRCh38]
Chr5:112176842 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6778del (p.Ser2260fs) deletion Familial adenomatous polyposis 1 [RCV003336568]|Familial adenomatous polyposis 1 [RCV003743996]|Hereditary cancer-predisposing syndrome [RCV002369339] Chr5:112842369 [GRCh38]
Chr5:112178066 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1961A>T (p.Gln654Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421751] Chr5:112837555 [GRCh38]
Chr5:112173252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7145C>T (p.Thr2382Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367507] Chr5:112842739 [GRCh38]
Chr5:112178436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2215G>C (p.Asp739His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002420102] Chr5:112837809 [GRCh38]
Chr5:112173506 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2664C>G (p.Ala888=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437273] Chr5:112838258 [GRCh38]
Chr5:112173955 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3002C>T (p.Pro1001Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435683] Chr5:112838596 [GRCh38]
Chr5:112174293 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8082T>C (p.Ile2694=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419406] Chr5:112843676 [GRCh38]
Chr5:112179373 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2622A>G (p.Ser874=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437240] Chr5:112838216 [GRCh38]
Chr5:112173913 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1310C>T (p.Pro437Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002385434] Chr5:112819342 [GRCh38]
Chr5:112155039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.264G>T (p.Arg88=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002453060] Chr5:112767232 [GRCh38]
Chr5:112102929 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.287dup (p.Tyr96Ter) duplication Hereditary cancer-predisposing syndrome [RCV002437781] Chr5:112767254..112767255 [GRCh38]
Chr5:112102951..112102952 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4022G>A (p.Ser1341Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003102253]|Familial adenomatous polyposis 1 [RCV003743869] Chr5:112839616 [GRCh38]
Chr5:112175313 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1019C>T (p.Ser340Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369022] Chr5:112819051 [GRCh38]
Chr5:112154748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3229G>T (p.Val1077Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743870] Chr5:112838823 [GRCh38]
Chr5:112174520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6279C>G (p.Ser2093=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368671] Chr5:112841873 [GRCh38]
Chr5:112177570 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6672C>G (p.Ile2224Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776294]|Hereditary cancer-predisposing syndrome [RCV002366971]|not provided [RCV003476971] Chr5:112842266 [GRCh38]
Chr5:112177963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6337A>G (p.Ser2113Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003097924]|Familial adenomatous polyposis 1 [RCV003743866] Chr5:112841931 [GRCh38]
Chr5:112177628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8169C>G (p.Asn2723Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421454] Chr5:112843763 [GRCh38]
Chr5:112179460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8169C>T (p.Asn2723=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421455] Chr5:112843763 [GRCh38]
Chr5:112179460 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3571C>G (p.Gln1191Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455014] Chr5:112839165 [GRCh38]
Chr5:112174862 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6751C>A (p.Pro2251Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743995]|Hereditary cancer-predisposing syndrome [RCV002369225] Chr5:112842345 [GRCh38]
Chr5:112178042 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003100959]|Familial adenomatous polyposis 1 [RCV003534892]|Hereditary cancer-predisposing syndrome [RCV002421649] Chr5:112835166 [GRCh38]
Chr5:112170863 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1330C>T (p.His444Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387484] Chr5:112821913 [GRCh38]
Chr5:112157610 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4678G>A (p.Glu1560Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743910]|Hereditary cancer-predisposing syndrome [RCV002337438] Chr5:112840272 [GRCh38]
Chr5:112175969 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5004G>C (p.Glu1668Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351378] Chr5:112840598 [GRCh38]
Chr5:112176295 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3299C>A (p.Ser1100Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454661] Chr5:112838893 [GRCh38]
Chr5:112174590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6309T>C (p.Ala2103=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368814] Chr5:112841903 [GRCh38]
Chr5:112177600 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6709C>G (p.Arg2237Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367188] Chr5:112842303 [GRCh38]
Chr5:112178000 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7101A>G (p.Thr2367=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367374] Chr5:112842695 [GRCh38]
Chr5:112178392 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8121T>C (p.Gly2707=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421300] Chr5:112843715 [GRCh38]
Chr5:112179412 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8127C>T (p.Gly2709=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744020]|Hereditary cancer-predisposing syndrome [RCV002421309] Chr5:112843721 [GRCh38]
Chr5:112179418 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3550G>T (p.Ala1184Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002454866] Chr5:112839144 [GRCh38]
Chr5:112174841 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6756C>A (p.Pro2252=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369234] Chr5:112842350 [GRCh38]
Chr5:112178047 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+2T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003336723]|Hereditary cancer-predisposing syndrome [RCV002421650] Chr5:112835167 [GRCh38]
Chr5:112170864 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3566C>A (p.Ser1189Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336534]|Hereditary cancer-predisposing syndrome [RCV002454952] Chr5:112839160 [GRCh38]
Chr5:112174857 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6713A>T (p.Asn2238Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367220] Chr5:112842307 [GRCh38]
Chr5:112178004 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.5(APC):c.1314_1325del12 deletion Familial adenomatous polyposis 1 [RCV003744034]|Hereditary cancer-predisposing syndrome [RCV002385513] Chr5:112821895..112821906 [GRCh38]
Chr5:112157592..112157603 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4921G>T (p.Val1641Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351274] Chr5:112840515 [GRCh38]
Chr5:112176212 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4923G>A (p.Val1641=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351275] Chr5:112840517 [GRCh38]
Chr5:112176214 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4925A>T (p.Tyr1642Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351281] Chr5:112840519 [GRCh38]
Chr5:112176216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2559G>T (p.Glu853Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434978] Chr5:112838153 [GRCh38]
Chr5:112173850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3701G>A (p.Ser1234Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002348935] Chr5:112839295 [GRCh38]
Chr5:112174992 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3878_3890del (p.Thr1293fs) deletion Hereditary cancer-predisposing syndrome [RCV002366282] Chr5:112839470..112839482 [GRCh38]
Chr5:112175167..112175179 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6685A>T (p.Thr2229Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743878]|Hereditary cancer-predisposing syndrome [RCV002363755] Chr5:112842279 [GRCh38]
Chr5:112177976 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5442G>A (p.Gln1814=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002349616] Chr5:112841036 [GRCh38]
Chr5:112176733 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3387G>C (p.Leu1129Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002451872] Chr5:112838981 [GRCh38]
Chr5:112174678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5449A>G (p.Lys1817Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743927]|Hereditary cancer-predisposing syndrome [RCV002346591] Chr5:112841043 [GRCh38]
Chr5:112176740 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5528C>G (p.Pro1843Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351791] Chr5:112841122 [GRCh38]
Chr5:112176819 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2734T>C (p.Leu912=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002437508] Chr5:112838328 [GRCh38]
Chr5:112174025 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6282T>C (p.Pro2094=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002368700] Chr5:112841876 [GRCh38]
Chr5:112177573 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3406_3423dup (p.Thr1141_Asn1142insGluAspAspLysProThr) duplication Hereditary cancer-predisposing syndrome [RCV002452130] Chr5:112838999..112839000 [GRCh38]
Chr5:112174696..112174697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.284C>G (p.Ser95Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002435339] Chr5:112767252 [GRCh38]
Chr5:112102949 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2888_2892del (p.Ser963fs) deletion Familial adenomatous polyposis 1 [RCV003336751]|Familial adenomatous polyposis 1 [RCV003742840]|Hereditary cancer-predisposing syndrome [RCV002437864] Chr5:112838480..112838484 [GRCh38]
Chr5:112174177..112174181 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6695A>C (p.His2232Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002367088] Chr5:112842289 [GRCh38]
Chr5:112177986 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2643C>A (p.Ser881=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742836]|Hereditary cancer-predisposing syndrome [RCV002452999] Chr5:112838237 [GRCh38]
Chr5:112173934 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.498_502del (p.Lys167fs) deletion Familial adenomatous polyposis 1 [RCV003336551]|Hereditary cancer-predisposing syndrome [RCV002351350] Chr5:112775704..112775708 [GRCh38]
Chr5:112111401..112111405 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3398A>T (p.Asp1133Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743900]|Hereditary cancer-predisposing syndrome [RCV002454628] Chr5:112838992 [GRCh38]
Chr5:112174689 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3746dup (p.Cys1249fs) duplication Hereditary cancer-predisposing syndrome [RCV002349263] Chr5:112839339..112839340 [GRCh38]
Chr5:112175036..112175037 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2861T>G (p.Leu954Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742839]|Hereditary cancer-predisposing syndrome [RCV002437596] Chr5:112838455 [GRCh38]
Chr5:112174152 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8040C>G (p.Pro2680=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419303] Chr5:112843634 [GRCh38]
Chr5:112179331 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3567A>C (p.Ser1189=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743940]|Hereditary cancer-predisposing syndrome [RCV002454959] Chr5:112839161 [GRCh38]
Chr5:112174858 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2039C>G (p.Ala680Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002419885] Chr5:112837633 [GRCh38]
Chr5:112173330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8119G>A (p.Gly2707Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653620]|Hereditary cancer-predisposing syndrome [RCV002421271] Chr5:112843713 [GRCh38]
Chr5:112179410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2865dup (p.Tyr956fs) duplication Hereditary cancer-predisposing syndrome [RCV002437620] Chr5:112838457..112838458 [GRCh38]
Chr5:112174154..112174155 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4444C>T (p.Leu1482Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743918]|Hereditary cancer-predisposing syndrome [RCV002332970] Chr5:112840038 [GRCh38]
Chr5:112175735 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6653A>C (p.Gln2218Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002366865] Chr5:112842247 [GRCh38]
Chr5:112177944 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5519T>G (p.Phe1840Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002351751] Chr5:112841113 [GRCh38]
Chr5:112176810 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1015A>T (p.Ser339Cys) single nucleotide variant Lung adenocarcinoma [RCV003129716] Chr5:112819047 [GRCh38]
Chr5:112154744 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+19C>T single nucleotide variant not specified [RCV002466010] Chr5:112801402 [GRCh38]
Chr5:112137099 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2756G>T (p.Arg919Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV002571394]|not specified [RCV002466011] Chr5:112838350 [GRCh38]
Chr5:112174047 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5680G>T (p.Val1894Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347435] Chr5:112841274 [GRCh38]
Chr5:112176971 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4585C>G (p.Gln1529Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003475349]|Familial adenomatous polyposis 1 [RCV003653603]|Hereditary cancer-predisposing syndrome [RCV002342234] Chr5:112840179 [GRCh38]
Chr5:112175876 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5720C>G (p.Ala1907Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347685] Chr5:112841314 [GRCh38]
Chr5:112177011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5722A>C (p.Asn1908His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347689] Chr5:112841316 [GRCh38]
Chr5:112177013 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1826T>C (p.Val609Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410450] Chr5:112835033 [GRCh38]
Chr5:112170730 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5731C>A (p.Gln1911Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743980]|Hereditary cancer-predisposing syndrome [RCV002347732] Chr5:112841325 [GRCh38]
Chr5:112177022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5743A>C (p.Lys1915Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653607]|Hereditary cancer-predisposing syndrome [RCV002347796] Chr5:112841337 [GRCh38]
Chr5:112177034 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4633T>C (p.Ser1545Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342576] Chr5:112840227 [GRCh38]
Chr5:112175924 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.790C>T (p.Gln264Ter) single nucleotide variant APC-related condition [RCV003973390]|Familial adenomatous polyposis 1 [RCV003336573]|Hereditary cancer-predisposing syndrome [RCV002416678] Chr5:112801339 [GRCh38]
Chr5:112137036 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4968T>G (p.Ser1656=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342822] Chr5:112840562 [GRCh38]
Chr5:112176259 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.192A>T (p.Gly64=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410864] Chr5:112766382 [GRCh38]
Chr5:112102079 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7923G>T (p.Lys2641Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416745] Chr5:112843517 [GRCh38]
Chr5:112179214 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7928dup (p.Ile2644fs) duplication Familial adenomatous polyposis 1 [RCV003336574]|Familial adenomatous polyposis 1 [RCV003464487]|Hereditary cancer-predisposing syndrome [RCV002416756] Chr5:112843521..112843522 [GRCh38]
Chr5:112179218..112179219 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7935T>A (p.Tyr2645Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416803] Chr5:112843529 [GRCh38]
Chr5:112179226 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.7939del (p.Met2647fs) deletion Hereditary cancer-predisposing syndrome [RCV002416809] Chr5:112843531 [GRCh38]
Chr5:112179228 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5000A>C (p.Asn1667Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343068] Chr5:112840594 [GRCh38]
Chr5:112176291 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4126dup (p.Tyr1376fs) duplication Hereditary cancer-predisposing syndrome [RCV002333024] Chr5:112839719..112839720 [GRCh38]
Chr5:112175416..112175417 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7955C>A (p.Ser2652Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416871] Chr5:112843549 [GRCh38]
Chr5:112179246 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7964A>G (p.Glu2655Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416908] Chr5:112843558 [GRCh38]
Chr5:112179255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.415_416insC (p.Lys139fs) insertion Hereditary cancer-predisposing syndrome [RCV002333237] Chr5:112767383..112767384 [GRCh38]
Chr5:112103080..112103081 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7828G>C (p.Gly2610Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412102] Chr5:112843422 [GRCh38]
Chr5:112179119 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs) deletion APC-related condition [RCV003408241]|Familial adenomatous polyposis 1 [RCV003336544]|Hereditary cancer-predisposing syndrome [RCV002333521] Chr5:112839967..112839974 [GRCh38]
Chr5:112175664..112175671 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2010del (p.Lys670fs) deletion Familial adenomatous polyposis 1 [RCV003336724]|Familial adenomatous polyposis 1 [RCV003742821]|Hereditary cancer-predisposing syndrome [RCV002417343] Chr5:112837601 [GRCh38]
Chr5:112173298 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.531+35T>C single nucleotide variant not specified [RCV002466009] Chr5:112775772 [GRCh38]
Chr5:112111469 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4375dup (p.Thr1459fs) duplication Hereditary cancer-predisposing syndrome [RCV002333533] Chr5:112839968..112839969 [GRCh38]
Chr5:112175665..112175666 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.783T>C (p.Asn261=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412174] Chr5:112801332 [GRCh38]
Chr5:112137029 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4380T>G (p.Ala1460=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333582] Chr5:112839974 [GRCh38]
Chr5:112175671 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4385A>G (p.Lys1462Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333594] Chr5:112839979 [GRCh38]
Chr5:112175676 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4386G>C (p.Lys1462Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333605] Chr5:112839980 [GRCh38]
Chr5:112175677 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7865C>A (p.Pro2622His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412247] Chr5:112843459 [GRCh38]
Chr5:112179156 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7869A>T (p.Thr2623=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412252] Chr5:112843463 [GRCh38]
Chr5:112179160 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4166C>T (p.Ser1389Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743894] Chr5:112839760 [GRCh38]
Chr5:112175457 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2014C>T (p.His672Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417389] Chr5:112837608 [GRCh38]
Chr5:112173305 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2015A>C (p.His672Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417395] Chr5:112837609 [GRCh38]
Chr5:112173306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1222C>T (p.His408Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742912] Chr5:112819254 [GRCh38]
Chr5:112154951 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2116dup (p.Met706fs) duplication Hereditary cancer-predisposing syndrome [RCV002417556] Chr5:112837709..112837710 [GRCh38]
Chr5:112173406..112173407 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6128T>G (p.Ile2043Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653636]|not provided [RCV002464689] Chr5:112841722 [GRCh38]
Chr5:112177419 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.823G>C (p.Gly275Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412538] Chr5:112801372 [GRCh38]
Chr5:112137069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2161G>T (p.Gly721Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336726]|Hereditary cancer-predisposing syndrome [RCV002417906] Chr5:112837755 [GRCh38]
Chr5:112173452 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.216T>A (p.Leu72=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417939] Chr5:112766406 [GRCh38]
Chr5:112102103 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-195A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002418092] Chr5:112707523 [GRCh38]
Chr5:112043220 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112837231_112890913del deletion Familial adenomatous polyposis 1 [RCV002467433] Chr5:112837231..112890913 [GRCh38]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5603ATG[2] (p.Asp1870_Asp1871del) microsatellite Hereditary cancer-predisposing syndrome [RCV002344938] Chr5:112841195..112841200 [GRCh38]
Chr5:112176892..112176897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5621T>C (p.Leu1874Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345035] Chr5:112841215 [GRCh38]
Chr5:112176912 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4124A>T (p.His1375Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742922] Chr5:112839718 [GRCh38]
Chr5:112175415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5678A>G (p.Lys1893Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003101711]|Familial adenomatous polyposis 1 [RCV003743841] Chr5:112841272 [GRCh38]
Chr5:112176969 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1944A>T (p.Thr648=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413225] Chr5:112835151 [GRCh38]
Chr5:112170848 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6494C>T (p.Pro2165Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356252] Chr5:112842088 [GRCh38]
Chr5:112177785 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3513T>A (p.Arg1171=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459241] Chr5:112839107 [GRCh38]
Chr5:112174804 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1429G>A (p.Glu477Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534889]|Hereditary cancer-predisposing syndrome [RCV002392013] Chr5:112827128 [GRCh38]
Chr5:112162825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.351A>G (p.Ser117=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653599]|Hereditary cancer-predisposing syndrome [RCV002459291] Chr5:112767319 [GRCh38]
Chr5:112103016 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6073A>T (p.Ser2025Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359953] Chr5:112841667 [GRCh38]
Chr5:112177364 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1444G>T (p.Asp482Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743854] Chr5:112827143 [GRCh38]
Chr5:112162840 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6111C>T (p.Asp2037=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360237] Chr5:112841705 [GRCh38]
Chr5:112177402 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1575C>T (p.Cys525=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405703] Chr5:112827955 [GRCh38]
Chr5:112163652 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3532_3535del (p.Asp1178fs) deletion Hereditary cancer-predisposing syndrome [RCV002459421] Chr5:112839123..112839126 [GRCh38]
Chr5:112174820..112174823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3533A>T (p.Asp1178Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743939]|Hereditary cancer-predisposing syndrome [RCV002459424] Chr5:112839127 [GRCh38]
Chr5:112174824 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7185G>T (p.Glu2395Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743858] Chr5:112842779 [GRCh38]
Chr5:112178476 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6125G>A (p.Cys2042Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360296] Chr5:112841719 [GRCh38]
Chr5:112177416 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1672A>C (p.Asn558His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405875] Chr5:112828901 [GRCh38]
Chr5:112164598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.383G>A (p.Arg128Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364062] Chr5:112767351 [GRCh38]
Chr5:112103048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2124G>T (p.Lys708Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417678] Chr5:112837718 [GRCh38]
Chr5:112173415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2125A>T (p.Asn709Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417684] Chr5:112837719 [GRCh38]
Chr5:112173416 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.556del (p.Arg186fs) deletion Familial adenomatous polyposis 1 [RCV003337403]|Hereditary cancer-predisposing syndrome [RCV002352045] Chr5:112780814 [GRCh38]
Chr5:112116511 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1230G>A (p.Leu410=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369457] Chr5:112819262 [GRCh38]
Chr5:112154959 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6808_6819del (p.Ser2270_Gly2273del) deletion Hereditary cancer-predisposing syndrome [RCV002369519] Chr5:112842402..112842413 [GRCh38]
Chr5:112178099..112178110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2059C>A (p.Leu687Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002421924] Chr5:112837653 [GRCh38]
Chr5:112173350 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6906A>T (p.Ser2302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378073] Chr5:112842500 [GRCh38]
Chr5:112178197 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7612A>T (p.Arg2538Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396226] Chr5:112843206 [GRCh38]
Chr5:112178903 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6927T>C (p.Pro2309=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378118] Chr5:112842521 [GRCh38]
Chr5:112178218 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8262T>C (p.Ser2754=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430197] Chr5:112843856 [GRCh38]
Chr5:112179553 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1377T>A (p.Asp459Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002381075] Chr5:112821960 [GRCh38]
Chr5:112157657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1016G>T (p.Ser339Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338210] Chr5:112819048 [GRCh38]
Chr5:112154745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5143G>A (p.Asp1715Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338212] Chr5:112840737 [GRCh38]
Chr5:112176434 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2136_2139del (p.His712fs) microsatellite Hereditary cancer-predisposing syndrome [RCV002417850] Chr5:112837723..112837726 [GRCh38]
Chr5:112173420..112173423 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2469A>G (p.Ser823=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534896]|Hereditary cancer-predisposing syndrome [RCV002455526]|not provided [RCV003477005] Chr5:112838063 [GRCh38]
Chr5:112173760 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1352_1358del (p.Val450_Cys451insTer) deletion Hereditary cancer-predisposing syndrome [RCV002387968] Chr5:112821934..112821940 [GRCh38]
Chr5:112157631..112157637 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3139del (p.Glu1047fs) deletion Hereditary cancer-predisposing syndrome [RCV002320682] Chr5:112838733 [GRCh38]
Chr5:112174430 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1544A>G (p.Asn515Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403223] Chr5:112827243 [GRCh38]
Chr5:112162940 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3153A>T (p.Arg1051Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743895] Chr5:112838747 [GRCh38]
Chr5:112174444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5827A>C (p.Arg1943=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353181] Chr5:112841421 [GRCh38]
Chr5:112177118 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3159A>G (p.Lys1053=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320893] Chr5:112838753 [GRCh38]
Chr5:112174450 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3351T>C (p.Ser1117=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320992] Chr5:112838945 [GRCh38]
Chr5:112174642 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4623G>T (p.Gln1541His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743896] Chr5:112840217 [GRCh38]
Chr5:112175914 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7805A>G (p.Lys2602Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743897] Chr5:112843399 [GRCh38]
Chr5:112179096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3992G>A (p.Arg1331Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743899] Chr5:112839586 [GRCh38]
Chr5:112175283 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5858A>T (p.Asn1953Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653608]|Hereditary cancer-predisposing syndrome [RCV002353367] Chr5:112841452 [GRCh38]
Chr5:112177149 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1393G>A (p.Ala465Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003095079]|Hereditary cancer-predisposing syndrome [RCV002389060] Chr5:112821976 [GRCh38]
Chr5:112157673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7202T>A (p.Leu2401Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370871] Chr5:112842796 [GRCh38]
Chr5:112178493 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5878_5880delinsACA (p.Pro1960Thr) indel Hereditary cancer-predisposing syndrome [RCV002353493] Chr5:112841472..112841474 [GRCh38]
Chr5:112177169..112177171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3453del (p.Glu1151fs) deletion Hereditary cancer-predisposing syndrome [RCV002460214] Chr5:112839046 [GRCh38]
Chr5:112174743 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7554T>G (p.Asn2518Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743932] Chr5:112843148 [GRCh38]
Chr5:112178845 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3231T>G (p.Val1077=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324748] Chr5:112838825 [GRCh38]
Chr5:112174522 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3238G>C (p.Glu1080Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324770] Chr5:112838832 [GRCh38]
Chr5:112174529 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1643T>C (p.Leu548Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403589] Chr5:112828872 [GRCh38]
Chr5:112164569 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2899G>A (p.Val967Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743901] Chr5:112838493 [GRCh38]
Chr5:112174190 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8035_8036delinsGA (p.Thr2679Asp) indel Familial adenomatous polyposis 1 [RCV003743902] Chr5:112843629..112843630 [GRCh38]
Chr5:112179326..112179327 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5887T>A (p.Phe1963Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743981]|Hereditary cancer-predisposing syndrome [RCV002353551] Chr5:112841481 [GRCh38]
Chr5:112177178 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5898T>G (p.Asn1966Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743982]|Hereditary cancer-predisposing syndrome [RCV002353611] Chr5:112841492 [GRCh38]
Chr5:112177189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6169A>G (p.Lys2057Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353689] Chr5:112841763 [GRCh38]
Chr5:112177460 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6172G>A (p.Gly2058Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743875] Chr5:112841766 [GRCh38]
Chr5:112177463 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4044G>A (p.Arg1348=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321229] Chr5:112839638 [GRCh38]
Chr5:112175335 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5999G>C (p.Ser2000Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357914] Chr5:112841593 [GRCh38]
Chr5:112177290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4202T>G (p.Ile1401Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327882] Chr5:112839796 [GRCh38]
Chr5:112175493 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6210C>T (p.Gly2070=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353873] Chr5:112841804 [GRCh38]
Chr5:112177501 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3981dup (p.Gln1328fs) duplication Familial adenomatous polyposis 1 [RCV003336539]|Hereditary cancer-predisposing syndrome [RCV002375547] Chr5:112839574..112839575 [GRCh38]
Chr5:112175271..112175272 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4002C>T (p.Ser1334=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743948]|Hereditary cancer-predisposing syndrome [RCV002375676] Chr5:112839596 [GRCh38]
Chr5:112175293 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7769A>C (p.Lys2590Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743864] Chr5:112843363 [GRCh38]
Chr5:112179060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8453C>G (p.Ser2818Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744025]|Hereditary cancer-predisposing syndrome [RCV002447539] Chr5:112844047 [GRCh38]
Chr5:112179744 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8463C>T (p.Asp2821=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447565] Chr5:112844057 [GRCh38]
Chr5:112179754 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4218G>A (p.Gln1406=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328003] Chr5:112839812 [GRCh38]
Chr5:112175509 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-30_423-15delinsGT indel Familial adenomatous polyposis 1 [RCV003336541]|Hereditary cancer-predisposing syndrome [RCV002328136] Chr5:112775599..112775614 [GRCh38]
Chr5:112111296..112111311 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.2933A>G (p.Gln978Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653633]|Hereditary cancer-predisposing syndrome [RCV002440090] Chr5:112838527 [GRCh38]
Chr5:112174224 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3440dup (p.Tyr1147Ter) duplication Familial adenomatous polyposis 1 [RCV003337395]|Familial adenomatous polyposis 1 [RCV003534858]|Hereditary cancer-predisposing syndrome [RCV002457119] Chr5:112839033..112839034 [GRCh38]
Chr5:112174730..112174731 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3441C>A (p.Tyr1147Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457123] Chr5:112839035 [GRCh38]
Chr5:112174732 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6031T>C (p.Ser2011Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358173] Chr5:112841625 [GRCh38]
Chr5:112177322 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7538C>T (p.Pro2513Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653617]|Hereditary cancer-predisposing syndrome [RCV002393908] Chr5:112843132 [GRCh38]
Chr5:112178829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7542T>A (p.Thr2514=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393950] Chr5:112843136 [GRCh38]
Chr5:112178833 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2487A>G (p.Thr829=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534897]|Hereditary cancer-predisposing syndrome [RCV002430865] Chr5:112838081 [GRCh38]
Chr5:112173778 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003336564]|Hereditary cancer-predisposing syndrome [RCV002361846] Chr5:112780904 [GRCh38]
Chr5:112116601 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1664C>G (p.Ala555Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403877] Chr5:112828893 [GRCh38]
Chr5:112164590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8498G>C (p.Arg2833Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447676] Chr5:112844092 [GRCh38]
Chr5:112179789 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1665A>T (p.Ala555=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403884] Chr5:112828894 [GRCh38]
Chr5:112164591 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.246C>A (p.Phe82Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450593] Chr5:112767214 [GRCh38]
Chr5:112102911 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.767dup (p.Asp256fs) duplication Hereditary cancer-predisposing syndrome [RCV002400482] Chr5:112801315..112801316 [GRCh38]
Chr5:112137012..112137013 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1294G>C (p.Asp432His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743849] Chr5:112819326 [GRCh38]
Chr5:112155023 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6337A>T (p.Ser2113Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354030] Chr5:112841931 [GRCh38]
Chr5:112177628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3451G>A (p.Glu1151Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457212] Chr5:112839045 [GRCh38]
Chr5:112174742 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7697G>T (p.Arg2566Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400545] Chr5:112843291 [GRCh38]
Chr5:112178988 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4491A>T (p.Pro1497=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775905]|Hereditary cancer-predisposing syndrome [RCV002328623] Chr5:112840085 [GRCh38]
Chr5:112175782 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3488G>A (p.Ser1163Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457413] Chr5:112839082 [GRCh38]
Chr5:112174779 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.760_765del (p.Ser254_His255del) deletion Familial adenomatous polyposis 1 [RCV003744010]|Hereditary cancer-predisposing syndrome [RCV002394258] Chr5:112801309..112801314 [GRCh38]
Chr5:112137006..112137011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1441G>C (p.Val481Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394371] Chr5:112827140 [GRCh38]
Chr5:112162837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6862C>G (p.Gln2288Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362157] Chr5:112842456 [GRCh38]
Chr5:112178153 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1794T>C (p.His598=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774503]|Hereditary cancer-predisposing syndrome [RCV002404240] Chr5:112835001 [GRCh38]
Chr5:112170698 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7735G>A (p.Glu2579Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534883]|Hereditary cancer-predisposing syndrome [RCV002400750] Chr5:112843329 [GRCh38]
Chr5:112179026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8345C>G (p.Thr2782Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434684] Chr5:112843939 [GRCh38]
Chr5:112179636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3258_3259del (p.Leu1087fs) deletion Familial multiple polyposis syndrome [RCV002308541]|Hereditary cancer-predisposing syndrome [RCV003164528] Chr5:112838852..112838853 [GRCh38]
Chr5:112174549..112174550 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.996A>T (p.Arg332=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382972] Chr5:112819028 [GRCh38]
Chr5:112154725 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4034A>G (p.Glu1345Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743867]|Hereditary cancer-predisposing syndrome [RCV003340479] Chr5:112839628 [GRCh38]
Chr5:112175325 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4936G>C (p.Gly1646Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743871] Chr5:112840530 [GRCh38]
Chr5:112176227 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.381C>A (p.Ser127Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355306] Chr5:112767349 [GRCh38]
Chr5:112103046 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+2T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003336716]|Familial adenomatous polyposis 1 [RCV003774484]|Hereditary cancer-predisposing syndrome [RCV002401430] Chr5:112828974 [GRCh38]
Chr5:112164671 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1451A>T (p.Glu484Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394614] Chr5:112827150 [GRCh38]
Chr5:112162847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2311G>T (p.Glu771Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428506] Chr5:112837905 [GRCh38]
Chr5:112173602 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6932G>T (p.Arg2311Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534879]|Hereditary cancer-predisposing syndrome [RCV002362398] Chr5:112842526 [GRCh38]
Chr5:112178223 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3099T>G (p.Asp1033Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325885] Chr5:112838693 [GRCh38]
Chr5:112174390 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4512_4513del (p.Ser1505fs) deletion Hereditary cancer-predisposing syndrome [RCV002339926] Chr5:112840106..112840107 [GRCh38]
Chr5:112175803..112175804 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5710C>A (p.Gln1904Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347637] Chr5:112841304 [GRCh38]
Chr5:112177001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1880dup (p.Asn627fs) duplication Familial adenomatous polyposis 1 [RCV003336719]|Familial adenomatous polyposis 1 [RCV003534891]|Hereditary cancer-predisposing syndrome [RCV002415303] Chr5:112835084..112835085 [GRCh38]
Chr5:112170781..112170782 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5727G>T (p.Lys1909Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347708] Chr5:112841321 [GRCh38]
Chr5:112177018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6823A>C (p.Lys2275Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743857] Chr5:112842417 [GRCh38]
Chr5:112178114 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2152A>G (p.Ile718Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743888] Chr5:112837746 [GRCh38]
Chr5:112173443 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7306G>A (p.Val2436Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744004]|Hereditary cancer-predisposing syndrome [RCV002380021] Chr5:112842900 [GRCh38]
Chr5:112178597 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3304del (p.Tyr1102fs) deletion Familial adenomatous polyposis 1 [RCV003336526]|Familial adenomatous polyposis 1 [RCV003464450]|Familial multiple polyposis syndrome [RCV003987996]|Hereditary cancer-predisposing syndrome [RCV002326242] Chr5:112838898 [GRCh38]
Chr5:112174595 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1695A>C (p.Glu565Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743906]|Hereditary cancer-predisposing syndrome [RCV003164516] Chr5:112828924 [GRCh38]
Chr5:112164621 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2183A>C (p.Asn728Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425442] Chr5:112837777 [GRCh38]
Chr5:112173474 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4412C>A (p.Ala1471Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333829] Chr5:112840006 [GRCh38]
Chr5:112175703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7343C>T (p.Pro2448Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380218] Chr5:112842937 [GRCh38]
Chr5:112178634 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1137T>G (p.Ala379=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326377] Chr5:112819169 [GRCh38]
Chr5:112154866 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1588G>C (p.Val530Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744042]|Hereditary cancer-predisposing syndrome [RCV002398370] Chr5:112827968 [GRCh38]
Chr5:112163665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1242C>A (p.Arg414=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380354] Chr5:112819274 [GRCh38]
Chr5:112154971 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7377T>G (p.Ser2459=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380386] Chr5:112842971 [GRCh38]
Chr5:112178668 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1894A>G (p.Ile632Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408074] Chr5:112835101 [GRCh38]
Chr5:112170798 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7931_7933del (p.Ile2644_Tyr2645delinsAsn) deletion Hereditary cancer-predisposing syndrome [RCV002416792] Chr5:112843525..112843527 [GRCh38]
Chr5:112179222..112179224 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7932_7937del (p.Tyr2645_Gln2646del) deletion Hereditary cancer-predisposing syndrome [RCV002416798] Chr5:112843526..112843531 [GRCh38]
Chr5:112179223..112179228 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7971T>C (p.Val2657=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002416925] Chr5:112843565 [GRCh38]
Chr5:112179262 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6902G>A (p.Arg2301Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003102272]|Familial adenomatous polyposis 1 [RCV003743914] Chr5:112842496 [GRCh38]
Chr5:112178193 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3071C>T (p.Pro1024Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743933]|Hereditary cancer-predisposing syndrome [RCV002319777]|not provided [RCV002463198] Chr5:112838665 [GRCh38]
Chr5:112174362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5966A>G (p.Glu1989Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356057] Chr5:112841560 [GRCh38]
Chr5:112177257 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7390T>A (p.Ser2464Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380462] Chr5:112842984 [GRCh38]
Chr5:112178681 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4759del (p.Ser1587fs) deletion Hereditary cancer-predisposing syndrome [RCV002337653] Chr5:112840353 [GRCh38]
Chr5:112176050 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1596A>C (p.Gln532His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398524] Chr5:112827976 [GRCh38]
Chr5:112163673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4884G>C (p.Lys1628Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340498] Chr5:112840478 [GRCh38]
Chr5:112176175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4887T>A (p.His1629Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340515] Chr5:112840481 [GRCh38]
Chr5:112176178 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1997T>G (p.Leu666Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002417015] Chr5:112837591 [GRCh38]
Chr5:112173288 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5123T>C (p.Val1708Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743893] Chr5:112840717 [GRCh38]
Chr5:112176414 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3090A>T (p.Lys1030Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743922] Chr5:112838684 [GRCh38]
Chr5:112174381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8327C>T (p.Thr2776Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743926] Chr5:112843921 [GRCh38]
Chr5:112179618 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2199G>T (p.Arg733Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425640] Chr5:112837793 [GRCh38]
Chr5:112173490 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2978A>G (p.Lys993Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775434]|Hereditary cancer-predisposing syndrome [RCV002442161] Chr5:112838572 [GRCh38]
Chr5:112174269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4086C>A (p.Ser1362=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323152] Chr5:112839680 [GRCh38]
Chr5:112175377 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4090dup (p.Ser1364fs) duplication Familial adenomatous polyposis 1 [RCV003336540]|Hereditary cancer-predisposing syndrome [RCV002323235] Chr5:112839680..112839681 [GRCh38]
Chr5:112175377..112175378 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5801C>A (p.Pro1934His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359892] Chr5:112841395 [GRCh38]
Chr5:112177092 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5803C>T (p.Gln1935Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359903] Chr5:112841397 [GRCh38]
Chr5:112177094 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4778dup (p.Pro1594fs) duplication Familial adenomatous polyposis 1 [RCV003337400]|Hereditary cancer-predisposing syndrome [RCV002337757] Chr5:112840366..112840367 [GRCh38]
Chr5:112176063..112176064 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1185TGA[1] (p.Asp397del) microsatellite Hereditary cancer-predisposing syndrome [RCV002340553] Chr5:112819217..112819219 [GRCh38]
Chr5:112154914..112154916 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5710C>G (p.Gln1904Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347639] Chr5:112841304 [GRCh38]
Chr5:112177001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5717C>G (p.Ser1906Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347664] Chr5:112841311 [GRCh38]
Chr5:112177008 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.187T>G (p.Ser63Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415292] Chr5:112766377 [GRCh38]
Chr5:112102074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5745G>A (p.Lys1915=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776150]|Hereditary cancer-predisposing syndrome [RCV002347807] Chr5:112841339 [GRCh38]
Chr5:112177036 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8267T>C (p.Ile2756Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003097958]|Hereditary cancer-predisposing syndrome [RCV003585247] Chr5:112843861 [GRCh38]
Chr5:112179558 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2188A>C (p.Met730Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425513] Chr5:112837782 [GRCh38]
Chr5:112173479 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4057del (p.Glu1353fs) deletion Hereditary cancer-predisposing syndrome [RCV002321339] Chr5:112839651 [GRCh38]
Chr5:112175348 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4059_4071del (p.Phe1354fs) deletion Hereditary cancer-predisposing syndrome [RCV002321349] Chr5:112839651..112839663 [GRCh38]
Chr5:112175348..112175360 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5787A>G (p.Lys1929=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359734] Chr5:112841381 [GRCh38]
Chr5:112177078 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.267A>T (p.Ser89=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428879] Chr5:112767235 [GRCh38]
Chr5:112102932 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4773A>G (p.Ala1591=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337742] Chr5:112840367 [GRCh38]
Chr5:112176064 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4228T>A (p.Cys1410Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328083] Chr5:112839822 [GRCh38]
Chr5:112175519 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5223C>T (p.Phe1741=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340814] Chr5:112840817 [GRCh38]
Chr5:112176514 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4290C>T (p.Thr1430=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330208] Chr5:112839884 [GRCh38]
Chr5:112175581 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4291A>G (p.Met1431Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775861]|Hereditary cancer-predisposing syndrome [RCV002330218] Chr5:112839885 [GRCh38]
Chr5:112175582 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5259A>G (p.Ala1753=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743976]|Hereditary cancer-predisposing syndrome [RCV002340979] Chr5:112840853 [GRCh38]
Chr5:112176550 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6187C>T (p.His2063Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353794] Chr5:112841781 [GRCh38]
Chr5:112177478 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1972G>A (p.Glu658Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423519] Chr5:112837566 [GRCh38]
Chr5:112173263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1975A>G (p.Asn659Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423564] Chr5:112837569 [GRCh38]
Chr5:112173266 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2212A>T (p.Lys738Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337408]|Hereditary cancer-predisposing syndrome [RCV002425880] Chr5:112837806 [GRCh38]
Chr5:112173503 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1277C>A (p.Ala426Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373914] Chr5:112819309 [GRCh38]
Chr5:112155006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1883C>G (p.Thr628Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743845] Chr5:112835090 [GRCh38]
Chr5:112170787 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8219C>A (p.Pro2740Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744023]|Hereditary cancer-predisposing syndrome [RCV002427976] Chr5:112843813 [GRCh38]
Chr5:112179510 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6621A>C (p.Ser2207=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375891] Chr5:112842215 [GRCh38]
Chr5:112177912 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6720C>G (p.Ser2240=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375926] Chr5:112842314 [GRCh38]
Chr5:112178011 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6134C>A (p.Ser2045Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360352] Chr5:112841728 [GRCh38]
Chr5:112177425 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6143C>G (p.Pro2048Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360390] Chr5:112841737 [GRCh38]
Chr5:112177434 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5111A>C (p.Lys1704Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743972]|Hereditary cancer-predisposing syndrome [RCV002336039] Chr5:112840705 [GRCh38]
Chr5:112176402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4479_4481delinsAGT (p.Glu1494Val) indel Hereditary cancer-predisposing syndrome [RCV002328518] Chr5:112840073..112840075 [GRCh38]
Chr5:112175770..112175772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2967T>C (p.Asp989=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442052] Chr5:112838561 [GRCh38]
Chr5:112174258 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2969A>T (p.Asp990Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442062] Chr5:112838563 [GRCh38]
Chr5:112174260 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5962A>G (p.Lys1988Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356047] Chr5:112841556 [GRCh38]
Chr5:112177253 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3493A>T (p.Lys1165Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459048] Chr5:112839087 [GRCh38]
Chr5:112174784 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2271A>G (p.Gln757=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443894] Chr5:112837865 [GRCh38]
Chr5:112173562 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6005C>G (p.Pro2002Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776197]|Hereditary cancer-predisposing syndrome [RCV002358029] Chr5:112841599 [GRCh38]
Chr5:112177296 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.57G>A (p.Glu19=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359869] Chr5:112754947 [GRCh38]
Chr5:112090644 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5081G>A (p.Gly1694Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335894] Chr5:112840675 [GRCh38]
Chr5:112176372 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6449T>C (p.Leu2150Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361822] Chr5:112842043 [GRCh38]
Chr5:112177740 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3345G>A (p.Val1115=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326633] Chr5:112838939 [GRCh38]
Chr5:112174636 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4240G>A (p.Val1414Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328209] Chr5:112839834 [GRCh38]
Chr5:112175531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4437C>G (p.Val1479=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328241] Chr5:112840031 [GRCh38]
Chr5:112175728 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7039A>C (p.Arg2347=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364942] Chr5:112842633 [GRCh38]
Chr5:112178330 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2930G>C (p.Gly977Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440062] Chr5:112838524 [GRCh38]
Chr5:112174221 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1413A>G (p.Gly471=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389553] Chr5:112827112 [GRCh38]
Chr5:112162809 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2931T>C (p.Gly977=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440082] Chr5:112838525 [GRCh38]
Chr5:112174222 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1486dup (p.Thr496fs) duplication Familial adenomatous polyposis 1 [RCV003336705]|Hereditary cancer-predisposing syndrome [RCV002389591] Chr5:112827184..112827185 [GRCh38]
Chr5:112162881..112162882 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6330C>A (p.Ser2110=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354027] Chr5:112841924 [GRCh38]
Chr5:112177621 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7724C>A (p.Ser2575Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743860] Chr5:112843318 [GRCh38]
Chr5:112179015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4656G>A (p.Glu1552=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335085] Chr5:112840250 [GRCh38]
Chr5:112175947 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6867A>T (p.Thr2289=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378002] Chr5:112842461 [GRCh38]
Chr5:112178158 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4687C>T (p.Leu1563=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743958]|Hereditary cancer-predisposing syndrome [RCV002330538] Chr5:112840281 [GRCh38]
Chr5:112175978 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7240G>T (p.Val2414Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371067] Chr5:112842834 [GRCh38]
Chr5:112178531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7244A>T (p.Glu2415Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653613]|Hereditary cancer-predisposing syndrome [RCV002371076] Chr5:112842838 [GRCh38]
Chr5:112178535 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5972A>C (p.Glu1991Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356097] Chr5:112841566 [GRCh38]
Chr5:112177263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1161C>G (p.Leu387=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375611] Chr5:112819193 [GRCh38]
Chr5:112154890 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2033G>A (p.Ser678Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743879] Chr5:112837627 [GRCh38]
Chr5:112173324 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2699C>T (p.Ser900Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428974] Chr5:112838293 [GRCh38]
Chr5:112173990 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.409C>T (p.Leu137Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323299] Chr5:112767377 [GRCh38]
Chr5:112103074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8484C>A (p.Thr2828=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447644] Chr5:112844078 [GRCh38]
Chr5:112179775 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1474_1487del (p.His492fs) deletion Familial adenomatous polyposis 1 [RCV003337407]|Hereditary cancer-predisposing syndrome [RCV002397000] Chr5:112827171..112827184 [GRCh38]
Chr5:112162868..112162881 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2159T>C (p.Met720Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432559] Chr5:112837753 [GRCh38]
Chr5:112173450 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2160G>T (p.Met720Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432597] Chr5:112837754 [GRCh38]
Chr5:112173451 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4448del (p.Pro1483fs) deletion Hereditary cancer-predisposing syndrome [RCV002328309] Chr5:112840041 [GRCh38]
Chr5:112175738 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7263A>G (p.Ser2421=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382547] Chr5:112842857 [GRCh38]
Chr5:112178554 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4455T>C (p.Ala1485=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328380] Chr5:112840049 [GRCh38]
Chr5:112175746 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4657G>T (p.Ala1553Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534864]|Hereditary cancer-predisposing syndrome [RCV002330470] Chr5:112840251 [GRCh38]
Chr5:112175948 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6377G>T (p.Arg2126Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354054] Chr5:112841971 [GRCh38]
Chr5:112177668 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2944T>C (p.Ser982Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440209] Chr5:112838538 [GRCh38]
Chr5:112174235 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.931_933+2delinsCA indel Familial adenomatous polyposis 1 [RCV003744031]|Hereditary cancer-predisposing syndrome [RCV002371586] Chr5:112815591..112815595 [GRCh38]
Chr5:112151288..112151292 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.948T>A (p.Tyr316Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336581]|Hereditary cancer-predisposing syndrome [RCV002374091] Chr5:112818980 [GRCh38]
Chr5:112154677 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2582G>T (p.Gly861Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003101991]|Hereditary cancer-predisposing syndrome [RCV002426071] Chr5:112838176 [GRCh38]
Chr5:112173873 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5132del (p.Pro1711fs) deletion Hereditary cancer-predisposing syndrome [RCV002338177] Chr5:112840725 [GRCh38]
Chr5:112176422 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8332dup (p.Ala2778fs) duplication Hereditary cancer-predisposing syndrome [RCV002434647] Chr5:112843925..112843926 [GRCh38]
Chr5:112179622..112179623 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4790C>G (p.Thr1597Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330712] Chr5:112840384 [GRCh38]
Chr5:112176081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6164G>T (p.Arg2055Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353675] Chr5:112841758 [GRCh38]
Chr5:112177455 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2916T>C (p.Gly972=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534900]|Hereditary cancer-predisposing syndrome [RCV002439883] Chr5:112838510 [GRCh38]
Chr5:112174207 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5989_5992del (p.Gly1997fs) deletion Familial adenomatous polyposis 1 [RCV003336562]|Hereditary cancer-predisposing syndrome [RCV002356175] Chr5:112841581..112841584 [GRCh38]
Chr5:112177278..112177281 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6480A>G (p.Thr2160=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356211] Chr5:112842074 [GRCh38]
Chr5:112177771 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6035T>A (p.Phe2012Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743985]|Hereditary cancer-predisposing syndrome [RCV002358186] Chr5:112841629 [GRCh38]
Chr5:112177326 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8504C>G (p.Ser2835Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447731] Chr5:112844098 [GRCh38]
Chr5:112179795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7681G>A (p.Val2561Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003099713]|Hereditary cancer-predisposing syndrome [RCV002400495] Chr5:112843275 [GRCh38]
Chr5:112178972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7292G>T (p.Arg2431Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382689] Chr5:112842886 [GRCh38]
Chr5:112178583 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5562C>T (p.Tyr1854=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352008] Chr5:112841156 [GRCh38]
Chr5:112176853 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933G>A (p.Lys311=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744032]|Hereditary cancer-predisposing syndrome [RCV002371670] Chr5:112815593 [GRCh38]
Chr5:112151290 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.3481A>G (p.Asn1161Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775639]|Hereditary cancer-predisposing syndrome [RCV002457373] Chr5:112839075 [GRCh38]
Chr5:112174772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1498dup (p.Tyr500fs) duplication Hereditary cancer-predisposing syndrome [RCV002389841] Chr5:112827196..112827197 [GRCh38]
Chr5:112162893..112162894 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.312A>G (p.Ser104=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320564] Chr5:112767280 [GRCh38]
Chr5:112102977 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.697_698del (p.Gln233fs) deletion Hereditary cancer-predisposing syndrome [RCV002378169] Chr5:112792496..112792497 [GRCh38]
Chr5:112128193..112128194 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6899C>A (p.Ser2300Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743998]|Hereditary cancer-predisposing syndrome [RCV002362294] Chr5:112842493 [GRCh38]
Chr5:112178190 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5145C>A (p.Asp1715Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338218] Chr5:112840739 [GRCh38]
Chr5:112176436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7740C>T (p.Ser2580=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400778] Chr5:112843334 [GRCh38]
Chr5:112179031 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7746A>T (p.Glu2582Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400793] Chr5:112843340 [GRCh38]
Chr5:112179037 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+4A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002389417] Chr5:112821995 [GRCh38]
Chr5:112157692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6191G>T (p.Ser2064Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353829] Chr5:112841785 [GRCh38]
Chr5:112177482 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.882T>C (p.Ser294=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373779] Chr5:112815542 [GRCh38]
Chr5:112151239 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2204C>A (p.Ala735Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425777] Chr5:112837798 [GRCh38]
Chr5:112173495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1162C>T (p.His388Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743950]|Hereditary cancer-predisposing syndrome [RCV002375760] Chr5:112819194 [GRCh38]
Chr5:112154891 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6059G>C (p.Cys2020Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358292] Chr5:112841653 [GRCh38]
Chr5:112177350 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.754del (p.Thr252fs) deletion Familial adenomatous polyposis 1 [RCV003337405]|Hereditary cancer-predisposing syndrome [RCV002393974] Chr5:112801301 [GRCh38]
Chr5:112136998 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1215A>T (p.Arg405=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358329] Chr5:112819247 [GRCh38]
Chr5:112154944 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4871T>G (p.Leu1624Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743917] Chr5:112840465 [GRCh38]
Chr5:112176162 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2281G>A (p.Glu761Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446098] Chr5:112837875 [GRCh38]
Chr5:112173572 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2493A>G (p.Leu831=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430965] Chr5:112838087 [GRCh38]
Chr5:112173784 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.148_149insTT (p.Gln50fs) insertion Hereditary cancer-predisposing syndrome [RCV002397128] Chr5:112766338..112766339 [GRCh38]
Chr5:112102035..112102036 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4818A>C (p.Ala1606=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775970]|Hereditary cancer-predisposing syndrome [RCV002337992] Chr5:112840412 [GRCh38]
Chr5:112176109 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4481A>T (p.Glu1494Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328567] Chr5:112840075 [GRCh38]
Chr5:112175772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.448A>C (p.Lys150Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328591] Chr5:112775654 [GRCh38]
Chr5:112111351 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6819A>G (p.Gly2273=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369564] Chr5:112842413 [GRCh38]
Chr5:112178110 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2448dup (p.Gly817fs) duplication Familial adenomatous polyposis 1 [RCV003337410]|Hereditary cancer-predisposing syndrome [RCV002455414] Chr5:112838041..112838042 [GRCh38]
Chr5:112173738..112173739 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1502C>A (p.Ala501Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744038]|Hereditary cancer-predisposing syndrome [RCV002389955] Chr5:112827201 [GRCh38]
Chr5:112162898 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2293G>C (p.Asp765His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534893]|Hereditary cancer-predisposing syndrome [RCV002457498] Chr5:112837887 [GRCh38]
Chr5:112173584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2094_2095dup (p.Trp699fs) duplication Hereditary cancer-predisposing syndrome [RCV002424078] Chr5:112837686..112837687 [GRCh38]
Chr5:112173383..112173384 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2398G>T (p.Val800Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459630] Chr5:112837992 [GRCh38]
Chr5:112173689 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4144C>A (p.Leu1382Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743847] Chr5:112839738 [GRCh38]
Chr5:112175435 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003336715]|Familial adenomatous polyposis 1 [RCV003744047]|Hereditary cancer-predisposing syndrome [RCV002401429] Chr5:112828973 [GRCh38]
Chr5:112164670 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1744-22C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401445] Chr5:112834929 [GRCh38]
Chr5:112170626 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6026C>T (p.Pro2009Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743886] Chr5:112841620 [GRCh38]
Chr5:112177317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8295C>T (p.Ser2765=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430290] Chr5:112843889 [GRCh38]
Chr5:112179586 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3908A>T (p.Gln1303Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743861] Chr5:112839502 [GRCh38]
Chr5:112175199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4718A>C (p.Glu1573Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335374] Chr5:112840312 [GRCh38]
Chr5:112176009 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-1_1599dup duplication Hereditary cancer-predisposing syndrome [RCV002403307] Chr5:112827926..112827927 [GRCh38]
Chr5:112163623..112163624 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2724T>C (p.Ser908=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431320] Chr5:112838318 [GRCh38]
Chr5:112174015 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5152_5155dup (p.Glu1719fs) duplication Hereditary cancer-predisposing syndrome [RCV002338269] Chr5:112840745..112840746 [GRCh38]
Chr5:112176442..112176443 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8361C>A (p.Asn2787Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434753] Chr5:112843955 [GRCh38]
Chr5:112179652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.923T>C (p.Leu308Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534887]|Hereditary cancer-predisposing syndrome [RCV002371353] Chr5:112815583 [GRCh38]
Chr5:112151280 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8202A>G (p.Lys2734=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427943] Chr5:112843796 [GRCh38]
Chr5:112179493 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6628del (p.Ser2210fs) deletion Hereditary cancer-predisposing syndrome [RCV002375900] Chr5:112842220 [GRCh38]
Chr5:112177917 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2287G>C (p.Glu763Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002446181] Chr5:112837881 [GRCh38]
Chr5:112173578 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5299G>T (p.Gly1767Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743921] Chr5:112840893 [GRCh38]
Chr5:112176590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7713T>C (p.Ser2571=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400656] Chr5:112843307 [GRCh38]
Chr5:112179004 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1717A>G (p.Met573Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743840]|Hereditary cancer-predisposing syndrome [RCV002400421] Chr5:112828946 [GRCh38]
Chr5:112164643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8443A>C (p.Lys2815Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743903]|Hereditary cancer-predisposing syndrome [RCV002443307] Chr5:112844037 [GRCh38]
Chr5:112179734 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3184_3200dup (p.Gln1067fs) duplication Familial adenomatous polyposis 1 [RCV003336522]|Hereditary cancer-predisposing syndrome [RCV002322772] Chr5:112838776..112838777 [GRCh38]
Chr5:112174473..112174474 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7663T>G (p.Ser2555Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744012]|Hereditary cancer-predisposing syndrome [RCV002396461] Chr5:112843257 [GRCh38]
Chr5:112178954 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1550C>G (p.Ala517Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403366] Chr5:112827930 [GRCh38]
Chr5:112163627 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.251G>A (p.Gly84Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433035] Chr5:112767219 [GRCh38]
Chr5:112102916 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4840G>C (p.Val1614Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330784] Chr5:112840434 [GRCh38]
Chr5:112176131 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4871del (p.Leu1624fs) deletion Hereditary cancer-predisposing syndrome [RCV002330809] Chr5:112840464 [GRCh38]
Chr5:112176161 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.343A>T (p.Met115Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457096] Chr5:112767311 [GRCh38]
Chr5:112103008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2932C>T (p.Gln978Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336753]|Hereditary cancer-predisposing syndrome [RCV002440084] Chr5:112838526 [GRCh38]
Chr5:112174223 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2216A>C (p.Asp739Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742825]|Hereditary cancer-predisposing syndrome [RCV002425928] Chr5:112837810 [GRCh38]
Chr5:112173507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.885T>C (p.Ser295=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375959] Chr5:112815545 [GRCh38]
Chr5:112151242 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1817T>G (p.Ile606Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743859] Chr5:112835024 [GRCh38]
Chr5:112170721 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.685C>G (p.Leu229Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362142] Chr5:112792485 [GRCh38]
Chr5:112128182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3836C>A (p.Ser1279Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364039] Chr5:112839430 [GRCh38]
Chr5:112175127 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1718T>C (p.Met573Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399000] Chr5:112828947 [GRCh38]
Chr5:112164644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1266G>A (p.Glu422=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002449687] Chr5:112819298 [GRCh38]
Chr5:112154995 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.771T>A (p.Ala257=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400686] Chr5:112801320 [GRCh38]
Chr5:112137017 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4502C>T (p.Ser1501Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328709] Chr5:112840096 [GRCh38]
Chr5:112175793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5848A>G (p.Lys1950Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353312] Chr5:112841442 [GRCh38]
Chr5:112177139 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.381_384delinsAAAG (p.Ser127_Arg128delinsArgLys) indel Hereditary cancer-predisposing syndrome [RCV002355240] Chr5:112767349..112767352 [GRCh38]
Chr5:112103046..112103049 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1095del (p.Asp366fs) deletion APC-related condition [RCV003403828]|Familial adenomatous polyposis 1 [RCV003336735]|Hereditary cancer-predisposing syndrome [RCV002457882] Chr5:112819125 [GRCh38]
Chr5:112154822 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3823_3825del (p.Ser1276del) deletion Familial adenomatous polyposis 1 [RCV003534859]|Hereditary cancer-predisposing syndrome [RCV002355346] Chr5:112839415..112839417 [GRCh38]
Chr5:112175112..112175114 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3156C>T (p.Pro1052=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320867] Chr5:112838750 [GRCh38]
Chr5:112174447 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3197dup (p.Gln1067fs) duplication Familial adenomatous polyposis 1 [RCV003336524]|Hereditary cancer-predisposing syndrome [RCV002443333] Chr5:112838790..112838791 [GRCh38]
Chr5:112174487..112174488 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4019C>A (p.Ser1340Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359461] Chr5:112839613 [GRCh38]
Chr5:112175310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4026A>G (p.Leu1342=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359514] Chr5:112839620 [GRCh38]
Chr5:112175317 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1797C>T (p.Cys599=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407810] Chr5:112835004 [GRCh38]
Chr5:112170701 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4548A>T (p.Ile1516=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340136] Chr5:112840142 [GRCh38]
Chr5:112175839 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7761G>A (p.Glu2587=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409725] Chr5:112843355 [GRCh38]
Chr5:112179052 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7781C>A (p.Ser2594Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409826] Chr5:112843375 [GRCh38]
Chr5:112179072 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6317A>G (p.Glu2106Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353984] Chr5:112841911 [GRCh38]
Chr5:112177608 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.927A>T (p.Gly309=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002371446] Chr5:112815587 [GRCh38]
Chr5:112151284 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2387A>T (p.Tyr796Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459522] Chr5:112837981 [GRCh38]
Chr5:112173678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.222G>A (p.Glu74=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428229] Chr5:112767190 [GRCh38]
Chr5:112102887 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4669A>C (p.Ile1557Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335136] Chr5:112840263 [GRCh38]
Chr5:112175960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2385C>A (p.Leu795=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457933] Chr5:112837979 [GRCh38]
Chr5:112173676 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3828A>G (p.Ser1276=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534860]|Hereditary cancer-predisposing syndrome [RCV002355371] Chr5:112839422 [GRCh38]
Chr5:112175119 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.383_384insTTC (p.Arg128delinsSerSer) insertion Hereditary cancer-predisposing syndrome [RCV002355399] Chr5:112767351..112767352 [GRCh38]
Chr5:112103048..112103049 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3856G>T (p.Glu1286Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337397]|Hereditary cancer-predisposing syndrome [RCV002355514] Chr5:112839450 [GRCh38]
Chr5:112175147 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4027T>C (p.Ser1343Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359522] Chr5:112839621 [GRCh38]
Chr5:112175318 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1133A>C (p.Glu378Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445431] Chr5:112819165 [GRCh38]
Chr5:112154862 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1388G>T (p.Arg463Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396594] Chr5:112821971 [GRCh38]
Chr5:112157668 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2351C>G (p.Ser784Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742830]|Hereditary cancer-predisposing syndrome [RCV002448415] Chr5:112837945 [GRCh38]
Chr5:112173642 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3291A>T (p.Glu1097Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326158] Chr5:112838885 [GRCh38]
Chr5:112174582 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7326T>G (p.Thr2442=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744005]|Hereditary cancer-predisposing syndrome [RCV002380132] Chr5:112842920 [GRCh38]
Chr5:112178617 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3304T>A (p.Tyr1102Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326247] Chr5:112838898 [GRCh38]
Chr5:112174595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2532T>G (p.Ser844=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433182] Chr5:112838126 [GRCh38]
Chr5:112173823 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+4C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534890]|Hereditary cancer-predisposing syndrome [RCV002401147] Chr5:112828010 [GRCh38]
Chr5:112163707 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1355T>C (p.Val452Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383353] Chr5:112821938 [GRCh38]
Chr5:112157635 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4561G>A (p.Glu1521Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340206] Chr5:112840155 [GRCh38]
Chr5:112175852 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.774G>A (p.Glu258=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409674] Chr5:112801323 [GRCh38]
Chr5:112137020 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7783A>G (p.Ile2595Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409830] Chr5:112843377 [GRCh38]
Chr5:112179074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3168A>G (p.Ile1056Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322585] Chr5:112838762 [GRCh38]
Chr5:112174459 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2240C>A (p.Ser747Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336730]|Hereditary cancer-predisposing syndrome [RCV002428366] Chr5:112837834 [GRCh38]
Chr5:112173531 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6957A>T (p.Arg2319Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378152] Chr5:112842551 [GRCh38]
Chr5:112178248 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7631C>T (p.Ser2544Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396325] Chr5:112843225 [GRCh38]
Chr5:112178922 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.469T>C (p.Trp157Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335289] Chr5:112775675 [GRCh38]
Chr5:112111372 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6976C>G (p.Arg2326Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378177] Chr5:112842570 [GRCh38]
Chr5:112178267 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2723C>A (p.Ser908Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431311] Chr5:112838317 [GRCh38]
Chr5:112174014 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6902G>C (p.Arg2301Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362325] Chr5:112842496 [GRCh38]
Chr5:112178193 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8366G>T (p.Ser2789Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434756] Chr5:112843960 [GRCh38]
Chr5:112179657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8369C>G (p.Pro2790Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434762] Chr5:112843963 [GRCh38]
Chr5:112179660 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1970G>A (p.Arg657Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002423489] Chr5:112837564 [GRCh38]
Chr5:112173261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3925_3926del (p.Glu1309fs) deletion Hereditary cancer-predisposing syndrome [RCV002373194] Chr5:112839518..112839519 [GRCh38]
Chr5:112175215..112175216 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3360A>T (p.Gly1120=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321078] Chr5:112838954 [GRCh38]
Chr5:112174651 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4402A>C (p.Lys1468Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333761] Chr5:112839996 [GRCh38]
Chr5:112175693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4037C>T (p.Ser1346Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775801]|Hereditary cancer-predisposing syndrome [RCV002359579] Chr5:112839631 [GRCh38]
Chr5:112175328 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1014T>A (p.Ser338=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333770] Chr5:112819046 [GRCh38]
Chr5:112154743 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.906A>C (p.Arg302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378534] Chr5:112815566 [GRCh38]
Chr5:112151263 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3246T>C (p.Thr1082=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324829] Chr5:112838840 [GRCh38]
Chr5:112174537 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7346G>A (p.Ser2449Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380224] Chr5:112842940 [GRCh38]
Chr5:112178637 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7358G>A (p.Arg2453Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380275] Chr5:112842952 [GRCh38]
Chr5:112178649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3464_3468del (p.Glu1155fs) deletion Hereditary cancer-predisposing syndrome [RCV002337483] Chr5:112839058..112839062 [GRCh38]
Chr5:112174755..112174759 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1047G>A (p.Gln349=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002398331] Chr5:112819079 [GRCh38]
Chr5:112154776 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4190A>G (p.Glu1397Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327780] Chr5:112839784 [GRCh38]
Chr5:112175481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4198T>G (p.Ser1400Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327812] Chr5:112839792 [GRCh38]
Chr5:112175489 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4568del (p.Arg1523fs) deletion Hereditary cancer-predisposing syndrome [RCV002340230] Chr5:112840162 [GRCh38]
Chr5:112175859 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.678G>A (p.Lys226=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369403] Chr5:112792478 [GRCh38]
Chr5:112128175 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.358AGA[1] (p.Arg121del) microsatellite Hereditary cancer-predisposing syndrome [RCV002455338] Chr5:112767325..112767327 [GRCh38]
Chr5:112103022..112103024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1344T>G (p.Pro448=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387789] Chr5:112821927 [GRCh38]
Chr5:112157624 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3220A>T (p.Thr1074Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743912] Chr5:112838814 [GRCh38]
Chr5:112174511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-4A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534888]|Hereditary cancer-predisposing syndrome [RCV002371682] Chr5:112818962 [GRCh38]
Chr5:112154659 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3132A>G (p.Ser1044=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320612] Chr5:112838726 [GRCh38]
Chr5:112174423 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3172G>T (p.Asp1058Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322657] Chr5:112838766 [GRCh38]
Chr5:112174463 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8C>T (p.Ala3Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376345] Chr5:112754898 [GRCh38]
Chr5:112090595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743G>T (p.Lys581Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401443] Chr5:112828972 [GRCh38]
Chr5:112164669 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1248C>A (p.Tyr416Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003103423]|Familial adenomatous polyposis 1 [RCV003534882]|Hereditary cancer-predisposing syndrome [RCV002396359] Chr5:112819280 [GRCh38]
Chr5:112154977 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7641G>C (p.Trp2547Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396364] Chr5:112843235 [GRCh38]
Chr5:112178932 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8292T>C (p.Ser2764=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653621]|Hereditary cancer-predisposing syndrome [RCV002430286] Chr5:112843886 [GRCh38]
Chr5:112179583 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4714A>G (p.Ile1572Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534865]|Hereditary cancer-predisposing syndrome [RCV002335356] Chr5:112840308 [GRCh38]
Chr5:112176005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.829G>C (p.Gly277Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430316] Chr5:112801378 [GRCh38]
Chr5:112137075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7650G>A (p.Glu2550=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396403] Chr5:112843244 [GRCh38]
Chr5:112178941 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5160A>T (p.Glu1720Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338315] Chr5:112840754 [GRCh38]
Chr5:112176451 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6522T>G (p.Ser2174Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364253] Chr5:112842116 [GRCh38]
Chr5:112177813 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1285C>G (p.Pro429Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383093] Chr5:112819317 [GRCh38]
Chr5:112155014 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3940A>C (p.Arg1314=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373285] Chr5:112839534 [GRCh38]
Chr5:112175231 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5909G>A (p.Ser1970Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776182]|Hereditary cancer-predisposing syndrome [RCV002355736] Chr5:112841503 [GRCh38]
Chr5:112177200 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7477C>A (p.Leu2493Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391481] Chr5:112843071 [GRCh38]
Chr5:112178768 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3969T>C (p.Val1323=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321123] Chr5:112839563 [GRCh38]
Chr5:112175260 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3460G>T (p.Glu1154Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336532]|Hereditary cancer-predisposing syndrome [RCV002460223] Chr5:112839054 [GRCh38]
Chr5:112174751 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4411G>A (p.Ala1471Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534862]|Hereditary cancer-predisposing syndrome [RCV002333826] Chr5:112840005 [GRCh38]
Chr5:112175702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3321C>A (p.Ala1107=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326383] Chr5:112838915 [GRCh38]
Chr5:112174612 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3326G>A (p.Gly1109Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326426] Chr5:112838920 [GRCh38]
Chr5:112174617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4861C>G (p.Gln1621Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775981]|Hereditary cancer-predisposing syndrome [RCV002340359] Chr5:112840455 [GRCh38]
Chr5:112176152 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4861C>T (p.Gln1621Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340360] Chr5:112840455 [GRCh38]
Chr5:112176152 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.135+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387928] Chr5:112755026 [GRCh38]
Chr5:112090723 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4213G>T (p.Val1405Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743925]|Hereditary cancer-predisposing syndrome [RCV002332973] Chr5:112839807 [GRCh38]
Chr5:112175504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7460C>A (p.Ser2487Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743905] Chr5:112843054 [GRCh38]
Chr5:112178751 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2089_2093delinsAATGCTGGTCCCATAATG (p.Ala697fs) indel Hereditary cancer-predisposing syndrome [RCV002423992] Chr5:112837683..112837687 [GRCh38]
Chr5:112173380..112173384 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2296G>A (p.Ala766Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742827]|Hereditary cancer-predisposing syndrome [RCV002457513] Chr5:112837890 [GRCh38]
Chr5:112173587 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.240T>C (p.Ser80=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459728] Chr5:112767208 [GRCh38]
Chr5:112102905 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7049_7055delinsT (p.Ser2350_Ser2352delinsPhe) indel Familial adenomatous polyposis 1 [RCV003776340]|Hereditary cancer-predisposing syndrome [RCV002378296] Chr5:112842643..112842649 [GRCh38]
Chr5:112178340..112178346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7662T>C (p.His2554=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396459] Chr5:112843256 [GRCh38]
Chr5:112178953 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6956G>T (p.Arg2319Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362461] Chr5:112842550 [GRCh38]
Chr5:112178247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6962T>C (p.Ile2321Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362492] Chr5:112842556 [GRCh38]
Chr5:112178253 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6527T>C (p.Leu2176Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364262] Chr5:112842121 [GRCh38]
Chr5:112177818 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6377G>A (p.Arg2126Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534876]|Hereditary cancer-predisposing syndrome [RCV002354052] Chr5:112841971 [GRCh38]
Chr5:112177668 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6399T>C (p.Asp2133=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002354111] Chr5:112841993 [GRCh38]
Chr5:112177690 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.295_296insTTCC (p.Arg99fs) insertion Hereditary cancer-predisposing syndrome [RCV002441866] Chr5:112767261..112767262 [GRCh38]
Chr5:112102958..112102959 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4046A>C (p.His1349Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321238] Chr5:112839640 [GRCh38]
Chr5:112175337 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.404A>G (p.Glu135Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743951]|Hereditary cancer-predisposing syndrome [RCV002321260] Chr5:112767372 [GRCh38]
Chr5:112103069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6411C>A (p.Ser2137=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361635] Chr5:112842005 [GRCh38]
Chr5:112177702 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3251A>G (p.Asp1084Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002324894] Chr5:112838845 [GRCh38]
Chr5:112174542 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6417A>C (p.Lys2139Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003098238]|Hereditary cancer-predisposing syndrome [RCV002361653] Chr5:112842011 [GRCh38]
Chr5:112177708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4203T>A (p.Ile1401=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327888] Chr5:112839797 [GRCh38]
Chr5:112175494 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5569T>C (p.Ser1857Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352032] Chr5:112841163 [GRCh38]
Chr5:112176860 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3883_3886del (p.Glu1295fs) deletion Familial adenomatous polyposis 1 [RCV003336537]|Hereditary cancer-predisposing syndrome [RCV002357363] Chr5:112839475..112839478 [GRCh38]
Chr5:112175172..112175175 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4019C>T (p.Ser1340Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359463] Chr5:112839613 [GRCh38]
Chr5:112175310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4393A>T (p.Ser1465Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333660] Chr5:112839987 [GRCh38]
Chr5:112175684 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4737del (p.Ile1580fs) deletion Familial adenomatous polyposis 1 [RCV003653604]|Hereditary cancer-predisposing syndrome [RCV002335498] Chr5:112840330 [GRCh38]
Chr5:112176027 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4738_4741del (p.Ile1580fs) deletion Hereditary cancer-predisposing syndrome [RCV002335502] Chr5:112840330..112840333 [GRCh38]
Chr5:112176027..112176030 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7320G>A (p.Gln2440=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380116] Chr5:112842914 [GRCh38]
Chr5:112178611 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2355T>C (p.His785=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002448469] Chr5:112837949 [GRCh38]
Chr5:112173646 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6541A>T (p.Ile2181Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364329] Chr5:112842135 [GRCh38]
Chr5:112177832 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7500G>C (p.Gln2500His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534881]|Hereditary cancer-predisposing syndrome [RCV002391623] Chr5:112843094 [GRCh38]
Chr5:112178791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.295C>G (p.Arg99Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441963] Chr5:112767263 [GRCh38]
Chr5:112102960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2963A>T (p.Glu988Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442001] Chr5:112838557 [GRCh38]
Chr5:112174254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5954A>T (p.Glu1985Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356000] Chr5:112841548 [GRCh38]
Chr5:112177245 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5783A>G (p.Gln1928Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359724] Chr5:112841377 [GRCh38]
Chr5:112177074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1441G>T (p.Val481Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743913] Chr5:112827140 [GRCh38]
Chr5:112162837 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3256C>T (p.His1086Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743934]|Hereditary cancer-predisposing syndrome [RCV002445638] Chr5:112838850 [GRCh38]
Chr5:112174547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1773C>T (p.Ala591=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401855] Chr5:112834980 [GRCh38]
Chr5:112170677 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3261C>G (p.Leu1087=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445654] Chr5:112838855 [GRCh38]
Chr5:112174552 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4083C>G (p.Pro1361=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323137] Chr5:112839677 [GRCh38]
Chr5:112175374 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8449G>C (p.Asp2817His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447525] Chr5:112844043 [GRCh38]
Chr5:112179740 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2468C>G (p.Ser823Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336738]|Hereditary cancer-predisposing syndrome [RCV002430763] Chr5:112838062 [GRCh38]
Chr5:112173759 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6432G>T (p.Leu2144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361747] Chr5:112842026 [GRCh38]
Chr5:112177723 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4213G>C (p.Val1405Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003120918]|Hereditary cancer-predisposing syndrome [RCV002327979] Chr5:112839807 [GRCh38]
Chr5:112175504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.424T>G (p.Ser142Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329860] Chr5:112775630 [GRCh38]
Chr5:112111327 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1905A>C (p.Gly635=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002408319] Chr5:112835112 [GRCh38]
Chr5:112170809 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.425C>A (p.Ser142Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337399]|Hereditary cancer-predisposing syndrome [RCV002329923] Chr5:112775631 [GRCh38]
Chr5:112111328 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6825G>T (p.Lys2275Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369628] Chr5:112842419 [GRCh38]
Chr5:112178116 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2074C>G (p.Pro692Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742822]|Hereditary cancer-predisposing syndrome [RCV002422188]|not specified [RCV003317605] Chr5:112837668 [GRCh38]
Chr5:112173365 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2507_2510del (p.Ser835_Ser836insTer) deletion Hereditary cancer-predisposing syndrome [RCV002455645] Chr5:112838101..112838104 [GRCh38]
Chr5:112173798..112173801 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2782G>T (p.Ala928Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441329] Chr5:112838376 [GRCh38]
Chr5:112174073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.381C>T (p.Ser127=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355319] Chr5:112767349 [GRCh38]
Chr5:112103046 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2381G>A (p.Ser794Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457906] Chr5:112837975 [GRCh38]
Chr5:112173672 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3892del (p.Ser1298fs) deletion Hereditary cancer-predisposing syndrome [RCV002357411] Chr5:112839485 [GRCh38]
Chr5:112175182 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3897T>G (p.Ala1299=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357436] Chr5:112839491 [GRCh38]
Chr5:112175188 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.315C>T (p.Ser105=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653595]|Hereditary cancer-predisposing syndrome [RCV002320910] Chr5:112767283 [GRCh38]
Chr5:112102980 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3900T>C (p.Asn1300=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357465] Chr5:112839494 [GRCh38]
Chr5:112175191 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3272C>T (p.Pro1091Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743863] Chr5:112838866 [GRCh38]
Chr5:112174563 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.904C>G (p.Arg302Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744029]|Hereditary cancer-predisposing syndrome [RCV002378494] Chr5:112815564 [GRCh38]
Chr5:112151261 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7330A>G (p.Ile2444Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380178] Chr5:112842924 [GRCh38]
Chr5:112178621 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2158A>C (p.Met720Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743848] Chr5:112837752 [GRCh38]
Chr5:112173449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2537C>G (p.Ser846Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433205] Chr5:112838131 [GRCh38]
Chr5:112173828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-3C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401172] Chr5:112828853 [GRCh38]
Chr5:112164550 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1358T>C (p.Leu453Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383405] Chr5:112821941 [GRCh38]
Chr5:112157638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8210A>C (p.Glu2737Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743887]|Hereditary cancer-predisposing syndrome [RCV002409644] Chr5:112843804 [GRCh38]
Chr5:112179501 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.348T>C (p.Gly116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459016] Chr5:112767316 [GRCh38]
Chr5:112103013 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2195A>C (p.Asn732Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002425587] Chr5:112837789 [GRCh38]
Chr5:112173486 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6014C>T (p.Ser2005Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358075] Chr5:112841608 [GRCh38]
Chr5:112177305 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.914C>G (p.Thr305Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744030]|Hereditary cancer-predisposing syndrome [RCV002378789] Chr5:112815574 [GRCh38]
Chr5:112151271 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3146G>C (p.Trp1049Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743851] Chr5:112838740 [GRCh38]
Chr5:112174437 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-3958C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328138] Chr5:112771671 [GRCh38]
Chr5:112107368 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.426A>T (p.Ser142=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330003] Chr5:112775632 [GRCh38]
Chr5:112111329 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4902G>C (p.Pro1634=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340658] Chr5:112840496 [GRCh38]
Chr5:112176193 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4904G>A (p.Gly1635Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534868]|Hereditary cancer-predisposing syndrome [RCV002340665] Chr5:112840498 [GRCh38]
Chr5:112176195 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3906G>T (p.Leu1302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357487] Chr5:112839500 [GRCh38]
Chr5:112175197 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3352A>C (p.Asn1118His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775596]|Hereditary cancer-predisposing syndrome [RCV002320995] Chr5:112838946 [GRCh38]
Chr5:112174643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.264G>C (p.Arg88=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428683] Chr5:112767232 [GRCh38]
Chr5:112102929 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4037C>A (p.Ser1346Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359578] Chr5:112839631 [GRCh38]
Chr5:112175328 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6398A>C (p.Asp2133Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361531] Chr5:112841992 [GRCh38]
Chr5:112177689 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.342T>C (p.Pro114=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337458] Chr5:112767310 [GRCh38]
Chr5:112103007 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5191G>T (p.Ala1731Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338512] Chr5:112840785 [GRCh38]
Chr5:112176482 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5829A>G (p.Arg1943=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353187] Chr5:112841423 [GRCh38]
Chr5:112177120 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7658A>G (p.Lys2553Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003097977]|Familial adenomatous polyposis 1 [RCV003743908] Chr5:112843252 [GRCh38]
Chr5:112178949 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2976dup (p.Lys993Ter) duplication Familial adenomatous polyposis 1 [RCV003337413]|Hereditary cancer-predisposing syndrome [RCV002442146] Chr5:112838569..112838570 [GRCh38]
Chr5:112174266..112174267 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.308_309insCT (p.Ser104fs) insertion Hereditary cancer-predisposing syndrome [RCV002319879] Chr5:112767275..112767276 [GRCh38]
Chr5:112102972..112102973 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7515A>G (p.Arg2505=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393795] Chr5:112843109 [GRCh38]
Chr5:112178806 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6567A>C (p.Lys2189Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743880] Chr5:112842161 [GRCh38]
Chr5:112177858 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7883A>C (p.Gln2628Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743916] Chr5:112843477 [GRCh38]
Chr5:112179174 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3283del (p.Gln1095fs) deletion Hereditary cancer-predisposing syndrome [RCV002445783] Chr5:112838877 [GRCh38]
Chr5:112174574 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.165T>C (p.Ile55=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403815] Chr5:112766355 [GRCh38]
Chr5:112102052 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.915A>T (p.Thr305=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378820] Chr5:112815575 [GRCh38]
Chr5:112151272 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6448C>T (p.Leu2150Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361819] Chr5:112842042 [GRCh38]
Chr5:112177739 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2484T>G (p.Thr828=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430842] Chr5:112838078 [GRCh38]
Chr5:112173775 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7051C>G (p.Pro2351Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364986] Chr5:112842645 [GRCh38]
Chr5:112178342 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7056T>C (p.Ser2352=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364995] Chr5:112842650 [GRCh38]
Chr5:112178347 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4922T>A (p.Val1641Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340727] Chr5:112840516 [GRCh38]
Chr5:112176213 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4281T>C (p.Pro1427=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330135] Chr5:112839875 [GRCh38]
Chr5:112175572 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4287A>G (p.Gln1429=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653602]|Hereditary cancer-predisposing syndrome [RCV002330163] Chr5:112839881 [GRCh38]
Chr5:112175578 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3050A>G (p.Asn1017Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743898]|Hereditary cancer-predisposing syndrome [RCV002443306] Chr5:112838644 [GRCh38]
Chr5:112174341 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5500G>T (p.Val1834Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743907] Chr5:112841094 [GRCh38]
Chr5:112176791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3902C>G (p.Thr1301Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373096] Chr5:112839496 [GRCh38]
Chr5:112175193 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2806A>C (p.Asn936His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441643] Chr5:112838400 [GRCh38]
Chr5:112174097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2253T>C (p.Ser751=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443590] Chr5:112837847 [GRCh38]
Chr5:112173544 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2255_2256del (p.Leu752fs) deletion Familial adenomatous polyposis 1 [RCV003337409]|Hereditary cancer-predisposing syndrome [RCV002443609] Chr5:112837849..112837850 [GRCh38]
Chr5:112173546..112173547 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7368G>T (p.Leu2456Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380336] Chr5:112842962 [GRCh38]
Chr5:112178659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3323A>T (p.Asn1108Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326403] Chr5:112838917 [GRCh38]
Chr5:112174614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3326G>T (p.Gly1109Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326430] Chr5:112838920 [GRCh38]
Chr5:112174617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3549T>C (p.Tyr1183=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653600]|Hereditary cancer-predisposing syndrome [RCV002337625] Chr5:112839143 [GRCh38]
Chr5:112174840 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2553T>C (p.Ser851=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002433324] Chr5:112838147 [GRCh38]
Chr5:112173844 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6595A>G (p.Ile2199Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743993]|Hereditary cancer-predisposing syndrome [RCV002364549] Chr5:112842189 [GRCh38]
Chr5:112177886 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1368_1369del (p.Ser457fs) deletion Familial adenomatous polyposis 1 [RCV003337406]|Hereditary cancer-predisposing syndrome [RCV002383617] Chr5:112821950..112821951 [GRCh38]
Chr5:112157647..112157648 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4880A>G (p.Gln1627Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340482] Chr5:112840474 [GRCh38]
Chr5:112176171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2777_2778dup (p.Ala927fs) microsatellite Familial adenomatous polyposis 1 [RCV003337411]|Hereditary cancer-predisposing syndrome [RCV002439667] Chr5:112838368..112838369 [GRCh38]
Chr5:112174065..112174066 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5983T>A (p.Ser1995Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356160] Chr5:112841577 [GRCh38]
Chr5:112177274 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3082A>G (p.Ser1028Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002319894] Chr5:112838676 [GRCh38]
Chr5:112174373 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2979G>A (p.Lys993=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442177] Chr5:112838573 [GRCh38]
Chr5:112174270 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.879T>G (p.Ser293Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373690] Chr5:112815539 [GRCh38]
Chr5:112151236 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3507G>T (p.Glu1169Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459185] Chr5:112839101 [GRCh38]
Chr5:112174798 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8189C>G (p.Ala2730Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427827] Chr5:112843783 [GRCh38]
Chr5:112179480 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3059A>T (p.Glu1020Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444172] Chr5:112838653 [GRCh38]
Chr5:112174350 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4102A>G (p.Thr1368Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323354] Chr5:112839696 [GRCh38]
Chr5:112175393 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4106C>T (p.Pro1369Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323375] Chr5:112839700 [GRCh38]
Chr5:112175397 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8430dup (p.Asn2811Ter) duplication Hereditary cancer-predisposing syndrome [RCV002445916] Chr5:112844023..112844024 [GRCh38]
Chr5:112179720..112179721 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6451dup (p.Thr2151fs) duplication Familial adenomatous polyposis 1 [RCV003336565]|Hereditary cancer-predisposing syndrome [RCV002361852] Chr5:112842044..112842045 [GRCh38]
Chr5:112177741..112177742 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5093A>T (p.Asp1698Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743971]|Hereditary cancer-predisposing syndrome [RCV002335948]|not provided [RCV003476960] Chr5:112840687 [GRCh38]
Chr5:112176384 [GRCh37]
Chr5:5q22.2		 benign|uncertain significance
NM_000038.6(APC):c.4803A>G (p.Leu1601=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337894] Chr5:112840397 [GRCh38]
Chr5:112176094 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4804C>A (p.Pro1602Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534866]|Hereditary cancer-predisposing syndrome [RCV002337898] Chr5:112840398 [GRCh38]
Chr5:112176095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7076C>T (p.Ser2359Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002365113] Chr5:112842670 [GRCh38]
Chr5:112178367 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1176C>T (p.His392=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328434] Chr5:112819208 [GRCh38]
Chr5:112154905 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5834_5838dup (p.Thr1947fs) duplication Hereditary cancer-predisposing syndrome [RCV002353249] Chr5:112841427..112841428 [GRCh38]
Chr5:112177124..112177125 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3939T>A (p.Thr1313=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373255] Chr5:112839533 [GRCh38]
Chr5:112175230 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7465C>A (p.Pro2489Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391439] Chr5:112843059 [GRCh38]
Chr5:112178756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7479A>T (p.Leu2493=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744008]|Hereditary cancer-predisposing syndrome [RCV002391484] Chr5:112843073 [GRCh38]
Chr5:112178770 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3586dup (p.Ser1196fs) duplication Familial adenomatous polyposis 1 [RCV003336535]|Familial adenomatous polyposis 1 [RCV003653601]|Hereditary cancer-predisposing syndrome [RCV002460292] Chr5:112839176..112839177 [GRCh38]
Chr5:112174873..112174874 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.176C>T (p.Ala59Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002401803] Chr5:112766366 [GRCh38]
Chr5:112102063 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5054A>G (p.Glu1685Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335752] Chr5:112840648 [GRCh38]
Chr5:112176345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3259_3261del (p.Leu1087del) deletion Familial adenomatous polyposis 1 [RCV003743935]|Hereditary cancer-predisposing syndrome [RCV002324930] Chr5:112838852..112838854 [GRCh38]
Chr5:112174549..112174551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1593C>T (p.Ala531=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774397]|Hereditary cancer-predisposing syndrome [RCV002398483] Chr5:112827973 [GRCh38]
Chr5:112163670 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.474T>G (p.Tyr158Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002337637] Chr5:112775680 [GRCh38]
Chr5:112111377 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5205G>T (p.Gly1735=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338659] Chr5:112840799 [GRCh38]
Chr5:112176496 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6624A>C (p.Glu2208Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364622] Chr5:112842218 [GRCh38]
Chr5:112177915 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4901C>G (p.Pro1634Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743963]|Hereditary cancer-predisposing syndrome [RCV002340654] Chr5:112840495 [GRCh38]
Chr5:112176192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1167CAT[1] (p.Ile391del) microsatellite Hereditary cancer-predisposing syndrome [RCV002330120] Chr5:112819199..112819201 [GRCh38]
Chr5:112154896..112154898 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5886C>T (p.Cys1962=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353549] Chr5:112841480 [GRCh38]
Chr5:112177177 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.291A>C (p.Gly97=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439913] Chr5:112767259 [GRCh38]
Chr5:112102956 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.649A>G (p.Arg217Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356264] Chr5:112792449 [GRCh38]
Chr5:112128146 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3512G>T (p.Arg1171Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459230] Chr5:112839106 [GRCh38]
Chr5:112174803 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3060A>T (p.Glu1020Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444216] Chr5:112838654 [GRCh38]
Chr5:112174351 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6065C>T (p.Ser2022Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534874]|Hereditary cancer-predisposing syndrome [RCV002358333] Chr5:112841659 [GRCh38]
Chr5:112177356 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3063A>G (p.Leu1021=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003111560]|Hereditary cancer-predisposing syndrome [RCV002444240] Chr5:112838657 [GRCh38]
Chr5:112174354 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5102A>C (p.Gln1701Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336002] Chr5:112840696 [GRCh38]
Chr5:112176393 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5103A>T (p.Gln1701His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336005] Chr5:112840697 [GRCh38]
Chr5:112176394 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5862del (p.Phe1954fs) deletion Familial adenomatous polyposis 1 [RCV003336560]|Hereditary cancer-predisposing syndrome [RCV002353420] Chr5:112841453 [GRCh38]
Chr5:112177150 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2771G>T (p.Arg924Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002439626] Chr5:112838365 [GRCh38]
Chr5:112174062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2956T>C (p.Tyr986His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441927] Chr5:112838550 [GRCh38]
Chr5:112174247 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5939A>G (p.Asn1980Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003098070]|Familial adenomatous polyposis 1 [RCV003534872]|Hereditary cancer-predisposing syndrome [RCV002355908] Chr5:112841533 [GRCh38]
Chr5:112177230 [GRCh37]
Chr5:5q22.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7500G>T (p.Gln2500His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391624] Chr5:112843094 [GRCh38]
Chr5:112178791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1783T>A (p.Leu595Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407701] Chr5:112834990 [GRCh38]
Chr5:112170687 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1615G>T (p.Asp539Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400970] Chr5:112827995 [GRCh38]
Chr5:112163692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4578T>A (p.Pro1526=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342176] Chr5:112840172 [GRCh38]
Chr5:112175869 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4166C>A (p.Ser1389Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333351] Chr5:112839760 [GRCh38]
Chr5:112175457 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3698del (p.Pro1233fs) deletion Hereditary cancer-predisposing syndrome [RCV002346765] Chr5:112839291 [GRCh38]
Chr5:112174988 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.532-4_532-3dup duplication Hereditary cancer-predisposing syndrome [RCV002346800] Chr5:112780783..112780784 [GRCh38]
Chr5:112116480..112116481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.166_167delinsTT (p.Glu56Leu) indel Familial adenomatous polyposis 1 [RCV003743855] Chr5:112766356..112766357 [GRCh38]
Chr5:112102053..112102054 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7518A>T (p.Lys2506Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393805] Chr5:112843112 [GRCh38]
Chr5:112178809 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7527T>A (p.Pro2509=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393851] Chr5:112843121 [GRCh38]
Chr5:112178818 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6044A>C (p.Glu2015Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534873]|Hereditary cancer-predisposing syndrome [RCV002358235] Chr5:112841638 [GRCh38]
Chr5:112177335 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8484C>T (p.Thr2828=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447645] Chr5:112844078 [GRCh38]
Chr5:112179775 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5093A>G (p.Asp1698Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743970]|Hereditary cancer-predisposing syndrome [RCV002335947] Chr5:112840687 [GRCh38]
Chr5:112176384 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-191T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410691] Chr5:112707527 [GRCh38]
Chr5:112043224 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4358C>A (p.Pro1453His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332309] Chr5:112839952 [GRCh38]
Chr5:112175649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.435T>G (p.Leu145=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332349] Chr5:112775641 [GRCh38]
Chr5:112111338 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7255A>T (p.Met2419Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653614]|Hereditary cancer-predisposing syndrome [RCV002371131] Chr5:112842849 [GRCh38]
Chr5:112178546 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2957A>C (p.Tyr986Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743911] Chr5:112838551 [GRCh38]
Chr5:112174248 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6018C>A (p.Gly2006=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358086] Chr5:112841612 [GRCh38]
Chr5:112177309 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.751G>A (p.Glu251Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744009]|Hereditary cancer-predisposing syndrome [RCV002393829] Chr5:112801300 [GRCh38]
Chr5:112136997 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6424A>G (p.Ile2142Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743988]|Hereditary cancer-predisposing syndrome [RCV002361691] Chr5:112842018 [GRCh38]
Chr5:112177715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1658G>T (p.Trp553Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403765] Chr5:112828887 [GRCh38]
Chr5:112164584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1861A>T (p.Thr621Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743876] Chr5:112835068 [GRCh38]
Chr5:112170765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3972A>G (p.Pro1324=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375498] Chr5:112839566 [GRCh38]
Chr5:112175263 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5044G>A (p.Gly1682Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534869]|Hereditary cancer-predisposing syndrome [RCV002335683] Chr5:112840638 [GRCh38]
Chr5:112176335 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5046T>G (p.Gly1682=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335691] Chr5:112840640 [GRCh38]
Chr5:112176337 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6422G>T (p.Gly2141Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361685] Chr5:112842016 [GRCh38]
Chr5:112177713 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5163T>C (p.Gly1721=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338334] Chr5:112840757 [GRCh38]
Chr5:112176454 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-2A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003336709]|Hereditary cancer-predisposing syndrome [RCV002401171] Chr5:112828854 [GRCh38]
Chr5:112164551 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4173T>C (p.Ser1391=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333415] Chr5:112839767 [GRCh38]
Chr5:112175464 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.534T>C (p.Phe178=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346969] Chr5:112780792 [GRCh38]
Chr5:112116489 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5365G>A (p.Val1789Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347042] Chr5:112840959 [GRCh38]
Chr5:112176656 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.926del (p.Gly309fs) deletion Hereditary cancer-predisposing syndrome [RCV002371434] Chr5:112815584 [GRCh38]
Chr5:112151281 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2940A>G (p.Lys980=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440162] Chr5:112838534 [GRCh38]
Chr5:112174231 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7561A>C (p.Arg2521=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394028] Chr5:112843155 [GRCh38]
Chr5:112178852 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3069A>G (p.Thr1023=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742846]|Hereditary cancer-predisposing syndrome [RCV002444296] Chr5:112838663 [GRCh38]
Chr5:112174360 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5100T>C (p.Ala1700=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002336001] Chr5:112840694 [GRCh38]
Chr5:112176391 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8510C>A (p.Ser2837Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447752] Chr5:112844104 [GRCh38]
Chr5:112179801 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8513A>T (p.Tyr2838Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447756] Chr5:112844107 [GRCh38]
Chr5:112179804 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8522C>A (p.Thr2841Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002447779] Chr5:112844116 [GRCh38]
Chr5:112179813 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4975G>C (p.Asp1659His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342865] Chr5:112840569 [GRCh38]
Chr5:112176266 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1930A>G (p.Ser644Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410911] Chr5:112835137 [GRCh38]
Chr5:112170834 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6232C>A (p.Leu2078Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743929] Chr5:112841826 [GRCh38]
Chr5:112177523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8186A>T (p.Asp2729Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534885]|Hereditary cancer-predisposing syndrome [RCV002427823] Chr5:112843780 [GRCh38]
Chr5:112179477 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6593T>C (p.Leu2198Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375813] Chr5:112842187 [GRCh38]
Chr5:112177884 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7563A>G (p.Arg2521=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394031] Chr5:112843157 [GRCh38]
Chr5:112178854 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3424A>G (p.Asn1142Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743938]|Hereditary cancer-predisposing syndrome [RCV002456972] Chr5:112839018 [GRCh38]
Chr5:112174715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6006T>C (p.Pro2002=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358033] Chr5:112841600 [GRCh38]
Chr5:112177297 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6028A>C (p.Lys2010Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743984]|Hereditary cancer-predisposing syndrome [RCV002358141] Chr5:112841622 [GRCh38]
Chr5:112177319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7534A>C (p.Ser2512Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002393894] Chr5:112843128 [GRCh38]
Chr5:112178825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.913A>T (p.Thr305Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378758] Chr5:112815573 [GRCh38]
Chr5:112151270 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.644A>C (p.Gln215Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002361826] Chr5:112780902 [GRCh38]
Chr5:112116599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.517C>T (p.Pro173Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653605]|Hereditary cancer-predisposing syndrome [RCV002338435] Chr5:112775723 [GRCh38]
Chr5:112111420 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4180G>A (p.Asp1394Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002327711] Chr5:112839774 [GRCh38]
Chr5:112175471 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1800T>G (p.Thr600=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407915] Chr5:112835007 [GRCh38]
Chr5:112170704 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4565T>C (p.Leu1522Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340223] Chr5:112840159 [GRCh38]
Chr5:112175856 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4847A>G (p.Lys1616Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743961]|Hereditary cancer-predisposing syndrome [RCV002340253] Chr5:112840441 [GRCh38]
Chr5:112176138 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4300del (p.Ser1434fs) deletion Hereditary cancer-predisposing syndrome [RCV002331894] Chr5:112839893 [GRCh38]
Chr5:112175590 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7346G>T (p.Ser2449Ile) single nucleotide variant Hepatocellular carcinoma [RCV002302753] Chr5:112842940 [GRCh38]
Chr5:112178637 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5693C>T (p.Thr1898Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347499] Chr5:112841287 [GRCh38]
Chr5:112176984 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.56A>G (p.Glu19Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347544] Chr5:112754946 [GRCh38]
Chr5:112090643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1876A>C (p.Thr626Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415193] Chr5:112835083 [GRCh38]
Chr5:112170780 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1877C>T (p.Thr626Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774536]|Hereditary cancer-predisposing syndrome [RCV002415216] Chr5:112835084 [GRCh38]
Chr5:112170781 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5626A>G (p.Arg1876Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743883] Chr5:112841220 [GRCh38]
Chr5:112176917 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3163del (p.His1054_Ile1055insTer) deletion Hereditary cancer-predisposing syndrome [RCV002322539] Chr5:112838757 [GRCh38]
Chr5:112174454 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7706G>C (p.Ser2569Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400612] Chr5:112843300 [GRCh38]
Chr5:112178997 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4497A>C (p.Gly1499=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534863]|Hereditary cancer-predisposing syndrome [RCV002328646] Chr5:112840091 [GRCh38]
Chr5:112175788 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3412G>T (p.Asp1138Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332997] Chr5:112839006 [GRCh38]
Chr5:112174703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4135del (p.Glu1379fs) deletion Hereditary cancer-predisposing syndrome [RCV002333092] Chr5:112839728 [GRCh38]
Chr5:112175425 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4140C>T (p.Thr1380=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333143] Chr5:112839734 [GRCh38]
Chr5:112175431 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.344T>C (p.Met115Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002457198] Chr5:112767312 [GRCh38]
Chr5:112103009 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7587A>G (p.Ala2529=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394134] Chr5:112843181 [GRCh38]
Chr5:112178878 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2219C>G (p.Ala740Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428044] Chr5:112837813 [GRCh38]
Chr5:112173510 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2902A>G (p.Ser968Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743882] Chr5:112838496 [GRCh38]
Chr5:112174193 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5122_5123del (p.Val1708fs) deletion Hereditary cancer-predisposing syndrome [RCV002336065] Chr5:112840715..112840716 [GRCh38]
Chr5:112176412..112176413 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6495A>G (p.Pro2165=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362006] Chr5:112842089 [GRCh38]
Chr5:112177786 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.249T>A (p.Pro83=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002431058] Chr5:112767217 [GRCh38]
Chr5:112102914 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3053A>C (p.Asp1018Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002444130] Chr5:112838647 [GRCh38]
Chr5:112174344 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6058T>G (p.Cys2020Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002358289] Chr5:112841652 [GRCh38]
Chr5:112177349 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6600T>C (p.Thr2200=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743994]|Hereditary cancer-predisposing syndrome [RCV002375837] Chr5:112842194 [GRCh38]
Chr5:112177891 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1258T>G (p.Cys420Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002427929] Chr5:112819290 [GRCh38]
Chr5:112154987 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6602G>A (p.Gly2201Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002375838] Chr5:112842196 [GRCh38]
Chr5:112177893 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6066A>G (p.Ser2022=) single nucleotide variant APC-related condition [RCV003933760]|Hereditary cancer-predisposing syndrome [RCV002358335] Chr5:112841660 [GRCh38]
Chr5:112177357 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6113T>G (p.Leu2038Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743850] Chr5:112841707 [GRCh38]
Chr5:112177404 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1891A>G (p.Ile631Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003097328]|Familial adenomatous polyposis 1 [RCV003653627]|Hereditary cancer-predisposing syndrome [RCV002408029] Chr5:112835098 [GRCh38]
Chr5:112170795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.135T>G (p.Arg45=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002383473] Chr5:112707852 [GRCh38]
Chr5:112043549 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4309A>G (p.Lys1437Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002331936] Chr5:112839903 [GRCh38]
Chr5:112175600 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1065C>T (p.Leu355=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414979] Chr5:112819097 [GRCh38]
Chr5:112154794 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5270C>T (p.Ser1757Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743856] Chr5:112840864 [GRCh38]
Chr5:112176561 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2332A>G (p.Asn778Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534894]|Hereditary cancer-predisposing syndrome [RCV002457640] Chr5:112837926 [GRCh38]
Chr5:112173623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4507T>A (p.Ser1503Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339872] Chr5:112840101 [GRCh38]
Chr5:112175798 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3162_3163del (p.Ile1055fs) microsatellite Familial adenomatous polyposis 1 [RCV003336520]|Hereditary cancer-predisposing syndrome [RCV002322522] Chr5:112838753..112838754 [GRCh38]
Chr5:112174450..112174451 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3163A>T (p.Ile1055Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322536] Chr5:112838757 [GRCh38]
Chr5:112174454 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.893del (p.His298fs) deletion Hereditary cancer-predisposing syndrome [RCV002376179] Chr5:112815553 [GRCh38]
Chr5:112151250 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6878del (p.Gly2293fs) deletion Hereditary cancer-predisposing syndrome [RCV002362206] Chr5:112842471 [GRCh38]
Chr5:112178168 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3476CAA[1] (p.Thr1160del) microsatellite Hereditary cancer-predisposing syndrome [RCV002457344] Chr5:112839070..112839072 [GRCh38]
Chr5:112174767..112174769 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8213T>G (p.Ile2738Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744022]|Hereditary cancer-predisposing syndrome [RCV002427971] Chr5:112843807 [GRCh38]
Chr5:112179504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8402G>T (p.Arg2801Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743881] Chr5:112843996 [GRCh38]
Chr5:112179693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7578T>G (p.His2526Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394098] Chr5:112843172 [GRCh38]
Chr5:112178869 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7587A>T (p.Ala2529=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394135] Chr5:112843181 [GRCh38]
Chr5:112178878 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.758G>A (p.Gly253Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394154] Chr5:112801307 [GRCh38]
Chr5:112137004 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7595A>T (p.His2532Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394167] Chr5:112843189 [GRCh38]
Chr5:112178886 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1781_1782del (p.Asn594fs) deletion Hereditary cancer-predisposing syndrome [RCV002404091] Chr5:112834988..112834989 [GRCh38]
Chr5:112170685..112170686 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6567del (p.Gly2190fs) deletion Hereditary cancer-predisposing syndrome [RCV002364429] Chr5:112842159 [GRCh38]
Chr5:112177856 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2541A>G (p.Glu847=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653629]|Hereditary cancer-predisposing syndrome [RCV002433232] Chr5:112838135 [GRCh38]
Chr5:112173832 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4885_4895dup (p.Thr1633fs) duplication Familial adenomatous polyposis 1 [RCV003337401]|Hereditary cancer-predisposing syndrome [RCV002340500] Chr5:112840478..112840479 [GRCh38]
Chr5:112176175..112176176 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4608A>G (p.Glu1536=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743955]|Hereditary cancer-predisposing syndrome [RCV002342421] Chr5:112840202 [GRCh38]
Chr5:112175899 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4321C>T (p.Pro1441Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332044] Chr5:112839915 [GRCh38]
Chr5:112175612 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7863T>C (p.Ser2621=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412243] Chr5:112843457 [GRCh38]
Chr5:112179154 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7866C>G (p.Pro2622=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534884]|Hereditary cancer-predisposing syndrome [RCV002412249] Chr5:112843460 [GRCh38]
Chr5:112179157 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5142T>C (p.Asp1714=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344255] Chr5:112840736 [GRCh38]
Chr5:112176433 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5357G>T (p.Arg1786Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346994] Chr5:112840951 [GRCh38]
Chr5:112176648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2791C>T (p.His931Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002441428] Chr5:112838385 [GRCh38]
Chr5:112174082 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2304del (p.Leu769fs) deletion Familial adenomatous polyposis 1 [RCV003336733]|Hereditary cancer-predisposing syndrome [RCV002428484] Chr5:112837898 [GRCh38]
Chr5:112173595 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.902C>T (p.Pro301Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002376454] Chr5:112815562 [GRCh38]
Chr5:112151259 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1454T>G (p.Met485Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394677] Chr5:112827153 [GRCh38]
Chr5:112162850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4515C>G (p.Ser1505Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002339948] Chr5:112840109 [GRCh38]
Chr5:112175806 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.765_766dup (p.Asp256fs) duplication Hepatocellular carcinoma [RCV002302832] Chr5:112801313..112801314 [GRCh38]
Chr5:112137010..112137011 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7853A>C (p.Asn2618Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412214] Chr5:112843447 [GRCh38]
Chr5:112179144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7862C>A (p.Ser2621Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412240] Chr5:112843456 [GRCh38]
Chr5:112179153 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5131C>A (p.Pro1711Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344228] Chr5:112840725 [GRCh38]
Chr5:112176422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3175_3179del (p.Glu1059fs) deletion Familial adenomatous polyposis 1 [RCV003337394]|Hereditary cancer-predisposing syndrome [RCV002322683] Chr5:112838767..112838771 [GRCh38]
Chr5:112174464..112174468 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6537A>C (p.Lys2179Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743885] Chr5:112842131 [GRCh38]
Chr5:112177828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2630G>A (p.Gly877Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428554] Chr5:112838224 [GRCh38]
Chr5:112173921 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3095C>T (p.Ser1032Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325843] Chr5:112838689 [GRCh38]
Chr5:112174386 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3096A>G (p.Ser1032=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325850] Chr5:112838690 [GRCh38]
Chr5:112174387 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6934C>G (p.Pro2312Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362402] Chr5:112842528 [GRCh38]
Chr5:112178225 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.233_264dup (p.Ser89delinsIleAlaValIleSerLeuGluTer) duplication Hereditary cancer-predisposing syndrome [RCV002448200] Chr5:112767199..112767200 [GRCh38]
Chr5:112102896..112102897 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6876A>C (p.Ile2292=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362203] Chr5:112842470 [GRCh38]
Chr5:112178167 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6879T>C (p.Gly2293=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002362211] Chr5:112842473 [GRCh38]
Chr5:112178170 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2369G>A (p.Arg790Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002450157] Chr5:112837963 [GRCh38]
Chr5:112173660 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4261A>T (p.Ser1421Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002329951] Chr5:112839855 [GRCh38]
Chr5:112175552 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4899A>G (p.Thr1633=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340572] Chr5:112840493 [GRCh38]
Chr5:112176190 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4610C>T (p.Thr1537Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342457] Chr5:112840204 [GRCh38]
Chr5:112175901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4328C>T (p.Pro1443Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332078] Chr5:112839922 [GRCh38]
Chr5:112175619 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7872T>G (p.Asn2624Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744013]|Hereditary cancer-predisposing syndrome [RCV002412287] Chr5:112843466 [GRCh38]
Chr5:112179163 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5239A>C (p.Met1747Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344328] Chr5:112840833 [GRCh38]
Chr5:112176530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5269T>A (p.Ser1757Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344367] Chr5:112840863 [GRCh38]
Chr5:112176560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7959A>C (p.Lys2653Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412380] Chr5:112843553 [GRCh38]
Chr5:112179250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1717A>T (p.Met573Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002414757] Chr5:112828946 [GRCh38]
Chr5:112164643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.537C>T (p.Ser179=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347109] Chr5:112780795 [GRCh38]
Chr5:112116492 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5385A>G (p.Ser1795=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347148] Chr5:112840979 [GRCh38]
Chr5:112176676 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5395T>G (p.Leu1799Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743978]|Hereditary cancer-predisposing syndrome [RCV002347208] Chr5:112840989 [GRCh38]
Chr5:112176686 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2794T>G (p.Ser932Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775376]|Hereditary cancer-predisposing syndrome [RCV002441457] Chr5:112838388 [GRCh38]
Chr5:112174085 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.2807del (p.Asn936fs) deletion Familial adenomatous polyposis 1 [RCV003337412]|Hereditary cancer-predisposing syndrome [RCV002441651] Chr5:112838400 [GRCh38]
Chr5:112174097 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3875C>A (p.Thr1292Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355646] Chr5:112839469 [GRCh38]
Chr5:112175166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4021A>C (p.Ser1341Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359492] Chr5:112839615 [GRCh38]
Chr5:112175312 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1885T>G (p.Leu629Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002407931] Chr5:112835092 [GRCh38]
Chr5:112170789 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5214C>G (p.His1738Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743974]|Hereditary cancer-predisposing syndrome [RCV002344278] Chr5:112840808 [GRCh38]
Chr5:112176505 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5231A>C (p.Lys1744Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344319] Chr5:112840825 [GRCh38]
Chr5:112176522 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2783C>T (p.Ala928Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534899]|Hereditary cancer-predisposing syndrome [RCV002441335] Chr5:112838377 [GRCh38]
Chr5:112174074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1002G>T (p.Leu334Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002394680] Chr5:112819034 [GRCh38]
Chr5:112154731 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3197G>T (p.Arg1066Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002322910] Chr5:112838791 [GRCh38]
Chr5:112174488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3822T>A (p.Cys1274Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355344] Chr5:112839416 [GRCh38]
Chr5:112175113 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3854A>G (p.Asp1285Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743947]|Hereditary cancer-predisposing syndrome [RCV002355498] Chr5:112839448 [GRCh38]
Chr5:112175145 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.224T>G (p.Leu75Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775155]|Hereditary cancer-predisposing syndrome [RCV002428456] Chr5:112767192 [GRCh38]
Chr5:112102889 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1129A>C (p.Lys377Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002325933] Chr5:112819161 [GRCh38]
Chr5:112154858 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4266T>C (p.Asp1422=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534861]|Hereditary cancer-predisposing syndrome [RCV002329983] Chr5:112839860 [GRCh38]
Chr5:112175557 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.426A>C (p.Ser142=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330000] Chr5:112775632 [GRCh38]
Chr5:112111329 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4276A>C (p.Ser1426Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330066] Chr5:112839870 [GRCh38]
Chr5:112175567 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4910A>G (p.Asp1637Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340700] Chr5:112840504 [GRCh38]
Chr5:112176201 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5270C>A (p.Ser1757Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776077]|Hereditary cancer-predisposing syndrome [RCV002344402]|not provided [RCV003235708] Chr5:112840864 [GRCh38]
Chr5:112176561 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8031T>C (p.Gly2677=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412428] Chr5:112843625 [GRCh38]
Chr5:112179322 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8214A>T (p.Ile2738=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412500] Chr5:112843808 [GRCh38]
Chr5:112179505 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1871G>A (p.Ser624Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002415118] Chr5:112835078 [GRCh38]
Chr5:112170775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5920G>A (p.Asp1974Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743983]|Hereditary cancer-predisposing syndrome [RCV002355818] Chr5:112841514 [GRCh38]
Chr5:112177211 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7493C>G (p.Ser2498Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003099655]|Hereditary cancer-predisposing syndrome [RCV002391573] Chr5:112843087 [GRCh38]
Chr5:112178784 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3232T>G (p.Tyr1078Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653596]|Hereditary cancer-predisposing syndrome [RCV002445551] Chr5:112838826 [GRCh38]
Chr5:112174523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3313C>G (p.Arg1105Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326335] Chr5:112838907 [GRCh38]
Chr5:112174604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6467A>G (p.Glu2156Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743877] Chr5:112842061 [GRCh38]
Chr5:112177758 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7362A>G (p.Arg2454=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380314] Chr5:112842956 [GRCh38]
Chr5:112178653 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4854A>C (p.Leu1618=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340298] Chr5:112840448 [GRCh38]
Chr5:112176145 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8211G>C (p.Glu2737Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412498] Chr5:112843805 [GRCh38]
Chr5:112179502 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8407T>C (p.Ser2803Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412600] Chr5:112844001 [GRCh38]
Chr5:112179698 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7485A>G (p.Thr2495=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391520] Chr5:112843079 [GRCh38]
Chr5:112178776 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7488T>A (p.His2496Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003475357]|Hereditary cancer-predisposing syndrome [RCV002391534] Chr5:112843082 [GRCh38]
Chr5:112178779 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.867C>T (p.Ala289=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002373361] Chr5:112815527 [GRCh38]
Chr5:112151224 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3856G>A (p.Glu1286Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355512] Chr5:112839450 [GRCh38]
Chr5:112175147 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7461C>A (p.Ser2487=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391429] Chr5:112843055 [GRCh38]
Chr5:112178752 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7461C>T (p.Ser2487=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391432] Chr5:112843055 [GRCh38]
Chr5:112178752 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4023T>A (p.Ser1341Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359504] Chr5:112839617 [GRCh38]
Chr5:112175314 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2342_2343delinsT (p.Pro781fs) indel Hereditary cancer-predisposing syndrome [RCV002448296] Chr5:112837936..112837937 [GRCh38]
Chr5:112173633..112173634 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7312G>C (p.Val2438Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380065] Chr5:112842906 [GRCh38]
Chr5:112178603 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.731G>A (p.Arg244Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003098538]|Hereditary cancer-predisposing syndrome [RCV002380101] Chr5:112801280 [GRCh38]
Chr5:112136977 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7323A>G (p.Ser2441=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380122] Chr5:112842917 [GRCh38]
Chr5:112178614 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6995G>T (p.Gly2332Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364692] Chr5:112842589 [GRCh38]
Chr5:112178286 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4281T>A (p.Pro1427=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330132] Chr5:112839875 [GRCh38]
Chr5:112175572 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1918C>A (p.Arg640=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774564]|Hereditary cancer-predisposing syndrome [RCV002410639] Chr5:112835125 [GRCh38]
Chr5:112170822 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5294T>C (p.Leu1765Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653606]|Hereditary cancer-predisposing syndrome [RCV002344540] Chr5:112840888 [GRCh38]
Chr5:112176585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5299G>A (p.Gly1767Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344553] Chr5:112840893 [GRCh38]
Chr5:112176590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8249A>C (p.Glu2750Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412548] Chr5:112843843 [GRCh38]
Chr5:112179540 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5949A>C (p.Glu1983Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355957] Chr5:112841543 [GRCh38]
Chr5:112177240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3255A>T (p.Lys1085Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534857]|Hereditary cancer-predisposing syndrome [RCV002445633] Chr5:112838849 [GRCh38]
Chr5:112174546 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.332del (p.Ser111fs) deletion Hereditary cancer-predisposing syndrome [RCV002326468] Chr5:112767300 [GRCh38]
Chr5:112102997 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1024G>A (p.Asp342Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380575] Chr5:112819056 [GRCh38]
Chr5:112154753 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3342A>T (p.Arg1114=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002326604] Chr5:112838936 [GRCh38]
Chr5:112174633 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4263del (p.Ser1421fs) deletion Hereditary cancer-predisposing syndrome [RCV002329962] Chr5:112839857 [GRCh38]
Chr5:112175554 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7502C>T (p.Ala2501Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002391630] Chr5:112843096 [GRCh38]
Chr5:112178793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1212C>T (p.Ile404=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002356031] Chr5:112819244 [GRCh38]
Chr5:112154941 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7383A>G (p.Ser2461=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653615]|Hereditary cancer-predisposing syndrome [RCV002380418] Chr5:112842977 [GRCh38]
Chr5:112178674 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7489_7490delinsAA (p.Ser2497Lys) indel Hereditary cancer-predisposing syndrome [RCV002391535] Chr5:112843083..112843084 [GRCh38]
Chr5:112178780..112178781 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7489T>A (p.Ser2497Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534880]|Hereditary cancer-predisposing syndrome [RCV002391538] Chr5:112843083 [GRCh38]
Chr5:112178780 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2649T>A (p.Thr883=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428674] Chr5:112838243 [GRCh38]
Chr5:112173940 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3455del (p.Gln1152fs) deletion Familial adenomatous polyposis 1 [RCV003337396]|Hereditary cancer-predisposing syndrome [RCV002337462] Chr5:112839049 [GRCh38]
Chr5:112174746 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4221T>C (p.Ser1407=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002328044] Chr5:112839815 [GRCh38]
Chr5:112175512 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7002T>G (p.Asn2334Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002364802] Chr5:112842596 [GRCh38]
Chr5:112178293 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4232G>A (p.Ser1411Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743952]|Hereditary cancer-predisposing syndrome [RCV002328135] Chr5:112839826 [GRCh38]
Chr5:112175523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5249T>C (p.Val1750Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340929] Chr5:112840843 [GRCh38]
Chr5:112176540 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5252A>G (p.Gln1751Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340960] Chr5:112840846 [GRCh38]
Chr5:112176543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5574A>C (p.Arg1858=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344709] Chr5:112841168 [GRCh38]
Chr5:112176865 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5658A>C (p.Glu1886Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347296] Chr5:112841252 [GRCh38]
Chr5:112176949 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3920T>G (p.Ile1307Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743919] Chr5:112839514 [GRCh38]
Chr5:112175211 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3281G>A (p.Gly1094Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002445766] Chr5:112838875 [GRCh38]
Chr5:112174572 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2579T>C (p.Leu860Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743853] Chr5:112838173 [GRCh38]
Chr5:112173870 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6091A>T (p.Ser2031Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360059] Chr5:112841685 [GRCh38]
Chr5:112177382 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1566G>C (p.Met522Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405539] Chr5:112827946 [GRCh38]
Chr5:112163643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4928del (p.Cys1643fs) deletion Familial adenomatous polyposis 1 [RCV003337402]|Hereditary cancer-predisposing syndrome [RCV002340742] Chr5:112840522 [GRCh38]
Chr5:112176219 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5229G>T (p.Val1743=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002340827] Chr5:112840823 [GRCh38]
Chr5:112176520 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5637T>C (p.Ala1879=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345108] Chr5:112841231 [GRCh38]
Chr5:112176928 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5648A>G (p.Lys1883Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002345148] Chr5:112841242 [GRCh38]
Chr5:112176939 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1856C>G (p.Thr619Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413095] Chr5:112835063 [GRCh38]
Chr5:112170760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2686G>C (p.Ala896Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002428924] Chr5:112838280 [GRCh38]
Chr5:112173977 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3280G>A (p.Gly1094Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653597]|Hereditary cancer-predisposing syndrome [RCV002445756] Chr5:112838874 [GRCh38]
Chr5:112174571 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2759A>C (p.Asn920Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743852] Chr5:112838353 [GRCh38]
Chr5:112174050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5951A>G (p.Asn1984Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002355993] Chr5:112841545 [GRCh38]
Chr5:112177242 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.577G>T (p.Ala193Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002359714] Chr5:112780835 [GRCh38]
Chr5:112116532 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3326del (p.Gly1109fs) deletion Hereditary cancer-predisposing syndrome [RCV002326425] Chr5:112838919 [GRCh38]
Chr5:112174616 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7027T>G (p.Ser2343Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653612]|Hereditary cancer-predisposing syndrome [RCV002364895] Chr5:112842621 [GRCh38]
Chr5:112178318 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1172T>G (p.Ile391Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743953]|Hereditary cancer-predisposing syndrome [RCV002332326] Chr5:112819204 [GRCh38]
Chr5:112154901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4959A>C (p.Thr1653=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342763] Chr5:112840553 [GRCh38]
Chr5:112176250 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1835dup (p.Leu613fs) duplication Hereditary cancer-predisposing syndrome [RCV002412721] Chr5:112835041..112835042 [GRCh38]
Chr5:112170738..112170739 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1005A>T (p.Leu335=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002412758] Chr5:112819037 [GRCh38]
Chr5:112154734 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5343A>G (p.Gln1781=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776091]|Hereditary cancer-predisposing syndrome [RCV002346905] Chr5:112840937 [GRCh38]
Chr5:112176634 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1086C>A (p.Gly362=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653628]|Hereditary cancer-predisposing syndrome [RCV002425749] Chr5:112819118 [GRCh38]
Chr5:112154815 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2987G>T (p.Ser996Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002442273] Chr5:112838581 [GRCh38]
Chr5:112174278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.411T>G (p.Leu137=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323510] Chr5:112767379 [GRCh38]
Chr5:112103076 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6114G>A (p.Leu2038=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360243] Chr5:112841708 [GRCh38]
Chr5:112177405 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.613_614del (p.Gly205fs) deletion Hereditary cancer-predisposing syndrome [RCV002360343] Chr5:112780871..112780872 [GRCh38]
Chr5:112116568..112116569 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6151A>G (p.Lys2051Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002360438] Chr5:112841745 [GRCh38]
Chr5:112177442 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6155dup (p.Pro2053fs) duplication Hereditary cancer-predisposing syndrome [RCV002360447] Chr5:112841744..112841745 [GRCh38]
Chr5:112177441..112177442 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2164_2165insTCAAGCAA (p.Ser722fs) insertion Hereditary cancer-predisposing syndrome [RCV002432631] Chr5:112837756..112837757 [GRCh38]
Chr5:112173453..112173454 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4806T>A (p.Pro1602=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534867]|Hereditary cancer-predisposing syndrome [RCV002337914] Chr5:112840400 [GRCh38]
Chr5:112176097 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.376_377delinsTT (p.Gly126Leu) indel Familial adenomatous polyposis 1 [RCV003775725]|Hereditary cancer-predisposing syndrome [RCV002363844] Chr5:112767344..112767345 [GRCh38]
Chr5:112103041..112103042 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.216T>G (p.Leu72=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002432725] Chr5:112766406 [GRCh38]
Chr5:112102103 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1579A>T (p.Arg527Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336707]|Hereditary cancer-predisposing syndrome [RCV002405750] Chr5:112827959 [GRCh38]
Chr5:112163656 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4822A>C (p.Lys1608Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338030] Chr5:112840416 [GRCh38]
Chr5:112176113 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4102A>C (p.Thr1368Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323353] Chr5:112839696 [GRCh38]
Chr5:112175393 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1051G>A (p.Gly351Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744044]|Hereditary cancer-predisposing syndrome [RCV002395049] Chr5:112819083 [GRCh38]
Chr5:112154780 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.629T>C (p.Met210Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743915] Chr5:112780887 [GRCh38]
Chr5:112116584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1661G>T (p.Arg554Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003475371]|Hereditary cancer-predisposing syndrome [RCV002395100] Chr5:112828890 [GRCh38]
Chr5:112164587 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7275T>C (p.Ser2425=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002382606] Chr5:112842869 [GRCh38]
Chr5:112178566 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1928C>A (p.Ser643Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410831] Chr5:112835135 [GRCh38]
Chr5:112170832 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4364_4368del (p.Asn1455fs) deletion Hereditary cancer-predisposing syndrome [RCV002332374] Chr5:112839955..112839959 [GRCh38]
Chr5:112175652..112175656 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4961C>G (p.Ala1654Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342801] Chr5:112840555 [GRCh38]
Chr5:112176252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4899A>C (p.Thr1633=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003120926]|Hereditary cancer-predisposing syndrome [RCV002332391] Chr5:112840493 [GRCh38]
Chr5:112176190 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1929C>T (p.Ser643=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742820]|Hereditary cancer-predisposing syndrome [RCV002410850] Chr5:112835136 [GRCh38]
Chr5:112170833 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.5593C>A (p.Leu1865Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344832] Chr5:112841187 [GRCh38]
Chr5:112176884 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5608G>C (p.Asp1870His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002344936] Chr5:112841202 [GRCh38]
Chr5:112176899 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5375A>C (p.Asn1792Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347077] Chr5:112840969 [GRCh38]
Chr5:112176666 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5679A>G (p.Lys1893=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002347397] Chr5:112841273 [GRCh38]
Chr5:112176970 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6877G>T (p.Gly2293Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378011] Chr5:112842471 [GRCh38]
Chr5:112178168 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7600G>C (p.Glu2534Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396180] Chr5:112843194 [GRCh38]
Chr5:112178891 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8240C>G (p.Pro2747Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430129] Chr5:112843834 [GRCh38]
Chr5:112179531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7610C>T (p.Ser2537Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744011]|Hereditary cancer-predisposing syndrome [RCV002396218] Chr5:112843204 [GRCh38]
Chr5:112178901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1671A>G (p.Val557=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002405857] Chr5:112828900 [GRCh38]
Chr5:112164597 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4837C>A (p.Pro1613Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338103] Chr5:112840431 [GRCh38]
Chr5:112176128 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5129T>A (p.Ile1710Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534870]|Hereditary cancer-predisposing syndrome [RCV002338157] Chr5:112840723 [GRCh38]
Chr5:112176420 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4644C>G (p.Asn1548Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330441] Chr5:112840238 [GRCh38]
Chr5:112175935 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-934A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346815] Chr5:112779856 [GRCh38]
Chr5:112115553 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3520G>A (p.Asp1174Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459329] Chr5:112839114 [GRCh38]
Chr5:112174811 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6120G>A (p.Gln2040=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534875]|Hereditary cancer-predisposing syndrome [RCV002360281] Chr5:112841714 [GRCh38]
Chr5:112177411 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8026A>G (p.Thr2676Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743889] Chr5:112843620 [GRCh38]
Chr5:112179317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6400T>G (p.Ser2134Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743920] Chr5:112841994 [GRCh38]
Chr5:112177691 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1123G>T (p.Gly375Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742843]|Hereditary cancer-predisposing syndrome [RCV002442319] Chr5:112819155 [GRCh38]
Chr5:112154852 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.411T>A (p.Leu137=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002323506] Chr5:112767379 [GRCh38]
Chr5:112103076 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6049A>G (p.Thr2017Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743884] Chr5:112841643 [GRCh38]
Chr5:112177340 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4802del (p.Leu1601fs) deletion Hereditary cancer-predisposing syndrome [RCV002337891] Chr5:112840395 [GRCh38]
Chr5:112176092 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7674T>C (p.Leu2558=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400465] Chr5:112843268 [GRCh38]
Chr5:112178965 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7676C>T (p.Pro2559Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400466] Chr5:112843270 [GRCh38]
Chr5:112178967 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7291A>C (p.Arg2431=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744003]|Hereditary cancer-predisposing syndrome [RCV002382687] Chr5:112842885 [GRCh38]
Chr5:112178582 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3604T>G (p.Ser1202Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775678]|Hereditary cancer-predisposing syndrome [RCV002455258] Chr5:112839198 [GRCh38]
Chr5:112174895 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1342C>A (p.Pro448Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653624]|Hereditary cancer-predisposing syndrome [RCV002387740] Chr5:112821925 [GRCh38]
Chr5:112157622 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1345G>T (p.Ala449Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387817] Chr5:112821928 [GRCh38]
Chr5:112157625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2588A>T (p.Tyr863Phe) single nucleotide variant APC-related condition [RCV003418530]|Hereditary cancer-predisposing syndrome [RCV002426104] Chr5:112838182 [GRCh38]
Chr5:112173879 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2588dup (p.Tyr863Ter) duplication Familial adenomatous polyposis 1 [RCV003534898]|Hereditary cancer-predisposing syndrome [RCV002426106] Chr5:112838181..112838182 [GRCh38]
Chr5:112173878..112173879 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7620A>C (p.Pro2540=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396266] Chr5:112843214 [GRCh38]
Chr5:112178911 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6968C>A (p.Ser2323Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378164] Chr5:112842562 [GRCh38]
Chr5:112178259 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7635A>C (p.Gly2545=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396331] Chr5:112843229 [GRCh38]
Chr5:112178926 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3102G>C (p.Glu1034Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743862] Chr5:112838696 [GRCh38]
Chr5:112174393 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5141del (p.Asp1714fs) deletion Hereditary cancer-predisposing syndrome [RCV002338207] Chr5:112840735 [GRCh38]
Chr5:112176432 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4817C>T (p.Ala1606Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002330755] Chr5:112840411 [GRCh38]
Chr5:112176108 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5561A>G (p.Tyr1854Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002352002] Chr5:112841155 [GRCh38]
Chr5:112176852 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3603A>C (p.Ser1201=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002455239] Chr5:112839197 [GRCh38]
Chr5:112174894 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2397T>A (p.Tyr799Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534895]|Hereditary cancer-predisposing syndrome [RCV002459624] Chr5:112837991 [GRCh38]
Chr5:112173688 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2596G>C (p.Ala866Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742834]|Hereditary cancer-predisposing syndrome [RCV002426178] Chr5:112838190 [GRCh38]
Chr5:112173887 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2310A>T (p.Ser770=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742828]|Hereditary cancer-predisposing syndrome [RCV002446434] Chr5:112837904 [GRCh38]
Chr5:112173601 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7612A>C (p.Arg2538=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396225] Chr5:112843206 [GRCh38]
Chr5:112178903 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8263T>C (p.Ser2755Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430199] Chr5:112843857 [GRCh38]
Chr5:112179554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5974C>A (p.Pro1992Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743872] Chr5:112841568 [GRCh38]
Chr5:112177265 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6807T>C (p.Thr2269=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002369517] Chr5:112842401 [GRCh38]
Chr5:112178098 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3116G>T (p.Gly1039Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320438] Chr5:112838710 [GRCh38]
Chr5:112174407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.673G>T (p.Glu225Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534878]|Hereditary cancer-predisposing syndrome [RCV002377942] Chr5:112792473 [GRCh38]
Chr5:112128170 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1302C>T (p.Asp434=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002380875] Chr5:112819334 [GRCh38]
Chr5:112155031 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8006C>T (p.Pro2669Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743928] Chr5:112843600 [GRCh38]
Chr5:112179297 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1856C>T (p.Thr619Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744049]|Hereditary cancer-predisposing syndrome [RCV002413097] Chr5:112835063 [GRCh38]
Chr5:112170760 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1197A>C (p.Arg399Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743904] Chr5:112819229 [GRCh38]
Chr5:112154926 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2607_2608delinsCTTCTTCAAAG (p.Pro870delinsPhePheLysAla) indel Hereditary cancer-predisposing syndrome [RCV002426302] Chr5:112838201..112838202 [GRCh38]
Chr5:112173898..112173899 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.314del (p.Ser105fs) deletion Hereditary cancer-predisposing syndrome [RCV002320800] Chr5:112767282 [GRCh38]
Chr5:112102979 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7660C>A (p.His2554Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396452] Chr5:112843254 [GRCh38]
Chr5:112178951 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8316A>C (p.Ser2772=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430396] Chr5:112843910 [GRCh38]
Chr5:112179607 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7760A>T (p.Glu2587Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409722] Chr5:112843354 [GRCh38]
Chr5:112179051 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7776G>C (p.Val2592=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409784] Chr5:112843370 [GRCh38]
Chr5:112179067 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4866C>G (p.Asn1622Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743892] Chr5:112840460 [GRCh38]
Chr5:112176157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2062_2063del (p.Ala689fs) microsatellite Hereditary cancer-predisposing syndrome [RCV002421993] Chr5:112837652..112837653 [GRCh38]
Chr5:112173349..112173350 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6826C>G (p.Pro2276Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743997]|Hereditary cancer-predisposing syndrome [RCV002369630] Chr5:112842420 [GRCh38]
Chr5:112178117 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1348G>C (p.Val450Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002387879] Chr5:112821931 [GRCh38]
Chr5:112157628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3138T>C (p.Asn1046=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320673] Chr5:112838732 [GRCh38]
Chr5:112174429 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2411A>C (p.Asn804Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002459732] Chr5:112838005 [GRCh38]
Chr5:112173702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.314G>T (p.Ser105Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320812] Chr5:112767282 [GRCh38]
Chr5:112102979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4703A>G (p.Asp1568Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743959]|Hereditary cancer-predisposing syndrome [RCV002335319] Chr5:112840297 [GRCh38]
Chr5:112175994 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7647T>A (p.Arg2549=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776419]|Hereditary cancer-predisposing syndrome [RCV002396378] Chr5:112843241 [GRCh38]
Chr5:112178938 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4157G>A (p.Arg1386Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743923]|Hereditary cancer-predisposing syndrome [RCV003308125] Chr5:112839751 [GRCh38]
Chr5:112175448 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7360A>G (p.Arg2454Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743846] Chr5:112842954 [GRCh38]
Chr5:112178651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3139G>C (p.Glu1047Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320685] Chr5:112838733 [GRCh38]
Chr5:112174430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2307_2308insAA (p.Ser770fs) insertion Hereditary cancer-predisposing syndrome [RCV002446385] Chr5:112837900..112837901 [GRCh38]
Chr5:112173597..112173598 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6898T>G (p.Ser2300Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378037] Chr5:112842492 [GRCh38]
Chr5:112178189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6911C>A (p.Ser2304Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378090] Chr5:112842505 [GRCh38]
Chr5:112178202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6919dup (p.Ser2307fs) duplication Familial adenomatous polyposis 1 [RCV003336569]|Hereditary cancer-predisposing syndrome [RCV002378094] Chr5:112842511..112842512 [GRCh38]
Chr5:112178208..112178209 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3838T>C (p.Leu1280=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775744]|Hereditary cancer-predisposing syndrome [RCV002364048] Chr5:112839432 [GRCh38]
Chr5:112175129 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.483A>C (p.Gln161His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002338111] Chr5:112775689 [GRCh38]
Chr5:112111386 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7712C>A (p.Ser2571Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400650] Chr5:112843306 [GRCh38]
Chr5:112179003 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7716A>T (p.Ser2572=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400658] Chr5:112843310 [GRCh38]
Chr5:112179007 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5013T>G (p.Ala1671=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002343112] Chr5:112840607 [GRCh38]
Chr5:112176304 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1940C>G (p.Ala647Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002413175] Chr5:112835147 [GRCh38]
Chr5:112170844 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3204A>G (p.Ser1068=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002443366] Chr5:112838798 [GRCh38]
Chr5:112174495 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6881G>T (p.Gly2294Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743931] Chr5:112842475 [GRCh38]
Chr5:112178172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8328T>A (p.Thr2776=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653622]|Hereditary cancer-predisposing syndrome [RCV002430447] Chr5:112843922 [GRCh38]
Chr5:112179619 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5020G>C (p.Gly1674Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335575] Chr5:112840614 [GRCh38]
Chr5:112176311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1738A>T (p.Lys580Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002399278] Chr5:112828967 [GRCh38]
Chr5:112164664 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1812T>C (p.Ala604=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410213] Chr5:112835019 [GRCh38]
Chr5:112170716 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1813G>C (p.Asp605His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410226] Chr5:112835020 [GRCh38]
Chr5:112170717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2603A>T (p.Glu868Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002426273] Chr5:112838197 [GRCh38]
Chr5:112173894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1130A>T (p.Lys377Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002320788] Chr5:112819162 [GRCh38]
Chr5:112154859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.825T>G (p.Gly275=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002430190] Chr5:112801374 [GRCh38]
Chr5:112137071 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6990C>T (p.Ser2330=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653611]|Hereditary cancer-predisposing syndrome [RCV002378197] Chr5:112842584 [GRCh38]
Chr5:112178281 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7645C>G (p.Arg2549Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396372] Chr5:112843239 [GRCh38]
Chr5:112178936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-8A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002403309] Chr5:112827921 [GRCh38]
Chr5:112163618 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.7729T>A (p.Ser2577Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002400712] Chr5:112843323 [GRCh38]
Chr5:112179020 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8344A>C (p.Thr2782Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434681] Chr5:112843938 [GRCh38]
Chr5:112179635 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8345_8359dup (p.Tyr2786_Asn2787insThrProPheAsnTyr) duplication Hereditary cancer-predisposing syndrome [RCV002434683] Chr5:112843937..112843938 [GRCh38]
Chr5:112179634..112179635 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4118C>T (p.Pro1373Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743890] Chr5:112839712 [GRCh38]
Chr5:112175409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7240G>C (p.Val2414Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743891] Chr5:112842834 [GRCh38]
Chr5:112178531 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7775T>G (p.Val2592Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002409781] Chr5:112843369 [GRCh38]
Chr5:112179066 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4122del (p.Glu1374fs) deletion Hereditary cancer-predisposing syndrome [RCV002333012] Chr5:112839715 [GRCh38]
Chr5:112175412 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4128T>A (p.Tyr1376Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333038] Chr5:112839722 [GRCh38]
Chr5:112175419 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4142C>T (p.Pro1381Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333155] Chr5:112839736 [GRCh38]
Chr5:112175433 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5864del (p.Ala1955fs) deletion Familial adenomatous polyposis 1 [RCV003337404]|Hereditary cancer-predisposing syndrome [RCV002353427] Chr5:112841458 [GRCh38]
Chr5:112177155 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3468_3472del (p.Glu1157fs) deletion Familial adenomatous polyposis 1 [RCV003336533]|Hereditary cancer-predisposing syndrome [RCV002460247] Chr5:112839059..112839063 [GRCh38]
Chr5:112174756..112174760 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.398_399del (p.Tyr133fs) microsatellite Familial adenomatous polyposis 1 [RCV003337398]|Hereditary cancer-predisposing syndrome [RCV002357738] Chr5:112767364..112767365 [GRCh38]
Chr5:112103061..112103062 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4045C>A (p.His1349Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321234] Chr5:112839639 [GRCh38]
Chr5:112175336 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3630T>C (p.His1210=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003775686]|Hereditary cancer-predisposing syndrome [RCV002460335] Chr5:112839224 [GRCh38]
Chr5:112174921 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.906A>T (p.Arg302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378539] Chr5:112815566 [GRCh38]
Chr5:112151263 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5037A>G (p.Ala1679=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743966]|Hereditary cancer-predisposing syndrome [RCV002335641] Chr5:112840631 [GRCh38]
Chr5:112176328 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5043A>C (p.Ser1681=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743968]|Hereditary cancer-predisposing syndrome [RCV002335674] Chr5:112840637 [GRCh38]
Chr5:112176334 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.169G>A (p.Asp57Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003465733]|Hereditary cancer-predisposing syndrome [RCV002406289] Chr5:112766359 [GRCh38]
Chr5:112102056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5834C>A (p.Ala1945Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353251] Chr5:112841428 [GRCh38]
Chr5:112177125 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7191C>A (p.Ala2397=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002370791] Chr5:112842785 [GRCh38]
Chr5:112178482 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5854del (p.Gln1952fs) deletion Familial adenomatous polyposis 1 [RCV003336559]|Hereditary cancer-predisposing syndrome [RCV002353357] Chr5:112841448 [GRCh38]
Chr5:112177145 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5867T>C (p.Ile1956Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653609]|Hereditary cancer-predisposing syndrome [RCV002353437] Chr5:112841461 [GRCh38]
Chr5:112177158 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3930G>T (p.Lys1310Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357558] Chr5:112839524 [GRCh38]
Chr5:112175221 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4041C>T (p.Ala1347=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321208] Chr5:112839635 [GRCh38]
Chr5:112175332 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.904C>A (p.Arg302=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002378492] Chr5:112815564 [GRCh38]
Chr5:112151261 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2143C>T (p.His715Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742824]|Hereditary cancer-predisposing syndrome [RCV002430585] Chr5:112837737 [GRCh38]
Chr5:112173434 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5835A>G (p.Ala1945=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353255] Chr5:112841429 [GRCh38]
Chr5:112177126 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2761dup (p.Ala921fs) duplication Familial adenomatous polyposis 1 [RCV003742838]|Hereditary cancer-predisposing syndrome [RCV002439509] Chr5:112838354..112838355 [GRCh38]
Chr5:112174051..112174052 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3889G>C (p.Asp1297His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357378] Chr5:112839483 [GRCh38]
Chr5:112175180 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3905T>C (p.Leu1302Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002357483] Chr5:112839499 [GRCh38]
Chr5:112175196 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5504G>A (p.Arg1835Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743924] Chr5:112841098 [GRCh38]
Chr5:112176795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7664C>A (p.Ser2555Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396464] Chr5:112843258 [GRCh38]
Chr5:112178955 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1753C>T (p.Leu585Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653626]|Hereditary cancer-predisposing syndrome [RCV002407536] Chr5:112834960 [GRCh38]
Chr5:112170657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7825A>G (p.Lys2609Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002410000] Chr5:112843419 [GRCh38]
Chr5:112179116 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4152T>C (p.Phe1384=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333255] Chr5:112839746 [GRCh38]
Chr5:112175443 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4153A>G (p.Ser1385Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002333257] Chr5:112839747 [GRCh38]
Chr5:112175444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.250G>A (p.Gly84Arg) single nucleotide variant not specified [RCV002302443] Chr5:112767218 [GRCh38]
Chr5:112102915 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3690G>C (p.Gln1230His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002346731] Chr5:112839284 [GRCh38]
Chr5:112174981 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5053G>A (p.Glu1685Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002335749] Chr5:112840647 [GRCh38]
Chr5:112176344 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1651T>C (p.Leu551=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003774438]|Hereditary cancer-predisposing syndrome [RCV002403671] Chr5:112828880 [GRCh38]
Chr5:112164577 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4633T>A (p.Ser1545Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002342575] Chr5:112840227 [GRCh38]
Chr5:112175924 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4058A>C (p.Glu1353Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321346] Chr5:112839652 [GRCh38]
Chr5:112175349 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5039A>C (p.Gln1680Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743967]|Hereditary cancer-predisposing syndrome [RCV002335648] Chr5:112840633 [GRCh38]
Chr5:112176330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1461G>C (p.Gly487=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002396745] Chr5:112827160 [GRCh38]
Chr5:112162857 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5892T>C (p.Ser1964=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002353592] Chr5:112841486 [GRCh38]
Chr5:112177183 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3920_3921del (p.Ile1307fs) deletion Hereditary cancer-predisposing syndrome [RCV002357534] Chr5:112839513..112839514 [GRCh38]
Chr5:112175210..112175211 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2440_2445del (p.Phe814_Asn815del) deletion Hereditary cancer-predisposing syndrome [RCV002460031] Chr5:112838031..112838036 [GRCh38]
Chr5:112173728..112173733 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8242G>A (p.Val2748Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743930] Chr5:112843836 [GRCh38]
Chr5:112179533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3406G>A (p.Glu1136Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002460194] Chr5:112839000 [GRCh38]
Chr5:112174697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3967G>T (p.Val1323Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002321118] Chr5:112839561 [GRCh38]
Chr5:112175258 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3469_3471del (p.Glu1157del) deletion Hereditary cancer-predisposing syndrome [RCV002460249] Chr5:112839063..112839065 [GRCh38]
Chr5:112174760..112174762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5031del (p.Ala1679fs) deletion Hereditary cancer-predisposing syndrome [RCV002335630] Chr5:112840625 [GRCh38]
Chr5:112176322 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8371A>T (p.Arg2791Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002434780] Chr5:112843965 [GRCh38]
Chr5:112179662 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6778A>C (p.Ser2260Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742957] Chr5:112842372 [GRCh38]
Chr5:112178069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.996A>G (p.Arg332=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743016] Chr5:112819028 [GRCh38]
Chr5:112154725 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1616A>C (p.Asp539Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742937] Chr5:112827996 [GRCh38]
Chr5:112163693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6895C>G (p.Pro2299Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744891] Chr5:112842489 [GRCh38]
Chr5:112178186 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-115T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744878] Chr5:112707603 [GRCh38]
Chr5:112043300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3230_3238del (p.Val1077_Thr1079del) deletion Familial adenomatous polyposis 1 [RCV003534907]|not provided [RCV002481121] Chr5:112838821..112838829 [GRCh38]
Chr5:112174518..112174526 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4905G>T (p.Gly1635=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744849] Chr5:112840499 [GRCh38]
Chr5:112176196 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6323C>G (p.Ala2108Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742950] Chr5:112841917 [GRCh38]
Chr5:112177614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2010dup (p.Ser671fs) duplication Familial adenomatous polyposis 1 [RCV003337417]|Familial adenomatous polyposis 1 [RCV003744846] Chr5:112837600..112837601 [GRCh38]
Chr5:112173297..112173298 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6229A>C (p.Thr2077Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744893] Chr5:112841823 [GRCh38]
Chr5:112177520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7484C>A (p.Thr2495Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742853] Chr5:112843078 [GRCh38]
Chr5:112178775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3624C>G (p.Thr1208=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744840] Chr5:112839218 [GRCh38]
Chr5:112174915 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.539del (p.Leu180fs) deletion Familial adenomatous polyposis 1 [RCV003742920] Chr5:112780796 [GRCh38]
Chr5:112116493 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.140del (p.Ser47fs) deletion Familial adenomatous polyposis 1 [RCV003742864] Chr5:112707857 [GRCh38]
Chr5:112043554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.153A>C (p.Leu51=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742917] Chr5:112766343 [GRCh38]
Chr5:112102040 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3394G>A (p.Glu1132Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744868] Chr5:112838988 [GRCh38]
Chr5:112174685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5115C>A (p.Thr1705=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744848] Chr5:112840709 [GRCh38]
Chr5:112176406 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2705A>G (p.Glu902Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742938] Chr5:112838299 [GRCh38]
Chr5:112173996 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3938C>A (p.Thr1313Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743053] Chr5:112839532 [GRCh38]
Chr5:112175229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7059T>G (p.Thr2353=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742973] Chr5:112842653 [GRCh38]
Chr5:112178350 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.929C>G (p.Thr310Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744912]|Hereditary cancer-predisposing syndrome [RCV003585333] Chr5:112815589 [GRCh38]
Chr5:112151286 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6765T>C (p.Thr2255=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744950] Chr5:112842359 [GRCh38]
Chr5:112178056 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-31T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003776647] Chr5:112707687 [GRCh38]
Chr5:112043384 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7152A>G (p.Leu2384=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742914] Chr5:112842746 [GRCh38]
Chr5:112178443 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2523A>T (p.Leu841Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742863] Chr5:112838117 [GRCh38]
Chr5:112173814 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+20T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003776655] Chr5:112792549 [GRCh38]
Chr5:112128246 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1028G>C (p.Ser343Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744894] Chr5:112819060 [GRCh38]
Chr5:112154757 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7573C>A (p.Arg2525Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744890] Chr5:112843167 [GRCh38]
Chr5:112178864 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2803del (p.Tyr935fs) deletion Familial adenomatous polyposis 1 [RCV003744857] Chr5:112838396 [GRCh38]
Chr5:112174093 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5770A>G (p.Lys1924Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742860] Chr5:112841364 [GRCh38]
Chr5:112177061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-303_1312+190inv inversion Hereditary cancer-predisposing syndrome [RCV002461487] Chr5:112818663..112819534 [GRCh38]
Chr5:112154360..112155231 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6113T>C (p.Leu2038Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742913] Chr5:112841707 [GRCh38]
Chr5:112177404 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5528C>A (p.Pro1843His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742935] Chr5:112841122 [GRCh38]
Chr5:112176819 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7148G>C (p.Gly2383Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744831] Chr5:112842742 [GRCh38]
Chr5:112178439 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+1482A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744965] Chr5:112777219 [GRCh38]
Chr5:112112916 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.253G>A (p.Val85Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744870] Chr5:112767221 [GRCh38]
Chr5:112102918 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8401C>G (p.Arg2801Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776705] Chr5:112843995 [GRCh38]
Chr5:112179692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707368G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743052] Chr5:112707368 [GRCh38]
Chr5:112043065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6480A>T (p.Thr2160=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742923] Chr5:112842074 [GRCh38]
Chr5:112177771 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7987G>A (p.Asp2663Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742896] Chr5:112843581 [GRCh38]
Chr5:112179278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3336A>G (p.Thr1112=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742984] Chr5:112838930 [GRCh38]
Chr5:112174627 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+11A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003743017] Chr5:112815604 [GRCh38]
Chr5:112151301 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.293G>A (p.Ser98Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743047] Chr5:112767261 [GRCh38]
Chr5:112102958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3961A>G (p.Ser1321Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743044] Chr5:112839555 [GRCh38]
Chr5:112175252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3955C>G (p.Pro1319Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003777004] Chr5:112839549 [GRCh38]
Chr5:112175246 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7623C>G (p.Ile2541Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744875] Chr5:112843217 [GRCh38]
Chr5:112178914 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5020G>T (p.Gly1674Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743042] Chr5:112840614 [GRCh38]
Chr5:112176311 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8289T>C (p.Ser2763=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744956] Chr5:112843883 [GRCh38]
Chr5:112179580 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8421T>C (p.Thr2807=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742877] Chr5:112844015 [GRCh38]
Chr5:112179712 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6150del (p.Lys2052fs) deletion Familial adenomatous polyposis 1 [RCV003742960] Chr5:112841744 [GRCh38]
Chr5:112177441 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.157G>C (p.Gly53Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742963] Chr5:112766347 [GRCh38]
Chr5:112102044 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4786del (p.Gln1596fs) deletion Familial adenomatous polyposis 1 [RCV002463411] Chr5:112840378 [GRCh38]
Chr5:112176075 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.5:c.-18_8532del deletion not provided [RCV002481105]   pathogenic
NM_000038.5:c.136_1486del deletion not provided [RCV002481106]   pathogenic
NM_000038.6(APC):c.8204G>A (p.Gly2735Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534908]|not provided [RCV002481122] Chr5:112843798 [GRCh38]
Chr5:112179495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5323C>T (p.Pro1775Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742958] Chr5:112840917 [GRCh38]
Chr5:112176614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.620G>T (p.Cys207Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744957] Chr5:112780878 [GRCh38]
Chr5:112116575 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-6T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653674] Chr5:112827923 [GRCh38]
Chr5:112163620 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6332T>C (p.Ile2111Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744877] Chr5:112841926 [GRCh38]
Chr5:112177623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707347C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003074512] Chr5:112707347 [GRCh38]
Chr5:112043044 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6274C>A (p.Leu2092Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744879]|Hereditary cancer-predisposing syndrome [RCV003308424] Chr5:112841868 [GRCh38]
Chr5:112177565 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2834G>A (p.Arg945Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742921] Chr5:112838428 [GRCh38]
Chr5:112174125 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.561G>A (p.Arg187=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742987] Chr5:112780819 [GRCh38]
Chr5:112116516 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8212A>T (p.Ile2738Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776925] Chr5:112843806 [GRCh38]
Chr5:112179503 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.444T>C (p.Leu148=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743054] Chr5:112775650 [GRCh38]
Chr5:112111347 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707435G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003776708] Chr5:112707435 [GRCh38]
Chr5:112043132 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8088T>C (p.Asp2696=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742978] Chr5:112843682 [GRCh38]
Chr5:112179379 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6216A>G (p.Leu2072=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744923] Chr5:112841810 [GRCh38]
Chr5:112177507 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.9C>G (p.Ala3=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742888] Chr5:112707726 [GRCh38]
Chr5:112043423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+14_220+26del deletion Familial adenomatous polyposis 1 [RCV003743046] Chr5:112766416..112766428 [GRCh38]
Chr5:112102113..112102125 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7920A>G (p.Ser2640=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649407] Chr5:112843514 [GRCh38]
Chr5:112179211 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4771G>A (p.Ala1591Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653650] Chr5:112840365 [GRCh38]
Chr5:112176062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4909G>T (p.Asp1637Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743030] Chr5:112840503 [GRCh38]
Chr5:112176200 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4938G>A (p.Gly1646=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742986] Chr5:112840532 [GRCh38]
Chr5:112176229 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4561G>T (p.Glu1521Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742934] Chr5:112840155 [GRCh38]
Chr5:112175852 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1312+20C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744820] Chr5:112819364 [GRCh38]
Chr5:112155061 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4723C>G (p.Leu1575Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002972193]|Familial adenomatous polyposis 1 [RCV003744841] Chr5:112840317 [GRCh38]
Chr5:112176014 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1579A>C (p.Arg527=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534931] Chr5:112827959 [GRCh38]
Chr5:112163656 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.244_250del (p.Phe82fs) deletion Familial adenomatous polyposis 1 [RCV003744869] Chr5:112767212..112767218 [GRCh38]
Chr5:112102909..112102915 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5524T>G (p.Ser1842Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743051] Chr5:112841118 [GRCh38]
Chr5:112176815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7902T>C (p.Ala2634=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743000] Chr5:112843496 [GRCh38]
Chr5:112179193 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6647C>A (p.Pro2216His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744860] Chr5:112842241 [GRCh38]
Chr5:112177938 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.440A>T (p.Asp147Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744949] Chr5:112775646 [GRCh38]
Chr5:112111343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8120G>A (p.Gly2707Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744847] Chr5:112843714 [GRCh38]
Chr5:112179411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.404A>C (p.Glu135Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742948] Chr5:112767372 [GRCh38]
Chr5:112103069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7882C>T (p.Gln2628Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002971054]|Familial adenomatous polyposis 1 [RCV003744828]|Hereditary cancer-predisposing syndrome [RCV003585321] Chr5:112843476 [GRCh38]
Chr5:112179173 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_001127511.3(APC):c.81C>T (p.Thr27=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742856] Chr5:112707798 [GRCh38]
Chr5:112043495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707394del deletion Familial adenomatous polyposis 1 [RCV002862430] Chr5:112707394 [GRCh38]
Chr5:112043091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6596_6597delinsAC (p.Ile2199Asn) indel Familial adenomatous polyposis 1 [RCV002615454] Chr5:112842190..112842191 [GRCh38]
Chr5:112177887..112177888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8259A>G (p.Glu2753=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743027] Chr5:112843853 [GRCh38]
Chr5:112179550 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3312A>G (p.Ser1104=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743015] Chr5:112838906 [GRCh38]
Chr5:112174603 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7950T>A (p.Ala2650=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742981] Chr5:112843544 [GRCh38]
Chr5:112179241 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8070A>C (p.Ala2690=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742997] Chr5:112843664 [GRCh38]
Chr5:112179361 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-12T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742985] Chr5:112767177 [GRCh38]
Chr5:112102874 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8301A>C (p.Ser2767=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742980]|Hereditary cancer-predisposing syndrome [RCV003167837] Chr5:112843895 [GRCh38]
Chr5:112179592 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6801C>T (p.Ala2267=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649411] Chr5:112842395 [GRCh38]
Chr5:112178092 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6554del (p.Ser2185fs) deletion Familial adenomatous polyposis 1 [RCV003742998] Chr5:112842148 [GRCh38]
Chr5:112177845 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1135G>T (p.Ala379Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534935]|Hereditary cancer-predisposing syndrome [RCV003377863] Chr5:112819167 [GRCh38]
Chr5:112154864 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2195del (p.Asn732fs) deletion Familial adenomatous polyposis 1 [RCV003337416]|not provided [RCV002511443] Chr5:112837787 [GRCh38]
Chr5:112173484 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3574A>C (p.Lys1192Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744892] Chr5:112839168 [GRCh38]
Chr5:112174865 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7198G>C (p.Gly2400Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742852] Chr5:112842792 [GRCh38]
Chr5:112178489 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6785G>C (p.Ser2262Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742956] Chr5:112842379 [GRCh38]
Chr5:112178076 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+11A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742949] Chr5:112822002 [GRCh38]
Chr5:112157699 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5318C>G (p.Thr1773Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742952] Chr5:112840912 [GRCh38]
Chr5:112176609 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707497C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003649410] Chr5:112707497 [GRCh38]
Chr5:112043194 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3261C>T (p.Leu1087=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744850] Chr5:112838855 [GRCh38]
Chr5:112174552 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8460T>G (p.Thr2820=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744919] Chr5:112844054 [GRCh38]
Chr5:112179751 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4760_4767dup (p.Lys1590fs) duplication Familial adenomatous polyposis 1 [RCV003742993] Chr5:112840351..112840352 [GRCh38]
Chr5:112176048..112176049 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1803G>T (p.Glu601Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744896] Chr5:112835010 [GRCh38]
Chr5:112170707 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7135dup (p.Thr2379fs) duplication Familial adenomatous polyposis 1 [RCV002839419]|Familial adenomatous polyposis 1 [RCV003742953] Chr5:112842728..112842729 [GRCh38]
Chr5:112178425..112178426 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3452A>G (p.Glu1151Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742874] Chr5:112839046 [GRCh38]
Chr5:112174743 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707445A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744881] Chr5:112707445 [GRCh38]
Chr5:112043142 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.266C>T (p.Ser89Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744922] Chr5:112767234 [GRCh38]
Chr5:112102931 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-129G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744938] Chr5:112707589 [GRCh38]
Chr5:112043286 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1049C>G (p.Ser350Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742939] Chr5:112819081 [GRCh38]
Chr5:112154778 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4148T>C (p.Met1383Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744852] Chr5:112839742 [GRCh38]
Chr5:112175439 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707492G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003649402] Chr5:112707492 [GRCh38]
Chr5:112043189 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3911T>G (p.Ile1304Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744832] Chr5:112839505 [GRCh38]
Chr5:112175202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1079T>A (p.Leu360Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744882] Chr5:112819111 [GRCh38]
Chr5:112154808 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6623A>G (p.Glu2208Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742871] Chr5:112842217 [GRCh38]
Chr5:112177914 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707416G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742890] Chr5:112707416 [GRCh38]
Chr5:112043113 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6083G>A (p.Ser2028Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776908] Chr5:112841677 [GRCh38]
Chr5:112177374 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2673G>A (p.Met891Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776686] Chr5:112838267 [GRCh38]
Chr5:112173964 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7813C>A (p.Gln2605Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742891] Chr5:112843407 [GRCh38]
Chr5:112179104 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4429C>G (p.Gln1477Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776929]|Hereditary cancer-predisposing syndrome [RCV003308265] Chr5:112840023 [GRCh38]
Chr5:112175720 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7250C>G (p.Ser2417Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744895] Chr5:112842844 [GRCh38]
Chr5:112178541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707419G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743037] Chr5:112707419 [GRCh38]
Chr5:112043116 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6512G>T (p.Gly2171Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742915] Chr5:112842106 [GRCh38]
Chr5:112177803 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5110A>T (p.Lys1704Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743040] Chr5:112840704 [GRCh38]
Chr5:112176401 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3036T>G (p.Asn1012Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744871] Chr5:112838630 [GRCh38]
Chr5:112174327 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3824G>A (p.Ser1275Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742909] Chr5:112839418 [GRCh38]
Chr5:112175115 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.529A>T (p.Asn177Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742906] Chr5:112775735 [GRCh38]
Chr5:112111432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2212_2213del (p.Lys738fs) deletion Familial adenomatous polyposis 1 [RCV003742910] Chr5:112837806..112837807 [GRCh38]
Chr5:112173503..112173504 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2551A>G (p.Ser851Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744937] Chr5:112838145 [GRCh38]
Chr5:112173842 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-20A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742940] Chr5:112821876 [GRCh38]
Chr5:112157573 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2727C>A (p.Thr909=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742992] Chr5:112838321 [GRCh38]
Chr5:112174018 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-4G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744867] Chr5:112828852 [GRCh38]
Chr5:112164549 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1033A>G (p.Ile345Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649406]|Hereditary cancer-predisposing syndrome [RCV003585358] Chr5:112819065 [GRCh38]
Chr5:112154762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.810C>G (p.Asn270Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742951] Chr5:112801359 [GRCh38]
Chr5:112137056 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3521A>G (p.Asp1174Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744866] Chr5:112839115 [GRCh38]
Chr5:112174812 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4692_4695del (p.Asp1565fs) deletion Familial adenomatous polyposis 1 [RCV003744927] Chr5:112840285..112840288 [GRCh38]
Chr5:112175982..112175985 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5051T>A (p.Phe1684Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776819] Chr5:112840645 [GRCh38]
Chr5:112176342 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.519T>C (p.Pro173=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744958]|Hereditary cancer-predisposing syndrome [RCV003170914] Chr5:112775725 [GRCh38]
Chr5:112111422 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5376T>G (p.Asn1792Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744808]|Hereditary cancer-predisposing syndrome [RCV003167944] Chr5:112840970 [GRCh38]
Chr5:112176667 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7326T>A (p.Thr2442=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744865] Chr5:112842920 [GRCh38]
Chr5:112178617 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+20T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744861] Chr5:112766430 [GRCh38]
Chr5:112102127 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6306A>G (p.Lys2102=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744929] Chr5:112841900 [GRCh38]
Chr5:112177597 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2921G>A (p.Gly974Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744821] Chr5:112838515 [GRCh38]
Chr5:112174212 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6217G>A (p.Gly2073Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776940] Chr5:112841811 [GRCh38]
Chr5:112177508 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6503del (p.Leu2168fs) deletion Familial adenomatous polyposis 1 [RCV003742994] Chr5:112842097 [GRCh38]
Chr5:112177794 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5612A>G (p.Asp1871Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744888] Chr5:112841206 [GRCh38]
Chr5:112176903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-124C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534942]|not provided [RCV003319542] Chr5:112707594 [GRCh38]
Chr5:112043291 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.532-8G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742995] Chr5:112780782 [GRCh38]
Chr5:112116479 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.498T>G (p.Thr166=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744966] Chr5:112775704 [GRCh38]
Chr5:112111401 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8436C>A (p.Asn2812Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744987] Chr5:112844030 [GRCh38]
Chr5:112179727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4253T>A (p.Ile1418Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744830] Chr5:112839847 [GRCh38]
Chr5:112175544 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1959-12A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742955] Chr5:112837541 [GRCh38]
Chr5:112173238 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7265C>G (p.Thr2422Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744842] Chr5:112842859 [GRCh38]
Chr5:112178556 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1561T>C (p.Ser521Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744856] Chr5:112827941 [GRCh38]
Chr5:112163638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2241A>C (p.Ser747=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742901] Chr5:112837835 [GRCh38]
Chr5:112173532 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.891A>G (p.Thr297=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744995] Chr5:112815551 [GRCh38]
Chr5:112151248 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.865G>A (p.Ala289Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776915] Chr5:112815525 [GRCh38]
Chr5:112151222 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5103A>G (p.Gln1701=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742899] Chr5:112840697 [GRCh38]
Chr5:112176394 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4637A>G (p.Asn1546Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653675] Chr5:112840231 [GRCh38]
Chr5:112175928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2816A>C (p.Lys939Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744959] Chr5:112838410 [GRCh38]
Chr5:112174107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2478G>A (p.Leu826=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534944] Chr5:112838072 [GRCh38]
Chr5:112173769 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.16G>C (p.Gly6Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743014] Chr5:112707733 [GRCh38]
Chr5:112043430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.135+16del deletion Familial adenomatous polyposis 1 [RCV003776898] Chr5:112755041 [GRCh38]
Chr5:112090738 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1137T>C (p.Ala379=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776854] Chr5:112819169 [GRCh38]
Chr5:112154866 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.897T>A (p.Ser299=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744859] Chr5:112815557 [GRCh38]
Chr5:112151254 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7164C>A (p.Ala2388=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744810] Chr5:112842758 [GRCh38]
Chr5:112178455 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6561A>C (p.Gly2187=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776852] Chr5:112842155 [GRCh38]
Chr5:112177852 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4315C>G (p.Pro1439Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744967]|Hereditary cancer-predisposing syndrome [RCV003585339] Chr5:112839909 [GRCh38]
Chr5:112175606 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2502C>A (p.Ser834=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742908] Chr5:112838096 [GRCh38]
Chr5:112173793 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-113del deletion Familial adenomatous polyposis 1 [RCV003744811] Chr5:112707605 [GRCh38]
Chr5:112043302 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5133del (p.Glu1712fs) deletion Familial adenomatous polyposis 1 [RCV003742990]|Familial multiple polyposis syndrome [RCV003324050] Chr5:112840727 [GRCh38]
Chr5:112176424 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4324C>A (p.Pro1442Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744897] Chr5:112839918 [GRCh38]
Chr5:112175615 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7140A>G (p.Lys2380=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744889] Chr5:112842734 [GRCh38]
Chr5:112178431 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+13T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744962] Chr5:112822004 [GRCh38]
Chr5:112157701 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5474A>C (p.Asp1825Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744864] Chr5:112841068 [GRCh38]
Chr5:112176765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.251G>C (p.Gly84Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744822] Chr5:112767219 [GRCh38]
Chr5:112102916 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6167T>G (p.Leu2056Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776918] Chr5:112841761 [GRCh38]
Chr5:112177458 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-56G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742854] Chr5:112707662 [GRCh38]
Chr5:112043359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707363G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534921] Chr5:112707363 [GRCh38]
Chr5:112043060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3962_3977delinsCTAGG (p.Ser1321fs) indel Familial adenomatous polyposis 1 [RCV003743036] Chr5:112839556..112839571 [GRCh38]
Chr5:112175253..112175268 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2912dup (p.Asp971fs) duplication Familial adenomatous polyposis 1 [RCV003336784]|Familial adenomatous polyposis 1 [RCV003744824] Chr5:112838505..112838506 [GRCh38]
Chr5:112174202..112174203 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1565dup (p.Met522fs) duplication Familial adenomatous polyposis 1 [RCV003336797]|Familial adenomatous polyposis 1 [RCV003744994] Chr5:112827944..112827945 [GRCh38]
Chr5:112163641..112163642 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-23C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003743024] Chr5:112707695 [GRCh38]
Chr5:112043392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6085_6093del (p.2026SLS[1]) deletion Familial adenomatous polyposis 1 [RCV003742907] Chr5:112841676..112841684 [GRCh38]
Chr5:112177373..112177381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6961A>G (p.Ile2321Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744858] Chr5:112842555 [GRCh38]
Chr5:112178252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1288G>A (p.Gly430Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744982] Chr5:112819320 [GRCh38]
Chr5:112155017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1432T>G (p.Leu478Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744883] Chr5:112827131 [GRCh38]
Chr5:112162828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4785C>G (p.Ala1595=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744968] Chr5:112840379 [GRCh38]
Chr5:112176076 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4928G>C (p.Cys1643Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744845] Chr5:112840522 [GRCh38]
Chr5:112176219 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5990G>T (p.Gly1997Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744887] Chr5:112841584 [GRCh38]
Chr5:112177281 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4979_4982dup (p.Ile1662fs) duplication Familial adenomatous polyposis 1 [RCV003336805] Chr5:112840571..112840572 [GRCh38]
Chr5:112176268..112176269 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.220+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745003] Chr5:112766411 [GRCh38]
Chr5:112102108 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2328A>C (p.Ile776=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653662] Chr5:112837922 [GRCh38]
Chr5:112173619 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6720C>A (p.Ser2240=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742889] Chr5:112842314 [GRCh38]
Chr5:112178011 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6168C>T (p.Leu2056=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003081463] Chr5:112841762 [GRCh38]
Chr5:112177459 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-15G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742862] Chr5:112707703 [GRCh38]
Chr5:112043400 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4103C>T (p.Thr1368Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745022]|Hereditary cancer-predisposing syndrome [RCV003274167] Chr5:112839697 [GRCh38]
Chr5:112175394 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-11T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744961] Chr5:112815484 [GRCh38]
Chr5:112151181 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8338A>T (p.Arg2780Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742982] Chr5:112843932 [GRCh38]
Chr5:112179629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8440_8448del (p.Lys2814_Arg2816del) deletion Familial adenomatous polyposis 1 [RCV003744988] Chr5:112844033..112844041 [GRCh38]
Chr5:112179730..112179738 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707450G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002621186] Chr5:112707450 [GRCh38]
Chr5:112043147 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3524A>T (p.Gln1175Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744827] Chr5:112839118 [GRCh38]
Chr5:112174815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5645_5647del (p.Arg1882del) deletion Familial adenomatous polyposis 1 [RCV003744925] Chr5:112841237..112841239 [GRCh38]
Chr5:112176934..112176936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.162G>A (p.Trp54Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742859] Chr5:112707879 [GRCh38]
Chr5:112043576 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707410_112707412del deletion Familial adenomatous polyposis 1 [RCV003744817] Chr5:112707410..112707412 [GRCh38]
Chr5:112043107..112043109 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3528T>C (p.Pro1176=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742996] Chr5:112839122 [GRCh38]
Chr5:112174819 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1784del (p.Leu595fs) deletion Familial adenomatous polyposis 1 [RCV003649405] Chr5:112834989 [GRCh38]
Chr5:112170686 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-73C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003776868] Chr5:112707645 [GRCh38]
Chr5:112043342 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3412G>A (p.Asp1138Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744812] Chr5:112839006 [GRCh38]
Chr5:112174703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112036100)_(112045850_?)del deletion Familial multiple polyposis syndrome [RCV002510373] Chr5:112036100..112045850 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7132C>T (p.Leu2378Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534936] Chr5:112842726 [GRCh38]
Chr5:112178423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+16G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653653] Chr5:112766426 [GRCh38]
Chr5:112102123 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744862] Chr5:112801399 [GRCh38]
Chr5:112137096 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.522A>G (p.Leu174=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743009] Chr5:112775728 [GRCh38]
Chr5:112111425 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-25G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653661] Chr5:112707693 [GRCh38]
Chr5:112043390 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1648A>T (p.Asn550Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742954] Chr5:112828877 [GRCh38]
Chr5:112164574 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-105G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534932] Chr5:112707613 [GRCh38]
Chr5:112043310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.65A>G (p.Asn22Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649401] Chr5:112754955 [GRCh38]
Chr5:112090652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3691_3692insA (p.Leu1231fs) insertion Familial adenomatous polyposis 1 [RCV003743010] Chr5:112839285..112839286 [GRCh38]
Chr5:112174982..112174983 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1962A>T (p.Gln654His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742898] Chr5:112837556 [GRCh38]
Chr5:112173253 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.435T>C (p.Leu145=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745002] Chr5:112775641 [GRCh38]
Chr5:112111338 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1785G>A (p.Leu595=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742876] Chr5:112834992 [GRCh38]
Chr5:112170689 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4879C>T (p.Gln1627Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336789]|Familial adenomatous polyposis 1 [RCV003744876] Chr5:112840473 [GRCh38]
Chr5:112176170 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.834+12A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003534938] Chr5:112801395 [GRCh38]
Chr5:112137092 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-93G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744900] Chr5:112707625 [GRCh38]
Chr5:112043322 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1653G>A (p.Leu551=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744855] Chr5:112828882 [GRCh38]
Chr5:112164579 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4396G>T (p.Gly1466Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742894] Chr5:112839990 [GRCh38]
Chr5:112175687 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6710G>C (p.Arg2237Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744872] Chr5:112842304 [GRCh38]
Chr5:112178001 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-13C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003743008] Chr5:112827095 [GRCh38]
Chr5:112162792 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4929T>G (p.Cys1643Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV002825064]|Familial adenomatous polyposis 1 [RCV003742900] Chr5:112840523 [GRCh38]
Chr5:112176220 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.81del (p.Gly28fs) deletion Familial adenomatous polyposis 1 [RCV003742866] Chr5:112707797 [GRCh38]
Chr5:112043494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3148G>T (p.Ala1050Ser) single nucleotide variant not provided [RCV003036977] Chr5:112838742 [GRCh38]
Chr5:112174439 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707426A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653676] Chr5:112707426 [GRCh38]
Chr5:112043123 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6410C>G (p.Ser2137Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744814] Chr5:112842004 [GRCh38]
Chr5:112177701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-10del deletion Familial adenomatous polyposis 1 [RCV003534941] Chr5:112821883 [GRCh38]
Chr5:112157580 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.6181G>C (p.Glu2061Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744898]|Hereditary cancer-predisposing syndrome [RCV003170886] Chr5:112841775 [GRCh38]
Chr5:112177472 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7340C>T (p.Ala2447Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776747] Chr5:112842934 [GRCh38]
Chr5:112178631 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2162G>T (p.Gly721Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743049] Chr5:112837756 [GRCh38]
Chr5:112173453 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8395T>A (p.Ser2799Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744983] Chr5:112843989 [GRCh38]
Chr5:112179686 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.112G>A (p.Glu38Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649413] Chr5:112755002 [GRCh38]
Chr5:112090699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5937C>T (p.Asn1979=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743018] Chr5:112841531 [GRCh38]
Chr5:112177228 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5803C>G (p.Gln1935Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742893] Chr5:112841397 [GRCh38]
Chr5:112177094 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-14_646-13del deletion Familial adenomatous polyposis 1 [RCV003742989] Chr5:112792432..112792433 [GRCh38]
Chr5:112128129..112128130 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-14C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744839]|not specified [RCV003320906] Chr5:112801265 [GRCh38]
Chr5:112136962 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1959-7A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003776805] Chr5:112837546 [GRCh38]
Chr5:112173243 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8391C>T (p.Ser2797=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743005] Chr5:112843985 [GRCh38]
Chr5:112179682 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.86del (p.Gly29fs) deletion Familial adenomatous polyposis 1 [RCV003744874] Chr5:112707802 [GRCh38]
Chr5:112043499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8448A>T (p.Arg2816=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744989] Chr5:112844042 [GRCh38]
Chr5:112179739 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5558C>T (p.Pro1853Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744990] Chr5:112841152 [GRCh38]
Chr5:112176849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.555C>T (p.Thr185=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742988] Chr5:112780813 [GRCh38]
Chr5:112116510 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7807G>C (p.Glu2603Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776849] Chr5:112843401 [GRCh38]
Chr5:112179098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3209dup (p.Asn1070fs) duplication Familial adenomatous polyposis 1 [RCV002885289]|Familial adenomatous polyposis 1 [RCV003743020] Chr5:112838801..112838802 [GRCh38]
Chr5:112174498..112174499 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.24G>A (p.Gln8=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776559] Chr5:112754914 [GRCh38]
Chr5:112090611 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6969T>A (p.Ser2323=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742974] Chr5:112842563 [GRCh38]
Chr5:112178260 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-15T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003776955]|Hereditary cancer-predisposing syndrome [RCV003585293] Chr5:112834936 [GRCh38]
Chr5:112170633 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1833T>C (p.Gly611=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776561] Chr5:112835040 [GRCh38]
Chr5:112170737 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-4A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744924] Chr5:112775625 [GRCh38]
Chr5:112111322 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2489T>C (p.Val830Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776866] Chr5:112838083 [GRCh38]
Chr5:112173780 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3198A>G (p.Arg1066=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745025] Chr5:112838792 [GRCh38]
Chr5:112174489 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5500G>C (p.Val1834Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742875] Chr5:112841094 [GRCh38]
Chr5:112176791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5499A>T (p.Arg1833Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653663]|Hereditary cancer-predisposing syndrome [RCV003274217]|not provided [RCV003443123] Chr5:112841093 [GRCh38]
Chr5:112176790 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8202A>C (p.Lys2734Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744986] Chr5:112843796 [GRCh38]
Chr5:112179493 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7071G>C (p.Lys2357Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649412] Chr5:112842665 [GRCh38]
Chr5:112178362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+45_1743+133del deletion Familial adenomatous polyposis 1 [RCV003534919] Chr5:112828991..112829079 [GRCh38]
Chr5:112164688..112164776 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4149G>C (p.Met1383Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742892] Chr5:112839743 [GRCh38]
Chr5:112175440 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4719A>C (p.Glu1573Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534923] Chr5:112840313 [GRCh38]
Chr5:112176010 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3097G>C (p.Asp1033His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534916] Chr5:112838691 [GRCh38]
Chr5:112174388 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+19A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744837] Chr5:112780922 [GRCh38]
Chr5:112116619 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3099T>C (p.Asp1033=) single nucleotide variant Familial adenomatous polyposis 1 [RCV002639912] Chr5:112838693 [GRCh38]
Chr5:112174390 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6201T>A (p.Asn2067Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744991] Chr5:112841795 [GRCh38]
Chr5:112177492 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2934A>T (p.Gln978His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002510240] Chr5:112838528 [GRCh38]
Chr5:112174225 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112766352_112766353insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT insertion Familial adenomatous polyposis 1 [RCV003744838] Chr5:112766307..112766308 [GRCh38]
Chr5:112102004..112102005 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4633T>G (p.Ser1545Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776839] Chr5:112840227 [GRCh38]
Chr5:112175924 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1683G>C (p.Lys561Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776669] Chr5:112828912 [GRCh38]
Chr5:112164609 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5397A>G (p.Leu1799=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534922] Chr5:112840991 [GRCh38]
Chr5:112176688 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7042A>T (p.Thr2348Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742861] Chr5:112842636 [GRCh38]
Chr5:112178333 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2326A>G (p.Ile776Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534915]|not provided [RCV003322929] Chr5:112837920 [GRCh38]
Chr5:112173617 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5013T>C (p.Ala1671=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745001] Chr5:112840607 [GRCh38]
Chr5:112176304 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.31G>T (p.Ala11Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653660] Chr5:112707748 [GRCh38]
Chr5:112043445 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3347G>T (p.Gly1116Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742959] Chr5:112838941 [GRCh38]
Chr5:112174638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4581A>C (p.Pro1527=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744873] Chr5:112840175 [GRCh38]
Chr5:112175872 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-5A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003743021] Chr5:112766321 [GRCh38]
Chr5:112102018 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3432T>C (p.Ser1144=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776726] Chr5:112839026 [GRCh38]
Chr5:112174723 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7598C>T (p.Ser2533Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743035] Chr5:112843192 [GRCh38]
Chr5:112178889 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7395_7396dup (p.Ser2466fs) duplication Familial adenomatous polyposis 1 [RCV003000037]|Familial adenomatous polyposis 1 [RCV003744853] Chr5:112842987..112842988 [GRCh38]
Chr5:112178684..112178685 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5521G>C (p.Asp1841His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743038] Chr5:112841115 [GRCh38]
Chr5:112176812 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4199C>A (p.Ser1400Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337419] Chr5:112839793 [GRCh38]
Chr5:112175490 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6856G>T (p.Ala2286Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744964] Chr5:112842450 [GRCh38]
Chr5:112178147 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.858T>G (p.His286Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742855] Chr5:112815518 [GRCh38]
Chr5:112151215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7017T>A (p.Pro2339=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744843] Chr5:112842611 [GRCh38]
Chr5:112178308 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-81A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744969] Chr5:112707637 [GRCh38]
Chr5:112043334 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3389G>A (p.Cys1130Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744931] Chr5:112838983 [GRCh38]
Chr5:112174680 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6839C>T (p.Ser2280Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744904] Chr5:112842433 [GRCh38]
Chr5:112178130 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.618C>T (p.Thr206=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742849] Chr5:112780876 [GRCh38]
Chr5:112116573 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5783A>C (p.Gln1928Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742872] Chr5:112841377 [GRCh38]
Chr5:112177074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6236A>G (p.Asp2079Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742945] Chr5:112841830 [GRCh38]
Chr5:112177527 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5953G>T (p.Glu1985Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745540] Chr5:112841547 [GRCh38]
Chr5:112177244 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7090A>G (p.Met2364Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534924] Chr5:112842684 [GRCh38]
Chr5:112178381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7661A>G (p.His2554Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744826] Chr5:112843255 [GRCh38]
Chr5:112178952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4963A>C (p.Thr1655Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776978] Chr5:112840557 [GRCh38]
Chr5:112176254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+18G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743011] Chr5:112766428 [GRCh38]
Chr5:112102125 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7460C>T (p.Ser2487Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653655] Chr5:112843054 [GRCh38]
Chr5:112178751 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4508C>T (p.Ser1503Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776565] Chr5:112840102 [GRCh38]
Chr5:112175799 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8254A>T (p.Asn2752Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744944] Chr5:112843848 [GRCh38]
Chr5:112179545 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7851A>C (p.Glu2617Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742946] Chr5:112843445 [GRCh38]
Chr5:112179142 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.721G>T (p.Glu241Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742873] Chr5:112792521 [GRCh38]
Chr5:112128218 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4864_4875del (p.Asn1622_Gln1625del) deletion Familial adenomatous polyposis 1 [RCV003744942] Chr5:112840455..112840466 [GRCh38]
Chr5:112176152..112176163 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7141C>G (p.Gln2381Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003475394]|Hereditary cancer-predisposing syndrome [RCV003348854] Chr5:112842735 [GRCh38]
Chr5:112178432 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707465C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003743028] Chr5:112707465 [GRCh38]
Chr5:112043162 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5607T>C (p.Asp1869=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745009] Chr5:112841201 [GRCh38]
Chr5:112176898 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.601G>T (p.Glu201Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745546] Chr5:112780859 [GRCh38]
Chr5:112116556 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.646-2A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003322639] Chr5:112792444 [GRCh38]
Chr5:112128141 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.2523dup (p.Asp842fs) duplication Familial adenomatous polyposis 1 [RCV003534958] Chr5:112838116..112838117 [GRCh38]
Chr5:112173813..112173814 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5804A>C (p.Gln1935Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742878] Chr5:112841398 [GRCh38]
Chr5:112177095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134_-133insGCGCTGCT insertion Familial adenomatous polyposis 1 [RCV003745538] Chr5:112707577..112707578 [GRCh38]
Chr5:112043274..112043275 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6560G>C (p.Gly2187Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV002644476]|Familial adenomatous polyposis 1 [RCV003534947] Chr5:112842154 [GRCh38]
Chr5:112177851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1497A>G (p.Arg499=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776615] Chr5:112827196 [GRCh38]
Chr5:112162893 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2338A>T (p.Ser780Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744971] Chr5:112837932 [GRCh38]
Chr5:112173629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7680A>T (p.Arg2560=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776974] Chr5:112843274 [GRCh38]
Chr5:112178971 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-117G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744825] Chr5:112707601 [GRCh38]
Chr5:112043298 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4289C>A (p.Thr1430Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744844] Chr5:112839883 [GRCh38]
Chr5:112175580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6150G>A (p.Lys2050=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742961] Chr5:112841744 [GRCh38]
Chr5:112177441 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.213T>C (p.Arg71=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742977] Chr5:112766403 [GRCh38]
Chr5:112102100 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+20C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003776987] Chr5:112828026 [GRCh38]
Chr5:112163723 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2246T>C (p.Leu749Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744905] Chr5:112837840 [GRCh38]
Chr5:112173537 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2050T>C (p.Leu684=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744834]|Hereditary cancer-predisposing syndrome [RCV003585322] Chr5:112837644 [GRCh38]
Chr5:112173341 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.645+10T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742879] Chr5:112780913 [GRCh38]
Chr5:112116610 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-2A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003742975] Chr5:112834949 [GRCh38]
Chr5:112170646 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.341C>A (p.Pro114His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743039] Chr5:112767309 [GRCh38]
Chr5:112103006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2338A>C (p.Ser780Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744992] Chr5:112837932 [GRCh38]
Chr5:112173629 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-13T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742976] Chr5:112821883 [GRCh38]
Chr5:112157580 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2906G>A (p.Ser969Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742966] Chr5:112838500 [GRCh38]
Chr5:112174197 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2145C>G (p.His715Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745006] Chr5:112837739 [GRCh38]
Chr5:112173436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7163C>T (p.Ala2388Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744806] Chr5:112842757 [GRCh38]
Chr5:112178454 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.25T>C (p.Leu9=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743026] Chr5:112754915 [GRCh38]
Chr5:112090612 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1824T>C (p.Ala608=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776658] Chr5:112835031 [GRCh38]
Chr5:112170728 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5689C>G (p.His1897Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742850]|Hereditary cancer-predisposing syndrome [RCV003308244] Chr5:112841283 [GRCh38]
Chr5:112176980 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.299A>T (p.Glu100Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745027] Chr5:112767267 [GRCh38]
Chr5:112102964 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.104C>G (p.Thr35Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742933] Chr5:112754994 [GRCh38]
Chr5:112090691 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6935C>G (p.Pro2312Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776829] Chr5:112842529 [GRCh38]
Chr5:112178226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2529_2530dup (p.Ser844fs) duplication Familial adenomatous polyposis 1 [RCV003744805] Chr5:112838122..112838123 [GRCh38]
Chr5:112173819..112173820 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3991A>C (p.Arg1331=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745537] Chr5:112839585 [GRCh38]
Chr5:112175282 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4609A>C (p.Thr1537Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744909] Chr5:112840203 [GRCh38]
Chr5:112175900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2764_2765insCT (p.Leu922fs) insertion Familial adenomatous polyposis 1 [RCV003336794]|Familial adenomatous polyposis 1 [RCV003744911] Chr5:112838358..112838359 [GRCh38]
Chr5:112174055..112174056 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1626+10A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742857] Chr5:112828016 [GRCh38]
Chr5:112163713 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707430A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745011] Chr5:112707430 [GRCh38]
Chr5:112043127 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.48G>C (p.Leu16=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743007] Chr5:112754938 [GRCh38]
Chr5:112090635 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.832C>A (p.Gln278Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534953] Chr5:112801381 [GRCh38]
Chr5:112137078 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1180_1181del (p.Gln394fs) microsatellite Familial adenomatous polyposis 1 [RCV002664373]|Familial adenomatous polyposis 1 [RCV003534954] Chr5:112819210..112819211 [GRCh38]
Chr5:112154907..112154908 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.40C>G (p.Pro14Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744993] Chr5:112707757 [GRCh38]
Chr5:112043454 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-122_-94dup duplication Familial adenomatous polyposis 1 [RCV003745005] Chr5:112707590..112707591 [GRCh38]
Chr5:112043287..112043288 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707497C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745013] Chr5:112707497 [GRCh38]
Chr5:112043194 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3213A>C (p.Gln1071His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776758] Chr5:112838807 [GRCh38]
Chr5:112174504 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2432C>G (p.Ser811Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534956] Chr5:112838026 [GRCh38]
Chr5:112173723 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2449G>C (p.Gly817Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742919] Chr5:112838043 [GRCh38]
Chr5:112173740 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.399T>G (p.Tyr133Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV002640740]|Familial adenomatous polyposis 1 [RCV003534949] Chr5:112767367 [GRCh38]
Chr5:112103064 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4436T>C (p.Val1479Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744829]|Hereditary cancer-predisposing syndrome [RCV003170730] Chr5:112840030 [GRCh38]
Chr5:112175727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7230C>G (p.Ala2410=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742991] Chr5:112842824 [GRCh38]
Chr5:112178521 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2879del (p.Ser959_Ser960insTer) deletion Familial adenomatous polyposis 1 [RCV003745028] Chr5:112838473 [GRCh38]
Chr5:112174170 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2039C>T (p.Ala680Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742881] Chr5:112837633 [GRCh38]
Chr5:112173330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2522T>G (p.Leu841Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534957] Chr5:112838116 [GRCh38]
Chr5:112173813 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.271A>T (p.Met91Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742858] Chr5:112767239 [GRCh38]
Chr5:112102936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6075T>C (p.Ser2025=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742904] Chr5:112841669 [GRCh38]
Chr5:112177366 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7215TAATGG[1] (p.2406NG[1]) microsatellite Familial adenomatous polyposis 1 [RCV003534920] Chr5:112842809..112842814 [GRCh38]
Chr5:112178506..112178511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1635_1636delinsAT (p.Ser546Cys) indel Familial adenomatous polyposis 1 [RCV003742943] Chr5:112828864..112828865 [GRCh38]
Chr5:112164561..112164562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707423A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003776740] Chr5:112707423 [GRCh38]
Chr5:112043120 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.909del (p.Arg303fs) deletion Familial adenomatous polyposis 1 [RCV003059513]|Familial adenomatous polyposis 1 [RCV003744970] Chr5:112815568 [GRCh38]
Chr5:112151265 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.933+10G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003776613] Chr5:112815603 [GRCh38]
Chr5:112151300 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2471C>G (p.Pro824Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649398] Chr5:112838065 [GRCh38]
Chr5:112173762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6964C>G (p.Gln2322Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744952] Chr5:112842558 [GRCh38]
Chr5:112178255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-167G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534928] Chr5:112707551 [GRCh38]
Chr5:112043248 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.633A>G (p.Glu211=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742999] Chr5:112780891 [GRCh38]
Chr5:112116588 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2508A>G (p.Ser836=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744816] Chr5:112838102 [GRCh38]
Chr5:112173799 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2220del (p.Asn741fs) deletion Familial adenomatous polyposis 1 [RCV003742983] Chr5:112837813 [GRCh38]
Chr5:112173510 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2050_2051del (p.Leu684fs) deletion Familial adenomatous polyposis 1 [RCV002664375]|Familial adenomatous polyposis 1 [RCV003534955] Chr5:112837643..112837644 [GRCh38]
Chr5:112173340..112173341 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3452A>T (p.Glu1151Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742962] Chr5:112839046 [GRCh38]
Chr5:112174743 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2971G>C (p.Glu991Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742947] Chr5:112838565 [GRCh38]
Chr5:112174262 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5041T>G (p.Ser1681Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742936]|Hereditary cancer-predisposing syndrome [RCV003308302] Chr5:112840635 [GRCh38]
Chr5:112176332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-17A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653649] Chr5:112780773 [GRCh38]
Chr5:112116470 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.630G>A (p.Met210Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776759] Chr5:112780888 [GRCh38]
Chr5:112116585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.30C>G (p.Val10=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743001] Chr5:112707747 [GRCh38]
Chr5:112043444 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3163ATA[1] (p.Ile1056del) microsatellite Familial adenomatous polyposis 1 [RCV003742926] Chr5:112838757..112838759 [GRCh38]
Chr5:112174454..112174456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6868T>C (p.Ser2290Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745007] Chr5:112842462 [GRCh38]
Chr5:112178159 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4315C>T (p.Pro1439Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744807] Chr5:112839909 [GRCh38]
Chr5:112175606 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6689T>C (p.Met2230Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745004] Chr5:112842283 [GRCh38]
Chr5:112177980 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6296T>C (p.Phe2099Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534946] Chr5:112841890 [GRCh38]
Chr5:112177587 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4512del (p.Ser1505fs) deletion Familial adenomatous polyposis 1 [RCV003744946] Chr5:112840105 [GRCh38]
Chr5:112175802 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-49G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003776786] Chr5:112707669 [GRCh38]
Chr5:112043366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7259C>T (p.Ser2420Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744813] Chr5:112842853 [GRCh38]
Chr5:112178550 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1745A>G (p.Glu582Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742924] Chr5:112834952 [GRCh38]
Chr5:112170649 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5579A>G (p.Asp1860Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744903] Chr5:112841173 [GRCh38]
Chr5:112176870 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7010G>T (p.Ser2337Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743043] Chr5:112842604 [GRCh38]
Chr5:112178301 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+9C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743029] Chr5:112775746 [GRCh38]
Chr5:112111443 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-17T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743045] Chr5:112766309 [GRCh38]
Chr5:112102006 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3462AGA[1] (p.Glu1156_Glu1157del) microsatellite Familial adenomatous polyposis 1 [RCV003534910] Chr5:112839054..112839059 [GRCh38]
Chr5:112174751..112174756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8081_8083del (p.Ile2694del) deletion Familial adenomatous polyposis 1 [RCV003744977] Chr5:112843674..112843676 [GRCh38]
Chr5:112179371..112179373 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-72C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003743003] Chr5:112707646 [GRCh38]
Chr5:112043343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV002640741]|Familial adenomatous polyposis 1 [RCV003534950] Chr5:112767391 [GRCh38]
Chr5:112103088 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.423-1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534951]|not provided [RCV003477054] Chr5:112775628 [GRCh38]
Chr5:112111325 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.166G>A (p.Glu56Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776794] Chr5:112766356 [GRCh38]
Chr5:112102053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707460C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745010] Chr5:112707460 [GRCh38]
Chr5:112043157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5239A>G (p.Met1747Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742882] Chr5:112840833 [GRCh38]
Chr5:112176530 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3532G>A (p.Asp1178Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744863] Chr5:112839126 [GRCh38]
Chr5:112174823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1303A>G (p.Lys435Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649397] Chr5:112819335 [GRCh38]
Chr5:112155032 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5224C>G (p.Arg1742Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744935] Chr5:112840818 [GRCh38]
Chr5:112176515 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548+3A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003776965]|Hereditary cancer-predisposing syndrome [RCV003308278] Chr5:112827250 [GRCh38]
Chr5:112162947 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5300G>T (p.Gly1767Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744936] Chr5:112840894 [GRCh38]
Chr5:112176591 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3337A>G (p.Asn1113Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742932] Chr5:112838931 [GRCh38]
Chr5:112174628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3463G>T (p.Glu1155Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534960] Chr5:112839057 [GRCh38]
Chr5:112174754 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4784C>T (p.Ala1595Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742848] Chr5:112840378 [GRCh38]
Chr5:112176075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3572A>G (p.Gln1191Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742880]|Hereditary cancer-predisposing syndrome [RCV003348919] Chr5:112839166 [GRCh38]
Chr5:112174863 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3317dup (p.Ala1107fs) duplication Familial adenomatous polyposis 1 [RCV002664376]|Familial adenomatous polyposis 1 [RCV003534959] Chr5:112838907..112838908 [GRCh38]
Chr5:112174604..112174605 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3153A>G (p.Arg1051=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745012] Chr5:112838747 [GRCh38]
Chr5:112174444 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6926C>A (p.Pro2309His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744886] Chr5:112842520 [GRCh38]
Chr5:112178217 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707483A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003776881] Chr5:112707483 [GRCh38]
Chr5:112043180 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5366T>G (p.Val1789Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744943] Chr5:112840960 [GRCh38]
Chr5:112176657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3511C>G (p.Arg1171Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742944] Chr5:112839105 [GRCh38]
Chr5:112174802 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-12G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003534912] Chr5:112792434 [GRCh38]
Chr5:112128131 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+21dup duplication Familial adenomatous polyposis 1 [RCV003743002] Chr5:112707901..112707902 [GRCh38]
Chr5:112043598..112043599 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3194A>G (p.Gln1065Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745008] Chr5:112838788 [GRCh38]
Chr5:112174485 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.170A>C (p.Asp57Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742942] Chr5:112766360 [GRCh38]
Chr5:112102057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707447C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744818] Chr5:112707447 [GRCh38]
Chr5:112043144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707360G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744910] Chr5:112707360 [GRCh38]
Chr5:112043057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2307dup (p.Ser770fs) duplication Familial adenomatous polyposis 1 [RCV002894139]|Familial adenomatous polyposis 1 [RCV003743004] Chr5:112837900..112837901 [GRCh38]
Chr5:112173597..112173598 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3160C>G (p.His1054Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534945] Chr5:112838754 [GRCh38]
Chr5:112174451 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707464G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003084353] Chr5:112707464 [GRCh38]
Chr5:112043161 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2905A>C (p.Ser969Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742883] Chr5:112838499 [GRCh38]
Chr5:112174196 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.65A>C (p.Asn22Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742867] Chr5:112754955 [GRCh38]
Chr5:112090652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1205G>T (p.Arg402Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744932] Chr5:112819237 [GRCh38]
Chr5:112154934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5895_5896del (p.His1965fs) deletion Familial adenomatous polyposis 1 [RCV003743019] Chr5:112841488..112841489 [GRCh38]
Chr5:112177185..112177186 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.824del (p.Gly275fs) deletion Familial adenomatous polyposis 1 [RCV003534952] Chr5:112801372 [GRCh38]
Chr5:112137069 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1370del (p.Ser457fs) deletion Familial adenomatous polyposis 1 [RCV003336809] Chr5:112821953 [GRCh38]
Chr5:112157650 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5819_5823del (p.Ile1940fs) deletion Familial adenomatous polyposis 1 [RCV003776646] Chr5:112841411..112841415 [GRCh38]
Chr5:112177108..112177112 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6616A>T (p.Asn2206Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745536] Chr5:112842210 [GRCh38]
Chr5:112177907 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2770A>G (p.Arg924Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742905]|Hereditary cancer-predisposing syndrome [RCV003585297] Chr5:112838364 [GRCh38]
Chr5:112174061 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4096G>C (p.Ala1366Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742918] Chr5:112839690 [GRCh38]
Chr5:112175387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707321A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744947] Chr5:112707321 [GRCh38]
Chr5:112043018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-161T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745016] Chr5:112707557 [GRCh38]
Chr5:112043254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7638C>G (p.Thr2546=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744945] Chr5:112843232 [GRCh38]
Chr5:112178929 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7530T>C (p.Asn2510=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776643] Chr5:112843124 [GRCh38]
Chr5:112178821 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-19del deletion Familial adenomatous polyposis 1 [RCV003653645] Chr5:112792426 [GRCh38]
Chr5:112128123 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6899C>T (p.Ser2300Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744975] Chr5:112842493 [GRCh38]
Chr5:112178190 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7184A>G (p.Glu2395Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742903] Chr5:112842778 [GRCh38]
Chr5:112178475 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1484_1488del (p.Ile495fs) deletion Familial adenomatous polyposis 1 [RCV003744984] Chr5:112827182..112827186 [GRCh38]
Chr5:112162879..112162883 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3252T>C (p.Asp1084=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744985] Chr5:112838846 [GRCh38]
Chr5:112174543 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4384_4387del (p.Lys1462fs) deletion Familial adenomatous polyposis 1 [RCV003649404] Chr5:112839977..112839980 [GRCh38]
Chr5:112175674..112175677 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1027A>C (p.Ser343Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744976] Chr5:112819059 [GRCh38]
Chr5:112154756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3915A>G (p.Ala1305=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534917] Chr5:112839509 [GRCh38]
Chr5:112175206 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6154A>G (p.Lys2052Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003066054] Chr5:112841748 [GRCh38]
Chr5:112177445 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.113C>G (p.Thr38Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653652] Chr5:112707830 [GRCh38]
Chr5:112043527 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548+10del deletion Familial adenomatous polyposis 1 [RCV003649391] Chr5:112827253 [GRCh38]
Chr5:112162950 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1155A>G (p.Ala385=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776806] Chr5:112819187 [GRCh38]
Chr5:112154884 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707390G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003776760] Chr5:112707390 [GRCh38]
Chr5:112043087 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.825T>A (p.Gly275=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745543] Chr5:112801374 [GRCh38]
Chr5:112137071 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4047delinsAAGTCCTGTTGA (p.His1349fs) indel Familial adenomatous polyposis 1 [RCV003744917] Chr5:112839641 [GRCh38]
Chr5:112175338 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2217T>G (p.Asp739Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776606] Chr5:112837811 [GRCh38]
Chr5:112173508 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.190G>A (p.Gly64Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649388] Chr5:112766380 [GRCh38]
Chr5:112102077 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4203T>G (p.Ile1401Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744978] Chr5:112839797 [GRCh38]
Chr5:112175494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2996A>G (p.Gln999Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002632123] Chr5:112838590 [GRCh38]
Chr5:112174287 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-15T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743023] Chr5:112766311 [GRCh38]
Chr5:112102008 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2464C>G (p.Leu822Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002579231]|Familial adenomatous polyposis 1 [RCV003649394] Chr5:112838058 [GRCh38]
Chr5:112173755 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7312G>A (p.Val2438Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534933] Chr5:112842906 [GRCh38]
Chr5:112178603 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.707A>T (p.Gln236Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744906] Chr5:112792507 [GRCh38]
Chr5:112128204 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5762G>A (p.Gly1921Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776807] Chr5:112841356 [GRCh38]
Chr5:112177053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8406A>T (p.Pro2802=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744928] Chr5:112844000 [GRCh38]
Chr5:112179697 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5293T>C (p.Leu1765=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744908] Chr5:112840887 [GRCh38]
Chr5:112176584 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2363A>G (p.Lys788Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745541] Chr5:112837957 [GRCh38]
Chr5:112173654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8362C>G (p.Pro2788Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744926] Chr5:112843956 [GRCh38]
Chr5:112179653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2000A>G (p.Gln667Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742897] Chr5:112837594 [GRCh38]
Chr5:112173291 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-18A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003653658] Chr5:112818948 [GRCh38]
Chr5:112154645 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-75_-72dup duplication Familial adenomatous polyposis 1 [RCV003653644] Chr5:112707642..112707643 [GRCh38]
Chr5:112043339..112043340 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8395T>G (p.Ser2799Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776745] Chr5:112843989 [GRCh38]
Chr5:112179686 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6528G>A (p.Leu2176=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744972] Chr5:112842122 [GRCh38]
Chr5:112177819 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6976C>A (p.Arg2326=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776568] Chr5:112842570 [GRCh38]
Chr5:112178267 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2208G>C (p.Lys736Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744997] Chr5:112837802 [GRCh38]
Chr5:112173499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1798A>G (p.Thr600Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744916] Chr5:112835005 [GRCh38]
Chr5:112170702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3721_3723del (p.Gly1241del) deletion Familial adenomatous polyposis 1 [RCV003776948] Chr5:112839313..112839315 [GRCh38]
Chr5:112175010..112175012 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.149A>G (p.Gln50Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742851]|Hereditary cancer-predisposing syndrome [RCV003167679] Chr5:112766339 [GRCh38]
Chr5:112102036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-14G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653643] Chr5:112766312 [GRCh38]
Chr5:112102009 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-10A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003742928] Chr5:112775619 [GRCh38]
Chr5:112111316 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3227C>T (p.Pro1076Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776585]|Hereditary cancer-predisposing syndrome [RCV003585283] Chr5:112838821 [GRCh38]
Chr5:112174518 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3883G>T (p.Glu1295Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744901] Chr5:112839477 [GRCh38]
Chr5:112175174 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.975_979del (p.His325fs) deletion Familial adenomatous polyposis 1 [RCV003744854] Chr5:112819006..112819010 [GRCh38]
Chr5:112154703..112154707 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.760T>C (p.Ser254Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745023] Chr5:112801309 [GRCh38]
Chr5:112137006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.31A>T (p.Lys11Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744902] Chr5:112754921 [GRCh38]
Chr5:112090618 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-88T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003776695] Chr5:112707630 [GRCh38]
Chr5:112043327 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3422C>G (p.Thr1141Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744815] Chr5:112839016 [GRCh38]
Chr5:112174713 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6323C>A (p.Ala2108Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742931] Chr5:112841917 [GRCh38]
Chr5:112177614 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+20C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003776949] Chr5:112828026 [GRCh38]
Chr5:112163723 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8469A>G (p.Thr2823=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745542] Chr5:112844063 [GRCh38]
Chr5:112179760 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5914C>G (p.Leu1972Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776637]|Hereditary cancer-predisposing syndrome [RCV003585286] Chr5:112841508 [GRCh38]
Chr5:112177205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1396A>C (p.Met466Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744921] Chr5:112821979 [GRCh38]
Chr5:112157676 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6690G>C (p.Met2230Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742884] Chr5:112842284 [GRCh38]
Chr5:112177981 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-12C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003776576] Chr5:112801267 [GRCh38]
Chr5:112136964 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5174C>T (p.Ala1725Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744809] Chr5:112840768 [GRCh38]
Chr5:112176465 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7489T>G (p.Ser2497Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776728] Chr5:112843083 [GRCh38]
Chr5:112178780 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6426_6428del (p.Ser2143del) deletion Familial adenomatous polyposis 1 [RCV003744939] Chr5:112842020..112842022 [GRCh38]
Chr5:112177717..112177719 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6688A>T (p.Met2230Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649389] Chr5:112842282 [GRCh38]
Chr5:112177979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5063A>G (p.Asp1688Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744823] Chr5:112840657 [GRCh38]
Chr5:112176354 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6202A>G (p.Met2068Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745539] Chr5:112841796 [GRCh38]
Chr5:112177493 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3460del (p.Glu1154fs) deletion Familial adenomatous polyposis 1 [RCV003743012] Chr5:112839054 [GRCh38]
Chr5:112174751 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2375A>G (p.Lys792Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744980] Chr5:112837969 [GRCh38]
Chr5:112173666 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8242G>T (p.Val2748Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744920] Chr5:112843836 [GRCh38]
Chr5:112179533 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.50A>G (p.Lys17Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776660] Chr5:112754940 [GRCh38]
Chr5:112090637 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2414G>T (p.Arg805Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744954] Chr5:112838008 [GRCh38]
Chr5:112173705 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707407C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653659] Chr5:112707407 [GRCh38]
Chr5:112043104 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3234T>C (p.Tyr1078=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743022] Chr5:112838828 [GRCh38]
Chr5:112174525 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7338A>G (p.Glu2446=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742969] Chr5:112842932 [GRCh38]
Chr5:112178629 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-12A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744918] Chr5:112828844 [GRCh38]
Chr5:112164541 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7165A>G (p.Ser2389Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776612] Chr5:112842759 [GRCh38]
Chr5:112178456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4861C>A (p.Gln1621Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742964] Chr5:112840455 [GRCh38]
Chr5:112176152 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707421G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003063257] Chr5:112707421 [GRCh38]
Chr5:112043118 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5556T>G (p.Thr1852=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742967] Chr5:112841150 [GRCh38]
Chr5:112176847 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.859G>C (p.Glu287Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742925] Chr5:112815519 [GRCh38]
Chr5:112151216 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1210A>G (p.Ile404Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744899] Chr5:112819242 [GRCh38]
Chr5:112154939 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2523A>G (p.Leu841=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744851] Chr5:112838117 [GRCh38]
Chr5:112173814 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707449G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003653656] Chr5:112707449 [GRCh38]
Chr5:112043146 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3602del (p.Ser1201fs) deletion Familial adenomatous polyposis 1 [RCV003060003]|Familial adenomatous polyposis 1 [RCV003534925] Chr5:112839196 [GRCh38]
Chr5:112174893 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.518dup (p.Leu174fs) duplication Familial adenomatous polyposis 1 [RCV003742869] Chr5:112775722..112775723 [GRCh38]
Chr5:112111419..112111420 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707471G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003776656] Chr5:112707471 [GRCh38]
Chr5:112043168 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.365G>A (p.Gly122Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744880] Chr5:112767333 [GRCh38]
Chr5:112103030 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1034dup (p.Ser346fs) duplication Familial adenomatous polyposis 1 [RCV003742916] Chr5:112819065..112819066 [GRCh38]
Chr5:112154762..112154763 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.268A>C (p.Lys90Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742927] Chr5:112767236 [GRCh38]
Chr5:112102933 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8075C>G (p.Pro2692Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744914] Chr5:112843669 [GRCh38]
Chr5:112179366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-46A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743025] Chr5:112707672 [GRCh38]
Chr5:112043369 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4792G>C (p.Ala1598Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744963] Chr5:112840386 [GRCh38]
Chr5:112176083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.227A>T (p.Asn76Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742965] Chr5:112767195 [GRCh38]
Chr5:112102892 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+13C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744960] Chr5:112767403 [GRCh38]
Chr5:112103100 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2959T>C (p.Ser987Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745024] Chr5:112838553 [GRCh38]
Chr5:112174250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-72C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534914] Chr5:112707646 [GRCh38]
Chr5:112043343 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2602G>C (p.Glu868Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742885] Chr5:112838196 [GRCh38]
Chr5:112173893 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2607T>C (p.Asn869=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776641] Chr5:112838201 [GRCh38]
Chr5:112173898 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6504A>G (p.Leu2168=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742870] Chr5:112842098 [GRCh38]
Chr5:112177795 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+23_1958+28del deletion Familial adenomatous polyposis 1 [RCV003534939] Chr5:112835185..112835190 [GRCh38]
Chr5:112170882..112170887 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+4T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742971] Chr5:112755029 [GRCh38]
Chr5:112090726 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3639A>C (p.Ser1213=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003088085] Chr5:112839233 [GRCh38]
Chr5:112174930 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1692A>G (p.Arg564=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744974] Chr5:112828921 [GRCh38]
Chr5:112164618 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.416_421del (p.Lys139_Glu140del) deletion Familial adenomatous polyposis 1 [RCV003742911] Chr5:112767380..112767385 [GRCh38]
Chr5:112103077..112103082 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.33C>T (p.Ala11=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744955] Chr5:112707750 [GRCh38]
Chr5:112043447 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4262G>A (p.Ser1421Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744934] Chr5:112839856 [GRCh38]
Chr5:112175553 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2343C>G (p.Pro781=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744951] Chr5:112837937 [GRCh38]
Chr5:112173634 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5533C>G (p.His1845Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742886] Chr5:112841127 [GRCh38]
Chr5:112176824 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4702G>A (p.Asp1568Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534948] Chr5:112840296 [GRCh38]
Chr5:112175993 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6615T>A (p.Ser2205=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742895] Chr5:112842209 [GRCh38]
Chr5:112177906 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-2A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742968] Chr5:112766324 [GRCh38]
Chr5:112102021 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.782A>C (p.Asn261Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744885] Chr5:112801331 [GRCh38]
Chr5:112137028 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7375T>A (p.Ser2459Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776761] Chr5:112842969 [GRCh38]
Chr5:112178666 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4947A>T (p.Ile1649=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743033] Chr5:112840541 [GRCh38]
Chr5:112176238 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4174T>A (p.Ser1392Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744836] Chr5:112839768 [GRCh38]
Chr5:112175465 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-3C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743034]|Hereditary cancer-predisposing syndrome [RCV003167860] Chr5:112828853 [GRCh38]
Chr5:112164550 [GRCh37]
Chr5:5q22.2		 likely pathogenic|uncertain significance
NM_000038.6(APC):c.3802delinsACACAATATCTTTTT (p.Pro1268fs) indel Familial adenomatous polyposis 1 [RCV003743048] Chr5:112839396 [GRCh38]
Chr5:112175093 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6908G>A (p.Gly2303Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744948] Chr5:112842502 [GRCh38]
Chr5:112178199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+10G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003745017] Chr5:112707892 [GRCh38]
Chr5:112043589 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.38T>G (p.Leu13Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744981] Chr5:112707755 [GRCh38]
Chr5:112043452 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8030G>C (p.Gly2677Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744940]|Hereditary cancer-predisposing syndrome [RCV003340593] Chr5:112843624 [GRCh38]
Chr5:112179321 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-15T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744941] Chr5:112834936 [GRCh38]
Chr5:112170633 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6286T>A (p.Ser2096Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743050] Chr5:112841880 [GRCh38]
Chr5:112177577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-5A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003745019] Chr5:112827103 [GRCh38]
Chr5:112162800 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6633C>G (p.Gly2211=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776752] Chr5:112842227 [GRCh38]
Chr5:112177924 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1041G>A (p.Met347Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653651] Chr5:112819073 [GRCh38]
Chr5:112154770 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5932G>C (p.Glu1978Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744996] Chr5:112841526 [GRCh38]
Chr5:112177223 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3768dup (p.Glu1257fs) duplication Familial adenomatous polyposis 1 [RCV003534926]|Hereditary cancer-predisposing syndrome [RCV003274170] Chr5:112839360..112839361 [GRCh38]
Chr5:112175057..112175058 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4688dup (p.Leu1564fs) duplication Familial adenomatous polyposis 1 [RCV003743006] Chr5:112840281..112840282 [GRCh38]
Chr5:112175978..112175979 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.102T>G (p.Leu34=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742941] Chr5:112754992 [GRCh38]
Chr5:112090689 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.138T>C (p.Thr46=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742979] Chr5:112707855 [GRCh38]
Chr5:112043552 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6853G>T (p.Val2285Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776823] Chr5:112842447 [GRCh38]
Chr5:112178144 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3897T>C (p.Ala1299=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743031] Chr5:112839491 [GRCh38]
Chr5:112175188 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7828G>A (p.Gly2610Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744913]|Hereditary cancer-predisposing syndrome [RCV003308437] Chr5:112843422 [GRCh38]
Chr5:112179119 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5680G>C (p.Val1894Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776608] Chr5:112841274 [GRCh38]
Chr5:112176971 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548+10_1548+11insCTTGT insertion Familial adenomatous polyposis 1 [RCV003742970] Chr5:112827256..112827257 [GRCh38]
Chr5:112162953..112162954 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-8C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003649390] Chr5:112801271 [GRCh38]
Chr5:112136968 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3298del (p.Ser1100fs) deletion Familial adenomatous polyposis 1 [RCV003336795]|Familial adenomatous polyposis 1 [RCV003744933] Chr5:112838890 [GRCh38]
Chr5:112174587 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4851T>C (p.Leu1617=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743032] Chr5:112840445 [GRCh38]
Chr5:112176142 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8099A>G (p.Asn2700Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745026] Chr5:112843693 [GRCh38]
Chr5:112179390 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5347A>G (p.Thr1783Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649403] Chr5:112840941 [GRCh38]
Chr5:112176638 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2605A>G (p.Asn869Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649393] Chr5:112838199 [GRCh38]
Chr5:112173896 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3224A>C (p.Tyr1075Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744884] Chr5:112838818 [GRCh38]
Chr5:112174515 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7192T>A (p.Ser2398Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653646] Chr5:112842786 [GRCh38]
Chr5:112178483 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5963A>C (p.Lys1988Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745018] Chr5:112841557 [GRCh38]
Chr5:112177254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-106G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003649395] Chr5:112707612 [GRCh38]
Chr5:112043309 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7291_7294del (p.Arg2431fs) deletion Familial adenomatous polyposis 1 [RCV003745547] Chr5:112842882..112842885 [GRCh38]
Chr5:112178579..112178582 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.462A>G (p.Glu154=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744835] Chr5:112775668 [GRCh38]
Chr5:112111365 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4415_4431del (p.Val1472fs) deletion Familial adenomatous polyposis 1 [RCV003742902] Chr5:112840006..112840022 [GRCh38]
Chr5:112175703..112175719 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-102C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003742972] Chr5:112707616 [GRCh38]
Chr5:112043313 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2747_2750dup (p.Glu918fs) duplication Familial adenomatous polyposis 1 [RCV003653677] Chr5:112838338..112838339 [GRCh38]
Chr5:112174035..112174036 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.220+14A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744915] Chr5:112766424 [GRCh38]
Chr5:112102121 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.61T>C (p.Ser21Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742929] Chr5:112754951 [GRCh38]
Chr5:112090648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5120C>G (p.Ser1707Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742930] Chr5:112840714 [GRCh38]
Chr5:112176411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1889C>T (p.Ala630Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744953] Chr5:112835096 [GRCh38]
Chr5:112170793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.163A>T (p.Ile55Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744804] Chr5:112766353 [GRCh38]
Chr5:112102050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707485del deletion Familial adenomatous polyposis 1 [RCV003653665] Chr5:112707484 [GRCh38]
Chr5:112043181 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.903T>A (p.Pro301=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653664]|Hereditary cancer-predisposing syndrome [RCV003274218] Chr5:112815563 [GRCh38]
Chr5:112151260 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.838T>C (p.Ser280Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742887] Chr5:112815498 [GRCh38]
Chr5:112151195 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707426A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV002580787] Chr5:112707426 [GRCh38]
Chr5:112043123 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6753A>T (p.Pro2251=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776809] Chr5:112842347 [GRCh38]
Chr5:112178044 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707422C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744907] Chr5:112707422 [GRCh38]
Chr5:112043119 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2924A>G (p.Lys975Arg) single nucleotide variant not provided [RCV003059954] Chr5:112838518 [GRCh38]
Chr5:112174215 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+10G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003742868] Chr5:112815603 [GRCh38]
Chr5:112151300 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3086T>G (p.Leu1029Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744979] Chr5:112838680 [GRCh38]
Chr5:112174377 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4063del (p.Ser1355fs) deletion Familial adenomatous polyposis 1 [RCV003337418]|Familial adenomatous polyposis 1 [RCV003744973] Chr5:112839654 [GRCh38]
Chr5:112175351 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3838_3839del (p.Leu1280fs) deletion Familial adenomatous polyposis 1 [RCV003534927] Chr5:112839431..112839432 [GRCh38]
Chr5:112175128..112175129 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2548A>G (p.Arg850Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743041]|Hereditary cancer-predisposing syndrome [RCV003585312] Chr5:112838142 [GRCh38]
Chr5:112173839 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8163C>G (p.Arg2721=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743013]|Hereditary cancer-predisposing syndrome [RCV003585308] Chr5:112843757 [GRCh38]
Chr5:112179454 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5210G>C (p.Ser1737Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534911]|Hereditary cancer-predisposing syndrome [RCV003585317] Chr5:112840804 [GRCh38]
Chr5:112176501 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.19T>G (p.Ser7Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534943] Chr5:112707736 [GRCh38]
Chr5:112043433 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2830A>T (p.Asn944Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776790] Chr5:112838424 [GRCh38]
Chr5:112174121 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5762G>C (p.Gly1921Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745021] Chr5:112841356 [GRCh38]
Chr5:112177053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.115A>T (p.Lys39Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744998] Chr5:112707832 [GRCh38]
Chr5:112043529 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1289del (p.Gly430fs) deletion Familial adenomatous polyposis 1 [RCV003776792] Chr5:112819320 [GRCh38]
Chr5:112155017 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7197A>G (p.Lys2399=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534940]|Hereditary cancer-predisposing syndrome [RCV003585362] Chr5:112842791 [GRCh38]
Chr5:112178488 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5131C>T (p.Pro1711Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653640]|Hereditary cancer-predisposing syndrome [RCV003294445] Chr5:112840725 [GRCh38]
Chr5:112176422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.35C>T (p.Pro12Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744833] Chr5:112707752 [GRCh38]
Chr5:112043449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707383C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003069363] Chr5:112707383 [GRCh38]
Chr5:112043080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2268A>G (p.Lys756=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776693] Chr5:112837862 [GRCh38]
Chr5:112173559 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1836A>T (p.Ala612=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776874] Chr5:112835043 [GRCh38]
Chr5:112170740 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5593C>T (p.Leu1865=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776875] Chr5:112841187 [GRCh38]
Chr5:112176884 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6420A>C (p.Ser2140=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745015] Chr5:112842014 [GRCh38]
Chr5:112177711 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.129C>G (p.Gly43=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534929] Chr5:112707846 [GRCh38]
Chr5:112043543 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7570A>T (p.Lys2524Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003068732]|Familial adenomatous polyposis 1 [RCV003653641]|Hereditary cancer-predisposing syndrome [RCV003274199] Chr5:112843164 [GRCh38]
Chr5:112178861 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.8328T>C (p.Thr2776=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653673] Chr5:112843922 [GRCh38]
Chr5:112179619 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2795_2802dup (p.Tyr935fs) duplication Familial adenomatous polyposis 1 [RCV003744999] Chr5:112838387..112838388 [GRCh38]
Chr5:112174084..112174085 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2637G>T (p.Gln879His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649399]|Hereditary cancer-predisposing syndrome [RCV003274256] Chr5:112838231 [GRCh38]
Chr5:112173928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707414G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003534934] Chr5:112707414 [GRCh38]
Chr5:112043111 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.146A>C (p.His49Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534913] Chr5:112707863 [GRCh38]
Chr5:112043560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4038A>G (p.Ser1346=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745020] Chr5:112839632 [GRCh38]
Chr5:112175329 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1086C>G (p.Gly362=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653642] Chr5:112819118 [GRCh38]
Chr5:112154815 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4048A>G (p.Lys1350Glu) single nucleotide variant not provided [RCV003129135] Chr5:112839642 [GRCh38]
Chr5:112175339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2259T>C (p.His753=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745014] Chr5:112837853 [GRCh38]
Chr5:112173550 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7985A>T (p.Glu2662Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV002605780] Chr5:112843579 [GRCh38]
Chr5:112179276 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5355T>C (p.Tyr1785=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776666] Chr5:112840949 [GRCh38]
Chr5:112176646 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6764C>T (p.Thr2255Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776856]|not provided [RCV003321955] Chr5:112842358 [GRCh38]
Chr5:112178055 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5820A>G (p.Ile1940Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534930]|Hereditary cancer-predisposing syndrome [RCV003585347] Chr5:112841414 [GRCh38]
Chr5:112177111 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-35G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653647]|not specified [RCV003493977] Chr5:112707683 [GRCh38]
Chr5:112043380 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.3419C>T (p.Pro1140Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653654] Chr5:112839013 [GRCh38]
Chr5:112174710 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3209A>G (p.Asn1070Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653666] Chr5:112838803 [GRCh38]
Chr5:112174500 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3599G>A (p.Ser1200Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653667] Chr5:112839193 [GRCh38]
Chr5:112174890 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4107C>T (p.Pro1369=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653668]|Hereditary cancer-predisposing syndrome [RCV003349023] Chr5:112839701 [GRCh38]
Chr5:112175398 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4413A>T (p.Ala1471=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653669] Chr5:112840007 [GRCh38]
Chr5:112175704 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4431G>A (p.Gln1477=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653670] Chr5:112840025 [GRCh38]
Chr5:112175722 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7221T>C (p.Gly2407=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653671] Chr5:112842815 [GRCh38]
Chr5:112178512 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934-20T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003776820] Chr5:112818946 [GRCh38]
Chr5:112154643 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2401T>G (p.Phe801Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649392] Chr5:112837995 [GRCh38]
Chr5:112173692 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-12G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003534918] Chr5:112792434 [GRCh38]
Chr5:112128131 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1958+16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003776639] Chr5:112835181 [GRCh38]
Chr5:112170878 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3935G>A (p.Gly1312Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649408] Chr5:112839529 [GRCh38]
Chr5:112175226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4773A>C (p.Ala1591=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776642]|Hereditary cancer-predisposing syndrome [RCV003289543] Chr5:112840367 [GRCh38]
Chr5:112176064 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7348C>A (p.Pro2450Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003742865] Chr5:112842942 [GRCh38]
Chr5:112178639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-152C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003776582] Chr5:112707566 [GRCh38]
Chr5:112043263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4435G>T (p.Val1479Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776645] Chr5:112840029 [GRCh38]
Chr5:112175726 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5740G>A (p.Ala1914Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653648]|not specified [RCV003493978] Chr5:112841334 [GRCh38]
Chr5:112177031 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3663_3665del (p.Ser1223del) deletion Familial adenomatous polyposis 1 [RCV003649400] Chr5:112839256..112839258 [GRCh38]
Chr5:112174953..112174955 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.57C>G (p.Pro19=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534937] Chr5:112707774 [GRCh38]
Chr5:112043471 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7220G>T (p.Gly2407Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776732]|not provided [RCV003328706] Chr5:112842814 [GRCh38]
Chr5:112178511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1223A>G (p.His408Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV002943866] Chr5:112819255 [GRCh38]
Chr5:112154952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-4C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003776682] Chr5:112834947 [GRCh38]
Chr5:112170644 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3008A>G (p.Asp1003Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745000] Chr5:112838602 [GRCh38]
Chr5:112174299 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7274G>C (p.Ser2425Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649396]|Hereditary cancer-predisposing syndrome [RCV003161888] Chr5:112842868 [GRCh38]
Chr5:112178565 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-13T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003067196] Chr5:112780777 [GRCh38]
Chr5:112116474 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5278C>T (p.Pro1760Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776566] Chr5:112840872 [GRCh38]
Chr5:112176569 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6441A>G (p.Pro2147=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649409]|not specified [RCV003320917] Chr5:112842035 [GRCh38]
Chr5:112177732 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+12A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744819] Chr5:112822003 [GRCh38]
Chr5:112157700 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3038A>C (p.His1013Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745544] Chr5:112838632 [GRCh38]
Chr5:112174329 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.318T>C (p.Arg106=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776630] Chr5:112767286 [GRCh38]
Chr5:112102983 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8031T>A (p.Gly2677=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003776631] Chr5:112843625 [GRCh38]
Chr5:112179322 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-136G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003653657] Chr5:112707582 [GRCh38]
Chr5:112043279 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7366T>C (p.Leu2456=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653672]|Hereditary cancer-predisposing syndrome [RCV003340625] Chr5:112842960 [GRCh38]
Chr5:112178657 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7479A>C (p.Leu2493=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745545] Chr5:112843073 [GRCh38]
Chr5:112178770 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.574G>A (p.Glu192Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744930] Chr5:112780832 [GRCh38]
Chr5:112116529 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7701_7702del (p.Gly2568fs) deletion Familial multiple polyposis syndrome [RCV003155675] Chr5:112843295..112843296 [GRCh38]
Chr5:112178992..112178993 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1514del (p.Ala504_Leu505insTer) deletion Familial adenomatous polyposis 1 [RCV003337420]|Familial multiple polyposis syndrome [RCV003155854] Chr5:112827211 [GRCh38]
Chr5:112162908 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4600G>A (p.Gly1534Arg) single nucleotide variant not provided [RCV003154402] Chr5:112840194 [GRCh38]
Chr5:112175891 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8029G>C (p.Gly2677Arg) single nucleotide variant Ovarian cancer [RCV003154741] Chr5:112843623 [GRCh38]
Chr5:112179320 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3746G>C (p.Cys1249Ser) single nucleotide variant Ovarian cancer [RCV003154674] Chr5:112839340 [GRCh38]
Chr5:112175037 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.3425A>T (p.Asn1142Ile) single nucleotide variant Ovarian cancer [RCV003154758] Chr5:112839019 [GRCh38]
Chr5:112174716 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6209G>T (p.Gly2070Val) single nucleotide variant Ovarian cancer [RCV003154719] Chr5:112841803 [GRCh38]
Chr5:112177500 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.5014G>A (p.Gly1672Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278254] Chr5:112840608 [GRCh38]
Chr5:112176305 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5421C>G (p.Asp1807Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278255] Chr5:112841015 [GRCh38]
Chr5:112176712 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6285T>A (p.Asp2095Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278256] Chr5:112841879 [GRCh38]
Chr5:112177576 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1555C>G (p.Leu519Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278258] Chr5:112827935 [GRCh38]
Chr5:112163632 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.290del (p.Gly97fs) deletion Familial adenomatous polyposis 1 [RCV003336843]|Hereditary cancer-predisposing syndrome [RCV003278259] Chr5:112767257 [GRCh38]
Chr5:112102954 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8444A>G (p.Lys2815Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278261] Chr5:112844038 [GRCh38]
Chr5:112179735 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1718T>G (p.Met573Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278263] Chr5:112828947 [GRCh38]
Chr5:112164644 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6769G>A (p.Ala2257Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745575]|Hereditary cancer-predisposing syndrome [RCV003278272] Chr5:112842363 [GRCh38]
Chr5:112178060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2714G>T (p.Ser905Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278275] Chr5:112838308 [GRCh38]
Chr5:112174005 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5768C>A (p.Pro1923His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278278] Chr5:112841362 [GRCh38]
Chr5:112177059 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6716G>T (p.Ser2239Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278279] Chr5:112842310 [GRCh38]
Chr5:112178007 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7250C>A (p.Ser2417Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278280] Chr5:112842844 [GRCh38]
Chr5:112178541 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7771C>A (p.His2591Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278282] Chr5:112843365 [GRCh38]
Chr5:112179062 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7908T>G (p.Asn2636Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278283] Chr5:112843502 [GRCh38]
Chr5:112179199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.52A>T (p.Met18Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278284] Chr5:112754942 [GRCh38]
Chr5:112090639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8478T>A (p.Ser2826Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278286] Chr5:112844072 [GRCh38]
Chr5:112179769 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7543A>C (p.Ile2515Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278300] Chr5:112843137 [GRCh38]
Chr5:112178834 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5001T>G (p.Asn1667Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278306] Chr5:112840595 [GRCh38]
Chr5:112176292 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1256delinsTCA (p.Thr419fs) indel Familial adenomatous polyposis 1 [RCV003337425]|Hereditary cancer-predisposing syndrome [RCV003278308] Chr5:112819288 [GRCh38]
Chr5:112154985 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2602G>A (p.Glu868Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278312] Chr5:112838196 [GRCh38]
Chr5:112173893 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.654A>G (p.Ile218Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278313] Chr5:112792454 [GRCh38]
Chr5:112128151 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7572G>A (p.Lys2524=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003278314] Chr5:112843166 [GRCh38]
Chr5:112178863 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.762A>C (p.Ser254=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003777240]|Hereditary cancer-predisposing syndrome [RCV003278315] Chr5:112801311 [GRCh38]
Chr5:112137008 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7897G>A (p.Gly2633Ser) single nucleotide variant not provided [RCV003159494] Chr5:112843491 [GRCh38]
Chr5:112179188 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3559dup (p.Ile1187fs) duplication Familial adenomatous polyposis 1 [RCV003224985] Chr5:112839152..112839153 [GRCh38]
Chr5:112174849..112174850 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4090A>G (p.Ser1364Gly) single nucleotide variant not provided [RCV003227434] Chr5:112839684 [GRCh38]
Chr5:112175381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5995C>T (p.Pro1999Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534994]|Hereditary cancer-predisposing syndrome [RCV003294658]|not provided [RCV003229463] Chr5:112841589 [GRCh38]
Chr5:112177286 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1612G>T (p.Glu538Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337414]|Gastric cancer [RCV003164556] Chr5:112827992 [GRCh38]
Chr5:112163689 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1616A>G (p.Asp539Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534992]|Hereditary cancer-predisposing syndrome [RCV003211868] Chr5:112827996 [GRCh38]
Chr5:112163693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1580G>A (p.Arg527Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003165106] Chr5:112827960 [GRCh38]
Chr5:112163657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4399C>A (p.Pro1467Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003217003] Chr5:112839993 [GRCh38]
Chr5:112175690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7116G>T (p.Gln2372His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177468] Chr5:112842710 [GRCh38]
Chr5:112178407 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.377G>A (p.Gly126Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003779560]|Hereditary cancer-predisposing syndrome [RCV003177469] Chr5:112767345 [GRCh38]
Chr5:112103042 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2157T>C (p.Ala719=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177470] Chr5:112837751 [GRCh38]
Chr5:112173448 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2646C>G (p.Thr882=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177471] Chr5:112838240 [GRCh38]
Chr5:112173937 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2877_2898del (p.Asn961fs) deletion Familial adenomatous polyposis 1 [RCV003649434]|Hereditary cancer-predisposing syndrome [RCV003177473] Chr5:112838471..112838492 [GRCh38]
Chr5:112174168..112174189 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.418G>C (p.Glu140Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177474] Chr5:112767386 [GRCh38]
Chr5:112103083 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3386T>A (p.Leu1129Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177475] Chr5:112838980 [GRCh38]
Chr5:112174677 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3330A>C (p.Ser1110=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177476] Chr5:112838924 [GRCh38]
Chr5:112174621 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1221T>G (p.Leu407=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177477] Chr5:112819253 [GRCh38]
Chr5:112154950 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1562C>A (p.Ser521Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177478] Chr5:112827942 [GRCh38]
Chr5:112163639 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2329G>T (p.Asp777Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177479] Chr5:112837923 [GRCh38]
Chr5:112173620 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6815G>A (p.Arg2272Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177492] Chr5:112842409 [GRCh38]
Chr5:112178106 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.770C>A (p.Ala257Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177493] Chr5:112801319 [GRCh38]
Chr5:112137016 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2715T>A (p.Ser905Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177494] Chr5:112838309 [GRCh38]
Chr5:112174006 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4632A>C (p.Glu1544Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177518] Chr5:112840226 [GRCh38]
Chr5:112175923 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4638T>A (p.Asn1546Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177519] Chr5:112840232 [GRCh38]
Chr5:112175929 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2003A>T (p.His668Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649435]|Hereditary cancer-predisposing syndrome [RCV003177533] Chr5:112837597 [GRCh38]
Chr5:112173294 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003337421]|Hereditary cancer-predisposing syndrome [RCV003165107] Chr5:112828974 [GRCh38]
Chr5:112164671 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2763A>T (p.Ala921=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003777239]|Hereditary cancer-predisposing syndrome [RCV003306874] Chr5:112838357 [GRCh38]
Chr5:112174054 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7054A>C (p.Ser2352Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306875] Chr5:112842648 [GRCh38]
Chr5:112178345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2856C>T (p.Ala952=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306876] Chr5:112838450 [GRCh38]
Chr5:112174147 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7G>A (p.Ala3Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745579]|Hereditary cancer-predisposing syndrome [RCV003306879] Chr5:112754897 [GRCh38]
Chr5:112090594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.924G>C (p.Leu308=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306880] Chr5:112815584 [GRCh38]
Chr5:112151281 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4973_4981del (p.Ser1658_Leu1660del) deletion Hereditary cancer-predisposing syndrome [RCV003306881] Chr5:112840562..112840570 [GRCh38]
Chr5:112176259..112176267 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-3C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177447] Chr5:112827926 [GRCh38]
Chr5:112163623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.844A>T (p.Thr282Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177450] Chr5:112815504 [GRCh38]
Chr5:112151201 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8049T>A (p.Ile2683=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534988]|Hereditary cancer-predisposing syndrome [RCV003177451] Chr5:112843643 [GRCh38]
Chr5:112179340 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3973G>C (p.Ala1325Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745560]|Hereditary cancer-predisposing syndrome [RCV003177452] Chr5:112839567 [GRCh38]
Chr5:112175264 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1707G>A (p.Val569=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177453] Chr5:112828936 [GRCh38]
Chr5:112164633 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8151T>C (p.Gly2717=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177454] Chr5:112843745 [GRCh38]
Chr5:112179442 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646C>A (p.Arg216=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177455] Chr5:112792446 [GRCh38]
Chr5:112128143 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4647A>T (p.Gln1549His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177456] Chr5:112840241 [GRCh38]
Chr5:112175938 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1326T>A (p.Val442=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177466] Chr5:112821909 [GRCh38]
Chr5:112157606 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8264C>T (p.Ser2755Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649436]|Hereditary cancer-predisposing syndrome [RCV003216836] Chr5:112843858 [GRCh38]
Chr5:112179555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5531A>C (p.His1844Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003216943] Chr5:112841125 [GRCh38]
Chr5:112176822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5610T>A (p.Asp1870Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177486] Chr5:112841204 [GRCh38]
Chr5:112176901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2595A>G (p.Pro865=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177487] Chr5:112838189 [GRCh38]
Chr5:112173886 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1384C>T (p.His462Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003779562]|Hereditary cancer-predisposing syndrome [RCV003177488] Chr5:112821967 [GRCh38]
Chr5:112157664 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5844T>A (p.Asp1948Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177489] Chr5:112841438 [GRCh38]
Chr5:112177135 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7604G>T (p.Ser2535Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177490] Chr5:112843198 [GRCh38]
Chr5:112178895 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6050C>A (p.Thr2017Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177496] Chr5:112841644 [GRCh38]
Chr5:112177341 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2106G>A (p.Gly702=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177497] Chr5:112837700 [GRCh38]
Chr5:112173397 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5197C>G (p.Pro1733Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177500] Chr5:112840791 [GRCh38]
Chr5:112176488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6192T>A (p.Ser2064Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177501] Chr5:112841786 [GRCh38]
Chr5:112177483 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6451del (p.Thr2151fs) deletion Hereditary cancer-predisposing syndrome [RCV003177502] Chr5:112842045 [GRCh38]
Chr5:112177742 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.881C>G (p.Ser294Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177503] Chr5:112815541 [GRCh38]
Chr5:112151238 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2476T>C (p.Leu826=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177504] Chr5:112838070 [GRCh38]
Chr5:112173767 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+1360G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177505] Chr5:112823351 [GRCh38]
Chr5:112159048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.279C>G (p.Leu93=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177506] Chr5:112767247 [GRCh38]
Chr5:112102944 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3481A>T (p.Asn1161Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177507] Chr5:112839075 [GRCh38]
Chr5:112174772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7016C>G (p.Pro2339Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177508] Chr5:112842610 [GRCh38]
Chr5:112178307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.602A>G (p.Glu201Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177509] Chr5:112780860 [GRCh38]
Chr5:112116557 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003336828]|Hereditary cancer-predisposing syndrome [RCV003177510] Chr5:112834950 [GRCh38]
Chr5:112170647 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3688C>A (p.Gln1230Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177511] Chr5:112839282 [GRCh38]
Chr5:112174979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8286C>T (p.Phe2762=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177513] Chr5:112843880 [GRCh38]
Chr5:112179577 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4204G>T (p.Ala1402Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177514] Chr5:112839798 [GRCh38]
Chr5:112175495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4531C>A (p.Leu1511Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177517] Chr5:112840125 [GRCh38]
Chr5:112175822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5281A>T (p.Asn1761Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177520] Chr5:112840875 [GRCh38]
Chr5:112176572 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5547T>C (p.Ile1849=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177521] Chr5:112841141 [GRCh38]
Chr5:112176838 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6096T>C (p.Ile2032=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177522] Chr5:112841690 [GRCh38]
Chr5:112177387 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6322G>T (p.Ala2108Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177523] Chr5:112841916 [GRCh38]
Chr5:112177613 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6394T>A (p.Ser2132Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177524] Chr5:112841988 [GRCh38]
Chr5:112177685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6705A>T (p.Gly2235=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177525] Chr5:112842299 [GRCh38]
Chr5:112177996 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7561A>G (p.Arg2521Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177528] Chr5:112843155 [GRCh38]
Chr5:112178852 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7699A>T (p.Thr2567Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745562]|Hereditary cancer-predisposing syndrome [RCV003177529] Chr5:112843293 [GRCh38]
Chr5:112178990 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.949T>A (p.Ser317Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177530] Chr5:112818981 [GRCh38]
Chr5:112154678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6355del (p.Ala2119fs) deletion Hereditary cancer-predisposing syndrome [RCV003177531] Chr5:112841949 [GRCh38]
Chr5:112177646 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2486_2487del (p.Thr829fs) deletion Familial adenomatous polyposis 1 [RCV003337422]|Hereditary cancer-predisposing syndrome [RCV003177532] Chr5:112838079..112838080 [GRCh38]
Chr5:112173776..112173777 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6373T>C (p.Ser2125Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177536] Chr5:112841967 [GRCh38]
Chr5:112177664 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2127C>T (p.Asn709=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177542] Chr5:112837721 [GRCh38]
Chr5:112173418 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8320A>G (p.Ser2774Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177543] Chr5:112843914 [GRCh38]
Chr5:112179611 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7842A>T (p.Lys2614Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177544] Chr5:112843436 [GRCh38]
Chr5:112179133 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8120G>T (p.Gly2707Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003217237] Chr5:112843714 [GRCh38]
Chr5:112179411 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1505G>T (p.Gly502Val) single nucleotide variant not provided [RCV003219077]|not specified [RCV003988092] Chr5:112827204 [GRCh38]
Chr5:112162901 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2582G>A (p.Gly861Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003534987]|Hereditary cancer-predisposing syndrome [RCV003176339] Chr5:112838176 [GRCh38]
Chr5:112173873 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6422G>A (p.Gly2141Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003176340] Chr5:112842016 [GRCh38]
Chr5:112177713 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4222G>T (p.Glu1408Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003228785]|Familial adenomatous polyposis 1 [RCV003336837] Chr5:112839816 [GRCh38]
Chr5:112175513 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.6503dup (p.Pro2170fs) duplication Gastric cancer [RCV003164616] Chr5:112842096..112842097 [GRCh38]
Chr5:112177793..112177794 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5818del (p.Ile1940fs) deletion Gastric cancer [RCV003164661] Chr5:112841412 [GRCh38]
Chr5:112177109 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8246C>G (p.Ser2749Ter) single nucleotide variant Gastric cancer [RCV003164557] Chr5:112843840 [GRCh38]
Chr5:112179537 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1809dup (p.Ala604fs) duplication Gastric cancer [RCV003164596] Chr5:112835013..112835014 [GRCh38]
Chr5:112170710..112170711 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4dup (p.Ala2fs) duplication Gastric cancer [RCV003164615] Chr5:112754892..112754893 [GRCh38]
Chr5:112090589..112090590 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8111A>G (p.Gln2704Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003211965] Chr5:112843705 [GRCh38]
Chr5:112179402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2374A>C (p.Lys792Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649430]|not provided [RCV003141475] Chr5:112837968 [GRCh38]
Chr5:112173665 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5497A>G (p.Arg1833Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177467] Chr5:112841091 [GRCh38]
Chr5:112176788 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5866A>C (p.Ile1956Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177495] Chr5:112841460 [GRCh38]
Chr5:112177157 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2068A>T (p.Arg690Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177498] Chr5:112837662 [GRCh38]
Chr5:112173359 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.192A>C (p.Gly64=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177512] Chr5:112766382 [GRCh38]
Chr5:112102079 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3936A>C (p.Gly1312=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177515] Chr5:112839530 [GRCh38]
Chr5:112175227 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4263T>A (p.Ser1421Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177516] Chr5:112839857 [GRCh38]
Chr5:112175554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7254A>G (p.Arg2418=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177527] Chr5:112842848 [GRCh38]
Chr5:112178545 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8152T>G (p.Leu2718Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177534] Chr5:112843746 [GRCh38]
Chr5:112179443 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2318T>C (p.Phe773Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177535] Chr5:112837912 [GRCh38]
Chr5:112173609 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7648G>A (p.Glu2550Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177538] Chr5:112843242 [GRCh38]
Chr5:112178939 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5064T>C (p.Asp1688=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177539] Chr5:112840658 [GRCh38]
Chr5:112176355 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3938C>G (p.Thr1313Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177540] Chr5:112839532 [GRCh38]
Chr5:112175229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5349T>A (p.Thr1783=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177541] Chr5:112840943 [GRCh38]
Chr5:112176640 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7403C>T (p.Ser2468Leu) single nucleotide variant Desmoid disease, hereditary [RCV003142448]|Familial adenomatous polyposis 1 [RCV003745551] Chr5:112842997 [GRCh38]
Chr5:112178694 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.268A>T (p.Lys90Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336838]|Hereditary cancer-predisposing syndrome [RCV003300879] Chr5:112767236 [GRCh38]
Chr5:112102933 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.420G>A (p.Glu140=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300884] Chr5:112767388 [GRCh38]
Chr5:112103085 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3599G>T (p.Ser1200Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300886] Chr5:112839193 [GRCh38]
Chr5:112174890 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.226A>G (p.Asn76Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003300891] Chr5:112767194 [GRCh38]
Chr5:112102891 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.898dup (p.Ala300fs) duplication Familial adenomatous polyposis 1 [RCV003336816] Chr5:112815557..112815558 [GRCh38]
Chr5:112151254..112151255 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.220+1del deletion Familial adenomatous polyposis 1 [RCV003336817] Chr5:112766410 [GRCh38]
Chr5:112102107 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6227dup (p.Thr2077fs) duplication Familial adenomatous polyposis 1 [RCV003336818] Chr5:112841820..112841821 [GRCh38]
Chr5:112177517..112177518 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs) deletion Familial adenomatous polyposis 1 [RCV003228784]|Familial adenomatous polyposis 1 [RCV003337423] Chr5:112837989..112837990 [GRCh38]
Chr5:112173686..112173687 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4568G>A (p.Arg1523Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003205126] Chr5:112840162 [GRCh38]
Chr5:112175859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2373_2374del (p.His791fs) microsatellite Hereditary cancer-predisposing syndrome [RCV003165108] Chr5:112837964..112837965 [GRCh38]
Chr5:112173661..112173662 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4345A>G (p.Lys1449Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649439]|not provided [RCV003228501] Chr5:112839939 [GRCh38]
Chr5:112175636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.450_483del (p.Lys150fs) deletion Familial adenomatous polyposis 1 [RCV003745566]|Familial multiple polyposis syndrome [RCV003226654] Chr5:112775653..112775686 [GRCh38]
Chr5:112111350..112111383 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1475A>T (p.His492Leu) single nucleotide variant not provided [RCV003229255] Chr5:112827174 [GRCh38]
Chr5:112162871 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2304C>T (p.His768=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003195089] Chr5:112837898 [GRCh38]
Chr5:112173595 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5155G>T (p.Glu1719Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336826]|Hereditary cancer-predisposing syndrome [RCV003165109] Chr5:112840749 [GRCh38]
Chr5:112176446 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4362A>T (p.Lys1454Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177449] Chr5:112839956 [GRCh38]
Chr5:112175653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7843A>C (p.Ile2615Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177457] Chr5:112843437 [GRCh38]
Chr5:112179134 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5716T>C (p.Ser1906Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177458] Chr5:112841310 [GRCh38]
Chr5:112177007 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7385T>G (p.Phe2462Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177459] Chr5:112842979 [GRCh38]
Chr5:112178676 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8327C>A (p.Thr2776Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177460] Chr5:112843921 [GRCh38]
Chr5:112179618 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3644G>T (p.Ser1215Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177461] Chr5:112839238 [GRCh38]
Chr5:112174935 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6268_6291del (p.His2090_Glu2097del) deletion Hereditary cancer-predisposing syndrome [RCV003177462] Chr5:112841853..112841876 [GRCh38]
Chr5:112177550..112177573 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3111C>G (p.Asn1037Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177463] Chr5:112838705 [GRCh38]
Chr5:112174402 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5807C>T (p.Ser1936Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177464] Chr5:112841401 [GRCh38]
Chr5:112177098 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.245T>A (p.Phe82Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177465] Chr5:112767213 [GRCh38]
Chr5:112102910 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5774C>G (p.Pro1925Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177472] Chr5:112841368 [GRCh38]
Chr5:112177065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3085C>A (p.Leu1029Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177480] Chr5:112838679 [GRCh38]
Chr5:112174376 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4943C>A (p.Pro1648His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745561]|Hereditary cancer-predisposing syndrome [RCV003177481] Chr5:112840537 [GRCh38]
Chr5:112176234 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5466C>A (p.Val1822=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177482] Chr5:112841060 [GRCh38]
Chr5:112176757 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6346C>A (p.His2116Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177483] Chr5:112841940 [GRCh38]
Chr5:112177637 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7964A>T (p.Glu2655Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177484] Chr5:112843558 [GRCh38]
Chr5:112179255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6923C>T (p.Thr2308Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003779561]|Hereditary cancer-predisposing syndrome [RCV003177485] Chr5:112842517 [GRCh38]
Chr5:112178214 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.324A>G (p.Gly108=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177491] Chr5:112767292 [GRCh38]
Chr5:112102989 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2247G>A (p.Leu749=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177499] Chr5:112837841 [GRCh38]
Chr5:112173538 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6833T>A (p.Val2278Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177526] Chr5:112842427 [GRCh38]
Chr5:112178124 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5139G>A (p.Leu1713=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003177537] Chr5:112840733 [GRCh38]
Chr5:112176430 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2747C>T (p.Thr916Ile) single nucleotide variant not provided [RCV003323127] Chr5:112838341 [GRCh38]
Chr5:112174038 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3881A>G (p.Gln1294Arg) single nucleotide variant not provided [RCV003323194] Chr5:112839475 [GRCh38]
Chr5:112175172 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+27A>G single nucleotide variant not specified [RCV003320305] Chr5:112828999 [GRCh38]
Chr5:112164696 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3707C>T (p.Ala1236Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585378]|not specified [RCV003320307] Chr5:112839301 [GRCh38]
Chr5:112174998 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4219_4220del (p.Gln1406_Ser1407insTer) microsatellite not provided [RCV003321031] Chr5:112839811..112839812 [GRCh38]
Chr5:112175508..112175509 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1312+24G>A single nucleotide variant not specified [RCV003321027] Chr5:112819368 [GRCh38]
Chr5:112155065 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2082C>G (p.Asp694Glu) single nucleotide variant not provided [RCV003319732] Chr5:112837676 [GRCh38]
Chr5:112173373 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+30T>C single nucleotide variant not specified [RCV003321028] Chr5:112828036 [GRCh38]
Chr5:112163733 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.730-38C>T single nucleotide variant not specified [RCV003321025] Chr5:112801241 [GRCh38]
Chr5:112136938 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.934-9G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306818] Chr5:112818957 [GRCh38]
Chr5:112154654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.308dup (p.Ser104fs) duplication Hereditary cancer-predisposing syndrome [RCV003306819] Chr5:112767275..112767276 [GRCh38]
Chr5:112102972..112102973 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2208G>A (p.Lys736=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535001]|Hereditary cancer-predisposing syndrome [RCV003306820] Chr5:112837802 [GRCh38]
Chr5:112173499 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1427del (p.Ala476fs) deletion Hereditary cancer-predisposing syndrome [RCV003306822] Chr5:112827126 [GRCh38]
Chr5:112162823 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4439A>C (p.Gln1480Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306823] Chr5:112840033 [GRCh38]
Chr5:112175730 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6445C>T (p.His2149Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306824] Chr5:112842039 [GRCh38]
Chr5:112177736 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5913T>C (p.Ser1971=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306825] Chr5:112841507 [GRCh38]
Chr5:112177204 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1369dup (p.Ser457fs) duplication Familial adenomatous polyposis 1 [RCV003336844]|Hereditary cancer-predisposing syndrome [RCV003306827] Chr5:112821949..112821950 [GRCh38]
Chr5:112157646..112157647 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5927A>G (p.Asp1976Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306828] Chr5:112841521 [GRCh38]
Chr5:112177218 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3570A>T (p.Ser1190=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306829] Chr5:112839164 [GRCh38]
Chr5:112174861 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8524T>A (p.Ser2842Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306830] Chr5:112844118 [GRCh38]
Chr5:112179815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1951G>A (p.Asp651Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306832] Chr5:112835158 [GRCh38]
Chr5:112170855 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1959-2A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306833] Chr5:112837551 [GRCh38]
Chr5:112173248 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1654T>C (p.Ser552Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306834] Chr5:112828883 [GRCh38]
Chr5:112164580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4995T>G (p.Pro1665=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306835] Chr5:112840589 [GRCh38]
Chr5:112176286 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5993A>C (p.Glu1998Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306836] Chr5:112841587 [GRCh38]
Chr5:112177284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3774A>C (p.Thr1258=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306837] Chr5:112839368 [GRCh38]
Chr5:112175065 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8163C>T (p.Arg2721=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306849] Chr5:112843757 [GRCh38]
Chr5:112179454 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5217G>T (p.Lys1739Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306859] Chr5:112840811 [GRCh38]
Chr5:112176508 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6092G>T (p.Ser2031Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306860] Chr5:112841686 [GRCh38]
Chr5:112177383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7379C>A (p.Ala2460Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003306861] Chr5:112842973 [GRCh38]
Chr5:112178670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4850T>C (p.Leu1617Pro) single nucleotide variant not specified [RCV003321034] Chr5:112840444 [GRCh38]
Chr5:112176141 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2280A>T (p.Leu760=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003633705]|not specified [RCV003321030] Chr5:112837874 [GRCh38]
Chr5:112173571 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8110C>G (p.Gln2704Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585379]|not provided [RCV003321266] Chr5:112843704 [GRCh38]
Chr5:112179401 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745572]|Hereditary cancer-predisposing syndrome [RCV003310414] Chr5:112844040 [GRCh38]
Chr5:112179737 [GRCh37]
Chr5:5q22.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000038.6(APC):c.7286C>A (p.Ser2429Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310416] Chr5:112842880 [GRCh38]
Chr5:112178577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.242A>G (p.Asn81Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310417] Chr5:112767210 [GRCh38]
Chr5:112102907 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3061C>A (p.Leu1021Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310419] Chr5:112838655 [GRCh38]
Chr5:112174352 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8268A>G (p.Ile2756Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310420] Chr5:112843862 [GRCh38]
Chr5:112179559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2761G>A (p.Ala921Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310422] Chr5:112838355 [GRCh38]
Chr5:112174052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2680G>A (p.Val894Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310424] Chr5:112838274 [GRCh38]
Chr5:112173971 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.177T>C (p.Ala59=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310425] Chr5:112766367 [GRCh38]
Chr5:112102064 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.377G>T (p.Gly126Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310428] Chr5:112767345 [GRCh38]
Chr5:112103042 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7406C>A (p.Ser2469Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003310431] Chr5:112843000 [GRCh38]
Chr5:112178697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-207C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003535003]|not specified [RCV003321022] Chr5:112707511 [GRCh38]
Chr5:112043208 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4665_4667del (p.Lys1555_Thr1556delinsAsn) deletion not specified [RCV003321033] Chr5:112840259..112840261 [GRCh38]
Chr5:112175956..112175958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1754T>A (p.Leu585His) single nucleotide variant not specified [RCV003321029] Chr5:112834961 [GRCh38]
Chr5:112170658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2020_2030del (p.Leu674fs) deletion Familial adenomatous polyposis 1 [RCV003337554] Chr5:112837609..112837619 [GRCh38]
Chr5:112173306..112173316 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.657C>T (p.Ala219=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339107] Chr5:112792457 [GRCh38]
Chr5:112128154 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4188del (p.Phe1396fs) deletion Familial adenomatous polyposis 1 [RCV003337555] Chr5:112839779 [GRCh38]
Chr5:112175476 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3792_3810del (p.Glu1265fs) deletion Familial adenomatous polyposis 1 [RCV003337559] Chr5:112839383..112839401 [GRCh38]
Chr5:112175080..112175098 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4121A>G (p.Glu1374Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339113] Chr5:112839715 [GRCh38]
Chr5:112175412 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1958+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003337613] Chr5:112835167 [GRCh38]
Chr5:112170864 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3692T>C (p.Leu1231Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339116] Chr5:112839286 [GRCh38]
Chr5:112174983 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.62C>A (p.Ser21Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337651] Chr5:112754952 [GRCh38]
Chr5:112090649 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4603A>C (p.Asn1535His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339112] Chr5:112840197 [GRCh38]
Chr5:112175894 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1879_1880del (p.Asn627fs) deletion Familial adenomatous polyposis 1 [RCV003337661]|Familial adenomatous polyposis 1 [RCV003459843] Chr5:112835085..112835086 [GRCh38]
Chr5:112170782..112170783 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.3465A>T (p.Glu1155Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339125] Chr5:112839059 [GRCh38]
Chr5:112174756 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2154del (p.Ile718fs) deletion Familial adenomatous polyposis 1 [RCV003337567] Chr5:112837747 [GRCh38]
Chr5:112173444 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.151del (p.Leu51fs) deletion Familial adenomatous polyposis 1 [RCV003337620] Chr5:112766341 [GRCh38]
Chr5:112102038 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3249_3250insTA (p.Asp1084Ter) insertion Familial adenomatous polyposis 1 [RCV003337494] Chr5:112838843..112838844 [GRCh38]
Chr5:112174540..112174541 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1767_1783del (p.Leu589fs) deletion Familial adenomatous polyposis 1 [RCV003337489] Chr5:112834971..112834987 [GRCh38]
Chr5:112170668..112170684 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6101C>T (p.Ser2034Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535015]|Hereditary cancer-predisposing syndrome [RCV003339118] Chr5:112841695 [GRCh38]
Chr5:112177392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5202A>C (p.Lys1734Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339104] Chr5:112840796 [GRCh38]
Chr5:112176493 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4067C>A (p.Ser1356Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337569] Chr5:112839661 [GRCh38]
Chr5:112175358 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3068del (p.Thr1023fs) deletion Familial adenomatous polyposis 1 [RCV003337571] Chr5:112838662 [GRCh38]
Chr5:112174359 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4652_4653del (p.Lys1551fs) deletion Familial adenomatous polyposis 1 [RCV003337622] Chr5:112840245..112840246 [GRCh38]
Chr5:112175942..112175943 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5852del (p.Leu1951fs) deletion Familial adenomatous polyposis 1 [RCV003337624] Chr5:112841445 [GRCh38]
Chr5:112177142 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3817A>G (p.Arg1273Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339088] Chr5:112839411 [GRCh38]
Chr5:112175108 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3542del (p.Ser1180_Leu1181insTer) deletion Familial adenomatous polyposis 1 [RCV003337592] Chr5:112839134 [GRCh38]
Chr5:112174831 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3000C>G (p.Tyr1000Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337629] Chr5:112838594 [GRCh38]
Chr5:112174291 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2537_2543del (p.Arg845_Ser846insTer) deletion Familial adenomatous polyposis 1 [RCV003337634] Chr5:112838131..112838137 [GRCh38]
Chr5:112173828..112173834 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.531+1_531+2del deletion Familial adenomatous polyposis 1 [RCV003337504] Chr5:112775737..112775738 [GRCh38]
Chr5:112111434..112111435 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1413dup (p.Leu472fs) duplication Familial adenomatous polyposis 1 [RCV003337635] Chr5:112827111..112827112 [GRCh38]
Chr5:112162808..112162809 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3297T>C (p.Val1099=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339096] Chr5:112838891 [GRCh38]
Chr5:112174588 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.902del (p.Pro301fs) deletion Familial adenomatous polyposis 1 [RCV003337638] Chr5:112815561 [GRCh38]
Chr5:112151258 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6386C>A (p.Ser2129Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337639] Chr5:112841980 [GRCh38]
Chr5:112177677 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2079dup (p.Asp694fs) duplication Familial adenomatous polyposis 1 [RCV003337640] Chr5:112837670..112837671 [GRCh38]
Chr5:112173367..112173368 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1378G>T (p.Glu460Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337641] Chr5:112821961 [GRCh38]
Chr5:112157658 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2674G>A (p.Glu892Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339099] Chr5:112838268 [GRCh38]
Chr5:112173965 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6158C>T (p.Pro2053Leu) single nucleotide variant not provided [RCV003325731] Chr5:112841752 [GRCh38]
Chr5:112177449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1259del (p.Cys420fs) deletion Familial adenomatous polyposis 1 [RCV003337503] Chr5:112819291 [GRCh38]
Chr5:112154988 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7336G>T (p.Glu2446Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337456] Chr5:112842930 [GRCh38]
Chr5:112178627 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1081_1087dup (p.Asn363fs) duplication Familial adenomatous polyposis 1 [RCV003337457] Chr5:112819111..112819112 [GRCh38]
Chr5:112154808..112154809 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1628_1629insA (p.Ile544fs) insertion Familial adenomatous polyposis 1 [RCV003337580] Chr5:112828857..112828858 [GRCh38]
Chr5:112164554..112164555 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.853_859del (p.Asp285fs) deletion Familial adenomatous polyposis 1 [RCV003337581] Chr5:112815510..112815516 [GRCh38]
Chr5:112151207..112151213 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4171A>T (p.Ser1391Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339079] Chr5:112839765 [GRCh38]
Chr5:112175462 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3062_3068del (p.Leu1021fs) deletion Familial adenomatous polyposis 1 [RCV003337497] Chr5:112838654..112838660 [GRCh38]
Chr5:112174351..112174357 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4286A>T (p.Gln1429Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339080] Chr5:112839880 [GRCh38]
Chr5:112175577 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4504T>A (p.Cys1502Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339081] Chr5:112840098 [GRCh38]
Chr5:112175795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.234_235insCT (p.Ser79fs) insertion Familial adenomatous polyposis 1 [RCV003337465] Chr5:112767201..112767202 [GRCh38]
Chr5:112102898..112102899 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4100dup (p.Thr1368fs) duplication Familial adenomatous polyposis 1 [RCV003337666] Chr5:112839693..112839694 [GRCh38]
Chr5:112175390..112175391 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4502del (p.Ser1501fs) deletion Familial adenomatous polyposis 1 [RCV003337512] Chr5:112840096 [GRCh38]
Chr5:112175793 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1986_2013del (p.Gln663fs) deletion Familial adenomatous polyposis 1 [RCV003337514] Chr5:112837577..112837604 [GRCh38]
Chr5:112173274..112173301 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1235del (p.Gln412fs) deletion Familial adenomatous polyposis 1 [RCV003337626] Chr5:112819267 [GRCh38]
Chr5:112154964 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2034T>A (p.Ser678Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339090] Chr5:112837628 [GRCh38]
Chr5:112173325 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4035dup (p.Ser1346fs) duplication Familial adenomatous polyposis 1 [RCV003337628] Chr5:112839627..112839628 [GRCh38]
Chr5:112175324..112175325 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1687_1688del (p.Leu563fs) deletion Familial adenomatous polyposis 1 [RCV003337534] Chr5:112828916..112828917 [GRCh38]
Chr5:112164613..112164614 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3573_3574del (p.Lys1192fs) deletion Familial adenomatous polyposis 1 [RCV003337596] Chr5:112839166..112839167 [GRCh38]
Chr5:112174863..112174864 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4084T>G (p.Ser1362Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339094] Chr5:112839678 [GRCh38]
Chr5:112175375 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3449A>G (p.Glu1150Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339095] Chr5:112839043 [GRCh38]
Chr5:112174740 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1355_1356insAT (p.Leu453fs) insertion Familial adenomatous polyposis 1 [RCV003337636] Chr5:112821937..112821938 [GRCh38]
Chr5:112157634..112157635 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6275T>C (p.Leu2092Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339101] Chr5:112841869 [GRCh38]
Chr5:112177566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.706_710delinsAACA (p.Gln236fs) indel Familial adenomatous polyposis 1 [RCV003337637] Chr5:112792506..112792510 [GRCh38]
Chr5:112128203..112128207 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7488_7489insA (p.Ser2497fs) insertion Hereditary cancer-predisposing syndrome [RCV003339097] Chr5:112843082..112843083 [GRCh38]
Chr5:112178779..112178780 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1343C>T (p.Pro448Leu) single nucleotide variant APC-related condition [RCV003420666]|Hereditary cancer-predisposing syndrome [RCV003339106] Chr5:112821926 [GRCh38]
Chr5:112157623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7472del (p.Met2491fs) deletion Familial adenomatous polyposis 1 [RCV003337438] Chr5:112843066 [GRCh38]
Chr5:112178763 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.688del (p.Arg230fs) deletion Familial adenomatous polyposis 1 [RCV003337480] Chr5:112792488 [GRCh38]
Chr5:112128185 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2507C>G (p.Ser836Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337439] Chr5:112838101 [GRCh38]
Chr5:112173798 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2063C>G (p.Ser688Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337535] Chr5:112837657 [GRCh38]
Chr5:112173354 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4120G>T (p.Glu1374Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337426]|not provided [RCV003325645] Chr5:112839714 [GRCh38]
Chr5:112175411 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.4805del (p.Pro1602fs) deletion Familial adenomatous polyposis 1 [RCV003337542] Chr5:112840398 [GRCh38]
Chr5:112176095 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.773_774del (p.Glu258fs) deletion Familial adenomatous polyposis 1 [RCV003337447] Chr5:112801321..112801322 [GRCh38]
Chr5:112137018..112137019 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1438C>T (p.Gln480Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337540] Chr5:112827137 [GRCh38]
Chr5:112162834 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4462_4463insGTAAT (p.Leu1488fs) insertion Familial adenomatous polyposis 1 [RCV003337543] Chr5:112840055..112840056 [GRCh38]
Chr5:112175752..112175753 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3652dup (p.Thr1218fs) duplication Familial adenomatous polyposis 1 [RCV003337487] Chr5:112839245..112839246 [GRCh38]
Chr5:112174942..112174943 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4441del (p.Val1481fs) deletion Familial adenomatous polyposis 1 [RCV003337525] Chr5:112840034 [GRCh38]
Chr5:112175731 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3748_3752del (p.Lys1250fs) deletion Familial adenomatous polyposis 1 [RCV003337526] Chr5:112839342..112839346 [GRCh38]
Chr5:112175039..112175043 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.834+2T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003337530] Chr5:112801385 [GRCh38]
Chr5:112137082 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4691T>A (p.Leu1564Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337459] Chr5:112840285 [GRCh38]
Chr5:112175982 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4386_4387delinsTT (p.Lys1462_Arg1463delinsAsnTer) indel Familial adenomatous polyposis 1 [RCV003337484] Chr5:112839980..112839981 [GRCh38]
Chr5:112175677..112175678 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5428_5452del (p.Asp1810fs) deletion Familial adenomatous polyposis 1 [RCV003337485] Chr5:112841019..112841043 [GRCh38]
Chr5:112176716..112176740 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6747del (p.Gly2250fs) deletion Familial adenomatous polyposis 1 [RCV003337513] Chr5:112842336 [GRCh38]
Chr5:112178033 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5644_5648del (p.Arg1882fs) deletion Familial adenomatous polyposis 1 [RCV003337464] Chr5:112841237..112841241 [GRCh38]
Chr5:112176934..112176938 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.544del (p.Thr182fs) deletion Familial adenomatous polyposis 1 [RCV003337428] Chr5:112780800 [GRCh38]
Chr5:112116497 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4152dup (p.Ser1385Ter) duplication Familial adenomatous polyposis 1 [RCV003337466] Chr5:112839743..112839744 [GRCh38]
Chr5:112175440..112175441 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4555del (p.Asp1519fs) deletion Familial adenomatous polyposis 1 [RCV003337468] Chr5:112840149 [GRCh38]
Chr5:112175846 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7733C>G (p.Ser2578Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337469] Chr5:112843327 [GRCh38]
Chr5:112179024 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.618del (p.Cys207fs) deletion Familial adenomatous polyposis 1 [RCV003337529] Chr5:112780875 [GRCh38]
Chr5:112116572 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3564T>G (p.Pro1188=) single nucleotide variant not provided [RCV003327157] Chr5:112839158 [GRCh38]
Chr5:112174855 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3971del (p.Pro1324fs) deletion Familial adenomatous polyposis 1 [RCV003337680] Chr5:112839564 [GRCh38]
Chr5:112175261 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3325_3326del (p.Gly1109fs) deletion Familial adenomatous polyposis 1 [RCV003337553] Chr5:112838919..112838920 [GRCh38]
Chr5:112174616..112174617 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2468C>A (p.Ser823Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337557] Chr5:112838062 [GRCh38]
Chr5:112173759 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4002C>G (p.Ser1334=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339119] Chr5:112839596 [GRCh38]
Chr5:112175293 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7484C>G (p.Thr2495Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339126] Chr5:112843078 [GRCh38]
Chr5:112178775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3429T>A (p.Tyr1143Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337558]|Hereditary cancer-predisposing syndrome [RCV003585383] Chr5:112839023 [GRCh38]
Chr5:112174720 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4333del (p.Thr1445fs) deletion Familial adenomatous polyposis 1 [RCV003337510] Chr5:112839925 [GRCh38]
Chr5:112175622 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3610C>T (p.Gln1204Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337561] Chr5:112839204 [GRCh38]
Chr5:112174901 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4651A>T (p.Lys1551Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337643] Chr5:112840245 [GRCh38]
Chr5:112175942 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1958_1958+1insT insertion Familial adenomatous polyposis 1 [RCV003337644] Chr5:112835165..112835166 [GRCh38]
Chr5:112170862..112170863 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2845_2846dup (p.Met949fs) duplication Familial adenomatous polyposis 1 [RCV003337646]|Familial adenomatous polyposis 1 [RCV003535012] Chr5:112838437..112838438 [GRCh38]
Chr5:112174134..112174135 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.536C>A (p.Ser179Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339120] Chr5:112780794 [GRCh38]
Chr5:112116491 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-12A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003337563] Chr5:112775617 [GRCh38]
Chr5:112111314 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.511dup (p.Ser171fs) duplication Familial adenomatous polyposis 1 [RCV003337564] Chr5:112775716..112775717 [GRCh38]
Chr5:112111413..112111414 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4644_4653del (p.Asn1548fs) deletion Familial adenomatous polyposis 1 [RCV003337566] Chr5:112840235..112840244 [GRCh38]
Chr5:112175932..112175941 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2204_2208del (p.Ala735fs) deletion Familial adenomatous polyposis 1 [RCV003337608] Chr5:112837797..112837801 [GRCh38]
Chr5:112173494..112173498 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1210dup (p.Ile404fs) duplication Familial adenomatous polyposis 1 [RCV003337609] Chr5:112819239..112819240 [GRCh38]
Chr5:112154936..112154937 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4090del (p.Ser1364fs) deletion Familial adenomatous polyposis 1 [RCV003337610] Chr5:112839681 [GRCh38]
Chr5:112175378 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4307G>T (p.Ser1436Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339122] Chr5:112839901 [GRCh38]
Chr5:112175598 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3595_3598del (p.Lys1199fs) deletion Familial adenomatous polyposis 1 [RCV003337570] Chr5:112839188..112839191 [GRCh38]
Chr5:112174885..112174888 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4295dup (p.Pro1433fs) duplication Familial adenomatous polyposis 1 [RCV003337572] Chr5:112839887..112839888 [GRCh38]
Chr5:112175584..112175585 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3093T>G (p.Tyr1031Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337573] Chr5:112838687 [GRCh38]
Chr5:112174384 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2359_2360del (p.Arg786_Ser787insTer) deletion Familial adenomatous polyposis 1 [RCV003337576] Chr5:112837953..112837954 [GRCh38]
Chr5:112173650..112173651 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7932_7933delinsA (p.Tyr2645fs) indel Familial adenomatous polyposis 1 [RCV003337577] Chr5:112843526..112843527 [GRCh38]
Chr5:112179223..112179224 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3183del (p.Lys1061fs) deletion Familial adenomatous polyposis 1 [RCV003337612]|Familial adenomatous polyposis 1 [RCV003535011] Chr5:112838774 [GRCh38]
Chr5:112174471 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4132del (p.Gln1378fs) deletion Familial adenomatous polyposis 1 [RCV003337614] Chr5:112839726 [GRCh38]
Chr5:112175423 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1188dup (p.Asp397Ter) duplication Familial adenomatous polyposis 1 [RCV003337653] Chr5:112819219..112819220 [GRCh38]
Chr5:112154916..112154917 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2630del (p.Gly877fs) deletion Familial adenomatous polyposis 1 [RCV003337582] Chr5:112838223 [GRCh38]
Chr5:112173920 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4092_4347del (p.Gly1365fs) deletion Familial adenomatous polyposis 1 [RCV003337616] Chr5:112839683..112839938 [GRCh38]
Chr5:112175380..112175635 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2869_2870del (p.Lys957fs) deletion Familial adenomatous polyposis 1 [RCV003337589] Chr5:112838463..112838464 [GRCh38]
Chr5:112174160..112174161 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4943_4944del (p.Pro1648fs) deletion Familial adenomatous polyposis 1 [RCV003337590] Chr5:112840537..112840538 [GRCh38]
Chr5:112176234..112176235 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1558_1565del (p.Cys520fs) deletion Familial adenomatous polyposis 1 [RCV003337597] Chr5:112827938..112827945 [GRCh38]
Chr5:112163635..112163642 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3286_3308del (p.Gln1096fs) deletion Familial adenomatous polyposis 1 [RCV003337691] Chr5:112838876..112838898 [GRCh38]
Chr5:112174573..112174595 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4734dup (p.Ile1579fs) duplication Familial adenomatous polyposis 1 [RCV003337615] Chr5:112840327..112840328 [GRCh38]
Chr5:112176024..112176025 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1479C>G (p.Tyr493Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337623] Chr5:112827178 [GRCh38]
Chr5:112162875 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5375dup (p.Asn1792fs) duplication Familial adenomatous polyposis 1 [RCV003337508] Chr5:112840963..112840964 [GRCh38]
Chr5:112176660..112176661 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3225del (p.Pro1076fs) deletion Familial adenomatous polyposis 1 [RCV003337507] Chr5:112838819 [GRCh38]
Chr5:112174516 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.824_825delinsA (p.Gly275fs) indel Familial adenomatous polyposis 1 [RCV003337617] Chr5:112801373..112801374 [GRCh38]
Chr5:112137070..112137071 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2863G>T (p.Glu955Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337618] Chr5:112838457 [GRCh38]
Chr5:112174154 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6579dup (p.Val2194fs) duplication Familial adenomatous polyposis 1 [RCV003337690] Chr5:112842166..112842167 [GRCh38]
Chr5:112177863..112177864 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2572del (p.Ile858fs) deletion Familial adenomatous polyposis 1 [RCV003337667] Chr5:112838165 [GRCh38]
Chr5:112173862 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3640_3643del (p.Ser1214fs) deletion Familial adenomatous polyposis 1 [RCV003337668] Chr5:112839232..112839235 [GRCh38]
Chr5:112174929..112174932 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3980C>A (p.Ser1327Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337669] Chr5:112839574 [GRCh38]
Chr5:112175271 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.23_31delinsC (p.Gln8fs) indel Familial adenomatous polyposis 1 [RCV003337506] Chr5:112754913..112754921 [GRCh38]
Chr5:112090610..112090618 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3897dup (p.Asn1300Ter) duplication Familial adenomatous polyposis 1 [RCV003337502] Chr5:112839490..112839491 [GRCh38]
Chr5:112175187..112175188 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4592del (p.Asn1531fs) deletion Familial adenomatous polyposis 1 [RCV003337441] Chr5:112840183 [GRCh38]
Chr5:112175880 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2315del (p.Thr772fs) deletion Familial adenomatous polyposis 1 [RCV003337501] Chr5:112837909 [GRCh38]
Chr5:112173606 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3679A>T (p.Arg1227Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339078] Chr5:112839273 [GRCh38]
Chr5:112174970 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4476del (p.Thr1493fs) deletion Familial adenomatous polyposis 1 [RCV003337500] Chr5:112840069 [GRCh38]
Chr5:112175766 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3095C>G (p.Ser1032Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337498] Chr5:112838689 [GRCh38]
Chr5:112174386 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.476del (p.Tyr159fs) deletion Familial adenomatous polyposis 1 [RCV003337671] Chr5:112775682 [GRCh38]
Chr5:112111379 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5998A>T (p.Ser2000Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339083] Chr5:112841592 [GRCh38]
Chr5:112177289 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6678A>G (p.Arg2226=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339087] Chr5:112842272 [GRCh38]
Chr5:112177969 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3279del (p.Phe1093fs) deletion Familial adenomatous polyposis 1 [RCV003337627] Chr5:112838870 [GRCh38]
Chr5:112174567 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4588G>T (p.Glu1530Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337688] Chr5:112840182 [GRCh38]
Chr5:112175879 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7300del (p.Arg2434fs) deletion Familial adenomatous polyposis 1 [RCV003337458] Chr5:112842892 [GRCh38]
Chr5:112178589 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.5058dup (p.Arg1687fs) duplication Familial adenomatous polyposis 1 [RCV003337461] Chr5:112840647..112840648 [GRCh38]
Chr5:112176344..112176345 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1958+1del deletion Familial adenomatous polyposis 1 [RCV003337462] Chr5:112835165 [GRCh38]
Chr5:112170862 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7663_7666del (p.Ser2555fs) deletion Familial adenomatous polyposis 1 [RCV003337496] Chr5:112843254..112843257 [GRCh38]
Chr5:112178951..112178954 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7966_7968delinsTA (p.Glu2655_Asp2656insTer) indel Familial adenomatous polyposis 1 [RCV003337495] Chr5:112843560..112843562 [GRCh38]
Chr5:112179257..112179259 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5127C>A (p.Thr1709=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339082] Chr5:112840721 [GRCh38]
Chr5:112176418 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7288G>A (p.Asp2430Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339100] Chr5:112842882 [GRCh38]
Chr5:112178579 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6419C>G (p.Ser2140Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337686] Chr5:112842013 [GRCh38]
Chr5:112177710 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4182_4183del (p.Asp1394fs) deletion Familial adenomatous polyposis 1 [RCV003337479] Chr5:112839775..112839776 [GRCh38]
Chr5:112175472..112175473 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6365dup (p.Cys2123fs) duplication Familial adenomatous polyposis 1 [RCV003337492] Chr5:112841958..112841959 [GRCh38]
Chr5:112177655..112177656 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1900dup (p.Ser634fs) duplication Familial adenomatous polyposis 1 [RCV003149087] Chr5:112835104..112835105 [GRCh38]
Chr5:112170801..112170802 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3426_3427dup (p.Tyr1143fs) duplication Familial adenomatous polyposis 1 [RCV003337602] Chr5:112839019..112839020 [GRCh38]
Chr5:112174716..112174717 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.586dup (p.Ile196fs) duplication Familial adenomatous polyposis 1 [RCV003337603] Chr5:112780841..112780842 [GRCh38]
Chr5:112116538..112116539 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4166_4167del (p.Ser1389fs) deletion Familial adenomatous polyposis 1 [RCV003337604] Chr5:112839759..112839760 [GRCh38]
Chr5:112175456..112175457 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.573_580del (p.Tyr191_Arg194delinsTer) deletion Familial adenomatous polyposis 1 [RCV003337647]|Familial adenomatous polyposis 1 [RCV003745586] Chr5:112780830..112780837 [GRCh38]
Chr5:112116527..112116534 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.959C>A (p.Ser320Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337562]|Familial multiple polyposis syndrome [RCV003988110] Chr5:112818991 [GRCh38]
Chr5:112154688 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1511_1515del (p.Ala504fs) deletion Familial adenomatous polyposis 1 [RCV003337605] Chr5:112827209..112827213 [GRCh38]
Chr5:112162906..112162910 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4408delinsAC (p.Ala1470fs) indel Familial adenomatous polyposis 1 [RCV003337606] Chr5:112840002 [GRCh38]
Chr5:112175699 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.620dup (p.Cys207fs) duplication Familial adenomatous polyposis 1 [RCV003337652] Chr5:112780877..112780878 [GRCh38]
Chr5:112116574..112116575 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4169del (p.Val1390fs) deletion Familial adenomatous polyposis 1 [RCV003337693] Chr5:112839763 [GRCh38]
Chr5:112175460 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.517_520del (p.Leu172_Pro173insTer) deletion Familial adenomatous polyposis 1 [RCV003337565] Chr5:112775720..112775723 [GRCh38]
Chr5:112111417..112111420 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5803_5804del (p.Gln1935fs) deletion Familial adenomatous polyposis 1 [RCV003337621] Chr5:112841397..112841398 [GRCh38]
Chr5:112177094..112177095 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6360_6377delinsAA (p.Ala2121fs) indel Familial adenomatous polyposis 1 [RCV003337505] Chr5:112841954..112841971 [GRCh38]
Chr5:112177651..112177668 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5278C>G (p.Pro1760Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339117] Chr5:112840872 [GRCh38]
Chr5:112176569 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1960C>T (p.Gln654Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337657] Chr5:112837554 [GRCh38]
Chr5:112173251 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4304G>T (p.Arg1435Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339121] Chr5:112839898 [GRCh38]
Chr5:112175595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4654G>T (p.Glu1552Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337574] Chr5:112840248 [GRCh38]
Chr5:112175945 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1247dup (p.Tyr416Ter) duplication Familial adenomatous polyposis 1 [RCV003337575] Chr5:112819278..112819279 [GRCh38]
Chr5:112154975..112154976 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7344A>C (p.Pro2448=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339123] Chr5:112842938 [GRCh38]
Chr5:112178635 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.385G>T (p.Glu129Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337578] Chr5:112767353 [GRCh38]
Chr5:112103050 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4165dup (p.Ser1389fs) duplication Familial adenomatous polyposis 1 [RCV003337499] Chr5:112839757..112839758 [GRCh38]
Chr5:112175454..112175455 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6796dup (p.Thr2266fs) duplication Familial adenomatous polyposis 1 [RCV003337448] Chr5:112842387..112842388 [GRCh38]
Chr5:112178084..112178085 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1539_1548del (p.Ala514fs) deletion Familial adenomatous polyposis 1 [RCV003337452] Chr5:112827238..112827247 [GRCh38]
Chr5:112162935..112162944 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6620C>A (p.Ser2207Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337658] Chr5:112842214 [GRCh38]
Chr5:112177911 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7318C>T (p.Gln2440Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337662] Chr5:112842912 [GRCh38]
Chr5:112178609 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.893_896del (p.His298fs) deletion Familial adenomatous polyposis 1 [RCV003337493] Chr5:112815552..112815555 [GRCh38]
Chr5:112151249..112151252 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7144del (p.Thr2382fs) deletion Familial adenomatous polyposis 1 [RCV003337490] Chr5:112842736 [GRCh38]
Chr5:112178433 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3524del (p.Gln1175fs) deletion Familial adenomatous polyposis 1 [RCV003337663] Chr5:112839118 [GRCh38]
Chr5:112174815 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.956T>A (p.Leu319Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337664] Chr5:112818988 [GRCh38]
Chr5:112154685 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4230C>A (p.Cys1410Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337584] Chr5:112839824 [GRCh38]
Chr5:112175521 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.899del (p.Ala300fs) deletion Familial adenomatous polyposis 1 [RCV003337587] Chr5:112815559 [GRCh38]
Chr5:112151256 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4253T>C (p.Ile1418Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339086] Chr5:112839847 [GRCh38]
Chr5:112175544 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4654delinsAA (p.Glu1552fs) indel Familial adenomatous polyposis 1 [RCV003337488] Chr5:112840248 [GRCh38]
Chr5:112175945 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3164_3165del (p.Ile1055fs) deletion Familial adenomatous polyposis 1 [RCV003337531]|Familial adenomatous polyposis 1 [RCV003535007] Chr5:112838757..112838758 [GRCh38]
Chr5:112174454..112174455 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1388dup (p.His464fs) duplication Familial adenomatous polyposis 1 [RCV003337560] Chr5:112821970..112821971 [GRCh38]
Chr5:112157667..112157668 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5646_5649del (p.Lys1883fs) deletion Familial adenomatous polyposis 1 [RCV003337517]|Familial adenomatous polyposis 1 [RCV003535006] Chr5:112841237..112841240 [GRCh38]
Chr5:112176934..112176937 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1907dup (p.Gly637fs) duplication Familial adenomatous polyposis 1 [RCV003337591] Chr5:112835112..112835113 [GRCh38]
Chr5:112170809..112170810 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4132dup (p.Gln1378fs) duplication Familial adenomatous polyposis 1 [RCV003337509] Chr5:112839725..112839726 [GRCh38]
Chr5:112175422..112175423 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2403dup (p.Asp802Ter) duplication Familial adenomatous polyposis 1 [RCV003337593] Chr5:112837992..112837993 [GRCh38]
Chr5:112173689..112173690 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2122_2123insTTCATTCATGCTCA (p.Lys708fs) insertion Hereditary cancer-predisposing syndrome [RCV003339093] Chr5:112837708..112837709 [GRCh38]
Chr5:112173405..112173406 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2274del (p.Ala759fs) deletion Familial adenomatous polyposis 1 [RCV003337670] Chr5:112837864 [GRCh38]
Chr5:112173561 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3206_3213del (p.Arg1069fs) deletion Familial adenomatous polyposis 1 [RCV003337594] Chr5:112838794..112838801 [GRCh38]
Chr5:112174491..112174498 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3199_3200del (p.Gln1067fs) deletion Familial adenomatous polyposis 1 [RCV003337598] Chr5:112838792..112838793 [GRCh38]
Chr5:112174489..112174490 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.804A>T (p.Glu268Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339098] Chr5:112801353 [GRCh38]
Chr5:112137050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.823G>A (p.Gly275Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339103] Chr5:112801372 [GRCh38]
Chr5:112137069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3704C>G (p.Ser1235Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339105] Chr5:112839298 [GRCh38]
Chr5:112174995 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4046del (p.His1349fs) deletion Familial adenomatous polyposis 1 [RCV003337552] Chr5:112839640 [GRCh38]
Chr5:112175337 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1429G>T (p.Glu477Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337600] Chr5:112827128 [GRCh38]
Chr5:112162825 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4429C>T (p.Gln1477Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337601] Chr5:112840023 [GRCh38]
Chr5:112175720 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2921dup (p.Gly974_Lys975insTer) duplication Familial adenomatous polyposis 1 [RCV003337642] Chr5:112838513..112838514 [GRCh38]
Chr5:112174210..112174211 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1599_1600insGGCTACGCTATGCTCTATGAAAGGCTGCATGAAGAGCCTTGTGCGCCAACTA (p.Lys534fs) insertion Familial adenomatous polyposis 1 [RCV003337645] Chr5:112827972..112827973 [GRCh38]
Chr5:112163669..112163670 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5331del (p.Lys1777fs) deletion Familial adenomatous polyposis 1 [RCV003337442] Chr5:112840922 [GRCh38]
Chr5:112176619 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7074del (p.Ser2359fs) deletion Familial adenomatous polyposis 1 [RCV003337443] Chr5:112842667 [GRCh38]
Chr5:112178364 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.135+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003336849] Chr5:112755026 [GRCh38]
Chr5:112090723 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2803dup (p.Tyr935fs) duplication Familial adenomatous polyposis 1 [RCV003336850] Chr5:112838395..112838396 [GRCh38]
Chr5:112174092..112174093 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1559del (p.Cys520fs) deletion Familial adenomatous polyposis 1 [RCV003337444] Chr5:112827939 [GRCh38]
Chr5:112163636 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.645+1del deletion Familial adenomatous polyposis 1 [RCV003337445] Chr5:112780903 [GRCh38]
Chr5:112116600 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1452_1455del (p.Glu484fs) deletion Familial adenomatous polyposis 1 [RCV003337545] Chr5:112827151..112827154 [GRCh38]
Chr5:112162848..112162851 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6474del (p.Phe2159fs) deletion Familial adenomatous polyposis 1 [RCV003336851]|Familial adenomatous polyposis 1 [RCV003485929] Chr5:112842066 [GRCh38]
Chr5:112177763 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.7582del (p.Ile2528fs) deletion Familial adenomatous polyposis 1 [RCV003337449] Chr5:112843176 [GRCh38]
Chr5:112178873 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1160_1164del (p.Leu387fs) deletion Familial adenomatous polyposis 1 [RCV003337450] Chr5:112819189..112819193 [GRCh38]
Chr5:112154886..112154890 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5835del (p.Ala1946fs) deletion Familial adenomatous polyposis 1 [RCV003337486] Chr5:112841429 [GRCh38]
Chr5:112177126 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.465dup (p.Asp156fs) duplication Familial adenomatous polyposis 1 [RCV003337451] Chr5:112775666..112775667 [GRCh38]
Chr5:112111363..112111364 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.851_854del (p.Met284fs) deletion Familial adenomatous polyposis 1 [RCV003337454] Chr5:112815510..112815513 [GRCh38]
Chr5:112151207..112151210 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3758del (p.Ser1253fs) deletion Familial adenomatous polyposis 1 [RCV003337516] Chr5:112839352 [GRCh38]
Chr5:112175049 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1774_1787del (p.Leu592fs) deletion Familial adenomatous polyposis 1 [RCV003337520] Chr5:112834980..112834993 [GRCh38]
Chr5:112170677..112170690 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2547_2548del (p.Asp849fs) deletion Familial adenomatous polyposis 1 [RCV003337522] Chr5:112838140..112838141 [GRCh38]
Chr5:112173837..112173838 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.753_754del (p.Glu251fs) deletion Familial adenomatous polyposis 1 [RCV003337533] Chr5:112801301..112801302 [GRCh38]
Chr5:112136998..112136999 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3055G>T (p.Gly1019Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337431] Chr5:112838649 [GRCh38]
Chr5:112174346 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1994_2006del (p.Thr664_Leu665insTer) deletion Familial adenomatous polyposis 1 [RCV003337473] Chr5:112837584..112837596 [GRCh38]
Chr5:112173281..112173293 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4343_4353del (p.Thr1448fs) deletion Familial adenomatous polyposis 1 [RCV003337475] Chr5:112839935..112839945 [GRCh38]
Chr5:112175632..112175642 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7692G>A (p.Trp2564Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337432] Chr5:112843286 [GRCh38]
Chr5:112178983 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7871del (p.Asn2624fs) deletion Familial adenomatous polyposis 1 [RCV003337476] Chr5:112843463 [GRCh38]
Chr5:112179160 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6149dup (p.Lys2051fs) duplication Familial adenomatous polyposis 1 [RCV003337477]|Familial adenomatous polyposis 1 [RCV003745584] Chr5:112841737..112841738 [GRCh38]
Chr5:112177434..112177435 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3502del (p.Glu1168fs) deletion Familial adenomatous polyposis 1 [RCV003337435] Chr5:112839096 [GRCh38]
Chr5:112174793 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6985dup (p.Ile2329fs) duplication Familial adenomatous polyposis 1 [RCV003337436] Chr5:112842577..112842578 [GRCh38]
Chr5:112178274..112178275 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1255dup (p.Thr419fs) duplication Familial adenomatous polyposis 1 [RCV003337437] Chr5:112819284..112819285 [GRCh38]
Chr5:112154981..112154982 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.950C>G (p.Ser317Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337588] Chr5:112818982 [GRCh38]
Chr5:112154679 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8427G>T (p.Val2809=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339124] Chr5:112844021 [GRCh38]
Chr5:112179718 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3040dup (p.Met1014fs) duplication Familial adenomatous polyposis 1 [RCV003337556] Chr5:112838633..112838634 [GRCh38]
Chr5:112174330..112174331 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.184del (p.Ser62fs) deletion Familial adenomatous polyposis 1 [RCV003337611] Chr5:112766373 [GRCh38]
Chr5:112102070 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4418del (p.Asn1473fs) deletion Familial adenomatous polyposis 1 [RCV003337648] Chr5:112840010 [GRCh38]
Chr5:112175707 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1099dup (p.Ser367fs) duplication Familial adenomatous polyposis 1 [RCV003337649] Chr5:112819130..112819131 [GRCh38]
Chr5:112154827..112154828 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4274_4277dup (p.Ser1426delinsArgTer) duplication Familial adenomatous polyposis 1 [RCV003337650] Chr5:112839865..112839866 [GRCh38]
Chr5:112175562..112175563 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2945del (p.Pro981_Ser982insTer) deletion Familial adenomatous polyposis 1 [RCV003337654] Chr5:112838539 [GRCh38]
Chr5:112174236 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3539_3548del (p.Ser1180fs) deletion Familial adenomatous polyposis 1 [RCV003337692] Chr5:112839130..112839139 [GRCh38]
Chr5:112174827..112174836 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3578dup (p.Ser1194fs) duplication Familial adenomatous polyposis 1 [RCV003337579] Chr5:112839171..112839172 [GRCh38]
Chr5:112174868..112174869 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1021C>T (p.Gln341Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337619] Chr5:112819053 [GRCh38]
Chr5:112154750 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.642del (p.Gln215fs) deletion Familial adenomatous polyposis 1 [RCV003337656] Chr5:112780900 [GRCh38]
Chr5:112116597 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3311dup (p.Arg1105fs) duplication Familial adenomatous polyposis 1 [RCV003337674] Chr5:112838904..112838905 [GRCh38]
Chr5:112174601..112174602 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1748C>A (p.Ser583Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337583] Chr5:112834955 [GRCh38]
Chr5:112170652 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3778C>T (p.Gln1260Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337585] Chr5:112839372 [GRCh38]
Chr5:112175069 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3617del (p.Ser1206fs) deletion Familial adenomatous polyposis 1 [RCV003337586] Chr5:112839211 [GRCh38]
Chr5:112174908 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.621C>A (p.Cys207Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337659] Chr5:112780879 [GRCh38]
Chr5:112116576 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.383del (p.Arg128fs) deletion Familial adenomatous polyposis 1 [RCV003337660] Chr5:112767351 [GRCh38]
Chr5:112103048 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3708dup (p.Gln1237fs) duplication Familial adenomatous polyposis 1 [RCV003337665] Chr5:112839301..112839302 [GRCh38]
Chr5:112174998..112174999 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8025del (p.Thr2676fs) deletion Familial adenomatous polyposis 1 [RCV003337429] Chr5:112843617 [GRCh38]
Chr5:112179314 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2149dup (p.Met717fs) duplication Familial adenomatous polyposis 1 [RCV003337595] Chr5:112837739..112837740 [GRCh38]
Chr5:112173436..112173437 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.834+2T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003337599] Chr5:112801385 [GRCh38]
Chr5:112137082 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6950T>G (p.Leu2317Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337689] Chr5:112842544 [GRCh38]
Chr5:112178241 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6303G>A (p.Trp2101Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337678] Chr5:112841897 [GRCh38]
Chr5:112177594 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5348del (p.Thr1783fs) deletion Familial adenomatous polyposis 1 [RCV003337687] Chr5:112840942 [GRCh38]
Chr5:112176639 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3510dup (p.Arg1171fs) duplication Familial adenomatous polyposis 1 [RCV003337679] Chr5:112839101..112839102 [GRCh38]
Chr5:112174798..112174799 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4528del (p.Ser1510fs) deletion Familial adenomatous polyposis 1 [RCV003337676] Chr5:112840122 [GRCh38]
Chr5:112175819 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1619T>G (p.Leu540Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337675] Chr5:112827999 [GRCh38]
Chr5:112163696 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1327G>T (p.Glu443Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337685] Chr5:112821910 [GRCh38]
Chr5:112157607 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7709C>A (p.Ser2570Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337532] Chr5:112843303 [GRCh38]
Chr5:112179000 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4317_4318del (p.Pro1440fs) deletion Familial adenomatous polyposis 1 [RCV003337491] Chr5:112839910..112839911 [GRCh38]
Chr5:112175607..112175608 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6216A>T (p.Leu2072Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339084] Chr5:112841810 [GRCh38]
Chr5:112177507 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8197C>A (p.Gln2733Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339085] Chr5:112843791 [GRCh38]
Chr5:112179488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.395del (p.Gly132fs) deletion Familial adenomatous polyposis 1 [RCV003337694] Chr5:112767362 [GRCh38]
Chr5:112103059 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6094_6103delinsTCTCTT (p.Ile2032fs) indel Familial adenomatous polyposis 1 [RCV003337655] Chr5:112841688..112841697 [GRCh38]
Chr5:112177385..112177394 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4160_4161del (p.Cys1387fs) deletion Familial adenomatous polyposis 1 [RCV003337684] Chr5:112839753..112839754 [GRCh38]
Chr5:112175450..112175451 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1619_1620insGG (p.Gln541fs) insertion Familial adenomatous polyposis 1 [RCV003337673] Chr5:112827999..112828000 [GRCh38]
Chr5:112163696..112163697 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3196dup (p.Arg1066fs) duplication Familial adenomatous polyposis 1 [RCV003337672] Chr5:112838787..112838788 [GRCh38]
Chr5:112174484..112174485 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1545_1548+8del deletion Familial adenomatous polyposis 1 [RCV003337515] Chr5:112827244..112827255 [GRCh38]
Chr5:112162941..112162952 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5906del (p.Leu1969fs) deletion Familial adenomatous polyposis 1 [RCV003337544] Chr5:112841500 [GRCh38]
Chr5:112177197 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3714del (p.Ser1238fs) deletion Familial adenomatous polyposis 1 [RCV003337546] Chr5:112839308 [GRCh38]
Chr5:112175005 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.449_450del (p.Lys150fs) deletion Familial adenomatous polyposis 1 [RCV003337547] Chr5:112775654..112775655 [GRCh38]
Chr5:112111351..112111352 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7081T>C (p.Ser2361Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339110] Chr5:112842675 [GRCh38]
Chr5:112178372 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5854C>T (p.Gln1952Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337683] Chr5:112841448 [GRCh38]
Chr5:112177145 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6983C>G (p.Ser2328Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337677] Chr5:112842577 [GRCh38]
Chr5:112178274 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2156dup (p.Met720fs) duplication Familial adenomatous polyposis 1 [RCV003337524] Chr5:112837749..112837750 [GRCh38]
Chr5:112173446..112173447 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3173dup (p.Asp1058fs) duplication Familial adenomatous polyposis 1 [RCV003337527] Chr5:112838766..112838767 [GRCh38]
Chr5:112174463..112174464 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5369G>C (p.Arg1790Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003777483]|Hereditary cancer-predisposing syndrome [RCV003339092] Chr5:112840963 [GRCh38]
Chr5:112176660 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3595_3596dup (p.Ser1200fs) duplication Familial adenomatous polyposis 1 [RCV003337631] Chr5:112839187..112839188 [GRCh38]
Chr5:112174884..112174885 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2841T>A (p.Cys947Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337632] Chr5:112838435 [GRCh38]
Chr5:112174132 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.135+5C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339111] Chr5:112755030 [GRCh38]
Chr5:112090727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1478A>T (p.Tyr493Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339102] Chr5:112827177 [GRCh38]
Chr5:112162874 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1963del (p.Ile655fs) deletion Familial adenomatous polyposis 1 [RCV003337568] Chr5:112837555 [GRCh38]
Chr5:112173252 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2879C>G (p.Ser960Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337633] Chr5:112838473 [GRCh38]
Chr5:112174170 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4092T>C (p.Ser1364=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339114] Chr5:112839686 [GRCh38]
Chr5:112175383 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.128A>G (p.Asn43Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339109] Chr5:112755018 [GRCh38]
Chr5:112090715 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6121G>T (p.Glu2041Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337681] Chr5:112841715 [GRCh38]
Chr5:112177412 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4778_4780delinsGG (p.Lys1593fs) indel Familial adenomatous polyposis 1 [RCV003337538] Chr5:112840372..112840374 [GRCh38]
Chr5:112176069..112176071 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1192A>T (p.Lys398Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337539] Chr5:112819224 [GRCh38]
Chr5:112154921 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5768del (p.Pro1923fs) deletion Familial adenomatous polyposis 1 [RCV003337541] Chr5:112841361 [GRCh38]
Chr5:112177058 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1630del (p.Ile544fs) deletion Familial adenomatous polyposis 1 [RCV003337551] Chr5:112828859 [GRCh38]
Chr5:112164556 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3255dup (p.His1086fs) duplication Familial adenomatous polyposis 1 [RCV003337536]|Familial adenomatous polyposis 1 [RCV003535008] Chr5:112838846..112838847 [GRCh38]
Chr5:112174543..112174544 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2055G>A (p.Trp685Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337537] Chr5:112837649 [GRCh38]
Chr5:112173346 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1939G>C (p.Ala647Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339115] Chr5:112835146 [GRCh38]
Chr5:112170843 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4391del (p.Glu1464fs) deletion Familial adenomatous polyposis 1 [RCV003337511] Chr5:112839985 [GRCh38]
Chr5:112175682 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5819T>A (p.Ile1940Lys) single nucleotide variant not provided [RCV003329631] Chr5:112841413 [GRCh38]
Chr5:112177110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7355T>G (p.Leu2452Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337427] Chr5:112842949 [GRCh38]
Chr5:112178646 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3502G>T (p.Glu1168Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337430] Chr5:112839096 [GRCh38]
Chr5:112174793 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4128T>G (p.Tyr1376Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337433] Chr5:112839722 [GRCh38]
Chr5:112175419 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3469G>T (p.Glu1157Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337434] Chr5:112839063 [GRCh38]
Chr5:112174760 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1840dup (p.Ala614fs) duplication Familial adenomatous polyposis 1 [RCV003337446] Chr5:112835046..112835047 [GRCh38]
Chr5:112170743..112170744 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2258del (p.His753fs) deletion Familial adenomatous polyposis 1 [RCV003337455]|Familial adenomatous polyposis 1 [RCV003649448] Chr5:112837852 [GRCh38]
Chr5:112173549 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8090C>G (p.Ser2697Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337460] Chr5:112843684 [GRCh38]
Chr5:112179381 [GRCh37]
Chr5:5q22.2		 pathogenic|conflicting interpretations of pathogenicity
NM_000038.6(APC):c.4742del (p.Ser1581fs) deletion Familial adenomatous polyposis 1 [RCV003337463] Chr5:112840336 [GRCh38]
Chr5:112176033 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4374_4383dup (p.Lys1462delinsTyrCysTer) duplication Familial adenomatous polyposis 1 [RCV003337467] Chr5:112839967..112839968 [GRCh38]
Chr5:112175664..112175665 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.758_759delinsT (p.Gly253fs) indel Familial adenomatous polyposis 1 [RCV003337470]|Familial adenomatous polyposis 1 [RCV003535005] Chr5:112801307..112801308 [GRCh38]
Chr5:112137004..112137005 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.258del (p.Lys86fs) deletion Familial adenomatous polyposis 1 [RCV003337471] Chr5:112767223 [GRCh38]
Chr5:112102920 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.494_495del (p.Leu165fs) microsatellite Familial adenomatous polyposis 1 [RCV003337472] Chr5:112775698..112775699 [GRCh38]
Chr5:112111395..112111396 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3863del (p.Gly1288fs) deletion Familial adenomatous polyposis 1 [RCV003337474] Chr5:112839456 [GRCh38]
Chr5:112175153 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.923dup (p.Thr310fs) duplication Familial adenomatous polyposis 1 [RCV003337478] Chr5:112815582..112815583 [GRCh38]
Chr5:112151279..112151280 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4119del (p.Glu1374fs) deletion Familial adenomatous polyposis 1 [RCV003337481] Chr5:112839713 [GRCh38]
Chr5:112175410 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2688del (p.Ile897fs) deletion Familial adenomatous polyposis 1 [RCV003337518] Chr5:112838281 [GRCh38]
Chr5:112173978 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4845C>G (p.Tyr1615Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337521] Chr5:112840439 [GRCh38]
Chr5:112176136 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3470del (p.Glu1157fs) deletion Familial adenomatous polyposis 1 [RCV003336855] Chr5:112839064 [GRCh38]
Chr5:112174761 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5901_5916del (p.Ser1968fs) deletion Familial adenomatous polyposis 1 [RCV003337028] Chr5:112841493..112841508 [GRCh38]
Chr5:112177190..112177205 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3667_3670dup (p.Asn1224delinsIleTer) duplication Familial adenomatous polyposis 1 [RCV003337195] Chr5:112839259..112839260 [GRCh38]
Chr5:112174956..112174957 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4689_4692del (p.Leu1564fs) deletion Familial adenomatous polyposis 1 [RCV003337036] Chr5:112840283..112840286 [GRCh38]
Chr5:112175980..112175983 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.518del (p.Pro173fs) deletion Familial adenomatous polyposis 1 [RCV003337201] Chr5:112775723 [GRCh38]
Chr5:112111420 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1035dup (p.Ser346fs) duplication Familial adenomatous polyposis 1 [RCV003337037] Chr5:112819066..112819067 [GRCh38]
Chr5:112154763..112154764 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3439dup (p.Tyr1147fs) duplication Familial adenomatous polyposis 1 [RCV003336890] Chr5:112839031..112839032 [GRCh38]
Chr5:112174728..112174729 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7682dup (p.Ser2562fs) duplication Familial adenomatous polyposis 1 [RCV003336943] Chr5:112843275..112843276 [GRCh38]
Chr5:112178972..112178973 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7642_7649del (p.Lys2548fs) deletion Familial adenomatous polyposis 1 [RCV003336992] Chr5:112843236..112843243 [GRCh38]
Chr5:112178933..112178940 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6287C>A (p.Ser2096Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337210] Chr5:112841881 [GRCh38]
Chr5:112177578 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3138del (p.Asn1046fs) deletion Familial adenomatous polyposis 1 [RCV003337045] Chr5:112838732 [GRCh38]
Chr5:112174429 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1143del (p.Arg382fs) deletion Familial adenomatous polyposis 1 [RCV003336908] Chr5:112819174 [GRCh38]
Chr5:112154871 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4111del (p.Ser1371fs) deletion Familial adenomatous polyposis 1 [RCV003336954] Chr5:112839702 [GRCh38]
Chr5:112175399 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1477_1478del (p.Tyr493fs) deletion Familial adenomatous polyposis 1 [RCV003337002] Chr5:112827176..112827177 [GRCh38]
Chr5:112162873..112162874 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6412del (p.Ser2137_Leu2138insTer) deletion Familial adenomatous polyposis 1 [RCV003337162] Chr5:112842004 [GRCh38]
Chr5:112177701 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3086_3087del (p.Leu1029fs) deletion Familial adenomatous polyposis 1 [RCV003337163] Chr5:112838680..112838681 [GRCh38]
Chr5:112174377..112174378 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4507_4510del (p.Ser1503fs) deletion Familial adenomatous polyposis 1 [RCV003337171] Chr5:112840100..112840103 [GRCh38]
Chr5:112175797..112175800 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2362A>T (p.Lys788Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337067] Chr5:112837956 [GRCh38]
Chr5:112173653 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4305A>G (p.Arg1435=) single nucleotide variant not provided [RCV003334273] Chr5:112839899 [GRCh38]
Chr5:112175596 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3957del (p.Pro1319_Val1320insTer) deletion Familial adenomatous polyposis 1 [RCV003336971] Chr5:112839551 [GRCh38]
Chr5:112175248 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3256_3263dup (p.Lys1088fs) duplication Familial adenomatous polyposis 1 [RCV003337181] Chr5:112838847..112838848 [GRCh38]
Chr5:112174544..112174545 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7144dup (p.Thr2382fs) duplication Familial adenomatous polyposis 1 [RCV003336858] Chr5:112842735..112842736 [GRCh38]
Chr5:112178432..112178433 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7185_7187delinsATACTTCCACTTGGAA (p.Ser2396fs) indel Familial adenomatous polyposis 1 [RCV003337023] Chr5:112842779..112842781 [GRCh38]
Chr5:112178476..112178478 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1823_1824insA (p.Val609fs) insertion Familial adenomatous polyposis 1 [RCV003337189] Chr5:112835030..112835031 [GRCh38]
Chr5:112170727..112170728 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5028del (p.Gly1677fs) deletion Familial adenomatous polyposis 1 [RCV003336939] Chr5:112840622 [GRCh38]
Chr5:112176319 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4709del (p.Asp1570fs) deletion Familial adenomatous polyposis 1 [RCV003336948] Chr5:112840303 [GRCh38]
Chr5:112176000 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2869A>T (p.Lys957Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336949] Chr5:112838463 [GRCh38]
Chr5:112174160 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4021del (p.Ser1341fs) deletion Familial adenomatous polyposis 1 [RCV003337182] Chr5:112839615 [GRCh38]
Chr5:112175312 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4913dup (p.Met1638fs) duplication Familial adenomatous polyposis 1 [RCV003337071] Chr5:112840506..112840507 [GRCh38]
Chr5:112176203..112176204 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5632_5633dup (p.Ala1879fs) duplication Familial adenomatous polyposis 1 [RCV003336896] Chr5:112841223..112841224 [GRCh38]
Chr5:112176920..112176921 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2151del (p.Met717fs) deletion Familial adenomatous polyposis 1 [RCV003337043] Chr5:112837745 [GRCh38]
Chr5:112173442 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7428del (p.Arg2476fs) deletion Familial adenomatous polyposis 1 [RCV003337131] Chr5:112843021 [GRCh38]
Chr5:112178718 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5390dup (p.Asn1797fs) duplication Familial adenomatous polyposis 1 [RCV003336947] Chr5:112840978..112840979 [GRCh38]
Chr5:112176675..112176676 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5310_5374del (p.Lys1771fs) deletion Familial adenomatous polyposis 1 [RCV003337167] Chr5:112840894..112840958 [GRCh38]
Chr5:112176591..112176655 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.423-19_423-17del deletion Familial adenomatous polyposis 1 [RCV003336981] Chr5:112775606..112775608 [GRCh38]
Chr5:112111303..112111305 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4408_4457del (p.Ala1470fs) deletion Familial adenomatous polyposis 1 [RCV003337090] Chr5:112840001..112840050 [GRCh38]
Chr5:112175698..112175747 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7319delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2440delinsArgSerLeuIleValLeuGlyGlnTer) indel Familial adenomatous polyposis 1 [RCV003337020] Chr5:112842913 [GRCh38]
Chr5:112178610 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.339del (p.Pro114fs) deletion Familial adenomatous polyposis 1 [RCV003334441] Chr5:112767306 [GRCh38]
Chr5:112103003 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3349del (p.Ser1117fs) deletion Familial adenomatous polyposis 1 [RCV003336892]|Familial adenomatous polyposis 1 [RCV003475565] Chr5:112838942 [GRCh38]
Chr5:112174639 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2191del (p.Ala731fs) deletion Familial adenomatous polyposis 1 [RCV003337046] Chr5:112837784 [GRCh38]
Chr5:112173481 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6215T>G (p.Leu2072Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336996] Chr5:112841809 [GRCh38]
Chr5:112177506 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3485del (p.Tyr1162fs) deletion Familial adenomatous polyposis 1 [RCV003337116] Chr5:112839079 [GRCh38]
Chr5:112174776 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3754del (p.Ser1252fs) deletion Familial adenomatous polyposis 1 [RCV003337081] Chr5:112839346 [GRCh38]
Chr5:112175043 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.853_859dup (p.Glu287delinsGlyProTer) duplication Familial adenomatous polyposis 1 [RCV003337129] Chr5:112815509..112815510 [GRCh38]
Chr5:112151206..112151207 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5829_5830del (p.Ala1945fs) microsatellite Familial adenomatous polyposis 1 [RCV003337132] Chr5:112841421..112841422 [GRCh38]
Chr5:112177118..112177119 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6494del (p.Pro2165fs) deletion Familial adenomatous polyposis 1 [RCV003336872] Chr5:112842086 [GRCh38]
Chr5:112177783 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5083A>T (p.Arg1695Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003336917] Chr5:112840677 [GRCh38]
Chr5:112176374 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7619del (p.Pro2540fs) deletion Familial adenomatous polyposis 1 [RCV003336909] Chr5:112843212 [GRCh38]
Chr5:112178909 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7853del (p.Asn2618fs) deletion Familial adenomatous polyposis 1 [RCV003336873] Chr5:112843444 [GRCh38]
Chr5:112179141 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6010G>C (p.Ala2004Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341983] Chr5:112841604 [GRCh38]
Chr5:112177301 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5726A>T (p.Lys1909Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341963] Chr5:112841320 [GRCh38]
Chr5:112177017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3952G>A (p.Asp1318Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341981] Chr5:112839546 [GRCh38]
Chr5:112175243 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1537G>T (p.Val513Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535014]|Hereditary cancer-predisposing syndrome [RCV003341982] Chr5:112827236 [GRCh38]
Chr5:112162933 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3158A>G (p.Lys1053Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745588]|Hereditary cancer-predisposing syndrome [RCV003341967] Chr5:112838752 [GRCh38]
Chr5:112174449 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5210G>A (p.Ser1737Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341980] Chr5:112840804 [GRCh38]
Chr5:112176501 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6267A>C (p.Glu2089Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341965] Chr5:112841861 [GRCh38]
Chr5:112177558 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5631A>G (p.Glu1877=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341975] Chr5:112841225 [GRCh38]
Chr5:112176922 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2183A>G (p.Asn728Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341973] Chr5:112837777 [GRCh38]
Chr5:112173474 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6428C>T (p.Ser2143Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341979] Chr5:112842022 [GRCh38]
Chr5:112177719 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4848A>C (p.Lys1616Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341986] Chr5:112840442 [GRCh38]
Chr5:112176139 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4248C>A (p.Gly1416=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341987] Chr5:112839842 [GRCh38]
Chr5:112175539 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7669T>G (p.Ser2557Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341968] Chr5:112843263 [GRCh38]
Chr5:112178960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3667T>C (p.Ser1223Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341978] Chr5:112839261 [GRCh38]
Chr5:112174958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4024T>G (p.Leu1342Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358451] Chr5:112839618 [GRCh38]
Chr5:112175315 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7743T>A (p.Ser2581Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358454] Chr5:112843337 [GRCh38]
Chr5:112179034 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-2083C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358457] Chr5:112778707 [GRCh38]
Chr5:112114404 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4555_4556del (p.Asp1519fs) deletion Familial adenomatous polyposis 1 [RCV003535017]|Hereditary cancer-predisposing syndrome [RCV003359667] Chr5:112840148..112840149 [GRCh38]
Chr5:112175845..112175846 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3459T>C (p.His1153=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358455] Chr5:112839053 [GRCh38]
Chr5:112174750 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1231G>A (p.Glu411Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358452] Chr5:112819263 [GRCh38]
Chr5:112154960 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3318A>T (p.Gly1106=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358458] Chr5:112838912 [GRCh38]
Chr5:112174609 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2105G>C (p.Gly702Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358456] Chr5:112837699 [GRCh38]
Chr5:112173396 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2358T>A (p.Arg786=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003360725] Chr5:112837952 [GRCh38]
Chr5:112173649 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4398A>T (p.Gly1466=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003360726] Chr5:112839992 [GRCh38]
Chr5:112175689 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4363A>G (p.Asn1455Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003360730] Chr5:112839957 [GRCh38]
Chr5:112175654 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4778_4779delinsT (p.Lys1593fs) indel Familial adenomatous polyposis 1 [RCV003334939] Chr5:112840372..112840373 [GRCh38]
Chr5:112176069..112176070 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3175G>T (p.Glu1059Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334940] Chr5:112838769 [GRCh38]
Chr5:112174466 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.860_862delinsTT (p.Glu287fs) indel Familial adenomatous polyposis 1 [RCV003334881] Chr5:112815520..112815522 [GRCh38]
Chr5:112151217..112151219 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3588_3598delinsT (p.Phe1197fs) indel Familial adenomatous polyposis 1 [RCV003334882] Chr5:112839182..112839192 [GRCh38]
Chr5:112174879..112174889 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3890del (p.Asp1297fs) deletion Familial adenomatous polyposis 1 [RCV003334942] Chr5:112839484 [GRCh38]
Chr5:112175181 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2516_2528del (p.Gly839fs) deletion Familial adenomatous polyposis 1 [RCV003334944] Chr5:112838108..112838120 [GRCh38]
Chr5:112173805..112173817 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.566del (p.Leu189fs) deletion Familial adenomatous polyposis 1 [RCV003334946] Chr5:112780823 [GRCh38]
Chr5:112116520 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2915_2916del (p.Gly972fs) deletion Familial adenomatous polyposis 1 [RCV003334949] Chr5:112838509..112838510 [GRCh38]
Chr5:112174206..112174207 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8153del (p.Leu2718fs) deletion Familial adenomatous polyposis 1 [RCV003334495] Chr5:112843745 [GRCh38]
Chr5:112179442 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4183_4187del (p.Asp1394_Ser1395insTer) deletion Familial adenomatous polyposis 1 [RCV003334629] Chr5:112839776..112839780 [GRCh38]
Chr5:112175473..112175477 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1718del (p.Met573fs) deletion Familial adenomatous polyposis 1 [RCV003334883]|Familial adenomatous polyposis 1 [RCV003745585] Chr5:112828947 [GRCh38]
Chr5:112164644 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4756_4757del (p.Lys1586fs) deletion Familial adenomatous polyposis 1 [RCV003334885] Chr5:112840349..112840350 [GRCh38]
Chr5:112176046..112176047 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3942del (p.Arg1314fs) deletion Familial adenomatous polyposis 1 [RCV003334889] Chr5:112839535 [GRCh38]
Chr5:112175232 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3815C>A (p.Ser1272Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334890] Chr5:112839409 [GRCh38]
Chr5:112175106 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3187del (p.Ser1063fs) deletion Familial adenomatous polyposis 1 [RCV003334951] Chr5:112838779 [GRCh38]
Chr5:112174476 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1480del (p.Ser494fs) deletion Familial adenomatous polyposis 1 [RCV003334953] Chr5:112827179 [GRCh38]
Chr5:112162876 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4662_4671del (p.Lys1555fs) deletion Familial adenomatous polyposis 1 [RCV003334644] Chr5:112840256..112840265 [GRCh38]
Chr5:112175953..112175962 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2797_2800del (p.Asn933fs) deletion Familial adenomatous polyposis 1 [RCV003334891] Chr5:112838389..112838392 [GRCh38]
Chr5:112174086..112174089 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3306_3307del (p.Tyr1102_Arg1103delinsTer) deletion Familial adenomatous polyposis 1 [RCV003334899] Chr5:112838899..112838900 [GRCh38]
Chr5:112174596..112174597 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3069del (p.Pro1024fs) deletion Familial adenomatous polyposis 1 [RCV003334900] Chr5:112838663 [GRCh38]
Chr5:112174360 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3933dup (p.Gly1312fs) duplication Familial adenomatous polyposis 1 [RCV003334956] Chr5:112839525..112839526 [GRCh38]
Chr5:112175222..112175223 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.439dup (p.Asp147fs) duplication Familial adenomatous polyposis 1 [RCV003334957] Chr5:112775644..112775645 [GRCh38]
Chr5:112111341..112111342 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.167_168del (p.Glu56fs) deletion Familial adenomatous polyposis 1 [RCV003334958] Chr5:112766357..112766358 [GRCh38]
Chr5:112102054..112102055 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4099del (p.Gln1367fs) deletion Familial adenomatous polyposis 1 [RCV003334960] Chr5:112839693 [GRCh38]
Chr5:112175390 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3817del (p.Arg1273fs) deletion Familial adenomatous polyposis 1 [RCV003334902] Chr5:112839410 [GRCh38]
Chr5:112175107 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1557dup (p.Cys520fs) duplication Familial adenomatous polyposis 1 [RCV003334903] Chr5:112827936..112827937 [GRCh38]
Chr5:112163633..112163634 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.525del (p.Glu176fs) deletion Familial adenomatous polyposis 1 [RCV003334904] Chr5:112775731 [GRCh38]
Chr5:112111428 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3636_3637del (p.Ser1213fs) deletion Familial adenomatous polyposis 1 [RCV003334907] Chr5:112839230..112839231 [GRCh38]
Chr5:112174927..112174928 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1977del (p.Asn659fs) deletion Familial adenomatous polyposis 1 [RCV003334962] Chr5:112837571 [GRCh38]
Chr5:112173268 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8216_8231del (p.Lys2739fs) deletion Familial adenomatous polyposis 1 [RCV003334971] Chr5:112843806..112843821 [GRCh38]
Chr5:112179503..112179518 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.476_477del (p.Tyr159fs) deletion Familial adenomatous polyposis 1 [RCV003334908] Chr5:112775682..112775683 [GRCh38]
Chr5:112111379..112111380 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5253_5258delinsTT (p.Gln1751fs) indel Familial adenomatous polyposis 1 [RCV003334912] Chr5:112840847..112840852 [GRCh38]
Chr5:112176544..112176549 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2623A>T (p.Lys875Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334914] Chr5:112838217 [GRCh38]
Chr5:112173914 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3920_3923del (p.Ile1307fs) deletion Familial adenomatous polyposis 1 [RCV003334915] Chr5:112839511..112839514 [GRCh38]
Chr5:112175208..112175211 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.422+2T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003334974] Chr5:112767392 [GRCh38]
Chr5:112103089 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2441_2442del (p.Asn813_Phe814insTer) deletion Familial adenomatous polyposis 1 [RCV003334975] Chr5:112838033..112838034 [GRCh38]
Chr5:112173730..112173731 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2821G>T (p.Glu941Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334977] Chr5:112838415 [GRCh38]
Chr5:112174112 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3216_3217dup (p.Thr1073fs) duplication Familial adenomatous polyposis 1 [RCV003334824] Chr5:112838809..112838810 [GRCh38]
Chr5:112174506..112174507 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3646dup (p.Glu1216fs) duplication Familial adenomatous polyposis 1 [RCV003334822] Chr5:112839239..112839240 [GRCh38]
Chr5:112174936..112174937 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1885_1886del (p.Leu629fs) deletion Familial adenomatous polyposis 1 [RCV003334979] Chr5:112835091..112835092 [GRCh38]
Chr5:112170788..112170789 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1298del (p.Gln433fs) deletion Familial adenomatous polyposis 1 [RCV003334980] Chr5:112819330 [GRCh38]
Chr5:112155027 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1811dup (p.Ala604_Asp605insTer) duplication Familial adenomatous polyposis 1 [RCV003334983] Chr5:112835017..112835018 [GRCh38]
Chr5:112170714..112170715 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5775dup (p.Ile1926fs) duplication Familial adenomatous polyposis 1 [RCV003334543] Chr5:112841366..112841367 [GRCh38]
Chr5:112177063..112177064 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.394G>T (p.Gly132Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334827] Chr5:112767362 [GRCh38]
Chr5:112103059 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.298G>T (p.Glu100Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334829] Chr5:112767266 [GRCh38]
Chr5:112102963 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2145_2146del (p.His715fs) microsatellite Familial adenomatous polyposis 1 [RCV003334984] Chr5:112837737..112837738 [GRCh38]
Chr5:112173434..112173435 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1984del (p.Leu662fs) deletion Familial adenomatous polyposis 1 [RCV003334985] Chr5:112837578 [GRCh38]
Chr5:112173275 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3425dup (p.Asn1142fs) duplication Familial adenomatous polyposis 1 [RCV003334552] Chr5:112839017..112839018 [GRCh38]
Chr5:112174714..112174715 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1806_1809del (p.Asn602fs) deletion Familial adenomatous polyposis 1 [RCV003334810] Chr5:112835011..112835014 [GRCh38]
Chr5:112170708..112170711 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1411G>T (p.Gly471Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334804] Chr5:112827110 [GRCh38]
Chr5:112162807 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1357_1358del (p.Leu453fs) deletion Familial adenomatous polyposis 1 [RCV003334801] Chr5:112821939..112821940 [GRCh38]
Chr5:112157636..112157637 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5556del (p.Pro1853fs) deletion Familial adenomatous polyposis 1 [RCV003334992] Chr5:112841150 [GRCh38]
Chr5:112176847 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5570C>G (p.Ser1857Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334834] Chr5:112841164 [GRCh38]
Chr5:112176861 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5964del (p.Glu1989fs) deletion Familial adenomatous polyposis 1 [RCV003334835] Chr5:112841556 [GRCh38]
Chr5:112177253 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.254dup (p.Leu87fs) duplication Familial adenomatous polyposis 1 [RCV003334836] Chr5:112767221..112767222 [GRCh38]
Chr5:112102918..112102919 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.193C>T (p.Gln65Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334798] Chr5:112766383 [GRCh38]
Chr5:112102080 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2016del (p.His672fs) deletion Familial adenomatous polyposis 1 [RCV003334797] Chr5:112837610 [GRCh38]
Chr5:112173307 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1436T>A (p.Leu479Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334794] Chr5:112827135 [GRCh38]
Chr5:112162832 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5047_5051del (p.Gly1682_Glu1683insTer) deletion Familial adenomatous polyposis 1 [RCV003334993] Chr5:112840640..112840644 [GRCh38]
Chr5:112176337..112176341 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2944del (p.Ser982fs) deletion Familial adenomatous polyposis 1 [RCV003334994] Chr5:112838538 [GRCh38]
Chr5:112174235 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2892_2893insT (p.Asn965Ter) insertion Familial adenomatous polyposis 1 [RCV003334996] Chr5:112838486..112838487 [GRCh38]
Chr5:112174183..112174184 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6428_6431del (p.Ser2143fs) microsatellite Familial adenomatous polyposis 1 [RCV003334567] Chr5:112842019..112842022 [GRCh38]
Chr5:112177716..112177719 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5550_5579delinsG (p.Gly1851fs) indel Familial adenomatous polyposis 1 [RCV003334698] Chr5:112841144..112841173 [GRCh38]
Chr5:112176841..112176870 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.531+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003334838] Chr5:112775738 [GRCh38]
Chr5:112111435 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4166_4167dup (p.Val1390fs) duplication Familial adenomatous polyposis 1 [RCV003334840] Chr5:112839758..112839759 [GRCh38]
Chr5:112175455..112175456 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1129A>T (p.Lys377Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334841] Chr5:112819161 [GRCh38]
Chr5:112154858 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3787del (p.Cys1263fs) deletion Familial adenomatous polyposis 1 [RCV003334793] Chr5:112839380 [GRCh38]
Chr5:112175077 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1850_1853del (p.Val617fs) microsatellite Familial adenomatous polyposis 1 [RCV003334792] Chr5:112835053..112835056 [GRCh38]
Chr5:112170750..112170753 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1312+3A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003334791] Chr5:112819347 [GRCh38]
Chr5:112155044 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2538del (p.Glu847fs) deletion Familial adenomatous polyposis 1 [RCV003334790] Chr5:112838132 [GRCh38]
Chr5:112173829 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1674_1680del (p.Asn558fs) deletion Familial adenomatous polyposis 1 [RCV003334997]|Familial adenomatous polyposis 1 [RCV003459842] Chr5:112828898..112828904 [GRCh38]
Chr5:112164595..112164601 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4168_4178del (p.Ser1389_Val1390insTer) deletion Familial adenomatous polyposis 1 [RCV003334998] Chr5:112839760..112839770 [GRCh38]
Chr5:112175457..112175467 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4830_4836del (p.Gln1611fs) deletion Familial adenomatous polyposis 1 [RCV003334999] Chr5:112840423..112840429 [GRCh38]
Chr5:112176120..112176126 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6778dup (p.Ser2260fs) duplication Familial adenomatous polyposis 1 [RCV003334570] Chr5:112842368..112842369 [GRCh38]
Chr5:112178065..112178066 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3563dup (p.Ser1189fs) duplication Familial adenomatous polyposis 1 [RCV003334573] Chr5:112839155..112839156 [GRCh38]
Chr5:112174852..112174853 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4558dup (p.Val1520fs) duplication Familial adenomatous polyposis 1 [RCV003334706] Chr5:112840151..112840152 [GRCh38]
Chr5:112175848..112175849 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.646-68_658del deletion Familial adenomatous polyposis 1 [RCV003334711] Chr5:112792372..112792452 [GRCh38]
Chr5:112128069..112128149 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4568_4572del (p.Arg1523fs) deletion Familial adenomatous polyposis 1 [RCV003334825] Chr5:112840161..112840165 [GRCh38]
Chr5:112175858..112175862 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3924del (p.Glu1309fs) deletion Familial adenomatous polyposis 1 [RCV003334845] Chr5:112839515 [GRCh38]
Chr5:112175212 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3793G>T (p.Glu1265Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337625] Chr5:112839387 [GRCh38]
Chr5:112175084 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.972T>A (p.Thr324=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003339089] Chr5:112819004 [GRCh38]
Chr5:112154701 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7365A>G (p.Lys2455=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745589]|Hereditary cancer-predisposing syndrome [RCV003339108] Chr5:112842959 [GRCh38]
Chr5:112178656 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7636del (p.Thr2546fs) deletion Familial adenomatous polyposis 1 [RCV003337519] Chr5:112843229 [GRCh38]
Chr5:112178926 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.789_794del (p.Gln264_Gly265del) deletion Hereditary cancer-predisposing syndrome [RCV003339091] Chr5:112801334..112801339 [GRCh38]
Chr5:112137031..112137036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.907del (p.Arg303fs) deletion Familial adenomatous polyposis 1 [RCV003337630] Chr5:112815566 [GRCh38]
Chr5:112151263 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7387G>T (p.Glu2463Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337682] Chr5:112842981 [GRCh38]
Chr5:112178678 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1269G>A (p.Trp423Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337528] Chr5:112819301 [GRCh38]
Chr5:112154998 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.805del (p.Ile269fs) deletion Familial adenomatous polyposis 1 [RCV003337440] Chr5:112801352 [GRCh38]
Chr5:112137049 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3946del (p.Ala1316fs) deletion Familial adenomatous polyposis 1 [RCV003337453] Chr5:112839540 [GRCh38]
Chr5:112175237 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2917dup (p.Tyr973fs) duplication Familial adenomatous polyposis 1 [RCV003337482] Chr5:112838509..112838510 [GRCh38]
Chr5:112174206..112174207 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2970del (p.Asp990fs) deletion Familial adenomatous polyposis 1 [RCV003337483] Chr5:112838564 [GRCh38]
Chr5:112174261 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3819_3823dup (p.Ser1275fs) duplication Familial adenomatous polyposis 1 [RCV003337523] Chr5:112839412..112839413 [GRCh38]
Chr5:112175109..112175110 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7765G>T (p.Glu2589Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337031] Chr5:112843359 [GRCh38]
Chr5:112179056 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5781dup (p.Gln1928fs) duplication Familial adenomatous polyposis 1 [RCV003337156] Chr5:112841373..112841374 [GRCh38]
Chr5:112177070..112177071 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1575_1588del (p.Met526fs) deletion Familial adenomatous polyposis 1 [RCV003337217] Chr5:112827953..112827966 [GRCh38]
Chr5:112163650..112163663 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4775_4778del (p.Lys1592fs) deletion Familial adenomatous polyposis 1 [RCV003336867] Chr5:112840367..112840370 [GRCh38]
Chr5:112176064..112176067 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6437C>A (p.Ser2146Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003337180] Chr5:112842031 [GRCh38]
Chr5:112177728 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1277del (p.Ala426fs) deletion Familial adenomatous polyposis 1 [RCV003336862] Chr5:112819309 [GRCh38]
Chr5:112155006 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1193dup (p.Arg399fs) duplication Familial adenomatous polyposis 1 [RCV003337141] Chr5:112819223..112819224 [GRCh38]
Chr5:112154920..112154921 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1690del (p.Arg564fs) deletion Familial adenomatous polyposis 1 [RCV003337214] Chr5:112828919 [GRCh38]
Chr5:112164616 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2296dup (p.Ala766fs) duplication Familial adenomatous polyposis 1 [RCV003337145] Chr5:112837889..112837890 [GRCh38]
Chr5:112173586..112173587 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2544del (p.Asp849fs) deletion Familial adenomatous polyposis 1 [RCV003337146] Chr5:112838134 [GRCh38]
Chr5:112173831 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2498_2503delinsTCAAGAGGATGTTA (p.Ser833fs) indel Familial adenomatous polyposis 1 [RCV003336986] Chr5:112838092..112838097 [GRCh38]
Chr5:112173789..112173794 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.416_419del (p.Lys139fs) deletion Familial adenomatous polyposis 1 [RCV003336988] Chr5:112767381..112767384 [GRCh38]
Chr5:112103078..112103081 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1069_1075dup (p.Leu359fs) duplication Familial adenomatous polyposis 1 [RCV003337213] Chr5:112819099..112819100 [GRCh38]
Chr5:112154796..112154797 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4860del (p.Gln1621fs) deletion Familial adenomatous polyposis 1 [RCV003336899] Chr5:112840454 [GRCh38]
Chr5:112176151 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7191del (p.Ser2398fs) deletion Familial adenomatous polyposis 1 [RCV003336930] Chr5:112842784 [GRCh38]
Chr5:112178481 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7701T>C (p.Thr2567=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341984] Chr5:112843295 [GRCh38]
Chr5:112178992 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6800C>G (p.Ala2267Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341969] Chr5:112842394 [GRCh38]
Chr5:112178091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2560A>C (p.Arg854=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341971] Chr5:112838154 [GRCh38]
Chr5:112173851 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2265G>T (p.Arg755Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341972] Chr5:112837859 [GRCh38]
Chr5:112173556 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2897G>T (p.Ser966Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341985] Chr5:112838491 [GRCh38]
Chr5:112174188 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.209A>C (p.Glu70Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341977] Chr5:112766399 [GRCh38]
Chr5:112102096 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6409T>G (p.Ser2137Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341970] Chr5:112842003 [GRCh38]
Chr5:112177700 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7778A>T (p.Asn2593Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341964] Chr5:112843372 [GRCh38]
Chr5:112179069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4037del (p.Glu1345_Ser1346insTer) deletion Hereditary cancer-predisposing syndrome [RCV003341966] Chr5:112839631 [GRCh38]
Chr5:112175328 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3384T>C (p.Ser1128=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341974] Chr5:112838978 [GRCh38]
Chr5:112174675 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1536T>C (p.Asp512=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003341976] Chr5:112827235 [GRCh38]
Chr5:112162932 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6344T>C (p.Leu2115Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003343431] Chr5:112841938 [GRCh38]
Chr5:112177635 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6893C>A (p.Ala2298Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003358453] Chr5:112842487 [GRCh38]
Chr5:112178184 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.456A>G (p.Glu152=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003360729] Chr5:112775662 [GRCh38]
Chr5:112111359 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4354del (p.Val1452fs) deletion Familial adenomatous polyposis 1 [RCV003334675] Chr5:112839948 [GRCh38]
Chr5:112175645 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2618_2620delinsTG (p.Ser873fs) indel Familial adenomatous polyposis 1 [RCV003334676] Chr5:112838212..112838214 [GRCh38]
Chr5:112173909..112173911 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1781del (p.Asn594fs) deletion Familial adenomatous polyposis 1 [RCV003334678] Chr5:112834987 [GRCh38]
Chr5:112170684 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2496del (p.Ser833fs) deletion Familial adenomatous polyposis 1 [RCV003334821] Chr5:112838088 [GRCh38]
Chr5:112173785 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1197_1198del (p.Gly400fs) microsatellite Familial adenomatous polyposis 1 [RCV003334820] Chr5:112819225..112819226 [GRCh38]
Chr5:112154922..112154923 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5776del (p.Ile1926fs) deletion Familial adenomatous polyposis 1 [RCV003334812] Chr5:112841370 [GRCh38]
Chr5:112177067 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4729G>T (p.Glu1577Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334831] Chr5:112840323 [GRCh38]
Chr5:112176020 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3804_3806delinsG (p.Ile1269fs) indel Familial adenomatous polyposis 1 [RCV003334832] Chr5:112839398..112839400 [GRCh38]
Chr5:112175095..112175097 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2333del (p.Asn778fs) deletion Familial adenomatous polyposis 1 [RCV003334833] Chr5:112837926 [GRCh38]
Chr5:112173623 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4721_4722insC (p.Leu1575fs) insertion Familial adenomatous polyposis 1 [RCV003334987] Chr5:112840315..112840316 [GRCh38]
Chr5:112176012..112176013 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.641dup (p.Gln215fs) duplication Familial adenomatous polyposis 1 [RCV003334988] Chr5:112780898..112780899 [GRCh38]
Chr5:112116595..112116596 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4687del (p.Leu1563fs) deletion Familial adenomatous polyposis 1 [RCV003334846] Chr5:112840280 [GRCh38]
Chr5:112175977 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1114_1115del (p.Asn372fs) deletion Familial adenomatous polyposis 1 [RCV003334848] Chr5:112819145..112819146 [GRCh38]
Chr5:112154842..112154843 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4689_4695del (p.Leu1564fs) deletion Familial adenomatous polyposis 1 [RCV003334786] Chr5:112840282..112840288 [GRCh38]
Chr5:112175979..112175985 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2506_2524delinsGA (p.Ser836fs) indel Familial adenomatous polyposis 1 [RCV003334785] Chr5:112838100..112838118 [GRCh38]
Chr5:112173797..112173815 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1816dup (p.Ile606fs) duplication Familial adenomatous polyposis 1 [RCV003334784] Chr5:112835022..112835023 [GRCh38]
Chr5:112170719..112170720 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3989del (p.Pro1330fs) deletion Familial adenomatous polyposis 1 [RCV003335001] Chr5:112839581 [GRCh38]
Chr5:112175278 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3893del (p.Ser1298fs) deletion Familial adenomatous polyposis 1 [RCV003334581] Chr5:112839487 [GRCh38]
Chr5:112175184 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4118_4119del (p.Pro1373fs) deletion Familial adenomatous polyposis 1 [RCV003334587] Chr5:112839712..112839713 [GRCh38]
Chr5:112175409..112175410 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4908_4920del (p.Asp1636fs) deletion Familial adenomatous polyposis 1 [RCV003334713] Chr5:112840502..112840514 [GRCh38]
Chr5:112176199..112176211 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3872del (p.Gln1291fs) deletion Familial adenomatous polyposis 1 [RCV003334853] Chr5:112839466 [GRCh38]
Chr5:112175163 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5943_5946del (p.Asn1981fs) deletion Familial adenomatous polyposis 1 [RCV003334783] Chr5:112841535..112841538 [GRCh38]
Chr5:112177232..112177235 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4598del (p.Asn1533fs) deletion Familial adenomatous polyposis 1 [RCV003334857] Chr5:112840191 [GRCh38]
Chr5:112175888 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3454dup (p.Gln1152fs) duplication Familial adenomatous polyposis 1 [RCV003334858] Chr5:112839047..112839048 [GRCh38]
Chr5:112174744..112174745 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4251dup (p.Ile1418fs) duplication Familial adenomatous polyposis 1 [RCV003334843] Chr5:112839843..112839844 [GRCh38]
Chr5:112175540..112175541 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2320_2323dup (p.Asn775fs) duplication Familial adenomatous polyposis 1 [RCV003334916] Chr5:112837913..112837914 [GRCh38]
Chr5:112173610..112173611 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6076del (p.Ser2026fs) deletion Familial adenomatous polyposis 1 [RCV003334860] Chr5:112841669 [GRCh38]
Chr5:112177366 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.573_577dup (p.Ala193fs) duplication Familial adenomatous polyposis 1 [RCV003334608] Chr5:112780830..112780831 [GRCh38]
Chr5:112116527..112116528 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.74_75insT (p.Gln25fs) insertion Familial adenomatous polyposis 1 [RCV003334739] Chr5:112754964..112754965 [GRCh38]
Chr5:112090661..112090662 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5990del (p.Gly1997fs) deletion Familial adenomatous polyposis 1 [RCV003334866] Chr5:112841582 [GRCh38]
Chr5:112177279 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2563G>T (p.Glu855Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334867] Chr5:112838157 [GRCh38]
Chr5:112173854 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3894del (p.Ala1299fs) deletion Familial adenomatous polyposis 1 [RCV003334922] Chr5:112839488 [GRCh38]
Chr5:112175185 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2345del (p.Lys782fs) deletion Familial adenomatous polyposis 1 [RCV003334926] Chr5:112837938 [GRCh38]
Chr5:112173635 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1760_1763dup (p.Leu589fs) duplication Familial adenomatous polyposis 1 [RCV003334927] Chr5:112834966..112834967 [GRCh38]
Chr5:112170663..112170664 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1877_1878del (p.Thr626fs) deletion Familial adenomatous polyposis 1 [RCV003334478] Chr5:112835083..112835084 [GRCh38]
Chr5:112170780..112170781 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2480_2481insAT (p.Asn827fs) insertion Familial adenomatous polyposis 1 [RCV003334871] Chr5:112838074..112838075 [GRCh38]
Chr5:112173771..112173772 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1575C>A (p.Cys525Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334876] Chr5:112827955 [GRCh38]
Chr5:112163652 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2275_2282del (p.Ala759fs) deletion Familial adenomatous polyposis 1 [RCV003334879] Chr5:112837868..112837875 [GRCh38]
Chr5:112173565..112173572 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5252del (p.Gln1751fs) deletion Familial adenomatous polyposis 1 [RCV003334928]|Familial adenomatous polyposis 1 [RCV003535010] Chr5:112840846 [GRCh38]
Chr5:112176543 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7849_7853del (p.Lys2616_Glu2617insTer) deletion Familial adenomatous polyposis 1 [RCV003334929]|Familial adenomatous polyposis 1 [RCV003475568] Chr5:112843439..112843443 [GRCh38]
Chr5:112179136..112179140 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1639del (p.Val547fs) deletion Familial adenomatous polyposis 1 [RCV003334937] Chr5:112828868 [GRCh38]
Chr5:112164565 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4984dup (p.Ile1662fs) duplication Familial adenomatous polyposis 1 [RCV003334938] Chr5:112840576..112840577 [GRCh38]
Chr5:112176273..112176274 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1408+731C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003334709] Chr5:112822722 [GRCh38]
Chr5:112158419 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.477_487delinsT (p.Ala160fs) indel Familial adenomatous polyposis 1 [RCV003334710] Chr5:112775683..112775693 [GRCh38]
Chr5:112111380..112111390 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7852_7853del (p.Glu2617_Asn2618insTer) deletion Familial adenomatous polyposis 1 [RCV003334483] Chr5:112843444..112843445 [GRCh38]
Chr5:112179141..112179142 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4594del (p.Asp1532fs) deletion Familial adenomatous polyposis 1 [RCV003334536] Chr5:112840188 [GRCh38]
Chr5:112175885 [GRCh37]
Chr5:5q22.2		 pathogenic
GRCh37/hg19 5q22.2(chr5:112073556-112179823)x1 copy number loss Familial adenomatous polyposis 1 [RCV003331556] Chr5:112073556..112179823 [GRCh37]
Chr5:5q22.2		 not provided
NM_000038.6(APC):c.4319dup (p.Pro1441fs) duplication Familial adenomatous polyposis 1 [RCV003334592] Chr5:112839911..112839912 [GRCh38]
Chr5:112175608..112175609 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8268A>T (p.Ile2756=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003360727] Chr5:112843862 [GRCh38]
Chr5:112179559 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1647_1683del (p.Asn550fs) deletion Familial adenomatous polyposis 1 [RCV003334599] Chr5:112828874..112828910 [GRCh38]
Chr5:112164571..112164607 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1622dup (p.Gln542fs) duplication Familial adenomatous polyposis 1 [RCV003334603] Chr5:112828001..112828002 [GRCh38]
Chr5:112163698..112163699 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1168del (p.Ile390fs) deletion Familial adenomatous polyposis 1 [RCV003334505] Chr5:112819200 [GRCh38]
Chr5:112154897 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.643_644del (p.Gln215fs) microsatellite Familial adenomatous polyposis 1 [RCV003334621] Chr5:112780899..112780900 [GRCh38]
Chr5:112116596..112116597 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2438del (p.Asn813fs) deletion Familial adenomatous polyposis 1 [RCV003334625] Chr5:112838031 [GRCh38]
Chr5:112173728 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.654del (p.Ile218fs) deletion Familial adenomatous polyposis 1 [RCV003334628] Chr5:112792454 [GRCh38]
Chr5:112128151 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1222dup (p.His408fs) duplication Familial adenomatous polyposis 1 [RCV003334577] Chr5:112819253..112819254 [GRCh38]
Chr5:112154950..112154951 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4552A>T (p.Lys1518Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003334658] Chr5:112840146 [GRCh38]
Chr5:112175843 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2890_2896del (p.Leu964fs) deletion Familial adenomatous polyposis 1 [RCV003334594] Chr5:112838484..112838490 [GRCh38]
Chr5:112174181..112174187 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4312del (p.Thr1438fs) deletion Familial adenomatous polyposis 1 [RCV003334630] Chr5:112839903 [GRCh38]
Chr5:112175600 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1267del (p.Trp423fs) deletion Familial adenomatous polyposis 1 [RCV003334674] Chr5:112819299 [GRCh38]
Chr5:112154996 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1538del (p.Val513fs) deletion Familial adenomatous polyposis 1 [RCV003334702] Chr5:112827237 [GRCh38]
Chr5:112162934 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4534_7406del (p.Leu1511_Asp1512insTer) deletion Familial multiple polyposis syndrome [RCV003331579] Chr5:112840126..112842998 [GRCh38]
Chr5:112175823..112178695 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1624del (p.Gln542fs) deletion Familial adenomatous polyposis 1 [RCV003335576] Chr5:112828004 [GRCh38]
Chr5:112163701 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1994_1996delinsG (p.Leu665fs) indel Familial adenomatous polyposis 1 [RCV003335600] Chr5:112837588..112837590 [GRCh38]
Chr5:112173285..112173287 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2351dup (p.His785fs) duplication Familial adenomatous polyposis 1 [RCV003335617] Chr5:112837944..112837945 [GRCh38]
Chr5:112173641..112173642 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1365del (p.Lys455fs) deletion Familial adenomatous polyposis 1 [RCV003335541] Chr5:112821946 [GRCh38]
Chr5:112157643 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5850del (p.Lys1950fs) deletion Familial adenomatous polyposis 1 [RCV003335648] Chr5:112841444 [GRCh38]
Chr5:112177141 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2752G>T (p.Glu918Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335696] Chr5:112838346 [GRCh38]
Chr5:112174043 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.422+1del deletion Familial adenomatous polyposis 1 [RCV003335699] Chr5:112767390 [GRCh38]
Chr5:112103087 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.821del (p.Ser274fs) deletion Familial adenomatous polyposis 1 [RCV003335709] Chr5:112801370 [GRCh38]
Chr5:112137067 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1492dup (p.Arg498fs) duplication Familial adenomatous polyposis 1 [RCV003335719] Chr5:112827189..112827190 [GRCh38]
Chr5:112162886..112162887 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2186_2187del (p.Leu729fs) microsatellite Familial adenomatous polyposis 1 [RCV003335720] Chr5:112837778..112837779 [GRCh38]
Chr5:112173475..112173476 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2907_2911dup (p.Asp971fs) duplication Familial adenomatous polyposis 1 [RCV003335722]|Familial adenomatous polyposis 1 [RCV003466066] Chr5:112838499..112838500 [GRCh38]
Chr5:112174196..112174197 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.1408+1G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003335727] Chr5:112821992 [GRCh38]
Chr5:112157689 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.7936C>T (p.Gln2646Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335743] Chr5:112843530 [GRCh38]
Chr5:112179227 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.363del (p.Phe123fs) deletion Familial adenomatous polyposis 1 [RCV003335571] Chr5:112767331 [GRCh38]
Chr5:112103028 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4057dup (p.Glu1353fs) duplication Familial adenomatous polyposis 1 [RCV003335603] Chr5:112839650..112839651 [GRCh38]
Chr5:112175347..112175348 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2735T>G (p.Leu912Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335614] Chr5:112838329 [GRCh38]
Chr5:112174026 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2738dup (p.His913fs) duplication Familial adenomatous polyposis 1 [RCV003335615] Chr5:112838331..112838332 [GRCh38]
Chr5:112174028..112174029 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.674_689del (p.Glu225fs) deletion Familial adenomatous polyposis 1 [RCV003335635] Chr5:112792471..112792486 [GRCh38]
Chr5:112128168..112128183 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6634dup (p.Gln2212fs) duplication Familial adenomatous polyposis 1 [RCV003335560] Chr5:112842226..112842227 [GRCh38]
Chr5:112177923..112177924 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1178C>A (p.Ser393Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335552] Chr5:112819210 [GRCh38]
Chr5:112154907 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1611_1612dup (p.Glu538fs) duplication Familial adenomatous polyposis 1 [RCV003335550] Chr5:112827989..112827990 [GRCh38]
Chr5:112163686..112163687 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4907dup (p.Asp1636fs) duplication Familial adenomatous polyposis 1 [RCV003335644] Chr5:112840500..112840501 [GRCh38]
Chr5:112176197..112176198 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4933G>T (p.Glu1645Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335711] Chr5:112840527 [GRCh38]
Chr5:112176224 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.289G>T (p.Gly97Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335751] Chr5:112767257 [GRCh38]
Chr5:112102954 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.865del (p.Ala289fs) deletion Familial adenomatous polyposis 1 [RCV003335593] Chr5:112815525 [GRCh38]
Chr5:112151222 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6574A>T (p.Lys2192Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335562] Chr5:112842168 [GRCh38]
Chr5:112177865 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7686_7687insT (p.Thr2563fs) insertion Familial adenomatous polyposis 1 [RCV003335561] Chr5:112843280..112843281 [GRCh38]
Chr5:112178977..112178978 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5504del (p.Arg1835fs) deletion Familial adenomatous polyposis 1 [RCV003335530] Chr5:112841098 [GRCh38]
Chr5:112176795 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2269C>T (p.Gln757Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335664] Chr5:112837863 [GRCh38]
Chr5:112173560 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2265_2275del (p.Arg755fs) deletion Familial adenomatous polyposis 1 [RCV003335706] Chr5:112837857..112837867 [GRCh38]
Chr5:112173554..112173564 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.549_550insCT (p.Met184fs) insertion Familial adenomatous polyposis 1 [RCV003335757] Chr5:112780806..112780807 [GRCh38]
Chr5:112116503..112116504 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6940C>T (p.Gln2314Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335780] Chr5:112842534 [GRCh38]
Chr5:112178231 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1913T>C (p.Ile638Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387067] Chr5:112835120 [GRCh38]
Chr5:112170817 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6786T>C (p.Ser2262=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387068] Chr5:112842380 [GRCh38]
Chr5:112178077 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4915C>T (p.Pro1639Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387070] Chr5:112840509 [GRCh38]
Chr5:112176206 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3847G>T (p.Ala1283Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387072] Chr5:112839441 [GRCh38]
Chr5:112175138 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4116A>T (p.Pro1372=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387075] Chr5:112839710 [GRCh38]
Chr5:112175407 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6020A>T (p.Tyr2007Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387076] Chr5:112841614 [GRCh38]
Chr5:112177311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3092A>G (p.Tyr1031Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649451]|Hereditary cancer-predisposing syndrome [RCV003387077] Chr5:112838686 [GRCh38]
Chr5:112174383 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2212A>C (p.Lys738Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387078] Chr5:112837806 [GRCh38]
Chr5:112173503 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6938C>A (p.Ala2313Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003387079] Chr5:112842532 [GRCh38]
Chr5:112178229 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8222del (p.Gly2741fs) deletion Familial adenomatous polyposis 1 [RCV003456335] Chr5:112843815 [GRCh38]
Chr5:112179512 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4147dup (p.Met1383fs) duplication Familial adenomatous polyposis 1 [RCV003450212] Chr5:112839740..112839741 [GRCh38]
Chr5:112175437..112175438 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.310dup (p.Ser104fs) duplication Familial adenomatous polyposis 1 [RCV003335574] Chr5:112767277..112767278 [GRCh38]
Chr5:112102974..112102975 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.513delinsGA (p.Ser171fs) indel Familial adenomatous polyposis 1 [RCV003335590] Chr5:112775719 [GRCh38]
Chr5:112111416 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1312+3_1312+6del deletion Familial adenomatous polyposis 1 [RCV003335597] Chr5:112819345..112819348 [GRCh38]
Chr5:112155042..112155045 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.5882T>G (p.Val1961Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463154] Chr5:112841476 [GRCh38]
Chr5:112177173 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.912dup (p.Thr305fs) duplication Familial adenomatous polyposis 1 [RCV003335580] Chr5:112815571..112815572 [GRCh38]
Chr5:112151268..112151269 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3483T>G (p.Asn1161Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463264] Chr5:112839077 [GRCh38]
Chr5:112174774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3999del (p.Lys1333fs) deletion Familial adenomatous polyposis 1 [RCV003335622] Chr5:112839591 [GRCh38]
Chr5:112175288 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3404_3405dup (p.Glu1136fs) duplication Familial adenomatous polyposis 1 [RCV003335577] Chr5:112838996..112838997 [GRCh38]
Chr5:112174693..112174694 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5202del (p.Ser1737fs) deletion Familial adenomatous polyposis 1 [RCV003335579] Chr5:112840794 [GRCh38]
Chr5:112176491 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2700_2701del (p.Gln901fs) microsatellite Familial adenomatous polyposis 1 [RCV003335594] Chr5:112838291..112838292 [GRCh38]
Chr5:112173988..112173989 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3199delinsGTCT (p.Gln1067delinsValTer) indel Familial adenomatous polyposis 1 [RCV003335596] Chr5:112838793 [GRCh38]
Chr5:112174490 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.889dup (p.Thr297fs) duplication Familial adenomatous polyposis 1 [RCV003335626] Chr5:112815548..112815549 [GRCh38]
Chr5:112151245..112151246 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6586A>T (p.Lys2196Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335646] Chr5:112842180 [GRCh38]
Chr5:112177877 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3287_3288del (p.Gln1096fs) deletion Familial adenomatous polyposis 1 [RCV003335657] Chr5:112838881..112838882 [GRCh38]
Chr5:112174578..112174579 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3363del (p.Asn1122fs) deletion Familial adenomatous polyposis 1 [RCV003335676] Chr5:112838956 [GRCh38]
Chr5:112174653 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1857del (p.Thr621fs) deletion Familial adenomatous polyposis 1 [RCV003335687] Chr5:112835064 [GRCh38]
Chr5:112170761 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3715A>T (p.Arg1239Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463421] Chr5:112839309 [GRCh38]
Chr5:112175006 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1397_1398insA (p.Met466fs) insertion Familial adenomatous polyposis 1 [RCV003463441] Chr5:112821980..112821981 [GRCh38]
Chr5:112157677..112157678 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2335_2336dup (p.Leu779fs) duplication Familial adenomatous polyposis 1 [RCV003335633] Chr5:112837927..112837928 [GRCh38]
Chr5:112173624..112173625 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3446_3453del (p.Glu1149fs) deletion Familial adenomatous polyposis 1 [RCV003335640] Chr5:112839040..112839047 [GRCh38]
Chr5:112174737..112174744 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3293del (p.Cys1098fs) deletion Familial adenomatous polyposis 1 [RCV003335569] Chr5:112838887 [GRCh38]
Chr5:112174584 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4091del (p.Ser1364fs) deletion Familial adenomatous polyposis 1 [RCV003335558] Chr5:112839685 [GRCh38]
Chr5:112175382 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2767A>T (p.Arg923Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335707] Chr5:112838361 [GRCh38]
Chr5:112174058 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4508C>A (p.Ser1503Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335731] Chr5:112840102 [GRCh38]
Chr5:112175799 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1627-1G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003335732] Chr5:112828855 [GRCh38]
Chr5:112164552 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.647del (p.Arg216fs) deletion Familial adenomatous polyposis 1 [RCV003335544] Chr5:112792447 [GRCh38]
Chr5:112128144 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2974del (p.Ser992fs) deletion Familial adenomatous polyposis 1 [RCV003335674] Chr5:112838566 [GRCh38]
Chr5:112174263 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2309C>A (p.Ser770Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335691] Chr5:112837903 [GRCh38]
Chr5:112173600 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2051T>A (p.Leu684Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335745] Chr5:112837645 [GRCh38]
Chr5:112173342 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2851del (p.Tyr951fs) deletion Familial adenomatous polyposis 1 [RCV003335765] Chr5:112838444 [GRCh38]
Chr5:112174141 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2925_2926del (p.Gly977fs) deletion Familial adenomatous polyposis 1 [RCV003335766] Chr5:112838517..112838518 [GRCh38]
Chr5:112174214..112174215 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6169A>T (p.Lys2057Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335773] Chr5:112841763 [GRCh38]
Chr5:112177460 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2987del (p.Ser996fs) deletion Familial adenomatous polyposis 1 [RCV003335701] Chr5:112838581 [GRCh38]
Chr5:112174278 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2891T>A (p.Leu964Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335702] Chr5:112838485 [GRCh38]
Chr5:112174182 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.704dup (p.Leu235fs) duplication Familial adenomatous polyposis 1 [RCV003335746] Chr5:112792500..112792501 [GRCh38]
Chr5:112128197..112128198 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3466_3469del (p.Glu1156fs) deletion Familial adenomatous polyposis 1 [RCV003452405] Chr5:112839060..112839063 [GRCh38]
Chr5:112174757..112174760 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6578_6579del (p.Lys2193fs) deletion Familial adenomatous polyposis 1 [RCV003335771] Chr5:112842167..112842168 [GRCh38]
Chr5:112177864..112177865 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.18T>G (p.Tyr6Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003335775] Chr5:112754908 [GRCh38]
Chr5:112090605 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4393_4394dup (p.Ser1465fs) microsatellite Familial adenomatous polyposis 1 [RCV003335736] Chr5:112839978..112839979 [GRCh38]
Chr5:112175675..112175676 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.704del (p.Leu235fs) deletion Familial adenomatous polyposis 1 [RCV003335767] Chr5:112792501 [GRCh38]
Chr5:112128198 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5495A>T (p.Asp1832Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470276] Chr5:112841089 [GRCh38]
Chr5:112176786 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5234A>G (p.Lys1745Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476603] Chr5:112840828 [GRCh38]
Chr5:112176525 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7975G>T (p.Val2659Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476609]|Familial adenomatous polyposis 1 [RCV003745601] Chr5:112843569 [GRCh38]
Chr5:112179266 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1959-10T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003874998] Chr5:112837543 [GRCh38]
Chr5:112173240 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7217A>T (p.Asn2406Ile) single nucleotide variant not provided [RCV003490473] Chr5:112842811 [GRCh38]
Chr5:112178508 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2519G>A (p.Ser840Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463268] Chr5:112838113 [GRCh38]
Chr5:112173810 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1064T>G (p.Leu355Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003873323] Chr5:112819096 [GRCh38]
Chr5:112154793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.607C>A (p.Gln203Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476699] Chr5:112780865 [GRCh38]
Chr5:112116562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4550A>T (p.Gln1517Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476706] Chr5:112840144 [GRCh38]
Chr5:112175841 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1081C>A (p.His361Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476724]|Familial adenomatous polyposis 1 [RCV003745602] Chr5:112819113 [GRCh38]
Chr5:112154810 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7658_7661dup (p.His2554fs) duplication Familial adenomatous polyposis 1 [RCV003484510] Chr5:112843249..112843250 [GRCh38]
Chr5:112178946..112178947 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.4589A>G (p.Glu1530Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003482209] Chr5:112840183 [GRCh38]
Chr5:112175880 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7160A>C (p.Asn2387Thr) single nucleotide variant not provided [RCV003477125] Chr5:112842754 [GRCh38]
Chr5:112178451 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.419A>T (p.Glu140Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745609]|Hereditary cancer-predisposing syndrome [RCV003585670] Chr5:112767387 [GRCh38]
Chr5:112103084 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.793G>A (p.Gly265Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745610]|Hereditary cancer-predisposing syndrome [RCV003585845] Chr5:112801342 [GRCh38]
Chr5:112137039 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1289G>T (p.Gly430Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745612]|Hereditary cancer-predisposing syndrome [RCV003585917] Chr5:112819321 [GRCh38]
Chr5:112155018 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.41A>T (p.Glu14Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463400] Chr5:112754931 [GRCh38]
Chr5:112090628 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5192C>T (p.Ala1731Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003875705] Chr5:112840786 [GRCh38]
Chr5:112176483 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.441T>A (p.Asp147Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463307] Chr5:112775647 [GRCh38]
Chr5:112111344 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5087G>A (p.Ser1696Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463368] Chr5:112840681 [GRCh38]
Chr5:112176378 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7753A>G (p.Lys2585Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470242] Chr5:112843347 [GRCh38]
Chr5:112179044 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3491T>C (p.Ile1164Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470282] Chr5:112839085 [GRCh38]
Chr5:112174782 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5624C>T (p.Ser1875Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003875409] Chr5:112841218 [GRCh38]
Chr5:112176915 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7619C>A (p.Pro2540Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003779282]|not specified [RCV003489688] Chr5:112843213 [GRCh38]
Chr5:112178910 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3746G>T (p.Cys1249Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003874699] Chr5:112839340 [GRCh38]
Chr5:112175037 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6525A>T (p.Thr2175=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003875688] Chr5:112842119 [GRCh38]
Chr5:112177816 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.155G>A (p.Ser52Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743261] Chr5:112707872 [GRCh38]
Chr5:112043569 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.47C>T (p.Ser16Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743362] Chr5:112707764 [GRCh38]
Chr5:112043461 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.144C>T (p.Gly48=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650260] Chr5:112707861 [GRCh38]
Chr5:112043558 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.112A>T (p.Thr38Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651009] Chr5:112707829 [GRCh38]
Chr5:112043526 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8231A>G (p.Asn2744Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003872648] Chr5:112843825 [GRCh38]
Chr5:112179522 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5618A>G (p.Asp1873Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003875010] Chr5:112841212 [GRCh38]
Chr5:112176909 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8021C>T (p.Ser2674Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471648] Chr5:112843615 [GRCh38]
Chr5:112179312 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7563A>C (p.Arg2521Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471656] Chr5:112843157 [GRCh38]
Chr5:112178854 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.27G>T (p.Pro9=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650289] Chr5:112707744 [GRCh38]
Chr5:112043441 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.21G>A (p.Ser7=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650338] Chr5:112707738 [GRCh38]
Chr5:112043435 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-126_-125insC insertion Familial adenomatous polyposis 1 [RCV003652964] Chr5:112707592..112707593 [GRCh38]
Chr5:112043289..112043290 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4885C>T (p.His1629Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003874851] Chr5:112840479 [GRCh38]
Chr5:112176176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.973C>G (p.His325Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471374] Chr5:112819005 [GRCh38]
Chr5:112154702 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.104_105delinsTT (p.Arg35Leu) indel Familial adenomatous polyposis 1 [RCV003650884] Chr5:112707821..112707822 [GRCh38]
Chr5:112043518..112043519 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.81C>G (p.Thr27=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650864] Chr5:112707798 [GRCh38]
Chr5:112043495 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.139T>G (p.Ser47Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650881] Chr5:112707856 [GRCh38]
Chr5:112043553 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5955A>G (p.Glu1985=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003874865] Chr5:112841549 [GRCh38]
Chr5:112177246 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4792_4801del (p.Ala1598fs) deletion Familial adenomatous polyposis 1 [RCV003471587] Chr5:112840385..112840394 [GRCh38]
Chr5:112176082..112176091 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2173G>C (p.Ala725Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471566] Chr5:112837767 [GRCh38]
Chr5:112173464 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.67G>T (p.Gly23Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653097] Chr5:112707784 [GRCh38]
Chr5:112043481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4667del (p.Thr1556fs) deletion Familial adenomatous polyposis 1 [RCV003487065] Chr5:112840261 [GRCh38]
Chr5:112175958 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1628T>C (p.Val543Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003472524] Chr5:112828857 [GRCh38]
Chr5:112164554 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6426dup (p.Ser2143fs) duplication Familial adenomatous polyposis 1 [RCV003472531] Chr5:112842019..112842020 [GRCh38]
Chr5:112177716..112177717 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.442C>G (p.Leu148Val) single nucleotide variant not provided [RCV003477106] Chr5:112775648 [GRCh38]
Chr5:112111345 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4547T>C (p.Ile1516Thr) single nucleotide variant not provided [RCV003477108] Chr5:112840141 [GRCh38]
Chr5:112175838 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1480A>T (p.Ser494Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003482217] Chr5:112827179 [GRCh38]
Chr5:112162876 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8089T>C (p.Ser2697Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471444] Chr5:112843683 [GRCh38]
Chr5:112179380 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4243A>C (p.Ser1415Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476714] Chr5:112839837 [GRCh38]
Chr5:112175534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2901C>G (p.Val967=) single nucleotide variant not provided [RCV003477427] Chr5:112838495 [GRCh38]
Chr5:112174192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4538A>C (p.Glu1513Ala) single nucleotide variant not provided [RCV003429728] Chr5:112840132 [GRCh38]
Chr5:112175829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8121del (p.Asn2708fs) deletion Familial adenomatous polyposis 1 [RCV003472471] Chr5:112843715 [GRCh38]
Chr5:112179412 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5724T>G (p.Asn1908Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003472478] Chr5:112841318 [GRCh38]
Chr5:112177015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3806T>G (p.Ile1269Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003472523] Chr5:112839400 [GRCh38]
Chr5:112175097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+480C>T single nucleotide variant APC-related condition [RCV003408683] Chr5:112738405 [GRCh38]
Chr5:112074102 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4292dup (p.Met1431fs) duplication Familial adenomatous polyposis 1 [RCV003476583] Chr5:112839885..112839886 [GRCh38]
Chr5:112175582..112175583 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.806T>C (p.Ile269Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463313] Chr5:112801355 [GRCh38]
Chr5:112137052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3164T>C (p.Ile1055Thr) single nucleotide variant not provided [RCV003477436] Chr5:112838758 [GRCh38]
Chr5:112174455 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.350del (p.Ser117fs) deletion not provided [RCV003477440] Chr5:112767318 [GRCh38]
Chr5:112103015 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.-30467_-30466delinsC indel not provided [RCV003482472] Chr5:112707477..112707478 [GRCh38]
Chr5:112043174..112043175 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3803dup (p.Ile1269fs) duplication Familial multiple polyposis syndrome [RCV003479999] Chr5:112839395..112839396 [GRCh38]
Chr5:112175092..112175093 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3036T>A (p.Asn1012Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003484463] Chr5:112838630 [GRCh38]
Chr5:112174327 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.964C>T (p.Leu322Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470246] Chr5:112818996 [GRCh38]
Chr5:112154693 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1436T>C (p.Leu479Ser) single nucleotide variant not provided [RCV003477137] Chr5:112827135 [GRCh38]
Chr5:112162832 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1207G>T (p.Glu403Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471554] Chr5:112819239 [GRCh38]
Chr5:112154936 [GRCh37]
Chr5:5q22.2		 likely pathogenic
GRCh37/hg19 5q22.2-22.3(chr5:111971571-113400877)x3 copy number gain not provided [RCV003484622] Chr5:111971571..113400877 [GRCh37]
Chr5:5q22.2-22.3		 uncertain significance
NM_000038.6(APC):c.2540A>G (p.Glu847Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463375] Chr5:112838134 [GRCh38]
Chr5:112173831 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2382T>G (p.Ser794Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003472477] Chr5:112837976 [GRCh38]
Chr5:112173673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5026A>T (p.Arg1676Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003472536] Chr5:112840620 [GRCh38]
Chr5:112176317 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2117T>G (p.Met706Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471526] Chr5:112837711 [GRCh38]
Chr5:112173408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4961C>T (p.Ala1654Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471767] Chr5:112840555 [GRCh38]
Chr5:112176252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5126C>A (p.Thr1709Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535027]|not provided [RCV003441492] Chr5:112840720 [GRCh38]
Chr5:112176417 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4506T>A (p.Cys1502Ter) single nucleotide variant APC-related condition [RCV003404188] Chr5:112840100 [GRCh38]
Chr5:112175797 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.294C>T (p.Ser98=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745603]|not provided [RCV003477428] Chr5:112767262 [GRCh38]
Chr5:112102959 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.423-33_423-17del deletion not provided [RCV003428579] Chr5:112775594..112775610 [GRCh38]
Chr5:112111291..112111307 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.135+5C>G single nucleotide variant not provided [RCV003477114] Chr5:112755030 [GRCh38]
Chr5:112090727 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1903G>A (p.Gly635Arg) single nucleotide variant not provided [RCV003477194] Chr5:112835110 [GRCh38]
Chr5:112170807 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6745A>C (p.Lys2249Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003472492] Chr5:112842339 [GRCh38]
Chr5:112178036 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2173_2186del (p.Ala725fs) deletion Familial adenomatous polyposis 1 [RCV003472533] Chr5:112837767..112837780 [GRCh38]
Chr5:112173464..112173477 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6150_6153del (p.Lys2051fs) deletion Familial adenomatous polyposis 1 [RCV003472535] Chr5:112841741..112841744 [GRCh38]
Chr5:112177438..112177441 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1987C>G (p.Gln663Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476567] Chr5:112837581 [GRCh38]
Chr5:112173278 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7697G>C (p.Arg2566Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476579] Chr5:112843291 [GRCh38]
Chr5:112178988 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7403C>G (p.Ser2468Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463438] Chr5:112842997 [GRCh38]
Chr5:112178694 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.7015C>A (p.Pro2339Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003470298] Chr5:112842609 [GRCh38]
Chr5:112178306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8077A>G (p.Asn2693Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003476730] Chr5:112843671 [GRCh38]
Chr5:112179368 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6926del (p.Pro2309fs) deletion Familial adenomatous polyposis 1 [RCV003450460] Chr5:112842517 [GRCh38]
Chr5:112178214 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2404G>C (p.Asp802His) single nucleotide variant not provided [RCV003443516] Chr5:112837998 [GRCh38]
Chr5:112173695 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.505A>T (p.Ile169Leu) single nucleotide variant not provided [RCV003443736] Chr5:112775711 [GRCh38]
Chr5:112111408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.388A>T (p.Ser130Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003461921] Chr5:112767356 [GRCh38]
Chr5:112103053 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7783A>C (p.Ile2595Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463101] Chr5:112843377 [GRCh38]
Chr5:112179074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4376C>T (p.Thr1459Ile) single nucleotide variant APC-related condition [RCV003412264] Chr5:112839970 [GRCh38]
Chr5:112175667 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6454C>G (p.Pro2152Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463075] Chr5:112842048 [GRCh38]
Chr5:112177745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2512A>T (p.Arg838Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463206] Chr5:112838106 [GRCh38]
Chr5:112173803 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.8020T>C (p.Ser2674Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463218]|Familial adenomatous polyposis 1 [RCV003745600] Chr5:112843614 [GRCh38]
Chr5:112179311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6652C>T (p.Gln2218Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471770] Chr5:112842246 [GRCh38]
Chr5:112177943 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2204dup (p.Lys736fs) duplication Familial multiple polyposis syndrome [RCV003388474] Chr5:112837797..112837798 [GRCh38]
Chr5:112173494..112173495 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7013C>T (p.Pro2338Leu) single nucleotide variant not provided [RCV003443301] Chr5:112842607 [GRCh38]
Chr5:112178304 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.653T>C (p.Ile218Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463293]|Hereditary cancer-predisposing syndrome [RCV003585409] Chr5:112792453 [GRCh38]
Chr5:112128150 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1261T>C (p.Trp421Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463328]|Familial adenomatous polyposis 1 [RCV003649460] Chr5:112819293 [GRCh38]
Chr5:112154990 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3238G>A (p.Glu1080Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463361]|not provided [RCV003477093] Chr5:112838832 [GRCh38]
Chr5:112174529 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2429G>C (p.Arg810Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463351] Chr5:112838023 [GRCh38]
Chr5:112173720 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3581C>G (p.Ser1194Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003463445] Chr5:112839175 [GRCh38]
Chr5:112174872 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5632A>C (p.Lys1878Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003388234]|Familial adenomatous polyposis 1 [RCV003459853] Chr5:112841226 [GRCh38]
Chr5:112176923 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+1G>C single nucleotide variant APC-related condition [RCV003416874] Chr5:112819345 [GRCh38]
Chr5:112155042 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.223C>A (p.Leu75Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471630] Chr5:112767191 [GRCh38]
Chr5:112102888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4940C>A (p.Thr1647Lys) single nucleotide variant not provided [RCV003429729] Chr5:112840534 [GRCh38]
Chr5:112176231 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1171A>C (p.Ile391Leu) single nucleotide variant APC-related condition [RCV003427820] Chr5:112819203 [GRCh38]
Chr5:112154900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730-7T>C single nucleotide variant not provided [RCV003442256] Chr5:112801272 [GRCh38]
Chr5:112136969 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.122C>T (p.Ala41Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471440] Chr5:112755012 [GRCh38]
Chr5:112090709 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7243G>A (p.Glu2415Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003471502] Chr5:112842837 [GRCh38]
Chr5:112178534 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.9:g.(?_112073555)_(112181937_?)del deletion Familial multiple polyposis syndrome [RCV003388336] Chr5:112073555..112181937 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7535G>T (p.Ser2512Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745608]|Hereditary cancer-predisposing syndrome [RCV003584496] Chr5:112843129 [GRCh38]
Chr5:112178826 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.16T>C (p.Tyr6His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745613]|Hereditary cancer-predisposing syndrome [RCV003585134] Chr5:112754906 [GRCh38]
Chr5:112090603 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707496G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003651422] Chr5:112707496 [GRCh38]
Chr5:112043193 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1054T>C (p.Cys352Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651739] Chr5:112819086 [GRCh38]
Chr5:112154783 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1158A>C (p.Ala386=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745611]|Hereditary cancer-predisposing syndrome [RCV003585900] Chr5:112819190 [GRCh38]
Chr5:112154887 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1743+17T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003653077] Chr5:112828989 [GRCh38]
Chr5:112164686 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5982C>T (p.Asp1994=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653080] Chr5:112841576 [GRCh38]
Chr5:112177273 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2227A>G (p.Met743Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653086] Chr5:112837821 [GRCh38]
Chr5:112173518 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1079T>C (p.Leu360Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650022] Chr5:112819111 [GRCh38]
Chr5:112154808 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707433G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003829228] Chr5:112707433 [GRCh38]
Chr5:112043130 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5425A>C (p.Lys1809Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652434] Chr5:112841019 [GRCh38]
Chr5:112176716 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3564T>C (p.Pro1188=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650278] Chr5:112839158 [GRCh38]
Chr5:112174855 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8027C>A (p.Thr2676Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650309] Chr5:112843621 [GRCh38]
Chr5:112179318 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1278T>C (p.Ala426=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653079] Chr5:112819310 [GRCh38]
Chr5:112155007 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4454C>G (p.Ala1485Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650201] Chr5:112840048 [GRCh38]
Chr5:112175745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7774G>C (p.Val2592Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652389] Chr5:112843368 [GRCh38]
Chr5:112179065 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4168dup (p.Val1390fs) duplication Familial adenomatous polyposis 1 [RCV003652397] Chr5:112839761..112839762 [GRCh38]
Chr5:112175458..112175459 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7789G>A (p.Gly2597Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652405] Chr5:112843383 [GRCh38]
Chr5:112179080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1685C>G (p.Thr562Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650937] Chr5:112828914 [GRCh38]
Chr5:112164611 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.73T>C (p.Trp25Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003827442] Chr5:112707790 [GRCh38]
Chr5:112043487 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.221-27A>C single nucleotide variant not specified [RCV003494295] Chr5:112767162 [GRCh38]
Chr5:112102859 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1945A>G (p.Asn649Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650998] Chr5:112835152 [GRCh38]
Chr5:112170849 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.981G>A (p.Lys327=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652823] Chr5:112819013 [GRCh38]
Chr5:112154710 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3037C>T (p.His1013Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003877014] Chr5:112838631 [GRCh38]
Chr5:112174328 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5269T>C (p.Ser1757Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650829] Chr5:112840863 [GRCh38]
Chr5:112176560 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3532G>T (p.Asp1178Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650880] Chr5:112839126 [GRCh38]
Chr5:112174823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7708T>G (p.Ser2570Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650921] Chr5:112843302 [GRCh38]
Chr5:112178999 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7695A>G (p.Arg2565=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652965] Chr5:112843289 [GRCh38]
Chr5:112178986 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1469A>G (p.Asn490Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003831491] Chr5:112827168 [GRCh38]
Chr5:112162865 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-14A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003650977] Chr5:112821882 [GRCh38]
Chr5:112157579 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5812A>G (p.Lys1938Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650887] Chr5:112841406 [GRCh38]
Chr5:112177103 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1338C>T (p.Ile446=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651013] Chr5:112821921 [GRCh38]
Chr5:112157618 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6205G>A (p.Gly2069Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653081] Chr5:112841799 [GRCh38]
Chr5:112177496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7217A>G (p.Asn2406Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003653082] Chr5:112842811 [GRCh38]
Chr5:112178508 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.157G>A (p.Val53Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745729] Chr5:112707874 [GRCh38]
Chr5:112043571 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-213A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535323] Chr5:112707505 [GRCh38]
Chr5:112043202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003650863] Chr5:112819360 [GRCh38]
Chr5:112155057 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6667T>G (p.Ser2223Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650876] Chr5:112842261 [GRCh38]
Chr5:112177958 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7797A>G (p.Lys2599=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652454] Chr5:112843391 [GRCh38]
Chr5:112179088 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-105_-104delinsTT indel Familial adenomatous polyposis 1 [RCV003536215] Chr5:112707613..112707614 [GRCh38]
Chr5:112043310..112043311 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003536672] Chr5:112707883 [GRCh38]
Chr5:112043580 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7943C>G (p.Ala2648Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650877] Chr5:112843537 [GRCh38]
Chr5:112179234 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7728T>C (p.Ala2576=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650891] Chr5:112843322 [GRCh38]
Chr5:112179019 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6512G>C (p.Gly2171Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650903] Chr5:112842106 [GRCh38]
Chr5:112177803 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8178T>G (p.Ile2726Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650910] Chr5:112843772 [GRCh38]
Chr5:112179469 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3130_3131delinsAA (p.Ser1044Lys) indel Familial adenomatous polyposis 1 [RCV003650963] Chr5:112838724..112838725 [GRCh38]
Chr5:112174421..112174422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2190G>T (p.Met730Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650975] Chr5:112837784 [GRCh38]
Chr5:112173481 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1340G>C (p.Cys447Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650976] Chr5:112821923 [GRCh38]
Chr5:112157620 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7109G>A (p.Gly2370Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651671] Chr5:112842703 [GRCh38]
Chr5:112178400 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.141T>C (p.Ser47=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537617] Chr5:112707858 [GRCh38]
Chr5:112043555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4797A>C (p.Ser1599=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003881131] Chr5:112840391 [GRCh38]
Chr5:112176088 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5450A>G (p.Lys1817Arg) single nucleotide variant not specified [RCV003494300] Chr5:112841044 [GRCh38]
Chr5:112176741 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1159C>T (p.Leu387Phe) single nucleotide variant not specified [RCV003494297] Chr5:112819191 [GRCh38]
Chr5:112154888 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8126G>T (p.Gly2709Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650890] Chr5:112843720 [GRCh38]
Chr5:112179417 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8179C>A (p.Gln2727Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003828903] Chr5:112843773 [GRCh38]
Chr5:112179470 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.488A>C (p.Gln163Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649853] Chr5:112775694 [GRCh38]
Chr5:112111391 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2370A>G (p.Arg790=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650965] Chr5:112837964 [GRCh38]
Chr5:112173661 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3456G>C (p.Gln1152His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003829403] Chr5:112839050 [GRCh38]
Chr5:112174747 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1994T>C (p.Leu665Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003882689] Chr5:112837588 [GRCh38]
Chr5:112173285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3551C>T (p.Ala1184Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649883] Chr5:112839145 [GRCh38]
Chr5:112174842 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.983A>G (p.Asp328Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649850] Chr5:112819015 [GRCh38]
Chr5:112154712 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7782T>C (p.Ser2594=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651000] Chr5:112843376 [GRCh38]
Chr5:112179073 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5730A>G (p.Thr1910=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649922] Chr5:112841324 [GRCh38]
Chr5:112177021 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+19A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003651413] Chr5:112819363 [GRCh38]
Chr5:112155060 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4568_4570del (p.Arg1523del) deletion Familial adenomatous polyposis 1 [RCV003650267] Chr5:112840160..112840162 [GRCh38]
Chr5:112175857..112175859 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2528G>C (p.Ser843Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650037] Chr5:112838122 [GRCh38]
Chr5:112173819 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5165A>T (p.Asp1722Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650105] Chr5:112840759 [GRCh38]
Chr5:112176456 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.428T>C (p.Leu143Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003828384] Chr5:112775634 [GRCh38]
Chr5:112111331 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-19T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003650101] Chr5:112821877 [GRCh38]
Chr5:112157574 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.97T>C (p.Cys33Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744300] Chr5:112707814 [GRCh38]
Chr5:112043511 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707335del deletion Familial adenomatous polyposis 1 [RCV003651474] Chr5:112707334 [GRCh38]
Chr5:112043031 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6707T>C (p.Val2236Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652416] Chr5:112842301 [GRCh38]
Chr5:112177998 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.22G>C (p.Gly8Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745699] Chr5:112707739 [GRCh38]
Chr5:112043436 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-121G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003829704] Chr5:112707597 [GRCh38]
Chr5:112043294 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7880C>A (p.Ser2627Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652433] Chr5:112843474 [GRCh38]
Chr5:112179171 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-23C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744074] Chr5:112707695 [GRCh38]
Chr5:112043392 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-191T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003535046] Chr5:112707527 [GRCh38]
Chr5:112043224 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3087T>C (p.Leu1029=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650263] Chr5:112838681 [GRCh38]
Chr5:112174378 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5758C>A (p.Arg1920=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650264] Chr5:112841352 [GRCh38]
Chr5:112177049 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7428G>A (p.Arg2476=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652475] Chr5:112843022 [GRCh38]
Chr5:112178719 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4071A>T (p.Gly1357=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652477] Chr5:112839665 [GRCh38]
Chr5:112175362 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1814A>G (p.Asp605Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652479] Chr5:112835021 [GRCh38]
Chr5:112170718 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6845T>G (p.Leu2282Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003779317]|Hereditary cancer-predisposing syndrome [RCV003584433] Chr5:112842439 [GRCh38]
Chr5:112178136 [GRCh37]
Chr5:5q22.2		 pathogenic|likely pathogenic
NM_000038.6(APC):c.934-5C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003779342]|Hereditary cancer-predisposing syndrome [RCV003585879] Chr5:112818961 [GRCh38]
Chr5:112154658 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1626+8T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003828531] Chr5:112828014 [GRCh38]
Chr5:112163711 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8039C>A (p.Pro2680His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650194] Chr5:112843633 [GRCh38]
Chr5:112179330 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8055T>C (p.Ser2685=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650280] Chr5:112843649 [GRCh38]
Chr5:112179346 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.531+7A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003652847] Chr5:112775744 [GRCh38]
Chr5:112111441 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2529T>A (p.Ser843Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652934] Chr5:112838123 [GRCh38]
Chr5:112173820 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6993T>G (p.Pro2331=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652942] Chr5:112842587 [GRCh38]
Chr5:112178284 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1549-15_1549-10del deletion Familial adenomatous polyposis 1 [RCV003652906] Chr5:112827913..112827918 [GRCh38]
Chr5:112163610..112163615 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7938A>G (p.Gln2646=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649893] Chr5:112843532 [GRCh38]
Chr5:112179229 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.835-8A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003650889] Chr5:112815487 [GRCh38]
Chr5:112151184 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7979G>T (p.Arg2660Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652941] Chr5:112843573 [GRCh38]
Chr5:112179270 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-106G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003535038] Chr5:112707612 [GRCh38]
Chr5:112043309 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-6C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003535114] Chr5:112707712 [GRCh38]
Chr5:112043409 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.143G>C (p.Gly48Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535150] Chr5:112707860 [GRCh38]
Chr5:112043557 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5703C>G (p.Thr1901=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650892] Chr5:112841297 [GRCh38]
Chr5:112176994 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1572C>A (p.Gly524=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650901] Chr5:112827952 [GRCh38]
Chr5:112163649 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2641T>C (p.Ser881Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003779346]|Hereditary cancer-predisposing syndrome [RCV003586040] Chr5:112838235 [GRCh38]
Chr5:112173932 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2806A>T (p.Asn936Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003649914] Chr5:112838400 [GRCh38]
Chr5:112174097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7364A>T (p.Lys2455Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650939] Chr5:112842958 [GRCh38]
Chr5:112178655 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3968T>A (p.Val1323Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650954] Chr5:112839562 [GRCh38]
Chr5:112175259 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-76G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003634399] Chr5:112707642 [GRCh38]
Chr5:112043339 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6671T>A (p.Ile2224Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650974] Chr5:112842265 [GRCh38]
Chr5:112177962 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3143G>A (p.Arg1048Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650978] Chr5:112838737 [GRCh38]
Chr5:112174434 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4875A>G (p.Gln1625=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651418] Chr5:112840469 [GRCh38]
Chr5:112176166 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6383C>A (p.Ala2128Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651459] Chr5:112841977 [GRCh38]
Chr5:112177674 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-162del deletion Familial adenomatous polyposis 1 [RCV003536911] Chr5:112707553 [GRCh38]
Chr5:112043250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.480T>C (p.Ala160=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650031] Chr5:112775686 [GRCh38]
Chr5:112111383 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1286C>G (p.Pro429Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652353] Chr5:112819318 [GRCh38]
Chr5:112155015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.517C>A (p.Pro173Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652363] Chr5:112775723 [GRCh38]
Chr5:112111420 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7134T>C (p.Leu2378=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003824563] Chr5:112842728 [GRCh38]
Chr5:112178425 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2304C>G (p.His768Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652396] Chr5:112837898 [GRCh38]
Chr5:112173595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2302C>T (p.His768Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652406] Chr5:112837896 [GRCh38]
Chr5:112173593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7405T>A (p.Ser2469Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650080] Chr5:112842999 [GRCh38]
Chr5:112178696 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4079C>G (p.Ser1360Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650089] Chr5:112839673 [GRCh38]
Chr5:112175370 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1038C>T (p.Ser346=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650091] Chr5:112819070 [GRCh38]
Chr5:112154767 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1122G>C (p.Arg374=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650983] Chr5:112819154 [GRCh38]
Chr5:112154851 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5132C>A (p.Pro1711His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650988] Chr5:112840726 [GRCh38]
Chr5:112176423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.88A>C (p.Ser30Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538056] Chr5:112707805 [GRCh38]
Chr5:112043502 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-15C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003650115] Chr5:112792431 [GRCh38]
Chr5:112128128 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6430C>G (p.Leu2144Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650132] Chr5:112842024 [GRCh38]
Chr5:112177721 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2079A>G (p.Lys693=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651552] Chr5:112837673 [GRCh38]
Chr5:112173370 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4230C>T (p.Cys1410=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003651567] Chr5:112839824 [GRCh38]
Chr5:112175521 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8399C>A (p.Ala2800Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652388] Chr5:112843993 [GRCh38]
Chr5:112179690 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.76A>G (p.Ser26Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744530] Chr5:112707793 [GRCh38]
Chr5:112043490 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.389G>T (p.Ser130Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003650159] Chr5:112767357 [GRCh38]
Chr5:112103054 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1150A>C (p.Ser384Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652473] Chr5:112819182 [GRCh38]
Chr5:112154879 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2193A>C (p.Ala731=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652364] Chr5:112837787 [GRCh38]
Chr5:112173484 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1145G>A (p.Arg382Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652491] Chr5:112819177 [GRCh38]
Chr5:112154874 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4901C>A (p.Pro1634Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652447] Chr5:112840495 [GRCh38]
Chr5:112176192 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+11C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745775] Chr5:112707893 [GRCh38]
Chr5:112043590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.6C>T (p.Tyr2=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745886] Chr5:112707723 [GRCh38]
Chr5:112043420 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-98G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538954] Chr5:112707620 [GRCh38]
Chr5:112043317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7637C>T (p.Thr2546Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652448] Chr5:112843231 [GRCh38]
Chr5:112178928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.495C>G (p.Leu165=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003652853] Chr5:112775701 [GRCh38]
Chr5:112111398 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707410G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003651628] Chr5:112707410 [GRCh38]
Chr5:112043107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-121G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003826555] Chr5:112707597 [GRCh38]
Chr5:112043294 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7887C>A (p.Thr2629=) single nucleotide variant not specified [RCV003494302] Chr5:112843481 [GRCh38]
Chr5:112179178 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.1A>C (p.Met1Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539114] Chr5:112707718 [GRCh38]
Chr5:112043415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-52T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003539246] Chr5:112707666 [GRCh38]
Chr5:112043363 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-27T>A single nucleotide variant not specified [RCV003494298] Chr5:112827081 [GRCh38]
Chr5:112162778 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5586G>T (p.Leu1862Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745614]|Hereditary cancer-predisposing syndrome [RCV003585138] Chr5:112841180 [GRCh38]
Chr5:112176877 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707382A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003878728] Chr5:112707382 [GRCh38]
Chr5:112043079 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2293G>A (p.Asp765Asn) single nucleotide variant not provided [RCV003490474] Chr5:112837887 [GRCh38]
Chr5:112173584 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.72C>A (p.Ser24=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744133] Chr5:112707789 [GRCh38]
Chr5:112043486 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-144T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003744350] Chr5:112707574 [GRCh38]
Chr5:112043271 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2962G>C (p.Glu988Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003875875] Chr5:112838556 [GRCh38]
Chr5:112174253 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-127_-126delinsA indel Familial adenomatous polyposis 1 [RCV003745615] Chr5:112707591..112707592 [GRCh38]
Chr5:112043288..112043289 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-172A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745890] Chr5:112707546 [GRCh38]
Chr5:112043243 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-152C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745637] Chr5:112707566 [GRCh38]
Chr5:112043263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-158G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745675] Chr5:112707560 [GRCh38]
Chr5:112043257 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745863] Chr5:112707584 [GRCh38]
Chr5:112043281 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4746C>T (p.Ala1582=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003877371] Chr5:112840340 [GRCh38]
Chr5:112176037 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+15A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744083] Chr5:112707897 [GRCh38]
Chr5:112043594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.14T>C (p.Leu5Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744536] Chr5:112707731 [GRCh38]
Chr5:112043428 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-88_-77dup duplication Familial adenomatous polyposis 1 [RCV003536343] Chr5:112707628..112707629 [GRCh38]
Chr5:112043325..112043326 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-134_-133delinsGG indel Familial adenomatous polyposis 1 [RCV003536474] Chr5:112707584..112707585 [GRCh38]
Chr5:112043281..112043282 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-167G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003536847] Chr5:112707551 [GRCh38]
Chr5:112043248 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.139_141del (p.Ser47del) deletion Familial adenomatous polyposis 1 [RCV003536704] Chr5:112707854..112707856 [GRCh38]
Chr5:112043551..112043553 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1100C>A (p.Ser367Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003879195] Chr5:112819132 [GRCh38]
Chr5:112154829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3004G>T (p.Ala1002Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743101] Chr5:112838598 [GRCh38]
Chr5:112174295 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+3A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003536354] Chr5:112766413 [GRCh38]
Chr5:112102110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8234C>A (p.Pro2745His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536360] Chr5:112843828 [GRCh38]
Chr5:112179525 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3334A>T (p.Thr1112Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536367] Chr5:112838928 [GRCh38]
Chr5:112174625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+15G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003536392] Chr5:112766425 [GRCh38]
Chr5:112102122 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1943C>T (p.Thr648Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743128] Chr5:112835150 [GRCh38]
Chr5:112170847 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6140T>G (p.Met2047Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536384] Chr5:112841734 [GRCh38]
Chr5:112177431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+13T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743114] Chr5:112780916 [GRCh38]
Chr5:112116613 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707479C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743144] Chr5:112707479 [GRCh38]
Chr5:112043176 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8131G>C (p.Val2711Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536433] Chr5:112843725 [GRCh38]
Chr5:112179422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7367T>C (p.Leu2456Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536418] Chr5:112842961 [GRCh38]
Chr5:112178658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5090C>T (p.Thr1697Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536455] Chr5:112840684 [GRCh38]
Chr5:112176381 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707395G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003536479] Chr5:112707395 [GRCh38]
Chr5:112043092 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.698A>G (p.Gln233Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743156] Chr5:112792498 [GRCh38]
Chr5:112128195 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4032A>G (p.Ser1344=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743158] Chr5:112839626 [GRCh38]
Chr5:112175323 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7734A>G (p.Ser2578=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743162] Chr5:112843328 [GRCh38]
Chr5:112179025 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4244G>A (p.Ser1415Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743164] Chr5:112839838 [GRCh38]
Chr5:112175535 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.834+8A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003536397] Chr5:112801391 [GRCh38]
Chr5:112137088 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8094A>G (p.Lys2698=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536497] Chr5:112843688 [GRCh38]
Chr5:112179385 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2704G>C (p.Glu902Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536461] Chr5:112838298 [GRCh38]
Chr5:112173995 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7918_7919insTTGT (p.Ser2640fs) insertion Familial adenomatous polyposis 1 [RCV003536491] Chr5:112843511..112843512 [GRCh38]
Chr5:112179208..112179209 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1744-17A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003743187] Chr5:112834934 [GRCh38]
Chr5:112170631 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2412T>G (p.Asn804Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743218] Chr5:112838006 [GRCh38]
Chr5:112173703 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6891dup (p.Ala2298fs) duplication Familial adenomatous polyposis 1 [RCV003743235] Chr5:112842482..112842483 [GRCh38]
Chr5:112178179..112178180 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.-146C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003835421] Chr5:112707572 [GRCh38]
Chr5:112043269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.567G>A (p.Leu189=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743250] Chr5:112780825 [GRCh38]
Chr5:112116522 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2091A>T (p.Ala697=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536469] Chr5:112837685 [GRCh38]
Chr5:112173382 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5345A>C (p.Asn1782Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536559] Chr5:112840939 [GRCh38]
Chr5:112176636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2380A>G (p.Ser794Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743252] Chr5:112837974 [GRCh38]
Chr5:112173671 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3766C>G (p.Gln1256Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743267] Chr5:112839360 [GRCh38]
Chr5:112175057 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2210A>T (p.Tyr737Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536583] Chr5:112837804 [GRCh38]
Chr5:112173501 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.770C>G (p.Ala257Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743255] Chr5:112801319 [GRCh38]
Chr5:112137016 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+5C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003536538] Chr5:112767395 [GRCh38]
Chr5:112103092 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2345A>C (p.Lys782Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536585] Chr5:112837939 [GRCh38]
Chr5:112173636 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1632T>A (p.Ile544=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536615] Chr5:112828861 [GRCh38]
Chr5:112164558 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6404T>C (p.Ile2135Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743289] Chr5:112841998 [GRCh38]
Chr5:112177695 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.448_450del (p.Lys150del) deletion Familial adenomatous polyposis 1 [RCV003743291] Chr5:112775654..112775656 [GRCh38]
Chr5:112111351..112111353 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4132C>G (p.Gln1378Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745616] Chr5:112839726 [GRCh38]
Chr5:112175423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003536682] Chr5:112815493 [GRCh38]
Chr5:112151190 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.753A>C (p.Glu251Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743301] Chr5:112801302 [GRCh38]
Chr5:112136999 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.201T>C (p.Asp67=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003833925] Chr5:112766391 [GRCh38]
Chr5:112102088 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.875T>G (p.Leu292Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743338] Chr5:112815535 [GRCh38]
Chr5:112151232 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6295T>C (p.Phe2099Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003811303] Chr5:112841889 [GRCh38]
Chr5:112177586 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+19A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745620] Chr5:112828991 [GRCh38]
Chr5:112164688 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.936G>A (p.Val312=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536664]|Hereditary cancer-predisposing syndrome [RCV003584224] Chr5:112818968 [GRCh38]
Chr5:112154665 [GRCh37]
Chr5:5q22.2		 likely benign|uncertain significance
NM_000038.6(APC):c.1434_1435dup (p.Leu479fs) duplication Familial adenomatous polyposis 1 [RCV003536667] Chr5:112827131..112827132 [GRCh38]
Chr5:112162828..112162829 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3443C>G (p.Ser1148Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745652] Chr5:112839037 [GRCh38]
Chr5:112174734 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1016G>C (p.Ser339Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003811357] Chr5:112819048 [GRCh38]
Chr5:112154745 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4302C>A (p.Ser1434Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536666] Chr5:112839896 [GRCh38]
Chr5:112175593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4648G>T (p.Glu1550Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745673] Chr5:112840242 [GRCh38]
Chr5:112175939 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707341G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743359] Chr5:112707341 [GRCh38]
Chr5:112043038 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.630G>C (p.Met210Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536629] Chr5:112780888 [GRCh38]
Chr5:112116585 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7767A>G (p.Glu2589=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536576] Chr5:112843361 [GRCh38]
Chr5:112179058 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2410A>G (p.Asn804Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743335] Chr5:112838004 [GRCh38]
Chr5:112173701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1314G>C (p.Met438Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536656] Chr5:112821897 [GRCh38]
Chr5:112157594 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5720C>A (p.Ala1907Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536712] Chr5:112841314 [GRCh38]
Chr5:112177011 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4171_4172del (p.Ser1391fs) deletion Familial adenomatous polyposis 1 [RCV003536752] Chr5:112839765..112839766 [GRCh38]
Chr5:112175462..112175463 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7476T>C (p.Ser2492=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745689] Chr5:112843070 [GRCh38]
Chr5:112178767 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4887T>C (p.His1629=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745696] Chr5:112840481 [GRCh38]
Chr5:112176178 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2339G>A (p.Ser780Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536788] Chr5:112837933 [GRCh38]
Chr5:112173630 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5959A>T (p.Ile1987Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535047] Chr5:112841553 [GRCh38]
Chr5:112177250 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3G>A (p.Met1Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536677] Chr5:112754893 [GRCh38]
Chr5:112090590 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7994C>G (p.Pro2665Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536738] Chr5:112843588 [GRCh38]
Chr5:112179285 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.73_81dup (p.Leu27_Glu28insGlnGluLeu) duplication Familial adenomatous polyposis 1 [RCV003536769] Chr5:112754961..112754962 [GRCh38]
Chr5:112090658..112090659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2593C>A (p.Pro865Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536806] Chr5:112838187 [GRCh38]
Chr5:112173884 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5980del (p.Asp1994fs) deletion Familial adenomatous polyposis 1 [RCV003536802] Chr5:112841574 [GRCh38]
Chr5:112177271 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.680A>T (p.Asp227Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536821] Chr5:112792480 [GRCh38]
Chr5:112128177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3498T>C (p.Tyr1166=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536837] Chr5:112839092 [GRCh38]
Chr5:112174789 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7817T>A (p.Val2606Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536843] Chr5:112843411 [GRCh38]
Chr5:112179108 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1002G>A (p.Leu334=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745777] Chr5:112819034 [GRCh38]
Chr5:112154731 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6506A>T (p.Lys2169Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536853] Chr5:112842100 [GRCh38]
Chr5:112177797 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7009A>G (p.Ser2337Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535044] Chr5:112842603 [GRCh38]
Chr5:112178300 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707410G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003745742] Chr5:112707410 [GRCh38]
Chr5:112043107 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5332C>T (p.Pro1778Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745773] Chr5:112840926 [GRCh38]
Chr5:112176623 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4471T>G (p.Phe1491Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745827] Chr5:112840065 [GRCh38]
Chr5:112175762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4659A>C (p.Ala1553=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535036] Chr5:112840253 [GRCh38]
Chr5:112175950 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3439T>C (p.Tyr1147His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535089] Chr5:112839033 [GRCh38]
Chr5:112174730 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1467T>C (p.Thr489=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745754] Chr5:112827166 [GRCh38]
Chr5:112162863 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1191C>A (p.Asp397Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536840] Chr5:112819223 [GRCh38]
Chr5:112154920 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.423-3del deletion Familial adenomatous polyposis 1 [RCV003535158] Chr5:112775626 [GRCh38]
Chr5:112111323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.640G>A (p.Ala214Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535161] Chr5:112780898 [GRCh38]
Chr5:112116595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3931A>T (p.Ile1311Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536815] Chr5:112839525 [GRCh38]
Chr5:112175222 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2207A>C (p.Lys736Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536854] Chr5:112837801 [GRCh38]
Chr5:112173498 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5084G>A (p.Arg1695Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536896] Chr5:112840678 [GRCh38]
Chr5:112176375 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8417C>G (p.Pro2806Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745807] Chr5:112844011 [GRCh38]
Chr5:112179708 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707328A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003536869] Chr5:112707328 [GRCh38]
Chr5:112043025 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707351T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745876] Chr5:112707351 [GRCh38]
Chr5:112043048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.505_509del (p.Arg168_Ile169insTer) deletion Familial adenomatous polyposis 1 [RCV003535159] Chr5:112775708..112775712 [GRCh38]
Chr5:112111405..112111409 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.532-1G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003535160] Chr5:112780789 [GRCh38]
Chr5:112116486 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.905G>C (p.Arg302Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535186] Chr5:112815565 [GRCh38]
Chr5:112151262 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1264G>T (p.Glu422Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535162] Chr5:112819296 [GRCh38]
Chr5:112154993 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7777A>C (p.Asn2593His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745809] Chr5:112843371 [GRCh38]
Chr5:112179068 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5016A>T (p.Gly1672=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536918] Chr5:112840610 [GRCh38]
Chr5:112176307 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2124G>C (p.Lys708Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536942] Chr5:112837718 [GRCh38]
Chr5:112173415 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707343G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745885] Chr5:112707343 [GRCh38]
Chr5:112043040 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.463A>G (p.Lys155Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745899] Chr5:112775669 [GRCh38]
Chr5:112111366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5548G>A (p.Glu1850Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535222] Chr5:112841142 [GRCh38]
Chr5:112176839 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7064C>A (p.Ser2355Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744059] Chr5:112842658 [GRCh38]
Chr5:112178355 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1740_1743+16del deletion Familial adenomatous polyposis 1 [RCV003536921] Chr5:112828969..112828988 [GRCh38]
Chr5:112164666..112164685 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NC_000005.10:g.112707394A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535271] Chr5:112707394 [GRCh38]
Chr5:112043091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3028A>T (p.Ser1010Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535146] Chr5:112838622 [GRCh38]
Chr5:112174319 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6739del (p.Ser2247fs) deletion Familial adenomatous polyposis 1 [RCV003744097] Chr5:112842331 [GRCh38]
Chr5:112178028 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7256T>C (p.Met2419Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744125] Chr5:112842850 [GRCh38]
Chr5:112178547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8055T>A (p.Ser2685Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744131] Chr5:112843649 [GRCh38]
Chr5:112179346 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.933+14A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535274] Chr5:112815607 [GRCh38]
Chr5:112151304 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7410A>T (p.Arg2470Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744126] Chr5:112843004 [GRCh38]
Chr5:112178701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7952T>A (p.Val2651Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744141] Chr5:112843546 [GRCh38]
Chr5:112179243 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2823A>G (p.Glu941=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744115] Chr5:112838417 [GRCh38]
Chr5:112174114 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+6_135+7del deletion Familial adenomatous polyposis 1 [RCV003634196] Chr5:112755031..112755032 [GRCh38]
Chr5:112090728..112090729 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4081C>A (p.Pro1361Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744140] Chr5:112839675 [GRCh38]
Chr5:112175372 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3720T>C (p.Ser1240=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535386] Chr5:112839314 [GRCh38]
Chr5:112175011 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4530C>T (p.Ser1510=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003634218] Chr5:112840124 [GRCh38]
Chr5:112175821 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-20C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003535327] Chr5:112767169 [GRCh38]
Chr5:112102866 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1744-5A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003836129] Chr5:112834946 [GRCh38]
Chr5:112170643 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3789T>G (p.Cys1263Trp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744238] Chr5:112839383 [GRCh38]
Chr5:112175080 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3559A>T (p.Ile1187Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744227] Chr5:112839153 [GRCh38]
Chr5:112174850 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8197C>T (p.Gln2733Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744252] Chr5:112843791 [GRCh38]
Chr5:112179488 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4372C>G (p.Pro1458Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003834330] Chr5:112839966 [GRCh38]
Chr5:112175663 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707350C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744270] Chr5:112707350 [GRCh38]
Chr5:112043047 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5410G>C (p.Val1804Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003634387] Chr5:112841004 [GRCh38]
Chr5:112176701 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1686G>C (p.Thr562=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744302] Chr5:112828915 [GRCh38]
Chr5:112164612 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-21_136-17del deletion Familial adenomatous polyposis 1 [RCV003744319] Chr5:112766304..112766308 [GRCh38]
Chr5:112102001..112102005 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6666T>A (p.Pro2222=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744339] Chr5:112842260 [GRCh38]
Chr5:112177957 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-15T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744352] Chr5:112828841 [GRCh38]
Chr5:112164538 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.220+20T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744354] Chr5:112766430 [GRCh38]
Chr5:112102127 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8253T>C (p.Thr2751=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744328] Chr5:112843847 [GRCh38]
Chr5:112179544 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8123A>G (p.Asn2708Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744330] Chr5:112843717 [GRCh38]
Chr5:112179414 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2604A>C (p.Glu868Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744349] Chr5:112838198 [GRCh38]
Chr5:112173895 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6972T>G (p.Pro2324=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744367] Chr5:112842566 [GRCh38]
Chr5:112178263 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1312+10C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744327] Chr5:112819354 [GRCh38]
Chr5:112155051 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5131C>G (p.Pro1711Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744331] Chr5:112840725 [GRCh38]
Chr5:112176422 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8187T>C (p.Asp2729=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744333] Chr5:112843781 [GRCh38]
Chr5:112179478 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4753A>C (p.Thr1585Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744373] Chr5:112840347 [GRCh38]
Chr5:112176044 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4392G>C (p.Glu1464Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744401] Chr5:112839986 [GRCh38]
Chr5:112175683 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+19T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003536050] Chr5:112792548 [GRCh38]
Chr5:112128245 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.758del (p.Gly253fs) deletion Familial adenomatous polyposis 1 [RCV003536054] Chr5:112801306 [GRCh38]
Chr5:112137003 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7524A>T (p.Pro2508=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744395] Chr5:112843118 [GRCh38]
Chr5:112178815 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8173T>G (p.Phe2725Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536104] Chr5:112843767 [GRCh38]
Chr5:112179464 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1612G>A (p.Glu538Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536112] Chr5:112827992 [GRCh38]
Chr5:112163689 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1313-10T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003536115] Chr5:112821886 [GRCh38]
Chr5:112157583 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6596T>C (p.Ile2199Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536138] Chr5:112842190 [GRCh38]
Chr5:112177887 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3284A>T (p.Gln1095Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744478] Chr5:112838878 [GRCh38]
Chr5:112174575 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4236A>T (p.Gly1412=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536180] Chr5:112839830 [GRCh38]
Chr5:112175527 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707469G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003536182] Chr5:112707469 [GRCh38]
Chr5:112043166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8128A>G (p.Ser2710Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744381] Chr5:112843722 [GRCh38]
Chr5:112179419 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4522G>A (p.Ala1508Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744508] Chr5:112840116 [GRCh38]
Chr5:112175813 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7168A>G (p.Ser2390Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744498] Chr5:112842762 [GRCh38]
Chr5:112178459 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4066T>C (p.Ser1356Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744525] Chr5:112839660 [GRCh38]
Chr5:112175357 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8026A>C (p.Thr2676Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536165] Chr5:112843620 [GRCh38]
Chr5:112179317 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.941T>A (p.Met314Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536283] Chr5:112818973 [GRCh38]
Chr5:112154670 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5199C>G (p.Pro1733=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536239] Chr5:112840793 [GRCh38]
Chr5:112176490 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6097G>A (p.Asp2033Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743070] Chr5:112841691 [GRCh38]
Chr5:112177388 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3398A>G (p.Asp1133Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743093] Chr5:112838992 [GRCh38]
Chr5:112174689 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+9G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003536256] Chr5:112828981 [GRCh38]
Chr5:112164678 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1606G>C (p.Glu536Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536362] Chr5:112827986 [GRCh38]
Chr5:112163683 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6271G>T (p.Gly2091Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743068] Chr5:112841865 [GRCh38]
Chr5:112177562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707369G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003743085] Chr5:112707369 [GRCh38]
Chr5:112043066 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2896A>C (p.Ser966Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536985] Chr5:112838490 [GRCh38]
Chr5:112174187 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3700A>G (p.Ser1234Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536986] Chr5:112839294 [GRCh38]
Chr5:112174991 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7927C>A (p.Leu2643Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743232] Chr5:112843521 [GRCh38]
Chr5:112179218 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1752C>A (p.Thr584=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743241] Chr5:112834959 [GRCh38]
Chr5:112170656 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.321T>G (p.Ser107=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743244] Chr5:112767289 [GRCh38]
Chr5:112102986 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4019_4020dup (p.Ser1341fs) duplication Familial adenomatous polyposis 1 [RCV003744230] Chr5:112839611..112839612 [GRCh38]
Chr5:112175308..112175309 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3340C>G (p.Arg1114Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744240] Chr5:112838934 [GRCh38]
Chr5:112174631 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7661A>T (p.His2554Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744245] Chr5:112843255 [GRCh38]
Chr5:112178952 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7807_7810del (p.Glu2603fs) deletion Familial adenomatous polyposis 1 [RCV003536517] Chr5:112843398..112843401 [GRCh38]
Chr5:112179095..112179098 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8227A>G (p.Asn2743Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536963] Chr5:112843821 [GRCh38]
Chr5:112179518 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743G>A (p.Lys581=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585970] Chr5:112828972 [GRCh38]
Chr5:112164669 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1959-15T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585983] Chr5:112837538 [GRCh38]
Chr5:112173235 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1964T>C (p.Ile655Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585984] Chr5:112837558 [GRCh38]
Chr5:112173255 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5775del (p.Ile1926fs) deletion Familial adenomatous polyposis 1 [RCV003743208] Chr5:112841367 [GRCh38]
Chr5:112177064 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7061C>G (p.Ala2354Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743249] Chr5:112842655 [GRCh38]
Chr5:112178352 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+13C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744271] Chr5:112767403 [GRCh38]
Chr5:112103100 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7623C>T (p.Ile2541=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744277] Chr5:112843217 [GRCh38]
Chr5:112178914 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.519_520insGGCCGGGCGCGTTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAATAGATAGTCTTCCT (p.Leu174delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) microsatellite Familial adenomatous polyposis 1 [RCV003535518] Chr5:112775704..112775705 [GRCh38]
Chr5:112111401..112111402 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1958+5del deletion Familial adenomatous polyposis 1 [RCV003536535] Chr5:112835170 [GRCh38]
Chr5:112170867 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4825C>G (p.Pro1609Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538013] Chr5:112840419 [GRCh38]
Chr5:112176116 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3643A>G (p.Ser1215Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585013] Chr5:112839237 [GRCh38]
Chr5:112174934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+14G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537545] Chr5:112822005 [GRCh38]
Chr5:112157702 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2110G>C (p.Val704Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585994] Chr5:112837704 [GRCh38]
Chr5:112173401 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5986_5987del (p.Gln1996fs) microsatellite Familial adenomatous polyposis 1 [RCV003539320] Chr5:112841578..112841579 [GRCh38]
Chr5:112177275..112177276 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.307G>A (p.Val103Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743280] Chr5:112767275 [GRCh38]
Chr5:112102972 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3658A>T (p.Thr1220Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743281] Chr5:112839252 [GRCh38]
Chr5:112174949 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6934C>T (p.Pro2312Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535520] Chr5:112842528 [GRCh38]
Chr5:112178225 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7534A>T (p.Ser2512Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744294] Chr5:112843128 [GRCh38]
Chr5:112178825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.531+4A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744318] Chr5:112775741 [GRCh38]
Chr5:112111438 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.34C>T (p.Gln12Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744322] Chr5:112754924 [GRCh38]
Chr5:112090621 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1635_1636delinsAG (p.Ser546Gly) indel Familial adenomatous polyposis 1 [RCV003536633] Chr5:112828864..112828865 [GRCh38]
Chr5:112164561..112164562 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4319C>G (p.Pro1440Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536646] Chr5:112839913 [GRCh38]
Chr5:112175610 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3741C>G (p.Ala1247=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585024] Chr5:112839335 [GRCh38]
Chr5:112175032 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3757T>A (p.Ser1253Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585028] Chr5:112839351 [GRCh38]
Chr5:112175048 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3820dup (p.Cys1274fs) duplication Familial adenomatous polyposis 1 [RCV003538039] Chr5:112839413..112839414 [GRCh38]
Chr5:112175110..112175111 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7368G>C (p.Leu2456Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539176] Chr5:112842962 [GRCh38]
Chr5:112178659 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.-143A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003840285] Chr5:112707575 [GRCh38]
Chr5:112043272 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2414G>C (p.Arg805Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586021] Chr5:112838008 [GRCh38]
Chr5:112173705 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5273C>T (p.Ser1758Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743318] Chr5:112840867 [GRCh38]
Chr5:112176564 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8504C>T (p.Ser2835Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743330] Chr5:112844098 [GRCh38]
Chr5:112179795 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1242C>G (p.Arg414=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744326] Chr5:112819274 [GRCh38]
Chr5:112154971 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4143del (p.Leu1382fs) deletion Familial adenomatous polyposis 1 [RCV003744338] Chr5:112839737 [GRCh38]
Chr5:112175434 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.611T>C (p.Leu204Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744340] Chr5:112780869 [GRCh38]
Chr5:112116566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4139C>A (p.Thr1380Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744344] Chr5:112839733 [GRCh38]
Chr5:112175430 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.637del (p.Arg213fs) deletion Familial adenomatous polyposis 1 [RCV003744360] Chr5:112780895 [GRCh38]
Chr5:112116592 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5915_6492del (p.Leu1972fs) deletion Familial adenomatous polyposis 1 [RCV003536649] Chr5:112841508..112842085 [GRCh38]
Chr5:112177205..112177782 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1346C>G (p.Ala449Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745645] Chr5:112821929 [GRCh38]
Chr5:112157626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4264G>T (p.Asp1422Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585067] Chr5:112839858 [GRCh38]
Chr5:112175555 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7749A>G (p.Lys2583=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539249] Chr5:112843343 [GRCh38]
Chr5:112179040 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2909_2911del (p.Ser970_Asp971delinsAsn) deletion Hereditary cancer-predisposing syndrome [RCV003586060] Chr5:112838503..112838505 [GRCh38]
Chr5:112174200..112174202 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3256C>G (p.His1086Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744363] Chr5:112838850 [GRCh38]
Chr5:112174547 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5248G>A (p.Val1750Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744378] Chr5:112840842 [GRCh38]
Chr5:112176539 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5996C>T (p.Pro1999Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744409] Chr5:112841590 [GRCh38]
Chr5:112177287 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+16T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003536734] Chr5:112828022 [GRCh38]
Chr5:112163719 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4387A>G (p.Arg1463Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585074] Chr5:112839981 [GRCh38]
Chr5:112175678 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.762A>T (p.Ser254=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538104] Chr5:112801311 [GRCh38]
Chr5:112137008 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4605T>A (p.Asn1535Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585101] Chr5:112840199 [GRCh38]
Chr5:112175896 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8062G>A (p.Glu2688Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538111] Chr5:112843656 [GRCh38]
Chr5:112179353 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7894T>C (p.Ser2632Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538113] Chr5:112843488 [GRCh38]
Chr5:112179185 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707377G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003855836] Chr5:112707377 [GRCh38]
Chr5:112043074 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6665C>G (p.Pro2222Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537820] Chr5:112842259 [GRCh38]
Chr5:112177956 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3070C>G (p.Pro1024Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586071] Chr5:112838664 [GRCh38]
Chr5:112174361 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3538A>C (p.Ser1180Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744397] Chr5:112839132 [GRCh38]
Chr5:112174829 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6192T>C (p.Ser2064=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536708] Chr5:112841786 [GRCh38]
Chr5:112177483 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6106G>T (p.Asp2036Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536763] Chr5:112841700 [GRCh38]
Chr5:112177397 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7157A>C (p.Lys2386Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536767] Chr5:112842751 [GRCh38]
Chr5:112178448 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4724T>G (p.Leu1575Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585112] Chr5:112840318 [GRCh38]
Chr5:112176015 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4938del (p.Thr1647fs) deletion Hereditary cancer-predisposing syndrome [RCV003585131] Chr5:112840530 [GRCh38]
Chr5:112176227 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5010T>G (p.Ala1670=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585132] Chr5:112840604 [GRCh38]
Chr5:112176301 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4320A>G (p.Pro1440=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538067] Chr5:112839914 [GRCh38]
Chr5:112175611 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5035G>A (p.Ala1679Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585133] Chr5:112840629 [GRCh38]
Chr5:112176326 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5709C>A (p.Asn1903Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585139] Chr5:112841303 [GRCh38]
Chr5:112177000 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5742A>T (p.Ala1914=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585140] Chr5:112841336 [GRCh38]
Chr5:112177033 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5804A>G (p.Gln1935Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585142] Chr5:112841398 [GRCh38]
Chr5:112177095 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5818_5821del (p.Ile1940fs) deletion Hereditary cancer-predisposing syndrome [RCV003585143] Chr5:112841410..112841413 [GRCh38]
Chr5:112177107..112177110 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.2140A>C (p.Lys714Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536144] Chr5:112837734 [GRCh38]
Chr5:112173431 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2835G>C (p.Arg945Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744485] Chr5:112838429 [GRCh38]
Chr5:112174126 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6260A>G (p.Asp2087Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536166] Chr5:112841854 [GRCh38]
Chr5:112177551 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1583C>A (p.Ala528Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536170] Chr5:112827963 [GRCh38]
Chr5:112163660 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1743+13del deletion Familial adenomatous polyposis 1 [RCV003536172] Chr5:112828982 [GRCh38]
Chr5:112164679 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.6045A>G (p.Glu2015=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745737] Chr5:112841639 [GRCh38]
Chr5:112177336 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8476A>G (p.Ser2826Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745745] Chr5:112844070 [GRCh38]
Chr5:112179767 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2861T>C (p.Leu954Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538145] Chr5:112838455 [GRCh38]
Chr5:112174152 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4187T>G (p.Phe1396Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538174] Chr5:112839781 [GRCh38]
Chr5:112175478 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4032A>T (p.Ser1344=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538871] Chr5:112839626 [GRCh38]
Chr5:112175323 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8506G>C (p.Gly2836Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585674] Chr5:112844100 [GRCh38]
Chr5:112179797 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3249T>A (p.Asp1083Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586088] Chr5:112838843 [GRCh38]
Chr5:112174540 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707411C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003535085] Chr5:112707411 [GRCh38]
Chr5:112043108 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4481A>C (p.Glu1494Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744500] Chr5:112840075 [GRCh38]
Chr5:112175772 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2796A>G (p.Ser932=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744501] Chr5:112838390 [GRCh38]
Chr5:112174087 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4073C>G (p.Ala1358Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744515] Chr5:112839667 [GRCh38]
Chr5:112175364 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1724G>C (p.Cys575Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744380] Chr5:112828953 [GRCh38]
Chr5:112164650 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2229G>A (p.Met743Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536196] Chr5:112837823 [GRCh38]
Chr5:112173520 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1188T>A (p.Asp396Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744521] Chr5:112819220 [GRCh38]
Chr5:112154917 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4947A>G (p.Ile1649Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745818] Chr5:112840541 [GRCh38]
Chr5:112176238 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729G>A (p.Glu243=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538077] Chr5:112792529 [GRCh38]
Chr5:112128226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5944A>G (p.Lys1982Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538195] Chr5:112841538 [GRCh38]
Chr5:112177235 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.479del (p.Ala160fs) deletion Hereditary cancer-predisposing syndrome [RCV003585682] Chr5:112775685 [GRCh38]
Chr5:112111382 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3362T>A (p.Ile1121Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586099] Chr5:112838956 [GRCh38]
Chr5:112174653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2421T>C (p.Asp807=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539248] Chr5:112838015 [GRCh38]
Chr5:112173712 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.-175G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003854827] Chr5:112707543 [GRCh38]
Chr5:112043240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+18A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003535151] Chr5:112828024 [GRCh38]
Chr5:112163721 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1564_1565del (p.Met522fs) deletion Familial adenomatous polyposis 1 [RCV003535165] Chr5:112827943..112827944 [GRCh38]
Chr5:112163640..112163641 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1982_1983del (p.Cys661fs) deletion Familial adenomatous polyposis 1 [RCV003535166] Chr5:112837575..112837576 [GRCh38]
Chr5:112173272..112173273 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6908G>C (p.Gly2303Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536220] Chr5:112842502 [GRCh38]
Chr5:112178199 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8474C>G (p.Ser2825Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536225] Chr5:112844068 [GRCh38]
Chr5:112179765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4300A>G (p.Ser1434Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536226] Chr5:112839894 [GRCh38]
Chr5:112175591 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-14C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003536230] Chr5:112818952 [GRCh38]
Chr5:112154649 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7038A>G (p.Pro2346=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536233] Chr5:112842632 [GRCh38]
Chr5:112178329 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3949G>A (p.Glu1317Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536238] Chr5:112839543 [GRCh38]
Chr5:112175240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8191C>G (p.Pro2731Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745838] Chr5:112843785 [GRCh38]
Chr5:112179482 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5057A>T (p.Lys1686Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536855] Chr5:112840651 [GRCh38]
Chr5:112176348 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.683T>G (p.Ile228Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745852] Chr5:112792483 [GRCh38]
Chr5:112128180 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4394G>A (p.Ser1465Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538177] Chr5:112839988 [GRCh38]
Chr5:112175685 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4520G>C (p.Ser1507Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538219] Chr5:112840114 [GRCh38]
Chr5:112175811 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.954G>T (p.Leu318Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538232] Chr5:112818986 [GRCh38]
Chr5:112154683 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5516C>G (p.Ala1839Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538234] Chr5:112841110 [GRCh38]
Chr5:112176807 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7832C>G (p.Thr2611Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585637] Chr5:112843426 [GRCh38]
Chr5:112179123 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4497A>G (p.Gly1499=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539253] Chr5:112840091 [GRCh38]
Chr5:112175788 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6579A>T (p.Lys2193Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003851620] Chr5:112842173 [GRCh38]
Chr5:112177870 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8279C>G (p.Thr2760Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536201] Chr5:112843873 [GRCh38]
Chr5:112179570 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5488A>C (p.Asn1830His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536257] Chr5:112841082 [GRCh38]
Chr5:112176779 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1501G>T (p.Ala501Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536243] Chr5:112827200 [GRCh38]
Chr5:112162897 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7043C>G (p.Thr2348Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745822] Chr5:112842637 [GRCh38]
Chr5:112178334 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6335T>C (p.Val2112Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536961] Chr5:112841929 [GRCh38]
Chr5:112177626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1350G>C (p.Val450=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536867] Chr5:112821933 [GRCh38]
Chr5:112157630 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1487C>A (p.Thr496Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745896] Chr5:112827186 [GRCh38]
Chr5:112162883 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6272G>A (p.Gly2091Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745898] Chr5:112841866 [GRCh38]
Chr5:112177563 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3524A>G (p.Gln1175Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538261] Chr5:112839118 [GRCh38]
Chr5:112174815 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.516T>G (p.Leu172=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585706] Chr5:112775722 [GRCh38]
Chr5:112111419 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.546del (p.Asp183fs) deletion Hereditary cancer-predisposing syndrome [RCV003585716] Chr5:112780804 [GRCh38]
Chr5:112116501 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707463G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003539263] Chr5:112707463 [GRCh38]
Chr5:112043160 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+2_422+3del deletion Familial adenomatous polyposis 1 [RCV003744065] Chr5:112767392..112767393 [GRCh38]
Chr5:112103089..112103090 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.1573T>C (p.Cys525Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536284] Chr5:112827953 [GRCh38]
Chr5:112163650 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8086G>A (p.Asp2696Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537629] Chr5:112843680 [GRCh38]
Chr5:112179377 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4224dup (p.Pro1409fs) duplication Familial adenomatous polyposis 1 [RCV003537635] Chr5:112839816..112839817 [GRCh38]
Chr5:112175513..112175514 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3552C>G (p.Ala1184=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538204] Chr5:112839146 [GRCh38]
Chr5:112174843 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3996C>G (p.Thr1332=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743077] Chr5:112839590 [GRCh38]
Chr5:112175287 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.532-20T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003743094] Chr5:112780770 [GRCh38]
Chr5:112116467 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6706G>T (p.Val2236Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743099] Chr5:112842300 [GRCh38]
Chr5:112177997 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6228G>A (p.Leu2076=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744082] Chr5:112841822 [GRCh38]
Chr5:112177519 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2166del (p.Ser722fs) deletion Familial adenomatous polyposis 1 [RCV003744089] Chr5:112837760 [GRCh38]
Chr5:112173457 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7334A>T (p.Lys2445Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744090] Chr5:112842928 [GRCh38]
Chr5:112178625 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7643A>T (p.Lys2548Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744094] Chr5:112843237 [GRCh38]
Chr5:112178934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3635C>A (p.Ser1212Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536310]|Hereditary cancer-predisposing syndrome [RCV003585498] Chr5:112839229 [GRCh38]
Chr5:112174926 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.501_502insG (p.Arg168fs) insertion Familial adenomatous polyposis 1 [RCV003536371] Chr5:112775707..112775708 [GRCh38]
Chr5:112111404..112111405 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4011_4012delinsCT (p.Gln1338Ter) indel Familial adenomatous polyposis 1 [RCV003538300] Chr5:112839605..112839606 [GRCh38]
Chr5:112175302..112175303 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4646A>C (p.Gln1549Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538246] Chr5:112840240 [GRCh38]
Chr5:112175937 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2203G>T (p.Ala735Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538313] Chr5:112837797 [GRCh38]
Chr5:112173494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2224del (p.Ile742fs) deletion Familial adenomatous polyposis 1 [RCV003743110] Chr5:112837818 [GRCh38]
Chr5:112173515 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.966T>A (p.Leu322=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743117] Chr5:112818998 [GRCh38]
Chr5:112154695 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3531T>G (p.Ile1177Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535220] Chr5:112839125 [GRCh38]
Chr5:112174822 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6053C>A (p.Pro2018Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744117] Chr5:112841647 [GRCh38]
Chr5:112177344 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6535A>T (p.Lys2179Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537542] Chr5:112842129 [GRCh38]
Chr5:112177826 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4726G>A (p.Glu1576Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537546] Chr5:112840320 [GRCh38]
Chr5:112176017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.278_280delinsACG (p.Leu93_Arg94delinsHisGly) indel Hereditary cancer-predisposing syndrome [RCV003584412] Chr5:112767246..112767248 [GRCh38]
Chr5:112102943..112102945 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2177T>C (p.Leu726Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538257] Chr5:112837771 [GRCh38]
Chr5:112173468 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5203G>C (p.Gly1735Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538349] Chr5:112840797 [GRCh38]
Chr5:112176494 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.747G>T (p.Lys249Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585805] Chr5:112801296 [GRCh38]
Chr5:112136993 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3518del (p.Val1173fs) deletion Familial adenomatous polyposis 1 [RCV003539013] Chr5:112839112 [GRCh38]
Chr5:112174809 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1269G>T (p.Trp423Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003838875] Chr5:112819301 [GRCh38]
Chr5:112154998 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3061C>G (p.Leu1021Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743139] Chr5:112838655 [GRCh38]
Chr5:112174352 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7352C>T (p.Thr2451Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743150] Chr5:112842946 [GRCh38]
Chr5:112178643 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5699T>C (p.Leu1900Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744055] Chr5:112841293 [GRCh38]
Chr5:112176990 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2032A>G (p.Ser678Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744100] Chr5:112837626 [GRCh38]
Chr5:112173323 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5031A>C (p.Gly1677=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744103] Chr5:112840625 [GRCh38]
Chr5:112176322 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3231T>C (p.Val1077=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536441] Chr5:112838825 [GRCh38]
Chr5:112174522 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3800C>T (p.Thr1267Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537595] Chr5:112839394 [GRCh38]
Chr5:112175091 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7820C>A (p.Ser2607Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538351] Chr5:112843414 [GRCh38]
Chr5:112179111 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2004C>G (p.His668Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539085] Chr5:112837598 [GRCh38]
Chr5:112173295 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6276A>C (p.Leu2092=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743165] Chr5:112841870 [GRCh38]
Chr5:112177567 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6889A>C (p.Lys2297Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535403] Chr5:112842483 [GRCh38]
Chr5:112178180 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6336A>C (p.Val2112=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537620] Chr5:112841930 [GRCh38]
Chr5:112177627 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7414G>T (p.Ala2472Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584486] Chr5:112843008 [GRCh38]
Chr5:112178705 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.961dup (p.Met321fs) duplication Hereditary cancer-predisposing syndrome [RCV003585880] Chr5:112818991..112818992 [GRCh38]
Chr5:112154688..112154689 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1037C>G (p.Ser346Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585888] Chr5:112819069 [GRCh38]
Chr5:112154766 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7949C>T (p.Ala2650Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743083] Chr5:112843543 [GRCh38]
Chr5:112179240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3878C>T (p.Thr1293Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743211] Chr5:112839472 [GRCh38]
Chr5:112175169 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+12dup duplication Familial adenomatous polyposis 1 [RCV003743214] Chr5:112821998..112821999 [GRCh38]
Chr5:112157695..112157696 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.1174C>A (p.His392Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744220] Chr5:112819206 [GRCh38]
Chr5:112154903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5259A>C (p.Ala1753=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744221] Chr5:112840853 [GRCh38]
Chr5:112176550 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.296G>T (p.Arg99Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536486] Chr5:112767264 [GRCh38]
Chr5:112102961 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.110T>C (p.Leu37Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536487] Chr5:112755000 [GRCh38]
Chr5:112090697 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3253A>G (p.Lys1085Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536488] Chr5:112838847 [GRCh38]
Chr5:112174544 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3373G>C (p.Val1125Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537888] Chr5:112838967 [GRCh38]
Chr5:112174664 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5071C>G (p.Pro1691Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003817031] Chr5:112840665 [GRCh38]
Chr5:112176362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6659A>G (p.Asn2220Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536945] Chr5:112842253 [GRCh38]
Chr5:112177950 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4890T>G (p.Val1630=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538853] Chr5:112840484 [GRCh38]
Chr5:112176181 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+19T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003539077] Chr5:112822010 [GRCh38]
Chr5:112157707 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4205C>T (p.Ala1402Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003856520] Chr5:112839799 [GRCh38]
Chr5:112175496 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2275G>A (p.Ala759Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536982] Chr5:112837869 [GRCh38]
Chr5:112173566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6592T>C (p.Leu2198=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536983] Chr5:112842186 [GRCh38]
Chr5:112177883 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1890C>G (p.Ala630=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535045] Chr5:112835097 [GRCh38]
Chr5:112170794 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1710A>G (p.Lys570=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745725] Chr5:112828939 [GRCh38]
Chr5:112164636 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5891C>G (p.Ser1964Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536764] Chr5:112841485 [GRCh38]
Chr5:112177182 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8231del (p.Asn2744fs) deletion Familial adenomatous polyposis 1 [RCV003536830] Chr5:112843824 [GRCh38]
Chr5:112179521 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+20C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003536842] Chr5:112819364 [GRCh38]
Chr5:112155061 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1711G>A (p.Ala571Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538247] Chr5:112828940 [GRCh38]
Chr5:112164637 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7764T>G (p.Asp2588Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585632] Chr5:112843358 [GRCh38]
Chr5:112179055 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+731C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538924] Chr5:112822722 [GRCh38]
Chr5:112158419 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.510T>C (p.Asp170=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585700] Chr5:112775716 [GRCh38]
Chr5:112111413 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3467A>C (p.Glu1156Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539086] Chr5:112839061 [GRCh38]
Chr5:112174758 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7181G>A (p.Ser2394Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539098] Chr5:112842775 [GRCh38]
Chr5:112178472 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2219C>T (p.Ala740Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586006] Chr5:112837813 [GRCh38]
Chr5:112173510 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2336T>C (p.Leu779Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586011] Chr5:112837930 [GRCh38]
Chr5:112173627 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.422+20T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003835602] Chr5:112767410 [GRCh38]
Chr5:112103107 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5325A>C (p.Pro1775=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536955] Chr5:112840919 [GRCh38]
Chr5:112176616 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6138A>G (p.Ala2046=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535080] Chr5:112841732 [GRCh38]
Chr5:112177429 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4001C>T (p.Ser1334Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745833] Chr5:112839595 [GRCh38]
Chr5:112175292 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.835-9A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538258] Chr5:112815486 [GRCh38]
Chr5:112151183 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.574G>T (p.Glu192Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585721] Chr5:112780832 [GRCh38]
Chr5:112116529 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.934-16C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003539107] Chr5:112818950 [GRCh38]
Chr5:112154647 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.878G>C (p.Ser293Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585861] Chr5:112815538 [GRCh38]
Chr5:112151235 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2459C>G (p.Thr820Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586028] Chr5:112838053 [GRCh38]
Chr5:112173750 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6227T>A (p.Leu2076Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539191] Chr5:112841821 [GRCh38]
Chr5:112177518 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2471C>T (p.Pro824Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586031] Chr5:112838065 [GRCh38]
Chr5:112173762 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.746A>G (p.Lys249Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537526] Chr5:112801295 [GRCh38]
Chr5:112136992 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4037C>G (p.Ser1346Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535168] Chr5:112839631 [GRCh38]
Chr5:112175328 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4616C>T (p.Ser1539Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535223] Chr5:112840210 [GRCh38]
Chr5:112175907 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1401T>A (p.Asn467Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536922] Chr5:112821984 [GRCh38]
Chr5:112157681 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2075C>A (p.Pro692His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745895] Chr5:112837669 [GRCh38]
Chr5:112173366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7349dup (p.Thr2451fs) duplication Familial adenomatous polyposis 1 [RCV003538279] Chr5:112842940..112842941 [GRCh38]
Chr5:112178637..112178638 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.619T>C (p.Cys207Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585738] Chr5:112780877 [GRCh38]
Chr5:112116574 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5075C>T (p.Thr1692Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539003] Chr5:112840669 [GRCh38]
Chr5:112176366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.895T>G (p.Ser299Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585867] Chr5:112815555 [GRCh38]
Chr5:112151252 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5366T>C (p.Val1789Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539197] Chr5:112840960 [GRCh38]
Chr5:112176657 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2717C>T (p.Ser906Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003586046] Chr5:112838311 [GRCh38]
Chr5:112174008 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4705_4706del (p.Asp1568_Asp1569insTer) deletion Familial adenomatous polyposis 1 [RCV003537543] Chr5:112840299..112840300 [GRCh38]
Chr5:112175996..112175997 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8132T>C (p.Val2711Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003833227] Chr5:112843726 [GRCh38]
Chr5:112179423 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5915_6491del (p.Leu1972fs) deletion Familial adenomatous polyposis 1 [RCV003744067] Chr5:112841509..112842085 [GRCh38]
Chr5:112177206..112177782 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.182C>T (p.Ala61Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535196] Chr5:112766372 [GRCh38]
Chr5:112102069 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4251T>G (p.Ile1417Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744137] Chr5:112839845 [GRCh38]
Chr5:112175542 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2316T>G (p.Thr772=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744138] Chr5:112837910 [GRCh38]
Chr5:112173607 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.933+15C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003538289] Chr5:112815608 [GRCh38]
Chr5:112151305 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6485A>T (p.Asn2162Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538227] Chr5:112842079 [GRCh38]
Chr5:112177776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1287A>C (p.Pro429=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585916] Chr5:112819319 [GRCh38]
Chr5:112155016 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1408+728A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585926] Chr5:112822719 [GRCh38]
Chr5:112158416 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8406A>C (p.Pro2802=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537646] Chr5:112844000 [GRCh38]
Chr5:112179697 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1870A>T (p.Ser624Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744087] Chr5:112835077 [GRCh38]
Chr5:112170774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3989C>G (p.Pro1330Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539025] Chr5:112839583 [GRCh38]
Chr5:112175280 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4124_4128del (p.His1375fs) deletion Familial adenomatous polyposis 1 [RCV003744222] Chr5:112839718..112839722 [GRCh38]
Chr5:112175415..112175419 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.5396T>G (p.Leu1799Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744228] Chr5:112840990 [GRCh38]
Chr5:112176687 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6163A>G (p.Arg2055Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744241] Chr5:112841757 [GRCh38]
Chr5:112177454 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.95ATC[1] (p.His33del) microsatellite Familial adenomatous polyposis 1 [RCV003537683] Chr5:112754985..112754987 [GRCh38]
Chr5:112090682..112090684 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1787C>A (p.Ser596Ter) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744284] Chr5:112834994 [GRCh38]
Chr5:112170691 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1618T>C (p.Leu540=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744325] Chr5:112827998 [GRCh38]
Chr5:112163695 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4672G>C (p.Asp1558His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537004] Chr5:112840266 [GRCh38]
Chr5:112175963 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7612_7613insTCAATAGGTCTATCAAAA (p.Ser2537_Arg2538insIleAsnArgSerIleLys) insertion Familial adenomatous polyposis 1 [RCV003538347] Chr5:112843205..112843206 [GRCh38]
Chr5:112178902..112178903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6361G>A (p.Ala2121Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538350] Chr5:112841955 [GRCh38]
Chr5:112177652 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.878G>T (p.Ser293Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537552] Chr5:112815538 [GRCh38]
Chr5:112151235 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.826A>G (p.Asn276Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003855748] Chr5:112801375 [GRCh38]
Chr5:112137072 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.220+10A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537754] Chr5:112766420 [GRCh38]
Chr5:112102117 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5997A>C (p.Pro1999=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584408] Chr5:112841591 [GRCh38]
Chr5:112177288 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6484A>T (p.Asn2162Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584411] Chr5:112842078 [GRCh38]
Chr5:112177775 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6672C>T (p.Ile2224=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584413] Chr5:112842266 [GRCh38]
Chr5:112177963 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+19T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744394] Chr5:112755044 [GRCh38]
Chr5:112090741 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707373C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003537553] Chr5:112707373 [GRCh38]
Chr5:112043070 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.955T>G (p.Leu319Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537594] Chr5:112818987 [GRCh38]
Chr5:112154684 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-8del deletion Familial adenomatous polyposis 1 [RCV003817495] Chr5:112792435 [GRCh38]
Chr5:112128132 [GRCh37]
Chr5:5q22.2		 benign
NM_000038.6(APC):c.604G>C (p.Glu202Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538221] Chr5:112780862 [GRCh38]
Chr5:112116559 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3474A>T (p.Arg1158Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537753] Chr5:112839068 [GRCh38]
Chr5:112174765 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707413A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537711] Chr5:112707413 [GRCh38]
Chr5:112043110 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6843A>G (p.Glu2281=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584430] Chr5:112842437 [GRCh38]
Chr5:112178134 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6935C>T (p.Pro2312Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584448] Chr5:112842529 [GRCh38]
Chr5:112178226 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.934-19A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003537790] Chr5:112818947 [GRCh38]
Chr5:112154644 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4993C>A (p.Pro1665Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536125] Chr5:112840587 [GRCh38]
Chr5:112176284 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1888_1894del (p.Ala630fs) deletion Familial adenomatous polyposis 1 [RCV003536167] Chr5:112835092..112835098 [GRCh38]
Chr5:112170789..112170795 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.740A>C (p.Gln247Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536169] Chr5:112801289 [GRCh38]
Chr5:112136986 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7037C>G (p.Pro2346Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536193] Chr5:112842631 [GRCh38]
Chr5:112178328 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1496_1497insT (p.Tyr500fs) insertion Familial adenomatous polyposis 1 [RCV003538312] Chr5:112827195..112827196 [GRCh38]
Chr5:112162892..112162893 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3869A>G (p.Asn1290Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003855742] Chr5:112839463 [GRCh38]
Chr5:112175160 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7170T>C (p.Ser2390=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584468] Chr5:112842764 [GRCh38]
Chr5:112178461 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.188C>T (p.Ser63Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538183]|Hereditary cancer-predisposing syndrome [RCV003584369] Chr5:112766378 [GRCh38]
Chr5:112102075 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5516C>T (p.Ala1839Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537773] Chr5:112841110 [GRCh38]
Chr5:112176807 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7015C>T (p.Pro2339Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584455] Chr5:112842609 [GRCh38]
Chr5:112178306 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7057dup (p.Thr2353fs) duplication Hereditary cancer-predisposing syndrome [RCV003584462] Chr5:112842650..112842651 [GRCh38]
Chr5:112178347..112178348 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7247T>C (p.Leu2416Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584473] Chr5:112842841 [GRCh38]
Chr5:112178538 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7457C>T (p.Pro2486Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584487] Chr5:112843051 [GRCh38]
Chr5:112178748 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7502C>G (p.Ala2501Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584494] Chr5:112843096 [GRCh38]
Chr5:112178793 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7637C>G (p.Thr2546Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584504] Chr5:112843231 [GRCh38]
Chr5:112178928 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6031T>A (p.Ser2011Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537836] Chr5:112841625 [GRCh38]
Chr5:112177322 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7688C>T (p.Thr2563Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584511] Chr5:112843282 [GRCh38]
Chr5:112178979 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6238T>G (p.Leu2080Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584409] Chr5:112841832 [GRCh38]
Chr5:112177529 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6245A>C (p.Asp2082Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584410] Chr5:112841839 [GRCh38]
Chr5:112177536 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.202T>G (p.Leu68Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537761] Chr5:112766392 [GRCh38]
Chr5:112102089 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5858del (p.Asn1953fs) deletion Familial adenomatous polyposis 1 [RCV003537803] Chr5:112841451 [GRCh38]
Chr5:112177148 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6798A>G (p.Thr2266=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584425] Chr5:112842392 [GRCh38]
Chr5:112178089 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7232A>G (p.Asn2411Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003817528] Chr5:112842826 [GRCh38]
Chr5:112178523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6915A>C (p.Arg2305Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584444] Chr5:112842509 [GRCh38]
Chr5:112178206 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6922A>T (p.Thr2308Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584445] Chr5:112842516 [GRCh38]
Chr5:112178213 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3662C>A (p.Pro1221His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537840] Chr5:112839256 [GRCh38]
Chr5:112174953 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7071G>T (p.Lys2357Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584463] Chr5:112842665 [GRCh38]
Chr5:112178362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2098G>C (p.Asp700His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537879] Chr5:112837692 [GRCh38]
Chr5:112173389 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7652A>G (p.His2551Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536303] Chr5:112843246 [GRCh38]
Chr5:112178943 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2957A>T (p.Tyr986Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538018] Chr5:112838551 [GRCh38]
Chr5:112174248 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2735T>C (p.Leu912Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538045] Chr5:112838329 [GRCh38]
Chr5:112174026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-20_1549-16del deletion Familial adenomatous polyposis 1 [RCV003537955] Chr5:112827906..112827910 [GRCh38]
Chr5:112163603..112163607 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.507A>G (p.Ile169Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537997] Chr5:112775713 [GRCh38]
Chr5:112111410 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3801T>C (p.Thr1267=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537909] Chr5:112839395 [GRCh38]
Chr5:112175092 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3111C>T (p.Asn1037=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003537975] Chr5:112838705 [GRCh38]
Chr5:112174402 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6123A>G (p.Glu2041=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536428] Chr5:112841717 [GRCh38]
Chr5:112177414 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2253_2257del (p.Leu752fs) deletion Familial adenomatous polyposis 1 [RCV003536316] Chr5:112837845..112837849 [GRCh38]
Chr5:112173542..112173546 [GRCh37]
Chr5:5q22.2		 pathogenic
NC_000005.10:g.112707471del deletion Familial adenomatous polyposis 1 [RCV003538028] Chr5:112707469 [GRCh38]
Chr5:112043166 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6086C>T (p.Ser2029Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003855930] Chr5:112841680 [GRCh38]
Chr5:112177377 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1321C>T (p.Pro441Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538052] Chr5:112821904 [GRCh38]
Chr5:112157601 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3675del (p.Lys1226fs) deletion Familial adenomatous polyposis 1 [RCV003538033] Chr5:112839268 [GRCh38]
Chr5:112174965 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2525_2528del (p.Asp842fs) deletion Familial adenomatous polyposis 1 [RCV003538036] Chr5:112838116..112838119 [GRCh38]
Chr5:112173813..112173816 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4235dup (p.Met1413fs) duplication Familial adenomatous polyposis 1 [RCV003538038] Chr5:112839827..112839828 [GRCh38]
Chr5:112175524..112175525 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4907A>G (p.Asp1636Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743134] Chr5:112840501 [GRCh38]
Chr5:112176198 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3083G>C (p.Ser1028Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536462] Chr5:112838677 [GRCh38]
Chr5:112174374 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2108C>A (p.Ala703Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536470] Chr5:112837702 [GRCh38]
Chr5:112173399 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7812C>T (p.Asn2604=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536504] Chr5:112843406 [GRCh38]
Chr5:112179103 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2202_2204dup (p.Ala735_Lys736insAla) duplication Familial adenomatous polyposis 1 [RCV003536511] Chr5:112837794..112837795 [GRCh38]
Chr5:112173491..112173492 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4793C>A (p.Ala1598Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585121] Chr5:112840387 [GRCh38]
Chr5:112176084 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.645+11T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003538128] Chr5:112780914 [GRCh38]
Chr5:112116611 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3381G>A (p.Gln1127=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538852]|Hereditary cancer-predisposing syndrome [RCV003585629] Chr5:112838975 [GRCh38]
Chr5:112174672 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3356A>G (p.His1119Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538108] Chr5:112838950 [GRCh38]
Chr5:112174647 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3292T>C (p.Cys1098Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538218] Chr5:112838886 [GRCh38]
Chr5:112174583 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7968T>C (p.Asp2656=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538119] Chr5:112843562 [GRCh38]
Chr5:112179259 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1973A>G (p.Glu658Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538129] Chr5:112837567 [GRCh38]
Chr5:112173264 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5088T>C (p.Ser1696=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585135] Chr5:112840682 [GRCh38]
Chr5:112176379 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5439A>G (p.Lys1813=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585137] Chr5:112841033 [GRCh38]
Chr5:112176730 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3912A>C (p.Ile1304=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538169] Chr5:112839506 [GRCh38]
Chr5:112175203 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+15A>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003538058] Chr5:112755040 [GRCh38]
Chr5:112090737 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3907C>G (p.Gln1303Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585043] Chr5:112839501 [GRCh38]
Chr5:112175198 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3914C>T (p.Ala1305Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585045] Chr5:112839508 [GRCh38]
Chr5:112175205 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.434T>C (p.Leu145Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743188] Chr5:112775640 [GRCh38]
Chr5:112111337 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5096A>C (p.Glu1699Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585136] Chr5:112840690 [GRCh38]
Chr5:112176387 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5782C>A (p.Gln1928Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585141] Chr5:112841376 [GRCh38]
Chr5:112177073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.730A>G (p.Arg244Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538146] Chr5:112801279 [GRCh38]
Chr5:112136976 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2799C>A (p.Asn933Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538147] Chr5:112838393 [GRCh38]
Chr5:112174090 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7952T>C (p.Val2651Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585653] Chr5:112843546 [GRCh38]
Chr5:112179243 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.395G>A (p.Gly132Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585662] Chr5:112767363 [GRCh38]
Chr5:112103060 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8488dup (p.Ser2830fs) duplication Hereditary cancer-predisposing syndrome [RCV003585671] Chr5:112844079..112844080 [GRCh38]
Chr5:112179776..112179777 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8489G>A (p.Ser2830Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585672] Chr5:112844083 [GRCh38]
Chr5:112179780 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8496_8497delinsAT (p.Arg2833Cys) indel Hereditary cancer-predisposing syndrome [RCV003585673] Chr5:112844090..112844091 [GRCh38]
Chr5:112179787..112179788 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4534G>C (p.Asp1512His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585088] Chr5:112840128 [GRCh38]
Chr5:112175825 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7864C>T (p.Pro2622Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538114] Chr5:112843458 [GRCh38]
Chr5:112179155 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4791T>G (p.Thr1597=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585119] Chr5:112840385 [GRCh38]
Chr5:112176082 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6591T>C (p.Ser2197=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743246] Chr5:112842185 [GRCh38]
Chr5:112177882 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1595A>C (p.Gln532Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536605] Chr5:112827975 [GRCh38]
Chr5:112163672 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4068A>G (p.Ser1356=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536599] Chr5:112839662 [GRCh38]
Chr5:112175359 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8532A>C (p.Ter2844Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585675] Chr5:112844126 [GRCh38]
Chr5:112179823 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6566A>T (p.Lys2189Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538935] Chr5:112842160 [GRCh38]
Chr5:112177857 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6583T>C (p.Tyr2195His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539063] Chr5:112842177 [GRCh38]
Chr5:112177874 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707480A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003539130] Chr5:112707480 [GRCh38]
Chr5:112043177 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8485C>G (p.Gln2829Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003854576] Chr5:112844079 [GRCh38]
Chr5:112179776 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3291A>G (p.Glu1097=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003815831] Chr5:112838885 [GRCh38]
Chr5:112174582 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8322T>A (p.Ser2774Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743333] Chr5:112843916 [GRCh38]
Chr5:112179613 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2346G>T (p.Lys782Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536720] Chr5:112837940 [GRCh38]
Chr5:112173637 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3104A>G (p.Gln1035Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536733] Chr5:112838698 [GRCh38]
Chr5:112174395 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3579G>T (p.Gln1193His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538156] Chr5:112839173 [GRCh38]
Chr5:112174870 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1678A>C (p.Lys560Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538157] Chr5:112828907 [GRCh38]
Chr5:112164604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8287A>C (p.Ser2763Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538215] Chr5:112843881 [GRCh38]
Chr5:112179578 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.376G>A (p.Gly126Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585641] Chr5:112767344 [GRCh38]
Chr5:112103041 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4954T>G (p.Ser1652Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003539016] Chr5:112840548 [GRCh38]
Chr5:112176245 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2109del (p.Val704fs) deletion Hereditary cancer-predisposing syndrome [RCV003585993] Chr5:112837703 [GRCh38]
Chr5:112173400 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.24GTT[1] (p.Leu10del) microsatellite Familial adenomatous polyposis 1 [RCV003837591] Chr5:112754914..112754916 [GRCh38]
Chr5:112090611..112090613 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6461A>C (p.Gln2154Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743142] Chr5:112842055 [GRCh38]
Chr5:112177752 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4053del (p.Val1352fs) deletion Familial adenomatous polyposis 1 [RCV003743146] Chr5:112839647 [GRCh38]
Chr5:112175344 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2555T>C (p.Leu852Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536402] Chr5:112838149 [GRCh38]
Chr5:112173846 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7835G>C (p.Trp2612Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743178] Chr5:112843429 [GRCh38]
Chr5:112179126 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6878G>A (p.Gly2293Asp) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536500] Chr5:112842472 [GRCh38]
Chr5:112178169 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.874_875del (p.Leu292fs) deletion Familial adenomatous polyposis 1 [RCV003536501] Chr5:112815532..112815533 [GRCh38]
Chr5:112151229..112151230 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8432ACA[1] (p.Asn2812del) microsatellite Familial adenomatous polyposis 1 [RCV003536453] Chr5:112844025..112844027 [GRCh38]
Chr5:112179722..112179724 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1523T>C (p.Leu508Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744260] Chr5:112827222 [GRCh38]
Chr5:112162919 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6298G>A (p.Asp2100Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744293] Chr5:112841892 [GRCh38]
Chr5:112177589 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2037T>C (p.Asn679=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743095] Chr5:112837631 [GRCh38]
Chr5:112173328 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3071C>A (p.Pro1024Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743258] Chr5:112838665 [GRCh38]
Chr5:112174362 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2782G>C (p.Ala928Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536563] Chr5:112838376 [GRCh38]
Chr5:112174073 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-25_1744-13del deletion Familial adenomatous polyposis 1 [RCV003536587] Chr5:112834926..112834938 [GRCh38]
Chr5:112170623..112170635 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1924G>T (p.Val642Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744312] Chr5:112835131 [GRCh38]
Chr5:112170828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548+14A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003854865] Chr5:112827261 [GRCh38]
Chr5:112162958 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3135G>T (p.Gln1045His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745640] Chr5:112838729 [GRCh38]
Chr5:112174426 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.139G>T (p.Val47Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536698] Chr5:112766329 [GRCh38]
Chr5:112102026 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5578G>T (p.Asp1860Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536719] Chr5:112841172 [GRCh38]
Chr5:112176869 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6230C>A (p.Thr2077Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745692] Chr5:112841824 [GRCh38]
Chr5:112177521 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1312+11T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745707] Chr5:112819355 [GRCh38]
Chr5:112155052 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.135+10C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003536109] Chr5:112755035 [GRCh38]
Chr5:112090732 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5361A>T (p.Thr1787=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536134] Chr5:112840955 [GRCh38]
Chr5:112176652 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4208G>C (p.Ser1403Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745722] Chr5:112839802 [GRCh38]
Chr5:112175499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6479C>A (p.Thr2160Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536791] Chr5:112842073 [GRCh38]
Chr5:112177770 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2865A>G (p.Glu955=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745751] Chr5:112838459 [GRCh38]
Chr5:112174156 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2283A>G (p.Glu761=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536848] Chr5:112837877 [GRCh38]
Chr5:112173574 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.682_710del (p.Ile228fs) deletion Familial adenomatous polyposis 1 [RCV003744386] Chr5:112792481..112792509 [GRCh38]
Chr5:112128178..112128206 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7233T>G (p.Asn2411Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744492] Chr5:112842827 [GRCh38]
Chr5:112178524 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7647T>C (p.Arg2549=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536231] Chr5:112843241 [GRCh38]
Chr5:112178938 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6195C>T (p.Pro2065=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003811861] Chr5:112841789 [GRCh38]
Chr5:112177486 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707386del deletion Familial adenomatous polyposis 1 [RCV003535101] Chr5:112707384 [GRCh38]
Chr5:112043081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5628G>A (p.Arg1876=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535144]|Hereditary cancer-predisposing syndrome [RCV003584112] Chr5:112841222 [GRCh38]
Chr5:112176919 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4696G>A (p.Asp1566Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745794] Chr5:112840290 [GRCh38]
Chr5:112175987 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5423A>G (p.Asn1808Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745840] Chr5:112841017 [GRCh38]
Chr5:112176714 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6765T>G (p.Thr2255=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536812] Chr5:112842359 [GRCh38]
Chr5:112178056 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3335C>T (p.Thr1112Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536915] Chr5:112838929 [GRCh38]
Chr5:112174626 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7483A>G (p.Thr2495Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745801] Chr5:112843077 [GRCh38]
Chr5:112178774 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6018C>G (p.Gly2006=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536240] Chr5:112841612 [GRCh38]
Chr5:112177309 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8367C>A (p.Ser2789Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744489] Chr5:112843961 [GRCh38]
Chr5:112179658 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2408C>A (p.Thr803Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536260] Chr5:112838002 [GRCh38]
Chr5:112173699 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1290_1300del (p.Met431fs) deletion Familial adenomatous polyposis 1 [RCV003535163] Chr5:112819316..112819326 [GRCh38]
Chr5:112155013..112155023 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1472_1473dup (p.His492fs) duplication Familial adenomatous polyposis 1 [RCV003535164] Chr5:112827170..112827171 [GRCh38]
Chr5:112162867..112162868 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4325C>G (p.Pro1442Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535169] Chr5:112839919 [GRCh38]
Chr5:112175616 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6362C>G (p.Ala2121Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535110] Chr5:112841956 [GRCh38]
Chr5:112177653 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7789_7790delinsTT (p.Gly2597Leu) indel Familial adenomatous polyposis 1 [RCV003535123] Chr5:112843383..112843384 [GRCh38]
Chr5:112179080..112179081 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6208G>A (p.Gly2070Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536895] Chr5:112841802 [GRCh38]
Chr5:112177499 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.309A>T (p.Val103=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536912] Chr5:112767277 [GRCh38]
Chr5:112102974 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707353A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003536289] Chr5:112707353 [GRCh38]
Chr5:112043050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6806C>T (p.Thr2269Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535133] Chr5:112842400 [GRCh38]
Chr5:112178097 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3916G>A (p.Glu1306Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003851680] Chr5:112839510 [GRCh38]
Chr5:112175207 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1626+16T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744104] Chr5:112828022 [GRCh38]
Chr5:112163719 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.17A>G (p.Tyr6Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535314] Chr5:112754907 [GRCh38]
Chr5:112090604 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2163A>C (p.Gly721=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743121] Chr5:112837757 [GRCh38]
Chr5:112173454 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7621A>T (p.Ile2541Phe) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743138] Chr5:112843215 [GRCh38]
Chr5:112178912 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-16G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003743140] Chr5:112766310 [GRCh38]
Chr5:112102007 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2978A>T (p.Lys993Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003634199] Chr5:112838572 [GRCh38]
Chr5:112174269 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2972A>G (p.Glu991Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003634205] Chr5:112838566 [GRCh38]
Chr5:112174263 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.801A>G (p.Gly267=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743155] Chr5:112801350 [GRCh38]
Chr5:112137047 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5228T>G (p.Val1743Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743161] Chr5:112840822 [GRCh38]
Chr5:112176519 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744G>C (p.Glu582Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743169] Chr5:112834951 [GRCh38]
Chr5:112170648 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6451A>T (p.Thr2151Ser) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743179] Chr5:112842045 [GRCh38]
Chr5:112177742 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.532-10G>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003743190] Chr5:112780780 [GRCh38]
Chr5:112116477 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2652A>G (p.Ala884=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536471] Chr5:112838246 [GRCh38]
Chr5:112173943 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1535_1540del (p.Asp512_Val513del) deletion Familial adenomatous polyposis 1 [RCV003744226] Chr5:112827232..112827237 [GRCh38]
Chr5:112162929..112162934 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6783_6786dup (p.Glu2263Ter) duplication Familial adenomatous polyposis 1 [RCV003744239] Chr5:112842376..112842377 [GRCh38]
Chr5:112178073..112178074 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.303A>T (p.Gly101=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003743204] Chr5:112767271 [GRCh38]
Chr5:112102968 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1302_1312+184del deletion Familial adenomatous polyposis 1 [RCV003536551] Chr5:112819330..112819524 [GRCh38]
Chr5:112155027..112155221 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.6144A>G (p.Pro2048=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536549] Chr5:112841738 [GRCh38]
Chr5:112177435 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.556A>C (p.Arg186=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536586] Chr5:112780814 [GRCh38]
Chr5:112116511 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8232T>A (p.Asn2744Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744279] Chr5:112843826 [GRCh38]
Chr5:112179523 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1744-429C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003744298] Chr5:112834522 [GRCh38]
Chr5:112170219 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6019T>A (p.Tyr2007Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003634381] Chr5:112841613 [GRCh38]
Chr5:112177310 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4884G>A (p.Lys1628=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745629] Chr5:112840478 [GRCh38]
Chr5:112176175 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1627-17A>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003536681] Chr5:112828839 [GRCh38]
Chr5:112164536 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5609A>G (p.Asp1870Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745657] Chr5:112841203 [GRCh38]
Chr5:112176900 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.638G>T (p.Arg213Leu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536643] Chr5:112780896 [GRCh38]
Chr5:112116593 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2212A>G (p.Lys738Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745664] Chr5:112837806 [GRCh38]
Chr5:112173503 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3879A>G (p.Thr1293=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745677] Chr5:112839473 [GRCh38]
Chr5:112175170 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3802C>G (p.Pro1268Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003814497] Chr5:112839396 [GRCh38]
Chr5:112175093 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.646-15C>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745738] Chr5:112792431 [GRCh38]
Chr5:112128128 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7759G>A (p.Glu2587Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745740] Chr5:112843353 [GRCh38]
Chr5:112179050 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4865del (p.Asn1622fs) deletion Familial adenomatous polyposis 1 [RCV003837370] Chr5:112840456 [GRCh38]
Chr5:112176153 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4949A>T (p.Asn1650Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536143] Chr5:112840543 [GRCh38]
Chr5:112176240 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.8426T>C (p.Val2809Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744387] Chr5:112844020 [GRCh38]
Chr5:112179717 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.729+18C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003744497] Chr5:112792547 [GRCh38]
Chr5:112128244 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3731A>C (p.Gln1244Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745753] Chr5:112839325 [GRCh38]
Chr5:112175022 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6137C>T (p.Ala2046Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536766] Chr5:112841731 [GRCh38]
Chr5:112177428 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.523A>C (p.Thr175Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745776] Chr5:112775729 [GRCh38]
Chr5:112111426 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4897dup (p.Thr1633fs) duplication Familial adenomatous polyposis 1 [RCV003536849] Chr5:112840490..112840491 [GRCh38]
Chr5:112176187..112176188 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.258A>G (p.Lys86=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745851] Chr5:112767226 [GRCh38]
Chr5:112102923 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7537C>G (p.Pro2513Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745817] Chr5:112843131 [GRCh38]
Chr5:112178828 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.147dup (p.Gln50fs) duplication Familial adenomatous polyposis 1 [RCV003850046] Chr5:112766334..112766335 [GRCh38]
Chr5:112102031..112102032 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.7057A>G (p.Thr2353Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536929] Chr5:112842651 [GRCh38]
Chr5:112178348 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6086C>G (p.Ser2029Cys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003536314] Chr5:112841680 [GRCh38]
Chr5:112177377 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6733C>A (p.Pro2245Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535225] Chr5:112842327 [GRCh38]
Chr5:112178024 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6582_6583del (p.Val2194_Tyr2195insTer) deletion Familial adenomatous polyposis 1 [RCV003744056] Chr5:112842175..112842176 [GRCh38]
Chr5:112177872..112177873 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.8288G>A (p.Ser2763Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003744077] Chr5:112843882 [GRCh38]
Chr5:112179579 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1627-12A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003535280] Chr5:112828844 [GRCh38]
Chr5:112164541 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7980A>G (p.Arg2660=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003815031] Chr5:112843574 [GRCh38]
Chr5:112179271 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2075C>G (p.Pro692Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003538866]|Hereditary cancer-predisposing syndrome [RCV003584028] Chr5:112837669 [GRCh38]
Chr5:112173366 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4726G>C (p.Glu1576Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535315] Chr5:112840320 [GRCh38]
Chr5:112176017 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3149C>T (p.Ala1050Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003535283] Chr5:112838743 [GRCh38]
Chr5:112174440 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1409-4T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003744079] Chr5:112827104 [GRCh38]
Chr5:112162801 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6258A>C (p.Pro2086=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003864814] Chr5:112841852 [GRCh38]
Chr5:112177549 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.126C>T (p.Gly42=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003848485] Chr5:112707843 [GRCh38]
Chr5:112043540 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5963A>G (p.Lys1988Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003857443] Chr5:112841557 [GRCh38]
Chr5:112177254 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1531G>A (p.Gly511Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003858457] Chr5:112827230 [GRCh38]
Chr5:112162927 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4612G>A (p.Glu1538Lys) single nucleotide variant Familial adenomatous polyposis 1 [RCV003858539] Chr5:112840206 [GRCh38]
Chr5:112175903 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2041T>C (p.Cys681Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003862729] Chr5:112837635 [GRCh38]
Chr5:112173332 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707322A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003865235] Chr5:112707322 [GRCh38]
Chr5:112043019 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2625G>A (p.Lys875=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003857280] Chr5:112838219 [GRCh38]
Chr5:112173916 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.5352A>G (p.Glu1784=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003822063] Chr5:112840946 [GRCh38]
Chr5:112176643 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.8C>A (p.Ala3Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003865487] Chr5:112754898 [GRCh38]
Chr5:112090595 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6068G>T (p.Arg2023Ile) single nucleotide variant Familial adenomatous polyposis 1 [RCV003857947] Chr5:112841662 [GRCh38]
Chr5:112177359 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4359_4360delinsCG (p.Lys1454Glu) indel Familial adenomatous polyposis 1 [RCV003863008] Chr5:112839953..112839954 [GRCh38]
Chr5:112175650..112175651 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1549-17C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745900] Chr5:112827912 [GRCh38]
Chr5:112163609 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4645C>G (p.Gln1549Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745901] Chr5:112840239 [GRCh38]
Chr5:112175936 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5560T>C (p.Tyr1854His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003746000] Chr5:112841154 [GRCh38]
Chr5:112176851 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1338C>G (p.Ile446Met) single nucleotide variant Familial adenomatous polyposis 1 [RCV003746002] Chr5:112821921 [GRCh38]
Chr5:112157618 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4117C>G (p.Pro1373Ala) single nucleotide variant Familial adenomatous polyposis 1 [RCV003845167] Chr5:112839711 [GRCh38]
Chr5:112175408 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.609A>C (p.Gln203His) single nucleotide variant Familial adenomatous polyposis 1 [RCV003859957] Chr5:112780867 [GRCh38]
Chr5:112116564 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2057A>C (p.Asn686Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003867290] Chr5:112837651 [GRCh38]
Chr5:112173348 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5507G>A (p.Gly1836Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003871541] Chr5:112841101 [GRCh38]
Chr5:112176798 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.5989G>A (p.Gly1997Arg) single nucleotide variant Familial adenomatous polyposis 1 [RCV003843786] Chr5:112841583 [GRCh38]
Chr5:112177280 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.152C>A (p.Ala51Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003871671] Chr5:112707869 [GRCh38]
Chr5:112043566 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.7981A>G (p.Ile2661Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003868309] Chr5:112843575 [GRCh38]
Chr5:112179272 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1 copy number loss not specified [RCV003986577] Chr5:93828571..123711334 [GRCh37]
Chr5:5q15-23.2		 pathogenic
NM_000038.6(APC):c.750T>C (p.His250=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003746009] Chr5:112801299 [GRCh38]
Chr5:112136996 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3430A>G (p.Ser1144Gly) single nucleotide variant Familial adenomatous polyposis 1 [RCV003866939] Chr5:112839024 [GRCh38]
Chr5:112174721 [GRCh37]
Chr5:5q22.2		 uncertain significance
GRCh37/hg19 5q22.2(chr5:111804505-112842185)x3 copy number gain not specified [RCV003986604] Chr5:111804505..112842185 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4630G>C (p.Glu1544Gln) single nucleotide variant Familial adenomatous polyposis 1 [RCV003868590] Chr5:112840224 [GRCh38]
Chr5:112175921 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.3651T>C (p.Asn1217=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745917] Chr5:112839245 [GRCh38]
Chr5:112174942 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4870T>C (p.Leu1624=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745918] Chr5:112840464 [GRCh38]
Chr5:112176161 [GRCh37]
Chr5:5q22.2		 likely benign
NC_000005.10:g.112707424G>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003869908] Chr5:112707424 [GRCh38]
Chr5:112043121 [GRCh37]
Chr5:5q22.2		 uncertain significance
NC_000005.10:g.112707476C>T single nucleotide variant Familial adenomatous polyposis 1 [RCV003858604] Chr5:112707476 [GRCh38]
Chr5:112043173 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.6910T>C (p.Ser2304Pro) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745933] Chr5:112842504 [GRCh38]
Chr5:112178201 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-16G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003745938] Chr5:112766310 [GRCh38]
Chr5:112102007 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.221-12T>A single nucleotide variant Familial adenomatous polyposis 1 [RCV003745939] Chr5:112767177 [GRCh38]
Chr5:112102874 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-4T>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003745958] Chr5:112792442 [GRCh38]
Chr5:112128139 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.7266T>C (p.Thr2422=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745961] Chr5:112842860 [GRCh38]
Chr5:112178557 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4959A>G (p.Thr1653=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745968] Chr5:112840553 [GRCh38]
Chr5:112176250 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4382A>T (p.Glu1461Val) single nucleotide variant Familial adenomatous polyposis 1 [RCV003745993] Chr5:112839976 [GRCh38]
Chr5:112175673 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4759TCA[1] (p.Ser1588del) microsatellite Familial adenomatous polyposis 1 [RCV003746004] Chr5:112840353..112840355 [GRCh38]
Chr5:112176050..112176052 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4123C>T (p.His1375Tyr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003862141] Chr5:112839717 [GRCh38]
Chr5:112175414 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.4538_4558del (p.Glu1513_Asp1519del) deletion Familial adenomatous polyposis 1 [RCV003859044] Chr5:112840128..112840148 [GRCh38]
Chr5:112175825..112175845 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.1548+18G>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003841558] Chr5:112827265 [GRCh38]
Chr5:112162962 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.6513G>C (p.Gly2171=) single nucleotide variant Familial adenomatous polyposis 1 [RCV003847816] Chr5:112842107 [GRCh38]
Chr5:112177804 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.4756A>G (p.Lys1586Glu) single nucleotide variant Familial adenomatous polyposis 1 [RCV003823835] Chr5:112840350 [GRCh38]
Chr5:112176047 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.136-8T>C single nucleotide variant Familial adenomatous polyposis 1 [RCV003822345] Chr5:112766318 [GRCh38]
Chr5:112102015 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.136-11C>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003822370] Chr5:112766315 [GRCh38]
Chr5:112102012 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.3673G>A (p.Ala1225Thr) single nucleotide variant Familial adenomatous polyposis 1 [RCV003843922] Chr5:112839267 [GRCh38]
Chr5:112174964 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.884G>A (p.Ser295Asn) single nucleotide variant Familial adenomatous polyposis 1 [RCV003846946] Chr5:112815544 [GRCh38]
Chr5:112151241 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+541G>A single nucleotide variant APC-related condition [RCV003947394] Chr5:112738466 [GRCh38]
Chr5:112074163 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+29214A>C single nucleotide variant APC-related condition [RCV003894588] Chr5:112737096 [GRCh38]
Chr5:112072793 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1700del (p.Gly567fs) deletion Familial adenomatous polyposis 1 [RCV003989078] Chr5:112828928 [GRCh38]
Chr5:112164625 [GRCh37]		 likely pathogenic
NM_001127511.3(APC):c.166-29198A>G single nucleotide variant APC-related condition [RCV003943814] Chr5:112737128 [GRCh38]
Chr5:112072825 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.165+29215A>G single nucleotide variant APC-related condition [RCV003959538] Chr5:112737097 [GRCh38]
Chr5:112072794 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+739A>G single nucleotide variant APC-related condition [RCV003969706] Chr5:112822730 [GRCh38]
Chr5:112158427 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+475G>C single nucleotide variant APC-related condition [RCV003956705] Chr5:112738400 [GRCh38]
Chr5:112074097 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.87C>A (p.Gly29=) single nucleotide variant APC-related condition [RCV003944374] Chr5:112707804 [GRCh38]
Chr5:112043501 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28533G>T single nucleotide variant APC-related condition [RCV003949382] Chr5:112737793 [GRCh38]
Chr5:112073490 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+1330C>T single nucleotide variant APC-related condition [RCV003976297] Chr5:112823321 [GRCh38]
Chr5:112159018 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28597C>T single nucleotide variant APC-related condition [RCV003969379] Chr5:112737729 [GRCh38]
Chr5:112073426 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28585C>A single nucleotide variant APC-related condition [RCV003911661] Chr5:112737741 [GRCh38]
Chr5:112073438 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.-19+529G>A single nucleotide variant APC-related condition [RCV003961407] Chr5:112738454 [GRCh38]
Chr5:112074151 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.646-20_646-7del deletion APC-related condition [RCV003983346] Chr5:112792423..112792436 [GRCh38]
Chr5:112128120..112128133 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.-19+493A>G single nucleotide variant APC-related condition [RCV003921540] Chr5:112738418 [GRCh38]
Chr5:112074115 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28533G>C single nucleotide variant APC-related condition [RCV003924743] Chr5:112737793 [GRCh38]
Chr5:112073490 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-17_423-16insTA insertion APC-related condition [RCV003941976] Chr5:112775612..112775613 [GRCh38]
Chr5:112111309..112111310 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-18_423-17insA insertion APC-related condition [RCV003893817] Chr5:112775611..112775612 [GRCh38]
Chr5:112111308..112111309 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2500T>G (p.Ser834Ala) single nucleotide variant APC-related condition [RCV003909345] Chr5:112838094 [GRCh38]
Chr5:112173791 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.166-28799A>G single nucleotide variant APC-related condition [RCV003904205] Chr5:112737527 [GRCh38]
Chr5:112073224 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+1330del deletion APC-related condition [RCV003922098] Chr5:112823319 [GRCh38]
Chr5:112159016 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_001127511.3(APC):c.166-28563del deletion APC-related condition [RCV003954464] Chr5:112737763 [GRCh38]
Chr5:112073460 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2081del (p.Asp694fs) deletion Familial adenomatous polyposis 1 [RCV003985055] Chr5:112837675 [GRCh38]
Chr5:112173372 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_000038.6(APC):c.2614del (p.Thr872fs) deletion Familial adenomatous polyposis 1 [RCV003886318] Chr5:112838207 [GRCh38]
Chr5:112173904 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.6051C>T (p.Thr2017=) single nucleotide variant APC-related condition [RCV003962179] Chr5:112841645 [GRCh38]
Chr5:112177342 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28658G>T single nucleotide variant APC-related condition [RCV003929773] Chr5:112737668 [GRCh38]
Chr5:112073365 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-29144C>G single nucleotide variant APC-related condition [RCV003971414] Chr5:112737182 [GRCh38]
Chr5:112072879 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28631G>T single nucleotide variant APC-related condition [RCV003971416] Chr5:112737695 [GRCh38]
Chr5:112073392 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-29203A>G single nucleotide variant APC-related condition [RCV003896792] Chr5:112737123 [GRCh38]
Chr5:112072820 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28547A>G single nucleotide variant APC-related condition [RCV003957191] Chr5:112737779 [GRCh38]
Chr5:112073476 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28721T>C single nucleotide variant APC-related condition [RCV003901846] Chr5:112737605 [GRCh38]
Chr5:112073302 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28727_166-28726del deletion APC-related condition [RCV003906897] Chr5:112737598..112737599 [GRCh38]
Chr5:112073295..112073296 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.423-17del deletion APC-related condition [RCV003976929] Chr5:112775606 [GRCh38]
Chr5:112111303 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28745C>T single nucleotide variant APC-related condition [RCV003904532] Chr5:112737581 [GRCh38]
Chr5:112073278 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28594A>G single nucleotide variant APC-related condition [RCV003923944] Chr5:112737732 [GRCh38]
Chr5:112073429 [GRCh37]
Chr5:5q22.2		 likely benign
NM_001127511.3(APC):c.166-28911C>T single nucleotide variant APC-related condition [RCV003927116] Chr5:112737415 [GRCh38]
Chr5:112073112 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.1408+1316G>A single nucleotide variant APC-related condition [RCV003897217] Chr5:112823307 [GRCh38]
Chr5:112159004 [GRCh37]
Chr5:5q22.2		 uncertain significance
NM_001127511.3(APC):c.165+29190C>T single nucleotide variant APC-related condition [RCV003963896] Chr5:112737072 [GRCh38]
Chr5:112072769 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.2237del (p.Gly746fs) deletion Familial adenomatous polyposis 1 [RCV003335537] Chr5:112837830 [GRCh38]
Chr5:112173527 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2598_2599delinsC (p.Thr867fs) indel Familial adenomatous polyposis 1 [RCV003334850] Chr5:112838192..112838193 [GRCh38]
Chr5:112173889..112173890 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1522_1545delinsA (p.Leu508fs) indel Familial adenomatous polyposis 1 [RCV003334604] Chr5:112827221..112827244 [GRCh38]
Chr5:112162918..112162941 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1677_1683del (p.Ser559fs) deletion Familial adenomatous polyposis 1 [RCV003334863] Chr5:112828904..112828910 [GRCh38]
Chr5:112164601..112164607 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.4633_4636del (p.Ser1545fs) deletion Familial adenomatous polyposis 1 [RCV003334864] Chr5:112840225..112840228 [GRCh38]
Chr5:112175922..112175925 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1201_1204del (p.Arg401fs) microsatellite Familial adenomatous polyposis 1 [RCV003334917] Chr5:112819229..112819232 [GRCh38]
Chr5:112154926..112154929 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1549-2A>G single nucleotide variant Familial adenomatous polyposis 1 [RCV003334919] Chr5:112827927 [GRCh38]
Chr5:112163624 [GRCh37]
Chr5:5q22.2		 likely pathogenic
NM_000038.6(APC):c.3328del (p.Ser1110fs) deletion Familial adenomatous polyposis 1 [RCV003334920]|Familial adenomatous polyposis 1 [RCV003535009] Chr5:112838921 [GRCh38]
Chr5:112174618 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.323dup (p.Glu109fs) duplication Familial adenomatous polyposis 1 [RCV003334516] Chr5:112767289..112767290 [GRCh38]
Chr5:112102986..112102987 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.2177dup (p.Leu726fs) duplication Familial adenomatous polyposis 1 [RCV003334539] Chr5:112837768..112837769 [GRCh38]
Chr5:112173465..112173466 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.3639A>T (p.Ser1213=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003360728] Chr5:112839233 [GRCh38]
Chr5:112174930 [GRCh37]
Chr5:5q22.2		 likely benign
NM_000038.6(APC):c.897del (p.Ala300fs) deletion Familial adenomatous polyposis 1 [RCV003334681] Chr5:112815557 [GRCh38]
Chr5:112151254 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.601del (p.Glu201fs) deletion Familial adenomatous polyposis 1 [RCV003335566] Chr5:112780858 [GRCh38]
Chr5:112116555 [GRCh37]
Chr5:5q22.2		 pathogenic
NM_000038.6(APC):c.1873del (p.Gln625fs) deletion Familial adenomatous polyposis 1 [RCV003335534] Chr5:112835079 [GRCh38]
Chr5:112170776 [GRCh37]
Chr5:5q22.2		 pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR27Bhsa-miR-27b-3pOncomiRDBexternal_infoNANA22018270
MIR27Ahsa-miR-27a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI22018270
MIR135Bhsa-miR-135b-5pMirecordsexternal_info{changed}NA18632633
MIR135Bhsa-miR-135b-5pOncomiRDBexternal_infoNANA18632633
MIR27Ahsa-miR-27a-3pOncomiRDBexternal_infoNANA22018270
MIR135A1hsa-miR-135a-5pOncomiRDBexternal_infoNANA21552288
MIR135A1hsa-miR-135a-5pOncomiRDBexternal_infoNANA18632633
MIR106Bhsa-miR-106b-5pMirtarbaseexternal_infoFlow//Immunofluorescence//Luciferase reporter assaFunctional MTI23087084
MIR106Bhsa-miR-106b-5pOncomiRDBexternal_infoNANA23087084
MIR155hsa-miR-155-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19136465
MIR135A2hsa-miR-135a-5pOncomiRDBexternal_infoNANA21552288
MIR135A2hsa-miR-135a-5pOncomiRDBexternal_infoNANA18632633

Predicted Target Of
Summary Value
Count of predictions:4849
Count of miRNA genes:1316
Interacting mature miRNAs:1707
Transcripts:ENST00000257430, ENST00000457016, ENST00000502371, ENST00000504915, ENST00000505084, ENST00000505350, ENST00000506342, ENST00000507379, ENST00000508376, ENST00000508624, ENST00000509732, ENST00000512211, ENST00000514164
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
A005A37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,091,376 - 112,091,479UniSTSGRCh37
Build 365112,119,275 - 112,119,378RGDNCBI36
Celera5108,036,964 - 108,037,067RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,270,497 - 107,270,600UniSTS
GeneMap99-GB4 RH Map5469.3UniSTS
SGC32298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,177,266 - 112,177,415UniSTSGRCh37
Build 365112,205,165 - 112,205,314RGDNCBI36
Celera5108,122,833 - 108,122,982RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,356,360 - 107,356,509UniSTS
GeneMap99-GB4 RH Map5469.72UniSTS
Whitehead-RH Map5374.9UniSTS
RH65746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,082,174 - 112,082,255UniSTSGRCh37
Build 365112,110,073 - 112,110,154RGDNCBI36
Celera5108,027,758 - 108,027,839RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,261,292 - 107,261,373UniSTS
GeneMap99-GB4 RH Map5470.24UniSTS
NCBI RH Map5781.8UniSTS
WI-20484  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,165,242 - 112,165,512UniSTSGRCh37
Build 365112,193,141 - 112,193,411RGDNCBI36
Celera5108,110,818 - 108,111,088RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,344,345 - 107,344,615UniSTS
GeneMap99-GB4 RH Map5470.54UniSTS
Whitehead-RH Map5378.7UniSTS
NCBI RH Map5782.7UniSTS
RH81025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,181,485 - 112,181,712UniSTSGRCh37
Build 365112,209,384 - 112,209,611RGDNCBI36
Celera5108,127,052 - 108,127,279RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,360,579 - 107,360,806UniSTS
RH94067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,181,374 - 112,181,508UniSTSGRCh37
Build 365112,209,273 - 112,209,407RGDNCBI36
Celera5108,126,941 - 108,127,075RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,360,468 - 107,360,602UniSTS
GeneMap99-GB4 RH Map5470.64UniSTS
Apc  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,176,032 - 112,176,247UniSTSGRCh37
Build 365112,203,931 - 112,204,146RGDNCBI36
Celera5108,121,599 - 108,121,814RGD
HuRef5107,355,126 - 107,355,341UniSTS
D5S1670E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,180,251 - 112,180,350UniSTSGRCh37
Build 365112,208,150 - 112,208,249RGDNCBI36
Celera5108,125,818 - 108,125,917RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,359,345 - 107,359,444UniSTS
GDB:186686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,162,768 - 112,162,982UniSTSGRCh37
Build 365112,190,667 - 112,190,881RGDNCBI36
Celera5108,108,344 - 108,108,558RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,341,871 - 107,342,085UniSTS
GDB:186687  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,176,282 - 112,176,448UniSTSGRCh37
Build 365112,204,181 - 112,204,347RGDNCBI36
Celera5108,121,849 - 108,122,015RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,355,376 - 107,355,542UniSTS
GDB:249461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,154,898 - 112,155,083UniSTSGRCh37
Build 365112,182,797 - 112,182,982RGDNCBI36
Celera5108,100,474 - 108,100,659RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,334,002 - 107,334,187UniSTS
GDB:249465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,175,070 - 112,175,519UniSTSGRCh37
Build 365112,202,969 - 112,203,418RGDNCBI36
Celera5108,120,637 - 108,121,086RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,354,164 - 107,354,613UniSTS
GDB:374804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,174,706 - 112,175,140UniSTSGRCh37
Build 365112,202,605 - 112,203,039RGDNCBI36
Celera5108,120,273 - 108,120,707RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,353,800 - 107,354,234UniSTS
GDB:374809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,175,058 - 112,175,439UniSTSGRCh37
Build 365112,202,957 - 112,203,338RGDNCBI36
Celera5108,120,625 - 108,121,006RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,354,152 - 107,354,533UniSTS
GDB:374815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,174,071 - 112,174,452UniSTSGRCh37
Build 365112,201,970 - 112,202,351RGDNCBI36
Celera5108,119,638 - 108,120,019RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,353,165 - 107,353,546UniSTS
GDB:437971  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,174,285 - 112,175,519UniSTSGRCh37
Build 365112,202,184 - 112,203,418RGDNCBI36
Celera5108,119,852 - 108,121,086RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,353,379 - 107,354,613UniSTS
GDB:456137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,128,067 - 112,128,270UniSTSGRCh37
Build 365112,155,966 - 112,156,169RGDNCBI36
Celera5108,073,649 - 108,073,852RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,307,180 - 107,307,383UniSTS
GDB:555538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,174,285 - 112,174,516UniSTSGRCh37
Build 365112,202,184 - 112,202,415RGDNCBI36
Celera5108,119,852 - 108,120,083RGD
Cytogenetic Map5q21-q22UniSTS
SHGC-149076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,120,065 - 112,120,171UniSTSGRCh37
Build 365112,147,964 - 112,148,070RGDNCBI36
Celera5108,065,651 - 108,065,757RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,299,182 - 107,299,288UniSTS
TNG Radiation Hybrid Map550315.0UniSTS
SHGC-36883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,162,132 - 112,162,239UniSTSGRCh37
Build 365112,190,031 - 112,190,138RGDNCBI36
Celera5108,107,708 - 108,107,815RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,341,236 - 107,341,343UniSTS
Stanford-G3 RH Map54403.0UniSTS
GeneMap99-G3 RH Map54491.0UniSTS
STS-R39438  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,165,468 - 112,165,607UniSTSGRCh37
Build 365112,193,367 - 112,193,506RGDNCBI36
Celera5108,111,044 - 108,111,183RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,344,571 - 107,344,710UniSTS
GeneMap99-GB4 RH Map5470.64UniSTS
NCBI RH Map5783.9UniSTS
PMC122454P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,176,075 - 112,176,392UniSTSGRCh37
Build 365112,203,974 - 112,204,291RGDNCBI36
Celera5108,121,642 - 108,121,959RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,355,169 - 107,355,486UniSTS
PMC122454P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,170,775 - 112,170,865UniSTSGRCh37
Build 365112,198,674 - 112,198,764RGDNCBI36
Celera5108,116,348 - 108,116,438RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,349,877 - 107,349,967UniSTS
PMC122454P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,074,130 - 112,074,318UniSTSGRCh37
Build 365112,102,029 - 112,102,217RGDNCBI36
Celera5108,019,714 - 108,019,902RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,253,250 - 107,253,438UniSTS
PMC122454P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,175,704 - 112,176,211UniSTSGRCh37
Build 365112,203,603 - 112,204,110RGDNCBI36
Celera5108,121,271 - 108,121,778RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,354,798 - 107,355,305UniSTS
PMC122454P8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,176,075 - 112,176,211UniSTSGRCh37
Build 365112,203,974 - 112,204,110RGDNCBI36
Celera5108,121,642 - 108,121,778RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,355,169 - 107,355,305UniSTS
RH48628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,144,382 - 112,144,571UniSTSGRCh37
Build 365112,172,281 - 112,172,470RGDNCBI36
Celera5108,089,962 - 108,090,151RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,323,489 - 107,323,678UniSTS
GeneMap99-GB4 RH Map5470.64UniSTS
NCBI RH Map5823.0UniSTS
SHGC-31463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,179,878 - 112,180,098UniSTSGRCh37
Build 365112,207,777 - 112,207,997RGDNCBI36
Celera5108,125,445 - 108,125,665RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,358,972 - 107,359,192UniSTS
GeneMap99-G3 RH Map54517.0UniSTS
RH66045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,149,193 - 112,149,340UniSTSGRCh37
Build 365112,177,092 - 112,177,239RGDNCBI36
Celera5108,094,773 - 108,094,920RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,328,300 - 107,328,447UniSTS
GeneMap99-GB4 RH Map5470.13UniSTS
humapc3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,074,127 - 112,074,226UniSTSGRCh37
Build 365112,102,026 - 112,102,125RGDNCBI36
Celera5108,019,711 - 108,019,810RGD
Cytogenetic Map5q21-q22UniSTS
HuRef5107,253,247 - 107,253,346UniSTS
GeneMap99-GB4 RH Map5469.61UniSTS
APC__4217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,179,375 - 112,180,271UniSTSGRCh37
Build 365112,207,274 - 112,208,170RGDNCBI36
Celera5108,124,942 - 108,125,838RGD
HuRef5107,358,469 - 107,359,365UniSTS
G32214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375112,091,376 - 112,091,479UniSTSGRCh37
Celera5108,036,964 - 108,037,067UniSTS
Cytogenetic Map5q21-q22UniSTS
HuRef5107,270,497 - 107,270,600UniSTS
GDB:186862  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q21-q22UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 565 420 101 30 620 32 889 372 2534 110 233 303 10 1 153 509 1
Low 1872 2486 1625 593 1257 433 3465 1813 1200 309 1227 1310 165 1050 2279 5 1
Below cutoff 1 85 74 1 11 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC136500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF038181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI492038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY682982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY900441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY925197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY925199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE047584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF112110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG548363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM271918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM713901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM975470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP230350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA313732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA777787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA795663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ317525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ320123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF026097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF028633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF125077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF432779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF575698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF575699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF575700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF575701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU681189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU681276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC085428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LT855224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M73548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG712911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH183199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH183200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW316829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK357120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM650683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S56365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S67789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U02508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U02509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z49090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z49221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000257430   ⟹   ENSP00000257430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,737,885 - 112,846,239 (+)Ensembl
RefSeq Acc Id: ENST00000502371   ⟹   ENSP00000484935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,754,891 - 112,839,871 (+)Ensembl
RefSeq Acc Id: ENST00000504915   ⟹   ENSP00000473355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,737,888 - 112,844,980 (+)Ensembl
RefSeq Acc Id: ENST00000505084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,737,888 - 112,830,953 (+)Ensembl
RefSeq Acc Id: ENST00000505350   ⟹   ENSP00000481752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,707,521 - 112,846,134 (+)Ensembl
RefSeq Acc Id: ENST00000507379   ⟹   ENSP00000423224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,707,522 - 112,844,126 (+)Ensembl
RefSeq Acc Id: ENST00000508376   ⟹   ENSP00000427089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,737,895 - 112,846,056 (+)Ensembl
RefSeq Acc Id: ENST00000508624   ⟹   ENSP00000424265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,737,885 - 112,842,755 (+)Ensembl
RefSeq Acc Id: ENST00000509732   ⟹   ENSP00000426541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,707,518 - 112,846,060 (+)Ensembl
RefSeq Acc Id: ENST00000512211   ⟹   ENSP00000423828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5112,738,128 - 112,844,980 (+)Ensembl
RefSeq Acc Id: NM_000038   ⟹   NP_000029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
GRCh375112,043,202 - 112,181,936 (+)ENTREZGENE
Build 365112,101,483 - 112,209,835 (+)NCBI Archive
HuRef5107,222,330 - 107,361,030 (+)ENTREZGENE
CHM1_15111,506,886 - 111,615,241 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127510   ⟹   NP_001120982
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
GRCh375112,043,202 - 112,181,936 (+)ENTREZGENE
HuRef5107,222,330 - 107,361,030 (+)ENTREZGENE
CHM1_15111,506,886 - 111,615,241 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127511   ⟹   NP_001120983
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
GRCh375112,043,202 - 112,181,936 (+)ENTREZGENE
HuRef5107,222,330 - 107,361,030 (+)ENTREZGENE
CHM1_15111,476,576 - 111,615,241 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354895   ⟹   NP_001341824
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354896   ⟹   NP_001341825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354897   ⟹   NP_001341826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354898   ⟹   NP_001341827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354899   ⟹   NP_001341828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354900   ⟹   NP_001341829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354901   ⟹   NP_001341830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354902   ⟹   NP_001341831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354903   ⟹   NP_001341832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354904   ⟹   NP_001341833
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354905   ⟹   NP_001341834
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354906   ⟹   NP_001341835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001407446   ⟹   NP_001394375
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407447   ⟹   NP_001394376
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407448   ⟹   NP_001394377
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407449   ⟹   NP_001394378
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407450   ⟹   NP_001394379
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407451   ⟹   NP_001394380
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407452   ⟹   NP_001394381
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407453   ⟹   NP_001394382
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407454   ⟹   NP_001394383
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407455   ⟹   NP_001394384
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407456   ⟹   NP_001394385
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407457   ⟹   NP_001394386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407458   ⟹   NP_001394387
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407459   ⟹   NP_001394388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407460   ⟹   NP_001394389
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407467   ⟹   NP_001394396
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407469   ⟹   NP_001394398
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407470   ⟹   NP_001394399
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407471   ⟹   NP_001394400
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,885 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,248,459 - 113,356,772 (+)NCBI
RefSeq Acc Id: NM_001407472   ⟹   NP_001394401
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NR_176365
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
RefSeq Acc Id: NR_176366
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,498 - 112,846,239 (+)NCBI
T2T-CHM13v2.05113,218,062 - 113,356,772 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000029 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120982 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120983 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341824 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341825 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341826 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341827 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341828 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341829 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341830 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341831 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341832 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341833 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341834 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341835 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394375 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394376 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394377 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394378 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394379 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394380 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394381 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394382 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394383 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394384 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394385 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394386 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394387 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394388 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394389 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394396 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394398 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394399 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394400 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394401 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA03586 (Get FASTA)   NCBI Sequence Viewer  
  AAA60353 (Get FASTA)   NCBI Sequence Viewer  
  AAA60354 (Get FASTA)   NCBI Sequence Viewer  
  AAB21145 (Get FASTA)   NCBI Sequence Viewer  
  AAD13997 (Get FASTA)   NCBI Sequence Viewer  
  AAD13998 (Get FASTA)   NCBI Sequence Viewer  
  AAD13999 (Get FASTA)   NCBI Sequence Viewer  
  AAD14918 (Get FASTA)   NCBI Sequence Viewer  
  AAF34355 (Get FASTA)   NCBI Sequence Viewer  
  AAG25599 (Get FASTA)   NCBI Sequence Viewer  
  AAH56268 (Get FASTA)   NCBI Sequence Viewer  
  AAT81590 (Get FASTA)   NCBI Sequence Viewer  
  AAW82777 (Get FASTA)   NCBI Sequence Viewer  
  AAX07544 (Get FASTA)   NCBI Sequence Viewer  
  AAX07546 (Get FASTA)   NCBI Sequence Viewer  
  ABC41553 (Get FASTA)   NCBI Sequence Viewer  
  ABL85064 (Get FASTA)   NCBI Sequence Viewer  
  ABL98125 (Get FASTA)   NCBI Sequence Viewer  
  ABL98126 (Get FASTA)   NCBI Sequence Viewer  
  ABQ09217 (Get FASTA)   NCBI Sequence Viewer  
  ABQ09218 (Get FASTA)   NCBI Sequence Viewer  
  ABQ09219 (Get FASTA)   NCBI Sequence Viewer  
  ABQ09220 (Get FASTA)   NCBI Sequence Viewer  
  ABQ57358 (Get FASTA)   NCBI Sequence Viewer  
  ABQ57359 (Get FASTA)   NCBI Sequence Viewer  
  ABQ57360 (Get FASTA)   NCBI Sequence Viewer  
  ABQ57361 (Get FASTA)   NCBI Sequence Viewer  
  ACD11098 (Get FASTA)   NCBI Sequence Viewer  
  ACD11100 (Get FASTA)   NCBI Sequence Viewer  
  ADO22506 (Get FASTA)   NCBI Sequence Viewer  
  AYC63265 (Get FASTA)   NCBI Sequence Viewer  
  BAE06083 (Get FASTA)   NCBI Sequence Viewer  
  BAF82256 (Get FASTA)   NCBI Sequence Viewer  
  BAH11802 (Get FASTA)   NCBI Sequence Viewer  
  BBA21111 (Get FASTA)   NCBI Sequence Viewer  
  BBA21112 (Get FASTA)   NCBI Sequence Viewer  
  CAA88912 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000257430
  ENSP00000257430.4
  ENSP00000423224
  ENSP00000423224.1
  ENSP00000423224.2
  ENSP00000423828.2
  ENSP00000423828.3
  ENSP00000424265.1
  ENSP00000426541
  ENSP00000426541.1
  ENSP00000426541.2
  ENSP00000427089
  ENSP00000427089.2
  ENSP00000473355
  ENSP00000473355.2
  ENSP00000481752.1
  ENSP00000484935.2
GenBank Protein P25054 (Get FASTA)   NCBI Sequence Viewer  
  SMR98733 (Get FASTA)   NCBI Sequence Viewer  
  SMR98734 (Get FASTA)   NCBI Sequence Viewer  
  SMR98735 (Get FASTA)   NCBI Sequence Viewer  
  SMR98736 (Get FASTA)   NCBI Sequence Viewer  
  SMR98737 (Get FASTA)   NCBI Sequence Viewer  
  SMR98738 (Get FASTA)   NCBI Sequence Viewer  
  SMR98739 (Get FASTA)   NCBI Sequence Viewer  
  SMR98740 (Get FASTA)   NCBI Sequence Viewer  
  SMR98741 (Get FASTA)   NCBI Sequence Viewer  
  SMR98742 (Get FASTA)   NCBI Sequence Viewer  
  SMR98743 (Get FASTA)   NCBI Sequence Viewer  
  SMR98744 (Get FASTA)   NCBI Sequence Viewer  
  SMR98745 (Get FASTA)   NCBI Sequence Viewer  
  SMR98746 (Get FASTA)   NCBI Sequence Viewer  
  SMR98749 (Get FASTA)   NCBI Sequence Viewer  
  SMR98750 (Get FASTA)   NCBI Sequence Viewer  
  SMR98751 (Get FASTA)   NCBI Sequence Viewer  
  SMR98752 (Get FASTA)   NCBI Sequence Viewer  
  SMR98753 (Get FASTA)   NCBI Sequence Viewer  
  SMR98754 (Get FASTA)   NCBI Sequence Viewer  
  SMR98755 (Get FASTA)   NCBI Sequence Viewer  
  SMR98756 (Get FASTA)   NCBI Sequence Viewer  
  SMR98757 (Get FASTA)   NCBI Sequence Viewer  
  SMR98758 (Get FASTA)   NCBI Sequence Viewer  
  SMR98759 (Get FASTA)   NCBI Sequence Viewer  
  SMR98760 (Get FASTA)   NCBI Sequence Viewer  
  SMR98761 (Get FASTA)   NCBI Sequence Viewer  
  SMR98762 (Get FASTA)   NCBI Sequence Viewer  
  SMR98763 (Get FASTA)   NCBI Sequence Viewer  
  SMR98764 (Get FASTA)   NCBI Sequence Viewer  
  SMR98765 (Get FASTA)   NCBI Sequence Viewer  
  SMR98766 (Get FASTA)   NCBI Sequence Viewer  
  SMR98767 (Get FASTA)   NCBI Sequence Viewer  
  UCR97782 (Get FASTA)   NCBI Sequence Viewer  
  UCR97783 (Get FASTA)   NCBI Sequence Viewer  
  UCR97784 (Get FASTA)   NCBI Sequence Viewer  
  UCR97785 (Get FASTA)   NCBI Sequence Viewer  
  UCR97786 (Get FASTA)   NCBI Sequence Viewer  
  UCR97787 (Get FASTA)   NCBI Sequence Viewer  
  UCR97788 (Get FASTA)   NCBI Sequence Viewer  
  UCR97789 (Get FASTA)   NCBI Sequence Viewer  
  UCR97790 (Get FASTA)   NCBI Sequence Viewer  
  UCR97791 (Get FASTA)   NCBI Sequence Viewer  
  UCR97792 (Get FASTA)   NCBI Sequence Viewer  
  UCR97793 (Get FASTA)   NCBI Sequence Viewer  
  UCR97794 (Get FASTA)   NCBI Sequence Viewer  
  UCR97795 (Get FASTA)   NCBI Sequence Viewer  
  UCR97796 (Get FASTA)   NCBI Sequence Viewer  
  UCR97797 (Get FASTA)   NCBI Sequence Viewer  
  UCR97798 (Get FASTA)   NCBI Sequence Viewer  
  UCR97799 (Get FASTA)   NCBI Sequence Viewer  
  UCR97800 (Get FASTA)   NCBI Sequence Viewer  
  UCR97801 (Get FASTA)   NCBI Sequence Viewer  
  UCR97802 (Get FASTA)   NCBI Sequence Viewer  
  UPP54493 (Get FASTA)   NCBI Sequence Viewer  
  UPP54494 (Get FASTA)   NCBI Sequence Viewer  
  UPP54495 (Get FASTA)   NCBI Sequence Viewer  
  UPP54496 (Get FASTA)   NCBI Sequence Viewer  
  UPP54497 (Get FASTA)   NCBI Sequence Viewer  
  UPP54498 (Get FASTA)   NCBI Sequence Viewer  
  UPP54499 (Get FASTA)   NCBI Sequence Viewer  
  UPP54500 (Get FASTA)   NCBI Sequence Viewer  
  UPP54501 (Get FASTA)   NCBI Sequence Viewer  
  UPP54502 (Get FASTA)   NCBI Sequence Viewer  
  UPP54503 (Get FASTA)   NCBI Sequence Viewer  
  UPP54504 (Get FASTA)   NCBI Sequence Viewer  
  UPP54505 (Get FASTA)   NCBI Sequence Viewer  
  UPP54506 (Get FASTA)   NCBI Sequence Viewer  
  UPP54507 (Get FASTA)   NCBI Sequence Viewer  
  UPP54508 (Get FASTA)   NCBI Sequence Viewer  
  UPP54509 (Get FASTA)   NCBI Sequence Viewer  
  UPP54510 (Get FASTA)   NCBI Sequence Viewer  
  UPP54511 (Get FASTA)   NCBI Sequence Viewer  
  UPP54512 (Get FASTA)   NCBI Sequence Viewer  
  UPP54513 (Get FASTA)   NCBI Sequence Viewer  
  UPP54514 (Get FASTA)   NCBI Sequence Viewer  
  UPP54515 (Get FASTA)   NCBI Sequence Viewer  
  UPP54516 (Get FASTA)   NCBI Sequence Viewer  
  UPP54517 (Get FASTA)   NCBI Sequence Viewer  
  UPP54518 (Get FASTA)   NCBI Sequence Viewer  
  UPP54519 (Get FASTA)   NCBI Sequence Viewer  
  UPP54520 (Get FASTA)   NCBI Sequence Viewer  
  UPP54521 (Get FASTA)   NCBI Sequence Viewer  
  UPP54522 (Get FASTA)   NCBI Sequence Viewer  
  WAK86306 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001120983   ⟸   NM_001127511
- Peptide Label: isoform a
- UniProtKB: A0A224AV41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120982   ⟸   NM_001127510
- Peptide Label: isoform b
- UniProtKB: Q15163 (UniProtKB/Swiss-Prot),   Q15162 (UniProtKB/Swiss-Prot),   D3DT03 (UniProtKB/Swiss-Prot),   B7Z2B6 (UniProtKB/Swiss-Prot),   Q93042 (UniProtKB/Swiss-Prot),   P25054 (UniProtKB/Swiss-Prot),   A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000029   ⟸   NM_000038
- Peptide Label: isoform b
- UniProtKB: Q15162 (UniProtKB/Swiss-Prot),   D3DT03 (UniProtKB/Swiss-Prot),   B7Z2B6 (UniProtKB/Swiss-Prot),   Q15163 (UniProtKB/Swiss-Prot),   Q93042 (UniProtKB/Swiss-Prot),   P25054 (UniProtKB/Swiss-Prot),   A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341824   ⟸   NM_001354895
- Peptide Label: isoform b
- UniProtKB: Q15163 (UniProtKB/Swiss-Prot),   Q15162 (UniProtKB/Swiss-Prot),   P25054 (UniProtKB/Swiss-Prot),   D3DT03 (UniProtKB/Swiss-Prot),   B7Z2B6 (UniProtKB/Swiss-Prot),   Q93042 (UniProtKB/Swiss-Prot),   A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341826   ⟸   NM_001354897
- Peptide Label: isoform d
- UniProtKB: A0A224AV41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341831   ⟸   NM_001354902
- Peptide Label: isoform i
- UniProtKB: A0A224AV41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341827   ⟸   NM_001354898
- Peptide Label: isoform e
- UniProtKB: A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341833   ⟸   NM_001354904
- Peptide Label: isoform k
- UniProtKB: A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341835   ⟸   NM_001354906
- Peptide Label: isoform m
- UniProtKB: A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341825   ⟸   NM_001354896
- Peptide Label: isoform c
- UniProtKB: R4GMU6 (UniProtKB/TrEMBL),   A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341832   ⟸   NM_001354903
- Peptide Label: isoform j
- UniProtKB: A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341828   ⟸   NM_001354899
- Peptide Label: isoform f
- UniProtKB: A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341829   ⟸   NM_001354900
- Peptide Label: isoform g
- UniProtKB: A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341830   ⟸   NM_001354901
- Peptide Label: isoform h
- UniProtKB: A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341834   ⟸   NM_001354905
- Peptide Label: isoform l
- UniProtKB: A0A224ANK2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000484935   ⟸   ENST00000502371
RefSeq Acc Id: ENSP00000473355   ⟸   ENST00000504915
RefSeq Acc Id: ENSP00000481752   ⟸   ENST00000505350
RefSeq Acc Id: ENSP00000257430   ⟸   ENST00000257430
RefSeq Acc Id: ENSP00000423224   ⟸   ENST00000507379
RefSeq Acc Id: ENSP00000427089   ⟸   ENST00000508376
RefSeq Acc Id: ENSP00000424265   ⟸   ENST00000508624
RefSeq Acc Id: ENSP00000426541   ⟸   ENST00000509732
RefSeq Acc Id: ENSP00000423828   ⟸   ENST00000512211
RefSeq Acc Id: NP_001394399   ⟸   NM_001407470
- Peptide Label: isoform m
RefSeq Acc Id: NP_001394401   ⟸   NM_001407472
- Peptide Label: isoform s
RefSeq Acc Id: NP_001394376   ⟸   NM_001407447
- Peptide Label: isoform c
- UniProtKB: R4GMU6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394385   ⟸   NM_001407456
- Peptide Label: isoform q
RefSeq Acc Id: NP_001394389   ⟸   NM_001407460
- Peptide Label: isoform j
RefSeq Acc Id: NP_001394381   ⟸   NM_001407452
- Peptide Label: isoform p
RefSeq Acc Id: NP_001394398   ⟸   NM_001407469
- Peptide Label: isoform r
RefSeq Acc Id: NP_001394375   ⟸   NM_001407446
- Peptide Label: isoform n
RefSeq Acc Id: NP_001394377   ⟸   NM_001407448
- Peptide Label: isoform c
- UniProtKB: R4GMU6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394379   ⟸   NM_001407450
- Peptide Label: isoform b
- UniProtKB: Q15163 (UniProtKB/Swiss-Prot),   Q15162 (UniProtKB/Swiss-Prot),   P25054 (UniProtKB/Swiss-Prot),   D3DT03 (UniProtKB/Swiss-Prot),   B7Z2B6 (UniProtKB/Swiss-Prot),   Q93042 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001394386   ⟸   NM_001407457
- Peptide Label: isoform q
RefSeq Acc Id: NP_001394387   ⟸   NM_001407458
- Peptide Label: isoform j
RefSeq Acc Id: NP_001394382   ⟸   NM_001407453
- Peptide Label: isoform h
RefSeq Acc Id: NP_001394378   ⟸   NM_001407449
- Peptide Label: isoform c
- UniProtKB: R4GMU6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394384   ⟸   NM_001407455
- Peptide Label: isoform q
RefSeq Acc Id: NP_001394388   ⟸   NM_001407459
- Peptide Label: isoform j
RefSeq Acc Id: NP_001394380   ⟸   NM_001407451
- Peptide Label: isoform o
RefSeq Acc Id: NP_001394400   ⟸   NM_001407471
- Peptide Label: isoform s
RefSeq Acc Id: NP_001394383   ⟸   NM_001407454
- Peptide Label: isoform q
RefSeq Acc Id: NP_001394396   ⟸   NM_001407467
- Peptide Label: isoform r
Protein Domains
Adenomatous polyposis coli N-terminal dimerisation   Adenomatous polyposis coli protein basic   EB-1 binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P25054-F1-model_v2 AlphaFold P25054 1-1400 view protein structure
AF-P25054-F2-model_v2 AlphaFold P25054 201-1600 view protein structure
AF-P25054-F3-model_v2 AlphaFold P25054 401-1800 view protein structure
AF-P25054-F4-model_v2 AlphaFold P25054 601-2000 view protein structure
AF-P25054-F5-model_v2 AlphaFold P25054 801-2200 view protein structure
AF-P25054-F6-model_v2 AlphaFold P25054 1001-2400 view protein structure
AF-P25054-F7-model_v2 AlphaFold P25054 1201-2600 view protein structure
AF-P25054-F8-model_v2 AlphaFold P25054 1401-2800 view protein structure
AF-P25054-F9-model_v2 AlphaFold P25054 1601-2843 view protein structure

Promoters
RGD ID:6803068
Promoter ID:HG_KWN:50825
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395617,   NM_000038,   NM_001127510,   UC010JBZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365112,101,199 - 112,101,699 (+)MPROMDB
RGD ID:6812663
Promoter ID:HG_ACW:64789
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:APCANDSRP19ANDZRSR1.VCAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 365112,203,121 - 112,203,621 (+)MPROMDB
RGD ID:6870268
Promoter ID:EPDNEW_H8299
Type:initiation region
Name:APC_2
Description:APC, WNT signaling pathway regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8300  EPDNEW_H8301  EPDNEW_H8302  EPDNEW_H8303  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,707,521 - 112,707,581EPDNEW
RGD ID:6870270
Promoter ID:EPDNEW_H8300
Type:initiation region
Name:APC_1
Description:APC, WNT signaling pathway regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8299  EPDNEW_H8301  EPDNEW_H8302  EPDNEW_H8303  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,737,888 - 112,737,948EPDNEW
RGD ID:6870272
Promoter ID:EPDNEW_H8301
Type:initiation region
Name:APC_4
Description:APC, WNT signaling pathway regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8299  EPDNEW_H8300  EPDNEW_H8302  EPDNEW_H8303  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,837,616 - 112,837,676EPDNEW
RGD ID:6870274
Promoter ID:EPDNEW_H8302
Type:initiation region
Name:APC_3
Description:APC, WNT signaling pathway regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8299  EPDNEW_H8300  EPDNEW_H8301  EPDNEW_H8303  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,840,030 - 112,840,090EPDNEW
RGD ID:6870276
Promoter ID:EPDNEW_H8303
Type:initiation region
Name:APC_5
Description:APC, WNT signaling pathway regulator
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8299  EPDNEW_H8300  EPDNEW_H8301  EPDNEW_H8302  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385112,841,269 - 112,841,329EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:583 AgrOrtholog
COSMIC APC COSMIC
Ensembl Genes ENSG00000134982 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000257430 ENTREZGENE
  ENST00000257430.9 UniProtKB/Swiss-Prot
  ENST00000502371.3 UniProtKB/TrEMBL
  ENST00000504915 ENTREZGENE
  ENST00000504915.3 UniProtKB/TrEMBL
  ENST00000505350 ENTREZGENE
  ENST00000505350.2 UniProtKB/TrEMBL
  ENST00000507379 ENTREZGENE
  ENST00000507379.5 UniProtKB/TrEMBL
  ENST00000507379.6 UniProtKB/Swiss-Prot
  ENST00000508376 ENTREZGENE
  ENST00000508376.6 UniProtKB/Swiss-Prot
  ENST00000508624.5 UniProtKB/TrEMBL
  ENST00000509732 ENTREZGENE
  ENST00000509732.5 UniProtKB/TrEMBL
  ENST00000509732.6 UniProtKB/Swiss-Prot
  ENST00000512211.6 UniProtKB/TrEMBL
  ENST00000512211.7 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helix hairpin bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134982 GTEx
HGNC ID HGNC:583 ENTREZGENE
Human Proteome Map APC Human Proteome Map
InterPro APC_15aa_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_basic_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Apc_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Armadillo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EB1-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:324 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 324 ENTREZGENE
OMIM 611731 OMIM
PANTHER PTHR12607 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12607:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam APC_15aa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_basic UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_N_CC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_r UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_rep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_u13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_u14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_u15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_u5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  APC_u9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Arm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Arm_APC_u3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EB1_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Suppressor_APC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24875 PharmGKB
PROSITE ARM_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ARM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF58050 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82931 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYF3_HUMAN UniProtKB/TrEMBL
  A0A087X2F3_HUMAN UniProtKB/TrEMBL
  A0A1Y6IM53_HUMAN UniProtKB/TrEMBL
  A0A1Y6IM71_HUMAN UniProtKB/TrEMBL
  A0A1Y6IM94_HUMAN UniProtKB/TrEMBL
  A0A1Y6IM95_HUMAN UniProtKB/TrEMBL
  A0A1Y6IPP8_HUMAN UniProtKB/TrEMBL
  A0A1Y6IQI2_HUMAN UniProtKB/TrEMBL
  A0A1Y6IQK5_HUMAN UniProtKB/TrEMBL
  A0A1Y6IRU6_HUMAN UniProtKB/TrEMBL
  A0A224ANK2 ENTREZGENE, UniProtKB/TrEMBL
  A0A224AV41 ENTREZGENE, UniProtKB/TrEMBL
  A0A2Q2SV78_HUMAN UniProtKB/TrEMBL
  A0A386AVV0_HUMAN UniProtKB/TrEMBL
  A1YIQ7_HUMAN UniProtKB/TrEMBL
  A1YIX6_HUMAN UniProtKB/TrEMBL
  A1YR11_HUMAN UniProtKB/TrEMBL
  A5HB94_HUMAN UniProtKB/TrEMBL
  A5HB95_HUMAN UniProtKB/TrEMBL
  A5HB96_HUMAN UniProtKB/TrEMBL
  A5HB97_HUMAN UniProtKB/TrEMBL
  A5JUM6_HUMAN UniProtKB/TrEMBL
  A5JUM7_HUMAN UniProtKB/TrEMBL
  A5JUM8_HUMAN UniProtKB/TrEMBL
  A5JUM9_HUMAN UniProtKB/TrEMBL
  APC_HUMAN UniProtKB/Swiss-Prot
  B7Z2B6 ENTREZGENE
  D3DT03 ENTREZGENE
  D6RFL6_HUMAN UniProtKB/TrEMBL
  E7EMH9_HUMAN UniProtKB/TrEMBL
  E9PFT7_HUMAN UniProtKB/TrEMBL
  P25054 ENTREZGENE
  Q15162 ENTREZGENE
  Q15163 ENTREZGENE
  Q16097_HUMAN UniProtKB/TrEMBL
  Q16098_HUMAN UniProtKB/TrEMBL
  Q4LE70_HUMAN UniProtKB/TrEMBL
  Q5EBR8_HUMAN UniProtKB/TrEMBL
  Q5EBR9_HUMAN UniProtKB/TrEMBL
  Q5EEK4_HUMAN UniProtKB/TrEMBL
  Q7Z2Q8_HUMAN UniProtKB/TrEMBL
  Q93042 ENTREZGENE
  Q9HAW6_HUMAN UniProtKB/TrEMBL
  Q9P119_HUMAN UniProtKB/TrEMBL
  Q9UM98_HUMAN UniProtKB/TrEMBL
  R4GMU6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B7Z2B6 UniProtKB/Swiss-Prot
  D3DT03 UniProtKB/Swiss-Prot
  Q15162 UniProtKB/Swiss-Prot
  Q15163 UniProtKB/Swiss-Prot
  Q93042 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 APC  APC regulator of WNT signaling pathway  APC  APC, WNT signaling pathway regulator  Symbol and/or name change 5135510 APPROVED
2016-06-28 APC  APC, WNT signaling pathway regulator  APC  WNT signaling pathway regulator  Symbol and/or name change 5135510 APPROVED
2016-06-21 APC  WNT signaling pathway regulator  APC  adenomatous polyposis coli  Symbol and/or name change 5135510 APPROVED