SMAD4 (SMAD family member 4) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: SMAD4 (SMAD family member 4) Homo sapiens
Analyze
Symbol: SMAD4
Name: SMAD family member 4
RGD ID: 1352527
HGNC Page HGNC:6770
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; SMAD binding activity; and transcription coregulator binding activity. Contributes to DNA binding activity and DNA-binding transcription factor activity. Involved in several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; positive regulation of transforming growth factor beta receptor signaling pathway; and regulation of gene expression. Acts upstream of or within negative regulation of canonical Wnt signaling pathway. Located in centrosome; cytosol; and nucleus. Part of SMAD protein complex; activin responsive factor complex; and chromatin. Implicated in several diseases, including female reproductive organ cancer (multiple); hereditary hemorrhagic telangiectasia; juvenile polyposis syndrome; juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome; and seminoma. Biomarker of several diseases, including carcinoma (multiple); colorectal adenoma; female reproductive organ cancer (multiple); metabolic dysfunction-associated steatohepatitis; and prostate carcinoma in situ.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deleted in pancreatic carcinoma locus 4; deletion target in pancreatic carcinoma 4; DPC4; hSMAD4; JIP; MAD homolog 4; MAD, mothers against decapentaplegic homolog 4; MADH4; mothers against decapentaplegic homolog 4; mothers against decapentaplegic, Drosophila, homolog of, 4; mothers against DPP homolog 4; MYHRS; SMAD 4; SMAD, mothers against DPP homolog 4; smad, mothers against dpp homolog 4 (drosophila)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381851,030,213 - 51,085,042 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1851,028,528 - 51,085,045 (+)EnsemblGRCh38hg38GRCh38
GRCh371848,556,583 - 48,611,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361846,810,611 - 46,860,145 (+)NCBINCBI36Build 36hg18NCBI36
Build 341846,810,610 - 46,860,144NCBI
Celera1845,413,367 - 45,468,195 (+)NCBICelera
Cytogenetic Map18q21.2NCBI
HuRef1845,411,927 - 45,466,923 (+)NCBIHuRef
CHM1_11848,551,997 - 48,606,836 (+)NCBICHM1_1
T2T-CHM13v2.01851,231,926 - 51,286,759 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acro-Osteolysis  (IAGP)
aortic disease  (IAGP)
brachydactyly  (EXP)
breast cancer  (IAGP)
Breast Neoplasms  (IAGP)
cervical cancer  (IEP)
cholangiocarcinoma  (EXP)
Chronic Hepatitis C  (IEP)
chronic myeloid leukemia  (IEP)
chronic obstructive pulmonary disease  (ISO)
Cicatrix  (ISO)
cognitive disorder  (EXP)
colon cancer  (IEP,ISO)
colon carcinoma  (IAGP)
colorectal adenoma  (IEP)
colorectal cancer  (IAGP)
colorectal carcinoma  (IEP)
Colorectal Neoplasms  (EXP,IAGP)
Craniofacial Abnormalities  (EXP)
Cronkhite-Canada syndrome  (IAGP)
Deafness  (EXP)
endometrial carcinoma  (IAGP,IEP)
esophageal carcinoma  (IAGP)
esophagus adenocarcinoma  (EXP)
Experimental Colitis  (ISO)
Experimental Liver Cirrhosis  (EXP,ISO)
gallbladder cancer  (IAGP)
Gallstones  (IEP)
gastric adenocarcinoma  (IAGP)
gastrointestinal system cancer  (IAGP)
Growth Mental Deficiency Syndrome of Myhre  (EXP,IAGP)
head and neck squamous cell carcinoma  (IAGP,ISO)
hemorrhagic disease  (IAGP)
hepatocellular carcinoma  (IEP,ISO)
hereditary hemorrhagic telangiectasia  (IAGP)
Hereditary Hemorrhagic Telangiectasia, Type 1  (IAGP)
Hereditary Neoplastic Syndromes  (IAGP)
Heterotopic Ossification  (ISO)
Human Viral Hepatitis  (IEP)
Hypoglossal Nerve Injuries  (ISO)
intellectual disability  (IAGP)
intrahepatic cholangiocarcinoma  (IEP)
invasive ductal carcinoma  (EXP)
juvenile polyposis syndrome  (EXP,IAGP,ISS)
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  (EXP,IAGP)
Liver Metastasis  (IAGP,IEP)
lung adenocarcinoma  (IAGP)
lung cancer  (IAGP)
Lymphatic Metastasis  (IEP)
Lynch syndrome  (IAGP)
metabolic dysfunction-associated steatohepatitis  (IEP,ISO)
Microphthalmia, Cataracts, and Iris Abnormalities  (ISO)
muscular disease  (EXP)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
Neoplasm Metastasis  (IAGP)
nephroblastoma  (IAGP)
Odontogenic Cysts  (ISO)
osteogenesis imperfecta  (ISS)
ovarian cancer  (IAGP,IEP)
pancreatic adenocarcinoma  (IAGP)
pancreatic cancer  (IAGP)
pancreatic carcinoma  (IAGP)
pancreatic ductal carcinoma  (IEP)
Parasitic Liver Diseases  (EXP)
pre-malignant neoplasm  (ISO)
primary pulmonary hypertension 1  (IAGP)
prostate adenocarcinoma  (IAGP)
prostate carcinoma in situ  (IEP)
Prostatic Neoplasms  (IEP)
prostatitis  (ISO)
Pulmonary Arterial Hypertension  (IAGP)
pulmonary fibrosis  (ISO)
pulmonary hypertension  (ISO)
renal cell carcinoma  (IEP)
seminoma  (IAGP)
stomach cancer  (IAGP)
Stomach Neoplasms  (EXP)
thoracic aortic aneurysm  (IAGP)
transitional cell carcinoma  (IEP)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (IEP)
Uterine Cervical Neoplasms  (IAGP)
vascular dementia  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(R,R,R)-alpha-tocopherol  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2,2-tetramine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-methoxyethanol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
acetaldehyde  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
amlodipine  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
bellidifolin  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
Candesartan cilexetil  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
chromium atom  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
D-glucose  (EXP,ISO)
DDE  (EXP)
deguelin  (EXP)
dexamethasone  (ISO)
dibenziodolium  (ISO)
Dibutyl phosphate  (EXP)
diclofenac  (EXP)
dimethyl sulfoxide  (EXP)
dorsomorphin  (EXP)
doxazosin  (EXP)
doxorubicin  (EXP,ISO)
enzyme inhibitor  (EXP)
ethanol  (EXP,ISO)
farrerol  (ISO)
fenofibrate  (EXP)
folic acid  (ISO)
galangin  (EXP)
gallic acid  (EXP)
gentamycin  (ISO)
glucose  (EXP,ISO)
glycerol 2-phosphate  (ISO)
glycyrrhizinic acid  (EXP)
glyphosate  (EXP)
icariin  (ISO)
Isoangustone A  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (ISO)
leptomycin B  (ISO)
lipopolysaccharide  (EXP)
Methylazoxymethanol acetate  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
monosodium L-glutamate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nitric oxide  (ISO)
nitrofen  (ISO)
osthole  (EXP)
ouabain  (EXP)
paracetamol  (EXP,ISO)
patulin  (ISO)
pentacarbonyliron  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
phosphane  (ISO)
picoxystrobin  (EXP)
platycodin D  (EXP)
progesterone  (ISO)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
rolipram  (EXP)
rotenone  (ISO)
rutin  (ISO)
SB 431542  (EXP,ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (EXP,ISO)
tamibarotene  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
theobromine  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vanadyl sulfate  (EXP)
vincristine  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (NAS)
adrenal gland development  (IEA,ISO)
anatomical structure morphogenesis  (IBA,IEA,ISO)
anterior/posterior pattern specification  (IEA,ISO)
atrioventricular canal development  (IEA,ISS)
atrioventricular valve formation  (IEA,ISS)
axon guidance  (IEA,ISO)
BMP signaling pathway  (IBA,IDA,IEA,IGI,IMP,ISS)
brainstem development  (IEA,ISO)
branching involved in ureteric bud morphogenesis  (IEA,ISO)
cardiac conduction system development  (NAS)
cardiac muscle hypertrophy in response to stress  (IEA,ISO)
cardiac septum development  (IEA)
cell differentiation  (IBA,IEA,ISO)
cell population proliferation  (IEA,ISO)
cellular response to BMP stimulus  (NAS)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IMP)
developmental growth  (IEA,ISO)
DNA-templated transcription  (IDA,NAS)
embryonic digit morphogenesis  (IEA)
endocardial cell differentiation  (IEA,ISS)
endoderm development  (IEA,ISO)
endothelial cell activation  (IEA)
epithelial cell migration  (IMP)
epithelial to mesenchymal transition  (IGI,IMP)
epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA)
ERK1 and ERK2 cascade  (IEA,ISO)
extrinsic apoptotic signaling pathway  (IMP)
female gonad development  (IEA,ISO)
female gonad morphogenesis  (IEA,ISO)
formation of anatomical boundary  (IEA,ISO)
gastrulation  (IEA,ISO)
gastrulation with mouth forming second  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
interleukin-6-mediated signaling pathway  (IEA,ISS)
intracellular iron ion homeostasis  (IEA,ISS)
intracellular signal transduction  (IMP)
kidney development  (IEA,ISO)
left ventricular cardiac muscle tissue morphogenesis  (IEA,ISS)
male gonad development  (IEA,ISO)
mesendoderm development  (IEA,ISO)
mesoderm development  (IEA,ISO)
metanephric mesenchyme morphogenesis  (IEA)
negative regulation of canonical Wnt signaling pathway  (IMP)
negative regulation of cardiac muscle hypertrophy  (IEA,ISS)
negative regulation of cardiac myofibril assembly  (IEA,ISS)
negative regulation of cell growth  (IDA)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of DNA-templated transcription  (IDA)
negative regulation of ERK1 and ERK2 cascade  (IEA,ISS)
negative regulation of protein catabolic process  (IEA)
negative regulation of transcription by RNA polymerase II  (IEA,ISO,ISS)
nephrogenic mesenchyme morphogenesis  (IEA)
neural crest cell differentiation  (IEA,ISO)
neuron fate commitment  (IEA,ISO)
neuron fate specification  (IMP)
osteoblast differentiation  (IEA,ISO)
outflow tract septum morphogenesis  (IEA,ISS)
ovarian follicle development  (IEA,ISO)
positive regulation of cardiac muscle cell apoptotic process  (IEA,ISO)
positive regulation of cell proliferation involved in heart valve morphogenesis  (IEA,ISS)
positive regulation of DNA-templated transcription  (IDA,IEA,ISO)
positive regulation of epithelial to mesenchymal transition  (IEA,ISS)
positive regulation of extracellular matrix assembly  (IMP)
positive regulation of follicle-stimulating hormone secretion  (IEA,ISO)
positive regulation of gene expression  (IMP)
positive regulation of luteinizing hormone secretion  (IEA,ISO)
positive regulation of miRNA transcription  (IEA)
positive regulation of SMAD protein signal transduction  (IEA,ISS)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISO,ISS,TAS)
positive regulation of transforming growth factor beta receptor signaling pathway  (IDA)
regulation of cell population proliferation  (IEA,ISO)
regulation of DNA-templated transcription  (IEA,NAS)
regulation of gene expression  (IEA)
regulation of hair follicle development  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
regulation of transforming growth factor beta2 production  (IMP)
response to hypoxia  (IMP)
response to transforming growth factor beta  (IDA)
sebaceous gland development  (IEA,ISO)
secondary palate development  (IEA,ISS)
seminiferous tubule development  (IEA,ISO)
single fertilization  (IEA,ISO)
SMAD protein signal transduction  (IBA,IDA,IEA,IMP,ISO,ISS)
somite rostral/caudal axis specification  (IEA,ISO)
spermatogenesis  (IEA,ISO)
tissue morphogenesis  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA,IGI,IMP,ISO,ISS,NAS)
uterus development  (IEA,ISO)
ventricular septum morphogenesis  (IEA,ISS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-3 toe syndactyly  (IAGP)
Abdominal aortic aneurysm  (IAGP)
Abdominal pain  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system physiology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal epiphysis morphology  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal lip morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal penis morphology  (IAGP)
Abnormal pubic bone morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of connective tissue  (IAGP)
Abnormality of the voice  (IAGP)
Adenomatous colonic polyposis  (IAGP)
Amblyopia  (IAGP)
Anemia  (IAGP)
Anemic pallor  (IAGP)
Anorexia  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Aortic valve stenosis  (IAGP)
Arachnodactyly  (IAGP)
Arteriovenous malformation  (IAGP)
Ascending aortic dissection  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Back pain  (IAGP)
Bicuspid aortic valve  (IAGP)
Bifid uvula  (IAGP)
Birth length less than 3rd percentile  (IAGP)
Blepharophimosis  (IAGP)
Brachydactyly  (IAGP)
Breast carcinoma  (IAGP)
Broad ribs  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly  (IAGP)
Cardiomegaly  (IAGP)
Carotid artery dilatation  (IAGP)
Cataract  (IAGP)
Cavernous hemangioma  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Childhood onset  (IAGP)
Cholecystitis  (IAGP)
Cholelithiasis  (IAGP)
Chronic fatigue  (IAGP)
Cirrhosis  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Clubbing  (IAGP)
Coarctation of aorta  (IAGP)
Colon cancer  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congestive heart failure  (IAGP)
Conjunctival telangiectasia  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Craniofacial hyperostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutis marmorata  (IAGP)
Deeply set eye  (IAGP)
Delayed skeletal maturation  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Diabetes mellitus  (IAGP)
Diarrhea  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Duodenal adenocarcinoma  (IAGP)
Duodenal polyposis  (IAGP)
Duodenal stenosis  (IAGP)
Dural ectasia  (IAGP)
Edema  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
EMG abnormality  (IAGP)
Enlarged vertebral pedicles  (IAGP)
Epispadias  (IAGP)
Epistaxis  (IAGP)
Esophageal carcinoma  (IAGP)
Esophageal varix  (IAGP)
Exertional dyspnea  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
External genital hypoplasia  (IAGP)
Extrahepatic cholestasis  (IAGP)
Failure to thrive  (IAGP)
Femoral hernia  (IAGP)
Fine hair  (IAGP)
Functional intestinal obstruction  (IAGP)
Gastric adenocarcinoma  (IAGP)
Gastrointestinal arteriovenous malformation  (IAGP)
Gastrointestinal carcinoma  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Generalized muscle hypertrophy  (IAGP)
Gingival cleft  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hamartomatous polyposis  (IAGP)
Hearing impairment  (IAGP)
Hematochezia  (IAGP)
Hematuria  (IAGP)
Hemoptysis  (IAGP)
Hepatic arteriovenous malformation  (IAGP)
Hepatic failure  (IAGP)
Hepatosplenomegaly  (IAGP)
High hypermetropia  (IAGP)
High, narrow palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperactivity  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertonia  (IAGP)
Hypoalbuminemia  (IAGP)
Hypogonadism  (IAGP)
Hypokalemia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypospadias  (IAGP)
Hypovolemia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intermittent diarrhea  (IAGP)
Intestinal polyposis  (IAGP)
Intestinal pseudo-obstruction  (IAGP)
Intrauterine growth retardation  (IAGP)
Intussusception  (IAGP)
Ischemic stroke  (IAGP)
Jaundice  (IAGP)
Joint stiffness  (IAGP)
Juvenile gastrointestinal polyposis  (IAGP)
Keratosis pilaris  (IAGP)
Kyphosis  (IAGP)
Large iliac wing  (IAGP)
Laryngotracheal stenosis  (IAGP)
Limitation of joint mobility  (IAGP)
Lip telangiectasia  (IAGP)
Long eyelashes  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (IAGP)
Lung adenocarcinoma  (IAGP)
Lymphadenopathy  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Melanoma  (IAGP)
Microcephaly  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Mucosal telangiectasiae  (IAGP)
Multiple gastric polyps  (IAGP)
Narrow mouth  (IAGP)
Narrow palpebral fissure  (IAGP)
Nasal mucosa telangiectasia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the large intestine  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the stomach  (IAGP)
Nephroblastoma  (IAGP)
Nephrolithiasis  (IAGP)
Neurodevelopmental delay  (IAGP)
Obesity  (IAGP)
Ovarian carcinoma  (IAGP)
Overlapping toe  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Paroxysmal dyspnea  (IAGP)
Patent ductus arteriosus  (IAGP)
Pericardial effusion  (IAGP)
Peripheral arterial stenosis  (IAGP)
Peripheral arteriovenous fistula  (IAGP)
Peritoneal abscess  (IAGP)
Pes planus  (IAGP)
Platyspondyly  (IAGP)
Pneumothorax  (IAGP)
Poor appetite  (IAGP)
Portal hypertension  (IAGP)
Precocious puberty  (IAGP)
Pregnancy history  (IAGP)
Prominent nasal bridge  (IAGP)
Psychosis  (IAGP)
Ptosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary arteriovenous malformation  (IAGP)
Pulmonary embolism  (IAGP)
Pulmonic stenosis  (IAGP)
Radial deviation of finger  (IAGP)
Rectal polyposis  (IAGP)
Rectal prolapse  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal telangiectasia  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe short stature  (IAGP)
Short finger  (IAGP)
Short foot  (IAGP)
Short long bone  (IAGP)
Short neck  (IAGP)
Short palm  (IAGP)
Short palpebral fissure  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Small earlobe  (IAGP)
Small for gestational age  (IAGP)
Small intestinal polyposis  (IAGP)
Sparse hair  (IAGP)
Specific learning disability  (IAGP)
Speech articulation difficulties  (IAGP)
Spontaneous hematomas  (IAGP)
Stiff skin  (IAGP)
Stomach cancer  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Submucous cleft hard palate  (IAGP)
Tall stature  (IAGP)
Telangiectasia  (IAGP)
Telangiectasia of the skin  (IAGP)
Thick eyebrow  (IAGP)
Thickened calvaria  (IAGP)
Thickened skin  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Tongue telangiectasia  (IAGP)
Transient ischemic attack  (IAGP)
Unilateral cleft lip  (IAGP)
Velopharyngeal insufficiency  (IAGP)
Venous thrombosis  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral fusion  (IAGP)
Visceral angiomatosis  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Andrabi S, etal., Am J Med Genet A. 2011 May;155A(5):1165-9. doi: 10.1002/ajmg.a.33968. Epub 2011 Apr 4.
2. Genotype-defined cancer risk in juvenile polyposis syndrome. Aytac E, etal., Br J Surg. 2015 Jan;102(1):114-8. doi: 10.1002/bjs.9693. Epub 2014 Nov 12.
3. Smad4 loss in mice causes spontaneous head and neck cancer with increased genomic instability and inflammation. Bornstein S, etal., J Clin Invest. 2009 Nov;119(11):3408-19. doi: 10.1172/JCI38854. Epub 2009 Oct 19.
4. A novel SMAD4 gene mutation in seminoma germ cell tumors. Bouras M, etal., Cancer Res. 2000 Feb 15;60(4):922-8.
5. Transforming growth factor-beta pathway in human renal cell carcinoma and surrounding normal-appearing renal parenchyma. Cardillo MR, etal., Anal Quant Cytol Histol. 2001 Apr;23(2):109-17.
6. [Effect of Budesonide on Smad4, PDGF-A and PAI-1 in a rat model of pulmonary fibrosis]. Chen JP, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2012 May;28(5):478-80.
7. Emodin protects rat liver from CCl(4)-induced fibrogenesis via inhibition of hepatic stellate cells activation. Dong MX, etal., World J Gastroenterol. 2009 Oct 14;15(38):4753-62.
8. [Effect of schisandrin B on lung mRNA expression of transforming growth factor-beta1 signal transduction molecule in rat lungs exposed to silica]. Fan LH, etal., Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2011 Apr;29(4):255-9.
9. Zhonghua zhong liu za zhi [Chinese journal of oncology] Fan Z, etal., Zhonghua Zhong Liu Za Zhi. 2001 Mar;23(2):135-7.
10. Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Gallione C, etal., Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206.
11. SMAD4 mutations found in unselected HHT patients. Gallione CJ, etal., J Med Genet. 2006 Oct;43(10):793-7. Epub 2006 Apr 13.
12. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Gallione CJ, etal., Lancet. 2004 Mar 13;363(9412):852-9.
13. Disruption of Smad4 in odontoblasts causes multiple keratocystic odontogenic tumors and tooth malformation in mice. Gao Y, etal., Mol Cell Biol. 2009 Nov;29(21):5941-51. doi: 10.1128/MCB.00706-09. Epub 2009 Aug 24.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Hahn SA, etal., Science 1996 Jan 19;271(5247):350-3.
16. Interaction between angiotensin II and Smad proteins in fibroblasts in failing heart and in vitro. Hao J, etal., Am J Physiol Heart Circ Physiol. 2000 Dec;279(6):H3020-30.
17. Tumor suppression effects of bilberry extracts and enzymatically modified isoquercitrin in early preneoplastic liver cell lesions induced by piperonyl butoxide promotion in a two-stage rat hepatocarcinogenesis model. Hara S, etal., Exp Toxicol Pathol. 2014 Aug;66(5-6):225-34. doi: 10.1016/j.etp.2014.02.002. Epub 2014 Mar 26.
18. Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4. Heald B, etal., Am J Med Genet A. 2015 Aug;167A(8):1758-62. doi: 10.1002/ajmg.a.37093. Epub 2015 Apr 30.
19. Loss of BMP2, Smad8, and Smad4 expression in prostate cancer progression. Horvath LG, etal., Prostate. 2004 May 15;59(3):234-42.
20. Common deletion of SMAD4 in juvenile polyposis is a mutational hotspot. Howe JR, etal., Am J Hum Genet. 2002 May;70(5):1357-62. Epub 2002 Mar 27.
21. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Howe JR, etal., Science. 1998 May 15;280(5366):1086-8.
22. [Changes in TGF-beta1/Smads signaling pathway in rats with chemical hepatocarcinogenesis]. Hua YP, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2008 Oct;28(10):1848-52.
23. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Jones S, etal., Science. 2008 Sep 26;321(5897):1801-6. Epub 2008 Sep 4.
24. SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy. Lamireau T, etal., J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):117-20.
25. Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Le Goff C, etal., Nat Genet. 2011 Dec 11;44(1):85-8. doi: 10.1038/ng.1016.
26. Expression of DPC4/Smad4 gene in stone-containing intrahepatic bile duct. Lee KT, etal., J Surg Oncol. 2006 Sep 15;94(4):338-43. doi: 10.1002/jso.20517.
27. cAMP inhibits transforming growth factor-beta-stimulated collagen synthesis via inhibition of extracellular signal-regulated kinase 1/2 and Smad signaling in cardiac fibroblasts. Liu X, etal., Mol Pharmacol. 2006 Dec;70(6):1992-2003. Epub 2006 Sep 7.
28. Inactivation of Smad4 leads to impaired ocular development and cataract formation. Liu Y, etal., Biochem Biophys Res Commun. 2010 Oct 1;400(4):476-82. doi: 10.1016/j.bbrc.2010.08.065. Epub 2010 Aug 22.
29. Loss of Smad4 expression predicts liver metastasis in human colorectal cancer. Losi L, etal., Oncol Rep. 2007 May;17(5):1095-9.
30. Effects of platycodins on liver complications of type 2 diabetes. Luan H, etal., Mol Med Rep. 2014 Sep;10(3):1597-603. doi: 10.3892/mmr.2014.2363. Epub 2014 Jul 4.
31. Downregulation of secretory leukocyte proteinase inhibitor in chronic obstructive lung disease: the role of TGF-beta/Smads signaling pathways. Luo BL, etal., Arch Med Res. 2008 May;39(4):388-96. doi: 10.1016/j.arcmed.2008.02.002.
32. Loss of expression, and mutations of Smad 2 and Smad 4 in human cervical cancer. Maliekal TT, etal., Oncogene. 2003 Jul 31;22(31):4889-97.
33. TGFbeta in Cancer. Massagué J, Cell. 2008 Jul 25;134(2):215-30. doi: 10.1016/j.cell.2008.07.001.
34. KAI1, CAR, and Smad4 expression in the progression of colorectal tumor. Mikami T, etal., J Gastroenterol. 2001 Jul;36(7):465-9. doi: 10.1007/s005350170069.
35. Higher frequency of Smad4 gene mutation in human colorectal cancer with distant metastasis. Miyaki M, etal., Oncogene. 1999 May 20;18(20):3098-103. doi: 10.1038/sj.onc.1202642.
36. SMAD4 gene mutation predicts poor prognosis in patients undergoing resection for colorectal liver metastases. Mizuno T, etal., Eur J Surg Oncol. 2018 May;44(5):684-692. doi: 10.1016/j.ejso.2018.02.247. Epub 2018 Mar 7.
37. Dysregulated bone morphogenetic protein signaling in monocrotaline-induced pulmonary arterial hypertension. Morty RE, etal., Arterioscler Thromb Vasc Biol. 2007 May;27(5):1072-8. Epub 2007 Mar 8.
38. Significance of pSmad2/3 and Smad4 in hepatitis C virus-related liver fibrosis and hepatocellular carcinoma. Moussa MM, etal., APMIS. 2018 Jun;126(6):477-485. doi: 10.1111/apm.12844.
39. Altered expression of Smad family members in injured motor neurons of rat. Okuyama N, etal., Brain Res. 2007 Feb 9;1132(1):36-41. Epub 2006 Dec 12.
40. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
41. TGF-beta signaling is disrupted in endometrioid-type endometrial carcinomas. Piestrzeniewicz-Ulanska D, etal., Gynecol Oncol. 2004 Oct;95(1):173-80.
42. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
43. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
44. Deletion of Smad4 reduces hepatic inflammation and fibrogenesis during nonalcoholic steatohepatitis progression. Qin G, etal., J Dig Dis. 2018 May;19(5):301-313. doi: 10.1111/1751-2980.12599. Epub 2018 Jun 6.
45. Smad signaling in the rat model of monocrotaline pulmonary hypertension. Ramos MF, etal., Toxicol Pathol. 2008 Feb;36(2):311-20. doi: 10.1177/0192623307311402. Epub 2008 Mar 26.
46. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
47. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
48. Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal. Roth S, etal., J Med Genet. 2000 Apr;37(4):298-300.
49. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
50. Oncopreventive effects of theanine and theobromine on dimethylhydrazine-induced colon cancer model. Shojaei-Zarghani S, etal., Biomed Pharmacother. 2021 Feb;134:111140. doi: 10.1016/j.biopha.2020.111140. Epub 2020 Dec 24.
51. Association between Altered Expression and Genetic Variations of Transforming Growth Factor ß-Smad Pathway with Chronic Myeloid Leukemia. Shokeen Y, etal., Int J Hematol Oncol Stem Cell Res. 2018 Jan 1;12(1):14-22.
52. Expression profiling identifies altered expression of genes that contribute to the inhibition of transforming growth factor-beta signaling in ovarian cancer. Sunde JS, etal., Cancer Res. 2006 Sep 1;66(17):8404-12.
53. SMAD4 haploinsufficiency associates with augmented colonic inflammation in select humans and mice. Szigeti R, etal., Ann Clin Lab Sci. 2012 Fall;42(4):401-8.
54. Biologically different subgroups of invasive ductal carcinoma of the pancreas: Dpc4 status according to the ratio of intraductal carcinoma components. Takahashi H, etal., Clin Cancer Res. 2004 Jun 1;10(11):3772-9. doi: 10.1158/1078-0432.CCR-03-0120.
55. Allelic imbalance in chromosome band 18q21 and SMAD4 mutations in ovarian cancers. Takakura S, etal., Genes Chromosomes Cancer. 1999 Mar;24(3):264-71.
56. Inhibiting scar formation in vitro and in vivo by adenovirus-mediated mutant Smad4: a preliminary report. Tan WQ, etal., Exp Dermatol. 2011 Feb;20(2):119-24. doi: 10.1111/j.1600-0625.2010.01186.x.
57. [Smad4 and TGF-beta1 expression and clinical significance in bladder transitional cell carcinoma] Tang ZY, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2006 Jun;31(3):363-6.
58. MicroRNA-224 targets SMAD family member 4 to promote cell proliferation and negatively influence patient survival. Wang Y, etal., PLoS One. 2013 Jul 29;8(7):e68744. doi: 10.1371/journal.pone.0068744. Print 2013.
59. [Expressions of transforming growth factor-beta(1) and Smad4 in rat models of chronic nonbacterial prostatitis and their clinical significance]. Wang YM, etal., Zhonghua Nan Ke Xue. 2010 Jun;16(6):490-4.
60. Treatment with cardiotonic pills(®) after ischemia-reperfusion ameliorates myocardial fibrosis in rats. Wei XH, etal., Microcirculation. 2013 Jan;20(1):17-29. doi: 10.1111/micc.12002.
61. Targeting RICTOR Sensitizes SMAD4-Negative Colon Cancer to Irinotecan. Wong CK, etal., Mol Cancer Res. 2020 Mar;18(3):414-423. doi: 10.1158/1541-7786.MCR-19-0525. Epub 2020 Jan 13.
62. Pancreatic cancer: molecular pathogenesis and new therapeutic targets. Wong HH and Lemoine NR, Nat Rev Gastroenterol Hepatol. 2009 Jul;6(7):412-22. Epub 2009 Jun 9.
63. Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. Woodford-Richens KL, etal., Am J Pathol. 2001 Oct;159(4):1293-300.
64. Alterations of Smad signaling in human breast carcinoma are associated with poor outcome: a tissue microarray study. Xie W, etal., Cancer Res. 2002 Jan 15;62(2):497-505.
65. TGF-beta signaling alterations and susceptibility to colorectal cancer. Xu Y and Pasche B, Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R14-20.
66. Non-virus-mediated transfer of siRNAs against Runx2 and Smad4 inhibit heterotopic ossification in rats. Xue T, etal., Gene Ther. 2010 Mar;17(3):370-9. doi: 10.1038/gt.2009.154. Epub 2009 Nov 26.
67. Reduced Expression of SMAD4 Is Associated with Poor Survival in Colon Cancer. Yan P, etal., Clin Cancer Res. 2016 Jun 15;22(12):3037-47. doi: 10.1158/1078-0432.CCR-15-0939. Epub 2016 Feb 9.
68. Inactivation of Smad4 is a prognostic factor in intrahepatic cholangiocarcinoma. Yan XQ, etal., Chin Med J (Engl). 2013 Aug;126(16):3039-43.
69. Smad4 expression in hepatocellular carcinoma differs by hepatitis status. Yao L, etal., Asian Pac J Cancer Prev. 2012;13(4):1297-303. doi: 10.7314/apjcp.2012.13.4.1297.
70. Apoptosis incidence and protein expression of p53, TGF-beta receptor II, p27Kip1, and Smad4 in benign, premalignant, and malignant human prostate. Zeng L, etal., Hum Pathol. 2004 Mar;35(3):290-7.
71. Involvement of mutations in the DPC4 promoter in endometrial carcinoma development. Zhou Y, etal., Mol Carcinog. 1999 May;25(1):64-72.
Additional References at PubMed
PMID:7958924   PMID:7958925   PMID:8564959   PMID:8637600   PMID:8653691   PMID:8774881   PMID:8861901   PMID:8889548   PMID:9098646   PMID:9111321   PMID:9214508   PMID:9256479  
PMID:9285560   PMID:9288972   PMID:9311995   PMID:9389648   PMID:9436979   PMID:9482899   PMID:9660945   PMID:9679056   PMID:9707553   PMID:9732876   PMID:9741623   PMID:9759503  
PMID:9811934   PMID:9843199   PMID:9843571   PMID:9892009   PMID:10085121   PMID:10085140   PMID:10092624   PMID:10199400   PMID:10220381   PMID:10224145   PMID:10398437   PMID:10400705  
PMID:10531062   PMID:10531362   PMID:10549282   PMID:10557285   PMID:10575014   PMID:10583507   PMID:10636916   PMID:10647180   PMID:10647776   PMID:10660046   PMID:10708948   PMID:10708949  
PMID:10781087   PMID:10823886   PMID:10846168   PMID:10871368   PMID:10878024   PMID:10887155   PMID:10890911   PMID:10896788   PMID:10942775   PMID:10980615   PMID:10995777   PMID:11027280  
PMID:11042172   PMID:11094085   PMID:11102446   PMID:11114293   PMID:11121043   PMID:11160896   PMID:11163184   PMID:11224571   PMID:11264182   PMID:11265759   PMID:11274206   PMID:11278302  
PMID:11278756   PMID:11387330   PMID:11401430   PMID:11432852   PMID:11555647   PMID:11571638   PMID:11700304   PMID:11741830   PMID:11779503   PMID:11779505   PMID:11783110   PMID:11818334  
PMID:11836524   PMID:11866987   PMID:11927552   PMID:12000714   PMID:12010891   PMID:12023040   PMID:12077092   PMID:12097320   PMID:12099698   PMID:12116240   PMID:12136244   PMID:12150994  
PMID:12161428   PMID:12167862   PMID:12191474   PMID:12202226   PMID:12202987   PMID:12209716   PMID:12226080   PMID:12370310   PMID:12374795   PMID:12411310   PMID:12414627   PMID:12417513  
PMID:12419246   PMID:12429655   PMID:12477932   PMID:12483531   PMID:12524424   PMID:12531695   PMID:12543979   PMID:12548549   PMID:12551947   PMID:12569386   PMID:12576474   PMID:12618756  
PMID:12621041   PMID:12631740   PMID:12650946   PMID:12700666   PMID:12720172   PMID:12732634   PMID:12740389   PMID:12758167   PMID:12764135   PMID:12794086   PMID:12801888   PMID:12802277  
PMID:12808092   PMID:12813045   PMID:12815042   PMID:12857746   PMID:12874272   PMID:12904571   PMID:12917407   PMID:12952364   PMID:14514699   PMID:14525983   PMID:14555988   PMID:14607700  
PMID:14612411   PMID:14612423   PMID:14612439   PMID:14630787   PMID:14630914   PMID:14633973   PMID:14639103   PMID:14647410   PMID:14647445   PMID:14669329   PMID:14671321   PMID:14687659  
PMID:14691252   PMID:14699069   PMID:14701756   PMID:14715079   PMID:14727154   PMID:14729983   PMID:14766211   PMID:14966294   PMID:14988407   PMID:14993265   PMID:15014009   PMID:15028714  
PMID:15033661   PMID:15063137   PMID:15069531   PMID:15084259   PMID:15107966   PMID:15150278   PMID:15157044   PMID:15166010   PMID:15231748   PMID:15235019   PMID:15240101   PMID:15280432  
PMID:15314162   PMID:15350224   PMID:15359284   PMID:15367885   PMID:15467747   PMID:15489334   PMID:15531914   PMID:15561701   PMID:15588252   PMID:15592428   PMID:15592526   PMID:15621726  
PMID:15637079   PMID:15708501   PMID:15735739   PMID:15736060   PMID:15761153   PMID:15781469   PMID:15799969   PMID:15814640   PMID:15817471   PMID:15820681   PMID:15846069   PMID:15849193  
PMID:15855639   PMID:15867212   PMID:15881652   PMID:15886208   PMID:15922743   PMID:15940269   PMID:16007207   PMID:16007227   PMID:16009940   PMID:16082587   PMID:16135802   PMID:16146757  
PMID:16172383   PMID:16189514   PMID:16223572   PMID:16288847   PMID:16322555   PMID:16344560   PMID:16362038   PMID:16436638   PMID:16478646   PMID:16516194   PMID:16627986   PMID:16714330  
PMID:16751102   PMID:16754688   PMID:16777850   PMID:16865698   PMID:16916642   PMID:16953227   PMID:16959612   PMID:17016646   PMID:17023741   PMID:17043799   PMID:17053951   PMID:17099224  
PMID:17132729   PMID:17151782   PMID:17167985   PMID:17183365   PMID:17190602   PMID:17200344   PMID:17251190   PMID:17283070   PMID:17301079   PMID:17353364   PMID:17436386   PMID:17438144  
PMID:17469085   PMID:17469184   PMID:17476473   PMID:17478078   PMID:17583730   PMID:17591695   PMID:17591701   PMID:17643425   PMID:17659731   PMID:17847004   PMID:17854080   PMID:17873119  
PMID:17875924   PMID:17994767   PMID:17997817   PMID:18029348   PMID:18055455   PMID:18178612   PMID:18213629   PMID:18215124   PMID:18310076   PMID:18310088   PMID:18321803   PMID:18413775  
PMID:18425078   PMID:18471510   PMID:18505344   PMID:18511908   PMID:18519565   PMID:18519681   PMID:18568018   PMID:18620728   PMID:18664273   PMID:18729074   PMID:18783722   PMID:18823382  
PMID:18832382   PMID:18949401   PMID:18985820   PMID:19032343   PMID:19064568   PMID:19135894   PMID:19139564   PMID:19144825   PMID:19183329   PMID:19211612   PMID:19247629   PMID:19266212  
PMID:19270646   PMID:19270816   PMID:19273710   PMID:19274049   PMID:19284991   PMID:19321257   PMID:19328798   PMID:19341727   PMID:19351817   PMID:19366699   PMID:19419955   PMID:19420158  
PMID:19453261   PMID:19463221   PMID:19527492   PMID:19528490   PMID:19538865   PMID:19548527   PMID:19558215   PMID:19584151   PMID:19624886   PMID:19626374   PMID:19686287   PMID:19688145  
PMID:19690946   PMID:19730683   PMID:19752858   PMID:19768112   PMID:19834456   PMID:19856310   PMID:19913121   PMID:19916025   PMID:19917253   PMID:19996292   PMID:20012971   PMID:20097766  
PMID:20118412   PMID:20142324   PMID:20165854   PMID:20200332   PMID:20211142   PMID:20235236   PMID:20237276   PMID:20301299   PMID:20301525   PMID:20301642   PMID:20307265   PMID:20346360  
PMID:20350217   PMID:20404275   PMID:20473902   PMID:20564330   PMID:20565773   PMID:20577838   PMID:20581473   PMID:20603019   PMID:20622003   PMID:20628086   PMID:20634891   PMID:20667911  
PMID:20682711   PMID:20682989   PMID:20685810   PMID:20734064   PMID:20734429   PMID:20797318   PMID:20862427   PMID:20885978   PMID:20959473   PMID:21036691   PMID:21068203   PMID:21095583  
PMID:21105199   PMID:21112326   PMID:21126430   PMID:21152044   PMID:21245094   PMID:21259057   PMID:21263249   PMID:21289291   PMID:21289624   PMID:21294585   PMID:21297662   PMID:21330551  
PMID:21352803   PMID:21412070   PMID:21421563   PMID:21454478   PMID:21492476   PMID:21532621   PMID:21540640   PMID:21597466   PMID:21705453   PMID:21709185   PMID:21726607   PMID:21726812  
PMID:21782795   PMID:21791112   PMID:21828274   PMID:21835029   PMID:21873635   PMID:21898662   PMID:21945631   PMID:21947082   PMID:21964812   PMID:21968601   PMID:21988832   PMID:22002709  
PMID:22020746   PMID:22024061   PMID:22028478   PMID:22033265   PMID:22045334   PMID:22109972   PMID:22115830   PMID:22130069   PMID:22209340   PMID:22243968   PMID:22266936   PMID:22278155  
PMID:22301403   PMID:22310290   PMID:22314103   PMID:22316667   PMID:22321641   PMID:22331366   PMID:22344298   PMID:22351431   PMID:22357933   PMID:22377565   PMID:22442258   PMID:22461896  
PMID:22504380   PMID:22534828   PMID:22585601   PMID:22617360   PMID:22658931   PMID:22674574   PMID:22689943   PMID:22710759   PMID:22748914   PMID:22821565   PMID:22860091   PMID:22898364  
PMID:22945649   PMID:22965423   PMID:23018642   PMID:23047509   PMID:23112421   PMID:23139211   PMID:23152365   PMID:23154409   PMID:23201680   PMID:23207623   PMID:23221074   PMID:23226455  
PMID:23239472   PMID:23298711   PMID:23344532   PMID:23360922   PMID:23362281   PMID:23397142   PMID:23399955   PMID:23414517   PMID:23470568   PMID:23538390   PMID:23591524   PMID:23592428  
PMID:23602568   PMID:23668999   PMID:23788427   PMID:23800974   PMID:23817620   PMID:23826135   PMID:23832538   PMID:23863096   PMID:23891973   PMID:23929584   PMID:23973329   PMID:23975369  
PMID:23999427   PMID:24008158   PMID:24052079   PMID:24071738   PMID:24074918   PMID:24078030   PMID:24102952   PMID:24157709   PMID:24211445   PMID:24235142   PMID:24265041   PMID:24307592  
PMID:24312718   PMID:24324267   PMID:24340014   PMID:24382352   PMID:24386371   PMID:24412244   PMID:24424121   PMID:24504368   PMID:24525918   PMID:24580733   PMID:24584437   PMID:24613014  
PMID:24618609   PMID:24641900   PMID:24659668   PMID:24665063   PMID:24704720   PMID:24739390   PMID:24859161   PMID:24928394   PMID:24952347   PMID:25059663   PMID:25060566   PMID:25061104  
PMID:25105734   PMID:25114173   PMID:25119169   PMID:25207745   PMID:25220407   PMID:25228630   PMID:25241761   PMID:25264609   PMID:25267569   PMID:25310401   PMID:25333693   PMID:25370208  
PMID:25373906   PMID:25393365   PMID:25416956   PMID:25426619   PMID:25464861   PMID:25482028   PMID:25502805   PMID:25514493   PMID:25523445   PMID:25531314   PMID:25531329   PMID:25609649  
PMID:25634752   PMID:25639227   PMID:25639869   PMID:25640309   PMID:25670202   PMID:25680269   PMID:25681512   PMID:25684678   PMID:25695693   PMID:25742737   PMID:25760429   PMID:25769430  
PMID:25890228   PMID:25893305   PMID:25910212   PMID:25921273   PMID:26019136   PMID:26022109   PMID:26046389   PMID:26077733   PMID:26079547   PMID:26159157   PMID:26165824   PMID:26171675  
PMID:26186194   PMID:26261604   PMID:26284758   PMID:26339396   PMID:26341919   PMID:26344197   PMID:26383977   PMID:26464677   PMID:26555259   PMID:26572829   PMID:26625141   PMID:26647806  
PMID:26673895   PMID:26687479   PMID:26699655   PMID:26747772   PMID:26754455   PMID:26786210   PMID:26817584   PMID:26848620   PMID:26871637   PMID:26878725   PMID:26974954   PMID:26977879  
PMID:26978681   PMID:26986629   PMID:27060206   PMID:27107012   PMID:27124039   PMID:27146957   PMID:27279345   PMID:27286257   PMID:27302097   PMID:27375208   PMID:27383203   PMID:27412941  
PMID:27432539   PMID:27438138   PMID:27492861   PMID:27492974   PMID:27498705   PMID:27528036   PMID:27595937   PMID:27685626   PMID:27703004   PMID:27769780   PMID:27833918   PMID:27845895  
PMID:27914767   PMID:28042090   PMID:28055015   PMID:28100650   PMID:28115363   PMID:28145479   PMID:28160547   PMID:28174172   PMID:28188630   PMID:28199217   PMID:28240243   PMID:28244607  
PMID:28256094   PMID:28319113   PMID:28339284   PMID:28348487   PMID:28349818   PMID:28356064   PMID:28370334   PMID:28376920   PMID:28393199   PMID:28406602   PMID:28415588   PMID:28417919  
PMID:28423626   PMID:28440445   PMID:28443643   PMID:28445620   PMID:28468752   PMID:28514442   PMID:28522603   PMID:28577946   PMID:28631567   PMID:28638476   PMID:28655924   PMID:28666732  
PMID:28670958   PMID:28674107   PMID:28716708   PMID:28759002   PMID:28821833   PMID:28827661   PMID:28852126   PMID:28867604   PMID:28874282   PMID:28901475   PMID:28924364   PMID:28938919  
PMID:28984049   PMID:28986522   PMID:29065177   PMID:29103024   PMID:29117863   PMID:29146913   PMID:29221668   PMID:29230941   PMID:29329157   PMID:29331421   PMID:29393426   PMID:29468299  
PMID:29512734   PMID:29602802   PMID:29693254   PMID:29703253   PMID:29725250   PMID:29734252   PMID:29749509   PMID:29844126   PMID:29856490   PMID:29892012   PMID:29922945   PMID:29938690  
PMID:29960168   PMID:29986996   PMID:29997244   PMID:30060237   PMID:30196345   PMID:30212393   PMID:30232004   PMID:30251589   PMID:30376214   PMID:30389135   PMID:30421464   PMID:30444564  
PMID:30530919   PMID:30575147   PMID:30587545   PMID:30617054   PMID:30636020   PMID:30653987   PMID:30659096   PMID:30664791   PMID:30705034   PMID:30718277   PMID:30730996   PMID:30737378  
PMID:30741461   PMID:30745456   PMID:30779466   PMID:30804502   PMID:30809044   PMID:30820854   PMID:30915745   PMID:30946932   PMID:30979374   PMID:30980801   PMID:30997579   PMID:31056731  
PMID:31082421   PMID:31091453   PMID:31130994   PMID:31177911   PMID:31209059   PMID:31221662   PMID:31242417   PMID:31388669   PMID:31432189   PMID:31467278   PMID:31481467   PMID:31489963  
PMID:31500428   PMID:31515488   PMID:31582430   PMID:31591477   PMID:31654632   PMID:31681835   PMID:31684910   PMID:31721429   PMID:31837202   PMID:31912090   PMID:31970414   PMID:32029901  
PMID:32043194   PMID:32081064   PMID:32151199   PMID:32155285   PMID:32237038   PMID:32239614   PMID:32296183   PMID:32314446   PMID:32323744   PMID:32366274   PMID:32371398   PMID:32376602  
PMID:32398773   PMID:32415058   PMID:32429474   PMID:32432764   PMID:32434004   PMID:32439219   PMID:32524577   PMID:32573775   PMID:32628850   PMID:32737864   PMID:32814053   PMID:32886291  
PMID:32897998   PMID:32929850   PMID:33053339   PMID:33079408   PMID:33097490   PMID:33146409   PMID:33199824   PMID:33293694   PMID:33303972   PMID:33306668   PMID:33326750   PMID:33327804  
PMID:33347393   PMID:33372356   PMID:33417952   PMID:33495811   PMID:33509126   PMID:33529121   PMID:33546553   PMID:33605573   PMID:33608451   PMID:33686239   PMID:33746597   PMID:33760133  
PMID:33768677   PMID:33774196   PMID:33794845   PMID:33961781   PMID:33990575   PMID:34002944   PMID:34048444   PMID:34070531   PMID:34114372   PMID:34163033   PMID:34301194   PMID:34320363  
PMID:34329870   PMID:34362797   PMID:34381046   PMID:34383767   PMID:34528447   PMID:34703008   PMID:34717960   PMID:34785655   PMID:34957936   PMID:35025139   PMID:35034624   PMID:35151205  
PMID:35199612   PMID:35220882   PMID:35318442   PMID:35359452   PMID:35426367   PMID:35456471   PMID:35475028   PMID:35484112   PMID:35545731   PMID:35680374   PMID:35716259   PMID:35751569  
PMID:35811497   PMID:35831314   PMID:35863523   PMID:35879950   PMID:35898699   PMID:35942952   PMID:35945219   PMID:36038259   PMID:36049049   PMID:36053032   PMID:36114006   PMID:36120950  
PMID:36194927   PMID:36203070   PMID:36213818   PMID:36215168   PMID:36219392   PMID:36377587   PMID:36418055   PMID:36450103   PMID:36469259   PMID:36496093   PMID:36543142   PMID:36546711  
PMID:36579465   PMID:36635499   PMID:36740808   PMID:36916236   PMID:36916534   PMID:36991117   PMID:37175608   PMID:37428273   PMID:37488750   PMID:37596505   PMID:37610394   PMID:37648039  
PMID:37664931   PMID:37816352   PMID:37827155   PMID:37962020   PMID:38270141   PMID:38286358   PMID:38421638   PMID:38456416   PMID:38504385   PMID:38509727   PMID:38914552  


Genomics

Comparative Map Data
SMAD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381851,030,213 - 51,085,042 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1851,028,528 - 51,085,045 (+)EnsemblGRCh38hg38GRCh38
GRCh371848,556,583 - 48,611,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361846,810,611 - 46,860,145 (+)NCBINCBI36Build 36hg18NCBI36
Build 341846,810,610 - 46,860,144NCBI
Celera1845,413,367 - 45,468,195 (+)NCBICelera
Cytogenetic Map18q21.2NCBI
HuRef1845,411,927 - 45,466,923 (+)NCBIHuRef
CHM1_11848,551,997 - 48,606,836 (+)NCBICHM1_1
T2T-CHM13v2.01851,231,926 - 51,286,759 (+)NCBIT2T-CHM13v2.0
Smad4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391873,767,861 - 73,836,862 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1873,772,080 - 73,836,851 (-)EnsemblGRCm39 Ensembl
GRCm381873,634,790 - 73,703,791 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1873,639,009 - 73,703,780 (-)EnsemblGRCm38mm10GRCm38
MGSCv371873,798,667 - 73,863,395 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361873,764,382 - 73,829,110 (-)NCBIMGSCv36mm8
Celera1874,884,056 - 74,923,073 (-)NCBICelera
Cytogenetic Map18E2NCBI
cM Map1849.51NCBI
Smad4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81869,518,988 - 69,549,684 (-)NCBIGRCr8
mRatBN7.21867,243,742 - 67,274,438 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1867,243,742 - 67,274,438 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1869,351,818 - 69,382,528 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01870,026,538 - 70,057,217 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01867,891,801 - 67,922,479 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01869,626,682 - 69,657,373 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1869,627,757 - 69,671,199 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01868,773,326 - 68,802,354 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41870,432,705 - 70,461,541 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11870,504,785 - 70,534,814 (-)NCBI
Celera1865,246,042 - 65,276,480 (-)NCBICelera
Cytogenetic Map18q12.2NCBI
Smad4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540235,961,165 - 35,994,538 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540235,956,080 - 36,001,746 (+)NCBIChiLan1.0ChiLan1.0
SMAD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21768,549,261 - 68,603,954 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11854,241,866 - 54,296,559 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01844,402,112 - 44,456,779 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11847,692,311 - 47,802,530 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1847,764,568 - 47,797,359 (+)Ensemblpanpan1.1panPan2
SMAD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1123,875,989 - 23,930,027 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl123,882,139 - 23,969,405 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha124,868,005 - 24,956,178 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0123,767,402 - 23,821,366 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl123,772,519 - 23,821,180 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1123,833,038 - 23,921,205 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0123,719,264 - 23,807,404 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0123,987,158 - 24,041,139 (-)NCBIUU_Cfam_GSD_1.0
Smad4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494437,008,523 - 37,038,961 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649712,249,140 - 12,278,123 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649712,242,869 - 12,278,012 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMAD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1100,589,850 - 100,628,029 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11100,521,843 - 100,633,501 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21110,456,997 - 110,568,659 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SMAD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11829,894,157 - 29,951,445 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1829,897,621 - 29,934,478 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660504,018,900 - 4,079,370 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smad4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477814,570,348 - 14,630,325 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477814,570,025 - 14,629,950 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMAD4
1841 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311854]|Hereditary cancer-predisposing syndrome [RCV000564817]|Juvenile polyposis syndrome [RCV000548532]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999047] Chr18:51054964 [GRCh38]
Chr18:48581334 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002316529]|Juvenile polyposis syndrome [RCV002231357] Chr18:51067106..51067107 [GRCh38]
Chr18:48593476..48593477 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.380G>A (p.Cys127Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311853]|Juvenile polyposis syndrome [RCV000524554] Chr18:51048816 [GRCh38]
Chr18:48575186 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.250-5T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311944]|Juvenile polyposis syndrome [RCV000902773] Chr18:51048681 [GRCh38]
Chr18:48575051 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.425-8C>T single nucleotide variant Juvenile polyposis syndrome [RCV002231362] Chr18:51049287 [GRCh38]
Chr18:48575657 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.855C>T (p.Asn285=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311906]|Hereditary cancer-predisposing syndrome [RCV000562277]|Juvenile polyposis syndrome [RCV000872461]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001080]|not provided [RCV003478264]|not specified [RCV000608699] Chr18:51058407 [GRCh38]
Chr18:48584777 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1283A>C (p.Lys428Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311913] Chr18:51067162 [GRCh38]
Chr18:48593532 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.625A>G (p.Thr209Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559167]|Juvenile polyposis syndrome [RCV002231714] Chr18:51054951 [GRCh38]
Chr18:48581321 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.763G>T (p.Gly255Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311855]|Hereditary cancer-predisposing syndrome [RCV000568236]|Juvenile polyposis syndrome [RCV000540866]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003476249]|not provided [RCV002291657] Chr18:51058220 [GRCh38]
Chr18:48584590 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.9T>C (p.Asn3=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311907]|Hereditary cancer-predisposing syndrome [RCV000567859]|Juvenile polyposis syndrome [RCV002232643]|not specified [RCV003323621] Chr18:51047055 [GRCh38]
Chr18:48573425 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311857]|Hereditary cancer-predisposing syndrome [RCV000563754]|Juvenile polyposis syndrome [RCV001083899]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999051]|not provided [RCV000759352]|not specified [RCV000602454] Chr18:51059870 [GRCh38]
Chr18:48586240 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.621T>C (p.Asn207=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002358481]|Hereditary cancer-predisposing syndrome [RCV003584650]|Juvenile polyposis syndrome [RCV000544908] Chr18:51054947 [GRCh38]
Chr18:48581317 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1098A>G (p.Gln366=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002323939]|Hereditary cancer-predisposing syndrome [RCV000777277]|Juvenile polyposis syndrome [RCV000545033]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003804]|not specified [RCV000608407] Chr18:51065565 [GRCh38]
Chr18:48591935 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.632C>G (p.Thr211Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317327] Chr18:51054958 [GRCh38]
Chr18:48581328 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.84A>G (p.Gln28=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311856]|Hereditary cancer-predisposing syndrome [RCV000572232]|Juvenile polyposis syndrome [RCV001086440]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999050]|not provided [RCV000679592]|not specified [RCV002476125] Chr18:51047130 [GRCh38]
Chr18:48573500 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.914A>C (p.His305Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002376966]|Juvenile polyposis syndrome [RCV002527609]|not provided [RCV000522043] Chr18:51059875 [GRCh38]
Chr18:48586245 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311850]|Hereditary cancer-predisposing syndrome [RCV000562603]|Juvenile polyposis syndrome [RCV000558005]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003476248]|Myhre syndrome [RCV000764164]|not provided [RCV001662542] Chr18:51067098 [GRCh38]
Chr18:48593468 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.516G>A (p.Leu172=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311916]|Juvenile polyposis syndrome [RCV001458693] Chr18:51054842 [GRCh38]
Chr18:48581212 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.320A>G (p.Asn107Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311945] Chr18:51048756 [GRCh38]
Chr18:48575126 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.424+1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002328206]|Juvenile polyposis syndrome [RCV003094604] Chr18:51048861 [GRCh38]
Chr18:48575231 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1447+1G>A single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000032042] Chr18:51076777 [GRCh38]
Chr18:48603147 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.1244_1247delACAG (p.Asp415Glufs) deletion Jp/hht [RCV000021727]|Juvenile polyposis syndrome [RCV000020634]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021727] Chr18:51067123..51067126 [GRCh38]
Chr18:48593493..48593496 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.(?_-17093)_(1659_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021675] Chr18:51013658..51078467 [GRCh38]
Chr18:48540028..48604837 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.189_197delAAATGGAGCins44 (p.?) indel Generalized juvenile polyposis/juvenile polyposis coli [RCV000021676] Chr18:51047235..51047243 [GRCh38]
Chr18:48573605..48573613 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.905-32= single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021677] Chr18:51059834 [GRCh38]
Chr18:48586204 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.302G>A (p.Trp101Ter) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021678] Chr18:51048738 [GRCh38]
Chr18:48575108 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) single nucleotide variant Carcinoma of colon [RCV001357816]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310631]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000021679]|Hereditary cancer-predisposing syndrome [RCV000128170]|Juvenile polyposis syndrome [RCV001507222]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000349756]|Myhre syndrome [RCV000291347]|not provided [RCV000679589]|not specified [RCV000213003] Chr18:51048790 [GRCh38]
Chr18:48575160 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005359.6(SMAD4):c.373_374insAT (p.Ser125fs) insertion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021680] Chr18:51048809..51048810 [GRCh38]
Chr18:48575179..48575180 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.375_381dup (p.Val128fs) duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000021681] Chr18:51048810..51048811 [GRCh38]
Chr18:48575180..48575181 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003162257]|Hereditary cancer-predisposing syndrome [RCV003584515]|Juvenile polyposis syndrome [RCV001376608]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004018652]|not provided [RCV001556662] Chr18:51048839 [GRCh38]
Chr18:48575209 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.425-6A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002326681]|Juvenile polyposis syndrome [RCV003595857]|not provided [RCV000235856] Chr18:51049289 [GRCh38]
Chr18:48575659 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002311523]|Juvenile polyposis syndrome [RCV001376568]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004018653] Chr18:51049296..51049297 [GRCh38]
Chr18:48575666..48575667 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.437T>A (p.Leu146Ter) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021685] Chr18:51049307 [GRCh38]
Chr18:48575677 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.516_527del (p.Ser173_Gly176del) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021686] Chr18:51054842..51054853 [GRCh38]
Chr18:48581212..48581223 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310632]|Juvenile polyposis syndrome [RCV002288516]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001310210] Chr18:51054859 [GRCh38]
Chr18:48581229 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.538C>T (p.Gln180Ter) single nucleotide variant Juvenile polyposis syndrome [RCV003064518] Chr18:51054864 [GRCh38]
Chr18:48581234 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.608del (p.Pro203fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021689] Chr18:51054931 [GRCh38]
Chr18:48581301 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.668-?_1659+?del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021690] Chr18:48584495..48604837 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002310633]|Hereditary cancer-predisposing syndrome [RCV000214505]|Juvenile polyposis of stomach [RCV000009069]|Juvenile polyposis syndrome [RCV001386505]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021692]|not provided [RCV002054467] Chr18:51058143..51058144 [GRCh38]
Chr18:48584513..48584514 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) insertion Familial thoracic aortic aneurysm and aortic dissection [RCV002381259]|Juvenile polyposis syndrome [RCV002513159]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003450650] Chr18:51058186..51058187 [GRCh38]
Chr18:48584558..48584559 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.788-?_1659+?del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021694] Chr18:48584710..48604837 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.829_830delAC (p.Pro278Terfs) deletion Juvenile polyposis syndrome [RCV000021695] Chr18:51058381..51058382 [GRCh38]
Chr18:48584751..48584752 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.831_832del (p.Thr277_Pro278insTer) microsatellite Juvenile polyposis syndrome [RCV001797981] Chr18:51058379..51058380 [GRCh38]
Chr18:48584749..48584750 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.905-52A>G single nucleotide variant Juvenile polyposis syndrome [RCV003315506]|not provided [RCV001668133]|not specified [RCV001001443] Chr18:51059814 [GRCh38]
Chr18:48586184 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.925_928dup (p.Phe310fs) duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000021698] Chr18:51059884..51059885 [GRCh38]
Chr18:48586254..48586255 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.970T>C (p.Cys324Arg) single nucleotide variant not provided [RCV000236187] Chr18:51065437 [GRCh38]
Chr18:48591807 [GRCh37]
Chr18:18q21.2		 pathogenic|uncertain significance
NM_005359.6(SMAD4):c.971del (p.Cys324fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021700] Chr18:51065438 [GRCh38]
Chr18:48591808 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001851989]|Neoplasm of the large intestine [RCV000443865] Chr18:51065548 [GRCh38]
Chr18:48591918 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.988G>A (p.Glu330Lys) single nucleotide variant JP and JP/HHT [RCV000021703] Chr18:51065455 [GRCh38]
Chr18:48591825 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129952]|not provided [RCV000059737] Chr18:51065456 [GRCh38]
Chr18:48591826 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|not provided
NM_005359.6(SMAD4):c.1037del (p.Pro346fs) deletion Juvenile polyposis syndrome [RCV002228050] Chr18:51065502 [GRCh38]
Chr18:48591872 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1042_1043del (p.Val348fs) deletion Juvenile polyposis syndrome [RCV001797982] Chr18:51065508..51065509 [GRCh38]
Chr18:48591878..48591879 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1055G>A (p.Gly352Glu) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021708] Chr18:51065522 [GRCh38]
Chr18:48591892 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1058A>C (p.Tyr353Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585818] Chr18:51065525 [GRCh38]
Chr18:48591895 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) single nucleotide variant Breast neoplasm [RCV000418132]|Carcinoma of esophagus [RCV000436432]|Gastric adenocarcinoma [RCV000418748]|Juvenile polyposis syndrome [RCV002228051]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV002470716]|Lung adenocarcinoma [RCV000428136]|Neoplasm of the large intestine [RCV000428393]|Neoplasm of uterine cervix [RCV000425278]|Pancreatic adenocarcinoma [RCV000441273]|Squamous cell carcinoma of the head and neck [RCV000438396] Chr18:51065548 [GRCh38]
Chr18:48591918 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) single nucleotide variant Breast neoplasm [RCV000441473]|Carcinoma of esophagus [RCV000423753]|Familial thoracic aortic aneurysm and aortic dissection [RCV002316201]|Gastric adenocarcinoma [RCV000439037]|Juvenile polyposis syndrome [RCV000635423]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004018654]|Lung adenocarcinoma [RCV000434006]|Myhre syndrome [RCV000763030]|Neoplasm of the large intestine [RCV000431203]|Neoplasm of uterine cervix [RCV000419206]|Pancreatic adenocarcinoma [RCV000431590]|Squamous cell carcinoma of the head and neck [RCV000421390]|not provided [RCV000520995] Chr18:51065549 [GRCh38]
Chr18:48591919 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1082G>T (p.Arg361Leu) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021713] Chr18:51065549 [GRCh38]
Chr18:48591919 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1087T>C (p.Cys363Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561259] Chr18:51065554 [GRCh38]
Chr18:48591924 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1088_1090del (p.Cys363del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002428202] Chr18:51065553..51065555 [GRCh38]
Chr18:48591923..48591925 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1091T>G (p.Leu364Trp) single nucleotide variant Juvenile polyposis syndrome [RCV002015235] Chr18:51065558 [GRCh38]
Chr18:48591928 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1102_1103del (p.Ser368fs) microsatellite Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021717] Chr18:51065566..51065567 [GRCh38]
Chr18:48591936..48591937 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1113del (p.His371fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021718] Chr18:51065580 [GRCh38]
Chr18:48591950 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002453278]|Juvenile polyposis syndrome [RCV001376547]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004018695] Chr18:51065606 [GRCh38]
Chr18:48591976 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.1139+1G>A single nucleotide variant Juvenile polyposis syndrome [RCV001991320] Chr18:51065607 [GRCh38]
Chr18:48591977 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1148T>A (p.Ile383Lys) single nucleotide variant not provided [RCV001354075] Chr18:51067027 [GRCh38]
Chr18:48593397 [GRCh37]
Chr18:18q21.2		 pathogenic|uncertain significance
NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021723]|Juvenile polyposis syndrome [RCV001851990] Chr18:51067041 [GRCh38]
Chr18:48593411 [GRCh37]
Chr18:18q21.2		 pathogenic|not provided
NM_005359.6(SMAD4):c.1168G>A (p.Glu390Lys) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021724] Chr18:51067047 [GRCh38]
Chr18:48593417 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1193G>A (p.Trp398Ter) single nucleotide variant Juvenile polyposis syndrome [RCV003596862] Chr18:51067072 [GRCh38]
Chr18:48593442 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1242del (p.Asp415fs) deletion Juvenile polyposis syndrome [RCV002228052] Chr18:51067121 [GRCh38]
Chr18:48593491 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1268del (p.Gly423fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021730] Chr18:51067146 [GRCh38]
Chr18:48593516 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310634]|Gallbladder cancer [RCV001374448]|Juvenile polyposis syndrome [RCV001376567]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000023059]|not provided [RCV000493396] Chr18:51076662 [GRCh38]
Chr18:48603032 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1342C>T (p.Gln448Ter) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021732] Chr18:51076671 [GRCh38]
Chr18:48603041 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1343_1365del (p.Gln448fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021733] Chr18:51076672..51076694 [GRCh38]
Chr18:48603042..48603064 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002318946] Chr18:51076690..51076693 [GRCh38]
Chr18:48603060..48603063 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1409_1410insCCCT (p.Gly471fs) insertion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021735] Chr18:51076738..51076739 [GRCh38]
Chr18:48603108..48603109 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1411_1435del (p.Gly471fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021736] Chr18:51076740..51076764 [GRCh38]
Chr18:48603110..48603134 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1421del (p.Gly473_Ser474insTer) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021737] Chr18:51076750 [GRCh38]
Chr18:48603120 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1472G>T (p.Gly491Val) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021738] Chr18:51078280 [GRCh38]
Chr18:48604650 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1478A>C (p.Asp493Ala) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021739] Chr18:51078286 [GRCh38]
Chr18:48604656 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1525T>A (p.Trp509Arg) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021740] Chr18:51078333 [GRCh38]
Chr18:48604703 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1527G>A (p.Trp509Ter) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021741] Chr18:51078335 [GRCh38]
Chr18:48604705 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1529G>T (p.Gly510Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002400831] Chr18:51078337 [GRCh38]
Chr18:48604707 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1544del (p.Arg515fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021743] Chr18:51078352 [GRCh38]
Chr18:48604722 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.1547_1550dupAGAG (p.Ser517Argfs) microsatellite Generalized juvenile polyposis/juvenile polyposis coli [RCV000021744] Chr18:51078354..51078355 [GRCh38]
Chr18:48604724..48604725 [GRCh37]
Chr18:18q21.2		 pathogenic
SMAD4:c.1550_1551insAGAG (p.Ser517delinsArgGluHisfs) insertion Juvenile polyposis syndrome [RCV000021745] Chr18:51078358..51078359 [GRCh38]
Chr18:48604728..48604729 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1564_1565del (p.Pro522fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021746] Chr18:51078372..51078373 [GRCh38]
Chr18:48604742..48604743 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1571G>T (p.Trp524Leu) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021747] Chr18:51078379 [GRCh38]
Chr18:48604749 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1587dup (p.His530fs) duplication Juvenile polyposis syndrome [RCV001387140] Chr18:51078394..51078395 [GRCh38]
Chr18:48604764..48604765 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1588del (p.His530fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000021749] Chr18:51078396 [GRCh38]
Chr18:48604766 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1586_1587dup (p.His530fs) duplication Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021750] Chr18:51078393..51078394 [GRCh38]
Chr18:48604763..48604764 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1594del (p.Ala532fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021751] Chr18:51078400 [GRCh38]
Chr18:48604770 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1596_1597delinsT (p.Leu533fs) indel Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021752] Chr18:51078404..51078405 [GRCh38]
Chr18:48604774..48604775 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1597del (p.Leu533fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021753] Chr18:51078403 [GRCh38]
Chr18:48604773 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1597C>G (p.Leu533Val) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000021754] Chr18:51078405 [GRCh38]
Chr18:48604775 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1598T>G (p.Leu533Arg) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021755] Chr18:51078406 [GRCh38]
Chr18:48604776 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1600C>T (p.Gln534Ter) single nucleotide variant Juvenile polyposis syndrome [RCV003596863] Chr18:51078408 [GRCh38]
Chr18:48604778 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1598T>C (p.Leu533Pro) single nucleotide variant Juvenile polyposis syndrome [RCV001991338] Chr18:51078406 [GRCh38]
Chr18:48604776 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1607dup (p.Asp537fs) duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000021758] Chr18:51078414..51078415 [GRCh38]
Chr18:48604784..48604785 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1612_1625del (p.Glu538fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021759] Chr18:51078418..51078431 [GRCh38]
Chr18:48604788..48604801 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1139+274del deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000021760] Chr18:51065877 [GRCh38]
Chr18:48592247 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1072G>T (p.Gly358Ter) single nucleotide variant Carcinoma of pancreas [RCV000009062] Chr18:51065539 [GRCh38]
Chr18:48591909 [GRCh37]
Chr18:18q21.2		 pathogenic|other
NM_005359.6(SMAD4):c.1236C>G (p.Tyr412Ter) single nucleotide variant Carcinoma of pancreas [RCV000009063] Chr18:51067115 [GRCh38]
Chr18:48593485 [GRCh37]
Chr18:18q21.2		 pathogenic|other
NM_005359.6(SMAD4):c.1477G>C (p.Asp493His) single nucleotide variant Carcinoma of pancreas [RCV000009064] Chr18:51078285 [GRCh38]
Chr18:48604655 [GRCh37]
Chr18:18q21.2		 pathogenic|other
NM_005359.6(SMAD4):c.1543A>T (p.Arg515Ter) single nucleotide variant Carcinoma of pancreas [RCV000009065] Chr18:51078351 [GRCh38]
Chr18:48604721 [GRCh37]
Chr18:18q21.2		 pathogenic|other
SMAD4, 4-BP DEL, NT1372 deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000009066] Chr18:18q21.1 pathogenic
SMAD4, 2-BP DEL deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000009067] Chr18:18q21.1 pathogenic
SMAD4, 1-BP INS insertion Generalized juvenile polyposis/juvenile polyposis coli [RCV000009068]|Juvenile polyposis of stomach [RCV000009069]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000009070] Chr18:18q21.1 pathogenic
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) single nucleotide variant Breast neoplasm [RCV000424666]|Carcinoma of esophagus [RCV000435832]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311508]|Gastric adenocarcinoma [RCV000419013]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000009071]|Juvenile polyposis syndrome [RCV001376609]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000009072]|Lung adenocarcinoma [RCV000429075]|Neoplasm of the large intestine [RCV000434956]|Neoplasm of uterine cervix [RCV000440366]|Pancreatic adenocarcinoma [RCV000419899]|SMAD4-related disorder [RCV003924819]|Squamous cell carcinoma of the head and neck [RCV000430148]|not provided [RCV000059732] Chr18:51065548 [GRCh38]
Chr18:48591918 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|not provided
SMAD4, 2-BP DEL, 959AC deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000009073] Chr18:18q21.1 pathogenic
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) single nucleotide variant Carcinoma of esophagus [RCV000435285]|Gastric adenocarcinoma [RCV000444854]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000009074]|Lung adenocarcinoma [RCV000431620]|Neoplasm of the large intestine [RCV000422272]|Pancreatic adenocarcinoma [RCV000425012]|Prostate adenocarcinoma [RCV000443856] Chr18:51067036 [GRCh38]
Chr18:48593406 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001731312]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000009075]|not provided [RCV000059731] Chr18:51065521 [GRCh38]
Chr18:48591891 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|not provided
SMAD4, 14-BP DEL, NT1612 deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000009076] Chr18:18q21.1 pathogenic
SMAD4, 2-BP DEL/1-BP INS, 1596CC/T indel Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000009077] Chr18:18q21.1 pathogenic
NM_005359.6(SMAD4):c.1448-10T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190156]|Juvenile polyposis syndrome [RCV000552812]|not provided [RCV001696942] Chr18:51078246 [GRCh38]
Chr18:48604616 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1139+10G>A single nucleotide variant Juvenile polyposis syndrome [RCV002231353] Chr18:51065616 [GRCh38]
Chr18:48591986 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.525A>G (p.Glu175=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319040]|Juvenile polyposis syndrome [RCV001088063]|SMAD4-related disorder [RCV003960284]|not provided [RCV000756669] Chr18:51054851 [GRCh38]
Chr18:48581221 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.472G>T (p.Val158Leu) single nucleotide variant Juvenile polyposis syndrome [RCV002231364] Chr18:51054798 [GRCh38]
Chr18:48581168 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.464G>A (p.Ser155Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311918]|Juvenile polyposis syndrome [RCV000691266]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001085] Chr18:51054790 [GRCh38]
Chr18:48581160 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.566G>T (p.Arg189Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311929]|Hereditary cancer-predisposing syndrome [RCV000564479] Chr18:51054892 [GRCh38]
Chr18:48581262 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317329] Chr18:51059866 [GRCh38]
Chr18:48586236 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002341293]|Juvenile polyposis syndrome [RCV000557020]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999045]|not provided [RCV000996687] Chr18:51054805 [GRCh38]
Chr18:48581175 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.903del (p.Trp302fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002317322] Chr18:51058455 [GRCh38]
Chr18:48584825 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1254T>G (p.Ala418=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311851]|Juvenile polyposis syndrome [RCV002231358] Chr18:51067133 [GRCh38]
Chr18:48593503 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.425-5T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315233] Chr18:51049290 [GRCh38]
Chr18:48575660 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1632G>C (p.Pro544=) single nucleotide variant Juvenile polyposis syndrome [RCV002231360] Chr18:51078440 [GRCh38]
Chr18:48604810 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.861T>C (p.His287=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311939]|Juvenile polyposis syndrome [RCV002060496] Chr18:51058413 [GRCh38]
Chr18:48584783 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.966T>C (p.Tyr322=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002377042]|Hereditary cancer-predisposing syndrome [RCV003584652]|Juvenile polyposis syndrome [RCV000546621]|not provided [RCV003478135] Chr18:51065433 [GRCh38]
Chr18:48591803 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.189A>G (p.Thr63=) single nucleotide variant Juvenile polyposis syndrome [RCV000547978]|SMAD4-related disorder [RCV003935421] Chr18:51047235 [GRCh38]
Chr18:48573605 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140-1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002456004]|not provided [RCV000518874] Chr18:51067018 [GRCh38]
Chr18:48593388 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1534G>A (p.Asp512Asn) single nucleotide variant Juvenile polyposis syndrome [RCV002231359] Chr18:51078342 [GRCh38]
Chr18:48604712 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1159G>A (p.Val387Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311924]|Juvenile polyposis syndrome [RCV001226236] Chr18:51067038 [GRCh38]
Chr18:48593408 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002315870]|Juvenile polyposis syndrome [RCV003762803] Chr18:51076669..51076696 [GRCh38]
Chr18:48603039..48603066 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.275_276del (p.His92fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002317330]|Juvenile polyposis syndrome [RCV003596041] Chr18:51048711..51048712 [GRCh38]
Chr18:48575081..48575082 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.894C>T (p.Pro298=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311910]|Hereditary cancer-predisposing syndrome [RCV000566413]|Juvenile polyposis syndrome [RCV001417499]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001081]|not provided [RCV000759351]|not specified [RCV001821680] Chr18:51058446 [GRCh38]
Chr18:48584816 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002404587]|not provided [RCV000581805] Chr18:51065526 [GRCh38]
Chr18:48591896 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.702T>G (p.Ser234Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580278] Chr18:51058159 [GRCh38]
Chr18:48584529 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(?_48573411)_(48604843_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000529456] Chr18:48573411..48604843 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1393G>T (p.Val465Leu) single nucleotide variant Juvenile polyposis syndrome [RCV000542466]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999041] Chr18:51076722 [GRCh38]
Chr18:48603092 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1138del (p.Arg380fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002323940]|Juvenile polyposis syndrome [RCV002231352] Chr18:51065604 [GRCh38]
Chr18:48591974 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.315C>T (p.His105=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315869]|Hereditary cancer-predisposing syndrome [RCV000564616] Chr18:51048751 [GRCh38]
Chr18:48575121 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001852006]|Myhre syndrome [RCV000023060]|not provided [RCV000059734] Chr18:51078307 [GRCh38]
Chr18:48604677 [GRCh37]
Chr18:18q21.2		 pathogenic|not provided
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558272]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000635427]|Intellectual disability [RCV001260808]|Juvenile polyposis syndrome [RCV001376590]|Myhre syndrome [RCV000023061]|Myhre syndrome [RCV000763031]|Myhre syndrome [RCV001249691]|Neurodevelopmental delay [RCV001375955]|not provided [RCV000059733] Chr18:51078306 [GRCh38]
Chr18:48604676 [GRCh37]
Chr18:18q21.2		 pathogenic|not provided
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) single nucleotide variant Myhre syndrome [RCV000023062]|not provided [RCV000059735] Chr18:51078308 [GRCh38]
Chr18:48604678 [GRCh37]
Chr18:18q21.2		 pathogenic|not provided
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170612]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310997]|Gastrointestinal polyposis [RCV000148889]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000123259]|Hereditary cancer-predisposing syndrome [RCV000771070]|Juvenile polyposis syndrome [RCV001420980]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000383039]|Myhre syndrome [RCV000327173]|not provided [RCV000034710]|not specified [RCV000213006] Chr18:51078381 [GRCh38]
Chr18:48604751 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310998]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000196842]|Hereditary cancer-predisposing syndrome [RCV000115884]|Juvenile polyposis syndrome [RCV001507132]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315550]|not provided [RCV000034711]|not specified [RCV000122057] Chr18:51054891 [GRCh38]
Chr18:48581261 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311543]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000662613]|Hereditary cancer-predisposing syndrome [RCV000561032]|Juvenile polyposis syndrome [RCV001293427]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315582]|Pulmonary hypertension, primary, 1 [RCV000488661]|not provided [RCV000059736]|not specified [RCV000122056] Chr18:51047084 [GRCh38]
Chr18:48573454 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance|not provided
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002319075]|Juvenile polyposis syndrome [RCV001381916]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003472053]|not provided [RCV000657356] Chr18:51078355..51078356 [GRCh38]
Chr18:48604725..48604726 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002325331]|Juvenile polyposis syndrome [RCV000698896]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004026002]|not provided [RCV000657385] Chr18:51065596..51065597 [GRCh38]
Chr18:48591966..48591967 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1308+2T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000662091]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000662093]|Myhre syndrome [RCV000662092] Chr18:51067189 [GRCh38]
Chr18:48593559 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.982dup (p.Tyr328fs) duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000021701] Chr18:51065447..51065448 [GRCh38]
Chr18:48591817..48591818 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311544]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000541839]|Hereditary cancer-predisposing syndrome [RCV003584539]|Juvenile polyposis syndrome [RCV002228175]|Moyamoya angiopathy [RCV001261800]|Myhre syndrome [RCV000074360]|Myhre syndrome [RCV002483120]|SMAD4-related disorder [RCV003398656]|not provided [RCV000160962] Chr18:51078294 [GRCh38]
Chr18:48604664 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002381421]|Hereditary cancer-predisposing syndrome [RCV000115881]|Juvenile polyposis syndrome [RCV003761747]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004019614]|not provided [RCV000235213] Chr18:51076673..51076697 [GRCh38]
Chr18:48603043..48603067 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005359.6(SMAD4):c.424+5G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770696]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311002]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000204731]|Hereditary cancer-predisposing syndrome [RCV000115883]|Juvenile polyposis syndrome [RCV002228348]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000306889]|Myhre syndrome [RCV000346296]|not provided [RCV000656977]|not specified [RCV000213004] Chr18:51048865 [GRCh38]
Chr18:48575235 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.790A>G (p.Ser264Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002415593]|Juvenile polyposis syndrome [RCV003595862]|not provided [RCV000115885] Chr18:51058342 [GRCh38]
Chr18:48584712 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311006]|Hereditary cancer-predisposing syndrome [RCV000165905]|Juvenile polyposis syndrome [RCV001084830]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997307]|not provided [RCV000760074]|not specified [RCV000601814] Chr18:51047274 [GRCh38]
Chr18:48573644 [GRCh37]
Chr18:18q21.2		 benign|likely benign|uncertain significance
NM_005359.5(SMAD4):c.(?_-1)_249+?dup duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000123257] Chr18:51047046..51047295 [GRCh38]
Chr18:48573416..48573665 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance|not provided
NM_005359.5:c.1448-?_1659+?dup duplication Juvenile polyposis syndrome [RCV000123258] Chr18:18q21.2 not provided
NM_005359.6(SMAD4):c.1606C>T (p.Leu536=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002399492]|Hereditary cancer-predisposing syndrome [RCV003584555]|Juvenile polyposis syndrome [RCV000123260]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997421] Chr18:51078414 [GRCh38]
Chr18:48604784 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310679]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000123261]|Hereditary cancer-predisposing syndrome [RCV000162721]|Juvenile polyposis syndrome [RCV001450073]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125528]|Myhre syndrome [RCV001125527]|SMAD4-related disorder [RCV003894971]|not provided [RCV000858658]|not specified [RCV000439984] Chr18:51078461 [GRCh38]
Chr18:48604831 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.31A>G (p.Thr11Ala) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000123262] Chr18:51047077 [GRCh38]
Chr18:48573447 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312542]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000123263]|Hereditary cancer-predisposing syndrome [RCV000575742]|Juvenile polyposis syndrome [RCV001293440]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315821]|not provided [RCV000236059] Chr18:51054901 [GRCh38]
Chr18:48581271 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310680]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000123264]|Hereditary cancer-predisposing syndrome [RCV003584556]|Juvenile polyposis syndrome [RCV001358798]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315822]|Myhre syndrome [RCV002483236]|SMAD4-related disorder [RCV003422007]|not provided [RCV000986028] Chr18:51058128 [GRCh38]
Chr18:48584498 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310678]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000195767]|Hereditary cancer-predisposing syndrome [RCV000129038]|Juvenile polyposis syndrome [RCV001450076]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315778]|SMAD4-related disorder [RCV003925209]|not provided [RCV000586799]|not specified [RCV000122058] Chr18:51058432 [GRCh38]
Chr18:48584802 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770697]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311007]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000411125]|Hereditary cancer-predisposing syndrome [RCV000132146]|Juvenile polyposis syndrome [RCV001358781]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315779]|not provided [RCV000657009]|not specified [RCV000122059] Chr18:51059908 [GRCh38]
Chr18:48586278 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770698]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310676]|Generalized juvenile polyposis/juvenile polyposis coli [RCV001083846]|Hereditary cancer-predisposing syndrome [RCV000128172]|Juvenile polyposis syndrome [RCV001507168]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000273483]|Myhre syndrome [RCV000388633]|not provided [RCV000587945]|not specified [RCV000213005] Chr18:51065553 [GRCh38]
Chr18:48591923 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310677]|Generalized juvenile polyposis/juvenile polyposis coli [RCV001081790]|Hereditary cancer-predisposing syndrome [RCV000163069]|Juvenile polyposis syndrome [RCV001507176]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127538]|Myhre syndrome [RCV001127537]|not provided [RCV000588941]|not specified [RCV000428000] Chr18:51076721 [GRCh38]
Chr18:48603091 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.1358C>T (p.Thr453Ile) single nucleotide variant not provided [RCV000171276] Chr18:51076687 [GRCh38]
Chr18:48603057 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.455-6A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001083669]|Hereditary cancer-predisposing syndrome [RCV000580717]|Juvenile polyposis syndrome [RCV001507245]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000303525]|Myhre syndrome [RCV000343024]|not provided [RCV003477534]|not specified [RCV000153972] Chr18:51054775 [GRCh38]
Chr18:48581145 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005359.6(SMAD4):c.1140-10T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002453458]|Generalized juvenile polyposis/juvenile polyposis coli [RCV001080462]|Hereditary cancer-predisposing syndrome [RCV000579485]|Juvenile polyposis syndrome [RCV001507129]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127535]|Myhre syndrome [RCV001127536]|Myhre syndrome [RCV002492489]|not provided [RCV000586605]|not specified [RCV000128173] Chr18:51067009 [GRCh38]
Chr18:48593379 [GRCh37]
Chr18:18q21.2		 benign|likely benign|uncertain significance
NM_005359.6(SMAD4):c.*11C>T single nucleotide variant Carcinoma of colon [RCV001354685]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770700]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000338717]|Hereditary cancer-predisposing syndrome [RCV000581104]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000281314]|Myhre syndrome [RCV000398463]|not provided [RCV001699207]|not specified [RCV000128174] Chr18:51078478 [GRCh38]
Chr18:48604848 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005359.6(SMAD4):c.249+9T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000409145]|Juvenile polyposis syndrome [RCV001420974]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316514] Chr18:51047304 [GRCh38]
Chr18:48573674 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-75G>A single nucleotide variant not provided [RCV001565097] Chr18:51058050 [GRCh38]
Chr18:48584420 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002399512]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000144660]|Juvenile polyposis syndrome [RCV002228678]|not provided [RCV000657426] Chr18:51078354..51078355 [GRCh38]
Chr18:48604724..48604725 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1633A>G (p.Ile545Val) single nucleotide variant Juvenile polyposis syndrome [RCV001348852] Chr18:51078441 [GRCh38]
Chr18:48604811 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.865C>A (p.Gln289Lys) single nucleotide variant Juvenile polyposis syndrome [RCV001294481] Chr18:51058417 [GRCh38]
Chr18:48584787 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1216G>A (p.Ala406Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002354447]|not provided [RCV000173811] Chr18:51067095 [GRCh38]
Chr18:48593465 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.175A>G (p.Thr59Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310716]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000411833]|Hereditary cancer-predisposing syndrome [RCV000130371]|Juvenile polyposis syndrome [RCV002228494]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315889] Chr18:51047221 [GRCh38]
Chr18:48573591 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) indel Familial thoracic aortic aneurysm and aortic dissection [RCV002311017]|Hereditary cancer-predisposing syndrome [RCV000130885]|Juvenile polyposis syndrome [RCV001081446]|not provided [RCV000586288]|not specified [RCV004562296] Chr18:51058203..51058204 [GRCh38]
Chr18:48584573..48584574 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311018]|Hereditary cancer-predisposing syndrome [RCV000131130]|Isolated thoracic aortic aneurysm [RCV001374834]|Juvenile polyposis syndrome [RCV000555043]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474774]|Myhre syndrome [RCV002478399]|not provided [RCV000679584]|not specified [RCV004525878] Chr18:51065573 [GRCh38]
Chr18:48591943 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) deletion Carcinoma of colon [RCV001357425]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311019]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000205495]|Hereditary cancer-predisposing syndrome [RCV000131266]|Juvenile polyposis syndrome [RCV001376606]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003485541]|Myhre syndrome [RCV000768095]|Myhre syndrome [RCV003227672]|not provided [RCV000254690] Chr18:51067121..51067124 [GRCh38]
Chr18:48593491..48593494 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.5(SMAD4):c.1344_1368del25 (p.Ala451Leufs) deletion Hereditary cancer-predisposing syndrome [RCV000131747]|Neoplastic Syndromes, Hereditary [RCV000131747] Chr18:51076673..51076697 [GRCh38]
Chr18:48603043..48603067 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1447+4dup duplication Hereditary cancer-predisposing syndrome [RCV000131763] Chr18:51076778..51076779 [GRCh38]
Chr18:48603148..48603149 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1139+2dup duplication Hereditary cancer-predisposing syndrome [RCV000132014] Chr18:51065607..51065608 [GRCh38]
Chr18:48591977..48591978 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310714]|Hereditary cancer-predisposing syndrome [RCV000129151]|Juvenile polyposis syndrome [RCV001386506] Chr18:51076674 [GRCh38]
Chr18:48603044 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1635T>G (p.Ile545Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310715]|Hereditary cancer-predisposing syndrome [RCV000129652]|Juvenile polyposis syndrome [RCV000635470]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997515]|not provided [RCV001550801] Chr18:51078443 [GRCh38]
Chr18:48604813 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129707] Chr18:51067188 [GRCh38]
Chr18:48593558 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1448-5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129765]|Juvenile polyposis syndrome [RCV001419460] Chr18:51078251 [GRCh38]
Chr18:48604621 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer) indel not provided [RCV000153948] Chr18:51048762 [GRCh38]
Chr18:48575132 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1231_1232del (p.Ser411fs) microsatellite Juvenile polyposis syndrome [RCV001054868]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003462106]|not provided [RCV000160956] Chr18:51067108..51067109 [GRCh38]
Chr18:48593478..48593479 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.607C>G (p.Pro203Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313013]|Hereditary cancer-predisposing syndrome [RCV000561819]|Juvenile polyposis syndrome [RCV000534543]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474835]|not provided [RCV000160958] Chr18:51054933 [GRCh38]
Chr18:48581303 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312690]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000199953]|Hereditary cancer-predisposing syndrome [RCV000449407]|Juvenile polyposis syndrome [RCV001420989]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000260140]|Myhre syndrome [RCV000334040]|Myhre syndrome [RCV000515353]|Myhre syndrome [RCV003483531]|not provided [RCV000160959] Chr18:51058134 [GRCh38]
Chr18:48584504 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310721]|Hereditary cancer-predisposing syndrome [RCV000217266]|Juvenile polyposis syndrome [RCV000468723]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003998531]|Myhre syndrome [RCV002485004]|not provided [RCV000656978]|not specified [RCV000160960] Chr18:51059878 [GRCh38]
Chr18:48586248 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter) single nucleotide variant Juvenile polyposis syndrome [RCV001850275]|not provided [RCV000160963] Chr18:51067118 [GRCh38]
Chr18:48593488 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1634T>A (p.Ile545Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312691]|Juvenile polyposis syndrome [RCV000686325]|not provided [RCV000160964] Chr18:51078442 [GRCh38]
Chr18:48604812 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs) duplication Hereditary cancer-predisposing syndrome [RCV000160965]|Juvenile polyposis syndrome [RCV001052787] Chr18:51067135..51067136 [GRCh38]
Chr18:48593505..48593506 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs) deletion not provided [RCV000160966] Chr18:51076666..51076667 [GRCh38]
Chr18:48603036..48603037 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.466ATG[1] (p.Met157del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002310735]|Juvenile polyposis syndrome [RCV000532091]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474860] Chr18:51054792..51054794 [GRCh38]
Chr18:48581162..48581164 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310736]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000197959]|Hereditary cancer-predisposing syndrome [RCV000164559]|Juvenile polyposis syndrome [RCV001328514]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316025]|not provided [RCV001770124] Chr18:51065513 [GRCh38]
Chr18:48591883 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.776C>T (p.Thr259Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310737] Chr18:51058233 [GRCh38]
Chr18:48584603 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.898_904+1dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002310738] Chr18:51058449..51058450 [GRCh38]
Chr18:48584819..48584820 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.104T>C (p.Phe35Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310739] Chr18:51047150 [GRCh38]
Chr18:48573520 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310740]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000196374]|Hereditary cancer-predisposing syndrome [RCV000164798]|Juvenile polyposis syndrome [RCV001328522]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316029]|not provided [RCV001508829] Chr18:51058200 [GRCh38]
Chr18:48584570 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.153dup (p.Asp52fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002312693]|Juvenile polyposis syndrome [RCV000695541]|not provided [RCV000478516] Chr18:51047193..51047194 [GRCh38]
Chr18:48573563..48573564 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.599T>C (p.Leu200Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312694] Chr18:51054925 [GRCh38]
Chr18:48581295 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.474G>A (p.Val158=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311023]|Juvenile polyposis syndrome [RCV001451527]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003995402] Chr18:51054800 [GRCh38]
Chr18:48581170 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311024]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000412222]|Juvenile polyposis syndrome [RCV001446529]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316041]|not provided [RCV003477615] Chr18:51067127 [GRCh38]
Chr18:48593497 [GRCh37]
Chr18:18q21.2		 benign|likely benign|uncertain significance
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310722]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000409431]|Hereditary cancer-predisposing syndrome [RCV000162365]|Juvenile polyposis syndrome [RCV001507225]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315970]|not provided [RCV000679583]|not specified [RCV000438148] Chr18:51047148 [GRCh38]
Chr18:48573518 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310723]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000196213]|Hereditary cancer-predisposing syndrome [RCV000162438]|Juvenile polyposis syndrome [RCV001328507]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123230]|Myhre syndrome [RCV000764159]|Myhre syndrome [RCV001123231]|Pulmonary arterial hypertension [RCV002285148]|SMAD4-related disorder [RCV003398830]|not provided [RCV000589285]|not specified [RCV002468936] Chr18:51047066 [GRCh38]
Chr18:48573436 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310724]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000200571]|Generalized juvenile polyposis/juvenile polyposis coli [RCV003330520]|Hereditary cancer-predisposing syndrome [RCV000162465]|Juvenile polyposis syndrome [RCV001450056]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124423]|Myhre syndrome [RCV001124424]|not provided [RCV000589728]|not specified [RCV000417748] Chr18:51058404 [GRCh38]
Chr18:48584774 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_005359.6(SMAD4):c.276T>C (p.His92=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310725]|Hereditary cancer-predisposing syndrome [RCV000162560]|Juvenile polyposis syndrome [RCV001084691]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003995202]|not provided [RCV000590687] Chr18:51048712 [GRCh38]
Chr18:48575082 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1547A>G (p.Gln516Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311025]|Juvenile polyposis syndrome [RCV002516479] Chr18:51078355 [GRCh38]
Chr18:48604725 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311026]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000233612]|Hereditary cancer-predisposing syndrome [RCV000165366]|Juvenile polyposis syndrome [RCV001293445]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV002470782]|Myhre syndrome [RCV000764161]|not provided [RCV000236451] Chr18:51054861 [GRCh38]
Chr18:48581231 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.483A>G (p.Glu161=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000162711]|Juvenile polyposis syndrome [RCV001070710] Chr18:51054809 [GRCh38]
Chr18:48581179 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.940A>G (p.Ile314Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310726]|Hereditary cancer-predisposing syndrome [RCV000162740]|Juvenile polyposis syndrome [RCV000462441]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474847]|not provided [RCV002277319] Chr18:51059901 [GRCh38]
Chr18:48586271 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310727]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000412290]|Hereditary cancer-predisposing syndrome [RCV000162750]|Juvenile polyposis syndrome [RCV001450081]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124331]|Myhre syndrome [RCV001124332]|SMAD4-related disorder [RCV003927534]|not provided [RCV000760073]|not specified [RCV002222413] Chr18:51047067 [GRCh38]
Chr18:48573437 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.1139+3A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311027]|Juvenile polyposis syndrome [RCV001052725] Chr18:51065609 [GRCh38]
Chr18:48591979 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.5(SMAD4):c.1571_1574delGGATins19 (p.?) indel Hereditary cancer-predisposing syndrome [RCV000165521] Chr18:51078379..51078382 [GRCh38]
Chr18:48604749..48604752 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.231A>G (p.Thr77=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310728]|Hereditary cancer-predisposing syndrome [RCV000162808]|Juvenile polyposis syndrome [RCV001422393] Chr18:51047277 [GRCh38]
Chr18:48573647 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1242dup (p.Asp415fs) duplication Hereditary cancer-predisposing syndrome [RCV000163070] Chr18:51067120..51067121 [GRCh38]
Chr18:48593490..48593491 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310729]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000412158]|Hereditary cancer-predisposing syndrome [RCV000163190]|Juvenile polyposis syndrome [RCV001450084]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003315990]|not provided [RCV000679585]|not specified [RCV000781851] Chr18:51076751 [GRCh38]
Chr18:48603121 [GRCh37]
Chr18:18q21.2		 benign|likely benign|uncertain significance
NM_005359.6(SMAD4):c.1561A>C (p.Thr521Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312695] Chr18:51078369 [GRCh38]
Chr18:48604739 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1310T>G (p.Val437Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312696] Chr18:51076639 [GRCh38]
Chr18:48603009 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310731]|Hereditary cancer-predisposing syndrome [RCV000163557]|Juvenile polyposis syndrome [RCV000469746]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474849]|Nephroblastoma [RCV000761013]|not provided [RCV001589026] Chr18:51058427 [GRCh38]
Chr18:48584797 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.484T>C (p.Tyr162His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312692]|Juvenile polyposis syndrome [RCV001347025] Chr18:51054810 [GRCh38]
Chr18:48581180 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310732]|Hereditary cancer-predisposing syndrome [RCV000163835]|Juvenile polyposis syndrome [RCV000199216]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003995288]|SMAD4-related disorder [RCV003937501]|not specified [RCV000608517] Chr18:51078269 [GRCh38]
Chr18:48604639 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.647A>G (p.Asn216Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310733]|Hereditary cancer-predisposing syndrome [RCV000164044]|Juvenile polyposis syndrome [RCV000686995] Chr18:51054973 [GRCh38]
Chr18:48581343 [GRCh37]
Chr18:18q21.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.1393G>A (p.Val465Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310734]|Hereditary cancer-predisposing syndrome [RCV000772720]|Juvenile polyposis syndrome [RCV000527871]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474854] Chr18:51076722 [GRCh38]
Chr18:48603092 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1448G>A (p.Ser483Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002390398]|Juvenile polyposis syndrome [RCV001371135] Chr18:51078256 [GRCh38]
Chr18:48604626 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs) duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000168084]|Juvenile polyposis syndrome [RCV001389136] Chr18:51076682..51076683 [GRCh38]
Chr18:48603052..48603053 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312697]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000168179]|Hereditary cancer-predisposing syndrome [RCV000573396]|Juvenile polyposis syndrome [RCV001358793]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316067]|Myhre syndrome [RCV002505218]|not provided [RCV001753578]|not specified [RCV001818403] Chr18:51047218 [GRCh38]
Chr18:48573588 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002312698]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000168261]|Hereditary cancer-predisposing syndrome [RCV000567416]|Juvenile polyposis syndrome [RCV001312225]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316069]|not provided [RCV000236619]|not specified [RCV002281990] Chr18:51054847 [GRCh38]
Chr18:48581217 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.1059C>T (p.Tyr353=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317724]|Hereditary cancer-predisposing syndrome [RCV000775645]|Juvenile polyposis syndrome [RCV000196990]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003996963]|not specified [RCV000424497] Chr18:51065526 [GRCh38]
Chr18:48591896 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.871C>T (p.His291Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315629]|Juvenile polyposis syndrome [RCV001369785]|not provided [RCV000481584] Chr18:51058423 [GRCh38]
Chr18:48584793 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.956-3T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317727]|Hereditary cancer-predisposing syndrome [RCV000568565]|Juvenile polyposis syndrome [RCV000198197]|not provided [RCV001618344]|not specified [RCV002228920] Chr18:51065420 [GRCh38]
Chr18:48591790 [GRCh37]
Chr18:18q21.2		 benign|likely benign|uncertain significance
NM_005359.5(SMAD4):c.(?_-1)_(*1_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000198538] Chr18:18q21.2 pathogenic
NM_005359.6(SMAD4):c.634G>A (p.Ala212Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558449]|Juvenile polyposis syndrome [RCV002229494] Chr18:51054960 [GRCh38]
Chr18:48581330 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315626]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000198986]|Hereditary cancer-predisposing syndrome [RCV000564853]|Juvenile polyposis syndrome [RCV001450082]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316107]|SMAD4-related disorder [RCV003955206]|not provided [RCV000756668]|not specified [RCV000423609] Chr18:51058150 [GRCh38]
Chr18:48584520 [GRCh37]
Chr18:18q21.2		 likely pathogenic|benign|likely benign
NM_005359.6(SMAD4):c.127T>G (p.Leu43Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002381691]|Juvenile polyposis syndrome [RCV001368504] Chr18:51047173 [GRCh38]
Chr18:48573543 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.375T>C (p.Ser125=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318957]|Hereditary cancer-predisposing syndrome [RCV000771623]|Juvenile polyposis syndrome [RCV000200777]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003996964]|not provided [RCV001705151] Chr18:51048811 [GRCh38]
Chr18:48575181 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1142T>A (p.Leu381Ter) single nucleotide variant Juvenile polyposis syndrome [RCV001387505] Chr18:51067021 [GRCh38]
Chr18:48593391 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1301A>G (p.Tyr434Cys) single nucleotide variant Juvenile polyposis syndrome [RCV001211678]|not provided [RCV001751387] Chr18:51067180 [GRCh38]
Chr18:48593550 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+3A>G single nucleotide variant Abnormal bleeding [RCV001270578] Chr18:51058459 [GRCh38]
Chr18:48584829 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.460T>G (p.Ser154Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002336554]|Juvenile polyposis syndrome [RCV000204541] Chr18:51054786 [GRCh38]
Chr18:48581156 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.454+8A>T single nucleotide variant Juvenile polyposis syndrome [RCV001451987] Chr18:51049332 [GRCh38]
Chr18:48575702 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-9C>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000204818] Chr18:51047038 [GRCh38]
Chr18:48573408 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.924T>C (p.Leu308=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310797]|Hereditary cancer-predisposing syndrome [RCV000222934]|Juvenile polyposis syndrome [RCV000205432]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997622] Chr18:51059885 [GRCh38]
Chr18:48586255 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1423G>C (p.Val475Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001323692] Chr18:51076752 [GRCh38]
Chr18:48603122 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1515del (p.Phe505fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000205617]|Juvenile polyposis syndrome [RCV001388771] Chr18:51078320 [GRCh38]
Chr18:48604690 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1444A>G (p.Ile482Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002390555]|Juvenile polyposis syndrome [RCV000205846]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997667] Chr18:51076773 [GRCh38]
Chr18:48603143 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311320]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000205905]|Hereditary cancer-predisposing syndrome [RCV000565190]|Juvenile polyposis syndrome [RCV001450086]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316137]|not provided [RCV000589241]|not specified [RCV000437821] Chr18:51054932 [GRCh38]
Chr18:48581302 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.910G>A (p.Val304Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002372194]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000203937]|Hereditary cancer-predisposing syndrome [RCV003584565]|Juvenile polyposis syndrome [RCV001328505]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316126]|not provided [RCV001753607] Chr18:51059871 [GRCh38]
Chr18:48586241 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.955+7G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582845]|Juvenile polyposis syndrome [RCV000204004]|not provided [RCV000986033] Chr18:51059923 [GRCh38]
Chr18:48586293 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.1287C>T (p.Ile429=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002384079]|Hereditary cancer-predisposing syndrome [RCV000583380]|Juvenile polyposis syndrome [RCV001426049] Chr18:51067166 [GRCh38]
Chr18:48593536 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319039]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000553373]|Juvenile polyposis syndrome [RCV001328515]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316697] Chr18:51049319 [GRCh38]
Chr18:48575689 [GRCh37]
Chr18:18q21.2		 benign|uncertain significance
NM_005359.6(SMAD4):c.192T>C (p.Asn64=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002413482]|Hereditary cancer-predisposing syndrome [RCV003584648]|Juvenile polyposis syndrome [RCV002231361] Chr18:51047238 [GRCh38]
Chr18:48573608 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.939C>T (p.Pro313=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315872]|Juvenile polyposis syndrome [RCV000635515] Chr18:51059900 [GRCh38]
Chr18:48586270 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1280A>G (p.His427Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579469] Chr18:51067159 [GRCh38]
Chr18:48593529 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.491A>G (p.His164Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311327]|Juvenile polyposis syndrome [RCV000812644]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003475027] Chr18:51054817 [GRCh38]
Chr18:48581187 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.23A>G (p.Asn8Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310804]|Juvenile polyposis syndrome [RCV002229220]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997838] Chr18:51047069 [GRCh38]
Chr18:48573439 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311064]|Hereditary cancer-predisposing syndrome [RCV000213128]|Juvenile polyposis syndrome [RCV001087208]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997939]|not provided [RCV000587303]|not specified [RCV000428814] Chr18:51078455 [GRCh38]
Chr18:48604825 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.565C>G (p.Arg189Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310806]|Juvenile polyposis syndrome [RCV001853519] Chr18:51054891 [GRCh38]
Chr18:48581261 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.507G>A (p.Gln169=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310811]|Juvenile polyposis syndrome [RCV001464498] Chr18:51054833 [GRCh38]
Chr18:48581203 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311328]|Juvenile polyposis syndrome [RCV001778811] Chr18:51048733 [GRCh38]
Chr18:48575103 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1448-6T>C single nucleotide variant Juvenile polyposis syndrome [RCV001045558]|Pulmonary hypertension, primary, 1 [RCV000488790] Chr18:51078250 [GRCh38]
Chr18:48604620 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1155A>G (p.Lys385=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311934]|Hereditary cancer-predisposing syndrome [RCV000562357]|Juvenile polyposis syndrome [RCV000635522]|not specified [RCV000588020] Chr18:51067034 [GRCh38]
Chr18:48593404 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1487G>A (p.Arg496His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311326]|Hereditary cancer-predisposing syndrome [RCV000213350]|Juvenile polyposis syndrome [RCV001853605] Chr18:51078295 [GRCh38]
Chr18:48604665 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.369T>C (p.Cys123=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310802]|Hereditary cancer-predisposing syndrome [RCV000771472]|Juvenile polyposis syndrome [RCV000230819]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997810]|not provided [RCV000600299] Chr18:51048805 [GRCh38]
Chr18:48575175 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.591C>G (p.Thr197=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311921]|Juvenile polyposis syndrome [RCV001398307] Chr18:51054917 [GRCh38]
Chr18:48581287 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.930C>G (p.Phe310Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310801]|Hereditary cancer-predisposing syndrome [RCV000213480]|Juvenile polyposis syndrome [RCV001857758] Chr18:51059891 [GRCh38]
Chr18:48586261 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.344G>A (p.Cys115Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311324] Chr18:51048780 [GRCh38]
Chr18:48575150 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1642C>G (p.Pro548Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310809] Chr18:51078450 [GRCh38]
Chr18:48604820 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310805] Chr18:51059892 [GRCh38]
Chr18:48586262 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) single nucleotide variant Early age onset of sporadic thoracic aortic dissections [RCV001261774]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311325]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000689822]|Hereditary cancer-predisposing syndrome [RCV000220373]|Heritable Thoracic Aortic Disease [RCV000678043]|Juvenile polyposis syndrome [RCV001312210]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124420]|Myhre syndrome [RCV001123336]|not provided [RCV001762494] Chr18:51058193 [GRCh38]
Chr18:48584563 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002311329] Chr18:51078392..51078393 [GRCh38]
Chr18:48604762..48604763 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1200G>T (p.Arg400Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310803]|Juvenile polyposis syndrome [RCV000800698]|not provided [RCV003221866] Chr18:51067079 [GRCh38]
Chr18:48593449 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1554C>T (p.Ile518=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310815]|Juvenile polyposis syndrome [RCV002054991] Chr18:51078362 [GRCh38]
Chr18:48604732 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1562C>T (p.Thr521Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311323]|Juvenile polyposis syndrome [RCV002229282] Chr18:51078370 [GRCh38]
Chr18:48604740 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311063]|Hereditary cancer-predisposing syndrome [RCV000220772]|Juvenile polyposis syndrome [RCV001081424]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003997938]|SMAD4-related disorder [RCV003891796]|not provided [RCV000589974]|not specified [RCV000436523] Chr18:51067097 [GRCh38]
Chr18:48593467 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.250-589A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208948] Chr18:51048097 [GRCh38]
Chr18:48574467 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-1921T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209006] Chr18:51052860 [GRCh38]
Chr18:48579230 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.90A>G (p.Gly30=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310814]|Juvenile polyposis syndrome [RCV002515717] Chr18:51047136 [GRCh38]
Chr18:48573506 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.153del (p.Asp52fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002310818] Chr18:51047194 [GRCh38]
Chr18:48573564 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.-127-3318A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208911] Chr18:51043602 [GRCh38]
Chr18:48569972 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+54T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208985] Chr18:51055047 [GRCh38]
Chr18:48581417 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.798C>T (p.Thr266=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310817]|Juvenile polyposis syndrome [RCV001426253]|not specified [RCV001194134] Chr18:51058350 [GRCh38]
Chr18:48584720 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1405A>G (p.Ile469Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310808]|Juvenile polyposis syndrome [RCV002229551]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004567541]|not provided [RCV001800550] Chr18:51076734 [GRCh38]
Chr18:48603104 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+623C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209025] Chr18:51067810 [GRCh38]
Chr18:48594180 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.424+165A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209030] Chr18:51049025 [GRCh38]
Chr18:48575395 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-128+540A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209119] Chr18:51031163 [GRCh38]
Chr18:48557533 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-127-135A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209214] Chr18:51046785 [GRCh38]
Chr18:48573155 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-1111A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209225] Chr18:51057014 [GRCh38]
Chr18:48583384 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-128+759G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209288] Chr18:51031382 [GRCh38]
Chr18:48557752 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+4116C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209444] Chr18:51071303 [GRCh38]
Chr18:48597673 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+298T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209564] Chr18:51058754 [GRCh38]
Chr18:48585124 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-128+1995A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209673] Chr18:51032618 [GRCh38]
Chr18:48558988 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+299T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209718] Chr18:51055292 [GRCh38]
Chr18:48581662 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-127-4838G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209310] Chr18:51042082 [GRCh38]
Chr18:48568452 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+291T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209350] Chr18:51049615 [GRCh38]
Chr18:48575985 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.787+15T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209390]|Juvenile polyposis syndrome [RCV002054354]|not specified [RCV000435413] Chr18:51058259 [GRCh38]
Chr18:48584629 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-127-4835G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209498] Chr18:51042085 [GRCh38]
Chr18:48568455 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-128+263G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209543] Chr18:51030886 [GRCh38]
Chr18:48557256 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1257G>C (p.Gly419=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420399]|Juvenile polyposis syndrome [RCV000550378]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999040] Chr18:51067136 [GRCh38]
Chr18:48593506 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-113T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209652] Chr18:51078143 [GRCh38]
Chr18:48604513 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-128+3139C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209726] Chr18:51033762 [GRCh38]
Chr18:48560132 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+2398T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209773] Chr18:51069585 [GRCh38]
Chr18:48595955 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002444842]|Hereditary cancer-predisposing syndrome [RCV000210091] Chr18:51058435..51058444 [GRCh38]
Chr18:48584805..48584814 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.70A>G (p.Met24Val) single nucleotide variant Early age onset of sporadic thoracic aortic dissections [RCV001261773]|Familial thoracic aortic aneurysm and aortic dissection [RCV002310810]|Hereditary cancer-predisposing syndrome [RCV000214905]|Heritable Thoracic Aortic Disease [RCV000678042]|Juvenile polyposis syndrome [RCV000547868]|Myhre syndrome [RCV002494594]|not provided [RCV001589151] Chr18:51047116 [GRCh38]
Chr18:48573486 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.706G>A (p.Gly236Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310807] Chr18:51058163 [GRCh38]
Chr18:48584533 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1349_1376dup (p.Ala460fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002310819]|Juvenile polyposis syndrome [RCV001854711] Chr18:51076668..51076669 [GRCh38]
Chr18:48603038..48603039 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.5(SMAD4):c.(?_-538)_1139+?del deletion Hereditary cancer-predisposing syndrome [RCV000210119] Chr18:51030213..51065606 [GRCh38]
Chr18:48556583..48591976 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.921G>A (p.Glu307=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310812]|Juvenile polyposis syndrome [RCV001500567]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003998038] Chr18:51059882 [GRCh38]
Chr18:48586252 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310816]|Juvenile polyposis syndrome [RCV001071904] Chr18:51065555 [GRCh38]
Chr18:48591925 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.336T>A (p.Val112=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311852]|Hereditary cancer-predisposing syndrome [RCV001186216]|Juvenile polyposis syndrome [RCV000550962]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999044] Chr18:51048772 [GRCh38]
Chr18:48575142 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319529]|Hereditary cancer-predisposing syndrome [RCV001017112]|Juvenile polyposis syndrome [RCV000555938]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003803]|not provided [RCV001764550]|not specified [RCV002231351] Chr18:51065506 [GRCh38]
Chr18:48591876 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.787+7A>G single nucleotide variant Juvenile polyposis syndrome [RCV001088188]|not provided [RCV000759350] Chr18:51058251 [GRCh38]
Chr18:48584621 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1596C>T (p.Ala532=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310813]|Juvenile polyposis syndrome [RCV001451616] Chr18:51078404 [GRCh38]
Chr18:48604774 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311351]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000227775]|Hereditary cancer-predisposing syndrome [RCV000571677]|Juvenile polyposis syndrome [RCV001450080]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001126991]|Myhre syndrome [RCV001126992]|not specified [RCV000441778] Chr18:51048778 [GRCh38]
Chr18:48575148 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.825A>G (p.Pro275=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002429117]|Juvenile polyposis syndrome [RCV000230324]|not provided [RCV003477829] Chr18:51058377 [GRCh38]
Chr18:48584747 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.5(SMAD4):c.-127-?_*6575+?dup duplication Juvenile polyposis syndrome [RCV000231559]   likely benign
NM_005359.6(SMAD4):c.1215C>T (p.His405=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313940]|Hereditary cancer-predisposing syndrome [RCV000572344]|Juvenile polyposis syndrome [RCV000229918]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003998875]|Malignant tumor of breast [RCV001354161]|not specified [RCV002479917] Chr18:51067094 [GRCh38]
Chr18:48593464 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.177A>G (p.Thr59=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311350]|Hereditary cancer-predisposing syndrome [RCV000567186]|Juvenile polyposis syndrome [RCV000230080]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003998876]|not specified [RCV003993903] Chr18:51047223 [GRCh38]
Chr18:48573593 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.183A>C (p.Ile61=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318974]|Hereditary cancer-predisposing syndrome [RCV000775639]|Juvenile polyposis syndrome [RCV000232877] Chr18:51047229 [GRCh38]
Chr18:48573599 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.639C>T (p.Asn213=) single nucleotide variant Juvenile polyposis syndrome [RCV001497884] Chr18:51054965 [GRCh38]
Chr18:48581335 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002347891]|Juvenile polyposis syndrome [RCV002229359]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004020818] Chr18:51067083..51067084 [GRCh38]
Chr18:48593453..48593454 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311349]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000226180]|Hereditary cancer-predisposing syndrome [RCV000573053]|Juvenile polyposis syndrome [RCV001450069]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000340035]|Myhre syndrome [RCV000287385]|SMAD4-related disorder [RCV003967648]|not provided [RCV003326381]|not specified [RCV000613346] Chr18:51078452 [GRCh38]
Chr18:48604822 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.1005A>G (p.Val335=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311348]|Hereditary cancer-predisposing syndrome [RCV000566183]|Juvenile polyposis syndrome [RCV000226401]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003998874]|not provided [RCV001582783] Chr18:51065472 [GRCh38]
Chr18:48591842 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.118A>G (p.Ile40Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002338736]|Juvenile polyposis syndrome [RCV001315849] Chr18:51047164 [GRCh38]
Chr18:48573534 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668G>T (p.Ser223Ile) single nucleotide variant Juvenile polyposis syndrome [RCV001319465] Chr18:51058125 [GRCh38]
Chr18:48584495 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+9G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184079]|Juvenile polyposis syndrome [RCV000232702]|not provided [RCV001284064]|not specified [RCV000423942] Chr18:51076785 [GRCh38]
Chr18:48603155 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.1006G>C (p.Gly336Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002229358] Chr18:51065473 [GRCh38]
Chr18:48591843 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002379005]|Juvenile polyposis syndrome [RCV002229361] Chr18:51059867 [GRCh38]
Chr18:48586237 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311353]|Hereditary cancer-predisposing syndrome [RCV000576051]|Juvenile polyposis syndrome [RCV000234236]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003475829]|not provided [RCV000479945] Chr18:51058436 [GRCh38]
Chr18:48584806 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.755G>T (p.Gly252Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002429116]|Hereditary cancer-predisposing syndrome [RCV003584578]|Juvenile polyposis syndrome [RCV002229360]|not provided [RCV003237793] Chr18:51058212 [GRCh38]
Chr18:48584582 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311352]|Hereditary cancer-predisposing syndrome [RCV000572439]|Juvenile polyposis syndrome [RCV000227385]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003475828]|not specified [RCV003479073] Chr18:51054880 [GRCh38]
Chr18:48581250 [GRCh37]
Chr18:18q21.2		 benign|uncertain significance
NM_005359.6(SMAD4):c.904+14T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000662799]|Hereditary cancer-predisposing syndrome [RCV000776159]|Juvenile polyposis syndrome [RCV002057252]|not specified [RCV000235880] Chr18:51058470 [GRCh38]
Chr18:48584840 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.749A>G (p.Gln250Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558605]|not provided [RCV000236697] Chr18:51058206 [GRCh38]
Chr18:48584576 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001798876]|Familial thoracic aortic aneurysm and aortic dissection [RCV002319035]|Hereditary cancer-predisposing syndrome [RCV000773045]|Juvenile polyposis syndrome [RCV000560320]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999042]|SMAD4-related disorder [RCV003935420]|not provided [RCV001706665]|not specified [RCV000611504] Chr18:51078416 [GRCh38]
Chr18:48604786 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.697C>A (p.His233Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317326]|Hereditary cancer-predisposing syndrome [RCV003584664]|Juvenile polyposis syndrome [RCV001853818] Chr18:51058154 [GRCh38]
Chr18:48584524 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.21G>T (p.Thr7=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311926]|Hereditary cancer-predisposing syndrome [RCV000564029]|Juvenile polyposis syndrome [RCV001468093]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001086]|not specified [RCV002268196] Chr18:51047067 [GRCh38]
Chr18:48573437 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1494A>G (p.Leu498=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311912]|Hereditary cancer-predisposing syndrome [RCV000564265]|Juvenile polyposis syndrome [RCV001088585]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001083]|not provided [RCV000864936] Chr18:51078302 [GRCh38]
Chr18:48604672 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.956-4A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311858]|Hereditary cancer-predisposing syndrome [RCV000571234]|Juvenile polyposis syndrome [RCV000535985]|not provided [RCV001811038]|not specified [RCV001201303] Chr18:51065419 [GRCh38]
Chr18:48591789 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.250-3T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311947]|Juvenile polyposis syndrome [RCV001036195] Chr18:51048683 [GRCh38]
Chr18:48575053 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1128T>C (p.Ile376=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804318]|Juvenile polyposis syndrome [RCV002074180] Chr18:51065595 [GRCh38]
Chr18:48591965 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-43A>T single nucleotide variant Juvenile polyposis syndrome [RCV003316427]|not provided [RCV001668512]|not specified [RCV000244447] Chr18:51054738 [GRCh38]
Chr18:48581108 [GRCh37]
Chr18:18q21.2		 benign
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_005359.6(SMAD4):c.1532C>T (p.Pro511Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311925]|Hereditary cancer-predisposing syndrome [RCV000566945]|Juvenile polyposis syndrome [RCV001372062] Chr18:51078340 [GRCh38]
Chr18:48604710 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*334C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000281597]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000400862]|Myhre syndrome [RCV000334332] Chr18:51078801 [GRCh38]
Chr18:48605171 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*5801T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000348841]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000300345]|Myhre syndrome [RCV000394690] Chr18:51084268 [GRCh38]
Chr18:48610638 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*1812T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000334397]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000300434]|Myhre syndrome [RCV000399674] Chr18:51080279 [GRCh38]
Chr18:48606649 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.*5080A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000384387]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000282731]|Myhre syndrome [RCV000340155] Chr18:51083547 [GRCh38]
Chr18:48609917 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*2353C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000284625]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000375647]|Myhre syndrome [RCV000318595] Chr18:51080820 [GRCh38]
Chr18:48607190 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*5631AC[3] microsatellite Juvenile Polyposis [RCV000353148]|Myhre syndrome [RCV000298040]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000267734] Chr18:51084097..51084100 [GRCh38]
Chr18:48610467..48610470 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.*5546_*5547insGCAC insertion Juvenile Polyposis [RCV000377106]|Myhre syndrome [RCV000342190]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000284992] Chr18:51084012..51084013 [GRCh38]
Chr18:48610382..48610383 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2989A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000336049]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000285715]|Myhre syndrome [RCV000376546] Chr18:51081456 [GRCh38]
Chr18:48607826 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*6513C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000322797]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000377492]|Myhre syndrome [RCV000286301] Chr18:51084980 [GRCh38]
Chr18:48611350 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*2488T>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000268508]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000358749]|Myhre syndrome [RCV000308686] Chr18:51080955 [GRCh38]
Chr18:48607325 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*1179T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000343583]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000400004]|Myhre syndrome [RCV000304965]|not specified [RCV001001405] Chr18:51079646 [GRCh38]
Chr18:48606016 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*5170C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000308011]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000269799]|Myhre syndrome [RCV000365052] Chr18:51083637 [GRCh38]
Chr18:48610007 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*4643T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000333190]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000387718]|Myhre syndrome [RCV000289021] Chr18:51083110 [GRCh38]
Chr18:48609480 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*1866A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000325417]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000272732]|Myhre syndrome [RCV000363738] Chr18:51080333 [GRCh38]
Chr18:48606703 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*1864C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000364979]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000273826]|Myhre syndrome [RCV000312590] Chr18:51080331 [GRCh38]
Chr18:48606701 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*4585GA[1] microsatellite Juvenile Polyposis [RCV000386483]|Myhre syndrome [RCV000318153]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000292175] Chr18:51083051..51083054 [GRCh38]
Chr18:48609421..48609424 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*5627G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000356550]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000261609]|Myhre syndrome [RCV000311079] Chr18:51084094 [GRCh38]
Chr18:48610464 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*6492A>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000316865]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000261673]|Myhre syndrome [RCV000371448] Chr18:51084959 [GRCh38]
Chr18:48611329 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.667+3G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314055]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000635437]|Hereditary cancer-predisposing syndrome [RCV000571451]|Juvenile polyposis syndrome [RCV001328519]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000358363]|Myhre syndrome [RCV000263575]|not provided [RCV001711942] Chr18:51054996 [GRCh38]
Chr18:48581366 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.*3763C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000281497]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000395159]|Myhre syndrome [RCV000350573] Chr18:51082230 [GRCh38]
Chr18:48608600 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.*5546CA[15] microsatellite Juvenile Polyposis [RCV000365956]|Myhre syndrome [RCV000269996]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000294853] Chr18:51084013..51084014 [GRCh38]
Chr18:48610383..48610384 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*218A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000379874]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000322910]|Myhre syndrome [RCV000270148] Chr18:51078685 [GRCh38]
Chr18:48605055 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2962C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000325203]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000270180]|Myhre syndrome [RCV000388111] Chr18:51081429 [GRCh38]
Chr18:48607799 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4862A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000305615]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000401341]|Myhre syndrome [RCV000340606] Chr18:51083329 [GRCh38]
Chr18:48609699 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*3398A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000327288]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000272407]|Myhre syndrome [RCV000377200] Chr18:51081865 [GRCh38]
Chr18:48608235 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*202A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000271751]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000329252]|Myhre syndrome [RCV000362909]|Myhre syndrome [RCV002487441] Chr18:51078669 [GRCh38]
Chr18:48605039 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5546CA[20] microsatellite Juvenile Polyposis [RCV000326009]|Myhre syndrome [RCV000277960]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000370174] Chr18:51084012..51084013 [GRCh38]
Chr18:48610382..48610383 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-495C>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000380585]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000325922]|Myhre syndrome [RCV000270981] Chr18:51030256 [GRCh38]
Chr18:48556626 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5985A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000271075]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000326110]|Myhre syndrome [RCV000365756] Chr18:51084452 [GRCh38]
Chr18:48610822 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2914C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000273484]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000333540]|Myhre syndrome [RCV000368038] Chr18:51081381 [GRCh38]
Chr18:48607751 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*5691_*5693del deletion Juvenile Polyposis [RCV000273110]|Myhre syndrome [RCV000377390]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000322738] Chr18:51084156..51084158 [GRCh38]
Chr18:48610526..48610528 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.*5235C>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000321266]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000378218]|Myhre syndrome [RCV000273248] Chr18:51083702 [GRCh38]
Chr18:48610072 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*6423G>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000274830]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000329962]|Myhre syndrome [RCV000356786] Chr18:51084890 [GRCh38]
Chr18:48611260 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.*1820T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000399315]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000370712]|Myhre syndrome [RCV000313311]|not provided [RCV002510864] Chr18:51080287 [GRCh38]
Chr18:48606657 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*5131A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000390463]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000371363]|Lung cancer [RCV001528160]|Myhre syndrome [RCV000314262]|not specified [RCV001001404] Chr18:51083598 [GRCh38]
Chr18:48609968 [GRCh37]
Chr18:18q21.2		 benign|confers sensitivity
NM_005359.6(SMAD4):c.*5546CA[17] microsatellite Juvenile Polyposis [RCV000274330]|Myhre syndrome [RCV000331723]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000357422] Chr18:51084012..51084013 [GRCh38]
Chr18:48610382..48610383 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC insertion Juvenile Polyposis [RCV000279019]|Myhre syndrome [RCV000336417]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000397552] Chr18:51084012..51084013 [GRCh38]
Chr18:48610382..48610383 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5537GC[7] microsatellite Juvenile Polyposis [RCV000380973]|Myhre syndrome [RCV000333498]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000288993] Chr18:51084002..51084003 [GRCh38]
Chr18:48610372..48610373 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.87T>G (p.Gly29=) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000319108]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000260894]|Myhre syndrome [RCV000373732] Chr18:51047133 [GRCh38]
Chr18:48573503 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-333C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000282607]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000337350]|Myhre syndrome [RCV000373352] Chr18:51030418 [GRCh38]
Chr18:48556788 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1801A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000340285]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000282972]|Myhre syndrome [RCV000379812] Chr18:51080268 [GRCh38]
Chr18:48606638 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4987T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000368297]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000276001]|Myhre syndrome [RCV000333418] Chr18:51083454 [GRCh38]
Chr18:48609824 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5994A>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000362126]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000277107]|Myhre syndrome [RCV000332185] Chr18:51084461 [GRCh38]
Chr18:48610831 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.*5546CA[23] microsatellite Juvenile Polyposis [RCV000382958]|Myhre syndrome [RCV000329490]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000290910] Chr18:51084012..51084013 [GRCh38]
Chr18:48610382..48610383 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*241T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000282895]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000321548]|Myhre syndrome [RCV000373832] Chr18:51078708 [GRCh38]
Chr18:48605078 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5419T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000279406]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000336751]|Myhre syndrome [RCV000375143] Chr18:51083886 [GRCh38]
Chr18:48610256 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.-506ACA[1] microsatellite Juvenile Polyposis [RCV000328412]|Myhre syndrome [RCV000273404]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000365528] Chr18:51030243..51030245 [GRCh38]
Chr18:48556613..48556615 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5863_*5867del deletion Juvenile Polyposis [RCV000306020]|Myhre syndrome [RCV000336483]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000394597] Chr18:51084328..51084332 [GRCh38]
Chr18:48610698..48610702 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC insertion Juvenile Polyposis [RCV000401769]|Myhre syndrome [RCV000362362]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000314653] Chr18:51084012..51084013 [GRCh38]
Chr18:48610382..48610383 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC insertion Juvenile Polyposis [RCV000311117]|Myhre syndrome [RCV000368129]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000397551] Chr18:51084012..51084013 [GRCh38]
Chr18:48610382..48610383 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*850G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000320861]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000359279]|Myhre syndrome [RCV000262370] Chr18:51079317 [GRCh38]
Chr18:48605687 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5535A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000346092]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000393370]|Myhre syndrome [RCV000282968] Chr18:51084002 [GRCh38]
Chr18:48610372 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.*5551A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000384674]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000284496]|Myhre syndrome [RCV000339481] Chr18:51084018 [GRCh38]
Chr18:48610388 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5535_*5549delinsG indel Juvenile Polyposis [RCV000374313]|Myhre syndrome [RCV000316169]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000263272] Chr18:51084002..51084016 [GRCh38]
Chr18:48610372..48610386 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4991dup duplication Juvenile Polyposis [RCV000263192]|Myhre syndrome [RCV000357052]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000330016] Chr18:51083449..51083450 [GRCh38]
Chr18:48609819..48609820 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5083G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000336450]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000397506]|Myhre syndrome [RCV000286427] Chr18:51083550 [GRCh38]
Chr18:48609920 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.-3C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000304303]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000359102]|Myhre syndrome [RCV000264016] Chr18:51047044 [GRCh38]
Chr18:48573414 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3506C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000323866]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000379356]|Myhre syndrome [RCV000264017] Chr18:51081973 [GRCh38]
Chr18:48608343 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1277G>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000263833]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000297919]|Myhre syndrome [RCV000356080] Chr18:51079744 [GRCh38]
Chr18:48606114 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5546CA[14] microsatellite Juvenile Polyposis [RCV000378724]|Myhre syndrome [RCV000321809]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000264233] Chr18:51084013..51084016 [GRCh38]
Chr18:48610383..48610386 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA indel Juvenile Polyposis [RCV000308996]|Myhre syndrome [RCV000264314]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000365854] Chr18:51084002..51084012 [GRCh38]
Chr18:48610372..48610382 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1512dup duplication Juvenile Polyposis [RCV000275178]|Myhre syndrome [RCV000328042]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000385888] Chr18:51079965..51079966 [GRCh38]
Chr18:48606335..48606336 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3286A>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000362279]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000275912]|Myhre syndrome [RCV000307694] Chr18:51081753 [GRCh38]
Chr18:48608123 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4748C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000343968]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000290139]|Myhre syndrome [RCV000393398] Chr18:51083215 [GRCh38]
Chr18:48609585 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*2968del deletion Juvenile Polyposis [RCV000384711]|Myhre syndrome [RCV000340534]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000290328]|not provided [RCV003221920] Chr18:51081435 [GRCh38]
Chr18:48607805 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*1169_*1173del deletion Juvenile Polyposis [RCV000332824]|Myhre syndrome [RCV000292335]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000389730] Chr18:51079636..51079640 [GRCh38]
Chr18:48606006..48606010 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*1457C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000333823]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000355078]|Myhre syndrome [RCV000276366] Chr18:51079924 [GRCh38]
Chr18:48606294 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*685A>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000391859]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000364755]|Myhre syndrome [RCV000312370] Chr18:51079152 [GRCh38]
Chr18:48605522 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.*2693A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000394069]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000291751]|Myhre syndrome [RCV000345454] Chr18:51081160 [GRCh38]
Chr18:48607530 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*6009G>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000292350]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000386596]|Myhre syndrome [RCV000319413] Chr18:51084476 [GRCh38]
Chr18:48610846 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*2361A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000351942]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000292396]|Myhre syndrome [RCV000402411] Chr18:51080828 [GRCh38]
Chr18:48607198 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*412A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000352291]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000401751]|Myhre syndrome [RCV000294953] Chr18:51078879 [GRCh38]
Chr18:48605249 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.249+10A>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000409679]|Hereditary cancer-predisposing syndrome [RCV000771622]|Juvenile polyposis syndrome [RCV001450078]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000295030]|Myhre syndrome [RCV000389254]|not specified [RCV000427458] Chr18:51047305 [GRCh38]
Chr18:48573675 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.*2682T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000330663]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000295091]|Myhre syndrome [RCV000389468] Chr18:51081149 [GRCh38]
Chr18:48607519 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5874C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000266111]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000360694]|Myhre syndrome [RCV000302533] Chr18:51084341 [GRCh38]
Chr18:48610711 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5578G>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000400160]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000314712]|Myhre syndrome [RCV000350989] Chr18:51084045 [GRCh38]
Chr18:48610415 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*6408C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000369458]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000401737]|Myhre syndrome [RCV000314931] Chr18:51084875 [GRCh38]
Chr18:48611245 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2630A>G single nucleotide variant Juvenile Polyposis [RCV000260098]|Myhre syndrome [RCV000323626]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000355129] Chr18:51081097 [GRCh38]
Chr18:48607467 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1067G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000319786]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000261227]|Myhre syndrome [RCV000372257]|not provided [RCV003422294] Chr18:51079534 [GRCh38]
Chr18:48605904 [GRCh37]
Chr18:18q21.2		 benign|likely benign|uncertain significance
NM_005359.6(SMAD4):c.-313C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000352317]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000399867]|Myhre syndrome [RCV000278675] Chr18:51030438 [GRCh38]
Chr18:48556808 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2354G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000395388]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000336266]|Myhre syndrome [RCV000278831] Chr18:51080821 [GRCh38]
Chr18:48607191 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4378T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000317028]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000263009]|Myhre syndrome [RCV000353160] Chr18:51082845 [GRCh38]
Chr18:48609215 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*2796G>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000262799]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000299210]|Myhre syndrome [RCV000353100] Chr18:51081263 [GRCh38]
Chr18:48607633 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*30A>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000298729]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000369760]|Myhre syndrome [RCV000399233] Chr18:51078497 [GRCh38]
Chr18:48604867 [GRCh37]
Chr18:18q21.2		 benign|likely benign|uncertain significance
NM_005359.6(SMAD4):c.*5545G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000390247]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000353106]|Myhre syndrome [RCV000300141] Chr18:51084012 [GRCh38]
Chr18:48610382 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5096C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000349160]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000301241]|Myhre syndrome [RCV000397501] Chr18:51083563 [GRCh38]
Chr18:48609933 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-128+12A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000362423]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000267847]|Myhre syndrome [RCV000307763]|not specified [RCV000613032] Chr18:51030635 [GRCh38]
Chr18:48557005 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.*5546CA[13] microsatellite Juvenile Polyposis [RCV000316082]|Myhre syndrome [RCV000373072]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000267928] Chr18:51084013..51084018 [GRCh38]
Chr18:48610383..48610388 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG indel Juvenile Polyposis [RCV000268010]|Myhre syndrome [RCV000360254]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000303214] Chr18:51084002..51084014 [GRCh38]
Chr18:48610372..48610384 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*837A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000360514]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000306685]|Myhre syndrome [RCV000268169] Chr18:51079304 [GRCh38]
Chr18:48605674 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*6057G>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000334674]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000374051]|Myhre syndrome [RCV000279595] Chr18:51084524 [GRCh38]
Chr18:48610894 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2122A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000324419]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000376733]|Myhre syndrome [RCV000266790] Chr18:51080589 [GRCh38]
Chr18:48606959 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*4085C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000358429]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000303680]|Myhre syndrome [RCV000268368] Chr18:51082552 [GRCh38]
Chr18:48608922 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3638T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000335213]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000375766]|Myhre syndrome [RCV000280172] Chr18:51082105 [GRCh38]
Chr18:48608475 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5259A>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000267306]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000372327]|Myhre syndrome [RCV000324662] Chr18:51083726 [GRCh38]
Chr18:48610096 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*1187A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000343445]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000303877]|Myhre syndrome [RCV000400973] Chr18:51079654 [GRCh38]
Chr18:48606024 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAA insertion Abnormal bleeding [RCV001270577] Chr18:51058457..51058458 [GRCh38]
Chr18:48584827..48584828 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1392del (p.Val465fs) deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV001269114] Chr18:51076720 [GRCh38]
Chr18:48603090 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.777T>C (p.Thr259=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311942] Chr18:51058234 [GRCh38]
Chr18:48584604 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.715_717dup (p.Gln239_Ile240insGln) duplication not provided [RCV002280057] Chr18:51058170..51058171 [GRCh38]
Chr18:48584540..48584541 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.63T>C (p.His21=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003160110]|not specified [RCV000606569] Chr18:51047109 [GRCh38]
Chr18:48573479 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.50_51del (p.Leu17fs) deletion Myhre syndrome [RCV003314204] Chr18:51047096..51047097 [GRCh38]
Chr18:48573466..48573467 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.*1177G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000291091]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000383126]|Myhre syndrome [RCV000349572] Chr18:51079644 [GRCh38]
Chr18:48606014 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2707_*2711del deletion Juvenile Polyposis [RCV000346667]|Myhre syndrome [RCV000302424]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000390407] Chr18:51081172..51081176 [GRCh38]
Chr18:48607542..48607546 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5535_*5540del deletion Juvenile Polyposis [RCV000343735]|Myhre syndrome [RCV000314612]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000398441] Chr18:51083998..51084003 [GRCh38]
Chr18:48610368..48610373 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5530T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000395270]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000292397]|Myhre syndrome [RCV000349430] Chr18:51083997 [GRCh38]
Chr18:48610367 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3843G>A single nucleotide variant Juvenile Polyposis [RCV000351195]|Myhre syndrome [RCV000315531]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000399595] Chr18:51082310 [GRCh38]
Chr18:48608680 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5537GC[4] microsatellite Juvenile Polyposis [RCV000340335]|Myhre syndrome [RCV000305296]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000393357] Chr18:51084003..51084004 [GRCh38]
Chr18:48610373..48610374 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5791C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000388674]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000293936]|Myhre syndrome [RCV000352758] Chr18:51084258 [GRCh38]
Chr18:48610628 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2674A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000374797]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000294320]|Myhre syndrome [RCV000320213] Chr18:51081141 [GRCh38]
Chr18:48607511 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3878dup duplication Juvenile Polyposis [RCV000306921]|Myhre syndrome [RCV000400362]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000366283] Chr18:51082338..51082339 [GRCh38]
Chr18:48608708..48608709 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*2461C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000391785]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000307595]|Myhre syndrome [RCV000362188] Chr18:51080928 [GRCh38]
Chr18:48607298 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*6158GATT[1] microsatellite Juvenile Polyposis [RCV000340717]|Myhre syndrome [RCV000397546]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000285795]|not provided [RCV003221921] Chr18:51084625..51084628 [GRCh38]
Chr18:48610995..48610998 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.-476C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000322289]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000377038]|Myhre syndrome [RCV000286044] Chr18:51030275 [GRCh38]
Chr18:48556645 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4867dup duplication Juvenile Polyposis [RCV000297466]|Myhre syndrome [RCV000390197]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000360337] Chr18:51083333..51083334 [GRCh38]
Chr18:48609703..48609704 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*6353del deletion Juvenile Polyposis [RCV000397556]|Myhre syndrome [RCV000309099]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000363824] Chr18:51084818 [GRCh38]
Chr18:48611188 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*2793T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000361182]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000298169]|Myhre syndrome [RCV000390127] Chr18:51081260 [GRCh38]
Chr18:48607630 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.5(SMAD4):c.*6586C>T single nucleotide variant Juvenile Polyposis [RCV000271879]|Myhre syndrome [RCV000329337]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000364061] Chr18:51085053 [GRCh38]
Chr18:48611423 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.5(SMAD4):c.*6588C>G single nucleotide variant Juvenile Polyposis [RCV000332033]|Myhre syndrome [RCV000274645]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000386254] Chr18:51085055 [GRCh38]
Chr18:48611425 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315231]|Juvenile polyposis syndrome [RCV002233900]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004025257] Chr18:51067188 [GRCh38]
Chr18:48593558 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.*1564_*1567del deletion Juvenile Polyposis [RCV000384872]|Myhre syndrome [RCV000288263]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000345613] Chr18:51080028..51080031 [GRCh38]
Chr18:48606398..48606401 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5757dup duplication Juvenile Polyposis [RCV000288426]|Myhre syndrome [RCV000328136]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000382825] Chr18:51084214..51084215 [GRCh38]
Chr18:48610584..48610585 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5004_*5005dup duplication Juvenile Polyposis [RCV000288742]|Myhre syndrome [RCV000380932]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000327515] Chr18:51083461..51083462 [GRCh38]
Chr18:48609831..48609832 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3186T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000399100]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000311240]|Myhre syndrome [RCV000370535] Chr18:51081653 [GRCh38]
Chr18:48608023 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*81T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000311537]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000368742]|Myhre syndrome [RCV000407020] Chr18:51078548 [GRCh38]
Chr18:48604918 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5576C>G single nucleotide variant Juvenile Polyposis [RCV000345230]|Myhre syndrome [RCV000290234]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000397128] Chr18:51084043 [GRCh38]
Chr18:48610413 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3109T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000337346]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000301057]|Myhre syndrome [RCV000400607] Chr18:51081576 [GRCh38]
Chr18:48607946 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-233G>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000407675]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000348969]|Myhre syndrome [RCV000312940] Chr18:51030518 [GRCh38]
Chr18:48556888 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.45C>T (p.Ala15=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582175]|Juvenile polyposis syndrome [RCV003762808] Chr18:51047091 [GRCh38]
Chr18:48573461 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.877C>T (p.Pro293Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583802] Chr18:51058429 [GRCh38]
Chr18:48584799 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.27A>G (p.Thr9=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559246]|Hereditary cancer-predisposing syndrome [RCV000583922]|Juvenile polyposis syndrome [RCV001486279] Chr18:51047073 [GRCh38]
Chr18:48573443 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140-17del deletion Hereditary cancer-predisposing syndrome [RCV000583954] Chr18:51067000 [GRCh38]
Chr18:48593370 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.470T>C (p.Met157Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319047]|Juvenile polyposis syndrome [RCV001039892]|SMAD4-related disorder [RCV003392425]|not provided [RCV000587176]|not specified [RCV003321692] Chr18:51054796 [GRCh38]
Chr18:48581166 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.752A>G (p.Asn251Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579897]|Juvenile polyposis syndrome [RCV003596044] Chr18:51058209 [GRCh38]
Chr18:48584579 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.10:g.(?_51065417)_(51067193_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000549633]|Juvenile polyposis syndrome [RCV001382025] Chr18:51065417..51067193 [GRCh38]
Chr18:48591787..48593563 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1440A>G (p.Pro480=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311935] Chr18:51076769 [GRCh38]
Chr18:48603139 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.787+21dup duplication Hereditary cancer-predisposing syndrome [RCV000582405]|Juvenile polyposis syndrome [RCV002061941] Chr18:51058259..51058260 [GRCh38]
Chr18:48584629..48584630 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.956-19T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584082]|Juvenile polyposis syndrome [RCV002061943] Chr18:51065404 [GRCh38]
Chr18:48591774 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.927A>C (p.Ala309=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002377204]|Hereditary cancer-predisposing syndrome [RCV000583989]|Juvenile polyposis syndrome [RCV003596047] Chr18:51059888 [GRCh38]
Chr18:48586258 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-6C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584134]|Juvenile polyposis syndrome [RCV000635413] Chr18:51058119 [GRCh38]
Chr18:48584489 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.750G>A (p.Gln250=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002395502]|Hereditary cancer-predisposing syndrome [RCV000584169]|Juvenile polyposis syndrome [RCV002232554] Chr18:51058207 [GRCh38]
Chr18:48584577 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+45dup duplication not provided [RCV001653936]|not specified [RCV000584195] Chr18:51058485..51058486 [GRCh38]
Chr18:48584855..48584856 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.1525T>G (p.Trp509Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584198] Chr18:51078333 [GRCh38]
Chr18:48604703 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.792C>T (p.Ser264=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420553]|Hereditary cancer-predisposing syndrome [RCV000582438]|Juvenile polyposis syndrome [RCV002232715]|not specified [RCV000604225] Chr18:51058344 [GRCh38]
Chr18:48584714 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+45del deletion not provided [RCV001653935]|not specified [RCV000582477] Chr18:51058486 [GRCh38]
Chr18:48584856 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.179C>T (p.Ala60Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582556] Chr18:51047225 [GRCh38]
Chr18:48573595 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+14G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584230]|Juvenile polyposis syndrome [RCV002065114] Chr18:51047309 [GRCh38]
Chr18:48573679 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.787+18A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584322] Chr18:51058262 [GRCh38]
Chr18:48584632 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.741A>G (p.Gly247=) single nucleotide variant not specified [RCV000598813] Chr18:51058198 [GRCh38]
Chr18:48584568 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.319A>G (p.Asn107Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311922] Chr18:51048755 [GRCh38]
Chr18:48575125 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.779A>C (p.Tyr260Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580642] Chr18:51058236 [GRCh38]
Chr18:48584606 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+16dup duplication Hereditary cancer-predisposing syndrome [RCV000582628]|Juvenile polyposis syndrome [RCV002065117] Chr18:51058467..51058468 [GRCh38]
Chr18:48584837..48584838 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.919G>A (p.Glu307Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582712]|Juvenile polyposis syndrome [RCV003596046] Chr18:51059880 [GRCh38]
Chr18:48586250 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-11T>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000663204]|Hereditary cancer-predisposing syndrome [RCV000582717]|Juvenile polyposis syndrome [RCV002061938]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316772] Chr18:51067008 [GRCh38]
Chr18:48593378 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.*1G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582646] Chr18:51078468 [GRCh38]
Chr18:48604838 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.829A>G (p.Thr277Ala) single nucleotide variant Juvenile polyposis syndrome [RCV001853988]|not provided [RCV000588293] Chr18:51058381 [GRCh38]
Chr18:48584751 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.298A>C (p.Arg100=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311908]|Generalized juvenile polyposis/juvenile polyposis coli [RCV001126988]|Hereditary cancer-predisposing syndrome [RCV000568563]|Juvenile polyposis syndrome [RCV001479449]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001126989]|Myhre syndrome [RCV001126990] Chr18:51048734 [GRCh38]
Chr18:48575104 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.715C>G (p.Gln239Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002413658]|Hereditary cancer-predisposing syndrome [RCV000581018]|Juvenile polyposis syndrome [RCV001215710]|SMAD4-related disorder [RCV003983132] Chr18:51058172 [GRCh38]
Chr18:48584542 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+12A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582759]|Juvenile polyposis syndrome [RCV003767314] Chr18:51055005 [GRCh38]
Chr18:48581375 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+16A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582811]|Juvenile polyposis syndrome [RCV002529282] Chr18:51076792 [GRCh38]
Chr18:48603162 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+20C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584555]|Juvenile polyposis syndrome [RCV002061940] Chr18:51049344 [GRCh38]
Chr18:48575714 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1299A>G (p.Ala433=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002384279]|Hereditary cancer-predisposing syndrome [RCV000584564]|Juvenile polyposis syndrome [RCV000635507] Chr18:51067178 [GRCh38]
Chr18:48593548 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1173T>C (p.Cys391=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584488] Chr18:51067052 [GRCh38]
Chr18:48593422 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317332]|Hereditary cancer-predisposing syndrome [RCV000581150]|Juvenile polyposis syndrome [RCV001430013]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002376]|not provided [RCV000586918]|not specified [RCV000855565] Chr18:51076682 [GRCh38]
Chr18:48603052 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.716A>T (p.Gln239Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582942] Chr18:51058173 [GRCh38]
Chr18:48584543 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668-19T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582898]|Juvenile polyposis syndrome [RCV001853942] Chr18:51058106 [GRCh38]
Chr18:48584476 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.956-7C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000663316]|Hereditary cancer-predisposing syndrome [RCV000584567]|Juvenile polyposis syndrome [RCV001495387] Chr18:51065416 [GRCh38]
Chr18:48591786 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+4A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584689]|Juvenile polyposis syndrome [RCV001367440]|not provided [RCV003226953] Chr18:51067191 [GRCh38]
Chr18:48593561 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1485T>G (p.Leu495=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319044]|Hereditary cancer-predisposing syndrome [RCV000581284]|Juvenile polyposis syndrome [RCV003762807] Chr18:51078293 [GRCh38]
Chr18:48604663 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-11T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581234]|Juvenile polyposis syndrome [RCV002530805]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002380]|not provided [RCV001546100] Chr18:51058114 [GRCh38]
Chr18:48584484 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.768G>A (p.Gln256=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002431735]|Hereditary cancer-predisposing syndrome [RCV000583101]|Juvenile polyposis syndrome [RCV000936121] Chr18:51058225 [GRCh38]
Chr18:48584595 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.325C>T (p.Leu109=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002448813]|Hereditary cancer-predisposing syndrome [RCV000583193]|Juvenile polyposis syndrome [RCV000912843]|not provided [RCV003478318] Chr18:51048761 [GRCh38]
Chr18:48575131 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.788-14G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583194]|Juvenile polyposis syndrome [RCV002061942]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002382]|not specified [RCV000602529] Chr18:51058326 [GRCh38]
Chr18:48584696 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.49C>T (p.Leu17=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002341502]|Juvenile polyposis syndrome [RCV000635509]|not specified [RCV000589196] Chr18:51047095 [GRCh38]
Chr18:48573465 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.75C>T (p.Cys25=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311927]|Juvenile polyposis syndrome [RCV000976843] Chr18:51047121 [GRCh38]
Chr18:48573491 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002315867]|Juvenile polyposis syndrome [RCV001047958]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV002251490] Chr18:51065489 [GRCh38]
Chr18:48591859 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.904+29A>T single nucleotide variant not specified [RCV000581257] Chr18:51058485 [GRCh38]
Chr18:48584855 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.425-17C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583273]|Juvenile polyposis syndrome [RCV002065116]|not provided [RCV003736830] Chr18:51049278 [GRCh38]
Chr18:48575648 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000588508]|Juvenile polyposis syndrome [RCV001376571] Chr18:51067149..51067150 [GRCh38]
Chr18:48593519..48593520 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1610A>G (p.Asp537Gly) single nucleotide variant Colorectal cancer [RCV000626452]|Juvenile polyposis syndrome [RCV002232772] Chr18:51078418 [GRCh38]
Chr18:48604788 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.519C>T (p.Ser173=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319045]|Hereditary cancer-predisposing syndrome [RCV000581491]|Juvenile polyposis syndrome [RCV001472123] Chr18:51054845 [GRCh38]
Chr18:48581215 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.644C>G (p.Pro215Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367981]|Hereditary cancer-predisposing syndrome [RCV000581527]|Juvenile polyposis syndrome [RCV001860101]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004568298] Chr18:51054970 [GRCh38]
Chr18:48581340 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+11A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583452]|Juvenile polyposis syndrome [RCV002061939] Chr18:51067198 [GRCh38]
Chr18:48593568 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.594A>C (p.Pro198=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002358641]|Hereditary cancer-predisposing syndrome [RCV000583454]|Juvenile polyposis syndrome [RCV001396640]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002379] Chr18:51054920 [GRCh38]
Chr18:48581290 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140-3A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002330998]|Hereditary cancer-predisposing syndrome [RCV000581597]|Juvenile polyposis syndrome [RCV000635480]|not specified [RCV000780716] Chr18:51067016 [GRCh38]
Chr18:48593386 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.955+25_955+43del deletion Hereditary cancer-predisposing syndrome [RCV000581616]|Juvenile polyposis syndrome [RCV003762809] Chr18:51059933..51059951 [GRCh38]
Chr18:48586303..48586321 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315877]|Hereditary cancer-predisposing syndrome [RCV000581665]|Juvenile polyposis syndrome [RCV001465404]|not provided [RCV003236820] Chr18:51067142 [GRCh38]
Chr18:48593512 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.700A>G (p.Ser234Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581708]|Juvenile polyposis syndrome [RCV003596045]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003471932]|not provided [RCV003478319] Chr18:51058157 [GRCh38]
Chr18:48584527 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1309-16T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583530] Chr18:51076622 [GRCh38]
Chr18:48602992 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.249+24A>G single nucleotide variant not provided [RCV001552179]|not specified [RCV000583543] Chr18:51047319 [GRCh38]
Chr18:48573689 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs) duplication Juvenile polyposis syndrome [RCV000635477] Chr18:51076734..51076735 [GRCh38]
Chr18:48603104..48603105 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.975C>T (p.Ser325=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002438517]|Hereditary cancer-predisposing syndrome [RCV000581740]|Juvenile polyposis syndrome [RCV000935585] Chr18:51065442 [GRCh38]
Chr18:48591812 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.756A>G (p.Gly252=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002431734]|Hereditary cancer-predisposing syndrome [RCV000581784]|Juvenile polyposis syndrome [RCV000865944]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002381]|not provided [RCV001537083]|not specified [RCV002268214] Chr18:51058213 [GRCh38]
Chr18:48584583 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1473T>C (p.Gly491=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583643]|Juvenile polyposis syndrome [RCV001460937]|not specified [RCV000780718] Chr18:51078281 [GRCh38]
Chr18:48604651 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.-15G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583737]|not specified [RCV000601895] Chr18:51047032 [GRCh38]
Chr18:48573402 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1139+13T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581915]|Juvenile polyposis syndrome [RCV002061937] Chr18:51065619 [GRCh38]
Chr18:48591989 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1124C>T (p.Ala375Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002438516]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000810369]|Hereditary cancer-predisposing syndrome [RCV000583871]|Juvenile polyposis syndrome [RCV001312207]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125431]|Myhre syndrome [RCV001125430]|not provided [RCV001770536] Chr18:51065591 [GRCh38]
Chr18:48591961 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.115delinsAA (p.Ala39fs) indel not provided [RCV000592029] Chr18:51047161 [GRCh38]
Chr18:48573531 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.424+6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559247]|Hereditary cancer-predisposing syndrome [RCV000582033]|Juvenile polyposis syndrome [RCV000806604]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002378]|not specified [RCV000608629] Chr18:51048866 [GRCh38]
Chr18:48575236 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.250-14G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581913]|Juvenile polyposis syndrome [RCV002065115]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002377] Chr18:51048672 [GRCh38]
Chr18:48575042 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1403A>G (p.Asn468Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315873]|Hereditary cancer-predisposing syndrome [RCV000569973]|Juvenile polyposis syndrome [RCV001069022] Chr18:51076732 [GRCh38]
Chr18:48603102 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.119T>C (p.Ile40Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002345873]|Juvenile polyposis syndrome [RCV000816851]|not provided [RCV003141839] Chr18:51047165 [GRCh38]
Chr18:48573535 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.503G>A (p.Gly168Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311949]|Juvenile polyposis syndrome [RCV003767205] Chr18:51054829 [GRCh38]
Chr18:48581199 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-3C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315866]|Hereditary cancer-predisposing syndrome [RCV000571774]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001131]|not provided [RCV003480702]|not specified [RCV000781853] Chr18:51047044 [GRCh38]
Chr18:48573414 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.463A>G (p.Ser155Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318371]|Hereditary cancer-predisposing syndrome [RCV000563891]|Juvenile polyposis syndrome [RCV002524680]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV000415677] Chr18:51054789 [GRCh38]
Chr18:48581159 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.39T>C (p.Asn13=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317320]|Hereditary cancer-predisposing syndrome [RCV000573839]|Juvenile polyposis syndrome [RCV000936361]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001203] Chr18:51047085 [GRCh38]
Chr18:48573455 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311943]|Hereditary cancer-predisposing syndrome [RCV000573873]|Juvenile polyposis syndrome [RCV000705291]|not provided [RCV002259353]|not specified [RCV000780719] Chr18:51054797 [GRCh38]
Chr18:48581167 [GRCh37]
Chr18:18q21.2		 benign|likely benign|uncertain significance
NM_005359.6(SMAD4):c.556C>G (p.Pro186Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311933]|Juvenile polyposis syndrome [RCV002232142]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001088] Chr18:51054882 [GRCh38]
Chr18:48581252 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.651T>A (p.Ile217=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367807]|Juvenile polyposis syndrome [RCV002231365] Chr18:51054977 [GRCh38]
Chr18:48581347 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314972]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000530327]|Hereditary cancer-predisposing syndrome [RCV000581754]|Juvenile polyposis syndrome [RCV001391329]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123419]|Myhre syndrome [RCV001123418]|not specified [RCV000604219] Chr18:51078353 [GRCh38]
Chr18:48604723 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.945C>T (p.Ser315=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311941]|Hereditary cancer-predisposing syndrome [RCV000573532]|Juvenile polyposis syndrome [RCV001078555] Chr18:51059906 [GRCh38]
Chr18:48586276 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys) single nucleotide variant Juvenile polyposis syndrome [RCV001370335]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001262035]|not provided [RCV000734063] Chr18:51065525 [GRCh38]
Chr18:48591895 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.1140-10T>A single nucleotide variant Juvenile polyposis syndrome [RCV002231354] Chr18:51067009 [GRCh38]
Chr18:48593379 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1201dup (p.Cys401fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002317324]|Juvenile polyposis syndrome [RCV002526926] Chr18:51067079..51067080 [GRCh38]
Chr18:48593449..48593450 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002317328] Chr18:51067118..51067120 [GRCh38]
Chr18:48593488..48593490 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.62A>G (p.His21Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311919]|Juvenile polyposis syndrome [RCV002528944] Chr18:51047108 [GRCh38]
Chr18:48573478 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.390A>G (p.Pro130=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319037]|Hereditary cancer-predisposing syndrome [RCV001021412]|Juvenile polyposis syndrome [RCV000539395]|not provided [RCV001800741]|not specified [RCV000590505] Chr18:51048826 [GRCh38]
Chr18:48575196 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.147G>A (p.Glu49=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311915] Chr18:51047193 [GRCh38]
Chr18:48573563 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.789C>T (p.Asn263=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311920]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000635500]|Hereditary cancer-predisposing syndrome [RCV000571444]|Juvenile polyposis syndrome [RCV001420983]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124421]|Myhre syndrome [RCV001124422] Chr18:51058341 [GRCh38]
Chr18:48584711 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.650T>G (p.Ile217Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315871] Chr18:51054976 [GRCh38]
Chr18:48581346 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.885G>A (p.Pro295=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311909]|Hereditary cancer-predisposing syndrome [RCV000574603]|Juvenile polyposis syndrome [RCV000635495]|not provided [RCV003478265]|not specified [RCV000603480] Chr18:51058437 [GRCh38]
Chr18:48584807 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1501C>A (p.Leu501Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311937] Chr18:51078309 [GRCh38]
Chr18:48604679 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.573G>A (p.Ser191=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311940]|Hereditary cancer-predisposing syndrome [RCV000568265]|Juvenile polyposis syndrome [RCV000635508]|not provided [RCV000759348] Chr18:51054899 [GRCh38]
Chr18:48581269 [GRCh37]
Chr18:18q21.2		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318979]|Generalized juvenile polyposis/juvenile polyposis coli [RCV001084748]|Hereditary cancer-predisposing syndrome [RCV000579788]|Juvenile polyposis syndrome [RCV001391325]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123417]|Myhre syndrome [RCV001123416]|not provided [RCV000679586]|not specified [RCV000427335] Chr18:51078300 [GRCh38]
Chr18:48604670 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.1533G>A (p.Pro511=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311505]|Hereditary cancer-predisposing syndrome [RCV000568997]|Juvenile polyposis syndrome [RCV000635527]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000555]|not specified [RCV000437684] Chr18:51078341 [GRCh38]
Chr18:48604711 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311458]|Hereditary cancer-predisposing syndrome [RCV000566093]|Juvenile polyposis syndrome [RCV001086982]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003996043]|not provided [RCV000587852]|not specified [RCV000437773] Chr18:51054908 [GRCh38]
Chr18:48581278 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.144G>A (p.Lys48=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318980]|Hereditary cancer-predisposing syndrome [RCV001011646]|Juvenile polyposis syndrome [RCV001394956]|not specified [RCV000437825] Chr18:51047190 [GRCh38]
Chr18:48573560 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.510A>G (p.Pro170=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002339054]|Hereditary cancer-predisposing syndrome [RCV000579498]|Juvenile polyposis syndrome [RCV001476545]|not specified [RCV000441419] Chr18:51054836 [GRCh38]
Chr18:48581206 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1051G>A (p.Asp351Asn) single nucleotide variant Neoplasm of the large intestine [RCV000444906] Chr18:51065518 [GRCh38]
Chr18:48591888 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1609G>T (p.Asp537Tyr) single nucleotide variant Neoplasm of the large intestine [RCV000444970] Chr18:51078417 [GRCh38]
Chr18:48604787 [GRCh37]
Chr18:18q21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.411A>G (p.Val137=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002323591]|Hereditary cancer-predisposing syndrome [RCV001188669]|Juvenile polyposis syndrome [RCV000635501]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003995987]|not provided [RCV001703498] Chr18:51048847 [GRCh38]
Chr18:48575217 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.989A>C (p.Glu330Ala) single nucleotide variant Neoplasm of the large intestine [RCV000434490] Chr18:51065456 [GRCh38]
Chr18:48591826 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.956-5T>C single nucleotide variant not specified [RCV000441647] Chr18:51065418 [GRCh38]
Chr18:48591788 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.954T>C (p.Pro318=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002429418]|Hereditary cancer-predisposing syndrome [RCV001019481]|Juvenile polyposis syndrome [RCV001087625]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000472]|not provided [RCV000417972] Chr18:51059915 [GRCh38]
Chr18:48586285 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.486T>C (p.Tyr162=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318981]|Hereditary cancer-predisposing syndrome [RCV001023178]|Juvenile polyposis syndrome [RCV000530921]|SMAD4-related disorder [RCV003925293]|not specified [RCV000434922] Chr18:51054812 [GRCh38]
Chr18:48581182 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-127-3T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257674]|not provided [RCV001703717] Chr18:51046917 [GRCh38]
Chr18:48573287 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.366A>G (p.Lys122=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002451053]|Hereditary cancer-predisposing syndrome [RCV000579520]|Juvenile polyposis syndrome [RCV000696232]|not provided [RCV001721482] Chr18:51048802 [GRCh38]
Chr18:48575172 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1308+9C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582278]|Juvenile polyposis syndrome [RCV000871265]|not specified [RCV000438629] Chr18:51067196 [GRCh38]
Chr18:48593566 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1611C>T (p.Asp537=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318398]|Hereditary cancer-predisposing syndrome [RCV000569140]|Juvenile polyposis syndrome [RCV000465694]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003996010]|not provided [RCV001703530] Chr18:51078419 [GRCh38]
Chr18:48604789 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys) single nucleotide variant Carcinoma of esophagus [RCV000421325]|Gastric adenocarcinoma [RCV000421536]|Lung adenocarcinoma [RCV000444559]|Neoplasm of the large intestine [RCV000439155]|Pancreatic adenocarcinoma [RCV000431585]|Prostate adenocarcinoma [RCV000434360] Chr18:51067035 [GRCh38]
Chr18:48593405 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.-133G>A single nucleotide variant not specified [RCV000428480] Chr18:51030618 [GRCh38]
Chr18:48556988 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.876G>A (p.Pro292=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002374637]|Generalized juvenile polyposis/juvenile polyposis coli [RCV001125427]|Hereditary cancer-predisposing syndrome [RCV000579563]|Juvenile polyposis syndrome [RCV001477273]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125429]|Myhre syndrome [RCV001125428]|not specified [RCV000435398] Chr18:51058428 [GRCh38]
Chr18:48584798 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.132A>G (p.Val44=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318418]|Hereditary cancer-predisposing syndrome [RCV001011069]|Juvenile polyposis syndrome [RCV000475068]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000374]|not provided [RCV001720151] Chr18:51047178 [GRCh38]
Chr18:48573548 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.1014A>G (p.Thr338=) single nucleotide variant Juvenile polyposis syndrome [RCV002521547]|not specified [RCV000442432] Chr18:51065481 [GRCh38]
Chr18:48591851 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.787+15T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579600]|Juvenile polyposis syndrome [RCV002061521]|not provided [RCV003736760]|not specified [RCV000428677] Chr18:51058259 [GRCh38]
Chr18:48584629 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1065C>A (p.Asp355Glu) single nucleotide variant Neoplasm of the large intestine [RCV000435575] Chr18:51065532 [GRCh38]
Chr18:48591902 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.60G>A (p.Val20=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002356533]|Juvenile polyposis syndrome [RCV001447520]|not specified [RCV000425164] Chr18:51047106 [GRCh38]
Chr18:48573476 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.955+15A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580374]|Juvenile polyposis syndrome [RCV001851083]|not specified [RCV000439205] Chr18:51059931 [GRCh38]
Chr18:48586301 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311755]|Hereditary cancer-predisposing syndrome [RCV000568719]|Juvenile polyposis syndrome [RCV000545492]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000594]|Myhre syndrome [RCV002506083]|SMAD4-related disorder [RCV003401439]|not provided [RCV000419383] Chr18:51047201 [GRCh38]
Chr18:48573571 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1641C>T (p.Asp547=) single nucleotide variant Juvenile polyposis syndrome [RCV001501827]|SMAD4-related disorder [RCV003897918]|not specified [RCV000435895] Chr18:51078449 [GRCh38]
Chr18:48604819 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140-4T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002450983]|Juvenile polyposis syndrome [RCV001484798]|not specified [RCV000419460] Chr18:51067015 [GRCh38]
Chr18:48593385 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1236C>T (p.Tyr412=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002365528]|Hereditary cancer-predisposing syndrome [RCV001177837]|Juvenile polyposis syndrome [RCV001497656]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000431]|not specified [RCV000432565] Chr18:51067115 [GRCh38]
Chr18:48593485 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.250-15C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000771442]|Juvenile polyposis syndrome [RCV002061520]|not provided [RCV000679588] Chr18:51048671 [GRCh38]
Chr18:48575041 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-28T>C single nucleotide variant not specified [RCV000432908] Chr18:51047019 [GRCh38]
Chr18:48573389 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*12G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001127626]|Hereditary cancer-predisposing syndrome [RCV000579871]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127625]|Myhre syndrome [RCV001127627]|not specified [RCV000443565] Chr18:51078479 [GRCh38]
Chr18:48604849 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.-11A>C single nucleotide variant not specified [RCV000443696] Chr18:51047036 [GRCh38]
Chr18:48573406 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.387T>C (p.Asn129=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311498]|Hereditary cancer-predisposing syndrome [RCV000572770]|Juvenile polyposis syndrome [RCV001443929]|not specified [RCV000443721] Chr18:51048823 [GRCh38]
Chr18:48575193 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+20G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188670]|Juvenile polyposis syndrome [RCV002063601]|not specified [RCV000422661] Chr18:51055013 [GRCh38]
Chr18:48581383 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-8C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185750]|Juvenile polyposis syndrome [RCV000874678]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003996003]|not specified [RCV000429769] Chr18:51054773 [GRCh38]
Chr18:48581143 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.963G>A (p.Glu321=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002374698]|Hereditary cancer-predisposing syndrome [RCV001525403]|Juvenile polyposis syndrome [RCV001440114]|not specified [RCV000436629] Chr18:51065430 [GRCh38]
Chr18:48591800 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala) single nucleotide variant Carcinoma of esophagus [RCV000434611]|Gastric adenocarcinoma [RCV000426807]|Lung adenocarcinoma [RCV000418499]|Neoplasm of the large intestine [RCV000444422]|Pancreatic adenocarcinoma [RCV000437033]|Prostate adenocarcinoma [RCV000427832] Chr18:51067036 [GRCh38]
Chr18:48593406 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1082G>C (p.Arg361Pro) single nucleotide variant Breast neoplasm [RCV000432335]|Carcinoma of esophagus [RCV000422756]|Gastric adenocarcinoma [RCV000426902]|Lung adenocarcinoma [RCV000445044]|Neoplasm of the large intestine [RCV000434531]|Neoplasm of uterine cervix [RCV000423850]|Pancreatic adenocarcinoma [RCV000441763]|Squamous cell carcinoma of the head and neck [RCV000433435] Chr18:51065549 [GRCh38]
Chr18:48591919 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.667+17G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579818]|Juvenile polyposis syndrome [RCV002062318]|not specified [RCV000426286] Chr18:51055010 [GRCh38]
Chr18:48581380 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-39T>A single nucleotide variant not provided [RCV000767314]|not specified [RCV000440329] Chr18:51047008 [GRCh38]
Chr18:48573378 [GRCh37]
Chr18:18q21.2		 likely benign|not provided
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser) single nucleotide variant Carcinoma of esophagus [RCV000419978]|Gastric adenocarcinoma [RCV000439617]|Lung adenocarcinoma [RCV000421895]|Neoplasm of the large intestine [RCV000430240]|Pancreatic adenocarcinoma [RCV000429536]|Prostate adenocarcinoma [RCV000439753] Chr18:51067035 [GRCh38]
Chr18:48593405 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.667+9T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000462300]|Hereditary cancer-predisposing syndrome [RCV000581062]|Juvenile polyposis syndrome [RCV001420992]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316528]|SMAD4-related disorder [RCV003922716]|not specified [RCV000420161] Chr18:51055002 [GRCh38]
Chr18:48581372 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.1140-16C>A single nucleotide variant Juvenile polyposis syndrome [RCV003595972]|not specified [RCV000430468] Chr18:51067003 [GRCh38]
Chr18:48593373 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.126T>C (p.Ser42=) single nucleotide variant Juvenile polyposis syndrome [RCV000528521]|not specified [RCV000420387] Chr18:51047172 [GRCh38]
Chr18:48573542 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val) single nucleotide variant Carcinoma of esophagus [RCV000430022]|Gastric adenocarcinoma [RCV000436766]|Lung adenocarcinoma [RCV000438138]|Neoplasm of the large intestine [RCV000427058]|Pancreatic adenocarcinoma [RCV000443924]|Prostate adenocarcinoma [RCV000420512] Chr18:51067036 [GRCh38]
Chr18:48593406 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.424+14G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183961]|not specified [RCV000423539] Chr18:51048874 [GRCh38]
Chr18:48575244 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.261G>A (p.Arg87=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311461]|Hereditary cancer-predisposing syndrome [RCV000575456]|Juvenile polyposis syndrome [RCV002230244]|SMAD4-related disorder [RCV003972593]|not provided [RCV001720058] Chr18:51048697 [GRCh38]
Chr18:48575067 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1051G>C (p.Asp351His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002402119]|Neoplasm of the large intestine [RCV000427066] Chr18:51065518 [GRCh38]
Chr18:48591888 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1395G>A (p.Val465=) single nucleotide variant not specified [RCV000434001] Chr18:51076724 [GRCh38]
Chr18:48603094 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-135G>A single nucleotide variant not specified [RCV000437409] Chr18:51030616 [GRCh38]
Chr18:48556986 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-20A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581395]|not specified [RCV000444837] Chr18:51047027 [GRCh38]
Chr18:48573397 [GRCh37]
Chr18:18q21.2		 likely benign
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_005359.6(SMAD4):c.1516G>A (p.Val506Met) single nucleotide variant Juvenile polyposis syndrome [RCV002230767]|not provided [RCV002223843] Chr18:51078324 [GRCh38]
Chr18:48604694 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.5(SMAD4):c.669_691delTCAGCCTGCCAGTATACTGGGGG deletion not provided [RCV000481001] Chr18:51058124..51058146 [GRCh38]
Chr18:48584494..48584516 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.788-12del deletion Juvenile polyposis syndrome [RCV002063718]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003321]|not specified [RCV000479367] Chr18:51058327 [GRCh38]
Chr18:48584697 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1140-36_1140-19del deletion Juvenile polyposis syndrome [RCV002056799]|not specified [RCV000483281] Chr18:51066982..51066999 [GRCh38]
Chr18:48593352..48593369 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-128+16_-128+18delinsTT indel not specified [RCV000483480] Chr18:51030639..51030641 [GRCh38]
Chr18:48557009..48557011 [GRCh37]
Chr18:18q21.2		 likely benign
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
NM_005359.6(SMAD4):c.641T>A (p.Phe214Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV002230329] Chr18:51054967 [GRCh38]
Chr18:48581337 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.260G>C (p.Arg87Pro) single nucleotide variant Juvenile polyposis syndrome [RCV002230764] Chr18:51048696 [GRCh38]
Chr18:48575066 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.890A>G (p.His297Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002230330] Chr18:51058442 [GRCh38]
Chr18:48584812 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.909T>C (p.Pro303=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311782]|Hereditary cancer-predisposing syndrome [RCV000561608]|Juvenile polyposis syndrome [RCV000459407]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002044]|SMAD4-related disorder [RCV003899949]|not provided [RCV001721510] Chr18:51059870 [GRCh38]
Chr18:48586240 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.692G>C (p.Gly231Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003168958]|Juvenile polyposis syndrome [RCV002230936]|not provided [RCV000479880] Chr18:51058149 [GRCh38]
Chr18:48584519 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1140-10del deletion Hereditary cancer-predisposing syndrome [RCV001176888]|Juvenile polyposis syndrome [RCV002063734]|not specified [RCV000479901] Chr18:51067004 [GRCh38]
Chr18:48593374 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.905-19_905-17del deletion Hereditary cancer-predisposing syndrome [RCV000579726]|Juvenile polyposis syndrome [RCV002056739]|not specified [RCV000483910] Chr18:51059845..51059847 [GRCh38]
Chr18:48586215..48586217 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.394C>T (p.His132Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002356652]|Juvenile polyposis syndrome [RCV000456145] Chr18:51048830 [GRCh38]
Chr18:48575200 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318547]|Juvenile polyposis syndrome [RCV000463436]|Myhre syndrome [RCV002489099] Chr18:51065592 [GRCh38]
Chr18:48591962 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311781]|Hereditary cancer-predisposing syndrome [RCV000563457]|Juvenile polyposis syndrome [RCV000467293]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002043]|SMAD4-related disorder [RCV003960050]|not provided [RCV001560498] Chr18:51054959 [GRCh38]
Chr18:48581329 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319501]|Hereditary cancer-predisposing syndrome [RCV000775764]|Juvenile polyposis syndrome [RCV000474688]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000672]|not provided [RCV000986026] Chr18:51054880 [GRCh38]
Chr18:48581250 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.560G>A (p.Ser187Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002348279]|Hereditary cancer-predisposing syndrome [RCV000580920]|Juvenile polyposis syndrome [RCV002230325]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003476025] Chr18:51054886 [GRCh38]
Chr18:48581256 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.424+12_424+13del deletion Juvenile polyposis syndrome [RCV002056807]|not specified [RCV000484347] Chr18:51048871..51048872 [GRCh38]
Chr18:48575241..48575242 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140G>A (p.Arg380=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002329096]|Hereditary cancer-predisposing syndrome [RCV001017437]|Juvenile polyposis syndrome [RCV000456222]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002041] Chr18:51067019 [GRCh38]
Chr18:48593389 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1597C>T (p.Leu533Phe) single nucleotide variant Juvenile polyposis syndrome [RCV002230326] Chr18:51078405 [GRCh38]
Chr18:48604775 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-53_-48del deletion not specified [RCV000480335] Chr18:51046994..51046999 [GRCh38]
Chr18:48573364..48573369 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.399C>T (p.Tyr133=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313197]|Hereditary cancer-predisposing syndrome [RCV000567081]|Juvenile polyposis syndrome [RCV000463836]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002039]|not provided [RCV001547518]|not specified [RCV001192753] Chr18:51048835 [GRCh38]
Chr18:48575205 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.899A>G (p.His300Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002374754]|Juvenile polyposis syndrome [RCV002230762]|not provided [RCV001538748] Chr18:51058451 [GRCh38]
Chr18:48584821 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002402237]|Juvenile polyposis syndrome [RCV002230332]|SMAD4-related disorder [RCV003899904]|not specified [RCV000781852] Chr18:51065519 [GRCh38]
Chr18:48591889 [GRCh37]
Chr18:18q21.2		 pathogenic|uncertain significance
NM_005359.6(SMAD4):c.263_267del (p.Lys88fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV004559073]|Juvenile polyposis syndrome [RCV000467655]|not provided [RCV000581213] Chr18:51048696..51048700 [GRCh38]
Chr18:48575066..48575070 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.-128+6C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257764]|not provided [RCV000480676] Chr18:51030629 [GRCh38]
Chr18:48556999 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1217C>T (p.Ala406Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311806]|Juvenile polyposis syndrome [RCV001205567]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003392]|not provided [RCV000480708] Chr18:51067096 [GRCh38]
Chr18:48593466 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002413323]|Hereditary cancer-predisposing syndrome [RCV000581125]|Juvenile polyposis syndrome [RCV000635474]|Myhre syndrome [RCV000764160]|not provided [RCV000480772]|not specified [RCV003235240] Chr18:51047227 [GRCh38]
Chr18:48573597 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.905-9T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187835]|Juvenile polyposis syndrome [RCV001427850]|not provided [RCV000484702] Chr18:51059857 [GRCh38]
Chr18:48586227 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000018.9:g.(?_48603008)_(48611412_?)dup duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000456740] Chr18:51076638..51085042 [GRCh38]
Chr18:48603008..48611412 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311780]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000460479]|Hereditary cancer-predisposing syndrome [RCV000564724]|Juvenile polyposis syndrome [RCV001420984]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124520]|Myhre syndrome [RCV001124521]|not provided [RCV001284065]|not specified [RCV000615584] Chr18:51078440 [GRCh38]
Chr18:48604810 [GRCh37]
Chr18:18q21.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000018.10:g.(?_51067019)_(51085042_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000464090] Chr18:51067019..51085042 [GRCh38]
Chr18:48593389..48611412 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1308+10A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582195]|Juvenile polyposis syndrome [RCV000471749] Chr18:51067197 [GRCh38]
Chr18:48593567 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1259G>A (p.Arg420His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313244]|Juvenile polyposis syndrome [RCV002231095]|not provided [RCV000480803] Chr18:51067138 [GRCh38]
Chr18:48593508 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1002G>T (p.Gln334His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002395147]|Juvenile polyposis syndrome [RCV000701948]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002283]|not provided [RCV000481014] Chr18:51065469 [GRCh38]
Chr18:48591839 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1A>G (p.Met1Val) single nucleotide variant Juvenile polyposis syndrome [RCV001865469]|not provided [RCV000481044] Chr18:51047047 [GRCh38]
Chr18:48573417 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1651T>G (p.Leu551Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002402389]|Hereditary cancer-predisposing syndrome [RCV001187836]|Juvenile polyposis syndrome [RCV000694076]|Myhre syndrome [RCV002506165]|not provided [RCV000485032] Chr18:51078459 [GRCh38]
Chr18:48604829 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1198del (p.Arg400fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002318519]|Juvenile polyposis syndrome [RCV002230328] Chr18:51067077 [GRCh38]
Chr18:48593447 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1206T>A (p.Leu402=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318546]|Hereditary cancer-predisposing syndrome [RCV000775646]|Juvenile polyposis syndrome [RCV000475622]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002038] Chr18:51067085 [GRCh38]
Chr18:48593455 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.903C>G (p.Tyr301Ter) single nucleotide variant not provided [RCV000484282] Chr18:51058455 [GRCh38]
Chr18:48584825 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319001]|Juvenile polyposis syndrome [RCV002230331]|not provided [RCV000489838] Chr18:51078303 [GRCh38]
Chr18:48604673 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.1447+3A>T single nucleotide variant Juvenile polyposis syndrome [RCV000464565] Chr18:51076779 [GRCh38]
Chr18:48603149 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668-7C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258918]|Juvenile polyposis syndrome [RCV001079105]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002045]|not provided [RCV000842150] Chr18:51058118 [GRCh38]
Chr18:48584488 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1295G>A (p.Ser432Asn) single nucleotide variant Juvenile polyposis syndrome [RCV002230765]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000671] Chr18:51067174 [GRCh38]
Chr18:48593544 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.728_735del (p.Gly243fs) deletion Juvenile polyposis syndrome [RCV002230766]|not provided [RCV000481914] Chr18:51058181..51058188 [GRCh38]
Chr18:48584551..48584558 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.888C>G (p.Pro296=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311779]|Hereditary cancer-predisposing syndrome [RCV000563420]|Juvenile polyposis syndrome [RCV000473685]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002042]|not specified [RCV000485346] Chr18:51058440 [GRCh38]
Chr18:48584810 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.668-6C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176558]|Juvenile polyposis syndrome [RCV001441222] Chr18:51058119 [GRCh38]
Chr18:48584489 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311769]|Hereditary cancer-predisposing syndrome [RCV000570776]|Juvenile polyposis syndrome [RCV000464936]|not provided [RCV001566748]|not specified [RCV000781854] Chr18:51054792 [GRCh38]
Chr18:48581162 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000018.10:g.(?_51078256)_(51085042_?)dup duplication Juvenile polyposis syndrome [RCV000476291] Chr18:51078256..51085042 [GRCh38]
Chr18:48604626..48611412 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-128+19C>T single nucleotide variant not provided [RCV000486021] Chr18:51030642 [GRCh38]
Chr18:48557012 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318518]|Juvenile polyposis syndrome [RCV002230327] Chr18:51065563 [GRCh38]
Chr18:48591933 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1371A>G (p.Ala457=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311783]|Hereditary cancer-predisposing syndrome [RCV000570305]|Juvenile polyposis syndrome [RCV000468882]|not provided [RCV001591112] Chr18:51076700 [GRCh38]
Chr18:48603070 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.10_11del (p.Met4fs) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV004559126]|not provided [RCV000478172] Chr18:51047054..51047055 [GRCh38]
Chr18:48573424..48573425 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.332A>C (p.His111Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002446926]|Hereditary cancer-predisposing syndrome [RCV000776540]|Juvenile polyposis syndrome [RCV000635412]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004568175]|not provided [RCV000482083] Chr18:51048768 [GRCh38]
Chr18:48575138 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1529del (p.Gly510fs) deletion Juvenile polyposis syndrome [RCV002230333] Chr18:51078334 [GRCh38]
Chr18:48604704 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.870C>T (p.His290=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311784]|Hereditary cancer-predisposing syndrome [RCV000566853]|Juvenile polyposis syndrome [RCV001394874]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002046] Chr18:51058422 [GRCh38]
Chr18:48584792 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity
NM_005359.6(SMAD4):c.643C>T (p.Pro215Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002356766]|Hereditary cancer-predisposing syndrome [RCV000775794]|Juvenile polyposis syndrome [RCV000807328]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003476154]|not provided [RCV000486636] Chr18:51054969 [GRCh38]
Chr18:48581339 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1489C>T (p.Arg497Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002393090]|Juvenile polyposis syndrome [RCV000465532]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000670] Chr18:51078297 [GRCh38]
Chr18:48604667 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+2T>C single nucleotide variant Juvenile polyposis syndrome [RCV000469223]|not provided [RCV002221235] Chr18:51076778 [GRCh38]
Chr18:48603148 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic|not provided
NM_005359.6(SMAD4):c.799A>C (p.Thr267Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002257760]|Juvenile polyposis syndrome [RCV001851158]|not provided [RCV000482532] Chr18:51058351 [GRCh38]
Chr18:48584721 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+6T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580296]|Juvenile polyposis syndrome [RCV000458313]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003463858] Chr18:51054999 [GRCh38]
Chr18:48581369 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1311C>G (p.Val437=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002383862]|Hereditary cancer-predisposing syndrome [RCV000775647]|Juvenile polyposis syndrome [RCV000458676]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004002040]|not provided [RCV003418210]|not specified [RCV000614902] Chr18:51076640 [GRCh38]
Chr18:48603010 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1007G>A (p.Gly336Glu) single nucleotide variant Juvenile polyposis syndrome [RCV002230763] Chr18:51065474 [GRCh38]
Chr18:48591844 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_005359.6(SMAD4):c.388C>T (p.Pro130Ser) single nucleotide variant not specified [RCV000499605] Chr18:51048824 [GRCh38]
Chr18:48575194 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_005359.6(SMAD4):c.209A>G (p.Lys70Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003159637]|Juvenile polyposis syndrome [RCV001857243]|Myhre syndrome [RCV000505822] Chr18:51047255 [GRCh38]
Chr18:48573625 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
NM_005359.6(SMAD4):c.800C>T (p.Thr267Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420280]|Hereditary cancer-predisposing syndrome [RCV003584638]|Juvenile polyposis syndrome [RCV001341290]|not specified [RCV000506198] Chr18:51058352 [GRCh38]
Chr18:48584722 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
NM_005359.6(SMAD4):c.*4C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317325] Chr18:51078471 [GRCh38]
Chr18:48604841 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-2A>G single nucleotide variant Juvenile polyposis syndrome [RCV002529046]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004024594]|not provided [RCV000578818] Chr18:51048684 [GRCh38]
Chr18:48575054 [GRCh37]
Chr18:18q21.2		 likely pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.150A>G (p.Lys50=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311905]|Hereditary cancer-predisposing syndrome [RCV000575196]|Juvenile polyposis syndrome [RCV000942155]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001079] Chr18:51047196 [GRCh38]
Chr18:48573566 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1452G>C (p.Leu484=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311932]|Juvenile polyposis syndrome [RCV001496855] Chr18:51078260 [GRCh38]
Chr18:48604630 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1418del (p.Gly473fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002315874]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004024571] Chr18:51076746 [GRCh38]
Chr18:48603116 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.424+19C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775309]|Juvenile polyposis syndrome [RCV002066795]|not specified [RCV000606730] Chr18:51048879 [GRCh38]
Chr18:48575249 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.16A>G (p.Ile6Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311914]|Hereditary cancer-predisposing syndrome [RCV000569854]|Juvenile polyposis syndrome [RCV001243344]|not provided [RCV001764673] Chr18:51047062 [GRCh38]
Chr18:48573432 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.745C>G (p.Gln249Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559168]|Juvenile polyposis syndrome [RCV002231367]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004568771] Chr18:51058202 [GRCh38]
Chr18:48584572 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.547C>G (p.Gln183Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311938]|Juvenile polyposis syndrome [RCV002530319] Chr18:51054873 [GRCh38]
Chr18:48581243 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1448-3T>A single nucleotide variant not specified [RCV000603516] Chr18:51078253 [GRCh38]
Chr18:48604623 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.927A>G (p.Ala309=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002413483]|Hereditary cancer-predisposing syndrome [RCV003584651]|Juvenile polyposis syndrome [RCV000553936] Chr18:51059888 [GRCh38]
Chr18:48586258 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.264A>G (p.Lys88=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311917]|Hereditary cancer-predisposing syndrome [RCV000575821]|Juvenile polyposis syndrome [RCV000975642]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001084] Chr18:51048700 [GRCh38]
Chr18:48575070 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.160T>C (p.Leu54=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319036]|Hereditary cancer-predisposing syndrome [RCV001012411]|Juvenile polyposis syndrome [RCV000529396]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999043] Chr18:51047206 [GRCh38]
Chr18:48573576 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.570A>C (p.Ala190=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311946]|Juvenile polyposis syndrome [RCV001493764] Chr18:51054896 [GRCh38]
Chr18:48581266 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1438C>T (p.Pro480Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579655]|Juvenile polyposis syndrome [RCV003762805] Chr18:51076767 [GRCh38]
Chr18:48603137 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1075G>C (p.Gly359Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420398]|Juvenile polyposis syndrome [RCV002231710] Chr18:51065542 [GRCh38]
Chr18:48591912 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6:c.1309_1447del deletion not provided [RCV001284067]   pathogenic
NM_005359.6(SMAD4):c.168T>A (p.Ser56=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311936]|Juvenile polyposis syndrome [RCV001441146]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001089] Chr18:51047214 [GRCh38]
Chr18:48573584 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1126A>G (p.Ile376Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185976]|Juvenile polyposis syndrome [RCV000533488]|not provided [RCV001770420] Chr18:51065593 [GRCh38]
Chr18:48591963 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+7T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777167]|Juvenile polyposis syndrome [RCV000533558] Chr18:51058463 [GRCh38]
Chr18:48584833 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.627C>T (p.Thr209=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367806]|Juvenile polyposis syndrome [RCV000533872] Chr18:51054953 [GRCh38]
Chr18:48581323 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.327A>G (p.Leu109=) single nucleotide variant not specified [RCV000600255] Chr18:51048763 [GRCh38]
Chr18:48575133 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.788-3T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002406360]|Juvenile polyposis syndrome [RCV002234484] Chr18:51058337 [GRCh38]
Chr18:48584707 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.535A>T (p.Ile179Phe) single nucleotide variant Juvenile polyposis syndrome [RCV002234489] Chr18:51054861 [GRCh38]
Chr18:48581231 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1645C>T (p.Gln549Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002388034]|Juvenile polyposis syndrome [RCV002233988] Chr18:51078453 [GRCh38]
Chr18:48604823 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1449T>G (p.Ser483Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002388035]|Juvenile polyposis syndrome [RCV002234495] Chr18:51078257 [GRCh38]
Chr18:48604627 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1287C>G (p.Ile429Met) single nucleotide variant Juvenile polyposis syndrome [RCV002234496] Chr18:51067166 [GRCh38]
Chr18:48593536 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249_249+6dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV004559273]|Hereditary cancer-predisposing syndrome [RCV001187571]|Juvenile polyposis syndrome [RCV002234497] Chr18:51047294..51047295 [GRCh38]
Chr18:48573664..48573665 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420704]|Hereditary cancer-predisposing syndrome [RCV001181983]|Juvenile polyposis syndrome [RCV002234499]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003471993] Chr18:51058364 [GRCh38]
Chr18:48584734 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.615G>T (p.Glu205Asp) single nucleotide variant Juvenile polyposis syndrome [RCV002234501] Chr18:51054941 [GRCh38]
Chr18:48581311 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser) single nucleotide variant Juvenile polyposis syndrome [RCV000635467]|not specified [RCV002265830] Chr18:51047093 [GRCh38]
Chr18:48573463 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.586A>G (p.Ser196Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002358785]|Hereditary cancer-predisposing syndrome [RCV001175700]|Juvenile polyposis syndrome [RCV000635473] Chr18:51054912 [GRCh38]
Chr18:48581282 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.856G>A (p.Gly286Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002448964]|Juvenile polyposis syndrome [RCV000635482]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003471995] Chr18:51058408 [GRCh38]
Chr18:48584778 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1139+10G>C single nucleotide variant Juvenile polyposis syndrome [RCV002233995] Chr18:51065616 [GRCh38]
Chr18:48591986 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.159A>G (p.Glu53=) single nucleotide variant Juvenile polyposis syndrome [RCV002234510] Chr18:51047205 [GRCh38]
Chr18:48573575 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.255T>G (p.Ala85=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002438679]|Juvenile polyposis syndrome [RCV001458647] Chr18:51048691 [GRCh38]
Chr18:48575061 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1533G>T (p.Pro511=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002404767]|Juvenile polyposis syndrome [RCV000635526] Chr18:51078341 [GRCh38]
Chr18:48604711 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.684A>C (p.Ile228=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367808]|Juvenile polyposis syndrome [RCV002231366]|not provided [RCV001800742]|not specified [RCV003330763] Chr18:51058141 [GRCh38]
Chr18:48584511 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.752del (p.Asn251fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002317319]|Juvenile polyposis syndrome [RCV001859991]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004024577]|not provided [RCV000584098] Chr18:51058208 [GRCh38]
Chr18:48584578 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319038]|Juvenile polyposis syndrome [RCV002231363]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004023833] Chr18:51054787 [GRCh38]
Chr18:48581157 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.845A>C (p.His282Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002350217]|Hereditary cancer-predisposing syndrome [RCV000580067]|Juvenile polyposis syndrome [RCV000539961]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999049]|not provided [RCV001591212] Chr18:51058397 [GRCh38]
Chr18:48584767 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311911]|Hereditary cancer-predisposing syndrome [RCV003584663]|Juvenile polyposis syndrome [RCV001370742]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001082]|not provided [RCV000986027] Chr18:51054990 [GRCh38]
Chr18:48581360 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.584A>G (p.Tyr195Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311948]|Juvenile polyposis syndrome [RCV003762802] Chr18:51054910 [GRCh38]
Chr18:48581280 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.294C>T (p.Leu98=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311930]|Hereditary cancer-predisposing syndrome [RCV000574905]|Juvenile polyposis syndrome [RCV000866229]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001087]|not provided [RCV003992331]|not specified [RCV000616931] Chr18:51048730 [GRCh38]
Chr18:48575100 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1392C>A (p.Ala464=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311931]|Hereditary cancer-predisposing syndrome [RCV000570072]|Juvenile polyposis syndrome [RCV001504243] Chr18:51076721 [GRCh38]
Chr18:48603091 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1166_1167del (p.Gln388_Leu389insTer) deletion Juvenile polyposis syndrome [RCV002231355] Chr18:51067045..51067046 [GRCh38]
Chr18:48593415..48593416 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.566G>A (p.Arg189His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319530]|Hereditary cancer-predisposing syndrome [RCV000579689]|Juvenile polyposis syndrome [RCV002231713]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999046]|Myhre syndrome [RCV000764162]|not provided [RCV001584257]|not specified [RCV002268143] Chr18:51054892 [GRCh38]
Chr18:48581262 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1009G>C (p.Glu337Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315230] Chr18:51065476 [GRCh38]
Chr18:48591846 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-1G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315232]|Juvenile polyposis syndrome [RCV001039561] Chr18:51048685 [GRCh38]
Chr18:48575055 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.699T>C (p.His233=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002368045]|Juvenile polyposis syndrome [RCV000928598]|not specified [RCV000615071] Chr18:51058156 [GRCh38]
Chr18:48584526 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1276G>A (p.Val426Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002316530]|Juvenile polyposis syndrome [RCV002231711] Chr18:51067155 [GRCh38]
Chr18:48593525 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.4G>A (p.Asp2Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317321] Chr18:51047050 [GRCh38]
Chr18:48573420 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.289C>T (p.Arg97Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315229]|Juvenile polyposis syndrome [RCV001342499] Chr18:51048725 [GRCh38]
Chr18:48575095 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.787+8C>T single nucleotide variant Juvenile polyposis syndrome [RCV001416602]|not specified [RCV000612808] Chr18:51058252 [GRCh38]
Chr18:48584622 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-148C>T single nucleotide variant not specified [RCV000613144] Chr18:51030603 [GRCh38]
Chr18:48556973 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.384G>A (p.Val128=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176363]|not specified [RCV000616320] Chr18:51048820 [GRCh38]
Chr18:48575190 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.905-1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002317323] Chr18:51059865 [GRCh38]
Chr18:48586235 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.181A>C (p.Ile61Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311928]|Juvenile polyposis syndrome [RCV002232645] Chr18:51047227 [GRCh38]
Chr18:48573597 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.378C>T (p.Val126=) single nucleotide variant not specified [RCV000610505] Chr18:51048814 [GRCh38]
Chr18:48575184 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-128+19del deletion not specified [RCV000616397] Chr18:51030639 [GRCh38]
Chr18:48557009 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.138G>A (p.Lys46=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315868]|Juvenile polyposis syndrome [RCV002060529] Chr18:51047184 [GRCh38]
Chr18:48573554 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.788-9A>C single nucleotide variant Juvenile polyposis syndrome [RCV000525377]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999048] Chr18:51058331 [GRCh38]
Chr18:48584701 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.26C>T (p.Thr9Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559166]|Hereditary cancer-predisposing syndrome [RCV003584649]|Juvenile polyposis syndrome [RCV002231712] Chr18:51047072 [GRCh38]
Chr18:48573442 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-109C>G single nucleotide variant not specified [RCV000613815] Chr18:51046938 [GRCh38]
Chr18:48573308 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1566T>G (p.Pro522=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559253]|Juvenile polyposis syndrome [RCV001462323]|not specified [RCV000608371] Chr18:51078374 [GRCh38]
Chr18:48604744 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.837T>C (p.Asn279=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559251]|not specified [RCV000611152] Chr18:51058389 [GRCh38]
Chr18:48584759 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1464T>C (p.Ala488=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002395336]|Juvenile polyposis syndrome [RCV000531515] Chr18:51078272 [GRCh38]
Chr18:48604642 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.372T>C (p.Asp124=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311923]|Hereditary cancer-predisposing syndrome [RCV000573667]|Juvenile polyposis syndrome [RCV002232644] Chr18:51048808 [GRCh38]
Chr18:48575178 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.935C>G (p.Pro312Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002231715] Chr18:51059896 [GRCh38]
Chr18:48586266 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.955+15_955+17del deletion not specified [RCV000612079] Chr18:51059930..51059932 [GRCh38]
Chr18:48586300..48586302 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1226T>C (p.Val409Ala) single nucleotide variant Juvenile polyposis syndrome [RCV002231356] Chr18:51067105 [GRCh38]
Chr18:48593475 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1585T>C (p.Leu529=) single nucleotide variant Juvenile polyposis syndrome [RCV002529546]|not specified [RCV000599669] Chr18:51078393 [GRCh38]
Chr18:48604763 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter) single nucleotide variant Juvenile polyposis syndrome [RCV002233982] Chr18:51076653 [GRCh38]
Chr18:48603023 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.698A>G (p.His233Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002360541]|Juvenile polyposis syndrome [RCV000635433]|not provided [RCV000756670]|not specified [RCV000780717] Chr18:51058155 [GRCh38]
Chr18:48584525 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1309-1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002386010]|Juvenile polyposis syndrome [RCV002234485] Chr18:51076637 [GRCh38]
Chr18:48603007 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.593C>G (p.Pro198Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003162837]|Juvenile polyposis syndrome [RCV000635435]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003836]|not provided [RCV003319387] Chr18:51054919 [GRCh38]
Chr18:48581289 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.454+2T>C single nucleotide variant Juvenile polyposis syndrome [RCV002233983] Chr18:51049326 [GRCh38]
Chr18:48575696 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.955+1del deletion Juvenile polyposis syndrome [RCV002233984] Chr18:51059916 [GRCh38]
Chr18:48586286 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.565C>A (p.Arg189Ser) single nucleotide variant Juvenile polyposis syndrome [RCV002234500] Chr18:51054891 [GRCh38]
Chr18:48581261 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.340T>A (p.Tyr114Asn) single nucleotide variant Juvenile polyposis syndrome [RCV002234505] Chr18:51048776 [GRCh38]
Chr18:48575146 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1409del (p.Pro470fs) deletion Juvenile polyposis syndrome [RCV002233994]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004568396] Chr18:51076736 [GRCh38]
Chr18:48603106 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.918T>G (p.Asn306Lys) single nucleotide variant Juvenile polyposis syndrome [RCV002234507] Chr18:51059879 [GRCh38]
Chr18:48586249 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1035C>T (p.Cys345=) single nucleotide variant Juvenile polyposis syndrome [RCV000635492] Chr18:51065502 [GRCh38]
Chr18:48591872 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.816G>A (p.Arg272=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002448965]|Hereditary cancer-predisposing syndrome [RCV001027241]|Juvenile polyposis syndrome [RCV000635496]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003837]|not provided [RCV001712772] Chr18:51058368 [GRCh38]
Chr18:48584738 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.351T>C (p.Tyr117=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319072]|Juvenile polyposis syndrome [RCV002233996] Chr18:51048787 [GRCh38]
Chr18:48575157 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.615G>A (p.Glu205=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559274]|Juvenile polyposis syndrome [RCV000635513] Chr18:51054941 [GRCh38]
Chr18:48581311 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.705A>G (p.Glu235=) single nucleotide variant Juvenile polyposis syndrome [RCV000635525] Chr18:51058162 [GRCh38]
Chr18:48584532 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-16C>A single nucleotide variant Juvenile polyposis syndrome [RCV001860290]|not specified [RCV000604877] Chr18:51058109 [GRCh38]
Chr18:48584479 [GRCh37]
Chr18:18q21.2		 likely benign
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
NM_005359.6(SMAD4):c.628A>G (p.Ser210Gly) single nucleotide variant Juvenile polyposis syndrome [RCV002233145] Chr18:51054954 [GRCh38]
Chr18:48581324 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.427C>T (p.Leu143Phe) single nucleotide variant Juvenile polyposis syndrome [RCV002232852] Chr18:51049297 [GRCh38]
Chr18:48575667 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000664319] Chr18:51078331 [GRCh38]
Chr18:48604701 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1647del (p.Gln549fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002397344]|Generalized juvenile polyposis/juvenile polyposis coli [RCV000662977]|Juvenile polyposis syndrome [RCV002530601]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004004207] Chr18:51078454 [GRCh38]
Chr18:48604824 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904T>C (p.Trp302Arg) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000662458]|Juvenile polyposis syndrome [RCV003596488]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003316782] Chr18:51058456 [GRCh38]
Chr18:48584826 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu) single nucleotide variant Heritable Thoracic Aortic Disease [RCV000678041]|Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia [RCV001261772]|Juvenile polyposis syndrome [RCV001304441] Chr18:51048726 [GRCh38]
Chr18:48575096 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.580A>G (p.Thr194Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002352192]|Juvenile polyposis syndrome [RCV000700989] Chr18:51054906 [GRCh38]
Chr18:48581276 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+20T>C single nucleotide variant Juvenile polyposis syndrome [RCV002060852]|not provided [RCV000679587] Chr18:51047315 [GRCh38]
Chr18:48573685 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455C>A (p.Ala152Asp) single nucleotide variant not provided [RCV000679590] Chr18:51054781 [GRCh38]
Chr18:48581151 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31		 pathogenic
NM_005359.6(SMAD4):c.667+10A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189630]|Juvenile polyposis syndrome [RCV001454204]|not provided [RCV000679591] Chr18:51055003 [GRCh38]
Chr18:48581373 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.367T>C (p.Cys123Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002232855] Chr18:51048803 [GRCh38]
Chr18:48575173 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.939dup (p.Ile314fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002406615]|Juvenile polyposis syndrome [RCV002234107] Chr18:51059897..51059898 [GRCh38]
Chr18:48586267..48586268 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.760A>G (p.Thr254Ala) single nucleotide variant Juvenile polyposis syndrome [RCV002233152] Chr18:51058217 [GRCh38]
Chr18:48584587 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-2A>C single nucleotide variant Juvenile polyposis syndrome [RCV002233558] Chr18:51067017 [GRCh38]
Chr18:48593387 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.661T>A (p.Ser221Thr) single nucleotide variant Juvenile polyposis syndrome [RCV002232857] Chr18:51054987 [GRCh38]
Chr18:48581357 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002352125]|Juvenile polyposis syndrome [RCV002233154] Chr18:51054911 [GRCh38]
Chr18:48581281 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1138A>T (p.Arg380Trp) single nucleotide variant Juvenile polyposis syndrome [RCV002233708] Chr18:51065605 [GRCh38]
Chr18:48591975 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.290G>A (p.Arg97His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002440531]|Juvenile polyposis syndrome [RCV000704710] Chr18:51048726 [GRCh38]
Chr18:48575096 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter) single nucleotide variant Juvenile polyposis syndrome [RCV000691045] Chr18:51078380 [GRCh38]
Chr18:48604750 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.5(SMAD4):c.1616_1631del16insCA (p.Val539Alafs) indel Juvenile polyposis syndrome [RCV002544821] Chr18:51078424..51078439 [GRCh38]
Chr18:48604794..48604809 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002397382]|Juvenile polyposis syndrome [RCV002232881]|not specified [RCV001174759] Chr18:51078399 [GRCh38]
Chr18:48604769 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668-3T>C single nucleotide variant Juvenile polyposis syndrome [RCV002232883] Chr18:51058122 [GRCh38]
Chr18:48584492 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.10:g.(?_51076628)_(51078477_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000708206] Chr18:51076628..51078477 [GRCh38]
Chr18:48602998..48604847 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.787A>G (p.Asn263Asp) single nucleotide variant Juvenile polyposis syndrome [RCV002233584] Chr18:51058244 [GRCh38]
Chr18:48584614 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667A>G (p.Ser223Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002352140]|Hereditary cancer-predisposing syndrome [RCV001025524]|Juvenile polyposis syndrome [RCV002233540] Chr18:51054993 [GRCh38]
Chr18:48581363 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.688G>C (p.Gly230Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002233330]|Myhre syndrome [RCV002507216] Chr18:51058145 [GRCh38]
Chr18:48584515 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.512C>T (p.Ser171Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002334262]|Hereditary cancer-predisposing syndrome [RCV002257927]|Juvenile polyposis syndrome [RCV000687533] Chr18:51054838 [GRCh38]
Chr18:48581208 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.707G>A (p.Gly236Glu) single nucleotide variant Juvenile polyposis syndrome [RCV000692896] Chr18:51058164 [GRCh38]
Chr18:48584534 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.8A>G (p.Asn3Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002369953]|Juvenile polyposis syndrome [RCV002233409]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003999754]|not provided [RCV002274093] Chr18:51047054 [GRCh38]
Chr18:48573424 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.969G>T (p.Trp323Cys) single nucleotide variant Juvenile polyposis syndrome [RCV002233606] Chr18:51065436 [GRCh38]
Chr18:48591806 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.10:g.(?_51030213)_(51078477_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000707986] Chr18:51030213..51078477 [GRCh38]
Chr18:48556583..48604847 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs) deletion Juvenile polyposis syndrome [RCV002233260] Chr18:51076670..51076694 [GRCh38]
Chr18:48603040..48603064 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1612G>T (p.Glu538Ter) single nucleotide variant Juvenile polyposis syndrome [RCV002233690] Chr18:51078420 [GRCh38]
Chr18:48604790 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.842C>T (p.Pro281Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002442533]|Juvenile polyposis syndrome [RCV000706245]|not provided [RCV001772009] Chr18:51058394 [GRCh38]
Chr18:48584764 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+4A>G single nucleotide variant Juvenile polyposis syndrome [RCV002233691] Chr18:51076780 [GRCh38]
Chr18:48603150 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.399C>A (p.Tyr133Ter) single nucleotide variant Juvenile polyposis syndrome [RCV002235041] Chr18:51048835 [GRCh38]
Chr18:48575205 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.11T>C (p.Met4Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001907861] Chr18:51047057 [GRCh38]
Chr18:48573427 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1352C>A (p.Ala451Glu) single nucleotide variant Juvenile polyposis syndrome [RCV002234878] Chr18:51076681 [GRCh38]
Chr18:48603051 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+44_904+45dup duplication not provided [RCV001609157] Chr18:51058485..51058486 [GRCh38]
Chr18:48584855..48584856 [GRCh37]
Chr18:18q21.2		 benign
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_005359.6(SMAD4):c.956-178A>G single nucleotide variant not provided [RCV001535068] Chr18:51065245 [GRCh38]
Chr18:48591615 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1050T>G (p.Val350=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559807]|Juvenile polyposis syndrome [RCV001427879] Chr18:51065517 [GRCh38]
Chr18:48591887 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.903C>T (p.Tyr301=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584814]|Juvenile polyposis syndrome [RCV001065119] Chr18:51058455 [GRCh38]
Chr18:48584825 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NC_000018.10:g.(?_51029921)_(51078477_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV001032209] Chr18:48556291..48604847 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.922C>G (p.Leu308Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002400189]|Hereditary cancer-predisposing syndrome [RCV001019037]|Juvenile polyposis syndrome [RCV001223232] Chr18:51059883 [GRCh38]
Chr18:48586253 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.1514_1515del (p.Phe505fs) deletion not provided [RCV000996688] Chr18:51078320..51078321 [GRCh38]
Chr18:48604690..48604691 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.*17G>A single nucleotide variant not provided [RCV001581885] Chr18:51078484 [GRCh38]
Chr18:48604854 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002400160]|not provided [RCV000986024] Chr18:51065511..51065512 [GRCh38]
Chr18:48591881..48591882 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1269A>C (p.Gly423=) single nucleotide variant Juvenile polyposis syndrome [RCV002067571]|not provided [RCV000986025] Chr18:51067148 [GRCh38]
Chr18:48593518 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1200G>A (p.Arg400=) single nucleotide variant Juvenile polyposis syndrome [RCV001432794] Chr18:51067079 [GRCh38]
Chr18:48593449 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.360C>T (p.Asp120=) single nucleotide variant Juvenile polyposis syndrome [RCV001452136] Chr18:51048796 [GRCh38]
Chr18:48575166 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1512T>C (p.Ser504=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002390994]|Juvenile polyposis syndrome [RCV001489288]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004004340] Chr18:51078320 [GRCh38]
Chr18:48604690 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.788-7T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178654]|Juvenile polyposis syndrome [RCV000921977] Chr18:51058333 [GRCh38]
Chr18:48584703 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.435A>G (p.Gly145=) single nucleotide variant Juvenile polyposis syndrome [RCV001430594] Chr18:51049305 [GRCh38]
Chr18:48575675 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+7T>A single nucleotide variant Juvenile polyposis syndrome [RCV000982996] Chr18:51055000 [GRCh38]
Chr18:48581370 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.390A>T (p.Pro130=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002354777]|Juvenile polyposis syndrome [RCV001473297] Chr18:51048826 [GRCh38]
Chr18:48575196 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.108A>G (p.Ala36=) single nucleotide variant Juvenile polyposis syndrome [RCV000983553] Chr18:51047154 [GRCh38]
Chr18:48573524 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.576A>G (p.Thr192=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002332877]|Juvenile polyposis syndrome [RCV001466704]|not provided [RCV003478575] Chr18:51054902 [GRCh38]
Chr18:48581272 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.843T>C (p.Pro281=) single nucleotide variant Juvenile polyposis syndrome [RCV000983510] Chr18:51058395 [GRCh38]
Chr18:48584765 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.642T>C (p.Phe214=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002363444]|Juvenile polyposis syndrome [RCV001391853] Chr18:51054968 [GRCh38]
Chr18:48581338 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.249+7C>T single nucleotide variant Juvenile polyposis syndrome [RCV000925496]|not specified [RCV002271597] Chr18:51047302 [GRCh38]
Chr18:48573672 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.817A>G (p.Thr273Ala) single nucleotide variant Juvenile polyposis syndrome [RCV001038784] Chr18:51058369 [GRCh38]
Chr18:48584739 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.952C>G (p.Pro318Ala) single nucleotide variant Juvenile polyposis syndrome [RCV001061911]|not provided [RCV001508830] Chr18:51059913 [GRCh38]
Chr18:48586283 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.321_330dup (p.His111Ter) duplication Juvenile polyposis syndrome [RCV001056295] Chr18:51048752..51048753 [GRCh38]
Chr18:48575122..48575123 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.680G>T (p.Ser227Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002365694]|Juvenile polyposis syndrome [RCV001049674]|not provided [RCV001284066] Chr18:51058137 [GRCh38]
Chr18:48584507 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.476A>G (p.Lys159Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002337107]|Juvenile polyposis syndrome [RCV001039027] Chr18:51054802 [GRCh38]
Chr18:48581172 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.47G>A (p.Cys16Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559871]|Juvenile polyposis syndrome [RCV001051762] Chr18:51047093 [GRCh38]
Chr18:48573463 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+35T>A single nucleotide variant Juvenile polyposis syndrome [RCV003316910] Chr18:51058491 [GRCh38]
Chr18:48584861 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.955+4A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003160246]|Juvenile polyposis syndrome [RCV001038622] Chr18:51059920 [GRCh38]
Chr18:48586290 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*14T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772398] Chr18:51078481 [GRCh38]
Chr18:48604851 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.780C>T (p.Tyr260=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002440610]|Hereditary cancer-predisposing syndrome [RCV000774799]|Juvenile polyposis syndrome [RCV001428360] Chr18:51058237 [GRCh38]
Chr18:48584607 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1139+17C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772699]|Juvenile polyposis syndrome [RCV002534029] Chr18:51065623 [GRCh38]
Chr18:48591993 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1339A>C (p.Met447Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002386335]|Hereditary cancer-predisposing syndrome [RCV000772782]|Juvenile polyposis syndrome [RCV001850965]|Myhre syndrome [RCV002500999] Chr18:51076668 [GRCh38]
Chr18:48603038 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.442C>G (p.Leu148Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319099]|Hereditary cancer-predisposing syndrome [RCV000772807] Chr18:51049312 [GRCh38]
Chr18:48575682 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.860A>G (p.His287Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002442578]|Hereditary cancer-predisposing syndrome [RCV000772845]|Juvenile polyposis syndrome [RCV001043624] Chr18:51058412 [GRCh38]
Chr18:48584782 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1479T>C (p.Asp493=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559646]|Hereditary cancer-predisposing syndrome [RCV000772866]|Juvenile polyposis syndrome [RCV001454731] Chr18:51078287 [GRCh38]
Chr18:48604657 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.333T>A (p.His111Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772878] Chr18:51048769 [GRCh38]
Chr18:48575139 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+21dup duplication Hereditary cancer-predisposing syndrome [RCV000772920]|Juvenile polyposis syndrome [RCV002536639] Chr18:51047311..51047312 [GRCh38]
Chr18:48573681..48573682 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.55A>G (p.Ile19Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002343631]|Hereditary cancer-predisposing syndrome [RCV000774816]|Juvenile polyposis syndrome [RCV001873150] Chr18:51047101 [GRCh38]
Chr18:48573471 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*7_*8del deletion Hereditary cancer-predisposing syndrome [RCV000772442] Chr18:51078472..51078473 [GRCh38]
Chr18:48604842..48604843 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1326G>A (p.Gln442=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773393]|Juvenile polyposis syndrome [RCV003768339] Chr18:51076655 [GRCh38]
Chr18:48603025 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.568G>T (p.Ala190Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773452] Chr18:51054894 [GRCh38]
Chr18:48581264 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1448-18C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773518]|Juvenile polyposis syndrome [RCV002534073] Chr18:51078238 [GRCh38]
Chr18:48604608 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1131G>C (p.Glu377Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770699] Chr18:51065598 [GRCh38]
Chr18:48591968 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.304C>G (p.Pro102Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773552] Chr18:51048740 [GRCh38]
Chr18:48575110 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.651T>G (p.Ile217Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002360881]|Hereditary cancer-predisposing syndrome [RCV000773555]|Juvenile polyposis syndrome [RCV000821627] Chr18:51054977 [GRCh38]
Chr18:48581347 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1326G>C (p.Gln442His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774850]|Juvenile polyposis syndrome [RCV002534159] Chr18:51076655 [GRCh38]
Chr18:48603025 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.787+15T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774885]|Juvenile polyposis syndrome [RCV002534164] Chr18:51058259 [GRCh38]
Chr18:48584629 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.907C>G (p.Pro303Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002386341]|Hereditary cancer-predisposing syndrome [RCV000773779]|Juvenile polyposis syndrome [RCV001208046]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001327] Chr18:51059868 [GRCh38]
Chr18:48586238 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.787+1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002406694]|Hereditary cancer-predisposing syndrome [RCV000773814]|Juvenile polyposis syndrome [RCV002534098] Chr18:51058245 [GRCh38]
Chr18:48584615 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.1148T>C (p.Ile383Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773815]|Juvenile polyposis syndrome [RCV001856069]|not provided [RCV001357376] Chr18:51067027 [GRCh38]
Chr18:48593397 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774967]|Juvenile polyposis syndrome [RCV003762875]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001423]|not provided [RCV003313146] Chr18:51054978 [GRCh38]
Chr18:48581348 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.*14T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775310] Chr18:51078481 [GRCh38]
Chr18:48604851 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1008A>G (p.Gly336=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774116]|Juvenile polyposis syndrome [RCV000934166] Chr18:51065475 [GRCh38]
Chr18:48591845 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+7A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775640]|Juvenile polyposis syndrome [RCV001404195] Chr18:51049331 [GRCh38]
Chr18:48575701 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.614A>C (p.Glu205Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775641]|Juvenile polyposis syndrome [RCV001210687] Chr18:51054940 [GRCh38]
Chr18:48581310 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.700A>C (p.Ser234Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002397549]|Hereditary cancer-predisposing syndrome [RCV000775642]|Juvenile polyposis syndrome [RCV001052363] Chr18:51058157 [GRCh38]
Chr18:48584527 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.788-14G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775643]|Juvenile polyposis syndrome [RCV002067322] Chr18:51058326 [GRCh38]
Chr18:48584696 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.955+19T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775644] Chr18:51059935 [GRCh38]
Chr18:48586305 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.620A>G (p.Asn207Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000775847] Chr18:51054946 [GRCh38]
Chr18:48581316 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.954T>A (p.Pro318=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370051]|Hereditary cancer-predisposing syndrome [RCV000775866] Chr18:51059915 [GRCh38]
Chr18:48586285 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*13T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776132] Chr18:51078480 [GRCh38]
Chr18:48604850 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776603]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001477] Chr18:51078468 [GRCh38]
Chr18:48604838 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.585C>T (p.Tyr195=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002334451]|Hereditary cancer-predisposing syndrome [RCV000776640] Chr18:51054911 [GRCh38]
Chr18:48581281 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1090T>C (p.Leu364=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002442580]|Hereditary cancer-predisposing syndrome [RCV000773330]|Juvenile polyposis syndrome [RCV001421698] Chr18:51065557 [GRCh38]
Chr18:48591927 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.279G>C (p.Val93=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559649]|Juvenile polyposis syndrome [RCV002067385]|not specified [RCV000781855] Chr18:51048715 [GRCh38]
Chr18:48575085 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.198T>C (p.Ala66=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002422663]|Hereditary cancer-predisposing syndrome [RCV000776680]|Juvenile polyposis syndrome [RCV003762877] Chr18:51047244 [GRCh38]
Chr18:48573614 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1258C>T (p.Arg420Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002424775]|Hereditary cancer-predisposing syndrome [RCV000776700]|Juvenile polyposis syndrome [RCV001206717]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003472304] Chr18:51067137 [GRCh38]
Chr18:48593507 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.530A>C (p.His177Pro) single nucleotide variant Carcinoma of pancreas [RCV001196539]|Hereditary cancer-predisposing syndrome [RCV000776746]|Juvenile polyposis syndrome [RCV001050665] Chr18:51054856 [GRCh38]
Chr18:48581226 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776864]|Juvenile polyposis syndrome [RCV001856136]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001262036] Chr18:51076638 [GRCh38]
Chr18:48603008 [GRCh37]
Chr18:18q21.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.795T>C (p.Thr265=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002422664]|Hereditary cancer-predisposing syndrome [RCV000776957] Chr18:51058347 [GRCh38]
Chr18:48584717 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.432A>C (p.Ser144=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777028]|Juvenile polyposis syndrome [RCV001475675] Chr18:51049302 [GRCh38]
Chr18:48575672 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.5(SMAD4):c.675_676delTGinsCC (p.Ala226Pro) indel Hereditary cancer-predisposing syndrome [RCV000771349] Chr18:51058132..51058133 [GRCh38]
Chr18:48584502..48584503 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+17T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777137]|Juvenile polyposis syndrome [RCV003768415] Chr18:51076793 [GRCh38]
Chr18:48603163 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.58G>T (p.Val20Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777148] Chr18:51047104 [GRCh38]
Chr18:48573474 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.580A>T (p.Thr194Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777357]|Juvenile polyposis syndrome [RCV003762878] Chr18:51054906 [GRCh38]
Chr18:48581276 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+22_667+24del deletion Hereditary cancer-predisposing syndrome [RCV000771624]|Juvenile polyposis syndrome [RCV002067229] Chr18:51055013..51055015 [GRCh38]
Chr18:48581383..48581385 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1530A>G (p.Gly510=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559647]|Hereditary cancer-predisposing syndrome [RCV000777437]|Juvenile polyposis syndrome [RCV001505361] Chr18:51078338 [GRCh38]
Chr18:48604708 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1309-5A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318891]|Hereditary cancer-predisposing syndrome [RCV000777455]|Juvenile polyposis syndrome [RCV003596555] Chr18:51076633 [GRCh38]
Chr18:48603003 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.679A>G (p.Ser227Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002360895]|Hereditary cancer-predisposing syndrome [RCV000777492]|Juvenile polyposis syndrome [RCV001221876]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001501] Chr18:51058136 [GRCh38]
Chr18:48584506 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.887C>A (p.Pro296His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559648]|Hereditary cancer-predisposing syndrome [RCV000777515]|Juvenile polyposis syndrome [RCV001869126] Chr18:51058439 [GRCh38]
Chr18:48584809 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1067dup (p.Ser357fs) duplication Juvenile polyposis syndrome [RCV000814633] Chr18:51065531..51065532 [GRCh38]
Chr18:48591901..48591902 [GRCh37]
Chr18:18q21.2		 pathogenic
NC_000018.9:g.(?_48556583)_(48604847_?)dup duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000816619]|Juvenile polyposis syndrome [RCV001856255] Chr18:51030213..51078477 [GRCh38]
Chr18:48556583..48604847 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.209A>C (p.Lys70Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000772363]|Juvenile polyposis syndrome [RCV001035151] Chr18:51047255 [GRCh38]
Chr18:48573625 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.723A>T (p.Ala241=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002372687]|Juvenile polyposis syndrome [RCV001453866] Chr18:51058180 [GRCh38]
Chr18:48584550 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.186T>A (p.Thr62=) single nucleotide variant Juvenile polyposis syndrome [RCV001463142] Chr18:51047232 [GRCh38]
Chr18:48573602 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-4A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319125]|Juvenile polyposis syndrome [RCV001485165]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003164]|SMAD4-related disorder [RCV003958272] Chr18:51054777 [GRCh38]
Chr18:48581147 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.956-4A>T single nucleotide variant Juvenile polyposis syndrome [RCV000940362] Chr18:51065419 [GRCh38]
Chr18:48591789 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.408T>C (p.Val136=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319121]|Juvenile polyposis syndrome [RCV001446116]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003120] Chr18:51048844 [GRCh38]
Chr18:48575214 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+10T>C single nucleotide variant Juvenile polyposis syndrome [RCV000981401] Chr18:51058466 [GRCh38]
Chr18:48584836 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1464T>G (p.Ala488=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002390791]|Hereditary cancer-predisposing syndrome [RCV003584772]|Juvenile polyposis syndrome [RCV001484588] Chr18:51078272 [GRCh38]
Chr18:48604642 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.402A>G (p.Glu134=) single nucleotide variant Juvenile polyposis syndrome [RCV001498090] Chr18:51048838 [GRCh38]
Chr18:48575208 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.285T>C (p.Tyr95=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002434236]|Hereditary cancer-predisposing syndrome [RCV001179746]|Juvenile polyposis syndrome [RCV001435450] Chr18:51048721 [GRCh38]
Chr18:48575091 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1449T>C (p.Ser483=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559742]|Juvenile polyposis syndrome [RCV001433138] Chr18:51078257 [GRCh38]
Chr18:48604627 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1146C>T (p.His382=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559762]|Juvenile polyposis syndrome [RCV001481360] Chr18:51067025 [GRCh38]
Chr18:48593395 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.810A>C (p.Gly270=) single nucleotide variant Juvenile polyposis syndrome [RCV001478546] Chr18:51058362 [GRCh38]
Chr18:48584732 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.339A>G (p.Lys113=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002458397]|Juvenile polyposis syndrome [RCV002067371]|not specified [RCV000780720] Chr18:51048775 [GRCh38]
Chr18:48575145 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.682A>G (p.Ile228Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002386320]|Hereditary cancer-predisposing syndrome [RCV003584738]|Juvenile polyposis syndrome [RCV001066745]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003472281]|not provided [RCV000759349] Chr18:51058139 [GRCh38]
Chr18:48584509 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+137T>G single nucleotide variant not provided [RCV000835610] Chr18:51058593 [GRCh38]
Chr18:48584963 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1321C>T (p.Arg441Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318892]|Juvenile polyposis syndrome [RCV002234208]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004569516] Chr18:51076650 [GRCh38]
Chr18:48603020 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318896]|Juvenile polyposis syndrome [RCV002235420]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004029096] Chr18:51067073 [GRCh38]
Chr18:48593443 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.691G>C (p.Gly231Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002235569] Chr18:51058148 [GRCh38]
Chr18:48584518 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+6T>A single nucleotide variant Juvenile polyposis syndrome [RCV002235583] Chr18:51047301 [GRCh38]
Chr18:48573671 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.10:g.(?_51030213)_(51030623_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV000798828]|Juvenile polyposis syndrome [RCV001873239] Chr18:51030213..51030623 [GRCh38]
Chr18:48556583..48556993 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.652C>A (p.Pro218Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002363136]|Hereditary cancer-predisposing syndrome [RCV001190536]|Juvenile polyposis syndrome [RCV002235089]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004569723] Chr18:51054978 [GRCh38]
Chr18:48581348 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.451A>G (p.Asn151Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002336621]|Juvenile polyposis syndrome [RCV000803190]|not provided [RCV003141801] Chr18:51049321 [GRCh38]
Chr18:48575691 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1148T>G (p.Ile383Arg) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV000807488] Chr18:51067027 [GRCh38]
Chr18:48593397 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.1213C>T (p.His405Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002352393]|Hereditary cancer-predisposing syndrome [RCV001187709]|Juvenile polyposis syndrome [RCV002235785]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003472399]|not provided [RCV001788356] Chr18:51067092 [GRCh38]
Chr18:48593462 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+238C>A single nucleotide variant not provided [RCV000836562] Chr18:51055231 [GRCh38]
Chr18:48581601 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.822_823delinsCG (p.Pro275Ala) indel not provided [RCV000986030] Chr18:51058374..51058375 [GRCh38]
Chr18:48584744..48584745 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1322G>A (p.Arg441His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318894]|Juvenile polyposis syndrome [RCV002234349]|not provided [RCV003329343] Chr18:51076651 [GRCh38]
Chr18:48603021 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+300del deletion not provided [RCV000840784] Chr18:51047595 [GRCh38]
Chr18:48573965 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.1119A>T (p.Thr373=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318897]|Hereditary cancer-predisposing syndrome [RCV001009909]|Juvenile polyposis syndrome [RCV001088288]|not provided [RCV000831512] Chr18:51065586 [GRCh38]
Chr18:48591956 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1249_1250del (p.Glu417fs) microsatellite Juvenile polyposis syndrome [RCV002234770] Chr18:51067125..51067126 [GRCh38]
Chr18:48593495..48593496 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.546C>G (p.Ile182Met) single nucleotide variant Juvenile polyposis syndrome [RCV000817707] Chr18:51054872 [GRCh38]
Chr18:48581242 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1309-67G>C single nucleotide variant not provided [RCV000835104] Chr18:51076571 [GRCh38]
Chr18:48602941 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.196G>A (p.Ala66Thr) single nucleotide variant Juvenile polyposis syndrome [RCV002235386] Chr18:51047242 [GRCh38]
Chr18:48573612 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.443del (p.Leu148fs) deletion Juvenile polyposis syndrome [RCV002234304] Chr18:51049313 [GRCh38]
Chr18:48575683 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.923T>C (p.Leu308Pro) single nucleotide variant Juvenile polyposis syndrome [RCV000800233] Chr18:51059884 [GRCh38]
Chr18:48586254 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.478G>A (p.Asp160Asn) single nucleotide variant Juvenile polyposis syndrome [RCV002234899] Chr18:51054804 [GRCh38]
Chr18:48581174 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-256G>A single nucleotide variant not provided [RCV000840586] Chr18:51066763 [GRCh38]
Chr18:48593133 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.1447+257T>C single nucleotide variant not provided [RCV000840587] Chr18:51077033 [GRCh38]
Chr18:48603403 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.1363C>T (p.Gln455Ter) single nucleotide variant Juvenile polyposis syndrome [RCV002234724] Chr18:51076692 [GRCh38]
Chr18:48603062 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.249+135T>C single nucleotide variant not provided [RCV000837486] Chr18:51047430 [GRCh38]
Chr18:48573800 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.775A>G (p.Thr259Ala) single nucleotide variant Juvenile polyposis syndrome [RCV000804629] Chr18:51058232 [GRCh38]
Chr18:48584602 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.422T>C (p.Ile141Thr) single nucleotide variant Juvenile polyposis syndrome [RCV002235290] Chr18:51048858 [GRCh38]
Chr18:48575228 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1063_1064insGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTATTGATTG (p.Asp355delinsGlyProPheTrpArgArgSerLeuLeuPheGlySerThrLeuGlnCysProGlnAspArgSerHisTer) insertion Juvenile polyposis syndrome [RCV002235534] Chr18:51065529..51065530 [GRCh38]
Chr18:48591899..48591900 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.629G>A (p.Ser210Asn) single nucleotide variant Juvenile polyposis syndrome [RCV002235553] Chr18:51054955 [GRCh38]
Chr18:48581325 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(?_48556583)_(48603156_?)dup duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000809303] Chr18:51030213..51076786 [GRCh38]
Chr18:48556583..48603156 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
NC_000018.10:g.(?_51030213)_(51078467_?)del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV001032117]|Juvenile polyposis syndrome [RCV004579566] Chr18:48556583..48604837 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.991A>G (p.Met331Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002445163]|Hereditary cancer-predisposing syndrome [RCV003584795] Chr18:51065458 [GRCh38]
Chr18:48591828 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1342C>G (p.Gln448Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318895]|Juvenile polyposis syndrome [RCV002235130] Chr18:51076671 [GRCh38]
Chr18:48603041 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.3G>C (p.Met1Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370069]|Hereditary cancer-predisposing syndrome [RCV003584747]|Juvenile polyposis syndrome [RCV002233848] Chr18:51047049 [GRCh38]
Chr18:48573419 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1018A>G (p.Lys340Glu) single nucleotide variant Juvenile polyposis syndrome [RCV002234854] Chr18:51065485 [GRCh38]
Chr18:48591855 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1138A>G (p.Arg380Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318912] Chr18:51065605 [GRCh38]
Chr18:48591975 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319394]|Hereditary cancer-predisposing syndrome [RCV003584798]|Juvenile polyposis syndrome [RCV001387868]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004030837] Chr18:51054831 [GRCh38]
Chr18:48581201 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.203C>T (p.Pro68Leu) single nucleotide variant Juvenile polyposis syndrome [RCV002234700] Chr18:51047249 [GRCh38]
Chr18:48573619 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1177G>A (p.Gly393Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318915] Chr18:51067056 [GRCh38]
Chr18:48593426 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.267A>T (p.Gly89=) single nucleotide variant Juvenile polyposis syndrome [RCV000822613] Chr18:51048703 [GRCh38]
Chr18:48575073 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+215A>G single nucleotide variant not provided [RCV000836600] Chr18:51047510 [GRCh38]
Chr18:48573880 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.1352C>T (p.Ala451Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559655]|Juvenile polyposis syndrome [RCV002233842]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004001566] Chr18:51076681 [GRCh38]
Chr18:48603051 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-127-306G>A single nucleotide variant not provided [RCV000840585] Chr18:51046614 [GRCh38]
Chr18:48572984 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.685C>T (p.Leu229=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002363302]|Juvenile polyposis syndrome [RCV000875772] Chr18:51058142 [GRCh38]
Chr18:48584512 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.686T>G (p.Leu229Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002360919]|Hereditary cancer-predisposing syndrome [RCV002257956]|Juvenile polyposis syndrome [RCV002233865] Chr18:51058143 [GRCh38]
Chr18:48584513 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.997G>A (p.Val333Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002442655]|Juvenile polyposis syndrome [RCV000800540] Chr18:51065464 [GRCh38]
Chr18:48591834 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.69del (p.Met24fs) deletion Juvenile polyposis syndrome [RCV002234901] Chr18:51047115 [GRCh38]
Chr18:48573485 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.420A>C (p.Gly140=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002327203]|Juvenile polyposis syndrome [RCV000980402] Chr18:51048856 [GRCh38]
Chr18:48575226 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1604_1605delinsAA (p.Leu535Gln) indel Juvenile polyposis syndrome [RCV002234910] Chr18:51078412..51078413 [GRCh38]
Chr18:48604782..48604783 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.247C>T (p.Gln83Ter) single nucleotide variant Juvenile polyposis syndrome [RCV002234940] Chr18:51047293 [GRCh38]
Chr18:48573663 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1588C>A (p.His530Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584754]|Juvenile polyposis syndrome [RCV002234949]|not provided [RCV003235404] Chr18:51078396 [GRCh38]
Chr18:48604766 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319109]|Juvenile polyposis syndrome [RCV000803964]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003472376]|not specified [RCV003323726] Chr18:51054783 [GRCh38]
Chr18:48581153 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.885G>T (p.Pro295=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002444956]|Juvenile polyposis syndrome [RCV001462565] Chr18:51058437 [GRCh38]
Chr18:48584807 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.731C>T (p.Pro244Leu) single nucleotide variant Juvenile polyposis syndrome [RCV002235297] Chr18:51058188 [GRCh38]
Chr18:48584558 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.10:g.51058118C>T single nucleotide variant not provided [RCV000842150] Chr18:48584488 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.905-3T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370164]|Hereditary cancer-predisposing syndrome [RCV003584758]|Juvenile polyposis syndrome [RCV002235789] Chr18:51059863 [GRCh38]
Chr18:48586233 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.433G>A (p.Gly145Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319342] Chr18:51049303 [GRCh38]
Chr18:48575673 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.415_416del (p.Pro139fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002319324] Chr18:51048851..51048852 [GRCh38]
Chr18:48575221..48575222 [GRCh37]
Chr18:18q21.2		 pathogenic
Single allele translocation Hereditary cancer-predisposing syndrome [RCV000850067] Chr18:18q21.2 uncertain significance
NM_005359.6(SMAD4):c.445C>A (p.Gln149Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319352]|Juvenile polyposis syndrome [RCV001873359] Chr18:51049315 [GRCh38]
Chr18:48575685 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.838T>G (p.Leu280Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181456] Chr18:51058390 [GRCh38]
Chr18:48584760 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1629G>C (p.Met543Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002402540]|Hereditary cancer-predisposing syndrome [RCV001182676]|Myhre syndrome [RCV002483994] Chr18:51078437 [GRCh38]
Chr18:48604807 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1347G>A (p.Gln449=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002379708]|Hereditary cancer-predisposing syndrome [RCV001183274]|Juvenile polyposis syndrome [RCV002068353] Chr18:51076676 [GRCh38]
Chr18:48603046 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447A>G (p.Ser483Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001184626]|Juvenile polyposis syndrome [RCV001876147]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004008473] Chr18:51076776 [GRCh38]
Chr18:48603146 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.399C>G (p.Tyr133Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319302] Chr18:51048835 [GRCh38]
Chr18:48575205 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.*6T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177747] Chr18:51078473 [GRCh38]
Chr18:48604843 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.178G>A (p.Ala60Thr) single nucleotide variant not provided [RCV001200415] Chr18:51047224 [GRCh38]
Chr18:48573594 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1610A>T (p.Asp537Val) single nucleotide variant Juvenile polyposis syndrome [RCV001204595] Chr18:51078418 [GRCh38]
Chr18:48604788 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+1704_1565del deletion Generalized juvenile polyposis/juvenile polyposis coli [RCV001212673] Chr18:51068889..51078371 [GRCh38]
Chr18:48595259..48604741 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1041T>G (p.Ile347Met) single nucleotide variant Juvenile polyposis syndrome [RCV001226855] Chr18:51065508 [GRCh38]
Chr18:48591878 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.793A>G (p.Thr265Ala) single nucleotide variant Juvenile polyposis syndrome [RCV001225851] Chr18:51058345 [GRCh38]
Chr18:48584715 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+10A>G single nucleotide variant Juvenile polyposis syndrome [RCV001216090] Chr18:51047305 [GRCh38]
Chr18:48573675 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.425-5T>G single nucleotide variant Juvenile polyposis syndrome [RCV001234611] Chr18:51049290 [GRCh38]
Chr18:48575660 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.805A>C (p.Thr269Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003163725]|Juvenile polyposis syndrome [RCV001222767] Chr18:51058357 [GRCh38]
Chr18:48584727 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.29C>T (p.Pro10Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001224928]|not provided [RCV001760217] Chr18:51047075 [GRCh38]
Chr18:48573445 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1160T>G (p.Val387Gly) single nucleotide variant Juvenile polyposis syndrome [RCV001203577] Chr18:51067039 [GRCh38]
Chr18:48593409 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.20C>G (p.Thr7Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001237501] Chr18:51047066 [GRCh38]
Chr18:48573436 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1627A>G (p.Met543Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002402672]|Hereditary cancer-predisposing syndrome [RCV003584854]|Juvenile polyposis syndrome [RCV001220975] Chr18:51078435 [GRCh38]
Chr18:48604805 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.191A>G (p.Asn64Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002411773]|Juvenile polyposis syndrome [RCV001210006] Chr18:51047237 [GRCh38]
Chr18:48573607 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1037C>G (p.Pro346Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001214571] Chr18:51065504 [GRCh38]
Chr18:48591874 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.828C>G (p.Tyr276Ter) single nucleotide variant Juvenile polyposis syndrome [RCV001204122] Chr18:51058380 [GRCh38]
Chr18:48584750 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.722C>T (p.Ala241Val) single nucleotide variant Juvenile polyposis syndrome [RCV001226154]|not provided [RCV001773511] Chr18:51058179 [GRCh38]
Chr18:48584549 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1574T>C (p.Ile525Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557473]|Juvenile polyposis syndrome [RCV001235994]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004570596] Chr18:51078382 [GRCh38]
Chr18:48604752 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.477G>C (p.Lys159Asn) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001232707] Chr18:51054803 [GRCh38]
Chr18:48581173 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.887C>T (p.Pro296Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557487]|Juvenile polyposis syndrome [RCV001246555] Chr18:51058439 [GRCh38]
Chr18:48584809 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1476TGA[1] (p.Asp494del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002393505]|Juvenile polyposis syndrome [RCV001215527] Chr18:51078284..51078286 [GRCh38]
Chr18:48604654..48604656 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.721G>A (p.Ala241Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002372707]|Hereditary cancer-predisposing syndrome [RCV001185840]|not provided [RCV000986029] Chr18:51058178 [GRCh38]
Chr18:48584548 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.823C>G (p.Pro275Ala) single nucleotide variant not provided [RCV000986032] Chr18:51058375 [GRCh38]
Chr18:48584745 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*704G>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124697]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124698]|Myhre syndrome [RCV001124696] Chr18:51079171 [GRCh38]
Chr18:48605541 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1661C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124908]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125878]|Myhre syndrome [RCV001125879] Chr18:51080128 [GRCh38]
Chr18:48606498 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*363C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001127707]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127708]|Myhre syndrome [RCV001127709] Chr18:51078830 [GRCh38]
Chr18:48605200 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2215C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125001]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125003]|Myhre syndrome [RCV001125002] Chr18:51080682 [GRCh38]
Chr18:48607052 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2099G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125000]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124999]|Myhre syndrome [RCV001122228] Chr18:51080566 [GRCh38]
Chr18:48606936 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3679A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122541]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122539]|Myhre syndrome [RCV001122540] Chr18:51082146 [GRCh38]
Chr18:48608516 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*332A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125622]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125621]|Myhre syndrome [RCV001125620] Chr18:51078799 [GRCh38]
Chr18:48605169 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5282T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122739]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122740]|Myhre syndrome [RCV001122738] Chr18:51083749 [GRCh38]
Chr18:48610119 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*720G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125700]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125701]|Myhre syndrome [RCV001125699] Chr18:51079187 [GRCh38]
Chr18:48605557 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4066C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001126299]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001126297]|Myhre syndrome [RCV001126298] Chr18:51082533 [GRCh38]
Chr18:48608903 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*605A>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124695]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124694]|Myhre syndrome [RCV001123625] Chr18:51079072 [GRCh38]
Chr18:48605442 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5710T>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001126587]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001128639]|Myhre syndrome [RCV001126588] Chr18:51084177 [GRCh38]
Chr18:48610547 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.626C>T (p.Thr209Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002365902]|Juvenile polyposis syndrome [RCV001201619] Chr18:51054952 [GRCh38]
Chr18:48581322 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.238G>A (p.Gly80Arg) single nucleotide variant not provided [RCV001200416] Chr18:51047284 [GRCh38]
Chr18:48573654 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.955+58C>T single nucleotide variant not provided [RCV001663025] Chr18:51059974 [GRCh38]
Chr18:48586344 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.-127-650C>T single nucleotide variant not provided [RCV001685796] Chr18:51046270 [GRCh38]
Chr18:48572640 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.1308+33_1308+34del deletion not provided [RCV001550653]|not specified [RCV002268513] Chr18:51067220..51067221 [GRCh38]
Chr18:48593590..48593591 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.692G>A (p.Gly231Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370240]|Juvenile polyposis syndrome [RCV003771792]|not provided [RCV001589928] Chr18:51058149 [GRCh38]
Chr18:48584519 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1069T>C (p.Ser357Pro) single nucleotide variant Juvenile polyposis syndrome [RCV003763071]|not provided [RCV002284803] Chr18:51065536 [GRCh38]
Chr18:48591906 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.758T>A (p.Phe253Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV002001715]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004011080] Chr18:51058215 [GRCh38]
Chr18:48584585 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.956-96T>C single nucleotide variant not provided [RCV001590347] Chr18:51065327 [GRCh38]
Chr18:48591697 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+5_667+6insCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGCATCAGGGCC insertion not provided [RCV001575267] Chr18:51054998..51054999 [GRCh38]
Chr18:48581368..48581369 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.232T>C (p.Leu78=) single nucleotide variant Juvenile polyposis syndrome [RCV001413059] Chr18:51047278 [GRCh38]
Chr18:48573648 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-7C>T single nucleotide variant Juvenile polyposis syndrome [RCV001464017] Chr18:51078249 [GRCh38]
Chr18:48604619 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.746A>C (p.Gln249Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258060]|Juvenile polyposis syndrome [RCV000939632]|SMAD4-related disorder [RCV003933205] Chr18:51058203 [GRCh38]
Chr18:48584573 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.747G>C (p.Gln249His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003169417]|Hereditary cancer-predisposing syndrome [RCV002258061]|Juvenile polyposis syndrome [RCV000939633]|SMAD4-related disorder [RCV003933206] Chr18:51058204 [GRCh38]
Chr18:48584574 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1389A>T (p.Ala463=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002390915]|Hereditary cancer-predisposing syndrome [RCV001180090]|Juvenile polyposis syndrome [RCV000919144] Chr18:51076718 [GRCh38]
Chr18:48603088 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.345T>C (p.Cys115=) single nucleotide variant Juvenile polyposis syndrome [RCV000932607] Chr18:51048781 [GRCh38]
Chr18:48575151 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.960T>C (p.Pro320=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002382198]|Juvenile polyposis syndrome [RCV000975838]|not provided [RCV003156301]|not specified [RCV001192754] Chr18:51065427 [GRCh38]
Chr18:48591797 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.648C>T (p.Asn216=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002363487]|Juvenile polyposis syndrome [RCV001439119] Chr18:51054974 [GRCh38]
Chr18:48581344 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.619A>G (p.Asn207Asp) single nucleotide variant not provided [RCV001760457] Chr18:51054945 [GRCh38]
Chr18:48581315 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.403C>A (p.Arg135=) single nucleotide variant Juvenile polyposis syndrome [RCV001406968] Chr18:51048839 [GRCh38]
Chr18:48575209 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140-6C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176331]|Juvenile polyposis syndrome [RCV001394479]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003188] Chr18:51067013 [GRCh38]
Chr18:48593383 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.282C>T (p.Ile94=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002434270]|Juvenile polyposis syndrome [RCV001505015] Chr18:51048718 [GRCh38]
Chr18:48575088 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1590C>T (p.His530=) single nucleotide variant Juvenile polyposis syndrome [RCV002068671] Chr18:51078398 [GRCh38]
Chr18:48604768 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*2217G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125985]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125983]|Myhre syndrome [RCV001125984] Chr18:51080684 [GRCh38]
Chr18:48607054 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4262T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001126300]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001126301]|Myhre syndrome [RCV001128352] Chr18:51082729 [GRCh38]
Chr18:48609099 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1061T>A (p.Val354Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187242] Chr18:51065528 [GRCh38]
Chr18:48591898 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.740G>A (p.Gly247Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183187]|Juvenile polyposis syndrome [RCV001876091]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004008356] Chr18:51058197 [GRCh38]
Chr18:48584567 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.825A>C (p.Pro275=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187787] Chr18:51058377 [GRCh38]
Chr18:48584747 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.520A>T (p.Thr174Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187950] Chr18:51054846 [GRCh38]
Chr18:48581216 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1599_1607del (p.Gln534_Leu536del) deletion Juvenile polyposis syndrome [RCV001236530] Chr18:51078404..51078412 [GRCh38]
Chr18:48604774..48604782 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1309-8C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188758] Chr18:51076630 [GRCh38]
Chr18:48603000 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1233T>C (p.Ser411=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003163464]|Hereditary cancer-predisposing syndrome [RCV001188829] Chr18:51067112 [GRCh38]
Chr18:48593482 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+6C>G single nucleotide variant Juvenile polyposis syndrome [RCV001214723] Chr18:51058462 [GRCh38]
Chr18:48584832 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.844C>T (p.His282Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV001227398]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003469399] Chr18:51058396 [GRCh38]
Chr18:48584766 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.569C>T (p.Ala190Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189304] Chr18:51054895 [GRCh38]
Chr18:48581265 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-504A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123129]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123131]|Myhre syndrome [RCV001123130] Chr18:51030247 [GRCh38]
Chr18:48556617 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2941A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001128178]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001128180]|Myhre syndrome [RCV001128179] Chr18:51081408 [GRCh38]
Chr18:48607778 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1448-1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557423]|Juvenile polyposis syndrome [RCV001213379] Chr18:51078255 [GRCh38]
Chr18:48604625 [GRCh37]
Chr18:18q21.2		 likely pathogenic|uncertain significance
NM_005359.6(SMAD4):c.788-10T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189352]|Juvenile polyposis syndrome [RCV001400790] Chr18:51058330 [GRCh38]
Chr18:48584700 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.*5745T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001128640]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001128642]|Myhre syndrome [RCV001128641] Chr18:51084212 [GRCh38]
Chr18:48610582 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.806C>G (p.Thr269Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001205766] Chr18:51058358 [GRCh38]
Chr18:48584728 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.125G>A (p.Ser42Asn) single nucleotide variant Juvenile polyposis syndrome [RCV001216773] Chr18:51047171 [GRCh38]
Chr18:48573541 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.787+1_788-1del deletion Hereditary cancer-predisposing syndrome [RCV001177592]|not provided [RCV001597249] Chr18:51058245..51058339 [GRCh38]
Chr18:48584615..48584709 [GRCh37]
Chr18:18q21.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005359.6(SMAD4):c.667+17G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189631]|Juvenile polyposis syndrome [RCV002069079] Chr18:51055010 [GRCh38]
Chr18:48581380 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+11G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189632] Chr18:51058467 [GRCh38]
Chr18:48584837 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-10del deletion Hereditary cancer-predisposing syndrome [RCV001189747] Chr18:51047033 [GRCh38]
Chr18:48573403 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5541G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001126474]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123829]|Myhre syndrome [RCV001126475] Chr18:51084008 [GRCh38]
Chr18:48610378 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.530A>T (p.His177Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001205987] Chr18:51054856 [GRCh38]
Chr18:48581226 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.976A>G (p.Ile326Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557485]|Juvenile polyposis syndrome [RCV001243893]|not provided [RCV001751489] Chr18:51065443 [GRCh38]
Chr18:48591813 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1103C>T (p.Ser368Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559889]|Juvenile polyposis syndrome [RCV001066183] Chr18:51065570 [GRCh38]
Chr18:48591940 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.956-7C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190005]|Juvenile polyposis syndrome [RCV001859139] Chr18:51065416 [GRCh38]
Chr18:48591786 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter) single nucleotide variant Juvenile polyposis syndrome [RCV001037387]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004031028] Chr18:51054859 [GRCh38]
Chr18:48581229 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.147G>C (p.Glu49Asp) single nucleotide variant Juvenile polyposis syndrome [RCV001224309] Chr18:51047193 [GRCh38]
Chr18:48573563 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.330A>G (p.Lys110=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002320412]|Hereditary cancer-predisposing syndrome [RCV001185626]|Juvenile polyposis syndrome [RCV001473073]|SMAD4-related disorder [RCV003945908] Chr18:51048766 [GRCh38]
Chr18:48575136 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.469A>G (p.Met157Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185664] Chr18:51054795 [GRCh38]
Chr18:48581165 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1550G>A (p.Ser517Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002402510]|Generalized juvenile polyposis/juvenile polyposis coli [RCV001124517]|Juvenile polyposis syndrome [RCV002556698]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124518]|Myhre syndrome [RCV001124519] Chr18:51078358 [GRCh38]
Chr18:48604728 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*245T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124613]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125616]|Myhre syndrome [RCV001125615] Chr18:51078712 [GRCh38]
Chr18:48605082 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668-18G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190750] Chr18:51058107 [GRCh38]
Chr18:48584477 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.538C>G (p.Gln180Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002348755]|Juvenile polyposis syndrome [RCV001224907] Chr18:51054864 [GRCh38]
Chr18:48581234 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.718A>G (p.Ile240Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180641] Chr18:51058175 [GRCh38]
Chr18:48584545 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3223A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001126204]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125228]|Myhre syndrome [RCV001126205] Chr18:51081690 [GRCh38]
Chr18:48608060 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-11T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191515] Chr18:51048675 [GRCh38]
Chr18:48575045 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-18T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179449]|Juvenile polyposis syndrome [RCV002068243] Chr18:51067001 [GRCh38]
Chr18:48593371 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.905-13G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001186861]|Juvenile polyposis syndrome [RCV002067976] Chr18:51059853 [GRCh38]
Chr18:48586223 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.250-10A>G single nucleotide variant Juvenile polyposis syndrome [RCV000934527]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004003264]|not provided [RCV001796316] Chr18:51048676 [GRCh38]
Chr18:48575046 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1353G>T (p.Ala451=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559792]|Juvenile polyposis syndrome [RCV001428313] Chr18:51076682 [GRCh38]
Chr18:48603052 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.250-4C>A single nucleotide variant Juvenile polyposis syndrome [RCV002235664]|not provided [RCV003478573] Chr18:51048682 [GRCh38]
Chr18:48575052 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.822A>C (p.Ala274=) single nucleotide variant not provided [RCV000986031] Chr18:51058374 [GRCh38]
Chr18:48584744 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.370G>C (p.Asp124His) single nucleotide variant not provided [RCV003231699] Chr18:51048806 [GRCh38]
Chr18:48575176 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.606C>T (p.Ala202=) single nucleotide variant Juvenile polyposis syndrome [RCV002072332]|not provided [RCV001593841] Chr18:51054932 [GRCh38]
Chr18:48581302 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.585C>A (p.Tyr195Ter) single nucleotide variant Juvenile polyposis syndrome [RCV002468905] Chr18:51054911 [GRCh38]
Chr18:48581281 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.781C>T (p.His261Tyr) single nucleotide variant not provided [RCV003235824] Chr18:51058238 [GRCh38]
Chr18:48584608 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.293T>G (p.Leu98Arg) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV002472029] Chr18:51048729 [GRCh38]
Chr18:48575099 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.413C>G (p.Ser138Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319320] Chr18:51048849 [GRCh38]
Chr18:48575219 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.425-3A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319338]|Juvenile polyposis syndrome [RCV003595655] Chr18:51049292 [GRCh38]
Chr18:48575662 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.358G>C (p.Asp120His) single nucleotide variant Juvenile polyposis syndrome [RCV001065742] Chr18:51048794 [GRCh38]
Chr18:48575164 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1139+44T>C single nucleotide variant not provided [RCV001655569]|not specified [RCV002268549] Chr18:51065650 [GRCh38]
Chr18:48592020 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.956-31G>A single nucleotide variant not provided [RCV001676179]|not specified [RCV002268556] Chr18:51065392 [GRCh38]
Chr18:48591762 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.-127-46C>T single nucleotide variant not provided [RCV001715210] Chr18:51046874 [GRCh38]
Chr18:48573244 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.926C>T (p.Ala309Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002409336]|Juvenile polyposis syndrome [RCV002549497]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003473585]|not specified [RCV001800928] Chr18:51059887 [GRCh38]
Chr18:48586257 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.424+159T>C single nucleotide variant not provided [RCV001620404] Chr18:51049019 [GRCh38]
Chr18:48575389 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.-128+89CGG[8] microsatellite not provided [RCV001718173] Chr18:51030711..51030712 [GRCh38]
Chr18:48557081..48557082 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.712T>C (p.Leu238=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002400205]|Juvenile polyposis syndrome [RCV001477238] Chr18:51058169 [GRCh38]
Chr18:48584539 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.469A>T (p.Met157Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187676]|Juvenile polyposis syndrome [RCV003117826] Chr18:51054795 [GRCh38]
Chr18:48581165 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+15C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001127539]|Juvenile polyposis syndrome [RCV002558220]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123415]|Myhre syndrome [RCV001123414] Chr18:51076791 [GRCh38]
Chr18:48603161 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1140-20A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188020]|Juvenile polyposis syndrome [RCV002068488] Chr18:51066999 [GRCh38]
Chr18:48593369 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-400C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124213]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124214]|Myhre syndrome [RCV001126897] Chr18:51030351 [GRCh38]
Chr18:48556721 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2675A>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125118]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125117]|Myhre syndrome [RCV001125119] Chr18:51081142 [GRCh38]
Chr18:48607512 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.761C>G (p.Thr254Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002427462] Chr18:51058218 [GRCh38]
Chr18:48584588 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.616T>G (p.Ser206Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002356849]|Hereditary cancer-predisposing syndrome [RCV001185173]|Juvenile polyposis syndrome [RCV003763827] Chr18:51054942 [GRCh38]
Chr18:48581312 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.454+12G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185415] Chr18:51049336 [GRCh38]
Chr18:48575706 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*5534C>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123827]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123826]|Myhre syndrome [RCV001123828] Chr18:51084001 [GRCh38]
Chr18:48610371 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5609T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123926]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123925]|Myhre syndrome [RCV001123924] Chr18:51084076 [GRCh38]
Chr18:48610446 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.31A>T (p.Thr11Ser) single nucleotide variant not specified [RCV001192752] Chr18:51047077 [GRCh38]
Chr18:48573447 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+16G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185474]|not specified [RCV003493812] Chr18:51047311 [GRCh38]
Chr18:48573681 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.51G>C (p.Leu17=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319408] Chr18:51047097 [GRCh38]
Chr18:48573467 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-401C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124212]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124210]|Myhre syndrome [RCV001124211] Chr18:51030350 [GRCh38]
Chr18:48556720 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.*259T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125617]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125618]|Myhre syndrome [RCV001125619] Chr18:51078726 [GRCh38]
Chr18:48605096 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.91G>A (p.Glu31Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185676] Chr18:51047137 [GRCh38]
Chr18:48573507 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.480T>C (p.Asp160=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189093]|Juvenile polyposis syndrome [RCV003763828] Chr18:51054806 [GRCh38]
Chr18:48581176 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1594G>T (p.Ala532Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189244] Chr18:51078402 [GRCh38]
Chr18:48604772 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1786A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125881]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125882]|Myhre syndrome [RCV001125880] Chr18:51080253 [GRCh38]
Chr18:48606623 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2897G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001128176]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001126087]|Myhre syndrome [RCV001128177] Chr18:51081364 [GRCh38]
Chr18:48607734 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1608T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124904]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124902]|Myhre syndrome [RCV001124903] Chr18:51080075 [GRCh38]
Chr18:48606445 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1659C>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124907]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124906]|Myhre syndrome [RCV001124905] Chr18:51080126 [GRCh38]
Chr18:48606496 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.250-4C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559914]|Hereditary cancer-predisposing syndrome [RCV001178716]|Juvenile polyposis syndrome [RCV002559750] Chr18:51048682 [GRCh38]
Chr18:48575052 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1101C>A (p.Leu367=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002429834]|Hereditary cancer-predisposing syndrome [RCV001189633]|Juvenile polyposis syndrome [RCV001471860]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010375]|SMAD4-related disorder [RCV003898187] Chr18:51065568 [GRCh38]
Chr18:48591938 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*5631A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001126584]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001126585]|Myhre syndrome [RCV001126586] Chr18:51084098 [GRCh38]
Chr18:48610468 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+11T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185473]|Juvenile polyposis syndrome [RCV002067966] Chr18:51047306 [GRCh38]
Chr18:48573676 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1198A>G (p.Arg400Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001190113]|Juvenile polyposis syndrome [RCV001876220] Chr18:51067077 [GRCh38]
Chr18:48593447 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.498del (p.Phe166fs) deletion Juvenile polyposis syndrome [RCV001044219] Chr18:51054822 [GRCh38]
Chr18:48581192 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.54C>T (p.Ser18=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319639] Chr18:51047100 [GRCh38]
Chr18:48573470 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.425-16C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001186275]|Juvenile polyposis syndrome [RCV002068432] Chr18:51049279 [GRCh38]
Chr18:48575649 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-9T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182828]|Juvenile polyposis syndrome [RCV001415620]|not provided [RCV001548606] Chr18:51078247 [GRCh38]
Chr18:48604617 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1448-14A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182916] Chr18:51078242 [GRCh38]
Chr18:48604612 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*5542C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001126476]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001126477]|Myhre syndrome [RCV001126478] Chr18:51084009 [GRCh38]
Chr18:48610379 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.464G>C (p.Ser155Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001068509] Chr18:51054790 [GRCh38]
Chr18:48581160 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-127G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001127300]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127301]|Myhre syndrome [RCV001127299] Chr18:51046920 [GRCh38]
Chr18:48573290 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.796A>G (p.Thr266Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002409407]|Hereditary cancer-predisposing syndrome [RCV001184136]|Juvenile polyposis syndrome [RCV001044709] Chr18:51058348 [GRCh38]
Chr18:48584718 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319239] Chr18:51048685 [GRCh38]
Chr18:48575055 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.*19C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001186409] Chr18:51078486 [GRCh38]
Chr18:48604856 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.690G>A (p.Gly230=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003163407]|Hereditary cancer-predisposing syndrome [RCV001179406]|Juvenile polyposis syndrome [RCV002555503] Chr18:51058147 [GRCh38]
Chr18:48584517 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*5833G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122954]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122955]|Myhre syndrome [RCV001122953] Chr18:51084300 [GRCh38]
Chr18:48610670 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002327231]|Hereditary cancer-predisposing syndrome [RCV001024458]|Juvenile polyposis syndrome [RCV001040401]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004004650]|not provided [RCV003442150] Chr18:51054898 [GRCh38]
Chr18:48581268 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.574A>G (p.Thr192Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002327234]|Juvenile polyposis syndrome [RCV001070800]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004004651] Chr18:51054900 [GRCh38]
Chr18:48581270 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319144]|Juvenile polyposis syndrome [RCV003762959] Chr18:51076710 [GRCh38]
Chr18:48603080 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.282C>A (p.Ile94=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319616] Chr18:51048718 [GRCh38]
Chr18:48575088 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.282C>G (p.Ile94Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179473] Chr18:51048718 [GRCh38]
Chr18:48575088 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1513A>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122136]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124901]|Myhre syndrome [RCV001122137] Chr18:51079980 [GRCh38]
Chr18:48606350 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1409C>T (p.Pro470Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319148] Chr18:51076738 [GRCh38]
Chr18:48603108 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.602T>C (p.Leu201Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002346227] Chr18:51054928 [GRCh38]
Chr18:48581298 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.608C>T (p.Pro203Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002354927]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003473600] Chr18:51054934 [GRCh38]
Chr18:48581304 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1465G>A (p.Gly489Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319150] Chr18:51078273 [GRCh38]
Chr18:48604643 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668-17_668-16insTAA insertion Hereditary cancer-predisposing syndrome [RCV001182595] Chr18:51058108..51058109 [GRCh38]
Chr18:48584478..48584479 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.294C>G (p.Leu98=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559916]|Hereditary cancer-predisposing syndrome [RCV001192210] Chr18:51048730 [GRCh38]
Chr18:48575100 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1078G>C (p.Asp360His) single nucleotide variant Juvenile polyposis syndrome [RCV001046338] Chr18:51065545 [GRCh38]
Chr18:48591915 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.10:g.(?_51030213)_(51078467_?)dup duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV001032219] Chr18:48556583..48604837 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.83A>G (p.Gln28Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002337071] Chr18:51047129 [GRCh38]
Chr18:48573499 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1427G>A (p.Gly476Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187018] Chr18:51076756 [GRCh38]
Chr18:48603126 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5553A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122833]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122834]|Myhre syndrome [RCV001122835] Chr18:51084020 [GRCh38]
Chr18:48610390 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1036C>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122027]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122026]|Myhre syndrome [RCV001122025] Chr18:51079503 [GRCh38]
Chr18:48605873 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1874C>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122227]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122225]|Myhre syndrome [RCV001122226]|not provided [RCV002511046] Chr18:51080341 [GRCh38]
Chr18:48606711 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.672G>A (p.Gln224=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002375054]|Juvenile polyposis syndrome [RCV001485662]|not specified [RCV001174745] Chr18:51058129 [GRCh38]
Chr18:48584499 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+17G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182378]|Juvenile polyposis syndrome [RCV002068315] Chr18:51058473 [GRCh38]
Chr18:48584843 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.645C>T (p.Pro215=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002354948]|Hereditary cancer-predisposing syndrome [RCV001025290]|Juvenile polyposis syndrome [RCV001447260]|not provided [RCV001759915] Chr18:51054971 [GRCh38]
Chr18:48581341 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1586T>C (p.Leu529Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319163] Chr18:51078394 [GRCh38]
Chr18:48604764 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.863_864insGAT (p.Leu288_Gln289insIle) insertion Familial thoracic aortic aneurysm and aortic dissection [RCV002354920] Chr18:51058414..51058415 [GRCh38]
Chr18:48584784..48584785 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3109T>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122445]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122446]|Myhre syndrome [RCV001125227] Chr18:51081576 [GRCh38]
Chr18:48607946 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3746A>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125332]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122542]|Myhre syndrome [RCV001125333] Chr18:51082213 [GRCh38]
Chr18:48608583 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-531G>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123128]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127195]|Myhre syndrome [RCV001123127] Chr18:51030220 [GRCh38]
Chr18:48556590 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-69G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123228]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123227]|Myhre syndrome [RCV001123229]|Myhre syndrome [RCV002482232] Chr18:51046978 [GRCh38]
Chr18:48573348 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5547A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001128535]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001128537]|Myhre syndrome [RCV001128536] Chr18:51084014 [GRCh38]
Chr18:48610384 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5549A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001128538]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001128539]|Myhre syndrome [RCV001128540] Chr18:51084016 [GRCh38]
Chr18:48610386 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*2561G>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122330]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122329]|Myhre syndrome [RCV001122328] Chr18:51081028 [GRCh38]
Chr18:48607398 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1386G>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001127889]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127888]|Myhre syndrome [RCV001127890] Chr18:51079853 [GRCh38]
Chr18:48606223 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.788-19T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182887]|Juvenile polyposis syndrome [RCV002068339] Chr18:51058321 [GRCh38]
Chr18:48584691 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1630C>A (p.Pro544Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319168] Chr18:51078438 [GRCh38]
Chr18:48604808 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.284A>G (p.Tyr95Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187479] Chr18:51048720 [GRCh38]
Chr18:48575090 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.746A>G (p.Gln249Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002393430]|Hereditary cancer-predisposing syndrome [RCV001187496] Chr18:51058203 [GRCh38]
Chr18:48584573 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.915C>A (p.His305Gln) single nucleotide variant Juvenile polyposis syndrome [RCV001049795] Chr18:51059876 [GRCh38]
Chr18:48586246 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.797C>T (p.Thr266Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181751]|Juvenile polyposis syndrome [RCV003769992] Chr18:51058349 [GRCh38]
Chr18:48584719 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.515T>C (p.Leu172Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319405] Chr18:51054841 [GRCh38]
Chr18:48581211 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1239C>G (p.Tyr413Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318929]|Juvenile polyposis syndrome [RCV002549319] Chr18:51067118 [GRCh38]
Chr18:48593488 [GRCh37]
Chr18:18q21.2		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_005359.6(SMAD4):c.560G>C (p.Ser187Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001048011] Chr18:51054886 [GRCh38]
Chr18:48581256 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+96_1308+102del deletion not provided [RCV001652143] Chr18:51067280..51067286 [GRCh38]
Chr18:48593650..48593656 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.541A>G (p.Thr181Ala) single nucleotide variant Juvenile polyposis syndrome [RCV001048745]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004004790] Chr18:51054867 [GRCh38]
Chr18:48581237 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+214TTTA[7] microsatellite not provided [RCV001583911] Chr18:51067400..51067401 [GRCh38]
Chr18:48593770..48593771 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1490G>A (p.Arg497His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002393579]|Juvenile polyposis syndrome [RCV001232926] Chr18:51078298 [GRCh38]
Chr18:48604668 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.787+2T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002409459]|Generalized juvenile polyposis/juvenile polyposis coli [RCV001056035]|Juvenile polyposis syndrome [RCV001376554] Chr18:51058246 [GRCh38]
Chr18:48584616 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.557C>T (p.Pro186Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001068532] Chr18:51054883 [GRCh38]
Chr18:48581253 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.789C>G (p.Asn263Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002434417]|Hereditary cancer-predisposing syndrome [RCV003584799]|Juvenile polyposis syndrome [RCV001372187] Chr18:51058341 [GRCh38]
Chr18:48584711 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.791G>A (p.Ser264Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002434419] Chr18:51058343 [GRCh38]
Chr18:48584713 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.794C>G (p.Thr265Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002434422] Chr18:51058346 [GRCh38]
Chr18:48584716 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.37A>G (p.Asn13Asp) single nucleotide variant Juvenile polyposis syndrome [RCV001236702] Chr18:51047083 [GRCh38]
Chr18:48573453 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1072G>A (p.Gly358Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001038580] Chr18:51065539 [GRCh38]
Chr18:48591909 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.574A>T (p.Thr192Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001214828] Chr18:51054900 [GRCh38]
Chr18:48581270 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.513G>C (p.Ser171=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319404]|Juvenile polyposis syndrome [RCV002551878] Chr18:51054839 [GRCh38]
Chr18:48581209 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001201291] Chr18:51054828 [GRCh38]
Chr18:48581198 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1060G>A (p.Val354Met) single nucleotide variant Juvenile polyposis syndrome [RCV001213759]|Vascular dementia [RCV002051727] Chr18:51065527 [GRCh38]
Chr18:48591897 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1297G>A (p.Ala433Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318935] Chr18:51067176 [GRCh38]
Chr18:48593546 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.925G>A (p.Ala309Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001231542] Chr18:51059886 [GRCh38]
Chr18:48586256 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1311del (p.Phe438fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002318937] Chr18:51076640 [GRCh38]
Chr18:48603010 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1320G>A (p.Leu440=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318940]|Juvenile polyposis syndrome [RCV001424459]|not specified [RCV002268402] Chr18:51076649 [GRCh38]
Chr18:48603019 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1565C>T (p.Pro522Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557429]|Juvenile polyposis syndrome [RCV001217189] Chr18:51078373 [GRCh38]
Chr18:48604743 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.652C>T (p.Pro218Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002354957]|Hereditary cancer-predisposing syndrome [RCV001025373] Chr18:51054978 [GRCh38]
Chr18:48581348 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1563A>G (p.Thr521=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319161]|Juvenile polyposis syndrome [RCV001403391] Chr18:51078371 [GRCh38]
Chr18:48604741 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1558G>C (p.Glu520Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319162]|Juvenile polyposis syndrome [RCV002551756] Chr18:51078366 [GRCh38]
Chr18:48604736 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.659C>T (p.Ala220Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002365968]|Juvenile polyposis syndrome [RCV001215358] Chr18:51054985 [GRCh38]
Chr18:48581355 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.529C>T (p.His177Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV001059374] Chr18:51054855 [GRCh38]
Chr18:48581225 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.635C>T (p.Ala212Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002365909]|Juvenile polyposis syndrome [RCV001202355]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004570418] Chr18:51054961 [GRCh38]
Chr18:48581331 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.690G>C (p.Gly230=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002391077] Chr18:51058147 [GRCh38]
Chr18:48584517 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*1315G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125784]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127886]|Myhre syndrome [RCV001127887] Chr18:51079782 [GRCh38]
Chr18:48606152 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.631A>G (p.Thr211Ala) single nucleotide variant Juvenile polyposis syndrome [RCV001232852] Chr18:51054957 [GRCh38]
Chr18:48581327 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1283A>G (p.Lys428Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001205774] Chr18:51067162 [GRCh38]
Chr18:48593532 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.745_746delinsAG (p.Gln249Arg) indel Familial thoracic aortic aneurysm and aortic dissection [RCV002416307]|Juvenile polyposis syndrome [RCV001059602]|not provided [RCV003478658] Chr18:51058202..51058203 [GRCh38]
Chr18:48584572..48584573 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.17T>C (p.Ile6Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319177]|Hereditary cancer-predisposing syndrome [RCV001013227]|Juvenile polyposis syndrome [RCV002549386]|not provided [RCV003225139] Chr18:51047063 [GRCh38]
Chr18:48573433 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3226G>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001126207]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001126208]|Myhre syndrome [RCV001126206] Chr18:51081693 [GRCh38]
Chr18:48608063 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.653C>T (p.Pro218Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001228993] Chr18:51054979 [GRCh38]
Chr18:48581349 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1348C>T (p.Gln450Ter) single nucleotide variant Juvenile polyposis syndrome [RCV001039715] Chr18:51076677 [GRCh38]
Chr18:48603047 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.186T>C (p.Thr62=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319180] Chr18:51047232 [GRCh38]
Chr18:48573602 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1136C>T (p.Ala379Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318910] Chr18:51065603 [GRCh38]
Chr18:48591973 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1131G>A (p.Glu377=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318911] Chr18:51065598 [GRCh38]
Chr18:48591968 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.544A>G (p.Ile182Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559874]|Hereditary cancer-predisposing syndrome [RCV002258110]|Juvenile polyposis syndrome [RCV001054094]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004000066] Chr18:51054870 [GRCh38]
Chr18:48581240 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1196T>A (p.Val399Asp) single nucleotide variant Juvenile polyposis syndrome [RCV001064161] Chr18:51067075 [GRCh38]
Chr18:48593445 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*6522C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123051]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123053]|Myhre syndrome [RCV001123052]|not provided [RCV002275295] Chr18:51084989 [GRCh38]
Chr18:48611359 [GRCh37]
Chr18:18q21.2		 benign|uncertain significance
NM_005359.6(SMAD4):c.820G>A (p.Ala274Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002445190]|Hereditary cancer-predisposing syndrome [RCV001027287] Chr18:51058372 [GRCh38]
Chr18:48584742 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*170A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123530]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123528]|Myhre syndrome [RCV001123529] Chr18:51078637 [GRCh38]
Chr18:48605007 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_005359.6(SMAD4):c.802T>C (p.Trp268Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003163389]|Hereditary cancer-predisposing syndrome [RCV001175729]|Juvenile polyposis syndrome [RCV001229275] Chr18:51058354 [GRCh38]
Chr18:48584724 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*579G>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123621]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123620]|Myhre syndrome [RCV001123619] Chr18:51079046 [GRCh38]
Chr18:48605416 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1230G>A (p.Gln410=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318927]|Juvenile polyposis syndrome [RCV001441568] Chr18:51067109 [GRCh38]
Chr18:48593479 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*969A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001127802]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122023]|Myhre syndrome [RCV001122024] Chr18:51079436 [GRCh38]
Chr18:48605806 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*1502T>C single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122135]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122133]|Myhre syndrome [RCV001122134] Chr18:51079969 [GRCh38]
Chr18:48606339 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*936A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001127800]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001127799]|Myhre syndrome [RCV001127801] Chr18:51079403 [GRCh38]
Chr18:48605773 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.547C>T (p.Gln183Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002348352]|Juvenile polyposis syndrome [RCV001040938] Chr18:51054873 [GRCh38]
Chr18:48581243 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.584A>C (p.Tyr195Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183947] Chr18:51054910 [GRCh38]
Chr18:48581280 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.424+3A>G single nucleotide variant Juvenile polyposis syndrome [RCV001230618] Chr18:51048863 [GRCh38]
Chr18:48575233 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1206T>C (p.Leu402=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318919]|Juvenile polyposis syndrome [RCV001466806] Chr18:51067085 [GRCh38]
Chr18:48593455 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*3662C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122536]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122537]|Myhre syndrome [RCV001122538] Chr18:51082129 [GRCh38]
Chr18:48608499 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.1201T>C (p.Cys401Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001051227] Chr18:51067080 [GRCh38]
Chr18:48593450 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1380C>T (p.Ala460=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002379684]|Hereditary cancer-predisposing syndrome [RCV001177128]|Juvenile polyposis syndrome [RCV003769897] Chr18:51076709 [GRCh38]
Chr18:48603079 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1269A>G (p.Gly423=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002318933]|Juvenile polyposis syndrome [RCV001414248] Chr18:51067148 [GRCh38]
Chr18:48593518 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*5555A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122838]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122836]|Myhre syndrome [RCV001122837] Chr18:51084022 [GRCh38]
Chr18:48610392 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*5557A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123922]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123923]|Myhre syndrome [RCV001122839] Chr18:51084024 [GRCh38]
Chr18:48610394 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1067del (p.Pro356fs) deletion Juvenile polyposis syndrome [RCV001051494]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004031602] Chr18:51065532 [GRCh38]
Chr18:48591902 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.27A>T (p.Thr9=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319255] Chr18:51047073 [GRCh38]
Chr18:48573443 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1540_1541delinsTT (p.Pro514Leu) indel Familial thoracic aortic aneurysm and aortic dissection [RCV002400294]|Juvenile polyposis syndrome [RCV001051545]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003473644] Chr18:51078348..51078349 [GRCh38]
Chr18:48604718..48604719 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.3G>A (p.Met1Ile) single nucleotide variant Juvenile polyposis syndrome [RCV001204996] Chr18:51047049 [GRCh38]
Chr18:48573419 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319625]|Juvenile polyposis syndrome [RCV002549446] Chr18:51065495 [GRCh38]
Chr18:48591865 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.*580A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001123622]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001123624]|Myhre syndrome [RCV001123623] Chr18:51079047 [GRCh38]
Chr18:48605417 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-5C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002327229]|Hereditary cancer-predisposing syndrome [RCV001017434]|Juvenile polyposis syndrome [RCV001071656] Chr18:51067014 [GRCh38]
Chr18:48593384 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1144C>T (p.His382Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002327230] Chr18:51067023 [GRCh38]
Chr18:48593393 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1456G>C (p.Ala486Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319152] Chr18:51078264 [GRCh38]
Chr18:48604634 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1304_1305dup (p.Lys436Ter) microsatellite Juvenile polyposis syndrome [RCV001042217] Chr18:51067177..51067178 [GRCh38]
Chr18:48593547..48593548 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1521A>G (p.Lys507=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319158]|Juvenile polyposis syndrome [RCV002068847] Chr18:51078329 [GRCh38]
Chr18:48604699 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*1141A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001124793]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001124792]|Myhre syndrome [RCV001124791] Chr18:51079608 [GRCh38]
Chr18:48605978 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1595C>A (p.Ala532Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319165]|Juvenile polyposis syndrome [RCV001860701]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV002225124]|SMAD4-related disorder [RCV003396597] Chr18:51078403 [GRCh38]
Chr18:48604773 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.907C>T (p.Pro303Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002382249]|Juvenile polyposis syndrome [RCV001299657] Chr18:51059868 [GRCh38]
Chr18:48586238 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.217dup (p.Thr73fs) duplication Juvenile polyposis syndrome [RCV001057019] Chr18:51047262..51047263 [GRCh38]
Chr18:48573632..48573633 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.*1499T>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122132]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001122130]|Myhre syndrome [RCV001122131] Chr18:51079966 [GRCh38]
Chr18:48606336 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.687G>C (p.Leu229=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002382257]|Juvenile polyposis syndrome [RCV002067691] Chr18:51058144 [GRCh38]
Chr18:48584514 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.689G>C (p.Gly230Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002391076]|Juvenile polyposis syndrome [RCV001873400] Chr18:51058146 [GRCh38]
Chr18:48584516 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.*3950A>G single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125336]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125334]|Myhre syndrome [RCV001125335] Chr18:51082417 [GRCh38]
Chr18:48608787 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1648C>T (p.Pro550Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002393504]|Juvenile polyposis syndrome [RCV001215522] Chr18:51078456 [GRCh38]
Chr18:48604826 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.717G>C (p.Gln239His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002409347]|Hereditary cancer-predisposing syndrome [RCV001026123]|Juvenile polyposis syndrome [RCV001237884] Chr18:51058174 [GRCh38]
Chr18:48584544 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.723A>G (p.Ala241=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002416294]|Hereditary cancer-predisposing syndrome [RCV001026186]|Juvenile polyposis syndrome [RCV001463248] Chr18:51058180 [GRCh38]
Chr18:48584550 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*745C>T single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001125703]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001125704]|Myhre syndrome [RCV001125702] Chr18:51079212 [GRCh38]
Chr18:48605582 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*4707G>A single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001122634]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001128353]|Myhre syndrome [RCV001122635] Chr18:51083174 [GRCh38]
Chr18:48609544 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.788-6T>C single nucleotide variant not specified [RCV001255601] Chr18:51058334 [GRCh38]
Chr18:48584704 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.804G>C (p.Trp268Cys) single nucleotide variant Juvenile polyposis syndrome [RCV001294493] Chr18:51058356 [GRCh38]
Chr18:48584726 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002447241]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001262037] Chr18:51048739 [GRCh38]
Chr18:48575109 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.750G>C (p.Gln250His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258197]|Juvenile polyposis syndrome [RCV001319529] Chr18:51058207 [GRCh38]
Chr18:48584577 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1375G>A (p.Ala459Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584905]|Juvenile polyposis syndrome [RCV001350506] Chr18:51076704 [GRCh38]
Chr18:48603074 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.734A>G (p.Gln245Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001339176] Chr18:51058191 [GRCh38]
Chr18:48584561 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.827A>C (p.Tyr276Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001342610] Chr18:51058379 [GRCh38]
Chr18:48584749 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.841C>T (p.Pro281Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001302163] Chr18:51058393 [GRCh38]
Chr18:48584763 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.377T>C (p.Val126Ala) single nucleotide variant Juvenile polyposis syndrome [RCV001299451] Chr18:51048813 [GRCh38]
Chr18:48575183 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.827A>T (p.Tyr276Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003166685]|Juvenile polyposis syndrome [RCV001299738]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004004990]|Myhre syndrome [RCV002499555]|not provided [RCV003120542] Chr18:51058379 [GRCh38]
Chr18:48584749 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1570T>C (p.Trp524Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001327640] Chr18:51078378 [GRCh38]
Chr18:48604748 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1241del (p.Tyr413_Leu414insTer) deletion Colorectal cancer [RCV001293846] Chr18:51067119 [GRCh38]
Chr18:48593489 [GRCh37]
Chr18:18q21.2		 pathogenic
NC_000018.10:g.(?_51030213)_(51078467_?)dup duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV001032219]|Juvenile polyposis syndrome [RCV001308944] Chr18:48556583..48604837 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.604G>A (p.Ala202Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001348936] Chr18:51054930 [GRCh38]
Chr18:48581300 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1637C>T (p.Ala546Val) single nucleotide variant Juvenile polyposis syndrome [RCV001319058] Chr18:51078445 [GRCh38]
Chr18:48604815 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.955+5G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524017]|Juvenile polyposis syndrome [RCV001300042]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003462862] Chr18:51059921 [GRCh38]
Chr18:48586291 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1628T>G (p.Met543Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001326474] Chr18:51078436 [GRCh38]
Chr18:48604806 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.609A>C (p.Pro203=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002357314]|Juvenile polyposis syndrome [RCV001397149] Chr18:51054935 [GRCh38]
Chr18:48581305 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.993G>A (p.Met331Ile) single nucleotide variant Juvenile polyposis syndrome [RCV001295295] Chr18:51065460 [GRCh38]
Chr18:48591830 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+11G>A single nucleotide variant Juvenile polyposis syndrome [RCV003761391]|not provided [RCV001529183] Chr18:51058467 [GRCh38]
Chr18:48584837 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-5T>A single nucleotide variant Juvenile polyposis syndrome [RCV001397378] Chr18:51054776 [GRCh38]
Chr18:48581146 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.540A>C (p.Gln180His) single nucleotide variant Juvenile polyposis syndrome [RCV001350975] Chr18:51054866 [GRCh38]
Chr18:48581236 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1183G>C (p.Gly395Arg) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001356366] Chr18:51067062 [GRCh38]
Chr18:48593432 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-10A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799323]|Familial thoracic aortic aneurysm and aortic dissection [RCV004558654] Chr18:51048676 [GRCh38]
Chr18:48575046 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1154A>G (p.Lys385Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001305739] Chr18:51067033 [GRCh38]
Chr18:48593403 [GRCh37]
Chr18:18q21.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_005359.6(SMAD4):c.827A>G (p.Tyr276Cys) single nucleotide variant Juvenile polyposis syndrome [RCV001360917] Chr18:51058379 [GRCh38]
Chr18:48584749 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1237T>G (p.Tyr413Asp) single nucleotide variant Juvenile polyposis syndrome [RCV001294924] Chr18:51067116 [GRCh38]
Chr18:48593486 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1590C>G (p.His530Gln) single nucleotide variant Juvenile polyposis syndrome [RCV001362798]|not provided [RCV001762624] Chr18:51078398 [GRCh38]
Chr18:48604768 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.462A>G (p.Ser154=) single nucleotide variant Juvenile polyposis syndrome [RCV001392477] Chr18:51054788 [GRCh38]
Chr18:48581158 [GRCh37]
Chr18:18q21.2		 likely benign
NC_000018.9:g.(?_48556583)_(48603156_?)dup duplication Generalized juvenile polyposis/juvenile polyposis coli [RCV000809303]|Juvenile polyposis syndrome [RCV001319823] Chr18:48556583..48603156 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.874C>G (p.Pro292Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001806105]|Juvenile polyposis syndrome [RCV001303153] Chr18:51058426 [GRCh38]
Chr18:48584796 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.409G>A (p.Val137Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002322252]|Juvenile polyposis syndrome [RCV001325274] Chr18:51048845 [GRCh38]
Chr18:48575215 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.332A>G (p.His111Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002322192]|Juvenile polyposis syndrome [RCV001297845] Chr18:51048768 [GRCh38]
Chr18:48575138 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1413C>A (p.Gly471=) single nucleotide variant not provided [RCV001310388] Chr18:51076742 [GRCh38]
Chr18:48603112 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+4G>A single nucleotide variant Juvenile polyposis syndrome [RCV001324144] Chr18:51049328 [GRCh38]
Chr18:48575698 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.553C>T (p.Pro185Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001372234]|not provided [RCV003738056] Chr18:51054879 [GRCh38]
Chr18:48581249 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.360C>G (p.Asp120Glu) single nucleotide variant Juvenile polyposis syndrome [RCV001326786] Chr18:51048796 [GRCh38]
Chr18:48575166 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.643C>G (p.Pro215Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002368139]|Juvenile polyposis syndrome [RCV001346162] Chr18:51054969 [GRCh38]
Chr18:48581339 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.937C>A (p.Pro313Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002447458]|Juvenile polyposis syndrome [RCV001361586] Chr18:51059898 [GRCh38]
Chr18:48586268 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1505G>A (p.Arg502Lys) single nucleotide variant Juvenile polyposis syndrome [RCV001317835] Chr18:51078313 [GRCh38]
Chr18:48604683 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.240G>T (p.Gly80=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557517]|Juvenile polyposis syndrome [RCV001300662] Chr18:51047286 [GRCh38]
Chr18:48573656 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.932A>G (p.Gln311Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002377466]|Hereditary cancer-predisposing syndrome [RCV002258212]|Juvenile polyposis syndrome [RCV001345423]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004005197] Chr18:51059893 [GRCh38]
Chr18:48586263 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1529G>A (p.Gly510Glu) single nucleotide variant Juvenile polyposis syndrome [RCV001299559] Chr18:51078337 [GRCh38]
Chr18:48604707 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.909T>A (p.Pro303=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002377461]|Juvenile polyposis syndrome [RCV001344463] Chr18:51059870 [GRCh38]
Chr18:48586240 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1232G>A (p.Ser411Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002368176]|Juvenile polyposis syndrome [RCV001363849] Chr18:51067111 [GRCh38]
Chr18:48593481 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1207A>G (p.Ser403Gly) single nucleotide variant Juvenile polyposis syndrome [RCV001364554] Chr18:51067086 [GRCh38]
Chr18:48593456 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.542C>A (p.Thr181Asn) single nucleotide variant Juvenile polyposis syndrome [RCV001341807] Chr18:51054868 [GRCh38]
Chr18:48581238 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1070C>T (p.Ser357Phe) single nucleotide variant Juvenile polyposis syndrome [RCV001366203] Chr18:51065537 [GRCh38]
Chr18:48591907 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.934C>T (p.Pro312Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001366233] Chr18:51059895 [GRCh38]
Chr18:48586265 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.642T>G (p.Phe214Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001366234] Chr18:51054968 [GRCh38]
Chr18:48581338 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTA (p.Trp268delinsCysTer) insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV001335262] Chr18:51058355..51058356 [GRCh38]
Chr18:48584725..48584726 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1042G>A (p.Val348Ile) single nucleotide variant Juvenile polyposis syndrome [RCV001299537] Chr18:51065509 [GRCh38]
Chr18:48591879 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1448-33T>A single nucleotide variant not provided [RCV001813163]|not specified [RCV002268464] Chr18:51078223 [GRCh38]
Chr18:48604593 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1112A>G (p.His371Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001314680] Chr18:51065579 [GRCh38]
Chr18:48591949 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.43G>A (p.Ala15Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001360486] Chr18:51047089 [GRCh38]
Chr18:48573459 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.473T>A (p.Val158Glu) single nucleotide variant Juvenile polyposis syndrome [RCV001300167] Chr18:51054799 [GRCh38]
Chr18:48581169 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1592G>A (p.Arg531Gln) single nucleotide variant Juvenile polyposis syndrome [RCV001303248] Chr18:51078400 [GRCh38]
Chr18:48604770 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.444G>T (p.Leu148=) single nucleotide variant Juvenile polyposis syndrome [RCV001421364]|SMAD4-related disorder [RCV003973269] Chr18:51049314 [GRCh38]
Chr18:48575684 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.787+10T>C single nucleotide variant Juvenile polyposis syndrome [RCV001395398] Chr18:51058254 [GRCh38]
Chr18:48584624 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.680G>A (p.Ser227Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557530]|Juvenile polyposis syndrome [RCV001315123] Chr18:51058137 [GRCh38]
Chr18:48584507 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.425-4T>G single nucleotide variant Juvenile polyposis syndrome [RCV001369277] Chr18:51049291 [GRCh38]
Chr18:48575661 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter) single nucleotide variant Carcinoma of colon [RCV001358302] Chr18:51058190 [GRCh38]
Chr18:48584560 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1139+12A>G single nucleotide variant Juvenile polyposis syndrome [RCV002547614]|Malignant tumor of breast [RCV001355637] Chr18:51065618 [GRCh38]
Chr18:48591988 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.564T>G (p.Asn188Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003169583]|Juvenile polyposis syndrome [RCV001337502]|not provided [RCV002307730] Chr18:51054890 [GRCh38]
Chr18:48581260 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1309-10T>C single nucleotide variant Juvenile polyposis syndrome [RCV001482581] Chr18:51076628 [GRCh38]
Chr18:48602998 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1656C>T (p.Asp552=) single nucleotide variant Juvenile polyposis syndrome [RCV001487684] Chr18:51078464 [GRCh38]
Chr18:48604834 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.102A>T (p.Thr34=) single nucleotide variant Juvenile polyposis syndrome [RCV001451831] Chr18:51047148 [GRCh38]
Chr18:48573518 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.897A>C (p.Gly299=) single nucleotide variant Juvenile polyposis syndrome [RCV001452309] Chr18:51058449 [GRCh38]
Chr18:48584819 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1455A>C (p.Ser485=) single nucleotide variant Juvenile polyposis syndrome [RCV001439608] Chr18:51078263 [GRCh38]
Chr18:48604633 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1380C>A (p.Ala460=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557691]|Juvenile polyposis syndrome [RCV001469519] Chr18:51076709 [GRCh38]
Chr18:48603079 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.968G>A (p.Trp323Ter) single nucleotide variant Juvenile polyposis syndrome [RCV001390654] Chr18:51065435 [GRCh38]
Chr18:48591805 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.513G>T (p.Ser171=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002351007]|Juvenile polyposis syndrome [RCV001486941] Chr18:51054839 [GRCh38]
Chr18:48581209 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1122A>G (p.Glu374=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002439033]|Juvenile polyposis syndrome [RCV001439788] Chr18:51065589 [GRCh38]
Chr18:48591959 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.956-9T>C single nucleotide variant Juvenile polyposis syndrome [RCV001474508] Chr18:51065414 [GRCh38]
Chr18:48591784 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.132A>T (p.Val44=) single nucleotide variant Juvenile polyposis syndrome [RCV001467373] Chr18:51047178 [GRCh38]
Chr18:48573548 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1139+446del deletion not provided [RCV001538895] Chr18:51066050 [GRCh38]
Chr18:48592420 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.455-4A>T single nucleotide variant Juvenile polyposis syndrome [RCV001448560] Chr18:51054777 [GRCh38]
Chr18:48581147 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.945C>G (p.Ser315=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557642]|Juvenile polyposis syndrome [RCV001435747] Chr18:51059906 [GRCh38]
Chr18:48586276 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.779dup (p.Tyr260Ter) duplication Juvenile polyposis syndrome [RCV001387448] Chr18:51058235..51058236 [GRCh38]
Chr18:48584605..48584606 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.546C>T (p.Ile182=) single nucleotide variant Juvenile polyposis syndrome [RCV001407063] Chr18:51054872 [GRCh38]
Chr18:48581242 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-8T>G single nucleotide variant Juvenile polyposis syndrome [RCV001399940] Chr18:51058117 [GRCh38]
Chr18:48584487 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+10C>G single nucleotide variant Juvenile polyposis syndrome [RCV001409989] Chr18:51076786 [GRCh38]
Chr18:48603156 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.223del (p.Gln75fs) deletion Juvenile polyposis syndrome [RCV001388316] Chr18:51047269 [GRCh38]
Chr18:48573639 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1447+7A>G single nucleotide variant Juvenile polyposis syndrome [RCV001441229] Chr18:51076783 [GRCh38]
Chr18:48603153 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.441A>G (p.Thr147=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002329469]|Juvenile polyposis syndrome [RCV001425937] Chr18:51049311 [GRCh38]
Chr18:48575681 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1398A>G (p.Ala466=) single nucleotide variant Juvenile polyposis syndrome [RCV001440061] Chr18:51076727 [GRCh38]
Chr18:48603097 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1137A>G (p.Ala379=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557661]|Juvenile polyposis syndrome [RCV001447501] Chr18:51065604 [GRCh38]
Chr18:48591974 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1494dup (p.Cys499fs) duplication Juvenile polyposis syndrome [RCV001388514] Chr18:51078301..51078302 [GRCh38]
Chr18:48604671..48604672 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.455-6A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584922]|Juvenile polyposis syndrome [RCV001401342] Chr18:51054775 [GRCh38]
Chr18:48581145 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1224T>C (p.Phe408=) single nucleotide variant Juvenile polyposis syndrome [RCV001445190] Chr18:51067103 [GRCh38]
Chr18:48593473 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.563del (p.Asn188fs) deletion Juvenile polyposis syndrome [RCV001391007] Chr18:51054888 [GRCh38]
Chr18:48581258 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1140-8T>A single nucleotide variant Juvenile polyposis syndrome [RCV001401752] Chr18:51067011 [GRCh38]
Chr18:48593381 [GRCh37]
Chr18:18q21.2		 likely benign
NC_000018.9:g.(?_48604616)_(48604837_?)del deletion Juvenile polyposis syndrome [RCV001382023] Chr18:48604616..48604837 [GRCh37]
Chr18:18q21.2		 pathogenic
NC_000018.9:g.(?_48593383)_(48604842_?)del deletion Juvenile polyposis syndrome [RCV001382024] Chr18:48593383..48604842 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.905-7_905-3del microsatellite Juvenile polyposis syndrome [RCV001432319] Chr18:51059854..51059858 [GRCh38]
Chr18:48586224..48586228 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.828C>T (p.Tyr276=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524745]|Juvenile polyposis syndrome [RCV002568076] Chr18:51058380 [GRCh38]
Chr18:48584750 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.568G>C (p.Ala190Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525030] Chr18:51054894 [GRCh38]
Chr18:48581264 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1434A>C (p.Ile478=) single nucleotide variant Juvenile polyposis syndrome [RCV001450370] Chr18:51076763 [GRCh38]
Chr18:48603133 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.891T>C (p.His297=) single nucleotide variant Juvenile polyposis syndrome [RCV001494649] Chr18:51058443 [GRCh38]
Chr18:48584813 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+242del deletion not provided [RCV001692921] Chr18:51049560 [GRCh38]
Chr18:48575930 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.1266T>C (p.Pro422=) single nucleotide variant Juvenile polyposis syndrome [RCV001457573] Chr18:51067145 [GRCh38]
Chr18:48593515 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.-127-14T>C single nucleotide variant not provided [RCV001691086] Chr18:51046906 [GRCh38]
Chr18:48573276 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.195A>C (p.Gly65=) single nucleotide variant Juvenile polyposis syndrome [RCV001496373] Chr18:51047241 [GRCh38]
Chr18:48573611 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.6C>T (p.Asp2=) single nucleotide variant Juvenile polyposis syndrome [RCV001452135] Chr18:51047052 [GRCh38]
Chr18:48573422 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1227A>G (p.Val409=) single nucleotide variant Juvenile polyposis syndrome [RCV001480327] Chr18:51067106 [GRCh38]
Chr18:48593476 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1452G>A (p.Leu484=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557705]|Juvenile polyposis syndrome [RCV001477103] Chr18:51078260 [GRCh38]
Chr18:48604630 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+9T>A single nucleotide variant Juvenile polyposis syndrome [RCV001466887] Chr18:51049333 [GRCh38]
Chr18:48575703 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1658G>A (p.Ter553=) single nucleotide variant Juvenile polyposis syndrome [RCV001466990] Chr18:51078466 [GRCh38]
Chr18:48604836 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.956-9T>G single nucleotide variant Juvenile polyposis syndrome [RCV001488280] Chr18:51065414 [GRCh38]
Chr18:48591784 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.933G>A (p.Gln311=) single nucleotide variant Juvenile polyposis syndrome [RCV001501210] Chr18:51059894 [GRCh38]
Chr18:48586264 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.258T>G (p.Gly86=) single nucleotide variant Juvenile polyposis syndrome [RCV001490402] Chr18:51048694 [GRCh38]
Chr18:48575064 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.915C>T (p.His305=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002377786]|Juvenile polyposis syndrome [RCV001464146]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007093] Chr18:51059876 [GRCh38]
Chr18:48586246 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.609A>G (p.Pro203=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359049]|Juvenile polyposis syndrome [RCV001469976]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007117] Chr18:51054935 [GRCh38]
Chr18:48581305 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.630C>T (p.Ser210=) single nucleotide variant Juvenile polyposis syndrome [RCV001403421] Chr18:51054956 [GRCh38]
Chr18:48581326 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1482C>T (p.Asp494=) single nucleotide variant Juvenile polyposis syndrome [RCV001460573] Chr18:51078290 [GRCh38]
Chr18:48604660 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1197C>T (p.Val399=) single nucleotide variant Juvenile polyposis syndrome [RCV001464647] Chr18:51067076 [GRCh38]
Chr18:48593446 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.333T>C (p.His111=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002322434]|Juvenile polyposis syndrome [RCV001419604] Chr18:51048769 [GRCh38]
Chr18:48575139 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1056A>C (p.Gly352=) single nucleotide variant Juvenile polyposis syndrome [RCV001398167] Chr18:51065523 [GRCh38]
Chr18:48591893 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.528A>C (p.Gly176=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002343706]|Hereditary cancer-predisposing syndrome [RCV001524049] Chr18:51054854 [GRCh38]
Chr18:48581224 [GRCh37]
Chr18:18q21.2		 likely benign
NC_000018.9:g.(?_48573411)_(48604842_?)dup duplication Juvenile polyposis syndrome [RCV001404510] Chr18:48573411..48604842 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.738A>G (p.Pro246=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004557684]|Juvenile polyposis syndrome [RCV001466403] Chr18:51058195 [GRCh38]
Chr18:48584565 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1149A>G (p.Ile383Met) single nucleotide variant Juvenile polyposis syndrome [RCV001377145] Chr18:51067028 [GRCh38]
Chr18:48593398 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.620del (p.Asn207fs) deletion Juvenile polyposis syndrome [RCV001386065] Chr18:51054945 [GRCh38]
Chr18:48581315 [GRCh37]
Chr18:18q21.2		 pathogenic
NC_000018.9:g.(?_48573407)_(48573675_?)dup duplication Juvenile polyposis syndrome [RCV001430402] Chr18:48573407..48573675 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.905-8T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003584938]|Juvenile polyposis syndrome [RCV001424226] Chr18:51059858 [GRCh38]
Chr18:48586228 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1308+2T>G single nucleotide variant Juvenile polyposis syndrome [RCV001379228]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004037636] Chr18:51067189 [GRCh38]
Chr18:48593559 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.905-8T>C single nucleotide variant Juvenile polyposis syndrome [RCV001504037]|not provided [RCV001751778] Chr18:51059858 [GRCh38]
Chr18:48586228 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.429C>G (p.Leu143=) single nucleotide variant Juvenile polyposis syndrome [RCV001489037] Chr18:51049299 [GRCh38]
Chr18:48575669 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.510A>T (p.Pro170=) single nucleotide variant Juvenile polyposis syndrome [RCV001438784] Chr18:51054836 [GRCh38]
Chr18:48581206 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1409C>G (p.Pro470Arg) single nucleotide variant Juvenile polyposis syndrome [RCV003094001]|not specified [RCV002248859] Chr18:51076738 [GRCh38]
Chr18:48603108 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.930C>T (p.Phe310=) single nucleotide variant Juvenile polyposis syndrome [RCV003109201] Chr18:51059891 [GRCh38]
Chr18:48586261 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+1G>C single nucleotide variant not provided [RCV002227419] Chr18:51076777 [GRCh38]
Chr18:48603147 [GRCh37]
Chr18:18q21.2		 not provided
NM_005359.6(SMAD4):c.562A>C (p.Asn188His) single nucleotide variant Juvenile polyposis syndrome [RCV002001458] Chr18:51054888 [GRCh38]
Chr18:48581258 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1443T>C (p.Ala481=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259279]|Juvenile polyposis syndrome [RCV003095853] Chr18:51076772 [GRCh38]
Chr18:48603142 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.97G>A (p.Glu33Lys) single nucleotide variant not provided [RCV001764015] Chr18:51047143 [GRCh38]
Chr18:48573513 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1414C>G (p.Pro472Ala) single nucleotide variant Juvenile polyposis syndrome [RCV003761428]|not provided [RCV001774746] Chr18:51076743 [GRCh38]
Chr18:48603113 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1273G>A (p.Ala425Thr) single nucleotide variant not provided [RCV001763709] Chr18:51067152 [GRCh38]
Chr18:48593522 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.533C>T (p.Ser178Leu) single nucleotide variant not provided [RCV001771468] Chr18:51054859 [GRCh38]
Chr18:48581229 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1052A>G (p.Asp351Gly) single nucleotide variant not specified [RCV001801138] Chr18:51065519 [GRCh38]
Chr18:48591889 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+3G>C single nucleotide variant not provided [RCV003238117] Chr18:51054996 [GRCh38]
Chr18:48581366 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-12T>G single nucleotide variant not provided [RCV003238118] Chr18:51048674 [GRCh38]
Chr18:48575044 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1639G>A (p.Asp547Asn) single nucleotide variant not provided [RCV001774605] Chr18:51078447 [GRCh38]
Chr18:48604817 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1105A>G (p.Asn369Asp) single nucleotide variant not provided [RCV001761426] Chr18:51065572 [GRCh38]
Chr18:48591942 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.5:c.-496_*1311dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001799324]   uncertain significance
NM_005359.6(SMAD4):c.692G>T (p.Gly231Val) single nucleotide variant Generalized juvenile polyposis/juvenile polyposis coli [RCV001789836]|Juvenile polyposis syndrome [RCV001885214] Chr18:51058149 [GRCh38]
Chr18:48584519 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1139+388G>A single nucleotide variant not provided [RCV001786925] Chr18:51065994 [GRCh38]
Chr18:48592364 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.605C>T (p.Ala202Val) single nucleotide variant Juvenile polyposis syndrome [RCV003772004]|not provided [RCV001758556] Chr18:51054931 [GRCh38]
Chr18:48581301 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1309-15G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001804322]|Juvenile polyposis syndrome [RCV002074182] Chr18:51076623 [GRCh38]
Chr18:48602993 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668G>A (p.Ser223Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805673] Chr18:51058125 [GRCh38]
Chr18:48584495 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.400G>A (p.Glu134Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370332]|Hereditary cancer-predisposing syndrome [RCV001805389]|Juvenile polyposis syndrome [RCV001869539] Chr18:51048836 [GRCh38]
Chr18:48575206 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.849C>A (p.His283Gln) single nucleotide variant not specified [RCV001820727] Chr18:51058401 [GRCh38]
Chr18:48584771 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1448-5G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002388678]|Hereditary cancer-predisposing syndrome [RCV001805506] Chr18:51078251 [GRCh38]
Chr18:48604621 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.197C>T (p.Ala66Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002422866]|Hereditary cancer-predisposing syndrome [RCV001804526] Chr18:51047243 [GRCh38]
Chr18:48573613 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1415C>T (p.Pro472Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002388677]|Hereditary cancer-predisposing syndrome [RCV001805482]|Juvenile polyposis syndrome [RCV001869547] Chr18:51076744 [GRCh38]
Chr18:48603114 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1627A>T (p.Met543Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002397758]|Hereditary cancer-predisposing syndrome [RCV001805532]|Juvenile polyposis syndrome [RCV003597217] Chr18:51078435 [GRCh38]
Chr18:48604805 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.773C>T (p.Ala258Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558791]|Juvenile polyposis syndrome [RCV001986884] Chr18:51058230 [GRCh38]
Chr18:48584600 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1342C>A (p.Gln448Lys) single nucleotide variant Juvenile polyposis syndrome [RCV002045113] Chr18:51076671 [GRCh38]
Chr18:48603041 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1411G>A (p.Gly471Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001863472] Chr18:51076740 [GRCh38]
Chr18:48603110 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1050T>C (p.Val350=) single nucleotide variant Juvenile polyposis syndrome [RCV001971400] Chr18:51065517 [GRCh38]
Chr18:48591887 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.937C>G (p.Pro313Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370689]|Juvenile polyposis syndrome [RCV002042652] Chr18:51059898 [GRCh38]
Chr18:48586268 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.656T>C (p.Val219Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002361385]|Juvenile polyposis syndrome [RCV002025951] Chr18:51054982 [GRCh38]
Chr18:48581352 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.639C>G (p.Asn213Lys) single nucleotide variant Juvenile polyposis syndrome [RCV001896233] Chr18:51054965 [GRCh38]
Chr18:48581335 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.579G>C (p.Glu193Asp) single nucleotide variant Juvenile polyposis syndrome [RCV001908448] Chr18:51054905 [GRCh38]
Chr18:48581275 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.190A>G (p.Asn64Asp) single nucleotide variant Juvenile polyposis syndrome [RCV001891982] Chr18:51047236 [GRCh38]
Chr18:48573606 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.905-6C>G single nucleotide variant Juvenile polyposis syndrome [RCV001949914] Chr18:51059860 [GRCh38]
Chr18:48586230 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1642C>T (p.Pro548Ser) single nucleotide variant Juvenile polyposis syndrome [RCV002045043] Chr18:51078450 [GRCh38]
Chr18:48604820 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1154A>C (p.Lys385Thr) single nucleotide variant Juvenile polyposis syndrome [RCV002043859] Chr18:51067033 [GRCh38]
Chr18:48593403 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.541A>T (p.Thr181Ser) single nucleotide variant Juvenile polyposis syndrome [RCV002024977] Chr18:51054867 [GRCh38]
Chr18:48581237 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1580T>C (p.Ile527Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001986786] Chr18:51078388 [GRCh38]
Chr18:48604758 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.714dup (p.Gln239fs) duplication Juvenile polyposis syndrome [RCV001908693] Chr18:51058170..51058171 [GRCh38]
Chr18:48584540..48584541 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.894del (p.Gly299fs) deletion Juvenile polyposis syndrome [RCV001825132] Chr18:51058444 [GRCh38]
Chr18:48584814 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.468G>A (p.Met156Ile) single nucleotide variant Juvenile polyposis syndrome [RCV001983561] Chr18:51054794 [GRCh38]
Chr18:48581164 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1507A>G (p.Met503Val) single nucleotide variant not provided [RCV001847469] Chr18:51078315 [GRCh38]
Chr18:48604685 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1030A>G (p.Ser344Gly) single nucleotide variant Juvenile polyposis syndrome [RCV001890873] Chr18:51065497 [GRCh38]
Chr18:48591867 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.787+18A>G single nucleotide variant Juvenile polyposis syndrome [RCV001891763] Chr18:51058262 [GRCh38]
Chr18:48584632 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.557C>G (p.Pro186Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002043514] Chr18:51054883 [GRCh38]
Chr18:48581253 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+6C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558696]|Juvenile polyposis syndrome [RCV001895032] Chr18:51058462 [GRCh38]
Chr18:48584832 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.296G>A (p.Trp99Ter) single nucleotide variant Juvenile polyposis syndrome [RCV001969919] Chr18:51048732 [GRCh38]
Chr18:48575102 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1523del (p.Gly508fs) deletion Juvenile polyposis syndrome [RCV001872983]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003464193] Chr18:51078330 [GRCh38]
Chr18:48604700 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.691G>A (p.Gly231Ser) single nucleotide variant Juvenile polyposis syndrome [RCV001908539] Chr18:51058148 [GRCh38]
Chr18:48584518 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.737C>T (p.Pro246Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002386643]|Juvenile polyposis syndrome [RCV001889874] Chr18:51058194 [GRCh38]
Chr18:48584564 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.104T>A (p.Phe35Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV001914129] Chr18:51047150 [GRCh38]
Chr18:48573520 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.112del (p.Arg38fs) deletion Juvenile polyposis syndrome [RCV001910798] Chr18:51047154 [GRCh38]
Chr18:48573524 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.472del (p.Met157_Val158insTer) deletion Juvenile polyposis syndrome [RCV001946287] Chr18:51054797 [GRCh38]
Chr18:48581167 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.404G>T (p.Arg135Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001892167] Chr18:51048840 [GRCh38]
Chr18:48575210 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1612G>A (p.Glu538Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002397841]|Juvenile polyposis syndrome [RCV001871453] Chr18:51078420 [GRCh38]
Chr18:48604790 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1034G>C (p.Cys345Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003170372]|Juvenile polyposis syndrome [RCV002005644] Chr18:51065501 [GRCh38]
Chr18:48591871 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+16_904+17insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGCTGTTTTGGTTACTGTAGCCTTGTATGATAGTTTGAAGTCAGGTTGTGTGATTCCTCCAGCTTTGTTCTTTTGGAGTAAGCTCTTGTTTTT insertion Juvenile polyposis syndrome [RCV001870817] Chr18:51058456..51058457 [GRCh38]
Chr18:48584826..48584827 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1186G>A (p.Asp396Asn) single nucleotide variant Juvenile polyposis syndrome [RCV001872297] Chr18:51067065 [GRCh38]
Chr18:48593435 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_005359.6(SMAD4):c.530A>G (p.His177Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001908468]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003471001] Chr18:51054856 [GRCh38]
Chr18:48581226 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1253C>T (p.Ala418Val) single nucleotide variant Juvenile polyposis syndrome [RCV002039400] Chr18:51067132 [GRCh38]
Chr18:48593502 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1658G>C (p.Ter553Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558768]|Juvenile polyposis syndrome [RCV001966373] Chr18:51078466 [GRCh38]
Chr18:48604836 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_005359.6(SMAD4):c.737del (p.Pro246fs) deletion Juvenile polyposis syndrome [RCV001938801] Chr18:51058193 [GRCh38]
Chr18:48584563 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.742C>T (p.Gln248Ter) single nucleotide variant Juvenile polyposis syndrome [RCV001940629] Chr18:51058199 [GRCh38]
Chr18:48584569 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.815G>A (p.Arg272Lys) single nucleotide variant Juvenile polyposis syndrome [RCV001982278]|not provided [RCV003238881] Chr18:51058367 [GRCh38]
Chr18:48584737 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.375T>G (p.Ser125Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001974031] Chr18:51048811 [GRCh38]
Chr18:48575181 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1643C>G (p.Pro548Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001944398] Chr18:51078451 [GRCh38]
Chr18:48604821 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+1G>T single nucleotide variant Juvenile polyposis syndrome [RCV002017822]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004046640] Chr18:51047296 [GRCh38]
Chr18:48573666 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.82C>A (p.Gln28Lys) single nucleotide variant Juvenile polyposis syndrome [RCV002033178] Chr18:51047128 [GRCh38]
Chr18:48573498 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.772G>T (p.Ala258Ser) single nucleotide variant Juvenile polyposis syndrome [RCV002048710] Chr18:51058229 [GRCh38]
Chr18:48584599 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.695G>A (p.Ser232Asn) single nucleotide variant Juvenile polyposis syndrome [RCV001962651] Chr18:51058152 [GRCh38]
Chr18:48584522 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1647A>C (p.Gln549His) single nucleotide variant Juvenile polyposis syndrome [RCV002000605] Chr18:51078455 [GRCh38]
Chr18:48604825 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1415dup (p.Gly473fs) duplication Juvenile polyposis syndrome [RCV001941599] Chr18:51076741..51076742 [GRCh38]
Chr18:48603111..48603112 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.287C>T (p.Ala96Val) single nucleotide variant Juvenile polyposis syndrome [RCV002001428] Chr18:51048723 [GRCh38]
Chr18:48575093 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.837T>G (p.Asn279Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002441114]|Juvenile polyposis syndrome [RCV001956763] Chr18:51058389 [GRCh38]
Chr18:48584759 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1285A>G (p.Ile429Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558683]|Juvenile polyposis syndrome [RCV001905141] Chr18:51067164 [GRCh38]
Chr18:48593534 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.905-1G>T single nucleotide variant Juvenile polyposis syndrome [RCV002037544] Chr18:51059865 [GRCh38]
Chr18:48586235 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.205A>G (p.Ser69Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002423152]|Juvenile polyposis syndrome [RCV001994970] Chr18:51047251 [GRCh38]
Chr18:48573621 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1189G>A (p.Val397Ile) single nucleotide variant Juvenile polyposis syndrome [RCV001936403]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010920] Chr18:51067068 [GRCh38]
Chr18:48593438 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.454+3A>G single nucleotide variant Juvenile polyposis syndrome [RCV002038009] Chr18:51049327 [GRCh38]
Chr18:48575697 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1579A>G (p.Ile527Val) single nucleotide variant Juvenile polyposis syndrome [RCV001934897] Chr18:51078387 [GRCh38]
Chr18:48604757 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.47G>T (p.Cys16Phe) single nucleotide variant Juvenile polyposis syndrome [RCV001867171] Chr18:51047093 [GRCh38]
Chr18:48573463 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.35G>A (p.Ser12Asn) single nucleotide variant Juvenile polyposis syndrome [RCV001899152] Chr18:51047081 [GRCh38]
Chr18:48573451 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-5_3del (p.Met1fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV004558778]|Juvenile polyposis syndrome [RCV001974029]|not specified [RCV002465912] Chr18:51047040..51047047 [GRCh38]
Chr18:48573410..48573417 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.946A>G (p.Asn316Asp) single nucleotide variant Juvenile polyposis syndrome [RCV001900557] Chr18:51059907 [GRCh38]
Chr18:48586277 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.237_241dup (p.Arg81fs) duplication Juvenile polyposis syndrome [RCV001882303] Chr18:51047279..51047280 [GRCh38]
Chr18:48573649..48573650 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1013C>G (p.Thr338Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002010658] Chr18:51065480 [GRCh38]
Chr18:48591850 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668-4C>G single nucleotide variant Juvenile polyposis syndrome [RCV001953313] Chr18:51058121 [GRCh38]
Chr18:48584491 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.76C>T (p.His26Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV001867537] Chr18:51047122 [GRCh38]
Chr18:48573492 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.520A>G (p.Thr174Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002334783]|Juvenile polyposis syndrome [RCV001877845] Chr18:51054846 [GRCh38]
Chr18:48581216 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.902dup (p.Tyr301Ter) duplication Juvenile polyposis syndrome [RCV001953721] Chr18:51058453..51058454 [GRCh38]
Chr18:48584823..48584824 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.787+4T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002406995]|Hereditary cancer-predisposing syndrome [RCV002258322]|Juvenile polyposis syndrome [RCV001902820] Chr18:51058248 [GRCh38]
Chr18:48584618 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.341A>G (p.Tyr114Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002458976]|Juvenile polyposis syndrome [RCV002028875] Chr18:51048777 [GRCh38]
Chr18:48575147 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.348_349del (p.Tyr117fs) deletion Juvenile polyposis syndrome [RCV001901203] Chr18:51048784..51048785 [GRCh38]
Chr18:48575154..48575155 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.131T>C (p.Val44Ala) single nucleotide variant Juvenile polyposis syndrome [RCV001866846] Chr18:51047177 [GRCh38]
Chr18:48573547 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(?_48603002)_(48604843_?)dup duplication Juvenile polyposis syndrome [RCV001918813] Chr18:48603002..48604843 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1552A>G (p.Ile518Val) single nucleotide variant Juvenile polyposis syndrome [RCV001875619] Chr18:51078360 [GRCh38]
Chr18:48604730 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1548del (p.Ser517fs) deletion Juvenile polyposis syndrome [RCV001994848] Chr18:51078356 [GRCh38]
Chr18:48604726 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1432A>G (p.Ile478Val) single nucleotide variant Juvenile polyposis syndrome [RCV001976225] Chr18:51076761 [GRCh38]
Chr18:48603131 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.925G>C (p.Ala309Pro) single nucleotide variant Juvenile polyposis syndrome [RCV002033322] Chr18:51059886 [GRCh38]
Chr18:48586256 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.832C>A (p.Pro278Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003170189]|Juvenile polyposis syndrome [RCV001953992] Chr18:51058384 [GRCh38]
Chr18:48584754 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.23del (p.Asn8fs) deletion Juvenile polyposis syndrome [RCV002049264] Chr18:51047068 [GRCh38]
Chr18:48573438 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1339A>T (p.Met447Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001954249] Chr18:51076668 [GRCh38]
Chr18:48603038 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.622G>A (p.Ala208Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558793]|Juvenile polyposis syndrome [RCV002015184] Chr18:51054948 [GRCh38]
Chr18:48581318 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1087T>G (p.Cys363Gly) single nucleotide variant Juvenile polyposis syndrome [RCV002012941]|SMAD4-related disorder [RCV003402038] Chr18:51065554 [GRCh38]
Chr18:48591924 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1002G>C (p.Gln334His) single nucleotide variant Juvenile polyposis syndrome [RCV002011648] Chr18:51065469 [GRCh38]
Chr18:48591839 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1285A>C (p.Ile429Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001996452] Chr18:51067164 [GRCh38]
Chr18:48593534 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.673C>T (p.Pro225Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002361373]|Juvenile polyposis syndrome [RCV001999454]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004571940] Chr18:51058130 [GRCh38]
Chr18:48584500 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.409G>C (p.Val137Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001903831] Chr18:51048845 [GRCh38]
Chr18:48575215 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.25A>G (p.Thr9Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002425375]|Juvenile polyposis syndrome [RCV001995772] Chr18:51047071 [GRCh38]
Chr18:48573441 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.892C>A (p.Pro298Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001881475] Chr18:51058444 [GRCh38]
Chr18:48584814 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.637A>C (p.Asn213His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002352703]|Juvenile polyposis syndrome [RCV001998939] Chr18:51054963 [GRCh38]
Chr18:48581333 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(?_48556583)_(48556993_?)dup duplication Juvenile polyposis syndrome [RCV001992820] Chr18:48556583..48556993 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.491A>T (p.His164Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558663]|Juvenile polyposis syndrome [RCV002029972] Chr18:51054817 [GRCh38]
Chr18:48581187 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1385C>T (p.Ala462Val) single nucleotide variant Juvenile polyposis syndrome [RCV001884014] Chr18:51076714 [GRCh38]
Chr18:48603084 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(?_48591783)_(48591986_?)del deletion Juvenile polyposis syndrome [RCV001950962] Chr18:48591783..48591986 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1172G>A (p.Cys391Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV001961192] Chr18:51067051 [GRCh38]
Chr18:48593421 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.143A>G (p.Lys48Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002388972]|Juvenile polyposis syndrome [RCV001978147] Chr18:51047189 [GRCh38]
Chr18:48573559 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.516G>T (p.Leu172Phe) single nucleotide variant Juvenile polyposis syndrome [RCV001978190] Chr18:51054842 [GRCh38]
Chr18:48581212 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(?_46570425)_(48604837_?)dup duplication not provided [RCV001923066] Chr18:46570425..48604837 [GRCh37]
Chr18:18q21.1-21.2		 uncertain significance
NM_005359.6(SMAD4):c.470T>A (p.Met157Lys) single nucleotide variant Juvenile polyposis syndrome [RCV001875548] Chr18:51054796 [GRCh38]
Chr18:48581166 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.821C>T (p.Ala274Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002407262]|Juvenile polyposis syndrome [RCV002019214]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003475278]|not provided [RCV003159226] Chr18:51058373 [GRCh38]
Chr18:48584743 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(?_48602998)_(48604837_?)del deletion Juvenile polyposis syndrome [RCV001958986] Chr18:48602998..48604837 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1396G>A (p.Ala466Thr) single nucleotide variant Juvenile polyposis syndrome [RCV001885592] Chr18:51076725 [GRCh38]
Chr18:48603095 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.676G>C (p.Ala226Pro) single nucleotide variant Juvenile polyposis syndrome [RCV001883756] Chr18:51058133 [GRCh38]
Chr18:48584503 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1125_1128dup (p.Glu377delinsHisTer) duplication Juvenile polyposis syndrome [RCV001934724] Chr18:51065591..51065592 [GRCh38]
Chr18:48591961..48591962 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1017dup (p.Lys340Ter) duplication Juvenile polyposis syndrome [RCV001980186] Chr18:51065481..51065482 [GRCh38]
Chr18:48591851..48591852 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1587A>C (p.Leu529Phe) single nucleotide variant Juvenile polyposis syndrome [RCV001939706] Chr18:51078395 [GRCh38]
Chr18:48604765 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1646A>G (p.Gln549Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001998257] Chr18:51078454 [GRCh38]
Chr18:48604824 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1373dup (p.Ala459fs) duplication Juvenile polyposis syndrome [RCV001940281] Chr18:51076701..51076702 [GRCh38]
Chr18:48603071..48603072 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.728G>C (p.Gly243Ala) single nucleotide variant Juvenile polyposis syndrome [RCV002035598] Chr18:51058185 [GRCh38]
Chr18:48584555 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.713_719del (p.Leu237_Leu238insTer) deletion Juvenile polyposis syndrome [RCV001886185] Chr18:51058169..51058175 [GRCh38]
Chr18:48584539..48584545 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.668-15T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585168]|Juvenile polyposis syndrome [RCV001939600] Chr18:51058110 [GRCh38]
Chr18:48584480 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.688G>A (p.Gly230Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001931262] Chr18:51058145 [GRCh38]
Chr18:48584515 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1355C>T (p.Ala452Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002386889]|Juvenile polyposis syndrome [RCV002047846] Chr18:51076684 [GRCh38]
Chr18:48603054 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.332_333del (p.His111fs) deletion Juvenile polyposis syndrome [RCV001939853] Chr18:51048768..51048769 [GRCh38]
Chr18:48575138..48575139 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1507A>T (p.Met503Leu) single nucleotide variant Juvenile polyposis syndrome [RCV002028865] Chr18:51078315 [GRCh38]
Chr18:48604685 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1176dup (p.Gly393fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV004558764]|Juvenile polyposis syndrome [RCV001956348] Chr18:51067052..51067053 [GRCh38]
Chr18:48593422..48593423 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1036C>G (p.Pro346Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002388830]|Juvenile polyposis syndrome [RCV001933160] Chr18:51065503 [GRCh38]
Chr18:48591873 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.542C>G (p.Thr181Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002343986]|Juvenile polyposis syndrome [RCV001917664]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004571569] Chr18:51054868 [GRCh38]
Chr18:48581238 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.895G>A (p.Gly299Arg) single nucleotide variant Juvenile polyposis syndrome [RCV001989205]|not specified [RCV002268595] Chr18:51058447 [GRCh38]
Chr18:48584817 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.908C>A (p.Pro303His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370616]|Juvenile polyposis syndrome [RCV001953947]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010990]|Myhre syndrome [RCV002507710] Chr18:51059869 [GRCh38]
Chr18:48586239 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1025C>T (p.Pro342Leu) single nucleotide variant Juvenile polyposis syndrome [RCV001918645] Chr18:51065492 [GRCh38]
Chr18:48591862 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.225G>A (p.Gln75=) single nucleotide variant Juvenile polyposis syndrome [RCV002210192] Chr18:51047271 [GRCh38]
Chr18:48573641 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.522T>A (p.Thr174=) single nucleotide variant Juvenile polyposis syndrome [RCV002076092] Chr18:51054848 [GRCh38]
Chr18:48581218 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.905-16G>A single nucleotide variant Juvenile polyposis syndrome [RCV002085285] Chr18:51059850 [GRCh38]
Chr18:48586220 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+9C>T single nucleotide variant Juvenile polyposis syndrome [RCV002186479] Chr18:51067196 [GRCh38]
Chr18:48593566 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+9G>T single nucleotide variant Juvenile polyposis syndrome [RCV002209360] Chr18:51076785 [GRCh38]
Chr18:48603155 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.425-12T>G single nucleotide variant Juvenile polyposis syndrome [RCV002124533] Chr18:51049283 [GRCh38]
Chr18:48575653 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+20T>C single nucleotide variant Juvenile polyposis syndrome [RCV002091265] Chr18:51076796 [GRCh38]
Chr18:48603166 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.429C>T (p.Leu143=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585231]|Juvenile polyposis syndrome [RCV002186563] Chr18:51049299 [GRCh38]
Chr18:48575669 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.955+19T>G single nucleotide variant Juvenile polyposis syndrome [RCV002205196] Chr18:51059935 [GRCh38]
Chr18:48586305 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.956-4A>C single nucleotide variant Juvenile polyposis syndrome [RCV002205153] Chr18:51065419 [GRCh38]
Chr18:48591789 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.348G>A (p.Gln116=) single nucleotide variant Juvenile polyposis syndrome [RCV002071254] Chr18:51048784 [GRCh38]
Chr18:48575154 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.425-17C>G single nucleotide variant Juvenile polyposis syndrome [RCV002208064] Chr18:51049278 [GRCh38]
Chr18:48575648 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140-15T>A single nucleotide variant Juvenile polyposis syndrome [RCV002187123] Chr18:51067004 [GRCh38]
Chr18:48593374 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+7T>C single nucleotide variant Juvenile polyposis syndrome [RCV002075177] Chr18:51058463 [GRCh38]
Chr18:48584833 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.425-77A>G single nucleotide variant not provided [RCV002223396] Chr18:51049218 [GRCh38]
Chr18:48575588 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.425-16C>G single nucleotide variant Juvenile polyposis syndrome [RCV002147715] Chr18:51049279 [GRCh38]
Chr18:48575649 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140-5C>T single nucleotide variant Juvenile polyposis syndrome [RCV002192320] Chr18:51067014 [GRCh38]
Chr18:48593384 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.24T>C (p.Asn8=) single nucleotide variant Juvenile polyposis syndrome [RCV002170033] Chr18:51047070 [GRCh38]
Chr18:48573440 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.69G>A (p.Leu23=) single nucleotide variant Juvenile polyposis syndrome [RCV002194940] Chr18:51047115 [GRCh38]
Chr18:48573485 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1410T>C (p.Pro470=) single nucleotide variant Juvenile polyposis syndrome [RCV002196715] Chr18:51076739 [GRCh38]
Chr18:48603109 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.849C>T (p.His283=) single nucleotide variant Juvenile polyposis syndrome [RCV002094061] Chr18:51058401 [GRCh38]
Chr18:48584771 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.18T>C (p.Ile6=) single nucleotide variant Juvenile polyposis syndrome [RCV002134969] Chr18:51047064 [GRCh38]
Chr18:48573434 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.591C>T (p.Thr197=) single nucleotide variant Juvenile polyposis syndrome [RCV002171284]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004005419] Chr18:51054917 [GRCh38]
Chr18:48581287 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.905-5T>C single nucleotide variant Juvenile polyposis syndrome [RCV002190282] Chr18:51059861 [GRCh38]
Chr18:48586231 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+13A>G single nucleotide variant Juvenile polyposis syndrome [RCV002091975] Chr18:51055006 [GRCh38]
Chr18:48581376 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-15T>C single nucleotide variant Juvenile polyposis syndrome [RCV002211729] Chr18:51054766 [GRCh38]
Chr18:48581136 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.249+11_249+12del microsatellite Juvenile polyposis syndrome [RCV002132979] Chr18:51047304..51047305 [GRCh38]
Chr18:48573674..48573675 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1503C>T (p.Leu501=) single nucleotide variant Juvenile polyposis syndrome [RCV002093834] Chr18:51078311 [GRCh38]
Chr18:48604681 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.675T>G (p.Pro225=) single nucleotide variant Juvenile polyposis syndrome [RCV002094072] Chr18:51058132 [GRCh38]
Chr18:48584502 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.249+7C>G single nucleotide variant Juvenile polyposis syndrome [RCV002078169] Chr18:51047302 [GRCh38]
Chr18:48573672 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1080T>C (p.Asp360=) single nucleotide variant Juvenile polyposis syndrome [RCV002079045] Chr18:51065547 [GRCh38]
Chr18:48591917 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.714G>A (p.Leu238=) single nucleotide variant Juvenile polyposis syndrome [RCV002152813] Chr18:51058171 [GRCh38]
Chr18:48584541 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1113C>T (p.His371=) single nucleotide variant Juvenile polyposis syndrome [RCV002209224] Chr18:51065580 [GRCh38]
Chr18:48591950 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+19T>G single nucleotide variant Juvenile polyposis syndrome [RCV002110782] Chr18:51067206 [GRCh38]
Chr18:48593576 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.888C>T (p.Pro296=) single nucleotide variant Juvenile polyposis syndrome [RCV002149996] Chr18:51058440 [GRCh38]
Chr18:48584810 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-18C>A single nucleotide variant Juvenile polyposis syndrome [RCV002215161] Chr18:51078238 [GRCh38]
Chr18:48604608 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-11T>G single nucleotide variant Juvenile polyposis syndrome [RCV002166118] Chr18:51078245 [GRCh38]
Chr18:48604615 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-16T>C single nucleotide variant Juvenile polyposis syndrome [RCV002091818] Chr18:51054765 [GRCh38]
Chr18:48581135 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1185T>G (p.Gly395=) single nucleotide variant Juvenile polyposis syndrome [RCV002096858] Chr18:51067064 [GRCh38]
Chr18:48593434 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.513G>A (p.Ser171=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002346533]|Juvenile polyposis syndrome [RCV002171447] Chr18:51054839 [GRCh38]
Chr18:48581209 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-16A>G single nucleotide variant Juvenile polyposis syndrome [RCV002134857] Chr18:51078240 [GRCh38]
Chr18:48604610 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.555A>C (p.Pro185=) single nucleotide variant Juvenile polyposis syndrome [RCV002077978] Chr18:51054881 [GRCh38]
Chr18:48581251 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1139+18A>C single nucleotide variant Juvenile polyposis syndrome [RCV002153987] Chr18:51065624 [GRCh38]
Chr18:48591994 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.787+20A>C single nucleotide variant Juvenile polyposis syndrome [RCV002139059] Chr18:51058264 [GRCh38]
Chr18:48584634 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.45C>G (p.Ala15=) single nucleotide variant Juvenile polyposis syndrome [RCV002175441] Chr18:51047091 [GRCh38]
Chr18:48573461 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+7A>T single nucleotide variant Juvenile polyposis syndrome [RCV002141275] Chr18:51076783 [GRCh38]
Chr18:48603153 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.787+16A>T single nucleotide variant Juvenile polyposis syndrome [RCV002118933] Chr18:51058260 [GRCh38]
Chr18:48584630 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1218G>T (p.Ala406=) single nucleotide variant Juvenile polyposis syndrome [RCV002199195] Chr18:51067097 [GRCh38]
Chr18:48593467 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.981T>C (p.Ala327=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558891]|Juvenile polyposis syndrome [RCV002154366] Chr18:51065448 [GRCh38]
Chr18:48591818 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1221C>G (p.Val407=) single nucleotide variant Juvenile polyposis syndrome [RCV002216882] Chr18:51067100 [GRCh38]
Chr18:48593470 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.492T>C (p.His164=) single nucleotide variant Juvenile polyposis syndrome [RCV002179492] Chr18:51054818 [GRCh38]
Chr18:48581188 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.424+16T>G single nucleotide variant Juvenile polyposis syndrome [RCV002143431] Chr18:51048876 [GRCh38]
Chr18:48575246 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.424+13T>C single nucleotide variant Juvenile polyposis syndrome [RCV002143499] Chr18:51048873 [GRCh38]
Chr18:48575243 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.279G>A (p.Val93=) single nucleotide variant Juvenile polyposis syndrome [RCV002155640] Chr18:51048715 [GRCh38]
Chr18:48575085 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1272T>C (p.Asp424=) single nucleotide variant Juvenile polyposis syndrome [RCV002137682] Chr18:51067151 [GRCh38]
Chr18:48593521 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-10G>A single nucleotide variant Juvenile polyposis syndrome [RCV002123659] Chr18:51058115 [GRCh38]
Chr18:48584485 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+20G>A single nucleotide variant Juvenile polyposis syndrome [RCV002118721] Chr18:51055013 [GRCh38]
Chr18:48581383 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.249+13_249+14insAT insertion Juvenile polyposis syndrome [RCV002158729]|not specified [RCV003388100] Chr18:51047308..51047309 [GRCh38]
Chr18:48573678..48573679 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.711G>T (p.Leu237=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002361441]|Juvenile polyposis syndrome [RCV002177802]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004011221] Chr18:51058168 [GRCh38]
Chr18:48584538 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.955+18T>C single nucleotide variant Juvenile polyposis syndrome [RCV002154379] Chr18:51059934 [GRCh38]
Chr18:48586304 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1209T>C (p.Ser403=) single nucleotide variant Juvenile polyposis syndrome [RCV002141082] Chr18:51067088 [GRCh38]
Chr18:48593458 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+7T>G single nucleotide variant Juvenile polyposis syndrome [RCV002204226] Chr18:51055000 [GRCh38]
Chr18:48581370 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.30A>T (p.Pro10=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002325696]|Juvenile polyposis syndrome [RCV002184194] Chr18:51047076 [GRCh38]
Chr18:48573446 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.955+14A>C single nucleotide variant Juvenile polyposis syndrome [RCV002219565] Chr18:51059930 [GRCh38]
Chr18:48586300 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1350G>A (p.Gln450=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003161602]|Juvenile polyposis syndrome [RCV002124178] Chr18:51076679 [GRCh38]
Chr18:48603049 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.414A>T (p.Ser138=) single nucleotide variant Juvenile polyposis syndrome [RCV002144311] Chr18:51048850 [GRCh38]
Chr18:48575220 [GRCh37]
Chr18:18q21.2		 likely benign
NC_000018.9:g.(?_48602988)_(48604837_?)del deletion Juvenile polyposis syndrome [RCV003116354] Chr18:48602988..48604837 [GRCh37]
Chr18:18q21.2		 pathogenic
NC_000018.9:g.(?_48591783)_(48593567_?)del deletion Juvenile polyposis syndrome [RCV003116355] Chr18:48591783..48593567 [GRCh37]
Chr18:18q21.2		 pathogenic
NC_000018.9:g.(?_48604616)_(48604837_?)dup duplication Juvenile polyposis syndrome [RCV003116356] Chr18:48604616..48604837 [GRCh37]
Chr18:18q21.2		 likely benign
NC_000018.9:g.(?_48573397)_(48573685_?)dup duplication Juvenile polyposis syndrome [RCV003116357] Chr18:48573397..48573685 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.353C>T (p.Ala118Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558907]|Juvenile polyposis syndrome [RCV003094187]|not provided [RCV002255744] Chr18:51048789 [GRCh38]
Chr18:48575159 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-128+6_-128+7insCTTGCAACGTTA insertion Hereditary cancer-predisposing syndrome [RCV002258706] Chr18:51030629..51030630 [GRCh38]
Chr18:48556999..48557000 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-128+7G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258707] Chr18:51030630 [GRCh38]
Chr18:48557000 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.202C>A (p.Pro68Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258708] Chr18:51047248 [GRCh38]
Chr18:48573618 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.998T>C (p.Val333Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258710] Chr18:51065465 [GRCh38]
Chr18:48591835 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.662C>T (p.Ser221Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002366736]|Juvenile polyposis syndrome [RCV003120947] Chr18:51054988 [GRCh38]
Chr18:48581358 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.878C>G (p.Pro293Arg) single nucleotide variant not provided [RCV002267533] Chr18:51058430 [GRCh38]
Chr18:48584800 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.905-3T>G single nucleotide variant Juvenile polyposis syndrome [RCV002290214] Chr18:51059863 [GRCh38]
Chr18:48586233 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*3760dup duplication not provided [RCV002263123] Chr18:51082218..51082219 [GRCh38]
Chr18:48608588..48608589 [GRCh37]
Chr18:18q21.2		 benign|likely benign
NM_005359.6(SMAD4):c.904+43_904+45dup duplication not specified [RCV002268942] Chr18:51058485..51058486 [GRCh38]
Chr18:48584855..48584856 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.904+44_904+45del deletion not specified [RCV002268943] Chr18:51058486..51058487 [GRCh38]
Chr18:48584856..48584857 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-49G>C single nucleotide variant not specified [RCV002269129] Chr18:51078207 [GRCh38]
Chr18:48604577 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1140-3A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002452010]|Juvenile polyposis syndrome [RCV003102363] Chr18:51067016 [GRCh38]
Chr18:48593386 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.369del (p.Cys123fs) deletion Juvenile polyposis syndrome [RCV002288371] Chr18:51048805 [GRCh38]
Chr18:48575175 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.788-31C>T single nucleotide variant not specified [RCV002268941] Chr18:51058309 [GRCh38]
Chr18:48584679 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+49A>T single nucleotide variant not specified [RCV002268944] Chr18:51058505 [GRCh38]
Chr18:48584875 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1309-48G>A single nucleotide variant not specified [RCV002269116] Chr18:51076590 [GRCh38]
Chr18:48602960 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.812G>T (p.Ser271Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002421331] Chr18:51058364 [GRCh38]
Chr18:48584734 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-3A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002452004] Chr18:51067016 [GRCh38]
Chr18:48593386 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1325A>T (p.Gln442Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002385769] Chr18:51076654 [GRCh38]
Chr18:48603024 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.798C>A (p.Thr266=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002419069]|Juvenile polyposis syndrome [RCV003597432] Chr18:51058350 [GRCh38]
Chr18:48584720 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.378C>A (p.Val126=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002351199] Chr18:51048814 [GRCh38]
Chr18:48575184 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1335A>G (p.Arg445=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002387570]|Juvenile polyposis syndrome [RCV003597436] Chr18:51076664 [GRCh38]
Chr18:48603034 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+38G>C single nucleotide variant not specified [RCV002268940] Chr18:51049362 [GRCh38]
Chr18:48575732 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.956-17C>T single nucleotide variant Juvenile polyposis syndrome [RCV003096087]|not specified [RCV002269104] Chr18:51065406 [GRCh38]
Chr18:48591776 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.624T>C (p.Ala208=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002366678] Chr18:51054950 [GRCh38]
Chr18:48581320 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.357T>C (p.Phe119=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002455082] Chr18:51048793 [GRCh38]
Chr18:48575163 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.28C>T (p.Pro10Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002438047] Chr18:51047074 [GRCh38]
Chr18:48573444 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.954T>G (p.Pro318=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002385183] Chr18:51059915 [GRCh38]
Chr18:48586285 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.553C>A (p.Pro185Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002351872]|Juvenile polyposis syndrome [RCV003096784] Chr18:51054879 [GRCh38]
Chr18:48581249 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.457C>G (p.Pro153Ala) single nucleotide variant not specified [RCV002266413] Chr18:51054783 [GRCh38]
Chr18:48581153 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1243G>A (p.Asp415Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002385083] Chr18:51067122 [GRCh38]
Chr18:48593492 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.635C>G (p.Ala212Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002369015] Chr18:51054961 [GRCh38]
Chr18:48581331 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1330C>G (p.His444Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002387483] Chr18:51076659 [GRCh38]
Chr18:48603029 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.670C>G (p.Gln224Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367195] Chr18:51058127 [GRCh38]
Chr18:48584497 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1019dup (p.Val341fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002369126] Chr18:51065484..51065485 [GRCh38]
Chr18:48591854..48591855 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.956-11_956-1del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002385200] Chr18:51065412..51065422 [GRCh38]
Chr18:48591782..48591792 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.337A>G (p.Lys113Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002451807] Chr18:51048773 [GRCh38]
Chr18:48575143 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.674C>A (p.Pro225His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002369215] Chr18:51058131 [GRCh38]
Chr18:48584501 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002349088]|Myhre syndrome [RCV003314038] Chr18:51048806..51048807 [GRCh38]
Chr18:48575176..48575177 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.623C>G (p.Ala208Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002366606] Chr18:51054949 [GRCh38]
Chr18:48581319 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.637A>G (p.Asn213Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002369112] Chr18:51054963 [GRCh38]
Chr18:48581333 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.709C>G (p.Leu237Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367319] Chr18:51058166 [GRCh38]
Chr18:48584536 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1221C>T (p.Val407=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002369138] Chr18:51067100 [GRCh38]
Chr18:48593470 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.203C>G (p.Pro68Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002419896] Chr18:51047249 [GRCh38]
Chr18:48573619 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.286G>T (p.Ala96Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002437670] Chr18:51048722 [GRCh38]
Chr18:48575092 [GRCh37]
Chr18:18q21.2		 uncertain significance
GRCh37/hg19 18q21.2(chr18:48273185-51134173)x3 copy number gain not provided [RCV002473750] Chr18:48273185..51134173 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.454+23C>T single nucleotide variant not specified [RCV002466209] Chr18:51049347 [GRCh38]
Chr18:48575717 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.559A>C (p.Ser187Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002344852]|Juvenile polyposis syndrome [RCV003096803] Chr18:51054885 [GRCh38]
Chr18:48581255 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.564T>A (p.Asn188Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002345193] Chr18:51054890 [GRCh38]
Chr18:48581260 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.312T>C (p.Leu104=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002320584] Chr18:51048748 [GRCh38]
Chr18:48575118 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1139+1_1139+4dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002320955]|Hereditary cancer-predisposing syndrome [RCV003585251]|Juvenile polyposis syndrome [RCV003763108] Chr18:51065606..51065607 [GRCh38]
Chr18:48591976..48591977 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.851A>C (p.Gln284Pro) single nucleotide variant Juvenile polyposis syndrome [RCV002304097] Chr18:51058403 [GRCh38]
Chr18:48584773 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1343A>G (p.Gln448Arg) single nucleotide variant Juvenile polyposis syndrome [RCV002304143] Chr18:51076672 [GRCh38]
Chr18:48603042 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1407C>T (p.Ile469=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002389398] Chr18:51076736 [GRCh38]
Chr18:48603106 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002382528]|Juvenile polyposis syndrome [RCV003763140] Chr18:51058182 [GRCh38]
Chr18:48584552 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1289dup (p.Tyr430Ter) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002383255] Chr18:51067167..51067168 [GRCh38]
Chr18:48593537..48593538 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.748C>G (p.Gln250Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002391549] Chr18:51058205 [GRCh38]
Chr18:48584575 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1634T>C (p.Ile545Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002401350]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007344] Chr18:51078442 [GRCh38]
Chr18:48604812 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1363C>G (p.Gln455Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002383542] Chr18:51076692 [GRCh38]
Chr18:48603062 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.572C>G (p.Ser191Trp) single nucleotide variant Juvenile polyposis syndrome [RCV002305243] Chr18:51054898 [GRCh38]
Chr18:48581268 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1645C>A (p.Gln549Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002394963] Chr18:51078453 [GRCh38]
Chr18:48604823 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.240G>A (p.Gly80=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002450322] Chr18:51047286 [GRCh38]
Chr18:48573656 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.643C>A (p.Pro215Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002361768] Chr18:51054969 [GRCh38]
Chr18:48581339 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1530A>T (p.Gly510=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002402958] Chr18:51078338 [GRCh38]
Chr18:48604708 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1569C>A (p.Cys523Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002405587] Chr18:51078377 [GRCh38]
Chr18:48604747 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.222A>G (p.Ile74Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002428209] Chr18:51047268 [GRCh38]
Chr18:48573638 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.447G>A (p.Gln149=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002328549] Chr18:51049317 [GRCh38]
Chr18:48575687 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1327T>G (p.Cys443Gly) single nucleotide variant Juvenile polyposis syndrome [RCV002297937] Chr18:51076656 [GRCh38]
Chr18:48603026 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1507_1508insATCC (p.Met503fs) insertion Familial thoracic aortic aneurysm and aortic dissection [RCV002390017] Chr18:51078315..51078316 [GRCh38]
Chr18:48604685..48604686 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1548G>A (p.Gln516=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002403300] Chr18:51078356 [GRCh38]
Chr18:48604726 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1004T>G (p.Val335Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002407588] Chr18:51065471 [GRCh38]
Chr18:48591841 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1410_1413dup (p.Pro472fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002389483] Chr18:51076737..51076738 [GRCh38]
Chr18:48603107..48603108 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.660T>A (p.Ala220=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002375866] Chr18:51054986 [GRCh38]
Chr18:48581356 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.581C>T (p.Thr194Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353149] Chr18:51054907 [GRCh38]
Chr18:48581277 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1031G>A (p.Ser344Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002381193] Chr18:51065498 [GRCh38]
Chr18:48591868 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.857G>A (p.Gly286Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002447900] Chr18:51058409 [GRCh38]
Chr18:48584779 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-5T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002431140] Chr18:51048681 [GRCh38]
Chr18:48575051 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+5_1308+11del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002380993]|Juvenile polyposis syndrome [RCV003763146] Chr18:51067191..51067197 [GRCh38]
Chr18:48593561..48593567 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.210A>G (p.Lys70=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002424357]|Juvenile polyposis syndrome [RCV003775101] Chr18:51047256 [GRCh38]
Chr18:48573626 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1622A>T (p.His541Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002401084]|Juvenile polyposis syndrome [RCV003597444] Chr18:51078430 [GRCh38]
Chr18:48604800 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.633dup (p.Ala212fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002354038] Chr18:51054958..51054959 [GRCh38]
Chr18:48581328..48581329 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1372G>A (p.Ala458Thr) single nucleotide variant Juvenile polyposis syndrome [RCV002294953] Chr18:51076701 [GRCh38]
Chr18:48603071 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.860_861insGATA (p.His287fs) insertion Familial thoracic aortic aneurysm and aortic dissection [RCV002447996] Chr18:51058411..51058412 [GRCh38]
Chr18:48584781..48584782 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.588C>G (p.Ser196Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353566] Chr18:51054914 [GRCh38]
Chr18:48581284 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1305A>G (p.Ile435Met) single nucleotide variant Juvenile polyposis syndrome [RCV002299012] Chr18:51067184 [GRCh38]
Chr18:48593554 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.263_287dup (p.Leu98fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002426471] Chr18:51048698..51048699 [GRCh38]
Chr18:48575068..48575069 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.320del (p.Asn107fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002445425] Chr18:51048752 [GRCh38]
Chr18:48575122 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1225G>A (p.Val409Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002364374] Chr18:51067104 [GRCh38]
Chr18:48593474 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.655G>A (p.Val219Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002364406]|Juvenile polyposis syndrome [RCV003763137] Chr18:51054981 [GRCh38]
Chr18:48581351 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.337_343del (p.Lys113fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002451744] Chr18:51048771..51048777 [GRCh38]
Chr18:48575141..48575147 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.897A>T (p.Gly299=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002376248] Chr18:51058449 [GRCh38]
Chr18:48584819 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.223C>T (p.Gln75Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002428351] Chr18:51047269 [GRCh38]
Chr18:48573639 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1158_1159insTG (p.Val387fs) insertion Familial thoracic aortic aneurysm and aortic dissection [RCV002355622] Chr18:51067037..51067038 [GRCh38]
Chr18:48593407..48593408 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1546C>T (p.Gln516Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002403263]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004059035] Chr18:51078354 [GRCh38]
Chr18:48604724 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.1366G>A (p.Ala456Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002383596]|Juvenile polyposis syndrome [RCV003774289] Chr18:51076695 [GRCh38]
Chr18:48603065 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1106A>T (p.Asn369Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002426297] Chr18:51065573 [GRCh38]
Chr18:48591943 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1491C>A (p.Arg497=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002389705]|Juvenile polyposis syndrome [RCV003095231] Chr18:51078299 [GRCh38]
Chr18:48604669 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.593C>A (p.Pro198Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002355913] Chr18:51054919 [GRCh38]
Chr18:48581289 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.654T>C (p.Pro218=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002364370] Chr18:51054980 [GRCh38]
Chr18:48581350 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.214G>A (p.Val72Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558933]|Juvenile polyposis syndrome [RCV002301728] Chr18:51047260 [GRCh38]
Chr18:48573630 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.395A>T (p.His132Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002375445] Chr18:51048831 [GRCh38]
Chr18:48575201 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.407T>C (p.Val136Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002323110] Chr18:51048843 [GRCh38]
Chr18:48575213 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.267A>G (p.Gly89=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002428877] Chr18:51048703 [GRCh38]
Chr18:48575073 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1468A>G (p.Ile490Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002396866]|Juvenile polyposis syndrome [RCV003763153] Chr18:51078276 [GRCh38]
Chr18:48604646 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1599C>G (p.Leu533=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002398572]|Juvenile polyposis syndrome [RCV003100739]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007336] Chr18:51078407 [GRCh38]
Chr18:48604777 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.501G>A (p.Glu167=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002335558]|Juvenile polyposis syndrome [RCV003096569] Chr18:51054827 [GRCh38]
Chr18:48581197 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.917del (p.Asn306fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002450029] Chr18:51059877 [GRCh38]
Chr18:48586247 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1225G>T (p.Val409Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002364393] Chr18:51067104 [GRCh38]
Chr18:48593474 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.418G>A (p.Gly140Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002327771] Chr18:51048854 [GRCh38]
Chr18:48575224 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.455C>T (p.Ala152Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002340189] Chr18:51054781 [GRCh38]
Chr18:48581151 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.969G>A (p.Trp323Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002376616] Chr18:51065436 [GRCh38]
Chr18:48591806 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1362A>G (p.Ala454=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002383512] Chr18:51076691 [GRCh38]
Chr18:48603061 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.274C>T (p.His92Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002439343] Chr18:51048710 [GRCh38]
Chr18:48575080 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.57T>G (p.Ile19Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002359882] Chr18:51047103 [GRCh38]
Chr18:48573473 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.915del (p.His305fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002378827] Chr18:51059876 [GRCh38]
Chr18:48586246 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1099C>T (p.Leu367Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002450535] Chr18:51065566 [GRCh38]
Chr18:48591936 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1464T>A (p.Ala488=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002396795]|Juvenile polyposis syndrome [RCV003774344] Chr18:51078272 [GRCh38]
Chr18:48604642 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1592G>C (p.Arg531Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002398463] Chr18:51078400 [GRCh38]
Chr18:48604770 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1067C>T (p.Pro356Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002408174] Chr18:51065534 [GRCh38]
Chr18:48591904 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1473T>G (p.Gly491=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002396998]|Juvenile polyposis syndrome [RCV003597439] Chr18:51078281 [GRCh38]
Chr18:48604651 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.718A>T (p.Ile240Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370772]|Juvenile polyposis syndrome [RCV003763139] Chr18:51058175 [GRCh38]
Chr18:48584545 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1290C>T (p.Tyr430=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002380529] Chr18:51067169 [GRCh38]
Chr18:48593539 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.139C>G (p.Leu47Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002389199] Chr18:51047185 [GRCh38]
Chr18:48573555 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.424+1G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002328207] Chr18:51048861 [GRCh38]
Chr18:48575231 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1408C>T (p.Pro470Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002389430]|not provided [RCV003138244] Chr18:51076737 [GRCh38]
Chr18:48603107 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140G>T (p.Arg380Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002456912] Chr18:51067019 [GRCh38]
Chr18:48593389 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.973T>A (p.Ser325Thr) single nucleotide variant Juvenile polyposis syndrome [RCV002298351] Chr18:51065440 [GRCh38]
Chr18:48591810 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.683T>C (p.Ile228Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002362064] Chr18:51058140 [GRCh38]
Chr18:48584510 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.430T>G (p.Ser144Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002331969] Chr18:51049300 [GRCh38]
Chr18:48575670 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1441G>C (p.Ala481Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002394370] Chr18:51076770 [GRCh38]
Chr18:48603140 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.14C>G (p.Ser5Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002389893] Chr18:51047060 [GRCh38]
Chr18:48573430 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.808G>A (p.Gly270Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558924]|not provided [RCV002300820] Chr18:51058360 [GRCh38]
Chr18:48584730 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.692del (p.Gly231fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002362388]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004052972] Chr18:51058144 [GRCh38]
Chr18:48584514 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.271C>A (p.Pro91Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002431257] Chr18:51048707 [GRCh38]
Chr18:48575077 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1093G>C (p.Gly365Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002448402] Chr18:51065560 [GRCh38]
Chr18:48591930 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.179C>A (p.Ala60Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002404270] Chr18:51047225 [GRCh38]
Chr18:48573595 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.462A>T (p.Ser154=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342549] Chr18:51054788 [GRCh38]
Chr18:48581158 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1244A>G (p.Asp415Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002391471] Chr18:51067123 [GRCh38]
Chr18:48593493 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.590C>T (p.Thr197Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002355746] Chr18:51054916 [GRCh38]
Chr18:48581286 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1000C>G (p.Gln334Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002327988] Chr18:51065467 [GRCh38]
Chr18:48591837 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1135G>C (p.Ala379Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002445697] Chr18:51065602 [GRCh38]
Chr18:48591972 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.*10C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373460] Chr18:51078477 [GRCh38]
Chr18:48604847 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.879T>A (p.Pro293=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373686] Chr18:51058431 [GRCh38]
Chr18:48584801 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1591C>G (p.Arg531Gly) single nucleotide variant Juvenile polyposis syndrome [RCV002301552] Chr18:51078399 [GRCh38]
Chr18:48604769 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.183A>T (p.Ile61=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002412793] Chr18:51047229 [GRCh38]
Chr18:48573599 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.883C>G (p.Pro295Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373793] Chr18:51058435 [GRCh38]
Chr18:48584805 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.220A>G (p.Ile74Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002425832]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007407] Chr18:51047266 [GRCh38]
Chr18:48573636 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.479dup (p.Asp160fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002337853] Chr18:51054804..51054805 [GRCh38]
Chr18:48581174..48581175 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.478G>C (p.Asp160His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002337812] Chr18:51054804 [GRCh38]
Chr18:48581174 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1212C>A (p.Asp404Glu) single nucleotide variant Juvenile polyposis syndrome [RCV002294892] Chr18:51067091 [GRCh38]
Chr18:48593461 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1434A>T (p.Ile478=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002392136] Chr18:51076763 [GRCh38]
Chr18:48603133 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.497T>C (p.Phe166Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342899] Chr18:51054823 [GRCh38]
Chr18:48581193 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1377T>G (p.Ala459=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002381082] Chr18:51076706 [GRCh38]
Chr18:48603076 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.25A>C (p.Thr9Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002426217] Chr18:51047071 [GRCh38]
Chr18:48573441 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.729G>T (p.Gly243=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002382740] Chr18:51058186 [GRCh38]
Chr18:48584556 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.950A>G (p.His317Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002374164] Chr18:51059911 [GRCh38]
Chr18:48586281 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1309-5A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002381022]|Juvenile polyposis syndrome [RCV003763147] Chr18:51076633 [GRCh38]
Chr18:48603003 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1239_1242del (p.Tyr412_Tyr413insTer) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002378398] Chr18:51067116..51067119 [GRCh38]
Chr18:48593486..48593489 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.959C>T (p.Pro320Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002374345] Chr18:51065426 [GRCh38]
Chr18:48591796 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.400G>C (p.Glu134Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002357846] Chr18:51048836 [GRCh38]
Chr18:48575206 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1147A>G (p.Ile383Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002460264] Chr18:51067026 [GRCh38]
Chr18:48593396 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002353334]|Juvenile polyposis syndrome [RCV003096895] Chr18:51054909..51054910 [GRCh38]
Chr18:48581279..48581280 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.961G>A (p.Glu321Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002382518]|Juvenile polyposis syndrome [RCV002305083] Chr18:51065428 [GRCh38]
Chr18:48591798 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1387G>A (p.Ala463Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002396573] Chr18:51076716 [GRCh38]
Chr18:48603086 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1379C>T (p.Ala460Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002381113] Chr18:51076708 [GRCh38]
Chr18:48603078 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.77A>G (p.His26Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002409895] Chr18:51047123 [GRCh38]
Chr18:48573493 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.239G>A (p.Gly80Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002450238] Chr18:51047285 [GRCh38]
Chr18:48573655 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1396G>T (p.Ala466Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002389129] Chr18:51076725 [GRCh38]
Chr18:48603095 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1448-11T>C single nucleotide variant Juvenile polyposis syndrome [RCV002881387] Chr18:51078245 [GRCh38]
Chr18:48604615 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.424+13T>G single nucleotide variant Juvenile polyposis syndrome [RCV003014551] Chr18:51048873 [GRCh38]
Chr18:48575243 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.392A>G (p.Tyr131Cys) single nucleotide variant not provided [RCV002511896] Chr18:51048828 [GRCh38]
Chr18:48575198 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1480G>T (p.Asp494Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV003014395] Chr18:51078288 [GRCh38]
Chr18:48604658 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-16_1140-15del deletion Juvenile polyposis syndrome [RCV002862272] Chr18:51067002..51067003 [GRCh38]
Chr18:48593372..48593373 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+10C>T single nucleotide variant Juvenile polyposis syndrome [RCV003015884] Chr18:51076786 [GRCh38]
Chr18:48603156 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-18G>A single nucleotide variant Juvenile polyposis syndrome [RCV003017635] Chr18:51054763 [GRCh38]
Chr18:48581133 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1572G>T (p.Trp524Cys) single nucleotide variant Juvenile polyposis syndrome [RCV003076990] Chr18:51078380 [GRCh38]
Chr18:48604750 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1401A>G (p.Gly467=) single nucleotide variant Juvenile polyposis syndrome [RCV003014143] Chr18:51076730 [GRCh38]
Chr18:48603100 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1356T>C (p.Ala452=) single nucleotide variant Juvenile polyposis syndrome [RCV002866099] Chr18:51076685 [GRCh38]
Chr18:48603055 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1371A>T (p.Ala457=) single nucleotide variant Juvenile polyposis syndrome [RCV003077026] Chr18:51076700 [GRCh38]
Chr18:48603070 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-2A>G single nucleotide variant Juvenile polyposis syndrome [RCV002842558] Chr18:51078254 [GRCh38]
Chr18:48604624 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.856G>T (p.Gly286Cys) single nucleotide variant Juvenile polyposis syndrome [RCV002971892] Chr18:51058408 [GRCh38]
Chr18:48584778 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+14T>A single nucleotide variant Juvenile polyposis syndrome [RCV002838710] Chr18:51055007 [GRCh38]
Chr18:48581377 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.393T>C (p.Tyr131=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559981]|Juvenile polyposis syndrome [RCV002880753] Chr18:51048829 [GRCh38]
Chr18:48575199 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1302T>C (p.Tyr434=) single nucleotide variant Juvenile polyposis syndrome [RCV003015715] Chr18:51067181 [GRCh38]
Chr18:48593551 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+20C>G single nucleotide variant Juvenile polyposis syndrome [RCV003032693] Chr18:51049344 [GRCh38]
Chr18:48575714 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-6del deletion Juvenile polyposis syndrome [RCV002819459] Chr18:51058118 [GRCh38]
Chr18:48584488 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+12G>C single nucleotide variant Juvenile polyposis syndrome [RCV003075699] Chr18:51049336 [GRCh38]
Chr18:48575706 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.476A>T (p.Lys159Met) single nucleotide variant Juvenile polyposis syndrome [RCV002685727] Chr18:51054802 [GRCh38]
Chr18:48581172 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+19T>A single nucleotide variant Juvenile polyposis syndrome [RCV002995444] Chr18:51055012 [GRCh38]
Chr18:48581382 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.130G>T (p.Val44Leu) single nucleotide variant Juvenile polyposis syndrome [RCV003053482] Chr18:51047176 [GRCh38]
Chr18:48573546 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.139C>T (p.Leu47=) single nucleotide variant Juvenile polyposis syndrome [RCV002638360] Chr18:51047185 [GRCh38]
Chr18:48573555 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1420T>A (p.Ser474Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003054921] Chr18:51076749 [GRCh38]
Chr18:48603119 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.358G>A (p.Asp120Asn) single nucleotide variant Juvenile polyposis syndrome [RCV002825305] Chr18:51048794 [GRCh38]
Chr18:48575164 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(48556994_48573289)_48573471dup duplication Juvenile polyposis syndrome [RCV002510378] Chr18:48573289..48573471 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.527G>T (p.Gly176Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004560002]|Juvenile polyposis syndrome [RCV003018508] Chr18:51054853 [GRCh38]
Chr18:48581223 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.454G>A (p.Ala152Thr) single nucleotide variant Juvenile polyposis syndrome [RCV002619088] Chr18:51049324 [GRCh38]
Chr18:48575694 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1058A>T (p.Tyr353Phe) single nucleotide variant Juvenile polyposis syndrome [RCV002885320] Chr18:51065525 [GRCh38]
Chr18:48591895 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.170_173del (p.Ser56_Leu57insTer) deletion Juvenile polyposis syndrome [RCV003038895] Chr18:51047215..51047218 [GRCh38]
Chr18:48573585..48573588 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.454+19A>G single nucleotide variant Juvenile polyposis syndrome [RCV002909428] Chr18:51049343 [GRCh38]
Chr18:48575713 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.249+10A>T single nucleotide variant Juvenile polyposis syndrome [RCV002949552] Chr18:51047305 [GRCh38]
Chr18:48573675 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.44C>T (p.Ala15Val) single nucleotide variant Juvenile polyposis syndrome [RCV002975984] Chr18:51047090 [GRCh38]
Chr18:48573460 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1171T>C (p.Cys391Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004560057]|Juvenile polyposis syndrome [RCV002636698] Chr18:51067050 [GRCh38]
Chr18:48593420 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.33A>C (p.Thr11=) single nucleotide variant Juvenile polyposis syndrome [RCV003019140] Chr18:51047079 [GRCh38]
Chr18:48573449 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.250-5del deletion Juvenile polyposis syndrome [RCV003054249] Chr18:51048677 [GRCh38]
Chr18:48575047 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.495C>T (p.Asp165=) single nucleotide variant Juvenile polyposis syndrome [RCV003054007] Chr18:51054821 [GRCh38]
Chr18:48581191 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.4G>C (p.Asp2His) single nucleotide variant Juvenile polyposis syndrome [RCV003021179] Chr18:51047050 [GRCh38]
Chr18:48573420 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1010del (p.Glu337fs) deletion Juvenile polyposis syndrome [RCV002797085] Chr18:51065477 [GRCh38]
Chr18:48591847 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.51G>A (p.Leu17=) single nucleotide variant Juvenile polyposis syndrome [RCV002885042] Chr18:51047097 [GRCh38]
Chr18:48573467 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1470del (p.Ile490fs) deletion Juvenile polyposis syndrome [RCV002846551] Chr18:51078277 [GRCh38]
Chr18:48604647 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.803G>A (p.Trp268Ter) single nucleotide variant Juvenile polyposis syndrome [RCV002889248] Chr18:51058355 [GRCh38]
Chr18:48584725 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.534A>G (p.Ser178=) single nucleotide variant Juvenile polyposis syndrome [RCV003006204] Chr18:51054860 [GRCh38]
Chr18:48581230 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.137_155del (p.Lys46fs) deletion Juvenile polyposis syndrome [RCV003008352] Chr18:51047178..51047196 [GRCh38]
Chr18:48573548..48573566 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.425-12T>C single nucleotide variant Juvenile polyposis syndrome [RCV003085716] Chr18:51049283 [GRCh38]
Chr18:48575653 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1506G>A (p.Arg502=) single nucleotide variant Juvenile polyposis syndrome [RCV002875999] Chr18:51078314 [GRCh38]
Chr18:48604684 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-8C>A single nucleotide variant Juvenile polyposis syndrome [RCV002790801] Chr18:51054773 [GRCh38]
Chr18:48581143 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.406G>A (p.Val136Ile) single nucleotide variant Juvenile polyposis syndrome [RCV002928944] Chr18:51048842 [GRCh38]
Chr18:48575212 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+17T>A single nucleotide variant Juvenile polyposis syndrome [RCV002872392] Chr18:51067204 [GRCh38]
Chr18:48593574 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.522T>C (p.Thr174=) single nucleotide variant Juvenile polyposis syndrome [RCV003022955]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004009263] Chr18:51054848 [GRCh38]
Chr18:48581218 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1257G>T (p.Gly419=) single nucleotide variant Juvenile polyposis syndrome [RCV003057751] Chr18:51067136 [GRCh38]
Chr18:48593506 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1586T>G (p.Leu529Ter) single nucleotide variant Juvenile polyposis syndrome [RCV003024690] Chr18:51078394 [GRCh38]
Chr18:48604764 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.589A>T (p.Thr197Ser) single nucleotide variant Juvenile polyposis syndrome [RCV002982369] Chr18:51054915 [GRCh38]
Chr18:48581285 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.33A>T (p.Thr11=) single nucleotide variant Juvenile polyposis syndrome [RCV003024919] Chr18:51047079 [GRCh38]
Chr18:48573449 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.424+10C>G single nucleotide variant Juvenile polyposis syndrome [RCV002711344] Chr18:51048870 [GRCh38]
Chr18:48575240 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.270T>C (p.Phe90=) single nucleotide variant Juvenile polyposis syndrome [RCV002876122] Chr18:51048706 [GRCh38]
Chr18:48575076 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.477G>A (p.Lys159=) single nucleotide variant Juvenile polyposis syndrome [RCV002850933] Chr18:51054803 [GRCh38]
Chr18:48581173 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.420A>G (p.Gly140=) single nucleotide variant Juvenile polyposis syndrome [RCV003024463] Chr18:51048856 [GRCh38]
Chr18:48575226 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.249+10dup duplication Juvenile polyposis syndrome [RCV002805294] Chr18:51047304..51047305 [GRCh38]
Chr18:48573674..48573675 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.617C>G (p.Ser206Cys) single nucleotide variant Juvenile polyposis syndrome [RCV002700384]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007547] Chr18:51054943 [GRCh38]
Chr18:48581313 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1537T>A (p.Tyr513Asn) single nucleotide variant Juvenile polyposis syndrome [RCV003059319] Chr18:51078345 [GRCh38]
Chr18:48604715 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+16A>G single nucleotide variant Juvenile polyposis syndrome [RCV003086219] Chr18:51067203 [GRCh38]
Chr18:48593573 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.793A>C (p.Thr265Pro) single nucleotide variant Juvenile polyposis syndrome [RCV003010276] Chr18:51058345 [GRCh38]
Chr18:48584715 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.386A>G (p.Asn129Ser) single nucleotide variant Juvenile polyposis syndrome [RCV002938424] Chr18:51048822 [GRCh38]
Chr18:48575192 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1650T>C (p.Pro550=) single nucleotide variant Juvenile polyposis syndrome [RCV003065949] Chr18:51078458 [GRCh38]
Chr18:48604828 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.2T>C (p.Met1Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004560050]|Juvenile polyposis syndrome [RCV002599165] Chr18:51047048 [GRCh38]
Chr18:48573418 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.822A>G (p.Ala274=) single nucleotide variant Juvenile polyposis syndrome [RCV003030826] Chr18:51058374 [GRCh38]
Chr18:48584744 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1260T>C (p.Arg420=) single nucleotide variant Juvenile polyposis syndrome [RCV003047969] Chr18:51067139 [GRCh38]
Chr18:48593509 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+18T>C single nucleotide variant Juvenile polyposis syndrome [RCV003011527] Chr18:51067205 [GRCh38]
Chr18:48593575 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.850C>T (p.Gln284Ter) single nucleotide variant Juvenile polyposis syndrome [RCV002899128] Chr18:51058402 [GRCh38]
Chr18:48584772 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1448-15A>C single nucleotide variant Juvenile polyposis syndrome [RCV003088361] Chr18:51078241 [GRCh38]
Chr18:48604611 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-14T>G single nucleotide variant Juvenile polyposis syndrome [RCV003086201] Chr18:51058111 [GRCh38]
Chr18:48584481 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.292C>G (p.Leu98Val) single nucleotide variant Juvenile polyposis syndrome [RCV002647897] Chr18:51048728 [GRCh38]
Chr18:48575098 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.456T>C (p.Ala152=) single nucleotide variant Juvenile polyposis syndrome [RCV002856790] Chr18:51054782 [GRCh38]
Chr18:48581152 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1204C>A (p.Leu402Ile) single nucleotide variant Juvenile polyposis syndrome [RCV003045407] Chr18:51067083 [GRCh38]
Chr18:48593453 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.778_779dup (p.His261fs) duplication Juvenile polyposis syndrome [RCV003029486] Chr18:51058234..51058235 [GRCh38]
Chr18:48584604..48584605 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1357A>G (p.Thr453Ala) single nucleotide variant Juvenile polyposis syndrome [RCV003027962] Chr18:51076686 [GRCh38]
Chr18:48603056 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1425A>G (p.Val475=) single nucleotide variant Juvenile polyposis syndrome [RCV002720416] Chr18:51076754 [GRCh38]
Chr18:48603124 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1311C>T (p.Val437=) single nucleotide variant Juvenile polyposis syndrome [RCV002601716]|not specified [RCV003493965] Chr18:51076640 [GRCh38]
Chr18:48603010 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.894C>G (p.Pro298=) single nucleotide variant Juvenile polyposis syndrome [RCV003048002] Chr18:51058446 [GRCh38]
Chr18:48584816 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.250-18G>C single nucleotide variant Juvenile polyposis syndrome [RCV002834579] Chr18:51048668 [GRCh38]
Chr18:48575038 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.432A>G (p.Ser144=) single nucleotide variant Juvenile polyposis syndrome [RCV002811704] Chr18:51049302 [GRCh38]
Chr18:48575672 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.340T>G (p.Tyr114Asp) single nucleotide variant Juvenile polyposis syndrome [RCV003046121] Chr18:51048776 [GRCh38]
Chr18:48575146 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.425-18C>T single nucleotide variant Juvenile polyposis syndrome [RCV002962343] Chr18:51049277 [GRCh38]
Chr18:48575647 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+6T>A single nucleotide variant Juvenile polyposis syndrome [RCV003046707] Chr18:51054999 [GRCh38]
Chr18:48581369 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.156T>G (p.Asp52Glu) single nucleotide variant Juvenile polyposis syndrome [RCV003044668] Chr18:51047202 [GRCh38]
Chr18:48573572 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.425-9A>G single nucleotide variant Juvenile polyposis syndrome [RCV003044912] Chr18:51049286 [GRCh38]
Chr18:48575656 [GRCh37]
Chr18:18q21.2		 pathogenic|uncertain significance
NM_005359.6(SMAD4):c.766C>T (p.Gln256Ter) single nucleotide variant Juvenile polyposis syndrome [RCV003030166] Chr18:51058223 [GRCh38]
Chr18:48584593 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1063G>A (p.Asp355Asn) single nucleotide variant Juvenile polyposis syndrome [RCV003026318] Chr18:51065530 [GRCh38]
Chr18:48591900 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.424+9A>C single nucleotide variant Juvenile polyposis syndrome [RCV003064136] Chr18:51048869 [GRCh38]
Chr18:48575239 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.729G>A (p.Gly243=) single nucleotide variant Juvenile polyposis syndrome [RCV002877422] Chr18:51058186 [GRCh38]
Chr18:48584556 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+16A>T single nucleotide variant Juvenile polyposis syndrome [RCV003051863] Chr18:51067203 [GRCh38]
Chr18:48593573 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.454+15T>C single nucleotide variant Juvenile polyposis syndrome [RCV002653182] Chr18:51049339 [GRCh38]
Chr18:48575709 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1309-17A>G single nucleotide variant Juvenile polyposis syndrome [RCV003093629] Chr18:51076621 [GRCh38]
Chr18:48602991 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.391dup (p.Tyr131fs) duplication Juvenile polyposis syndrome [RCV002942209] Chr18:51048826..51048827 [GRCh38]
Chr18:48575196..48575197 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.955+6T>C single nucleotide variant Juvenile polyposis syndrome [RCV002942889]|not specified [RCV003988038] Chr18:51059922 [GRCh38]
Chr18:48586292 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.455-19T>C single nucleotide variant Juvenile polyposis syndrome [RCV002603220] Chr18:51054762 [GRCh38]
Chr18:48581132 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1139+14A>C single nucleotide variant Juvenile polyposis syndrome [RCV003069292] Chr18:51065620 [GRCh38]
Chr18:48591990 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+20G>A single nucleotide variant Juvenile polyposis syndrome [RCV003071746] Chr18:51058476 [GRCh38]
Chr18:48584846 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.668-13_668-11del microsatellite Hereditary cancer-predisposing syndrome [RCV003585346]|Juvenile polyposis syndrome [RCV003070754] Chr18:51058108..51058110 [GRCh38]
Chr18:48584478..48584480 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.905-11C>G single nucleotide variant Juvenile polyposis syndrome [RCV003070777] Chr18:51059855 [GRCh38]
Chr18:48586225 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.117A>G (p.Ala39=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585351]|Juvenile polyposis syndrome [RCV003073212] Chr18:51047163 [GRCh38]
Chr18:48573533 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.453T>A (p.Asn151Lys) single nucleotide variant Juvenile polyposis syndrome [RCV002654410] Chr18:51049323 [GRCh38]
Chr18:48575693 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.847C>T (p.His283Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV003072231] Chr18:51058399 [GRCh38]
Chr18:48584769 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.517T>G (p.Ser173Ala) single nucleotide variant Juvenile polyposis syndrome [RCV002653902] Chr18:51054843 [GRCh38]
Chr18:48581213 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+12A>G single nucleotide variant Juvenile polyposis syndrome [RCV002612041] Chr18:51047307 [GRCh38]
Chr18:48573677 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.892C>T (p.Pro298Ser) single nucleotide variant Juvenile polyposis syndrome [RCV003049539] Chr18:51058444 [GRCh38]
Chr18:48584814 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.249+16G>T single nucleotide variant Juvenile polyposis syndrome [RCV002943360] Chr18:51047311 [GRCh38]
Chr18:48573681 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+11A>G single nucleotide variant Juvenile polyposis syndrome [RCV002943459] Chr18:51067198 [GRCh38]
Chr18:48593568 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1012A>G (p.Thr338Ala) single nucleotide variant not provided [RCV003228333] Chr18:51065479 [GRCh38]
Chr18:48591849 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.864T>C (p.Leu288=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003165094] Chr18:51058416 [GRCh38]
Chr18:48584786 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1233_1249del (p.Ser411fs) deletion Gastric cancer [RCV003164697] Chr18:51067106..51067122 [GRCh38]
Chr18:48593476..48593492 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1544G>A (p.Arg515Lys) single nucleotide variant not provided [RCV003225568] Chr18:51078352 [GRCh38]
Chr18:48604722 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1453T>C (p.Ser485Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172601] Chr18:51078261 [GRCh38]
Chr18:48604631 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-5del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003172602] Chr18:51067013 [GRCh38]
Chr18:48593383 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.107C>T (p.Ala36Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172603] Chr18:51047153 [GRCh38]
Chr18:48573523 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.835A>T (p.Asn279Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172604] Chr18:51058387 [GRCh38]
Chr18:48584757 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1278T>C (p.Val426=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172605] Chr18:51067157 [GRCh38]
Chr18:48593527 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1566T>A (p.Pro522=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172606] Chr18:51078374 [GRCh38]
Chr18:48604744 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-15A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172612] Chr18:51078241 [GRCh38]
Chr18:48604611 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1104C>G (p.Ser368=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172613] Chr18:51065571 [GRCh38]
Chr18:48591941 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.965A>G (p.Tyr322Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172615] Chr18:51065432 [GRCh38]
Chr18:48591802 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.549G>A (p.Gln183=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172616] Chr18:51054875 [GRCh38]
Chr18:48581245 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1014A>T (p.Thr338=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172618]|Juvenile polyposis syndrome [RCV003761632] Chr18:51065481 [GRCh38]
Chr18:48591851 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.667+1G>C single nucleotide variant Gastric cancer [RCV003164589] Chr18:51054994 [GRCh38]
Chr18:48581364 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.250G>T (p.Val84Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172607] Chr18:51048686 [GRCh38]
Chr18:48575056 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.168T>C (p.Ser56=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172608] Chr18:51047214 [GRCh38]
Chr18:48573584 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1632G>T (p.Pro544=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172609]|Juvenile polyposis syndrome [RCV003761631] Chr18:51078440 [GRCh38]
Chr18:48604810 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.727G>A (p.Gly243Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172610] Chr18:51058184 [GRCh38]
Chr18:48584554 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.858C>A (p.Gly286=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172611]|Juvenile polyposis syndrome [RCV003596235] Chr18:51058410 [GRCh38]
Chr18:48584780 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.*1837C>T single nucleotide variant Myhre syndrome [RCV003142290] Chr18:51080304 [GRCh38]
Chr18:48606674 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1551C>T (p.Ser517=) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 2 [RCV003142396] Chr18:51078359 [GRCh38]
Chr18:48604729 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1349A>G (p.Gln450Arg) single nucleotide variant Colorectal cancer, hereditary nonpolyposis, type 2 [RCV003142398] Chr18:51076678 [GRCh38]
Chr18:48603048 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1552dup (p.Ile518fs) duplication Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003140325] Chr18:51078359..51078360 [GRCh38]
Chr18:48604729..48604730 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.332A>T (p.His111Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003164838]|not provided [RCV003136866] Chr18:51048768 [GRCh38]
Chr18:48575138 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.513_514del (p.Leu172fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003140393] Chr18:51054839..51054840 [GRCh38]
Chr18:48581209..48581210 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.794dup (p.Thr266fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003172600] Chr18:51058345..51058346 [GRCh38]
Chr18:48584715..48584716 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.710T>C (p.Leu237Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003172614]|Juvenile polyposis syndrome [RCV003596236] Chr18:51058167 [GRCh38]
Chr18:48584537 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-41C>T single nucleotide variant not specified [RCV003321989] Chr18:51048645 [GRCh38]
Chr18:48575015 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+37T>G single nucleotide variant not specified [RCV003322386] Chr18:51058493 [GRCh38]
Chr18:48584863 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904+36_904+37insAT insertion not specified [RCV003322385] Chr18:51058491..51058492 [GRCh38]
Chr18:48584861..48584862 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1529dup (p.Pro511fs) duplication not provided [RCV003322388] Chr18:51078333..51078334 [GRCh38]
Chr18:48604703..48604704 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1140-26A>C single nucleotide variant not specified [RCV003322387] Chr18:51066993 [GRCh38]
Chr18:48593363 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.250-42G>T single nucleotide variant not specified [RCV003321988] Chr18:51048644 [GRCh38]
Chr18:48575014 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.934C>A (p.Pro312Thr) single nucleotide variant not provided [RCV003318969] Chr18:51059895 [GRCh38]
Chr18:48586265 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668-26A>G single nucleotide variant not specified [RCV003322384] Chr18:51058099 [GRCh38]
Chr18:48584469 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1066C>T (p.Pro356Ser) single nucleotide variant SMAD4-related disorder [RCV003397394] Chr18:51065533 [GRCh38]
Chr18:48591903 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1058_1061del (p.Tyr353fs) deletion Juvenile polyposis syndrome [RCV003334438] Chr18:51065524..51065527 [GRCh38]
Chr18:48591894..48591897 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.875del (p.Pro292fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003455813]|Myhre syndrome [RCV003387574] Chr18:51058425 [GRCh38]
Chr18:48584795 [GRCh37]
Chr18:18q21.2		 pathogenic|likely pathogenic
NM_005359.6(SMAD4):c.455-2A>T single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003463548] Chr18:51054779 [GRCh38]
Chr18:48581149 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1515dup (p.Val506fs) duplication Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003463549] Chr18:51078319..51078320 [GRCh38]
Chr18:48604689..48604690 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.699dup (p.Ser234Ter) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV004560173]|Juvenile polyposis syndrome [RCV003596249]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003452620] Chr18:51058155..51058156 [GRCh38]
Chr18:48584525..48584526 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.801C>G (p.Thr267=) single nucleotide variant Juvenile polyposis syndrome [RCV003875285] Chr18:51058353 [GRCh38]
Chr18:48584723 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.31A>C (p.Thr11Pro) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474041] Chr18:51047077 [GRCh38]
Chr18:48573447 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1631C>T (p.Pro544Leu) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474039] Chr18:51078439 [GRCh38]
Chr18:48604809 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.592C>G (p.Pro198Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004560189]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003474040] Chr18:51054918 [GRCh38]
Chr18:48581288 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.931C>G (p.Gln311Glu) single nucleotide variant SMAD4-related disorder [RCV003404176] Chr18:51059892 [GRCh38]
Chr18:48586262 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.788-16G>A single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV003463547] Chr18:51058324 [GRCh38]
Chr18:48584694 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.106G>T (p.Ala36Ser) single nucleotide variant SMAD4-related disorder [RCV003410550] Chr18:51047152 [GRCh38]
Chr18:48573522 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.487G>T (p.Val163Leu) single nucleotide variant Juvenile polyposis syndrome [RCV003596246]|SMAD4-related disorder [RCV003400241] Chr18:51054813 [GRCh38]
Chr18:48581183 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1504A>C (p.Arg502=) single nucleotide variant Juvenile polyposis syndrome [RCV003829078] Chr18:51078312 [GRCh38]
Chr18:48604682 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.663C>T (p.Ser221=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559044]|Juvenile polyposis syndrome [RCV003882690] Chr18:51054989 [GRCh38]
Chr18:48581359 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.460T>C (p.Ser154Pro) single nucleotide variant Juvenile polyposis syndrome [RCV003830913] Chr18:51054786 [GRCh38]
Chr18:48581156 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1450C>G (p.Leu484Val) single nucleotide variant Juvenile polyposis syndrome [RCV003827698] Chr18:51078258 [GRCh38]
Chr18:48604628 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.72G>A (p.Met24Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585811]|Juvenile polyposis syndrome [RCV003761686] Chr18:51047118 [GRCh38]
Chr18:48573488 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.260G>A (p.Arg87Gln) single nucleotide variant Juvenile polyposis syndrome [RCV003825752] Chr18:51048696 [GRCh38]
Chr18:48575066 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+30A>G single nucleotide variant not specified [RCV003494224] Chr18:51055023 [GRCh38]
Chr18:48581393 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.849C>G (p.His283Gln) single nucleotide variant Juvenile polyposis syndrome [RCV003597023] Chr18:51058401 [GRCh38]
Chr18:48584771 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.888C>A (p.Pro296=) single nucleotide variant Juvenile polyposis syndrome [RCV003597035] Chr18:51058440 [GRCh38]
Chr18:48584810 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.79A>G (p.Arg27Gly) single nucleotide variant Juvenile polyposis syndrome [RCV003597045] Chr18:51047125 [GRCh38]
Chr18:48573495 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.687G>T (p.Leu229=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558179]|Juvenile polyposis syndrome [RCV003762413] Chr18:51058144 [GRCh38]
Chr18:48584514 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.904T>A (p.Trp302Arg) single nucleotide variant Juvenile polyposis syndrome [RCV003597102] Chr18:51058456 [GRCh38]
Chr18:48584826 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.208_215del (p.Lys70fs) deletion Juvenile polyposis syndrome [RCV003597155] Chr18:51047252..51047259 [GRCh38]
Chr18:48573622..48573629 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.454+9T>C single nucleotide variant Juvenile polyposis syndrome [RCV003762398] Chr18:51049333 [GRCh38]
Chr18:48575703 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.96T>C (p.Ser32=) single nucleotide variant Juvenile polyposis syndrome [RCV003762535] Chr18:51047142 [GRCh38]
Chr18:48573512 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.898C>G (p.His300Asp) single nucleotide variant Juvenile polyposis syndrome [RCV003597149] Chr18:51058450 [GRCh38]
Chr18:48584820 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.401A>G (p.Glu134Gly) single nucleotide variant Juvenile polyposis syndrome [RCV003597186] Chr18:51048837 [GRCh38]
Chr18:48575207 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.703G>A (p.Glu235Lys) single nucleotide variant Juvenile polyposis syndrome [RCV003597187] Chr18:51058160 [GRCh38]
Chr18:48584530 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.424+2T>C single nucleotide variant Juvenile polyposis syndrome [RCV003762576] Chr18:51048862 [GRCh38]
Chr18:48575232 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1036C>A (p.Pro346Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003762539] Chr18:51065503 [GRCh38]
Chr18:48591873 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.121G>T (p.Glu41Ter) single nucleotide variant Juvenile polyposis syndrome [RCV003762642] Chr18:51047167 [GRCh38]
Chr18:48573537 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1309-14T>C single nucleotide variant Juvenile polyposis syndrome [RCV003762623] Chr18:51076624 [GRCh38]
Chr18:48602994 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.885G>C (p.Pro295=) single nucleotide variant Juvenile polyposis syndrome [RCV003762629] Chr18:51058437 [GRCh38]
Chr18:48584807 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.938C>A (p.Pro313His) single nucleotide variant Juvenile polyposis syndrome [RCV003762719] Chr18:51059899 [GRCh38]
Chr18:48586269 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1583A>G (p.His528Arg) single nucleotide variant Juvenile polyposis syndrome [RCV003763335] Chr18:51078391 [GRCh38]
Chr18:48604761 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.665C>T (p.Thr222Ile) single nucleotide variant Juvenile polyposis syndrome [RCV003763303] Chr18:51054991 [GRCh38]
Chr18:48581361 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.354G>T (p.Ala118=) single nucleotide variant Juvenile polyposis syndrome [RCV003763350] Chr18:51048790 [GRCh38]
Chr18:48575160 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.428T>C (p.Leu143Pro) single nucleotide variant Juvenile polyposis syndrome [RCV003763341] Chr18:51049298 [GRCh38]
Chr18:48575668 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.936_939del (p.Pro313fs) deletion Juvenile polyposis syndrome [RCV003763398] Chr18:51059895..51059898 [GRCh38]
Chr18:48586265..48586268 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.166T>G (p.Ser56Ala) single nucleotide variant Juvenile polyposis syndrome [RCV003763422] Chr18:51047212 [GRCh38]
Chr18:48573582 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1498A>C (p.Ile500Leu) single nucleotide variant Juvenile polyposis syndrome [RCV003763558] Chr18:51078306 [GRCh38]
Chr18:48604676 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1262C>T (p.Ala421Val) single nucleotide variant Juvenile polyposis syndrome [RCV003596316] Chr18:51067141 [GRCh38]
Chr18:48593511 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1599C>T (p.Leu533=) single nucleotide variant Juvenile polyposis syndrome [RCV003596396] Chr18:51078407 [GRCh38]
Chr18:48604777 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1630C>T (p.Pro544Ser) single nucleotide variant Juvenile polyposis syndrome [RCV003596397]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004574066] Chr18:51078438 [GRCh38]
Chr18:48604808 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1127T>C (p.Ile376Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003596391] Chr18:51065594 [GRCh38]
Chr18:48591964 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1649C>T (p.Pro550Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558145]|Juvenile polyposis syndrome [RCV003596758] Chr18:51078457 [GRCh38]
Chr18:48604827 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1563A>T (p.Thr521=) single nucleotide variant Juvenile polyposis syndrome [RCV003763735] Chr18:51078371 [GRCh38]
Chr18:48604741 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.905-14T>G single nucleotide variant Juvenile polyposis syndrome [RCV003596721] Chr18:51059852 [GRCh38]
Chr18:48586222 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1300T>A (p.Tyr434Asn) single nucleotide variant Juvenile polyposis syndrome [RCV003596759] Chr18:51067179 [GRCh38]
Chr18:48593549 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.5A>C (p.Asp2Ala) single nucleotide variant Juvenile polyposis syndrome [RCV003761730]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004011651] Chr18:51047051 [GRCh38]
Chr18:48573421 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.558A>G (p.Pro186=) single nucleotide variant Juvenile polyposis syndrome [RCV003596890] Chr18:51054884 [GRCh38]
Chr18:48581254 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.883C>A (p.Pro295Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003596869] Chr18:51058435 [GRCh38]
Chr18:48584805 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.668-13C>G single nucleotide variant Juvenile polyposis syndrome [RCV003762354] Chr18:51058112 [GRCh38]
Chr18:48584482 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+14T>C single nucleotide variant Juvenile polyposis syndrome [RCV003762367] Chr18:51076790 [GRCh38]
Chr18:48603160 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.956-15A>G single nucleotide variant Juvenile polyposis syndrome [RCV003764350] Chr18:51065408 [GRCh38]
Chr18:48591778 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.243G>A (p.Arg81=) single nucleotide variant Juvenile polyposis syndrome [RCV003596987] Chr18:51047289 [GRCh38]
Chr18:48573659 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1264C>T (p.Pro422Ser) single nucleotide variant Juvenile polyposis syndrome [RCV003762488] Chr18:51067143 [GRCh38]
Chr18:48593513 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1585_1590del (p.Leu529_His530del) deletion Juvenile polyposis syndrome [RCV003596362] Chr18:51078390..51078395 [GRCh38]
Chr18:48604760..48604765 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.454+11T>C single nucleotide variant Juvenile polyposis syndrome [RCV003596364] Chr18:51049335 [GRCh38]
Chr18:48575705 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.569C>G (p.Ala190Gly) single nucleotide variant Juvenile polyposis syndrome [RCV003596365] Chr18:51054895 [GRCh38]
Chr18:48581265 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+8T>G single nucleotide variant Juvenile polyposis syndrome [RCV003596372] Chr18:51076784 [GRCh38]
Chr18:48603154 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.86G>A (p.Gly29Asp) single nucleotide variant Juvenile polyposis syndrome [RCV003596373] Chr18:51047132 [GRCh38]
Chr18:48573502 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1139+13T>C single nucleotide variant Juvenile polyposis syndrome [RCV003596389] Chr18:51065619 [GRCh38]
Chr18:48591989 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.326_331del (p.Leu109_Lys110del) deletion Juvenile polyposis syndrome [RCV003597111] Chr18:51048759..51048764 [GRCh38]
Chr18:48575129..48575134 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.819dup (p.Ala274fs) duplication Juvenile polyposis syndrome [RCV003762563] Chr18:51058370..51058371 [GRCh38]
Chr18:48584740..48584741 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.916A>C (p.Asn306His) single nucleotide variant Juvenile polyposis syndrome [RCV003597169] Chr18:51059877 [GRCh38]
Chr18:48586247 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.425-16C>A single nucleotide variant Juvenile polyposis syndrome [RCV003596369] Chr18:51049279 [GRCh38]
Chr18:48575649 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.598C>G (p.Leu200Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558191]|Juvenile polyposis syndrome [RCV003762612] Chr18:51054924 [GRCh38]
Chr18:48581294 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.906G>C (p.Trp302Cys) single nucleotide variant Juvenile polyposis syndrome [RCV003762653] Chr18:51059867 [GRCh38]
Chr18:48586237 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.425-19T>C single nucleotide variant Juvenile polyposis syndrome [RCV003763651] Chr18:51049276 [GRCh38]
Chr18:48575646 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.425-7A>G single nucleotide variant Juvenile polyposis syndrome [RCV003596731] Chr18:51049288 [GRCh38]
Chr18:48575658 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.504A>T (p.Gly168=) single nucleotide variant Juvenile polyposis syndrome [RCV003817161] Chr18:51054830 [GRCh38]
Chr18:48581200 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1346A>G (p.Gln449Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558168]|Juvenile polyposis syndrome [RCV003761694] Chr18:51076675 [GRCh38]
Chr18:48603045 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.588C>T (p.Ser196=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558171]|Juvenile polyposis syndrome [RCV003761709] Chr18:51054914 [GRCh38]
Chr18:48581284 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.959C>G (p.Pro320Arg) single nucleotide variant Juvenile polyposis syndrome [RCV003596817] Chr18:51065426 [GRCh38]
Chr18:48591796 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.853A>G (p.Asn285Asp) single nucleotide variant Juvenile polyposis syndrome [RCV003596864] Chr18:51058405 [GRCh38]
Chr18:48584775 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1296T>C (p.Ser432=) single nucleotide variant Juvenile polyposis syndrome [RCV003596868] Chr18:51067175 [GRCh38]
Chr18:48593545 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-10T>G single nucleotide variant Juvenile polyposis syndrome [RCV003596899] Chr18:51054771 [GRCh38]
Chr18:48581141 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1011G>A (p.Glu337=) single nucleotide variant Juvenile polyposis syndrome [RCV003596877] Chr18:51065478 [GRCh38]
Chr18:48591848 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1309-2del deletion Juvenile polyposis syndrome [RCV003763400] Chr18:51076633 [GRCh38]
Chr18:48603003 [GRCh37]
Chr18:18q21.2		 benign
NM_005359.6(SMAD4):c.904+16_904+61del deletion Juvenile polyposis syndrome [RCV003763401] Chr18:51058465..51058510 [GRCh38]
Chr18:48584835..48584880 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1628T>C (p.Met543Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003763358] Chr18:51078436 [GRCh38]
Chr18:48604806 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.956-14T>C single nucleotide variant Juvenile polyposis syndrome [RCV003764351] Chr18:51065409 [GRCh38]
Chr18:48591779 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1001A>G (p.Gln334Arg) single nucleotide variant Juvenile polyposis syndrome [RCV003597010] Chr18:51065468 [GRCh38]
Chr18:48591838 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-13A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585807] Chr18:51047034 [GRCh38]
Chr18:48573404 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.383_384del (p.Val128fs) microsatellite Hereditary cancer-predisposing syndrome [RCV003585812] Chr18:51048815..51048816 [GRCh38]
Chr18:48575185..48575186 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.740G>T (p.Gly247Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585814] Chr18:51058197 [GRCh38]
Chr18:48584567 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.907C>A (p.Pro303Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585816] Chr18:51059868 [GRCh38]
Chr18:48586238 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.779A>G (p.Tyr260Cys) single nucleotide variant Juvenile polyposis syndrome [RCV003762364] Chr18:51058236 [GRCh38]
Chr18:48584606 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-19T>A single nucleotide variant Juvenile polyposis syndrome [RCV003762394] Chr18:51048667 [GRCh38]
Chr18:48575037 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1542A>G (p.Pro514=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585821] Chr18:51078350 [GRCh38]
Chr18:48604720 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1646A>C (p.Gln549Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585822] Chr18:51078454 [GRCh38]
Chr18:48604824 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-13T>C single nucleotide variant Juvenile polyposis syndrome [RCV003762481] Chr18:51067006 [GRCh38]
Chr18:48593376 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.43G>T (p.Ala15Ser) single nucleotide variant Juvenile polyposis syndrome [RCV003764360] Chr18:51047089 [GRCh38]
Chr18:48573459 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.889C>A (p.His297Asn) single nucleotide variant Juvenile polyposis syndrome [RCV003596273] Chr18:51058441 [GRCh38]
Chr18:48584811 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+13T>C single nucleotide variant Juvenile polyposis syndrome [RCV003764436] Chr18:51076789 [GRCh38]
Chr18:48603159 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.321T>C (p.Asn107=) single nucleotide variant Juvenile polyposis syndrome [RCV003597069] Chr18:51048757 [GRCh38]
Chr18:48575127 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1165T>C (p.Leu389=) single nucleotide variant Juvenile polyposis syndrome [RCV003855079] Chr18:51067044 [GRCh38]
Chr18:48593414 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.508C>T (p.Pro170Ser) single nucleotide variant Juvenile polyposis syndrome [RCV003840193] Chr18:51054834 [GRCh38]
Chr18:48581204 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.860dup (p.His287fs) duplication Juvenile polyposis syndrome [RCV003763278] Chr18:51058411..51058412 [GRCh38]
Chr18:48584781..48584782 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.363A>G (p.Leu121=) single nucleotide variant Juvenile polyposis syndrome [RCV003763286] Chr18:51048799 [GRCh38]
Chr18:48575169 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.700dup (p.Ser234fs) duplication Juvenile polyposis syndrome [RCV003763411] Chr18:51058156..51058157 [GRCh38]
Chr18:48584526..48584527 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.653C>G (p.Pro218Arg) single nucleotide variant Juvenile polyposis syndrome [RCV003763407] Chr18:51054979 [GRCh38]
Chr18:48581349 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.212G>A (p.Cys71Tyr) single nucleotide variant Juvenile polyposis syndrome [RCV003596265] Chr18:51047258 [GRCh38]
Chr18:48573628 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1564C>A (p.Pro522Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003596295] Chr18:51078372 [GRCh38]
Chr18:48604742 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1278del (p.His427fs) deletion Juvenile polyposis syndrome [RCV003596307] Chr18:51067156 [GRCh38]
Chr18:48593526 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.905-11C>T single nucleotide variant Juvenile polyposis syndrome [RCV003763521] Chr18:51059855 [GRCh38]
Chr18:48586225 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.455-7T>C single nucleotide variant Juvenile polyposis syndrome [RCV003596368] Chr18:51054774 [GRCh38]
Chr18:48581144 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.485A>G (p.Tyr162Cys) single nucleotide variant Juvenile polyposis syndrome [RCV003596921] Chr18:51054811 [GRCh38]
Chr18:48581181 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1398A>C (p.Ala466=) single nucleotide variant Juvenile polyposis syndrome [RCV003596982] Chr18:51076727 [GRCh38]
Chr18:48603097 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.613G>C (p.Glu205Gln) single nucleotide variant Juvenile polyposis syndrome [RCV003596969] Chr18:51054939 [GRCh38]
Chr18:48581309 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1139+9T>G single nucleotide variant Juvenile polyposis syndrome [RCV003597028] Chr18:51065615 [GRCh38]
Chr18:48591985 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.419G>C (p.Gly140Ala) single nucleotide variant Juvenile polyposis syndrome [RCV003597043] Chr18:51048855 [GRCh38]
Chr18:48575225 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.788A>G (p.Asn263Ser) single nucleotide variant Juvenile polyposis syndrome [RCV003597091] Chr18:51058340 [GRCh38]
Chr18:48584710 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.693C>A (p.Gly231=) single nucleotide variant Juvenile polyposis syndrome [RCV003762434]|not provided [RCV003885360] Chr18:51058150 [GRCh38]
Chr18:48584520 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.323A>G (p.Glu108Gly) single nucleotide variant Juvenile polyposis syndrome [RCV003762451] Chr18:51048759 [GRCh38]
Chr18:48575129 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.472_516del (p.Val158_Leu172del) deletion Juvenile polyposis syndrome [RCV003597192] Chr18:51054796..51054840 [GRCh38]
Chr18:48581166..48581210 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.250-1G>T single nucleotide variant Juvenile polyposis syndrome [RCV003762505] Chr18:51048685 [GRCh38]
Chr18:48575055 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.402A>C (p.Glu134Asp) single nucleotide variant Juvenile polyposis syndrome [RCV003762523] Chr18:51048838 [GRCh38]
Chr18:48575208 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.541A>C (p.Thr181Pro) single nucleotide variant Juvenile polyposis syndrome [RCV003762592] Chr18:51054867 [GRCh38]
Chr18:48581237 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.895_896del (p.Gly299fs) deletion Juvenile polyposis syndrome [RCV003762651] Chr18:51058447..51058448 [GRCh38]
Chr18:48584817..48584818 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.-10A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585808] Chr18:51047037 [GRCh38]
Chr18:48573407 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585809] Chr18:51047044 [GRCh38]
Chr18:48573414 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-1A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585810] Chr18:51047046 [GRCh38]
Chr18:48573416 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.577G>C (p.Glu193Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585813] Chr18:51054903 [GRCh38]
Chr18:48581273 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.887C>G (p.Pro296Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585815] Chr18:51058439 [GRCh38]
Chr18:48584809 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1047T>A (p.Thr349=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585817] Chr18:51065514 [GRCh38]
Chr18:48591884 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1166T>C (p.Leu389Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003585819] Chr18:51067045 [GRCh38]
Chr18:48593415 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1463C>T (p.Ala488Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558167]|Hereditary cancer-predisposing syndrome [RCV003585820] Chr18:51078271 [GRCh38]
Chr18:48604641 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+17_667+114del deletion Juvenile polyposis syndrome [RCV003596991] Chr18:51055010..51055107 [GRCh38]
Chr18:48581380..48581477 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.487G>A (p.Val163Met) single nucleotide variant Juvenile polyposis syndrome [RCV003597077] Chr18:51054813 [GRCh38]
Chr18:48581183 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.455-18G>C single nucleotide variant Juvenile polyposis syndrome [RCV003596357] Chr18:51054763 [GRCh38]
Chr18:48581133 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1287del (p.Tyr430fs) deletion Juvenile polyposis syndrome [RCV003762508] Chr18:51067166 [GRCh38]
Chr18:48593536 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.424+9A>G single nucleotide variant Juvenile polyposis syndrome [RCV003597163] Chr18:51048869 [GRCh38]
Chr18:48575239 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-12C>G single nucleotide variant Juvenile polyposis syndrome [RCV003596742] Chr18:51078244 [GRCh38]
Chr18:48604614 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1041T>C (p.Ile347=) single nucleotide variant Juvenile polyposis syndrome [RCV003596468] Chr18:51065508 [GRCh38]
Chr18:48591878 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1123G>A (p.Ala375Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003596861] Chr18:51065590 [GRCh38]
Chr18:48591960 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1049T>C (p.Val350Ala) single nucleotide variant Juvenile polyposis syndrome [RCV003596918] Chr18:51065516 [GRCh38]
Chr18:48591886 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1091T>C (p.Leu364Ser) single nucleotide variant Juvenile polyposis syndrome [RCV003596920] Chr18:51065558 [GRCh38]
Chr18:48591928 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.859C>A (p.His287Asn) single nucleotide variant Juvenile polyposis syndrome [RCV003596904] Chr18:51058411 [GRCh38]
Chr18:48584781 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+18T>A single nucleotide variant Juvenile polyposis syndrome [RCV003763305] Chr18:51076794 [GRCh38]
Chr18:48603164 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-25_1448-18del deletion Juvenile polyposis syndrome [RCV003763308] Chr18:51078231..51078238 [GRCh38]
Chr18:48604601..48604608 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.841C>G (p.Pro281Ala) single nucleotide variant Juvenile polyposis syndrome [RCV003763353] Chr18:51058393 [GRCh38]
Chr18:48584763 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.955+1G>A single nucleotide variant Juvenile polyposis syndrome [RCV003762335] Chr18:51059917 [GRCh38]
Chr18:48586287 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.89G>T (p.Gly30Val) single nucleotide variant Juvenile polyposis syndrome [RCV003597022] Chr18:51047135 [GRCh38]
Chr18:48573505 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1578A>C (p.Glu526Asp) single nucleotide variant Juvenile polyposis syndrome [RCV003596968] Chr18:51078386 [GRCh38]
Chr18:48604756 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.282_283del (p.Tyr95fs) deletion Juvenile polyposis syndrome [RCV003597039] Chr18:51048717..51048718 [GRCh38]
Chr18:48575087..48575088 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1118C>T (p.Thr373Ile) single nucleotide variant Juvenile polyposis syndrome [RCV003815784] Chr18:51065585 [GRCh38]
Chr18:48591955 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.371A>G (p.Asp124Gly) single nucleotide variant Juvenile polyposis syndrome [RCV003763372] Chr18:51048807 [GRCh38]
Chr18:48575177 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.956-17C>G single nucleotide variant Juvenile polyposis syndrome [RCV003595844] Chr18:51065406 [GRCh38]
Chr18:48591776 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.425A>G (p.Asp142Gly) single nucleotide variant Juvenile polyposis syndrome [RCV003597006] Chr18:51049295 [GRCh38]
Chr18:48575665 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.878C>A (p.Pro293His) single nucleotide variant Juvenile polyposis syndrome [RCV003763465] Chr18:51058430 [GRCh38]
Chr18:48584800 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.397T>C (p.Tyr133His) single nucleotide variant Juvenile polyposis syndrome [RCV003596303] Chr18:51048833 [GRCh38]
Chr18:48575203 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.472G>A (p.Val158Met) single nucleotide variant Juvenile polyposis syndrome [RCV003762437] Chr18:51054798 [GRCh38]
Chr18:48581168 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1307A>C (p.Lys436Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003762439] Chr18:51067186 [GRCh38]
Chr18:48593556 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-9C>A single nucleotide variant Juvenile polyposis syndrome [RCV003596358] Chr18:51067010 [GRCh38]
Chr18:48593380 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1448-17C>T single nucleotide variant Juvenile polyposis syndrome [RCV003762493] Chr18:51078239 [GRCh38]
Chr18:48604609 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.788-13C>G single nucleotide variant Juvenile polyposis syndrome [RCV003763564] Chr18:51058327 [GRCh38]
Chr18:48584697 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1284G>A (p.Lys428=) single nucleotide variant Juvenile polyposis syndrome [RCV003596426] Chr18:51067163 [GRCh38]
Chr18:48593533 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.250-19T>C single nucleotide variant Juvenile polyposis syndrome [RCV003764271] Chr18:51048667 [GRCh38]
Chr18:48575037 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.627C>G (p.Thr209=) single nucleotide variant Juvenile polyposis syndrome [RCV003596840] Chr18:51054953 [GRCh38]
Chr18:48581323 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1515T>C (p.Phe505=) single nucleotide variant Juvenile polyposis syndrome [RCV003762262] Chr18:51078323 [GRCh38]
Chr18:48604693 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.955+15A>C single nucleotide variant Juvenile polyposis syndrome [RCV003596888] Chr18:51059931 [GRCh38]
Chr18:48586301 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1413C>G (p.Gly471=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004558166]|Juvenile polyposis syndrome [RCV003595843] Chr18:51076742 [GRCh38]
Chr18:48603112 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.811A>G (p.Ser271Gly) single nucleotide variant Juvenile polyposis syndrome [RCV003855035] Chr18:51058363 [GRCh38]
Chr18:48584733 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.611C>G (p.Ser204Cys) single nucleotide variant Juvenile polyposis syndrome [RCV003762341] Chr18:51054937 [GRCh38]
Chr18:48581307 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.742C>G (p.Gln248Glu) single nucleotide variant Juvenile polyposis syndrome [RCV003762362]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004011670] Chr18:51058199 [GRCh38]
Chr18:48584569 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.632C>T (p.Thr211Ile) single nucleotide variant Juvenile polyposis syndrome [RCV003763473] Chr18:51054958 [GRCh38]
Chr18:48581328 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.162G>A (p.Leu54=) single nucleotide variant Juvenile polyposis syndrome [RCV003763502] Chr18:51047208 [GRCh38]
Chr18:48573578 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1145A>C (p.His382Pro) single nucleotide variant Juvenile polyposis syndrome [RCV003853419] Chr18:51067024 [GRCh38]
Chr18:48593394 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.259C>T (p.Arg87Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004559042]|Juvenile polyposis syndrome [RCV003872008]|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004573378] Chr18:51048695 [GRCh38]
Chr18:48575065 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1623T>C (p.His541=) single nucleotide variant Juvenile polyposis syndrome [RCV003820469] Chr18:51078431 [GRCh38]
Chr18:48604801 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1334G>A (p.Arg445Gln) single nucleotide variant Juvenile polyposis syndrome [RCV003853958] Chr18:51076663 [GRCh38]
Chr18:48603033 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.453T>C (p.Asn151=) single nucleotide variant Juvenile polyposis syndrome [RCV003853410]|SMAD4-related disorder [RCV003893509] Chr18:51049323 [GRCh38]
Chr18:48575693 [GRCh37]
Chr18:18q21.2		 likely benign|uncertain significance
NM_005359.6(SMAD4):c.1408C>A (p.Pro470Thr) single nucleotide variant Juvenile polyposis syndrome [RCV003858448] Chr18:51076737 [GRCh38]
Chr18:48603107 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1355del (p.Ala452fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004440247] Chr18:51076684 [GRCh38]
Chr18:48603054 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.803_804insCTAAGTGGTAGTAG (p.Trp268delinsCysTer) insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004442466] Chr18:51058354..51058355 [GRCh38]
Chr18:48584724..48584725 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1563_1567del (p.Pro522fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004442467] Chr18:51078371..51078375 [GRCh38]
Chr18:48604741..48604745 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.747dup (p.Gln250fs) duplication Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004442527] Chr18:51058203..51058204 [GRCh38]
Chr18:48584573..48584574 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1447+3_1447+4insGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAGGATG insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010170] Chr18:51076779..51076780 [GRCh38]
Chr18:48603149..48603150 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+4_1447+5insTTGGTGTTGATGACCTTCGTCGCTTATGCATACTCAG insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007889] Chr18:51076780..51076781 [GRCh38]
Chr18:48603150..48603151 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+2_1447+3insCTGTCAGCTGCTGCTGGAATTGGTGTTGATGACCTTCGTCGCTTATGCATACTC insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007900] Chr18:51076778..51076779 [GRCh38]
Chr18:48603148..48603149 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.905-7T>C single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007912] Chr18:51059859 [GRCh38]
Chr18:48586229 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.788-1G>C single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004439982] Chr18:51058339 [GRCh38]
Chr18:48584709 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1659A>C (p.Ter553Cys) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004440080] Chr18:51078467 [GRCh38]
Chr18:48604837 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.754G>T (p.Gly252Ter) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004442660] Chr18:51058211 [GRCh38]
Chr18:48584581 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007902] Chr18:51067190..51067191 [GRCh38]
Chr18:48593560..48593561 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.788-1G>A single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004440227] Chr18:51058339 [GRCh38]
Chr18:48584709 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.1309-2A>G single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004440419] Chr18:51076636 [GRCh38]
Chr18:48603006 [GRCh37]
Chr18:18q21.2		 likely pathogenic
NM_005359.6(SMAD4):c.479A>T (p.Asp160Val) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004009757] Chr18:51054805 [GRCh38]
Chr18:48581175 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.854del (p.Asn285fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004442735] Chr18:51058403 [GRCh38]
Chr18:48584773 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1295G>C (p.Ser432Thr) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010245] Chr18:51067174 [GRCh38]
Chr18:48593544 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.15T>C (p.Ser5=) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010014] Chr18:51047061 [GRCh38]
Chr18:48573431 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1309-13T>G single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010233] Chr18:51076625 [GRCh38]
Chr18:48602995 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.586dup (p.Ser196fs) duplication Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004440294] Chr18:51054911..51054912 [GRCh38]
Chr18:48581281..48581282 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGC insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004007839] Chr18:51067189..51067190 [GRCh38]
Chr18:48593559..48593560 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.830C>T (p.Thr277Ile) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004011773] Chr18:51058382 [GRCh38]
Chr18:48584752 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.593del (p.Pro198fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004437853] Chr18:51054916 [GRCh38]
Chr18:48581286 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.1139+278dup duplication SMAD4-related disorder [RCV003893756] Chr18:51065880..51065881 [GRCh38]
Chr18:48592250..48592251 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1639del (p.Asp547fs) deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004012170] Chr18:51078447 [GRCh38]
Chr18:48604817 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.524A>G (p.Glu175Gly) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004012188] Chr18:51054850 [GRCh38]
Chr18:48581220 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1540C>T (p.Pro514Ser) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010035] Chr18:51078348 [GRCh38]
Chr18:48604718 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1541C>T (p.Pro514Leu) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004010036] Chr18:51078349 [GRCh38]
Chr18:48604719 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.10:g.51076638del deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004440365] Chr18:51076637 [GRCh38]
Chr18:48603007 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.216T>C (p.Val72=) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004012717] Chr18:51047262 [GRCh38]
Chr18:48573632 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGC insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004015522] Chr18:51067190..51067191 [GRCh38]
Chr18:48593560..48593561 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.310C>G (p.Leu104Val) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004015120] Chr18:51048746 [GRCh38]
Chr18:48575116 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.421A>G (p.Ile141Val) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004016945] Chr18:51048857 [GRCh38]
Chr18:48575227 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.570A>G (p.Ala190=) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004012964] Chr18:51054896 [GRCh38]
Chr18:48581266 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.91G>C (p.Glu31Gln) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004015491] Chr18:51047137 [GRCh38]
Chr18:48573507 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.904+1_904+2insGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTAT insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004013234] Chr18:51058457..51058458 [GRCh38]
Chr18:48584827..48584828 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.556C>A (p.Pro186Thr) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004013359] Chr18:51054882 [GRCh38]
Chr18:48581252 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1140-2del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV004561261] Chr18:51067016 [GRCh38]
Chr18:48593386 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1151G>T (p.Gly384Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561262] Chr18:51067030 [GRCh38]
Chr18:48593400 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1245C>T (p.Asp415=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561265] Chr18:51067124 [GRCh38]
Chr18:48593494 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1265C>T (p.Pro422Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561267] Chr18:51067144 [GRCh38]
Chr18:48593514 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.130G>C (p.Val44Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561269] Chr18:51047176 [GRCh38]
Chr18:48573546 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1374A>G (p.Ala458=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561271] Chr18:51076703 [GRCh38]
Chr18:48603073 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1419A>T (p.Gly473=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561272] Chr18:51076748 [GRCh38]
Chr18:48603118 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+3A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561273] Chr18:51076779 [GRCh38]
Chr18:48603149 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1602G>A (p.Gln534=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561275] Chr18:51078410 [GRCh38]
Chr18:48604780 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.167C>A (p.Ser56Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561277] Chr18:51047213 [GRCh38]
Chr18:48573583 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.454+5G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561289] Chr18:51049329 [GRCh38]
Chr18:48575699 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.568G>A (p.Ala190Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561294] Chr18:51054894 [GRCh38]
Chr18:48581264 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.626C>A (p.Thr209Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561296] Chr18:51054952 [GRCh38]
Chr18:48581322 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.629G>C (p.Ser210Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561297] Chr18:51054955 [GRCh38]
Chr18:48581325 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.649A>G (p.Ile217Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561298] Chr18:51054975 [GRCh38]
Chr18:48581345 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.757T>A (p.Phe253Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561300] Chr18:51058214 [GRCh38]
Chr18:48584584 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.831A>G (p.Thr277=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561302] Chr18:51058383 [GRCh38]
Chr18:48584753 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.848A>C (p.His283Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561305] Chr18:51058400 [GRCh38]
Chr18:48584770 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.848A>T (p.His283Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561306] Chr18:51058400 [GRCh38]
Chr18:48584770 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.881T>C (p.Met294Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561308] Chr18:51058433 [GRCh38]
Chr18:48584803 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.920A>T (p.Glu307Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561310] Chr18:51059881 [GRCh38]
Chr18:48586251 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.982T>C (p.Tyr328His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561312] Chr18:51065449 [GRCh38]
Chr18:48591819 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1188T>C (p.Asp396=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561263] Chr18:51067067 [GRCh38]
Chr18:48593437 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1447+5G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561274] Chr18:51076781 [GRCh38]
Chr18:48603151 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.176C>T (p.Thr59Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561278] Chr18:51047222 [GRCh38]
Chr18:48573592 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.300G>T (p.Arg100Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561284] Chr18:51048736 [GRCh38]
Chr18:48575106 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.334_335del (p.His111_Val112insTer) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV004561285] Chr18:51048769..51048770 [GRCh38]
Chr18:48575139..48575140 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.801C>T (p.Thr267=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561301] Chr18:51058353 [GRCh38]
Chr18:48584723 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1040T>C (p.Ile347Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561257] Chr18:51065507 [GRCh38]
Chr18:48591877 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1045A>G (p.Thr349Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561258] Chr18:51065512 [GRCh38]
Chr18:48591882 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.110A>G (p.Lys37Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561260] Chr18:51047156 [GRCh38]
Chr18:48573526 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1287C>A (p.Ile429=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561268] Chr18:51067166 [GRCh38]
Chr18:48593536 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.163G>T (p.Asp55Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561276] Chr18:51047209 [GRCh38]
Chr18:48573579 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.204T>A (p.Pro68=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561279] Chr18:51047250 [GRCh38]
Chr18:48573620 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.249+3T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561281] Chr18:51047298 [GRCh38]
Chr18:48573668 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.278T>G (p.Val93Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561282] Chr18:51048714 [GRCh38]
Chr18:48575084 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.299G>A (p.Arg100Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561283] Chr18:51048735 [GRCh38]
Chr18:48575105 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.370G>A (p.Asp124Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561286] Chr18:51048806 [GRCh38]
Chr18:48575176 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.416C>G (p.Pro139Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561287] Chr18:51048852 [GRCh38]
Chr18:48575222 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.426T>C (p.Asp142=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561288] Chr18:51049296 [GRCh38]
Chr18:48575666 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.459A>G (p.Pro153=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561290] Chr18:51054785 [GRCh38]
Chr18:48581155 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.465T>A (p.Ser155Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561291] Chr18:51054791 [GRCh38]
Chr18:48581161 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.567T>A (p.Arg189=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561293] Chr18:51054893 [GRCh38]
Chr18:48581263 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.690_692dup (p.Gly231_Ser232insGly) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV004561299] Chr18:51058143..51058144 [GRCh38]
Chr18:48584513..48584514 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.840G>A (p.Leu280=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561304] Chr18:51058392 [GRCh38]
Chr18:48584762 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.881dup (p.Met294fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV004561307] Chr18:51058432..51058433 [GRCh38]
Chr18:48584802..48584803 [GRCh37]
Chr18:18q21.2		 pathogenic
NM_005359.6(SMAD4):c.955+5G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561311] Chr18:51059921 [GRCh38]
Chr18:48586291 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1657T>C (p.Ter553Arg) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004015535] Chr18:51078465 [GRCh38]
Chr18:48604835 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.667+2_667+3insCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAG insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004013864] Chr18:51054995..51054996 [GRCh38]
Chr18:48581365..48581366 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1444A>C (p.Ile482Leu) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004015748] Chr18:51076773 [GRCh38]
Chr18:48603143 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1014A>C (p.Thr338=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561255] Chr18:51065481 [GRCh38]
Chr18:48591851 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1029A>G (p.Ser343=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561256] Chr18:51065496 [GRCh38]
Chr18:48591866 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.1254T>A (p.Ala418=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561266] Chr18:51067133 [GRCh38]
Chr18:48593503 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.132A>C (p.Val44=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561270] Chr18:51047178 [GRCh38]
Chr18:48573548 [GRCh37]
Chr18:18q21.2		 likely benign
NM_005359.6(SMAD4):c.221T>C (p.Ile74Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV004561280] Chr18:51047267 [GRCh38]
Chr18:48573637 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGC insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004014755] Chr18:51067189..51067190 [GRCh38]
Chr18:48593559..48593560 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1447+6_1447+7insGTTG insertion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004013253] Chr18:51076782..51076783 [GRCh38]
Chr18:48603152..48603153 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.895G>C (p.Gly299Arg) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004013930] Chr18:51058447 [GRCh38]
Chr18:48584817 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.244C>G (p.Leu82Val) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004014130] Chr18:51047290 [GRCh38]
Chr18:48573660 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.-7del deletion Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004012893] Chr18:51047039 [GRCh38]
Chr18:48573409 [GRCh37]
Chr18:18q21.2		 uncertain significance
NC_000018.9:g.(?_48556583)_(48593567_?)del deletion Juvenile polyposis syndrome [RCV004579790] Chr18:48556583..48593567 [GRCh37] pathogenic
NC_000018.9:g.(?_48604616)_(48604847_?)dup duplication Juvenile polyposis syndrome [RCV004579793] Chr18:48604616..48604847 [GRCh37] likely benign
NC_000018.9:g.(?_48573290)_(48573685_?)dup duplication Juvenile polyposis syndrome [RCV004579794] Chr18:48573290..48573685 [GRCh37] likely benign
NC_000018.9:g.(?_48591773)_(48604837_?)dup duplication Juvenile polyposis syndrome [RCV004579795] Chr18:48591773..48604837 [GRCh37] uncertain significance
NC_000018.9:g.(?_48565515)_(48591839_?)del deletion Juvenile polyposis syndrome [RCV004579796] Chr18:48565515..48591839 [GRCh37] pathogenic
NC_000018.9:g.(?_48573290)_(48575704_?)del deletion Juvenile polyposis syndrome [RCV004579792] Chr18:48573290..48575704 [GRCh37] pathogenic
NM_005359.6(SMAD4):c.899A>T (p.His300Leu) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004573652] Chr18:51058451 [GRCh38]
Chr18:48584821 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.359A>T (p.Asp120Val) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004573653] Chr18:51048795 [GRCh38]
Chr18:48575165 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.1373C>T (p.Ala458Val) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004573651] Chr18:51076702 [GRCh38]
Chr18:48603072 [GRCh37]
Chr18:18q21.2		 uncertain significance
NM_005359.6(SMAD4):c.719T>G (p.Ile240Arg) single nucleotide variant Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome [RCV004573654] Chr18:51058176 [GRCh38]
Chr18:48584546 [GRCh37]
Chr18:18q21.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR483hsa-miR-483-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21112326
MIR483hsa-miR-483-3pOncomiRDBexternal_infoNANA21112326
MIR20Ahsa-miR-20a-5pMirtarbaseexternal_infoMicroarrayNon-Functional MTI (Weak)20940405
MIR224hsa-miR-224-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20118412
MIR18Ahsa-miR-18a-5pMirtarbaseexternal_infoImmunoblot//Luciferase reporter assay//Microarray/Functional MTI20940405
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//MFunctional MTI22507670
MIR146Ahsa-miR-146a-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21968601
MIR146Ahsa-miR-146a-5pOncomiRDBexternal_infoNANA22020746
MIR146Ahsa-miR-146a-5pOncomiRDBexternal_infoNANA20577838
MIR421hsa-miR-421OncomiRDBexternal_infoNANA21352803
MIR199A1hsa-miR-199a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22821565
MIR199A1hsa-miR-199a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22819820
MIR199A1hsa-miR-199a-5pOncomiRDBexternal_infoNANA22821565
MIR454hsa-miR-454-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23393589
MIR454hsa-miR-454-3pOncomiRDBexternal_infoNANA23393589
MIR17hsa-miR-17-5pMirtarbaseexternal_infoLuciferase reporter assay//MicroarrayNon-Functional MTI20940405
MIR130Ahsa-miR-130a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23393589
MIR130Ahsa-miR-130a-3pOncomiRDBexternal_infoNANA23393589
MIR92A2hsa-miR-92a-3pMirtarbaseexternal_infoMicroarrayNon-Functional MTI (Weak)20940405
MIR146Bhsa-miR-146b-5pOncomiRDBexternal_infoNANA21874046
MIR301Ahsa-miR-301a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23393589
MIR301Ahsa-miR-301a-3pOncomiRDBexternal_infoNANA23393589
MIR155hsa-miR-155-5pMirtarbaseexternal_infoWestern blotNon-Functional MTI21036908

Predicted Target Of
Summary Value
Count of predictions:6451
Count of miRNA genes:1331
Interacting mature miRNAs:1761
Transcripts:ENST00000342988, ENST00000398417, ENST00000452201, ENST00000585448, ENST00000586253, ENST00000588745, ENST00000588860, ENST00000589076, ENST00000589706, ENST00000589941, ENST00000590061, ENST00000590499, ENST00000591126, ENST00000591914, ENST00000592186, ENST00000592911, ENST00000593223
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
D18S1110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,610,146 - 48,610,436UniSTSGRCh37
Build 361846,864,144 - 46,864,434RGDNCBI36
Celera1845,466,929 - 45,467,219RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,465,655 - 45,465,947UniSTS
Marshfield Genetic Map1871.32RGD
Marshfield Genetic Map1871.32UniSTS
Genethon Genetic Map1871.3UniSTS
Whitehead-YAC Contig Map18 UniSTS
WI-11075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,557,407 - 48,557,576UniSTSGRCh37
Build 361846,811,405 - 46,811,574RGDNCBI36
Celera1845,414,191 - 45,414,360RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,412,751 - 45,412,920UniSTS
GeneMap99-GB4 RH Map18379.02UniSTS
Whitehead-RH Map18368.2UniSTS
NCBI RH Map18614.9UniSTS
RH75869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,604,832 - 48,605,056UniSTSGRCh37
Build 361846,858,830 - 46,859,054RGDNCBI36
Celera1845,461,615 - 45,461,839RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,460,341 - 45,460,565UniSTS
AF010230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,591,804 - 48,591,972UniSTSGRCh37
Build 361846,845,802 - 46,845,970RGDNCBI36
Celera1845,448,587 - 45,448,755RGD
HuRef1845,447,308 - 45,447,476UniSTS
D18S903E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,605,993 - 48,606,092UniSTSGRCh37
Build 361846,859,991 - 46,860,090RGDNCBI36
Celera1845,462,776 - 45,462,875RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,461,502 - 45,461,601UniSTS
SHGC-56739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,611,156 - 48,611,247UniSTSGRCh37
Build 361846,865,154 - 46,865,245RGDNCBI36
Celera1845,467,939 - 45,468,030RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,466,667 - 45,466,758UniSTS
TNG Radiation Hybrid Map1819359.0UniSTS
RH46461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,564,551 - 48,564,739UniSTSGRCh37
Build 361846,818,549 - 46,818,737RGDNCBI36
Celera1845,421,335 - 45,421,523RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,419,896 - 45,420,085UniSTS
GeneMap99-GB4 RH Map18358.68UniSTS
NCBI RH Map18605.9UniSTS
PMC86557P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,584,518 - 48,584,800UniSTSGRCh37
Build 361846,838,516 - 46,838,798RGDNCBI36
Celera1845,441,301 - 45,441,583RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,440,019 - 45,440,301UniSTS
MADH4_174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,604,917 - 48,605,726UniSTSGRCh37
Build 361846,858,915 - 46,859,724RGDNCBI36
Celera1845,461,700 - 45,462,509RGD
HuRef1845,460,426 - 45,461,235UniSTS
RH44980  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,586,637 - 48,586,737UniSTSGRCh37
Build 361846,840,635 - 46,840,735RGDNCBI36
Celera1845,443,420 - 45,443,520RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,442,140 - 45,442,240UniSTS
GeneMap99-GB4 RH Map18359.93UniSTS
NCBI RH Map18611.7UniSTS
RH66749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371848,608,041 - 48,608,203UniSTSGRCh37
Build 361846,862,039 - 46,862,201RGDNCBI36
Celera1845,464,824 - 45,464,986RGD
Cytogenetic Map18q21.1UniSTS
HuRef1845,463,550 - 45,463,712UniSTS
GeneMap99-GB4 RH Map18358.19UniSTS
NCBI RH Map18610.3UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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 2251 1681 1371 314 1198 161 4266 1769 1780 273 1369 1551 165 1 1182 2723 5 2
Low 183 1305 355 310 748 304 89 428 1954 146 90 58 10 22 65 1
Below cutoff 4 5 5 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB043547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC091551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU120224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM701399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ660374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF572431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF572432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF572433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000342988   ⟹   ENSP00000341551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,213 - 51,085,042 (+)Ensembl
Ensembl Acc Id: ENST00000398417   ⟹   ENSP00000381452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,029,614 - 51,085,045 (+)Ensembl
Ensembl Acc Id: ENST00000585448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,051,093 - 51,054,916 (+)Ensembl
Ensembl Acc Id: ENST00000586253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,077,251 - 51,078,870 (+)Ensembl
Ensembl Acc Id: ENST00000588745   ⟹   ENSP00000464901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,047,047 - 51,078,467 (+)Ensembl
Ensembl Acc Id: ENST00000588860   ⟹   ENSP00000465878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,028,528 - 51,085,017 (+)Ensembl
Ensembl Acc Id: ENST00000589076   ⟹   ENSP00000466934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,100 - 51,085,042 (+)Ensembl
Ensembl Acc Id: ENST00000589706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,047,179 - 51,049,565 (+)Ensembl
Ensembl Acc Id: ENST00000589941   ⟹   ENSP00000465874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,209 - 51,085,042 (+)Ensembl
Ensembl Acc Id: ENST00000590061   ⟹   ENSP00000464772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,213 - 51,085,042 (+)Ensembl
Ensembl Acc Id: ENST00000590499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,066,822 - 51,077,291 (+)Ensembl
Ensembl Acc Id: ENST00000591126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,052,326 - 51,079,777 (+)Ensembl
Ensembl Acc Id: ENST00000592186   ⟹   ENSP00000468611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,047,047 - 51,078,467 (+)Ensembl
Ensembl Acc Id: ENST00000592911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,597 - 51,058,154 (+)Ensembl
Ensembl Acc Id: ENST00000593223   ⟹   ENSP00000466118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,219 - 51,079,777 (+)Ensembl
Ensembl Acc Id: ENST00000611848   ⟹   ENSP00000478613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,046,920 - 51,079,474 (+)Ensembl
Ensembl Acc Id: ENST00000684953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,052,955 - 51,079,957 (+)Ensembl
Ensembl Acc Id: ENST00000685090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,058,511 - 51,079,769 (+)Ensembl
Ensembl Acc Id: ENST00000685232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,057,350 - 51,079,470 (+)Ensembl
Ensembl Acc Id: ENST00000688307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,054,839 - 51,066,362 (+)Ensembl
Ensembl Acc Id: ENST00000688574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,057,350 - 51,085,007 (+)Ensembl
Ensembl Acc Id: ENST00000688903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,057,244 - 51,066,216 (+)Ensembl
Ensembl Acc Id: ENST00000690892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,057,350 - 51,060,076 (+)Ensembl
Ensembl Acc Id: ENST00000691124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,062,986 - 51,079,627 (+)Ensembl
Ensembl Acc Id: ENST00000714260   ⟹   ENSP00000519541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,210 - 51,079,777 (+)Ensembl
Ensembl Acc Id: ENST00000714261   ⟹   ENSP00000519542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,210 - 51,080,083 (+)Ensembl
Ensembl Acc Id: ENST00000714262   ⟹   ENSP00000519543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,211 - 51,079,776 (+)Ensembl
Ensembl Acc Id: ENST00000714263   ⟹   ENSP00000519544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,211 - 51,079,776 (+)Ensembl
Ensembl Acc Id: ENST00000714264   ⟹   ENSP00000519545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,213 - 51,079,781 (+)Ensembl
Ensembl Acc Id: ENST00000714265   ⟹   ENSP00000519546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,213 - 51,085,042 (+)Ensembl
Ensembl Acc Id: ENST00000714266   ⟹   ENSP00000519547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,221 - 51,079,776 (+)Ensembl
Ensembl Acc Id: ENST00000714267   ⟹   ENSP00000519548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,221 - 51,079,777 (+)Ensembl
Ensembl Acc Id: ENST00000714268   ⟹   ENSP00000519549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,221 - 51,079,777 (+)Ensembl
Ensembl Acc Id: ENST00000714269   ⟹   ENSP00000519550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,222 - 51,079,781 (+)Ensembl
Ensembl Acc Id: ENST00000714270   ⟹   ENSP00000519551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,223 - 51,079,775 (+)Ensembl
Ensembl Acc Id: ENST00000714271   ⟹   ENSP00000519552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,223 - 51,080,365 (+)Ensembl
Ensembl Acc Id: ENST00000714272   ⟹   ENSP00000519553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,224 - 51,079,777 (+)Ensembl
Ensembl Acc Id: ENST00000714273   ⟹   ENSP00000519554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,030,260 - 51,080,364 (+)Ensembl
Ensembl Acc Id: ENST00000714274   ⟹   ENSP00000519555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1851,047,047 - 51,079,761 (+)Ensembl
RefSeq Acc Id: NM_001407041   ⟹   NP_001393970
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,030,213 - 51,085,042 (+)NCBI
T2T-CHM13v2.01851,231,926 - 51,286,759 (+)NCBI
RefSeq Acc Id: NM_001407042   ⟹   NP_001393971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,030,213 - 51,085,042 (+)NCBI
T2T-CHM13v2.01851,231,926 - 51,286,759 (+)NCBI
RefSeq Acc Id: NM_001407043   ⟹   NP_001393972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,030,213 - 51,065,745 (+)NCBI
T2T-CHM13v2.01851,231,926 - 51,267,457 (+)NCBI
RefSeq Acc Id: NM_005359   ⟹   NP_005350
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,030,213 - 51,085,042 (+)NCBI
GRCh371848,556,583 - 48,611,412 (+)ENTREZGENE
GRCh371848,556,583 - 48,611,412 (+)NCBI
Build 361846,810,611 - 46,860,145 (+)NCBI Archive
HuRef1845,411,927 - 45,466,923 (+)ENTREZGENE
CHM1_11848,551,997 - 48,606,836 (+)NCBI
T2T-CHM13v2.01851,231,926 - 51,286,759 (+)NCBI
Sequence:
RefSeq Acc Id: NR_176264
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,030,213 - 51,065,745 (+)NCBI
T2T-CHM13v2.01851,231,926 - 51,267,457 (+)NCBI
RefSeq Acc Id: NR_176265
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,030,213 - 51,085,042 (+)NCBI
T2T-CHM13v2.01851,231,926 - 51,286,759 (+)NCBI
RefSeq Acc Id: NP_005350   ⟸   NM_005359
- Peptide Label: isoform a
- UniProtKB: A8K405 (UniProtKB/Swiss-Prot),   Q13485 (UniProtKB/Swiss-Prot),   A0A024R274 (UniProtKB/TrEMBL),   K7ELK2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000381452   ⟸   ENST00000398417
Ensembl Acc Id: ENSP00000478613   ⟸   ENST00000611848
Ensembl Acc Id: ENSP00000465878   ⟸   ENST00000588860
Ensembl Acc Id: ENSP00000464901   ⟸   ENST00000588745
Ensembl Acc Id: ENSP00000466934   ⟸   ENST00000589076
Ensembl Acc Id: ENSP00000465874   ⟸   ENST00000589941
Ensembl Acc Id: ENSP00000464772   ⟸   ENST00000590061
Ensembl Acc Id: ENSP00000468611   ⟸   ENST00000592186
Ensembl Acc Id: ENSP00000341551   ⟸   ENST00000342988
Ensembl Acc Id: ENSP00000466118   ⟸   ENST00000593223
RefSeq Acc Id: NP_001393971   ⟸   NM_001407042
- Peptide Label: isoform a
- UniProtKB: Q13485 (UniProtKB/Swiss-Prot),   A8K405 (UniProtKB/Swiss-Prot),   K7ELK2 (UniProtKB/TrEMBL),   A0A024R274 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393970   ⟸   NM_001407041
- Peptide Label: isoform a
- UniProtKB: Q13485 (UniProtKB/Swiss-Prot),   A8K405 (UniProtKB/Swiss-Prot),   K7ELK2 (UniProtKB/TrEMBL),   A0A024R274 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001393972   ⟸   NM_001407043
- Peptide Label: isoform b
- UniProtKB: Q9BYG6 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000519551   ⟸   ENST00000714270
Ensembl Acc Id: ENSP00000519550   ⟸   ENST00000714269
Ensembl Acc Id: ENSP00000519546   ⟸   ENST00000714265
Ensembl Acc Id: ENSP00000519553   ⟸   ENST00000714272
Ensembl Acc Id: ENSP00000519543   ⟸   ENST00000714262
Ensembl Acc Id: ENSP00000519542   ⟸   ENST00000714261
Ensembl Acc Id: ENSP00000519544   ⟸   ENST00000714263
Ensembl Acc Id: ENSP00000519541   ⟸   ENST00000714260
Ensembl Acc Id: ENSP00000519547   ⟸   ENST00000714266
Ensembl Acc Id: ENSP00000519552   ⟸   ENST00000714271
Ensembl Acc Id: ENSP00000519554   ⟸   ENST00000714273
Ensembl Acc Id: ENSP00000519549   ⟸   ENST00000714268
Ensembl Acc Id: ENSP00000519555   ⟸   ENST00000714274
Ensembl Acc Id: ENSP00000519545   ⟸   ENST00000714264
Ensembl Acc Id: ENSP00000519548   ⟸   ENST00000714267
Protein Domains
MH1   MH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13485-F1-model_v2 AlphaFold Q13485 1-552 view protein structure

Promoters
RGD ID:6795004
Promoter ID:HG_KWN:28029
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005359,   UC002LFA.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361846,810,399 - 46,810,899 (+)MPROMDB
RGD ID:6795005
Promoter ID:HG_KWN:28031
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC002LFB.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361846,831,726 - 46,834,367 (+)MPROMDB
RGD ID:7237351
Promoter ID:EPDNEW_H24421
Type:initiation region
Name:SMAD4_3
Description:SMAD family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24423  EPDNEW_H24422  EPDNEW_H24424  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,048,697 - 51,048,757EPDNEW
RGD ID:7237355
Promoter ID:EPDNEW_H24422
Type:initiation region
Name:SMAD4_1
Description:SMAD family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24421  EPDNEW_H24423  EPDNEW_H24424  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,049,326 - 51,049,386EPDNEW
RGD ID:7237353
Promoter ID:EPDNEW_H24423
Type:initiation region
Name:SMAD4_4
Description:SMAD family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24421  EPDNEW_H24422  EPDNEW_H24424  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,052,269 - 51,052,329EPDNEW
RGD ID:7237359
Promoter ID:EPDNEW_H24424
Type:initiation region
Name:SMAD4_2
Description:SMAD family member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24421  EPDNEW_H24423  EPDNEW_H24422  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381851,058,148 - 51,058,208EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6770 AgrOrtholog
COSMIC SMAD4 COSMIC
Ensembl Genes ENSG00000141646 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342988 ENTREZGENE
  ENST00000342988.8 UniProtKB/Swiss-Prot
  ENST00000398417.6 UniProtKB/Swiss-Prot
  ENST00000588745.5 UniProtKB/TrEMBL
  ENST00000588860.5 UniProtKB/TrEMBL
  ENST00000588860.6 UniProtKB/Swiss-Prot
  ENST00000589076 ENTREZGENE
  ENST00000589076.5 UniProtKB/TrEMBL
  ENST00000589076.6 UniProtKB/Swiss-Prot
  ENST00000589941.1 UniProtKB/TrEMBL
  ENST00000589941.2 UniProtKB/Swiss-Prot
  ENST00000590061 ENTREZGENE
  ENST00000590061.1 UniProtKB/TrEMBL
  ENST00000590061.2 UniProtKB/Swiss-Prot
  ENST00000592186 ENTREZGENE
  ENST00000592186.5 UniProtKB/TrEMBL
  ENST00000593223.2 UniProtKB/TrEMBL
  ENST00000611848.2 UniProtKB/TrEMBL
Gene3D-CATH 2.60.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000141646 GTEx
HGNC ID HGNC:6770 ENTREZGENE
Human Proteome Map SMAD4 Human Proteome Map
InterPro Dwarfin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAD_homology1_Dwarfin-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAD_homology_MH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_dom_Dwarfin-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_MH1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4089 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 4089 ENTREZGENE
OMIM 600993 OMIM
PANTHER MOTHERS AGAINST DECAPENTAPLEGIC HOMOLOG 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13703 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30527 PharmGKB
PROSITE MH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DWA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DWB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R274 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WUF3_HUMAN UniProtKB/TrEMBL
  A8K405 ENTREZGENE
  K7EIJ2_HUMAN UniProtKB/TrEMBL
  K7EIU8_HUMAN UniProtKB/TrEMBL
  K7EL15_HUMAN UniProtKB/TrEMBL
  K7EL18_HUMAN UniProtKB/TrEMBL
  K7ELK2 ENTREZGENE, UniProtKB/TrEMBL
  K7ENG1_HUMAN UniProtKB/TrEMBL
  K7ES96_HUMAN UniProtKB/TrEMBL
  Q13485 ENTREZGENE
  Q9BYG6 ENTREZGENE, UniProtKB/TrEMBL
  SMAD4_HUMAN UniProtKB/Swiss-Prot
  U6BGT8_HUMAN UniProtKB/TrEMBL
  U6BKH8_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0A0S2Z4B2 UniProtKB/TrEMBL
  A8K405 UniProtKB/Swiss-Prot