CHEK2 (checkpoint kinase 2) - 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 Behavioral & Substance Use Disorder 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 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
Advanced Search (OLGA)
Gene: CHEK2 (checkpoint kinase 2) Homo sapiens
Analyze
Symbol: CHEK2
Name: checkpoint kinase 2
RGD ID: 732861
HGNC Page HGNC:16627
Description: Enables enzyme binding activity; protein homodimerization activity; and protein serine/threonine kinase activity. Involved in several processes, including G2/M transition of mitotic cell cycle; intracellular signal transduction; and protein stabilization. Acts upstream of or within signal transduction in response to DNA damage. Located in Golgi apparatus; PML body; and chromosome, telomeric region. Implicated in several diseases, including Li-Fraumeni syndrome 2; breast cancer (multiple); colorectal cancer; osteosarcoma; and prostate cancer. Biomarker of congestive heart failure; embryonal carcinoma; and seminoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDS1; cds1 homolog; checkpoint-like protein CHK2; CHK2; CHK2 checkpoint homolog; hCds1; HuCds1; LFS2; PP1425; RAD53; serine/threonine-protein kinase Chk2; TPDS4; truncated checkpoint kinase 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CHEK2P1   CHEK2P2   CHEK2P3   CHEK2P4   CHEK2P5   CHEK2P7  
Allele / Splice: See ClinVar data
Candidate Gene For: MAMTS47_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382228,687,743 - 28,741,834 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2228,687,743 - 28,742,422 (-)Ensemblhg38GRCh38
GRCh372229,083,731 - 29,137,822 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,413,731 - 27,467,822 (-)NCBIBuild 36Build 36hg18NCBI36
Build 342227,408,284 - 27,462,376NCBI
Celera2212,883,692 - 12,937,801 (-)NCBICelera
Cytogenetic Map22q12.1ENTREZGENE
HuRef2212,048,435 - 12,103,008 (-)NCBIHuRef
CHM1_12229,042,794 - 29,096,883 (-)NCBICHM1_1
T2T-CHM13v2.02229,149,178 - 29,203,469 (-)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View
adrenocortical carcinoma  (IAGP)
bone osteosarcoma  (IAGP)
breast cancer  (IAGP)
Breast Cancer, Familial  (IAGP)
breast carcinoma  (IAGP)
Breast Neoplasms  (EXP,IAGP)
colon cancer  (IAGP)
colon carcinoma  (IAGP)
Colonic Neoplasms  (IAGP)
colorectal cancer  (IAGP)
Colorectal Cancer 10  (IAGP)
Colorectal Neoplasms  (EXP)
Congenital Heart Defects, Multiple Types, 3  (IAGP)
congestive heart failure  (IEP)
diffuse large B-cell lymphoma  (IAGP)
Disease Progression  (EXP)
embryonal carcinoma  (IEP)
endometrial carcinoma  (IAGP)
Endometrioid Carcinomas  (IAGP)
Familial Prostate Cancer  (EXP,IAGP)
female breast cancer  (IAGP)
gastrointestinal carcinoma  (IAGP)
hereditary breast ovarian cancer syndrome  (IAGP)
Hereditary Neoplastic Syndromes  (IAGP)
hypomyelinating leukodystrophy 7  (IAGP)
Kidney Neoplasms  (ISO)
leiomyosarcoma  (IAGP)
Li-Fraumeni syndrome  (EXP,IAGP)
Li-Fraumeni syndrome 1  (IAGP)
Li-Fraumeni syndrome 2  (EXP,IAGP)
lung cancer  (IAGP)
lung carcinoma  (IAGP)
Lung Neoplasms  (EXP)
Lynch syndrome  (IAGP)
Lynch syndrome 1  (IAGP)
male breast cancer  (IAGP)
Male Breast Neoplasms  (EXP)
malignant astrocytoma  (IAGP)
melanoma  (IAGP)
Metabolic Syndrome  (ISO)
NATURAL KILLER CELL ENTEROPATHY  (IAGP)
nephroblastoma  (IAGP)
neuroblastoma  (EXP)
non-Hodgkin lymphoma  (EXP)
osteosarcoma  (EXP,IAGP)
ovarian cancer  (IAGP)
ovarian carcinoma  (IAGP)
Ovarian Neoplasms  (IAGP)
pancreatic carcinoma  (IAGP)
Primary Ovarian Failure  (IAGP)
primary ovarian insufficiency  (IAGP)
prostate cancer  (IAGP)
Prostate Cancer, Somatic  (IAGP)
Prostatic Neoplasms  (EXP)
sarcoma  (IAGP)
seminoma  (IEP)
squamous cell neoplasm  (EXP)
stomach cancer  (IAGP)
Stomach Neoplasms  (EXP)
Triple Negative Breast Neoplasms  (IAGP)
urinary bladder cancer  (IAGP,ISO)
Uterine Cervical Neoplasms  (IEP)
uterine corpus cancer  (IAGP)
vestibular schwannomatosis  (IAGP)
Vulvar Neoplasms  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1S)-bornane-2,3-dione  (EXP)
(S)-naringenin  (EXP)
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-1,8-naphthalimide  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-methoxy-TEMPO  (EXP)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-fluorouracil  (EXP)
6-(cyclohexylmethoxy)-5-nitrosopyrimidine-2,4-diamine  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrolein  (EXP)
acrylamide  (ISO)
Aflatoxin B2 alpha  (EXP)
Aflatoxin G1  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphibole asbestos  (EXP)
anthocyanin  (EXP)
antirheumatic drug  (EXP)
aphidicolin  (EXP,ISO)
aristolochic acid A  (EXP)
aristolochic acids  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP,ISO)
artesunate  (EXP)
atrazine  (ISO)
auraptene  (EXP)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP,ISO)
berberine  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (EXP)
Brevetoxin B  (EXP)
busulfan  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP)
capsaicin  (EXP)
casticin  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
clofarabine  (EXP)
cobalt atom  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
CX-5461  (EXP)
DDE  (EXP)
decabromodiphenyl ether  (EXP)
Decamethylcyclopentasiloxane  (EXP)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
dichlorvos  (ISO)
dieldrin  (ISO)
diethyl sulfate  (EXP)
digitoxin  (EXP)
dihydroxyacetone  (EXP)
dimethyl sulfoxide  (EXP)
dimethylarsinic acid  (ISO)
dioscin  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
etoposide  (EXP,ISO)
fenofibrate  (ISO)
fenvalerate  (ISO)
fisetin  (EXP)
flavanones  (EXP)
floxuridine  (EXP)
fluoranthene  (ISO)
flutamide  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (ISO)
furan  (ISO)
furosemide  (ISO)
genistein  (EXP)
gingerol  (EXP)
glyphosate  (ISO)
Goe 6976  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
GW 4064  (EXP)
hellebrigenin  (EXP)
hexamethylcyclotrisiloxane  (EXP)
hydrogen peroxide  (EXP)
hydroxyurea  (EXP)
imidacloprid  (ISO)
indole-3-methanol  (ISO)
irinotecan  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
isoflavones  (EXP)
isoflurane  (ISO)
isosilybin A  (EXP)
kaempferol  (ISO)
kojic acid  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lead(0)  (EXP)
leptomycin B  (EXP)
levonorgestrel  (EXP)
Licochalcone B  (EXP)
lovastatin  (ISO)
melatonin  (EXP,ISO)
melphalan  (EXP)
metformin  (EXP)
methimazole  (ISO)
methoxsalen  (EXP)
methoxychlor  (EXP)
methyl isocyanate  (ISO)
methylmercury chloride  (ISO)
methylseleninic acid  (EXP)
mitomycin C  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
monocrotaline  (ISO)
morin  (EXP)
myristicin  (EXP)
N-acetyl-L-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
nicotine  (EXP)
Nonidet P-40  (EXP)
NORCANTHARIDIN  (EXP)
O-methyleugenol  (ISO)
octamethylcyclotetrasiloxane  (EXP)
oroxylin A  (EXP)
oxaliplatin  (EXP,ISO)
p-tert-Amylphenol  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP)
pentobarbital  (ISO)
phenytoin  (ISO)
PhIP  (EXP)
pifithrin-alpha hydrobromide  (EXP)
platinum  (EXP)
platinum(0)  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
promethazine  (ISO)
quercetin  (EXP,ISO)
quinoline yellow  (EXP)
resveratrol  (EXP)
rifampicin  (ISO)
ruxolitinib  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
selinexor  (EXP)
silibinin  (EXP)
silicon dioxide  (EXP)
silver(1+) nitrate  (EXP)
sodium arsenite  (EXP,ISO)
sterigmatocystin  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
T-2 toxin  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thiabendazole  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tungsten  (ISO)
urethane  (EXP)
usnic acid  (EXP)
valproic acid  (EXP)
vincristine  (EXP)
wortmannin  (EXP)
yttrium chloride  (ISO)
zearalenone  (ISO)
zidovudine  (EXP)
zinc pyrithione  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
autophagosome assembly  (IDA,IMP)
cell division  (IEA)
cellular response to bisphenol A  (IEA,ISO)
cellular response to gamma radiation  (IEA)
cellular response to stress  (IDA)
cellular response to xenobiotic stimulus  (IEA,ISO)
DNA damage checkpoint signaling  (IEA,ISO,TAS)
DNA damage response  (IDA,IEA,IMP,TAS)
DNA damage response, signal transduction by p53 class mediator  (IEA,TAS)
DNA repair  (IEA)
double-strand break repair  (IMP,TAS)
G2/M transition of mitotic cell cycle  (IMP)
intrinsic apoptotic signaling pathway in response to DNA damage  (IDA,IEA,IMP)
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (IEA)
mitotic DNA damage checkpoint signaling  (IBA)
mitotic intra-S DNA damage checkpoint signaling  (IMP)
mitotic spindle assembly  (IMP)
negative regulation of DNA damage checkpoint  (IEA,ISO)
peptidyl-serine phosphorylation  (ISO)
positive regulation of anoikis  (IEA,ISO)
positive regulation of autophagosome assembly  (IDA)
positive regulation of DNA-templated transcription  (IDA)
positive regulation of protein phosphorylation  (ISO)
protein autophosphorylation  (IDA)
protein catabolic process  (IMP)
protein K63-linked ubiquitination  (IDA)
protein phosphorylation  (IDA,ISO)
protein stabilization  (IDA)
regulation of autophagosome assembly  (IDA)
regulation of DNA-templated transcription  (IDA)
regulation of protein catabolic process  (IMP)
regulation of signal transduction by p53 class mediator  (TAS)
replicative senescence  (NAS)
response to gamma radiation  (IEA)
response to glycoside  (IEA,ISO)
response to oxidative stress  (IDA)
response to starvation  (IDA)
signal transduction in response to DNA damage  (IDA,IEA,IMP)
thymocyte apoptotic process  (IEA)

Cellular Component
chromosome, telomeric region  (IDA)
cytoplasm  (IBA)
Golgi apparatus  (IDA)
nucleoplasm  (IDA,IEA,TAS)
nucleus  (IBA,IEA)
PML body  (IDA,IEA)

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

Human Phenotype
Abdominal pain  (IAGP)
Abnormal circulating creatine concentration  (IAGP)
Abnormal circulating lactate dehydrogenase concentration  (IAGP)
Abnormal fallopian tube morphology  (IAGP)
Abnormal femoral metaphysis morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal tibial metaphysis morphology  (IAGP)
Acute lymphoblastic leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Adrenocortical carcinoma  (IAGP)
Amaurosis fugax  (IAGP)
Anxiety  (IAGP)
Astrocytoma  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Basal cell carcinoma  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Breast carcinoma  (IAGP)
Cardiac diverticulum  (IAGP)
Central primitive neuroectodermal tumor  (IAGP)
Choriocarcinoma  (IAGP)
Choroid plexus carcinoma  (IAGP)
Colon cancer  (IAGP)
Colorectal polyposis  (IAGP)
Constipation  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Disturbed sensory perception  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dyskinesia  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Endometrial carcinoma  (IAGP)
Ependymoma  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal carcinoma  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glioblastoma multiforme  (IAGP)
Glioma  (IAGP)
Hallucinations  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hodgkin lymphoma  (IAGP)
Hypertonia  (IAGP)
Hypotonia  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased intracranial pressure  (IAGP)
Irritability  (IAGP)
Joint swelling  (IAGP)
Leiomyosarcoma  (IAGP)
Leukemia  (IAGP)
Lymphoma  (IAGP)
Malabsorption  (IAGP)
Medulloblastoma  (IAGP)
Melanoma  (IAGP)
Memory impairment  (IAGP)
Meningioma  (IAGP)
Migraine  (IAGP)
Myelodysplasia  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm  (IAGP)
Neoplasm of head and neck  (IAGP)
Neoplasm of the breast  (IAGP)
Neoplasm of the central nervous system  (IAGP)
Neoplasm of the colon  (IAGP)
Neoplasm of the gastrointestinal tract  (IAGP)
Neoplasm of the larynx  (IAGP)
Neoplasm of the lung  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the rectum  (IAGP)
Neoplasm of the skeletal system  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Nephroblastoma  (IAGP)
Neuroblastoma  (IAGP)
Non-Hodgkin lymphoma  (IAGP)
Osteolysis  (IAGP)
Osteosarcoma  (IAGP)
Ovarian carcinoma  (IAGP)
Ovarian neoplasm  (IAGP)
Pain  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Paresthesia  (IAGP)
Pathologic fracture  (IAGP)
Pituitary adenoma  (IAGP)
Premature ovarian insufficiency  (IAGP)
Primary peritoneal carcinoma  (IAGP)
Prostate cancer  (IAGP)
Renal neoplasm  (IAGP)
Retinoblastoma  (IAGP)
Rhabdomyosarcoma  (IAGP)
Sarcoma  (IAGP)
Seizure  (IAGP)
Stomach cancer  (IAGP)
Testicular neoplasm  (IAGP)
Thyroid carcinoma  (IAGP)
Typified by somatic mosaicism  (IAGP)
Urinary tract neoplasm  (IAGP)
Uterine neoplasm  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Chk2 tumour suppressor protein in human spermatogenesis and testicular germ-cell tumours. Bartkova J, etal., Oncogene. 2001 Sep 13;20(41):5897-902.
2. A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. Cybulski C, etal., J Med Genet. 2006 Nov;43(11):863-6.
3. Mutations in CHEK2 associated with prostate cancer risk. Dong X, etal., Am J Hum Genet 2003 Feb;72(2):270-80. Epub 2003 Jan 17.
4. Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk. Einarsdottir K, etal., Hum Mol Genet. 2007 Jan 15;16(2):154-64. Epub 2006 Dec 12.
5. BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases. Falchetti M, etal., Breast Cancer Res Treat. 2007 Jul 28;.
6. Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing. Girard E, etal., Int J Cancer. 2019 Apr 15;144(8):1962-1974. doi: 10.1002/ijc.31921. Epub 2018 Nov 13.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Modes of p53 regulation. Kruse JP and Gu W, Cell. 2009 May 15;137(4):609-22. doi: 10.1016/j.cell.2009.04.050.
9. Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. Laitman Y, etal., Isr Med Assoc J. 2007 Nov;9(11):791-6.
10. The complexity of p53 stabilization and activation. Lavin MF and Gueven N, Cell Death Differ. 2006 Jun;13(6):941-50.
11. Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. Meijers-Heijboer H, etal., Nat Genet. 2002 May;31(1):55-9. Epub 2002 Apr 22.
12. Telomere attrition and Chk2 activation in human heart failure. Oh H, etal., Proc Natl Acad Sci U S A. 2003 Apr 29;100(9):5378-83. Epub 2003 Apr 17.
13. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
14. Paeonia lactiflora Pall inhibits bladder cancer growth involving phosphorylation of Chk2 in vitro and in vivo. Ou TT, etal., J Ethnopharmacol. 2011 Apr 26;135(1):162-72. doi: 10.1016/j.jep.2011.03.011. Epub 2011 Mar 17.
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
17. Analysis of CHK2 in vulval neoplasia. Reddy A, etal., Br J Cancer. 2002 Mar 4;86(5):756-60.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. CHEK2 variants predispose to benign, borderline and low-grade invasive ovarian tumors. Szymanska-Pasternak J, etal., Gynecol Oncol. 2006 Sep;102(3):429-31. Epub 2006 Jul 10.
22. Premature cardiac senescence in DahlS.Z-Lepr(fa)/Lepr(fa) rats as a new animal model of metabolic syndrome. Takahashi K, etal., Nagoya J Med Sci. 2014 Feb;76(1-2):35-49.
23. Cellular distribution of cell cycle-related molecules in the renal tubules of rats treated with renal carcinogens for 28 days: relationship between cell cycle aberration and carcinogenesis. Taniai E, etal., Arch Toxicol. 2012 Sep;86(9):1453-64. doi: 10.1007/s00204-012-0829-z. Epub 2012 Mar 13.
24. Genetic and epigenetic analysis of CHEK2 in sporadic breast, colon, and ovarian cancers. Williams LH, etal., Clin Cancer Res. 2006 Dec 1;12(23):6967-72.
25. Changes in gene expression induced by chemoradiation in advanced cervical carcinoma: a microarray study of RTOG C-0128. Zempolich K, etal., Gynecol Oncol. 2008 May;109(2):275-9. Epub 2008 Mar 4.
26. Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer. Zlowocka E, etal., Int J Cancer. 2008 Feb 1;122(3):583-6.
Additional References at PubMed
PMID:9278512   PMID:9407135   PMID:9450932   PMID:9836640   PMID:9857181   PMID:9889122   PMID:10097108   PMID:10435585   PMID:10557092   PMID:10591208   PMID:10617473   PMID:10673500  
PMID:10673501   PMID:10710310   PMID:10713094   PMID:10724175   PMID:10744722   PMID:10801407   PMID:10973490   PMID:11053450   PMID:11073977   PMID:11172707   PMID:11298456   PMID:11333986  
PMID:11390408   PMID:11438675   PMID:11461078   PMID:11551930   PMID:11715017   PMID:11719428   PMID:11741546   PMID:11746983   PMID:11751432   PMID:11793476   PMID:11821419   PMID:11901158  
PMID:11984555   PMID:12024051   PMID:12049740   PMID:12049741   PMID:12052256   PMID:12094328   PMID:12111733   PMID:12242661   PMID:12386164   PMID:12393693   PMID:12402044   PMID:12438214  
PMID:12441400   PMID:12447371   PMID:12454775   PMID:12475977   PMID:12477932   PMID:12493754   PMID:12529183   PMID:12548019   PMID:12551934   PMID:12556502   PMID:12607004   PMID:12610780  
PMID:12654916   PMID:12654917   PMID:12676583   PMID:12690581   PMID:12711320   PMID:12717439   PMID:12759351   PMID:12805407   PMID:12810724   PMID:12855706   PMID:12897801   PMID:12909615  
PMID:12917215   PMID:14507240   PMID:14514889   PMID:14559997   PMID:14568168   PMID:14612911   PMID:14623252   PMID:14624239   PMID:14648717   PMID:14678969   PMID:14681223   PMID:14701743  
PMID:14716295   PMID:14744935   PMID:14970869   PMID:14997059   PMID:15001356   PMID:15024084   PMID:15044452   PMID:15048074   PMID:15057041   PMID:15064416   PMID:15087378   PMID:15095295  
PMID:15107832   PMID:15122511   PMID:15149599   PMID:15192702   PMID:15239132   PMID:15342622   PMID:15361830   PMID:15361851   PMID:15361853   PMID:15380617   PMID:15385111   PMID:15461802  
PMID:15466005   PMID:15467464   PMID:15472904   PMID:15488637   PMID:15489334   PMID:15492928   PMID:15535844   PMID:15601819   PMID:15618221   PMID:15647386   PMID:15649950   PMID:15659650  
PMID:15668230   PMID:15694385   PMID:15700044   PMID:15790808   PMID:15803363   PMID:15803365   PMID:15810020   PMID:15818573   PMID:15852425   PMID:15862297   PMID:15876876   PMID:15933716  
PMID:15942682   PMID:15964795   PMID:15980987   PMID:15987456   PMID:16043347   PMID:16078115   PMID:16163388   PMID:16239104   PMID:16257342   PMID:16311512   PMID:16317088   PMID:16337852  
PMID:16341674   PMID:16414312   PMID:16437383   PMID:16452051   PMID:16477038   PMID:16481012   PMID:16492927   PMID:16539695   PMID:16540636   PMID:16574953   PMID:16596250   PMID:16671833  
PMID:16705183   PMID:16732333   PMID:16741947   PMID:16758118   PMID:16790090   PMID:16794575   PMID:16798742   PMID:16816021   PMID:16830057   PMID:16835227   PMID:16835864   PMID:16858628  
PMID:16880452   PMID:16883537   PMID:16897426   PMID:16905549   PMID:16914568   PMID:16936775   PMID:16940182   PMID:16941491   PMID:16943424   PMID:16983346   PMID:16998498   PMID:16998506  
PMID:17010071   PMID:17026620   PMID:17030982   PMID:17035231   PMID:17040931   PMID:17074762   PMID:17101782   PMID:17106448   PMID:17113724   PMID:17132159   PMID:17132695   PMID:17157788  
PMID:17164383   PMID:17169815   PMID:17171639   PMID:17178848   PMID:17214356   PMID:17250914   PMID:17317627   PMID:17333333   PMID:17333477   PMID:17341484   PMID:17372254   PMID:17380128  
PMID:17380889   PMID:17409144   PMID:17409195   PMID:17428320   PMID:17428325   PMID:17464182   PMID:17517688   PMID:17525332   PMID:17544403   PMID:17634426   PMID:17663721   PMID:17671118  
PMID:17684142   PMID:17694537   PMID:17698850   PMID:17705858   PMID:17715138   PMID:17721994   PMID:17876702   PMID:18004398   PMID:18024013   PMID:18058223   PMID:18086781   PMID:18086786  
PMID:18162465   PMID:18167186   PMID:18172190   PMID:18175216   PMID:18178638   PMID:18239682   PMID:18253122   PMID:18270339   PMID:18281249   PMID:18297428   PMID:18317453   PMID:18321553  
PMID:18381420   PMID:18381943   PMID:18415014   PMID:18480045   PMID:18482988   PMID:18484200   PMID:18538787   PMID:18557994   PMID:18566216   PMID:18566483   PMID:18571837   PMID:18622427  
PMID:18644861   PMID:18667510   PMID:18676774   PMID:18706089   PMID:18725978   PMID:18759107   PMID:18797466   PMID:18802408   PMID:18804494   PMID:18812180   PMID:18833288   PMID:18834326  
PMID:18930998   PMID:18948271   PMID:18950845   PMID:18955500   PMID:18957425   PMID:18971944   PMID:18996005   PMID:19020308   PMID:19021634   PMID:19030985   PMID:19062161   PMID:19064572  
PMID:19116388   PMID:19124502   PMID:19124506   PMID:19151762   PMID:19164952   PMID:19176998   PMID:19177012   PMID:19223857   PMID:19265784   PMID:19275588   PMID:19289404   PMID:19322201  
PMID:19338682   PMID:19338683   PMID:19362748   PMID:19372713   PMID:19375317   PMID:19399639   PMID:19401704   PMID:19451272   PMID:19453842   PMID:19473886   PMID:19480937   PMID:19536092  
PMID:19548527   PMID:19556897   PMID:19597488   PMID:19609724   PMID:19615254   PMID:19656415   PMID:19714462   PMID:19741151   PMID:19763819   PMID:19768534   PMID:19772467   PMID:19782031  
PMID:19789190   PMID:19798429   PMID:19839522   PMID:19840931   PMID:19863560   PMID:19876921   PMID:19881958   PMID:19922265   PMID:19996108   PMID:20010693   PMID:20023412   PMID:20023427  
PMID:20080130   PMID:20126263   PMID:20159774   PMID:20200249   PMID:20204303   PMID:20306497   PMID:20360068   PMID:20364141   PMID:20417869   PMID:20434834   PMID:20442702   PMID:20453000  
PMID:20462940   PMID:20472656   PMID:20496165   PMID:20548946   PMID:20581449   PMID:20599567   PMID:20643596   PMID:20644561   PMID:20658728   PMID:20668524   PMID:20713355   PMID:20722467  
PMID:20729852   PMID:20731661   PMID:20875877   PMID:21034966   PMID:21070773   PMID:21118956   PMID:21156285   PMID:21184685   PMID:21244692   PMID:21317874   PMID:21356067   PMID:21466675  
PMID:21562711   PMID:21614566   PMID:21618645   PMID:21701879   PMID:21744992   PMID:21765476   PMID:21772273   PMID:21787115   PMID:21807500   PMID:21832049   PMID:21873635   PMID:21874023  
PMID:21876083   PMID:21907711   PMID:21924579   PMID:21934670   PMID:21945852   PMID:21956126   PMID:21988832   PMID:22046132   PMID:22058216   PMID:22058428   PMID:22071692   PMID:22072393  
PMID:22114986   PMID:22158418   PMID:22159226   PMID:22160829   PMID:22170151   PMID:22201027   PMID:22211259   PMID:22266820   PMID:22294770   PMID:22355270   PMID:22419737   PMID:22420423  
PMID:22496453   PMID:22521562   PMID:22586065   PMID:22658458   PMID:22747683   PMID:22770119   PMID:22799331   PMID:22808196   PMID:22811390   PMID:22851694   PMID:22862163   PMID:22893124  
PMID:22901170   PMID:22946335   PMID:22960999   PMID:22994785   PMID:23073808   PMID:23107771   PMID:23109433   PMID:23109706   PMID:23150219   PMID:23178491   PMID:23269272   PMID:23296741  
PMID:23329222   PMID:23333640   PMID:23415889   PMID:23449389   PMID:23535729   PMID:23602568   PMID:23690919   PMID:23713947   PMID:23803109   PMID:23806170   PMID:23821772   PMID:23969480  
PMID:24002546   PMID:24021642   PMID:24065469   PMID:24390236   PMID:24415413   PMID:24480460   PMID:24498068   PMID:24532427   PMID:24550317   PMID:24557336   PMID:24599715   PMID:24657486  
PMID:24662822   PMID:24764296   PMID:24798733   PMID:24825908   PMID:24853623   PMID:24879340   PMID:24880342   PMID:24918820   PMID:24976383   PMID:24986639   PMID:24998580   PMID:25086665  
PMID:25129146   PMID:25241763   PMID:25355026   PMID:25361978   PMID:25404613   PMID:25414026   PMID:25425972   PMID:25449779   PMID:25483076   PMID:25531207   PMID:25583358   PMID:25609649  
PMID:25619829   PMID:25629968   PMID:25640309   PMID:25749521   PMID:25773391   PMID:25792597   PMID:25835597   PMID:25842825   PMID:25850293   PMID:25872745   PMID:25884806   PMID:25958056  
PMID:25962492   PMID:26025911   PMID:26054341   PMID:26061604   PMID:26083025   PMID:26083323   PMID:26084796   PMID:26167880   PMID:26186194   PMID:26344197   PMID:26424751   PMID:26447757  
PMID:26483394   PMID:26496610   PMID:26506619   PMID:26553136   PMID:26573794   PMID:26577449   PMID:26751770   PMID:26831064   PMID:26991782   PMID:27039729   PMID:27269948   PMID:27438145  
PMID:27442652   PMID:27453043   PMID:27464310   PMID:27484185   PMID:27510020   PMID:27512067   PMID:27595995   PMID:27632928   PMID:27711073   PMID:27716909   PMID:27751358   PMID:27792460  
PMID:27801830   PMID:27838786   PMID:27964702   PMID:28027003   PMID:28087741   PMID:28094252   PMID:28319113   PMID:28360097   PMID:28373435   PMID:28418444   PMID:28430840   PMID:28498365  
PMID:28514442   PMID:28539821   PMID:28581483   PMID:28608266   PMID:28733865   PMID:28779002   PMID:28808232   PMID:28874143   PMID:29067458   PMID:29082250   PMID:29356917   PMID:29479983  
PMID:29486482   PMID:29507620   PMID:29520813   PMID:29599191   PMID:29658237   PMID:29761796   PMID:29785007   PMID:29804637   PMID:29844126   PMID:29879026   PMID:29902706   PMID:29909568  
PMID:30254210   PMID:30269267   PMID:30613976   PMID:30633282   PMID:30672594   PMID:30676620   PMID:30695561   PMID:30753320   PMID:30769778   PMID:30771428   PMID:30858171   PMID:30902968  
PMID:31050813   PMID:31091453   PMID:31206626   PMID:31220302   PMID:31296309   PMID:31349801   PMID:31398194   PMID:31409080   PMID:31416392   PMID:31506803   PMID:31808637   PMID:31845505  
PMID:31911943   PMID:31967672   PMID:31993860   PMID:32001251   PMID:32187724   PMID:32217071   PMID:32220941   PMID:32317175   PMID:32383162   PMID:32441531   PMID:32451744   PMID:32531112  
PMID:32531196   PMID:32541902   PMID:32694731   PMID:32707033   PMID:32805687   PMID:32906215   PMID:32988887   PMID:32993749   PMID:32996020   PMID:33016929   PMID:33030641   PMID:33322746  
PMID:33355621   PMID:33545068   PMID:33607997   PMID:33690219   PMID:33692755   PMID:33762357   PMID:33863812   PMID:33901880   PMID:33910274   PMID:33919281   PMID:33961781   PMID:33986034  
PMID:34113003   PMID:34285278   PMID:34322652   PMID:34449592   PMID:34499690   PMID:34549727   PMID:34591612   PMID:34591877   PMID:34622392   PMID:34688844   PMID:34902667   PMID:34903604  
PMID:35020107   PMID:35181726   PMID:35256754   PMID:35256949   PMID:35271311   PMID:35314380   PMID:35509820   PMID:35643632   PMID:35732801   PMID:35831314   PMID:35999268   PMID:36360192  
PMID:36368126   PMID:36398662   PMID:36468172   PMID:36623243   PMID:36653541   PMID:36688959   PMID:36736316   PMID:36919124   PMID:36949040   PMID:37161532   PMID:37219487   PMID:37258811  
PMID:37449874   PMID:37515473   PMID:37536919   PMID:37549632   PMID:37592023   PMID:37725924   PMID:37728466   PMID:37794589   PMID:37827155   PMID:37839337   PMID:37943659   PMID:37945898  
PMID:38039548   PMID:38039887   PMID:38047473   PMID:38061684   PMID:38081888   PMID:38091153   PMID:38279823   PMID:38332730   PMID:38362852   PMID:38367672   PMID:38378842   PMID:38554551  
PMID:38828701   PMID:38855188   PMID:39009827   PMID:39146382   PMID:39478560   PMID:40440438  


Genomics

Comparative Map Data
CHEK2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382228,687,743 - 28,741,834 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2228,687,743 - 28,742,422 (-)Ensemblhg38GRCh38
GRCh372229,083,731 - 29,137,822 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,413,731 - 27,467,822 (-)NCBIBuild 36Build 36hg18NCBI36
Build 342227,408,284 - 27,462,376NCBI
Celera2212,883,692 - 12,937,801 (-)NCBICelera
Cytogenetic Map22q12.1ENTREZGENE
HuRef2212,048,435 - 12,103,008 (-)NCBIHuRef
CHM1_12229,042,794 - 29,096,883 (-)NCBICHM1_1
T2T-CHM13v2.02229,149,178 - 29,203,469 (-)NCBIT2T-CHM13v2.0
Chek2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395110,987,668 - 111,022,006 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5110,987,845 - 111,022,011 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm385110,839,800 - 110,874,140 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5110,839,979 - 110,874,145 (+)Ensemblmm10GRCm38
MGSCv375111,269,036 - 111,303,152 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv365111,080,319 - 111,114,435 (+)NCBIMGSCv36mm8
Celera5107,972,108 - 108,006,794 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map553.73NCBI
Chek2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81251,448,838 - 51,481,159 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl1251,449,140 - 51,480,667 (-)EnsemblGRCr8
mRatBN7.21245,788,823 - 45,821,382 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1245,788,827 - 45,821,286 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx1246,965,158 - 46,996,598 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01247,570,878 - 47,602,332 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01246,631,400 - 46,662,854 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.01251,845,574 - 51,878,098 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1251,845,796 - 51,877,624 (-)Ensemblrn6Rnor6.0
Rnor_5.01253,583,932 - 53,616,450 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.41245,933,900 - 45,965,427 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera1247,348,969 - 47,380,486 (-)NCBICelera
RGSC_v3.11245,797,764 - 45,829,292 (-)NCBI
Cytogenetic Map12q16NCBI
Chek2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554552,969,270 - 3,003,173 (-)Ensembl
ChiLan1.0NW_0049554552,969,113 - 3,008,004 (-)NCBIChiLan1.0ChiLan1.0
CHEK2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22338,686,176 - 38,740,325 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12241,385,261 - 41,439,422 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0229,757,038 - 9,811,171 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12227,455,226 - 27,512,555 (-)NCBIPanPan1.1PanPan1.1panPan2
CHEK2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12622,052,256 - 22,145,675 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2621,427,961 - 22,240,624 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2621,923,947 - 22,017,275 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02622,425,372 - 22,519,047 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2622,426,963 - 22,476,743 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12622,135,806 - 22,229,383 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02622,399,429 - 22,492,792 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02622,461,722 - 22,555,609 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Chek2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118113,022,347 - 113,064,864 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366572,805,959 - 2,848,180 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366572,805,947 - 2,848,180 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHEK2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1445,929,715 - 45,967,290 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.11445,699,833 - 45,967,350 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CHEK2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11911,567,529 - 11,621,180 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1911,567,528 - 11,604,792 (-)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_023666045114,532,627 - 114,585,653 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chek2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247475,035,200 - 5,070,332 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046247475,035,045 - 5,072,555 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in CHEK2
3859 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007194.4(CHEK2):c.526G>A (p.Gly176Arg) single nucleotide variant Familial cancer of breast [RCV000687272]|Hereditary cancer-predisposing syndrome [RCV000561314] Chr22:28725043 [GRCh38]
Chr22:29121031 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer) microsatellite CHEK2-related cancer predisposition [RCV005357563]|Familial cancer of breast [RCV000549448]|Hereditary cancer-predisposing syndrome [RCV000568941]|Malignant tumor of breast [RCV001356374] Chr22:28734499..28734503 [GRCh38]
Chr22:29130487..29130491 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.534A>G (p.Gly178=) single nucleotide variant Familial cancer of breast [RCV000636016]|Hereditary cancer-predisposing syndrome [RCV000563310] Chr22:28725035 [GRCh38]
Chr22:29121023 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.974del (p.Lys325fs) deletion Familial cancer of breast [RCV003607304]|Hereditary cancer-predisposing syndrome [RCV000563323] Chr22:28699872 [GRCh38]
Chr22:29095860 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.866A>T (p.Lys289Ile) single nucleotide variant CHEK2-related cancer predisposition [RCV005027667]|Hereditary cancer-predisposing syndrome [RCV000565052] Chr22:28703547 [GRCh38]
Chr22:29099535 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.462C>G (p.Asn154Lys) single nucleotide variant Familial cancer of breast [RCV001066693]|Hereditary cancer-predisposing syndrome [RCV000565060]|Malignant tumor of breast [RCV001357483]|not provided [RCV000589429] Chr22:28725107 [GRCh38]
Chr22:29121095 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1400T>G (p.Leu467Trp) single nucleotide variant CHEK2-related cancer predisposition [RCV005414506]|Familial cancer of breast [RCV000549012]|Hereditary cancer-predisposing syndrome [RCV002395340] Chr22:28694093 [GRCh38]
Chr22:29090081 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.793-4A>G single nucleotide variant Familial cancer of breast [RCV001403242]|Hereditary cancer-predisposing syndrome [RCV002420404] Chr22:28710063 [GRCh38]
Chr22:29106051 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter) single nucleotide variant Familial cancer of breast [RCV001851498]|Hereditary cancer-predisposing syndrome [RCV000571653]|not provided [RCV000518920] Chr22:28703561 [GRCh38]
Chr22:29099549 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.414A>G (p.Thr138=) single nucleotide variant Familial cancer of breast [RCV001494420]|Hereditary cancer-predisposing syndrome [RCV000565115] Chr22:28725273 [GRCh38]
Chr22:29121261 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.315T>A (p.Asn105Lys) single nucleotide variant Familial cancer of breast [RCV000556591]|Hereditary cancer-predisposing syndrome [RCV000572483] Chr22:28734407 [GRCh38]
Chr22:29130395 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.560C>A (p.Ser187Tyr) single nucleotide variant Familial cancer of breast [RCV000550776]|Hereditary cancer-predisposing syndrome [RCV001024321]|not provided [RCV001584260]|not specified [RCV003320472] Chr22:28725009 [GRCh38]
Chr22:29120997 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1259+2del deletion Familial cancer of breast [RCV000551387] Chr22:28695708 [GRCh38]
Chr22:29091696 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.457A>G (p.Lys153Glu) single nucleotide variant Familial cancer of breast [RCV003607307]|Hereditary cancer-predisposing syndrome [RCV000561717]|not provided [RCV003325494] Chr22:28725112 [GRCh38]
Chr22:29121100 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.590A>T (p.Lys197Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563898] Chr22:28724979 [GRCh38]
Chr22:29120967 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.338A>C (p.Tyr113Ser) single nucleotide variant Familial cancer of breast [RCV001235734]|Hereditary cancer-predisposing syndrome [RCV000565272] Chr22:28725349 [GRCh38]
Chr22:29121337 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.386T>C (p.Leu129Pro) single nucleotide variant Familial cancer of breast [RCV003607306]|Hereditary cancer-predisposing syndrome [RCV000561899] Chr22:28725301 [GRCh38]
Chr22:29121289 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.661A>C (p.Ile221Leu) single nucleotide variant Familial cancer of breast [RCV000553824] Chr22:28719417 [GRCh38]
Chr22:29115405 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1406T>C (p.Val469Ala) single nucleotide variant CHEK2-related disorder [RCV004527628]|Familial cancer of breast [RCV000524869]|Hereditary cancer-predisposing syndrome [RCV000580881]|not provided [RCV000523765] Chr22:28694087 [GRCh38]
Chr22:29090075 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.823G>C (p.Glu275Gln) single nucleotide variant Familial cancer of breast [RCV000635826]|Hereditary cancer-predisposing syndrome [RCV000567765]|not provided [RCV003114694] Chr22:28710029 [GRCh38]
Chr22:29106017 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1200G>C (p.Gly400=) single nucleotide variant Familial cancer of breast [RCV000557281] Chr22:28695769 [GRCh38]
Chr22:29091757 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.957G>A (p.Leu319=) single nucleotide variant Familial cancer of breast [RCV003500557]|Hereditary cancer-predisposing syndrome [RCV000562233] Chr22:28699889 [GRCh38]
Chr22:29095877 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.728G>A (p.Cys243Tyr) single nucleotide variant Familial cancer of breast [RCV000559854] Chr22:28711973 [GRCh38]
Chr22:29107961 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.307T>A (p.Phe103Ile) single nucleotide variant Familial cancer of breast [RCV005091346]|Hereditary cancer-predisposing syndrome [RCV000562510] Chr22:28734415 [GRCh38]
Chr22:29130403 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+3A>G single nucleotide variant Familial cancer of breast [RCV000814139]|Hereditary cancer-predisposing syndrome [RCV000564553]|not provided [RCV003237932] Chr22:28710003 [GRCh38]
Chr22:29105991 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1065G>A (p.Leu355=) single nucleotide variant Familial cancer of breast [RCV000544612]|Hereditary cancer-predisposing syndrome [RCV000567762]|not provided [RCV001653893] Chr22:28696931 [GRCh38]
Chr22:29092919 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1000G>C (p.Ala334Pro) single nucleotide variant Breast and/or ovarian cancer [RCV003492088]|Familial cancer of breast [RCV002525145]|Hereditary cancer-predisposing syndrome [RCV000777176]|not provided [RCV000521044] Chr22:28699846 [GRCh38]
Chr22:29095834 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.524T>C (p.Val175Ala) single nucleotide variant Familial cancer of breast [RCV001060488]|Hereditary breast ovarian cancer syndrome [RCV004764789]|Hereditary cancer-predisposing syndrome [RCV000563108]|not provided [RCV002060394] Chr22:28725045 [GRCh38]
Chr22:29121033 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.452G>A (p.Gly151Asp) single nucleotide variant Familial cancer of breast [RCV000635861]|Hereditary cancer-predisposing syndrome [RCV000567773] Chr22:28725117 [GRCh38]
Chr22:29121105 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.280G>T (p.Ala94Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568091] Chr22:28734442 [GRCh38]
Chr22:29130430 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.991A>G (p.Met331Val) single nucleotide variant CHEK2-related cancer predisposition [RCV005357685]|Familial cancer of breast [RCV003607321]|Hereditary cancer-predisposing syndrome [RCV000568243] Chr22:28699855 [GRCh38]
Chr22:29095843 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1259+5G>A single nucleotide variant Familial cancer of breast [RCV001316769]|Hereditary cancer-predisposing syndrome [RCV000564314] Chr22:28695705 [GRCh38]
Chr22:29091693 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1272T>C (p.Tyr424=) single nucleotide variant Familial cancer of breast [RCV001448847]|Hereditary cancer-predisposing syndrome [RCV000566533] Chr22:28695230 [GRCh38]
Chr22:29091218 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1445G>A (p.Arg482Lys) single nucleotide variant Familial cancer of breast [RCV000549784]|Hereditary cancer-predisposing syndrome [RCV004609430]|not provided [RCV003159130] Chr22:28694048 [GRCh38]
Chr22:29090036 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.84C>T (p.Ser28=) single nucleotide variant Familial cancer of breast [RCV000550252]|Hereditary cancer-predisposing syndrome [RCV001017920] Chr22:28734638 [GRCh38]
Chr22:29130626 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.366del (p.Glu122fs) deletion Familial cancer of breast [RCV000550472]|Hereditary cancer-predisposing syndrome [RCV001524435] Chr22:28725321 [GRCh38]
Chr22:29121309 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.624T>A (p.Asp208Glu) single nucleotide variant Familial cancer of breast [RCV000552930] Chr22:28719454 [GRCh38]
Chr22:29115442 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs) deletion Familial cancer of breast [RCV000553258] Chr22:28695203..28695204 [GRCh38]
Chr22:29091191..29091192 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1315C>G (p.Gln439Glu) single nucleotide variant CHEK2-related cancer predisposition [RCV003991030]|Familial cancer of breast [RCV000554013]|Hereditary cancer-predisposing syndrome [RCV001805157] Chr22:28695187 [GRCh38]
Chr22:29091175 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1008+1G>T single nucleotide variant Familial cancer of breast [RCV000556065]|Hereditary cancer-predisposing syndrome [RCV000570557] Chr22:28699837 [GRCh38]
Chr22:29095825 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1368del (p.Glu457fs) deletion Hereditary cancer-predisposing syndrome [RCV000567283] Chr22:28695134 [GRCh38]
Chr22:29091122 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28687891)_(28696993_?)del deletion Familial cancer of breast [RCV000529833] Chr22:28687891..28696993 [GRCh38]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1387G>T (p.Val463Phe) single nucleotide variant Familial cancer of breast [RCV000560471] Chr22:28694106 [GRCh38]
Chr22:29090094 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter) single nucleotide variant Familial cancer of breast [RCV000700074]|Hereditary cancer-predisposing syndrome [RCV000565297] Chr22:28725040 [GRCh38]
Chr22:29121028 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1374A>C (p.Lys458Asn) single nucleotide variant Familial cancer of breast [RCV003607305]|Hereditary cancer-predisposing syndrome [RCV000565418]|not provided [RCV004760601] Chr22:28695128 [GRCh38]
Chr22:29091116 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.685_686delinsAT (p.Gly229Ile) indel Hereditary cancer-predisposing syndrome [RCV000568979] Chr22:28712015..28712016 [GRCh38]
Chr22:29108003..29108004 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+5G>A single nucleotide variant CHEK2-related cancer predisposition [RCV004776439]|Familial cancer of breast [RCV001221575]|Hereditary cancer-predisposing syndrome [RCV000562595] Chr22:28703500 [GRCh38]
Chr22:29099488 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.269C>T (p.Pro90Leu) single nucleotide variant Familial cancer of breast [RCV000813192]|Hereditary cancer-predisposing syndrome [RCV000562986]|not provided [RCV004760612] Chr22:28734453 [GRCh38]
Chr22:29130441 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.563A>G (p.Glu188Gly) single nucleotide variant Familial cancer of breast [RCV000527060]|Hereditary cancer-predisposing syndrome [RCV000562997] Chr22:28725006 [GRCh38]
Chr22:29120994 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.87A>G (p.Gln29=) single nucleotide variant Familial cancer of breast [RCV000978906]|Hereditary cancer-predisposing syndrome [RCV000567579] Chr22:28734635 [GRCh38]
Chr22:29130623 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1098T>G (p.Ile366Met) single nucleotide variant Familial cancer of breast [RCV000819093]|Hereditary cancer-predisposing syndrome [RCV000569158] Chr22:28695871 [GRCh38]
Chr22:29091859 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1588G>A (p.Ala530Thr) single nucleotide variant Familial cancer of breast [RCV000692487]|Hereditary cancer-predisposing syndrome [RCV000563374]|Hereditary nonpolyposis colon cancer [RCV005367420]|not provided [RCV002259352] Chr22:28687941 [GRCh38]
Chr22:29083929 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
CHEK2, 1-BP DEL, 1100C deletion Li-Fraumeni syndrome 2 [RCV000005932]|Breast cancer, susceptibility to [RCV000005933]|Prostate cancer, susceptibility to [RCV000005934]|Breast and colorectal cancer, susceptibility to [RCV000005935] Chr22:22q12.1 pathogenic|risk factor
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV000210131]|Breast and/or ovarian cancer [RCV001797993]|CHEK2-related cancer predisposition [RCV000005936]|CHEK2-related cancer predisposition [RCV005025010]|CHEK2-related disorder [RCV004528085]|Familial cancer of breast [RCV000144596]|Familial cancer of breast [RCV005406726]|Familial cancer of breast [RCV005406727]|Gastrointestinal carcinoma [RCV000626718]|Hereditary cancer-predisposing syndrome [RCV000116018]|Malignant tumor of breast [RCV001358111]|Predisposition to cancer [RCV002254675]|Prostate cancer [RCV003447470]|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL [RCV003333685]|not provided [RCV000212410]|not specified [RCV000120555] Chr22:28725099 [GRCh38]
Chr22:28725099..28725100 [GRCh38]
Chr22:29121087 [GRCh37]
Chr22:29121087..29121088 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|risk factor|established risk allele|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) single nucleotide variant Breast and/or ovarian cancer [RCV003149565]|CHEK2-related cancer predisposition [RCV000005940]|Familial cancer of breast [RCV000197612]|Gastric cancer [RCV003162212]|Hereditary cancer-predisposing syndrome [RCV000116016]|Li-Fraumeni syndrome 1 [RCV003224854]|Li-Fraumeni syndrome [RCV000587420]|Malignant tumor of breast [RCV001358124]|not provided [RCV000505730]|not specified [RCV000120554] Chr22:28725254 [GRCh38]
Chr22:29121242 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_007194.4(CHEK2):c.1425del (p.Phe475fs) deletion CHEK2-related cancer predisposition [RCV000005941]|Hereditary cancer-predisposing syndrome [RCV002390093] Chr22:28694068 [GRCh38]
Chr22:29090056 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) single nucleotide variant Bone osteosarcoma [RCV000005942]|Breast and/or ovarian cancer [RCV001797994]|Familial cancer of breast [RCV000196893]|Hereditary breast ovarian cancer syndrome [RCV002225260]|Hereditary cancer-predisposing syndrome [RCV000132520]|Malignant tumor of breast [RCV001355309]|not provided [RCV000513573]|not specified [RCV000120551] Chr22:28734468 [GRCh38]
Chr22:29130456 [GRCh37]
Chr22:22q12.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|other|not provided
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) single nucleotide variant Bone osteosarcoma [RCV000005943] Chr22:28734673 [GRCh38]
Chr22:29130661 [GRCh37]
Chr22:22q12.1		 pathogenic|other
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) single nucleotide variant Familial cancer of breast [RCV000206384]|Hereditary breast ovarian cancer syndrome [RCV004760321]|Hereditary cancer-predisposing syndrome [RCV000116025]|Malignant tumor of breast [RCV001354132]|Prostate cancer [RCV003333686]|not provided [RCV000212427]|not specified [RCV000780186] Chr22:28725030 [GRCh38]
Chr22:29121018 [GRCh37]
Chr22:22q12.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) single nucleotide variant CHEK2-related cancer predisposition [RCV005357082]|CHEK2-related disorder [RCV004737137]|Familial cancer of breast [RCV000196466]|Hereditary breast ovarian cancer syndrome [RCV005089184]|Hereditary cancer-predisposing syndrome [RCV000164479]|Prostate cancer, somatic [RCV000005945]|not provided [RCV000216866]|not specified [RCV001193084] Chr22:28725028 [GRCh38]
Chr22:29121016 [GRCh37]
Chr22:22q12.1		 pathogenic|benign|uncertain significance|other
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) single nucleotide variant Colorectal cancer [RCV002288467]|Familial cancer of breast [RCV000635628]|Hereditary cancer-predisposing syndrome [RCV000166320]|Prostate cancer [RCV003333688]|not provided [RCV000657605] Chr22:28711986 [GRCh38]
Chr22:29107974 [GRCh37]
Chr22:22q12.1		 pathogenic|other
nsv513775 deletion TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE [RCV003333690] Chr22:22q12.1 pathogenic|risk factor
CHEK2, IVS2DS, G-A, +1 single nucleotide variant Cancer of multiple types, susceptibility to [RCV000005952]|Prostate cancer, susceptibility to [RCV000005951] Chr22:22q12.1 risk factor
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV000210180]|Breast and/or ovarian cancer [RCV003492287]|Breast cancer, susceptibility to [RCV000005953]|Breast neoplasm [RCV000388223]|CHEK2-related cancer predisposition [RCV005025012]|CHEK2-related cancer predisposition [RCV005414444]|CHEK2-related cancer risk [RCV001449813]|CHEK2-related disorder [RCV004532295]|Familial cancer of breast [RCV000197718]|Familial cancer of breast [RCV000515286]|Hereditary breast ovarian cancer syndrome [RCV000586482]|Hereditary cancer-predisposing syndrome [RCV000115994]|Inherited breast cancer and ovarian cancer [RCV004691717]|Malignant tumor of breast [RCV001354412]|TUMOR PREDISPOSITION SYNDROME 4, BREAST [RCV003333691]|not provided [RCV000212459] Chr22:28695219 [GRCh38]
Chr22:29091207 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|risk factor|established risk allele|likely risk allele|conflicting interpretations of pathogenicity|uncertain significance|low penetrance
NM_007194.4(CHEK2):c.1163_1164dup (p.Thr389fs) duplication Familial cancer of breast [RCV000543962]|Hereditary cancer-predisposing syndrome [RCV000583942] Chr22:28695804..28695805 [GRCh38]
Chr22:29091792..29091793 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.469A>G (p.Ile157Val) single nucleotide variant Familial cancer of breast [RCV000544695] Chr22:28725100 [GRCh38]
Chr22:29121088 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1260-11C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000774330] Chr22:28695253 [GRCh38]
Chr22:29091241 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083730)_(29121356_29130390)dup duplication not specified [RCV001290638] Chr22:29083730..29121356 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.412A>C (p.Thr138Pro) single nucleotide variant not specified [RCV003320519] Chr22:28725275 [GRCh38]
Chr22:29121263 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.862A>T (p.Ile288Phe) single nucleotide variant Familial cancer of breast [RCV000552330]|Hereditary cancer-predisposing syndrome [RCV001018098]|not provided [RCV002282209] Chr22:28703551 [GRCh38]
Chr22:29099539 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1107T>G (p.Phe369Leu) single nucleotide variant Familial cancer of breast [RCV000553644]|Hereditary cancer-predisposing syndrome [RCV002456087] Chr22:28695862 [GRCh38]
Chr22:29091850 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.481G>C (p.Glu161Gln) single nucleotide variant Familial cancer of breast [RCV000556804]|Hereditary cancer-predisposing syndrome [RCV001023111] Chr22:28725088 [GRCh38]
Chr22:29121076 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1516A>G (p.Thr506Ala) single nucleotide variant Familial cancer of breast [RCV002526828]|Hereditary cancer-predisposing syndrome [RCV000562187] Chr22:28689161 [GRCh38]
Chr22:29085149 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.319+8C>G single nucleotide variant Familial cancer of breast [RCV000557399]|Hereditary cancer-predisposing syndrome [RCV000777282] Chr22:28734395 [GRCh38]
Chr22:29130383 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1543-10T>G single nucleotide variant Familial cancer of breast [RCV001479024] Chr22:28687996 [GRCh38]
Chr22:29083984 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.107A>G (p.Gln36Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563573] Chr22:28734615 [GRCh38]
Chr22:29130603 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.527G>A (p.Gly176Glu) single nucleotide variant Familial cancer of breast [RCV000526154]|Hereditary cancer-predisposing syndrome [RCV000573749] Chr22:28725042 [GRCh38]
Chr22:29121030 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.658T>C (p.Tyr220His) single nucleotide variant Familial cancer of breast [RCV001065388]|Hereditary cancer-predisposing syndrome [RCV000563992]|not provided [RCV003478234] Chr22:28719420 [GRCh38]
Chr22:29115408 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1304C>T (p.Ser435Leu) single nucleotide variant Familial cancer of breast [RCV002528127]|Hereditary cancer-predisposing syndrome [RCV000560984] Chr22:28695198 [GRCh38]
Chr22:29091186 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.347G>C (p.Gly116Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561168] Chr22:28725340 [GRCh38]
Chr22:29121328 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1582G>C (p.Glu528Gln) single nucleotide variant Familial cancer of breast [RCV000547565] Chr22:28687947 [GRCh38]
Chr22:29083935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.944G>A (p.Gly315Glu) single nucleotide variant Familial cancer of breast [RCV000548105]|Hereditary cancer-predisposing syndrome [RCV000777280] Chr22:28699902 [GRCh38]
Chr22:29095890 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-1G>A single nucleotide variant Breast and/or ovarian cancer [RCV001270938]|Familial cancer of breast [RCV000806075]|Gastric cancer [RCV003159957]|Hereditary cancer-predisposing syndrome [RCV000567692]|not provided [RCV004719877] Chr22:28712018 [GRCh38]
Chr22:29108006 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1522C>T (p.Leu508=) single nucleotide variant Familial cancer of breast [RCV002060465]|Hereditary cancer-predisposing syndrome [RCV000564469] Chr22:28689155 [GRCh38]
Chr22:29085143 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.406T>C (p.Tyr136His) single nucleotide variant Familial cancer of breast [RCV000553424]|Hereditary cancer-predisposing syndrome [RCV004023840]|not specified [RCV002465700] Chr22:28725281 [GRCh38]
Chr22:29121269 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.854TCA[1] (p.Ile286del) microsatellite Familial cancer of breast [RCV000555653] Chr22:28703554..28703556 [GRCh38]
Chr22:29099542..29099544 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs) deletion Familial cancer of breast [RCV000556192]|Hereditary cancer-predisposing syndrome [RCV002358485] Chr22:28724991..28724992 [GRCh38]
Chr22:29120979..29120980 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1276C>G (p.Pro426Ala) single nucleotide variant Familial cancer of breast [RCV000552175]|Hereditary cancer-predisposing syndrome [RCV000570156] Chr22:28695226 [GRCh38]
Chr22:29091214 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687891)_(28703572_?)del deletion Familial cancer of breast [RCV000544738] Chr22:28687891..28703572 [GRCh38]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.444+7_444+8insTCTCCTAG insertion Familial cancer of breast [RCV000560435] Chr22:28725235..28725236 [GRCh38]
Chr22:29121223..29121224 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.129C>G (p.Thr43=) single nucleotide variant Familial cancer of breast [RCV000546276] Chr22:28734593 [GRCh38]
Chr22:29130581 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1162C>G (p.Pro388Ala) single nucleotide variant Familial cancer of breast [RCV001858288]|Hereditary cancer-predisposing syndrome [RCV000562664] Chr22:28695807 [GRCh38]
Chr22:29091795 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.709G>T (p.Ala237Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000563447] Chr22:28711992 [GRCh38]
Chr22:29107980 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1193C>T (p.Ser398Phe) single nucleotide variant Familial cancer of breast [RCV005091301]|Hereditary cancer-predisposing syndrome [RCV000565624] Chr22:28695776 [GRCh38]
Chr22:29091764 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1547CTA[1] (p.Thr517del) microsatellite Familial cancer of breast [RCV000702939]|Hereditary cancer-predisposing syndrome [RCV000565801] Chr22:28687977..28687979 [GRCh38]
Chr22:29083965..29083967 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.997T>C (p.Leu333=) single nucleotide variant CHEK2-related disorder [RCV004541672]|Familial cancer of breast [RCV000525093]|Hereditary cancer-predisposing syndrome [RCV000570615] Chr22:28699849 [GRCh38]
Chr22:29095837 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.166A>G (p.Ser56Gly) single nucleotide variant Familial cancer of breast [RCV001363974]|Hereditary cancer-predisposing syndrome [RCV000567445] Chr22:28734556 [GRCh38]
Chr22:29130544 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.621T>A (p.Asp207Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561547] Chr22:28719457 [GRCh38]
Chr22:29115445 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.762del (p.Lys255fs) deletion Familial cancer of breast [RCV000548678]|Hereditary cancer-predisposing syndrome [RCV004023842] Chr22:28711939 [GRCh38]
Chr22:29107927 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1228T>G (p.Cys410Gly) single nucleotide variant Familial cancer of breast [RCV000534212]|Hereditary cancer-predisposing syndrome [RCV000567460]|not provided [RCV004592563] Chr22:28695741 [GRCh38]
Chr22:29091729 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1486C>A (p.Gln496Lys) single nucleotide variant Familial cancer of breast [RCV001858164]|Hereditary cancer-predisposing syndrome [RCV000565554] Chr22:28689191 [GRCh38]
Chr22:29085179 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-1G>A single nucleotide variant Familial cancer of breast [RCV000794944]|Hereditary cancer-predisposing syndrome [RCV000567556] Chr22:28699938 [GRCh38]
Chr22:29095926 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.382C>A (p.Pro128Thr) single nucleotide variant Familial cancer of breast [RCV000551518]|Hereditary cancer-predisposing syndrome [RCV002358484]|not provided [RCV005000152] Chr22:28725305 [GRCh38]
Chr22:29121293 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.255T>C (p.Pro85=) single nucleotide variant Familial cancer of breast [RCV000875791]|Hereditary cancer-predisposing syndrome [RCV000565619]|not specified [RCV000609617] Chr22:28734467 [GRCh38]
Chr22:29130455 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.597del (p.Phe199fs) deletion Familial cancer of breast [RCV000635856]|Hereditary cancer-predisposing syndrome [RCV000565709]|not provided [RCV001702682] Chr22:28719481 [GRCh38]
Chr22:29115469 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1035C>A (p.His345Gln) single nucleotide variant Familial cancer of breast [RCV000556996] Chr22:28696961 [GRCh38]
Chr22:29092949 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.895A>G (p.Ile299Val) single nucleotide variant Familial cancer of breast [RCV000557788]|Hereditary cancer-predisposing syndrome [RCV004023843] Chr22:28703518 [GRCh38]
Chr22:29099506 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847C>T (p.Pro283Ser) single nucleotide variant Familial cancer of breast [RCV000804093]|Hereditary cancer-predisposing syndrome [RCV000562345]|not provided [RCV003478206] Chr22:28703566 [GRCh38]
Chr22:29099554 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1036C>G (p.Arg346Gly) single nucleotide variant Familial cancer of breast [RCV000685523]|Hereditary cancer-predisposing syndrome [RCV000568147]|not provided [RCV004773001] Chr22:28696960 [GRCh38]
Chr22:29092948 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1198G>T (p.Gly400Trp) single nucleotide variant Familial cancer of breast [RCV001240305]|Hereditary cancer-predisposing syndrome [RCV000777112]|not provided [RCV000519455] Chr22:28695771 [GRCh38]
Chr22:29091759 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1103A>G (p.Asp368Gly) single nucleotide variant Familial cancer of breast [RCV002530306]|Hereditary cancer-predisposing syndrome [RCV000568476]|not specified [RCV003320475] Chr22:28695866 [GRCh38]
Chr22:29091854 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1001C>A (p.Ala334Asp) single nucleotide variant Familial cancer of breast [RCV001857966]|Hereditary cancer-predisposing syndrome [RCV001009631]|not provided [RCV000521186] Chr22:28699845 [GRCh38]
Chr22:29095833 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.401A>G (p.Asp134Gly) single nucleotide variant CHEK2-related disorder [RCV004527662]|Familial cancer of breast [RCV001248007]|Hereditary cancer-predisposing syndrome [RCV000568579] Chr22:28725286 [GRCh38]
Chr22:29121274 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1008+1G>A single nucleotide variant Familial cancer of breast [RCV000804027]|Hereditary cancer-predisposing syndrome [RCV000564808] Chr22:28699837 [GRCh38]
Chr22:29095825 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.802C>T (p.Leu268Phe) single nucleotide variant Familial cancer of breast [RCV001048041]|Hereditary cancer-predisposing syndrome [RCV000777671]|not provided [RCV000519815] Chr22:28710050 [GRCh38]
Chr22:29106038 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.320-5T>C single nucleotide variant Familial cancer of breast [RCV001503041]|Hereditary cancer-predisposing syndrome [RCV000566443]|not specified [RCV001269219] Chr22:28725372 [GRCh38]
Chr22:29121360 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.926T>C (p.Leu309Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000567110] Chr22:28699920 [GRCh38]
Chr22:29095908 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala) single nucleotide variant Familial cancer of breast [RCV000555442]|Hereditary cancer-predisposing syndrome [RCV000565631] Chr22:28695810 [GRCh38]
Chr22:29091798 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1433AAG[1] (p.Glu479del) microsatellite Familial cancer of breast [RCV001070441]|Hereditary cancer-predisposing syndrome [RCV000563991] Chr22:28694055..28694057 [GRCh38]
Chr22:29090043..29090045 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29115377)_(29115479_?)del deletion Familial cancer of breast [RCV000547416] Chr22:29115377..29115479 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.566T>C (p.Ile189Thr) single nucleotide variant Familial cancer of breast [RCV000539499]|Hereditary cancer-predisposing syndrome [RCV000569616] Chr22:28725003 [GRCh38]
Chr22:29120991 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1038T>C (p.Arg346=) single nucleotide variant Familial cancer of breast [RCV000545512]|Hereditary cancer-predisposing syndrome [RCV002395339] Chr22:28696958 [GRCh38]
Chr22:29092946 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.847C>G (p.Pro283Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561226] Chr22:28703566 [GRCh38]
Chr22:29099554 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.983T>G (p.Phe328Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000561309] Chr22:28699863 [GRCh38]
Chr22:29095851 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.340T>G (p.Trp114Gly) single nucleotide variant Familial cancer of breast [RCV001051713]|Hereditary cancer-predisposing syndrome [RCV000564693] Chr22:28725347 [GRCh38]
Chr22:29121335 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.455C>T (p.Pro152Leu) single nucleotide variant Familial cancer of breast [RCV001211147]|Hereditary cancer-predisposing syndrome [RCV003159668]|not provided [RCV000519335] Chr22:28725114 [GRCh38]
Chr22:29121102 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 copy number gain See cases [RCV000050553] Chr22:26979579..33992220 [GRCh38]
Chr22:27375542..34388209 [GRCh37]
Chr22:25705542..32718209 [NCBI36]
Chr22:22q12.1-12.3		 pathogenic
GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3 copy number gain See cases [RCV000052852] Chr22:27557778..28988149 [GRCh38]
Chr22:27953739..29384137 [GRCh37]
Chr22:26283739..27714137 [NCBI36]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1 copy number loss See cases [RCV000052869] Chr22:26221273..29477543 [GRCh38]
Chr22:26617239..29873532 [GRCh37]
Chr22:24947239..28203532 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28278805-31742328)x1 copy number loss See cases [RCV000052870] Chr22:28278805..31742328 [GRCh38]
Chr22:28674793..32138314 [GRCh37]
Chr22:27004793..30468314 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1 copy number loss See cases [RCV000052871] Chr22:28441035..30276511 [GRCh38]
Chr22:28837023..30672500 [GRCh37]
Chr22:27167023..29002500 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
NM_007194.4(CHEK2):c.1136C>T (p.Ser379Phe) single nucleotide variant Familial cancer of breast [RCV000232957]|Hereditary cancer-predisposing syndrome [RCV001009944] Chr22:28695833 [GRCh38]
Chr22:29091821 [GRCh37]
Chr22:27421821 [NCBI36]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.1096del (p.Ile366fs) deletion Familial cancer of breast [RCV000706768]|Hereditary cancer-predisposing syndrome [RCV004609475]|not provided [RCV000657278] Chr22:28695873 [GRCh38]
Chr22:29091861 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs) deletion Familial cancer of breast [RCV000662880]|Hereditary cancer-predisposing syndrome [RCV002388158]|Incidental Discovery [RCV005251003]|not provided [RCV000657319] Chr22:28689181..28689185 [GRCh38]
Chr22:29085169..29085173 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter) single nucleotide variant Familial cancer of breast [RCV001377422]|Hereditary cancer-predisposing syndrome [RCV002388160]|not provided [RCV000657698] Chr22:28689167 [GRCh38]
Chr22:29085155 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.122C>T (p.Ser41Phe) single nucleotide variant Familial cancer of breast [RCV000471346]|Hereditary cancer-predisposing syndrome [RCV000131220]|not provided [RCV000114752]|not specified [RCV003493441] Chr22:28734600 [GRCh38]
Chr22:29130588 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.684-74G>C single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV002225313]|not provided [RCV000114753] Chr22:28712091 [GRCh38]
Chr22:29108079 [GRCh37]
Chr22:22q12.1		 likely benign|not provided
NM_007194.4(CHEK2):c.684-4C>G single nucleotide variant Familial cancer of breast [RCV000546556]|Hereditary cancer-predisposing syndrome [RCV001025721]|not provided [RCV000114754] Chr22:28712021 [GRCh38]
Chr22:29108009 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance|not provided
NM_007194.4(CHEK2):c.1008+71A>G single nucleotide variant not provided [RCV000114755] Chr22:28699767 [GRCh38]
Chr22:29095755 [GRCh37]
Chr22:22q12.1		 not provided
NM_007194.4(CHEK2):c.-34A>T single nucleotide variant not provided [RCV000114756]|not specified [RCV000426082] Chr22:28741796 [GRCh38]
Chr22:29137784 [GRCh37]
Chr22:22q12.1		 likely benign|not provided
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) single nucleotide variant CHEK2-related disorder [RCV004528798]|Familial cancer of breast [RCV000474753]|Hereditary cancer-predisposing syndrome [RCV000132117]|Malignant tumor of breast [RCV001355098]|Prostate cancer [RCV002288586]|not provided [RCV000114763]|not specified [RCV000781298] Chr22:28696929 [GRCh38]
Chr22:29092917 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.1201A>G (p.Thr401Ala) single nucleotide variant Familial cancer of breast [RCV000232135]|Hereditary cancer-predisposing syndrome [RCV000115988]|not provided [RCV000114764]|not specified [RCV004595927] Chr22:28695768 [GRCh38]
Chr22:29091756 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) single nucleotide variant Breast and/or ovarian cancer [RCV001798305]|CHEK2-related cancer predisposition [RCV005414454]|Familial cancer of breast [RCV000196666]|Familial cancer of breast [RCV000515378]|Hereditary cancer-predisposing syndrome [RCV000449435]|Malignant tumor of breast [RCV001356532]|not provided [RCV000114765]|not specified [RCV000160437] Chr22:28695166 [GRCh38]
Chr22:29091154 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) single nucleotide variant Breast and/or ovarian cancer [RCV003492448]|CHEK2-related cancer predisposition [RCV003387763]|CHEK2-related disorder [RCV004737196]|Familial cancer of breast [RCV000206096]|Hereditary breast ovarian cancer syndrome [RCV004804112]|Hereditary cancer-predisposing syndrome [RCV000116000]|not provided [RCV000114766]|not specified [RCV004700414] Chr22:28694072 [GRCh38]
Chr22:29090060 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.1259+1G>C single nucleotide variant Familial cancer of breast [RCV000816882]|Hereditary cancer-predisposing syndrome [RCV000566906]|not provided [RCV000114767] Chr22:28695709 [GRCh38]
Chr22:29091697 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|not provided
NM_007194.4(CHEK2):c.1259+28A>G single nucleotide variant not provided [RCV000114768] Chr22:28695682 [GRCh38]
Chr22:29091670 [GRCh37]
Chr22:22q12.1		 not provided
NM_007194.4(CHEK2):c.1543-31del deletion not provided [RCV000114769] Chr22:28688017 [GRCh38]
Chr22:29084005 [GRCh37]
Chr22:22q12.1		 not provided
NM_007194.4(CHEK2):c.444+1G>T single nucleotide variant CHEK2-related cancer predisposition [RCV005394377]|Familial cancer of breast [RCV000199852]|Hereditary cancer-predisposing syndrome [RCV001022484]|not provided [RCV000114770] Chr22:28725242 [GRCh38]
Chr22:29121230 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|not provided
NM_007194.4(CHEK2):c.320-5T>A single nucleotide variant Breast and/or ovarian cancer [RCV001798354]|CHEK2-related disorder [RCV004528807]|Familial cancer of breast [RCV000195943]|Familial cancer of breast [RCV001171460]|Hereditary cancer [RCV003492504]|Hereditary cancer-predisposing syndrome [RCV000116011]|not provided [RCV000119289]|not specified [RCV000212412] Chr22:28725372 [GRCh38]
Chr22:29121360 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.1109G>A (p.Gly370Glu) single nucleotide variant Familial cancer of breast [RCV001325070]|Hereditary cancer-predisposing syndrome [RCV000115981]|not provided [RCV000212448] Chr22:28695860 [GRCh38]
Chr22:29091848 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) single nucleotide variant Breast and/or ovarian cancer [RCV001797995]|CHEK2-related cancer predisposition [RCV001294022]|CHEK2-related cancer predisposition [RCV005025011]|Familial cancer of breast [RCV000233960]|Familial cancer of breast [RCV000765623]|Hereditary breast ovarian cancer syndrome [RCV001030688]|Hereditary cancer-predisposing syndrome [RCV000129670]|Malignant tumor of breast [RCV001357854]|Prostate cancer [RCV003333687]|not provided [RCV000114761]|not specified [RCV001193685] Chr22:28725027 [GRCh38]
Chr22:29121015 [GRCh37]
Chr22:22q12.1		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other|not provided
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) single nucleotide variant CHEK2-related cancer predisposition [RCV004760322]|CHEK2-related disorder [RCV004532294]|Familial cancer of breast [RCV000205850]|Familial cancer of breast [RCV002476934]|Hereditary cancer-predisposing syndrome [RCV000131201]|Predisposition to cancer [RCV001789748]|Prostate cancer [RCV003333689]|not provided [RCV000114762]|not specified [RCV001818140] Chr22:28711986 [GRCh38]
Chr22:29107974 [GRCh37]
Chr22:22q12.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other|not provided
NM_007194.3(CHEK2):c.320-3581C>G single nucleotide variant Lung cancer [RCV000102013] Chr22:28728948 [GRCh38]
Chr22:29124936 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-4C>T single nucleotide variant CHEK2-related disorder [RCV004542826]|Familial cancer of breast [RCV000232150]|Familial ovarian cancer [RCV001356669]|Hereditary breast ovarian cancer syndrome [RCV005251063]|Hereditary cancer-predisposing syndrome [RCV000115977]|not provided [RCV000589024]|not specified [RCV001175353] Chr22:28734725 [GRCh38]
Chr22:29130713 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.-6-9C>G single nucleotide variant not provided [RCV000115978] Chr22:28734736 [GRCh38]
Chr22:29130724 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-6G>A single nucleotide variant CHEK2-related disorder [RCV004542827]|Familial cancer of breast [RCV000197200]|Familial cancer of breast [RCV005406829]|Hereditary cancer-predisposing syndrome [RCV000776065]|Malignant tumor of breast [RCV001357979]|not provided [RCV000590166]|not specified [RCV000722128] Chr22:28734727 [GRCh38]
Chr22:29130715 [GRCh37]
Chr22:22q12.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) deletion Astrocytoma [RCV000591014]|Bone osteosarcoma [RCV001770086]|Breast and colorectal cancer, susceptibility to [RCV000210137]|Breast and/or ovarian cancer [RCV001270933]|Breast cancer, susceptibility to [RCV000500025]|Breast carcinoma [RCV001572630]|Breast neoplasm [RCV000413386]|Breast neoplasm [RCV000488416]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004760381]|CHEK2-related cancer predisposition [RCV000005932]|CHEK2-related cancer predisposition [RCV005025181]|CHEK2-related disorder [RCV004528801]|Carcinoma of pancreas [RCV001391208]|Colorectal cancer [RCV002463641]|Familial cancer of breast [RCV000123265]|Familial cancer of breast [RCV000515188]|Familial cancer of breast [RCV005255483]|Hereditary breast ovarian cancer syndrome [RCV002225332]|Hereditary cancer-predisposing syndrome [RCV000115980]|Inherited breast cancer and ovarian cancer [RCV004577323]|Inherited prostate cancer [RCV005430495]|Li-Fraumeni syndrome 1 [RCV003388828]|Li-Fraumeni syndrome [RCV000587467]|Malignant tumor of breast [RCV001354431]|NICE approved PARP inhibitor treatment [RCV004691754]|Ovarian neoplasm [RCV003445511]|Predisposition to cancer [RCV002291559]|Prostate cancer [RCV003992185]|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL [RCV003333692]|not provided [RCV000212447] Chr22:28695869 [GRCh38]
Chr22:29091857 [GRCh37]
Chr22:22q12.1		 pathogenic|risk factor|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) single nucleotide variant Bone osteosarcoma [RCV003448266]|Breast neoplasm [RCV000677873]|CHEK2-related cancer predisposition [RCV005003475]|CHEK2-related disorder [RCV004529939]|Familial cancer of breast [RCV000197709]|Familial cancer of breast [RCV001527478]|Hereditary breast ovarian cancer syndrome [RCV001030625]|Hereditary cancer-predisposing syndrome [RCV000115982]|Malignant tumor of breast [RCV001355387]|not provided [RCV000656834]|not specified [RCV000212449] Chr22:28695858 [GRCh38]
Chr22:29091846 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) single nucleotide variant Breast and/or ovarian cancer [RCV003149808]|CHEK2-related cancer predisposition [RCV005365001]|Familial cancer of breast [RCV000412249]|Hereditary cancer-predisposing syndrome [RCV000115983]|not provided [RCV000212450]|not specified [RCV001171425] Chr22:28695839 [GRCh38]
Chr22:29091827 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) single nucleotide variant CHEK2-related disorder [RCV004529940]|Familial cancer of breast [RCV000231285]|Familial cancer of breast [RCV000764376]|Hereditary cancer-predisposing syndrome [RCV000115984]|not provided [RCV000656835]|not specified [RCV001420894] Chr22:28695836 [GRCh38]
Chr22:29091824 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile) single nucleotide variant Familial cancer of breast [RCV000531635]|Hereditary cancer-predisposing syndrome [RCV000571263]|not provided [RCV000115985]|not specified [RCV002307396] Chr22:28695809 [GRCh38]
Chr22:29091797 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) single nucleotide variant CHEK2-related cancer predisposition [RCV005025182]|Familial cancer of breast [RCV000228584]|Hereditary breast ovarian cancer syndrome [RCV003483480]|Hereditary cancer-predisposing syndrome [RCV000115986]|Malignant tumor of breast [RCV001356701]|not provided [RCV000212453]|not specified [RCV003226200] Chr22:28695789 [GRCh38]
Chr22:29091777 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) single nucleotide variant Breast and/or ovarian cancer [RCV001270934]|CHEK2-related disorder [RCV004737197]|Familial cancer of breast [RCV000230538]|Hereditary breast ovarian cancer syndrome [RCV004760382]|Hereditary cancer-predisposing syndrome [RCV000115987]|not provided [RCV000212454]|not specified [RCV003114262] Chr22:28695786 [GRCh38]
Chr22:29091774 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) single nucleotide variant CHEK2-related cancer predisposition [RCV005359095]|Familial cancer of breast [RCV000199599]|Familial cancer of breast [RCV000764373]|Hereditary breast ovarian cancer syndrome [RCV004764764]|Hereditary cancer-predisposing syndrome [RCV000219945]|not provided [RCV000115989] Chr22:28695754 [GRCh38]
Chr22:29091742 [GRCh37]
Chr22:22q12.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1231T>A (p.Trp411Arg) single nucleotide variant Familial cancer of breast [RCV000635812]|Hereditary cancer-predisposing syndrome [RCV000579835]|not provided [RCV000115990] Chr22:28695738 [GRCh38]
Chr22:29091726 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1254del (p.Phe418fs) deletion Familial cancer of breast [RCV000635839]|Hereditary cancer-predisposing syndrome [RCV002415594]|not provided [RCV000115991] Chr22:28695715 [GRCh38]
Chr22:29091703 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) deletion Breast and/or ovarian cancer [RCV003149809]|CHEK2-related cancer predisposition [RCV003313937]|CHEK2-related cancer predisposition [RCV005003476]|CHEK2-related disorder [RCV004737198]|Familial cancer of breast [RCV000198820]|Hereditary breast ovarian cancer syndrome [RCV000585980]|Hereditary cancer-predisposing syndrome [RCV000115992]|Predisposition to cancer [RCV002254679]|Prostate cancer [RCV001542702]|not provided [RCV000212457] Chr22:28695239 [GRCh38]
Chr22:29091227 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) single nucleotide variant Breast and/or ovarian cancer [RCV003492501]|CHEK2-related cancer predisposition [RCV005031610]|CHEK2-related cancer predisposition [RCV005414455]|CHEK2-related disorder [RCV004528802]|Familial cancer of breast [RCV000197909]|Familial cancer of breast [RCV000515214]|Hereditary breast ovarian cancer syndrome [RCV004764765]|Hereditary cancer-predisposing syndrome [RCV000115993]|Malignant tumor of breast [RCV001355460]|not provided [RCV000590008]|not specified [RCV001175351] Chr22:28695232 [GRCh38]
Chr22:29091220 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1293G>T (p.Arg431Ser) single nucleotide variant not provided [RCV000115995] Chr22:28695209 [GRCh38]
Chr22:29091197 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) single nucleotide variant CHEK2-related cancer predisposition [RCV003493445]|Familial cancer of breast [RCV000206044]|Familial cancer of breast [RCV000234795]|Familial cancer of breast [RCV000764370]|Hereditary cancer-predisposing syndrome [RCV000115999]|not provided [RCV000588723]|not specified [RCV002222396] Chr22:28694073 [GRCh38]
Chr22:29090061 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) single nucleotide variant Breast and/or ovarian cancer [RCV001798350]|CHEK2-related cancer predisposition [RCV001294021]|CHEK2-related disorder [RCV004528803]|Carcinoma of colon [RCV001356041]|Familial cancer of breast [RCV000199565]|Familial cancer of breast [RCV000515311]|Hereditary breast ovarian cancer syndrome [RCV003483481]|Hereditary cancer [RCV003492502]|Hereditary cancer-predisposing syndrome [RCV000115996]|Malignant tumor of breast [RCV001269492]|not provided [RCV000587890]|not specified [RCV000200982] Chr22:28695190 [GRCh38]
Chr22:29091178 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_007194.4(CHEK2):c.1318A>C (p.Ile440Leu) single nucleotide variant Familial cancer of breast [RCV000796599]|Hereditary cancer-predisposing syndrome [RCV000234920]|not provided [RCV000115997] Chr22:28695184 [GRCh38]
Chr22:29091172 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1318A>T (p.Ile440Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003362689]|not provided [RCV000115998] Chr22:28695184 [GRCh38]
Chr22:29091172 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV000210077]|Breast and/or ovarian cancer [RCV001798351]|Breast carcinoma [RCV001572627]|Breast neoplasm [RCV000317389]|CHEK2-related cancer predisposition [RCV003444200]|CHEK2-related cancer predisposition [RCV005025183]|CHEK2-related disorder [RCV004528804]|Colon cancer [RCV001564016]|Colorectal cancer [RCV000259876]|Familial cancer of breast [RCV000198554]|Familial cancer of breast [RCV004820830]|Hereditary breast ovarian cancer syndrome [RCV005089582]|Hereditary cancer-predisposing syndrome [RCV000116001]|Malignant tumor of breast [RCV001357877]|not provided [RCV000212465]|not specified [RCV000499890] Chr22:28694066 [GRCh38]
Chr22:29090054 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|established risk allele|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_007194.4(CHEK2):c.1448A>G (p.His483Arg) single nucleotide variant Familial cancer of breast [RCV000199678]|Hereditary cancer-predisposing syndrome [RCV000116002]|not provided [RCV000679674] Chr22:28694045 [GRCh38]
Chr22:29090033 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1470C>A (p.Asp490Glu) single nucleotide variant Familial cancer of breast [RCV000462156]|Hereditary cancer-predisposing syndrome [RCV000116003]|not provided [RCV000212469]|not specified [RCV003321507] Chr22:28689207 [GRCh38]
Chr22:29085195 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV005025184]|CHEK2-related disorder [RCV004528805]|Familial cancer of breast [RCV000200569]|Familial cancer of breast [RCV000764368]|Familial cancer of breast [RCV003483482]|Hereditary cancer-predisposing syndrome [RCV000116004]|Li-Fraumeni syndrome [RCV005359096]|not provided [RCV000212472]|not specified [RCV000781300] Chr22:28689152 [GRCh38]
Chr22:29085140 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV000210124]|Breast and/or ovarian cancer [RCV001798352]|CHEK2-related cancer predisposition [RCV001705822]|CHEK2-related cancer predisposition [RCV004796022]|Familial cancer of breast [RCV000471222]|Familial cancer of breast [RCV004819219]|Gastric cancer [RCV003162543]|Hereditary breast ovarian cancer syndrome [RCV000589100]|Hereditary cancer-predisposing syndrome [RCV000116005]|not provided [RCV000212474] Chr22:28687974 [GRCh38]
Chr22:29083962 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) single nucleotide variant Familial cancer of breast [RCV000227687]|Hereditary cancer-predisposing syndrome [RCV000116006]|not provided [RCV000212475]|not specified [RCV002265609] Chr22:28687973 [GRCh38]
Chr22:29083961 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) single nucleotide variant Breast and/or ovarian cancer [RCV001798353]|CHEK2-related cancer predisposition [RCV005025185]|CHEK2-related disorder [RCV004529941]|Familial cancer of breast [RCV000198277]|Familial cancer of breast [RCV000515321]|Hereditary cancer [RCV003492503]|Hereditary cancer-predisposing syndrome [RCV000116007]|Malignant tumor of breast [RCV001357730]|Predisposition to cancer [RCV002291560]|not provided [RCV000586195]|not specified [RCV000212476] Chr22:28687973 [GRCh38]
Chr22:29083961 [GRCh37]
Chr22:22q12.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) single nucleotide variant Familial cancer of breast [RCV000412260]|Hereditary cancer-predisposing syndrome [RCV000116008]|Hereditary nonpolyposis colon cancer [RCV005359097]|not provided [RCV000212482]|not specified [RCV001818284] Chr22:28687925 [GRCh38]
Chr22:29083913 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV000210191]|Breast and/or ovarian cancer [RCV001270935]|CHEK2-related cancer predisposition [RCV003338414]|CHEK2-related cancer predisposition [RCV005025186]|CHEK2-related disorder [RCV004528806]|Familial cancer of breast [RCV000199067]|Hereditary breast ovarian cancer syndrome [RCV002265610]|Hereditary cancer-predisposing syndrome [RCV000116009]|Malignant tumor of breast [RCV001356247]|Predisposition to cancer [RCV003153376]|not provided [RCV000212407]|not specified [RCV002465520] Chr22:28734532 [GRCh38]
Chr22:29130520 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) microsatellite Breast and/or ovarian cancer [RCV003149810]|CHEK2-related cancer predisposition [RCV005025187]|CHEK2-related cancer predisposition [RCV005359098]|CHEK2-related disorder [RCV004724810]|Familial cancer of breast [RCV000197398]|Hereditary cancer [RCV005229914]|Hereditary cancer-predisposing syndrome [RCV000116010]|Malignant tumor of breast [RCV001357842]|Predisposition to cancer [RCV001543105]|not provided [RCV000587933]|not specified [RCV000212408] Chr22:28734462..28734476 [GRCh38]
Chr22:29130450..29130464 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) single nucleotide variant Breast and/or ovarian cancer [RCV001798355]|Breast cancer, susceptibility to [RCV001258041]|CHEK2-related cancer predisposition [RCV001787918]|CHEK2-related cancer predisposition [RCV005003477]|CHEK2-related disorder [RCV003114263]|Familial cancer of breast [RCV000204429]|Hereditary breast ovarian cancer syndrome [RCV001374534]|Hereditary cancer-predisposing syndrome [RCV000116012]|Inherited breast cancer and ovarian cancer [RCV005252761]|Malignant tumor of breast [RCV001263516]|Predisposition to cancer [RCV001526815]|not provided [RCV000212414] Chr22:28725338 [GRCh38]
Chr22:29121326 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) single nucleotide variant Familial cancer of breast [RCV000473822]|Familial cancer of breast [RCV002477285]|Hereditary cancer-predisposing syndrome [RCV000116013]|Hereditary nonpolyposis colon cancer [RCV005365002]|not provided [RCV000212415] Chr22:28725287 [GRCh38]
Chr22:29121275 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) single nucleotide variant Breast and/or ovarian cancer [RCV001798356]|CHEK2-related cancer predisposition [RCV005234999]|Familial cancer of breast [RCV000204285]|Hereditary cancer-predisposing syndrome [RCV000116014]|not provided [RCV000588933]|not specified [RCV000254657] Chr22:28725277 [GRCh38]
Chr22:29121265 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.416A>G (p.Tyr139Cys) single nucleotide variant Familial cancer of breast [RCV000693527]|Hereditary cancer-predisposing syndrome [RCV000563962]|not provided [RCV000116015] Chr22:28725271 [GRCh38]
Chr22:29121259 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.444+1G>A single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV000210090]|Breast and/or ovarian cancer [RCV001270936]|Breast cancer, susceptibility to [RCV000501923]|Breast carcinoma [RCV001554253]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005246647]|CHEK2-related cancer predisposition [RCV001705823]|CHEK2-related cancer predisposition [RCV005031611]|CHEK2-related disorder [RCV004737199]|Colorectal cancer [RCV002463642]|Endometrial carcinoma [RCV003128145]|Familial cancer of breast [RCV000196718]|Familial cancer of breast [RCV000763475]|Familial cancer of breast [RCV001171461]|Hereditary cancer-predisposing syndrome [RCV000116017]|Inherited breast cancer and ovarian cancer [RCV004772840]|Malignant tumor of breast [RCV001354639]|Melanoma [RCV002508922]|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE [RCV003333693]|not provided [RCV000212418] Chr22:28725242 [GRCh38]
Chr22:29121230 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|risk factor|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) single nucleotide variant CHEK2-related cancer predisposition [RCV001292859]|Familial cancer of breast [RCV000464571]|Hereditary cancer-predisposing syndrome [RCV000116019]|Predisposition to cancer [RCV003444201]|not provided [RCV000766748] Chr22:28725090 [GRCh38]
Chr22:29121078 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) single nucleotide variant Breast and/or ovarian cancer [RCV001798357]|CHEK2-related cancer predisposition [RCV003387765]|CHEK2-related disorder [RCV004529942]|Familial cancer of breast [RCV001005035]|Hereditary cancer-predisposing syndrome [RCV000116020]|not provided [RCV000586231]|not specified [RCV001549277] Chr22:28725089 [GRCh38]
Chr22:29121077 [GRCh37]
Chr22:22q12.1		 risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.500G>A (p.Gly167Glu) single nucleotide variant Familial cancer of breast [RCV000474336]|Hereditary cancer-predisposing syndrome [RCV000565735]|not provided [RCV000116021] Chr22:28725069 [GRCh38]
Chr22:29121057 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.507del (p.Phe169fs) deletion CHEK2-related cancer predisposition [RCV005359099]|Colorectal cancer [RCV002288601]|Familial cancer of breast [RCV000550157]|Hereditary cancer-predisposing syndrome [RCV000116022]|not provided [RCV000254658] Chr22:28725062 [GRCh38]
Chr22:29121050 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.524dup (p.Gly176fs) duplication Familial cancer of breast [RCV001387573]|Hereditary cancer-predisposing syndrome [RCV000116023]|not provided [RCV000497285] Chr22:28725044..28725045 [GRCh38]
Chr22:29121032..29121033 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) single nucleotide variant Breast and/or ovarian cancer [RCV001798358]|CHEK2-related cancer predisposition [RCV005414456]|CHEK2-related disorder [RCV004529943]|Familial cancer of breast [RCV000196561]|Hereditary breast ovarian cancer syndrome [RCV001030689]|Hereditary cancer-predisposing syndrome [RCV000116024]|Prostate cancer [RCV000490304]|not provided [RCV000588124]|not specified [RCV000212426] Chr22:28725031 [GRCh38]
Chr22:29121019 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.565A>G (p.Ile189Val) single nucleotide variant Familial cancer of breast [RCV000230801]|Familial cancer of breast [RCV002483188]|Familial prostate cancer [RCV005359100]|Hereditary cancer-predisposing syndrome [RCV000116026]|not provided [RCV000212429]|not specified [RCV005237553] Chr22:28725004 [GRCh38]
Chr22:29120992 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_007194.4(CHEK2):c.581del (p.Ser194fs) deletion Hereditary cancer-predisposing syndrome [RCV000116027] Chr22:28724988 [GRCh38]
Chr22:29120976 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.613A>T (p.Thr205Ser) single nucleotide variant Breast and/or ovarian cancer [RCV003492505]|Familial cancer of breast [RCV000206150]|Hereditary cancer-predisposing syndrome [RCV000573201]|Malignant tumor of breast [RCV001358532]|not provided [RCV000116028] Chr22:28719465 [GRCh38]
Chr22:29115453 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) single nucleotide variant Familial cancer of breast [RCV000233411]|Hereditary cancer-predisposing syndrome [RCV000571943]|not provided [RCV001704016]|not specified [RCV003150946] Chr22:28734648 [GRCh38]
Chr22:29130636 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) single nucleotide variant CHEK2-related cancer predisposition [RCV005359101]|Familial cancer of breast [RCV000206871]|Familial cancer of breast [RCV002490783]|Hereditary cancer-predisposing syndrome [RCV000116030]|not provided [RCV000587105]|not specified [RCV000212436] Chr22:28711950 [GRCh38]
Chr22:29107938 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) single nucleotide variant CHEK2-related disorder [RCV004529944]|Carcinoma of colon [RCV001357959]|Familial cancer of breast [RCV000464095]|Familial cancer of breast [RCV002477286]|Hereditary cancer-predisposing syndrome [RCV000116031]|not provided [RCV000212438]|not specified [RCV000780183] Chr22:28703507 [GRCh38]
Chr22:29099495 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) single nucleotide variant Familial cancer of breast [RCV000473787]|Hereditary cancer-predisposing syndrome [RCV000213975]|not provided [RCV000116032]|not specified [RCV001251264] Chr22:28699931 [GRCh38]
Chr22:29095919 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) single nucleotide variant CHEK2-related cancer predisposition [RCV001251038]|Carcinoma of pancreas [RCV001391209]|Colonic neoplasm [RCV001579302]|Familial cancer of breast [RCV000228767]|Hereditary cancer-predisposing syndrome [RCV000116033]|Inherited breast cancer and ovarian cancer [RCV004584194]|Malignant tumor of breast [RCV001355901]|not provided [RCV000212440]|not specified [RCV003320458] Chr22:28699929 [GRCh38]
Chr22:29095917 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_007194.4(CHEK2):c.952C>T (p.Arg318Cys) single nucleotide variant CHEK2-related cancer predisposition [RCV005359102]|CHEK2-related disorder [RCV004737200]|Familial cancer of breast [RCV000205025]|Hereditary cancer-predisposing syndrome [RCV000116034]|not provided [RCV000212442]|not specified [RCV001818285] Chr22:28699894 [GRCh38]
Chr22:29095882 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.973A>C (p.Lys325Gln) single nucleotide variant not provided [RCV000116035] Chr22:28699873 [GRCh38]
Chr22:29095861 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) single nucleotide variant Breast and/or ovarian cancer [RCV001270939]|CHEK2-related cancer predisposition [RCV005031612]|CHEK2-related disorder [RCV004529945]|Familial cancer of breast [RCV000410273]|Familial cancer of breast [RCV000515334]|Hereditary cancer-predisposing syndrome [RCV000116036]|not provided [RCV000212443] Chr22:28699866 [GRCh38]
Chr22:29095854 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.*7T>C single nucleotide variant Familial cancer of breast [RCV000206507]|Hereditary cancer-predisposing syndrome [RCV000584174]|Malignant tumor of breast [RCV001355148]|not provided [RCV000119290]|not specified [RCV000160461] Chr22:28687890 [GRCh38]
Chr22:29083878 [GRCh37]
Chr22:22q12.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.444+24C>T single nucleotide variant not provided [RCV000119788]|not specified [RCV002465525] Chr22:28725219 [GRCh38]
Chr22:29121207 [GRCh37]
Chr22:22q12.1		 likely benign|not provided
NM_007194.4(CHEK2):c.444+19T>C single nucleotide variant Breast and/or ovarian cancer [RCV003492568]|Familial cancer of breast [RCV000409756]|Hereditary cancer-predisposing syndrome [RCV000132152]|not provided [RCV001795226]|not specified [RCV000212419] Chr22:28725224 [GRCh38]
Chr22:29121212 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) single nucleotide variant Breast and/or ovarian cancer [RCV001798421]|CHEK2-related disorder [RCV004530077]|Familial cancer of breast [RCV000468977]|Hereditary cancer-predisposing syndrome [RCV000124261]|not provided [RCV003237734]|not specified [RCV000212425] Chr22:28725041 [GRCh38]
Chr22:29121029 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_007194.4(CHEK2):c.593-14C>T single nucleotide variant CHEK2-related cancer predisposition [RCV005414458]|Familial cancer of breast [RCV000411378]|Hereditary breast ovarian cancer syndrome [RCV002225405]|Hereditary cancer-predisposing syndrome [RCV000580201]|Malignant tumor of breast [RCV001354198]|not provided [RCV005229937]|not specified [RCV000124262] Chr22:28719499 [GRCh38]
Chr22:29115487 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.847-17T>C single nucleotide variant CHEK2-related cancer predisposition [RCV005235030]|Familial cancer of breast [RCV000411612]|Hereditary cancer-predisposing syndrome [RCV000130978]|not specified [RCV000212437] Chr22:28703583 [GRCh38]
Chr22:29099571 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) single nucleotide variant Breast and/or ovarian cancer [RCV003149857]|CHEK2-related cancer predisposition [RCV005235031]|Familial cancer of breast [RCV000200578]|Hereditary breast ovarian cancer syndrome [RCV002225406]|Hereditary cancer-predisposing syndrome [RCV000124265]|not provided [RCV000589618]|not specified [RCV000212461] Chr22:28694086 [GRCh38]
Chr22:29090074 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) single nucleotide variant CHEK2-related cancer predisposition [RCV005359180]|Familial cancer of breast [RCV000195471]|Hereditary cancer-predisposing syndrome [RCV000124266]|not provided [RCV000679676]|not specified [RCV000212470] Chr22:28689180 [GRCh38]
Chr22:29085168 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_007194.4(CHEK2):c.-40G>T single nucleotide variant not specified [RCV000124267] Chr22:28741802 [GRCh38]
Chr22:29137790 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.*18C>T single nucleotide variant Breast and/or ovarian cancer [RCV003149858]|CHEK2-related cancer predisposition [RCV005414459]|Familial cancer of breast [RCV000411985]|Hereditary cancer-predisposing syndrome [RCV000580710]|not provided [RCV001682839]|not specified [RCV000124268] Chr22:28687879 [GRCh38]
Chr22:29083867 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) single nucleotide variant Familial cancer of breast [RCV000196102]|Hereditary cancer-predisposing syndrome [RCV000129718]|Malignant tumor of breast [RCV001355777]|not provided [RCV000656829]|not specified [RCV000120550] Chr22:28734708 [GRCh38]
Chr22:29130696 [GRCh37]
Chr22:22q12.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) single nucleotide variant Breast carcinoma [RCV001640105]|CHEK2-related cancer predisposition [RCV003992188]|Familial cancer of breast [RCV000458969]|Familial cancer of breast [RCV004796025]|Familial ovarian cancer [RCV001356492]|Hereditary cancer-predisposing syndrome [RCV000579628]|Inherited breast cancer and ovarian cancer [RCV004584196]|not provided [RCV000255024]|not specified [RCV000120552] Chr22:28734664 [GRCh38]
Chr22:29130652 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records|not provided
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) single nucleotide variant CHEK2-related cancer predisposition [RCV005414457]|Familial cancer of breast [RCV000231176]|Familial cancer of breast [RCV000765627]|Hereditary cancer-predisposing syndrome [RCV000132037]|Li-Fraumeni syndrome [RCV005359141]|not provided [RCV000766741]|not specified [RCV000120553] Chr22:28734565 [GRCh38]
Chr22:29130553 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.731A>G (p.Lys244Arg) single nucleotide variant CHEK2-related cancer predisposition [RCV005031619]|CHEK2-related disorder [RCV004737206]|Familial cancer of breast [RCV000472251]|Hereditary cancer-predisposing syndrome [RCV000129367]|Hereditary nonpolyposis colon cancer [RCV005359142]|not provided [RCV003114265]|not specified [RCV000120556] Chr22:28711970 [GRCh38]
Chr22:29107958 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) single nucleotide variant Breast and/or ovarian cancer [RCV003149829]|CHEK2-related cancer predisposition [RCV005359143]|CHEK2-related disorder [RCV004529998]|Familial cancer of breast [RCV000460267]|Familial cancer of breast [RCV002498557]|Hereditary cancer-predisposing syndrome [RCV000131968]|not provided [RCV000656832]|not specified [RCV000120557] Chr22:28699893 [GRCh38]
Chr22:29095881 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.1333T>C (p.Tyr445His) single nucleotide variant Familial cancer of breast [RCV000457804]|Hereditary cancer-predisposing syndrome [RCV002381432]|not specified [RCV000120558] Chr22:28695169 [GRCh38]
Chr22:29091157 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) single nucleotide variant Breast and/or ovarian cancer [RCV003149830]|CHEK2-related cancer predisposition [RCV005235008]|Familial cancer of breast [RCV000203747]|Hereditary cancer-predisposing syndrome [RCV000132487]|not provided [RCV000759042]|not specified [RCV000120559] Chr22:28695159 [GRCh38]
Chr22:28695159..28695160 [GRCh38]
Chr22:29091147 [GRCh37]
Chr22:29091147..29091148 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_007194.4(CHEK2):c.792+7A>T single nucleotide variant Familial cancer of breast [RCV001411174]|not provided [RCV001284621] Chr22:28711902 [GRCh38]
Chr22:29107890 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.423del (p.Lys142fs) deletion not provided [RCV001284619] Chr22:28725264 [GRCh38]
Chr22:29121252 [GRCh37]
Chr22:22q12.1		 likely pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_007194.4(CHEK2):c.1113C>G (p.His371Gln) single nucleotide variant Familial cancer of breast [RCV001302776] Chr22:28695856 [GRCh38]
Chr22:29091844 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer) microsatellite Familial cancer of breast [RCV000576500] Chr22:28725323..28725324 [GRCh38]
Chr22:29121311..29121312 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.655G>C (p.Glu219Gln) single nucleotide variant not provided [RCV001284620] Chr22:28719423 [GRCh38]
Chr22:29115411 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.916G>A (p.Gly306Arg) single nucleotide variant Familial cancer of breast [RCV000144594]|Hereditary cancer-predisposing syndrome [RCV002371982]|not provided [RCV002277285] Chr22:28699930 [GRCh38]
Chr22:29095918 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.914A>G (p.Glu305Gly) single nucleotide variant Familial cancer of breast [RCV000144595] Chr22:28699932 [GRCh38]
Chr22:29095920 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.593-3T>C single nucleotide variant Familial cancer of breast [RCV001348946] Chr22:28719488 [GRCh38]
Chr22:29115476 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.590A>G (p.Lys197Arg) single nucleotide variant Familial cancer of breast [RCV001348134] Chr22:28724979 [GRCh38]
Chr22:29120967 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter) single nucleotide variant Familial cancer of breast [RCV003335120]|Hereditary cancer-predisposing syndrome [RCV000130129] Chr22:28695757 [GRCh38]
Chr22:29091745 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.383C>T (p.Pro128Leu) single nucleotide variant Familial cancer of breast [RCV000227657]|Familial prostate cancer [RCV005359228]|Hereditary cancer-predisposing syndrome [RCV000130206]|not provided [RCV004998265] Chr22:28725304 [GRCh38]
Chr22:29121292 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) single nucleotide variant CHEK2-related cancer predisposition [RCV005025212]|Familial cancer of breast [RCV000475981]|Hereditary cancer-predisposing syndrome [RCV000130339]|not provided [RCV000393706]|not specified [RCV003150950] Chr22:28689164 [GRCh38]
Chr22:29085152 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.350G>A (p.Arg117Lys) single nucleotide variant Familial cancer of breast [RCV000534347]|Hereditary cancer-predisposing syndrome [RCV000130380]|not provided [RCV001800433] Chr22:28725337 [GRCh38]
Chr22:29121325 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) microsatellite Breast and colorectal cancer, susceptibility to [RCV000210175]|CHEK2-related cancer predisposition [RCV005365028]|CHEK2-related disorder [RCV004737221]|Familial cancer of breast [RCV000198423]|Hereditary breast ovarian cancer syndrome [RCV000416789]|Hereditary cancer-predisposing syndrome [RCV000130429]|not provided [RCV000212423] Chr22:28725084..28725086 [GRCh38]
Chr22:29121072..29121074 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_007194.4(CHEK2):c.911T>C (p.Met304Thr) single nucleotide variant CHEK2-related disorder [RCV004532562]|Familial cancer of breast [RCV000534707]|Hereditary cancer-predisposing syndrome [RCV000130483]|not provided [RCV000590254]|not specified [RCV001818313] Chr22:28699935 [GRCh38]
Chr22:29095923 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV003448269]|Familial cancer of breast [RCV000206869]|Hereditary breast ovarian cancer syndrome [RCV001175336]|Hereditary cancer-predisposing syndrome [RCV000130486]|Malignant tumor of breast [RCV001355927]|Premature ovarian failure [RCV001270242]|Prostate cancer [RCV001787089]|not provided [RCV000222009] Chr22:28695800 [GRCh38]
Chr22:29091788 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) single nucleotide variant Familial cancer of breast [RCV000197078]|Familial cancer of breast [RCV000764367]|Hereditary cancer-predisposing syndrome [RCV000130543]|not provided [RCV000587712]|not specified [RCV004782245] Chr22:28689143 [GRCh38]
Chr22:29085131 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter) single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV001267682]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004668792]|Familial cancer of breast [RCV000199638]|Hereditary breast ovarian cancer syndrome [RCV002228315]|Hereditary cancer-predisposing syndrome [RCV000130559]|not provided [RCV000377793] Chr22:28734443 [GRCh38]
Chr22:29130431 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.817G>A (p.Glu273Lys) single nucleotide variant Familial cancer of breast [RCV000791974]|Hereditary cancer-predisposing syndrome [RCV000130723] Chr22:28710035 [GRCh38]
Chr22:29106023 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) single nucleotide variant CHEK2-related disorder [RCV004532565]|Endometrial carcinoma [RCV001356295]|Familial cancer of breast [RCV000198345]|Familial cancer of breast [RCV000515236]|Hereditary breast ovarian cancer syndrome [RCV002225433]|Hereditary cancer-predisposing syndrome [RCV000130733]|Predisposition to cancer [RCV005055077]|not provided [RCV000589669]|not specified [RCV000855592] Chr22:28725013 [GRCh38]
Chr22:29121001 [GRCh37]
Chr22:22q12.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1174G>C (p.Ala392Pro) single nucleotide variant Familial cancer of breast [RCV005089643]|Hereditary cancer-predisposing syndrome [RCV000130811] Chr22:28695795 [GRCh38]
Chr22:29091783 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) single nucleotide variant CHEK2-related cancer predisposition [RCV005359246]|CHEK2-related disorder [RCV004737222]|Familial cancer of breast [RCV001084280]|Hereditary breast ovarian cancer syndrome [RCV001030618]|Hereditary cancer-predisposing syndrome [RCV000130825]|not provided [RCV000415925]|not specified [RCV000781307] Chr22:28687932 [GRCh38]
Chr22:29083920 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.176C>A (p.Thr59Lys) single nucleotide variant CHEK2-related cancer predisposition [RCV005025213]|Familial cancer of breast [RCV000469959]|Familial cancer of breast [RCV000765626]|Familial prostate cancer [RCV005359247]|Hereditary cancer-predisposing syndrome [RCV000130842]|not provided [RCV000589927]|not specified [RCV003493455] Chr22:28734546 [GRCh38]
Chr22:29130534 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser) single nucleotide variant CHEK2-related disorder [RCV004737223]|Familial cancer of breast [RCV000206362]|Hereditary cancer-predisposing syndrome [RCV000130856]|Hereditary nonpolyposis colon cancer [RCV005359249]|not provided [RCV000222277]|not specified [RCV001818319] Chr22:28710010 [GRCh38]
Chr22:29105998 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.591del (p.Val198fs) deletion Breast and/or ovarian cancer [RCV003492607]|CHEK2-related disorder [RCV004544296]|Familial cancer of breast [RCV000204563]|Familial cancer of breast [RCV001814065]|Hereditary breast ovarian cancer syndrome [RCV001175504]|Hereditary cancer-predisposing syndrome [RCV000130949]|Inherited breast cancer and ovarian cancer [RCV005237569]|Malignant tumor of breast [RCV001354068]|not provided [RCV000235159] Chr22:28724978 [GRCh38]
Chr22:29120966 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) single nucleotide variant CHEK2-related cancer predisposition [RCV005235039]|Familial cancer of breast [RCV000412125]|Hereditary breast ovarian cancer syndrome [RCV002225438]|Hereditary cancer-predisposing syndrome [RCV000130990]|Malignant tumor of breast [RCV001356135]|not provided [RCV001573826]|not specified [RCV000248875] Chr22:28734470 [GRCh38]
Chr22:29130458 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) single nucleotide variant CHEK2-related cancer predisposition [RCV001292666]|Familial cancer of breast [RCV000456353]|Hereditary cancer-predisposing syndrome [RCV000131011]|Malignant tumor of breast [RCV001354674]|not provided [RCV000481469] Chr22:28696943 [GRCh38]
Chr22:29092931 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.1286A>G (p.Glu429Gly) single nucleotide variant Familial cancer of breast [RCV002512545]|Hereditary cancer-predisposing syndrome [RCV000131182] Chr22:28695216 [GRCh38]
Chr22:29091204 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) single nucleotide variant CHEK2-related disorder [RCV004532568]|Familial cancer of breast [RCV000233502]|Hereditary cancer-predisposing syndrome [RCV000131183]|Li-Fraumeni syndrome [RCV005359253]|not provided [RCV000212416]|not specified [RCV001818320] Chr22:28725259 [GRCh38]
Chr22:29121247 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) single nucleotide variant Breast and/or ovarian cancer [RCV001798448]|CHEK2-related cancer predisposition [RCV005414462]|Familial cancer of breast [RCV000200637]|Hereditary cancer [RCV004700447]|Hereditary cancer-predisposing syndrome [RCV000131200]|Malignant tumor of breast [RCV001357365]|not provided [RCV000588366]|not specified [RCV001174557] Chr22:28734715 [GRCh38]
Chr22:29130703 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) single nucleotide variant Breast and/or ovarian cancer [RCV003492617]|CHEK2-related cancer predisposition [RCV005416111]|Familial cancer of breast [RCV000232903]|Familial cancer of breast [RCV000764379]|Hereditary breast ovarian cancer syndrome [RCV001374553]|Hereditary cancer-predisposing syndrome [RCV000131219]|Malignant tumor of breast [RCV001355624]|not provided [RCV000212445]|not specified [RCV002465532] Chr22:28696960 [GRCh38]
Chr22:29092948 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.61C>A (p.Pro21Thr) single nucleotide variant CHEK2-related disorder [RCV004528858]|Familial cancer of breast [RCV000461003]|Hereditary cancer-predisposing syndrome [RCV000131230]|not provided [RCV000219060] Chr22:28734661 [GRCh38]
Chr22:29130649 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) single nucleotide variant Familial cancer of breast [RCV000231753]|Familial cancer of breast [RCV002483267]|Hereditary cancer-predisposing syndrome [RCV000131287]|Hereditary nonpolyposis colon cancer [RCV005365033]|not provided [RCV000212441]|not specified [RCV002271417] Chr22:28699915 [GRCh38]
Chr22:29095903 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.449T>G (p.Val150Gly) single nucleotide variant Familial cancer of breast [RCV001057076]|Hereditary cancer-predisposing syndrome [RCV000131390] Chr22:28725120 [GRCh38]
Chr22:29121108 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) single nucleotide variant CHEK2-related cancer predisposition [RCV005414464]|CHEK2-related disorder [RCV004737224]|Familial cancer of breast [RCV000204676]|Hereditary cancer-predisposing syndrome [RCV000131415]|Hereditary nonpolyposis colon cancer [RCV005359264]|Predisposition to cancer [RCV001543106]|not provided [RCV000588152]|not specified [RCV003330506] Chr22:28719415 [GRCh38]
Chr22:29115403 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.319+2T>A single nucleotide variant Breast cancer, susceptibility to [RCV001258067]|Familial cancer of breast [RCV000515447]|Familial cancer of breast [RCV000545158]|Hereditary cancer-predisposing syndrome [RCV000131434]|Malignant tumor of breast [RCV003492621]|not provided [RCV000212411] Chr22:28734401 [GRCh38]
Chr22:29130389 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) single nucleotide variant CHEK2-related cancer predisposition [RCV005359267]|Familial cancer of breast [RCV000233973]|Familial cancer of breast [RCV002492512]|Hereditary cancer-predisposing syndrome [RCV000131443]|not provided [RCV000588204]|not specified [RCV001290447] Chr22:28687947 [GRCh38]
Chr22:29083935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1567C>G (p.Arg523Gly) single nucleotide variant Familial cancer of breast [RCV000466042]|Hereditary cancer-predisposing syndrome [RCV000131451] Chr22:28687962 [GRCh38]
Chr22:29083950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.497A>G (p.Asn166Ser) single nucleotide variant CHEK2-related disorder [RCV004737225]|Familial cancer of breast [RCV000197451]|Hereditary breast ovarian cancer syndrome [RCV005251078]|Hereditary cancer-predisposing syndrome [RCV000131455]|not provided [RCV002262750] Chr22:28725072 [GRCh38]
Chr22:29121060 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1003G>A (p.Val335Met) single nucleotide variant Familial cancer of breast [RCV000469070]|Hereditary cancer-predisposing syndrome [RCV000131459] Chr22:28699843 [GRCh38]
Chr22:29095831 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.949A>G (p.Lys317Glu) single nucleotide variant Breast and/or ovarian cancer [RCV001798451]|Familial cancer of breast [RCV000226721]|Hereditary cancer-predisposing syndrome [RCV000131462]|not provided [RCV000486217] Chr22:28699897 [GRCh38]
Chr22:29095885 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.704A>G (p.Lys235Arg) single nucleotide variant Familial cancer of breast [RCV000692534]|Hereditary cancer-predisposing syndrome [RCV000131466]|not provided [RCV000221976] Chr22:28711997 [GRCh38]
Chr22:29107985 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1012C>T (p.Leu338Phe) single nucleotide variant CHEK2-related cancer predisposition [RCV005359272]|Familial cancer of breast [RCV000199485]|Hereditary cancer-predisposing syndrome [RCV000131506]|not provided [RCV000487089] Chr22:28696984 [GRCh38]
Chr22:29092972 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) single nucleotide variant Familial cancer of breast [RCV000199375]|Hereditary cancer-predisposing syndrome [RCV000131547]|Predisposition to cancer [RCV002292378]|not provided [RCV000759047]|not specified [RCV001192412] Chr22:28703509 [GRCh38]
Chr22:29099497 [GRCh37]
Chr22:22q12.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) single nucleotide variant CHEK2-related disorder [RCV004528859]|Familial cancer of breast [RCV000203702]|Hereditary breast ovarian cancer syndrome [RCV004760393]|Hereditary cancer-predisposing syndrome [RCV000131571]|not provided [RCV000586318]|not specified [RCV001175355] Chr22:28689188 [GRCh38]
Chr22:29085176 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) single nucleotide variant CHEK2-related cancer predisposition [RCV003389239]|CHEK2-related cancer predisposition [RCV005025215]|CHEK2-related disorder [RCV004737226]|Familial cancer of breast [RCV000199653]|Familial cancer of breast [RCV000791342]|Hereditary breast ovarian cancer syndrome [RCV000212433]|Hereditary cancer-predisposing syndrome [RCV000131577]|Predisposition to cancer [RCV003153427]|not provided [RCV000586622] Chr22:28711994 [GRCh38]
Chr22:29107982 [GRCh37]
Chr22:22q12.1		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.958A>G (p.Lys320Glu) single nucleotide variant Familial cancer of breast [RCV000460242]|Hereditary cancer-predisposing syndrome [RCV000131595]|not provided [RCV003441753] Chr22:28699888 [GRCh38]
Chr22:29095876 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) single nucleotide variant CHEK2-related cancer predisposition [RCV005365035]|Familial cancer of breast [RCV000198676]|Familial cancer of breast [RCV000764369]|Hereditary cancer [RCV004700451]|Hereditary cancer-predisposing syndrome [RCV000131614]|not provided [RCV000214263]|not specified [RCV001251282] Chr22:28689167 [GRCh38]
Chr22:29085155 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV000210071]|Breast carcinoma [RCV001554290]|CHEK2-related cancer predisposition [RCV004776433]|CHEK2-related cancer predisposition [RCV005025216]|Familial cancer of breast [RCV000200030]|Hereditary breast ovarian cancer syndrome [RCV004764770]|Hereditary cancer-predisposing syndrome [RCV000131700]|Hereditary nonpolyposis colon cancer [RCV005359279]|Malignant tumor of breast [RCV003987371]|Predisposition to cancer [RCV002291570]|not provided [RCV000212424] Chr22:28725070 [GRCh38]
Chr22:29121058 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) single nucleotide variant Breast and/or ovarian cancer [RCV003492628]|CHEK2-related cancer predisposition [RCV004776434]|CHEK2-related disorder [RCV004532574]|Familial cancer of breast [RCV000228975]|Familial cancer of breast [RCV000515410]|Hereditary cancer-predisposing syndrome [RCV000131715]|Malignant tumor of breast [RCV001356488]|not provided [RCV000587346]|not specified [RCV000855593] Chr22:28695753 [GRCh38]
Chr22:29091741 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) single nucleotide variant CHEK2-related cancer predisposition [RCV005365036]|Familial cancer of breast [RCV000469852]|Hereditary cancer-predisposing syndrome [RCV000131748]|not provided [RCV000212473]|not specified [RCV003155082] Chr22:28689151 [GRCh38]
Chr22:29085139 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.445G>A (p.Glu149Lys) single nucleotide variant Familial cancer of breast [RCV000819104]|Hereditary cancer-predisposing syndrome [RCV000131781] Chr22:28725124 [GRCh38]
Chr22:29121112 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg) single nucleotide variant Familial cancer of breast [RCV001222751]|Hereditary cancer-predisposing syndrome [RCV000131787]|not provided [RCV000287814]|not specified [RCV002307405] Chr22:28696983 [GRCh38]
Chr22:29092971 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1462-2A>G single nucleotide variant Familial cancer of breast [RCV000555386]|Hereditary cancer-predisposing syndrome [RCV000131803]|not provided [RCV003884358] Chr22:28689217 [GRCh38]
Chr22:29085205 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) deletion Breast and/or ovarian cancer [RCV001798458]|CHEK2-related disorder [RCV004532577]|Familial cancer of breast [RCV000205272]|Familial prostate cancer [RCV005359291]|Gastric cancer [RCV003162590]|Hereditary breast ovarian cancer syndrome [RCV003483509]|Hereditary cancer-predisposing syndrome [RCV000132111]|not provided [RCV000212478]|not specified [RCV002271420] Chr22:28687962 [GRCh38]
Chr22:29083950 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) single nucleotide variant Breast and/or ovarian cancer [RCV003149911]|Familial cancer of breast [RCV001086106]|Hereditary breast ovarian cancer syndrome [RCV001030623]|Hereditary cancer-predisposing syndrome [RCV000132141]|Malignant tumor of breast [RCV001355781]|not provided [RCV000215450]|not specified [RCV000780184] Chr22:28695752 [GRCh38]
Chr22:29091740 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs) duplication Familial cancer of breast [RCV001064635]|Hereditary cancer-predisposing syndrome [RCV000132173] Chr22:28689173..28689174 [GRCh38]
Chr22:29085161..29085162 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV005414460]|CHEK2-related disorder [RCV004737213]|Familial cancer of breast [RCV000232015]|Familial cancer of breast [RCV002505102]|Gastric cancer [RCV003162571]|Hereditary breast ovarian cancer syndrome [RCV002225419]|Hereditary cancer-predisposing syndrome [RCV000128901]|Li-Fraumeni syndrome [RCV005406834]|Malignant tumor of breast [RCV001354537]|not provided [RCV000215973]|not specified [RCV001002335] Chr22:28734439 [GRCh38]
Chr22:29130427 [GRCh37]
Chr22:22q12.1		 pathogenic|not provided
NM_007194.4(CHEK2):c.444+3A>G single nucleotide variant CHEK2-related disorder [RCV004737214]|Familial cancer of breast [RCV000231163]|Hereditary cancer-predisposing syndrome [RCV000128944]|Malignant tumor of breast [RCV001355288]|not provided [RCV000578769] Chr22:28725240 [GRCh38]
Chr22:29121228 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.684T>C (p.Ser228=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000128956] Chr22:28712017 [GRCh38]
Chr22:29108005 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1542+11T>A single nucleotide variant CHEK2-related cancer predisposition [RCV005235035]|Familial cancer of breast [RCV000410734]|Hereditary breast ovarian cancer syndrome [RCV002225422]|Hereditary cancer-predisposing syndrome [RCV000129000]|Malignant tumor of breast [RCV001357010]|not provided [RCV000985701]|not specified [RCV000679677] Chr22:28689124 [GRCh38]
Chr22:29085112 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.661A>G (p.Ile221Val) single nucleotide variant CHEK2-related disorder [RCV004532543]|Familial cancer of breast [RCV000206722]|Hereditary cancer-predisposing syndrome [RCV000129028]|not provided [RCV000481035] Chr22:28719417 [GRCh38]
Chr22:29115405 [GRCh37]
Chr22:22q12.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) single nucleotide variant Breast and/or ovarian cancer [RCV003492584]|Familial cancer of breast [RCV000230444]|Hereditary cancer [RCV005229957]|Hereditary cancer-predisposing syndrome [RCV000129111]|Malignant tumor of breast [RCV001354094]|not provided [RCV000656836]|not specified [RCV001192414] Chr22:28687968 [GRCh38]
Chr22:29083956 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.247del (p.Gln83fs) deletion Breast and/or ovarian cancer [RCV003149913]|Familial cancer of breast [RCV000204969]|Hereditary breast ovarian cancer syndrome [RCV003987373]|Hereditary cancer-predisposing syndrome [RCV000132293]|not provided [RCV000220709] Chr22:28734475 [GRCh38]
Chr22:29130463 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) single nucleotide variant CHEK2-related cancer predisposition [RCV005414465]|Familial cancer of breast [RCV001048097]|Hereditary breast ovarian cancer syndrome [RCV001030622]|Hereditary cancer-predisposing syndrome [RCV000132369]|not specified [RCV001193683] Chr22:28695237 [GRCh38]
Chr22:29091225 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) single nucleotide variant Familial cancer of breast [RCV000203988]|Hereditary cancer-predisposing syndrome [RCV000132380]|not provided [RCV000212431]|not specified [RCV003235060] Chr22:28719470 [GRCh38]
Chr22:29115458 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1153T>C (p.Cys385Arg) single nucleotide variant CHEK2-related disorder [RCV004532582]|Familial cancer of breast [RCV000205294]|Hereditary cancer-predisposing syndrome [RCV000132390]|not provided [RCV000216008]|not specified [RCV004782248] Chr22:28695816 [GRCh38]
Chr22:29091804 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.445-1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000132412] Chr22:28725125 [GRCh38]
Chr22:29121113 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1096-4T>C single nucleotide variant Familial cancer of breast [RCV000412166]|Hereditary cancer-predisposing syndrome [RCV000132429]|not provided [RCV000590391]|not specified [RCV005406842] Chr22:28695877 [GRCh38]
Chr22:29091865 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.592+3A>T single nucleotide variant Breast carcinoma [RCV001554293]|CHEK2-related cancer predisposition [RCV004760396]|CHEK2-related cancer predisposition [RCV004796033]|CHEK2-related disorder [RCV004532583]|Familial cancer of breast [RCV000228472]|Familial cancer of breast [RCV001171462]|Hereditary breast ovarian cancer syndrome [RCV002468934]|Hereditary cancer-predisposing syndrome [RCV000132447]|Malignant tumor of breast [RCV004551270]|Prostate cancer [RCV003334383]|not provided [RCV000656830] Chr22:28724974 [GRCh38]
Chr22:29120962 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_007194.4(CHEK2):c.*5C>T single nucleotide variant Familial cancer of breast [RCV005246661]|Hereditary cancer-predisposing syndrome [RCV000129171]|not provided [RCV001357135] Chr22:28687892 [GRCh38]
Chr22:29083880 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) single nucleotide variant Breast and/or ovarian cancer [RCV003149888]|Familial cancer of breast [RCV000536468]|Hereditary cancer-predisposing syndrome [RCV000129197]|not provided [RCV000212420] Chr22:28725118 [GRCh38]
Chr22:29121106 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) single nucleotide variant Familial cancer of breast [RCV000227256]|Familial cancer of breast [RCV000765620]|Hereditary breast ovarian cancer syndrome [RCV001030685]|Hereditary cancer-predisposing syndrome [RCV000129204]|Hereditary nonpolyposis colon cancer [RCV005359200]|not provided [RCV000214585]|not specified [RCV001201286] Chr22:28711946 [GRCh38]
Chr22:29107934 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) single nucleotide variant CHEK2-related cancer predisposition [RCV001292616]|CHEK2-related cancer predisposition [RCV005031636]|CHEK2-related disorder [RCV004737215]|Familial cancer of breast [RCV000205087]|Hereditary cancer-predisposing syndrome [RCV000129205]|not provided [RCV000590667]|not specified [RCV001731481] Chr22:28711974 [GRCh38]
Chr22:29107962 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) single nucleotide variant Breast and/or ovarian cancer [RCV001798435]|CHEK2-related cancer predisposition [RCV005003487]|CHEK2-related disorder [RCV004528849]|Familial cancer of breast [RCV000206213]|Hereditary cancer-predisposing syndrome [RCV000129213]|Li-Fraumeni syndrome [RCV005365016]|not provided [RCV000590757]|not specified [RCV000212468] Chr22:28694042 [GRCh38]
Chr22:29090030 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) single nucleotide variant CHEK2-related disorder [RCV004737216]|Familial cancer of breast [RCV000227000]|Familial cancer of breast [RCV000764375]|Hereditary cancer-predisposing syndrome [RCV000129242]|Malignant tumor of breast [RCV001354869]|not provided [RCV000212452]|not specified [RCV000781303] Chr22:28695828 [GRCh38]
Chr22:29091816 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.73G>A (p.Val25Ile) single nucleotide variant Familial cancer of breast [RCV000690552]|Familial prostate cancer [RCV005359203]|Hereditary cancer-predisposing syndrome [RCV000129252]|not provided [RCV003237736]|not specified [RCV003320459] Chr22:28734649 [GRCh38]
Chr22:29130637 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) single nucleotide variant Breast and/or ovarian cancer [RCV003492589]|CHEK2-related cancer predisposition [RCV005025207]|CHEK2-related disorder [RCV004532549]|Familial cancer of breast [RCV000228412]|Hereditary cancer-predisposing syndrome [RCV000129321]|not provided [RCV000212479]|not specified [RCV003235052] Chr22:28687962 [GRCh38]
Chr22:29083950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) single nucleotide variant CHEK2-related disorder [RCV004528850]|Familial cancer of breast [RCV000206734]|Familial cancer of breast [RCV002483259]|Hereditary breast ovarian cancer syndrome [RCV004760388]|Hereditary cancer-predisposing syndrome [RCV000129382]|Malignant tumor of breast [RCV001356630]|not provided [RCV000212464]|not specified [RCV000781308] Chr22:28694070 [GRCh38]
Chr22:29090058 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1596del (p.Thr533fs) deletion CHEK2-related cancer predisposition [RCV005394470]|Familial cancer of breast [RCV000205993]|Hereditary cancer-predisposing syndrome [RCV000129505]|not provided [RCV000235161] Chr22:28687933 [GRCh38]
Chr22:29083921 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) single nucleotide variant CHEK2-related cancer predisposition [RCV003493452]|CHEK2-related cancer predisposition [RCV005025208]|Familial cancer of breast [RCV000206654]|Hereditary breast ovarian cancer syndrome [RCV003483495]|Hereditary cancer-predisposing syndrome [RCV000129508]|Malignant tumor of breast [RCV001357703]|not provided [RCV000589481]|not specified [RCV001175352] Chr22:28695794 [GRCh38]
Chr22:29091782 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.444+5G>A single nucleotide variant Familial cancer of breast [RCV000206661]|Hereditary cancer-predisposing syndrome [RCV000129580] Chr22:28725238 [GRCh38]
Chr22:29121226 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.609T>G (p.Asp203Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000129584]|not specified [RCV000781296] Chr22:28719469 [GRCh38]
Chr22:29115457 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter) single nucleotide variant Familial cancer of breast [RCV000195906]|Hereditary cancer-predisposing syndrome [RCV000129647]|not provided [RCV003321510] Chr22:28734571 [GRCh38]
Chr22:29130559 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1254T>A (p.Phe418Leu) single nucleotide variant Familial cancer of breast [RCV001366669]|Hereditary cancer-predisposing syndrome [RCV001180800] Chr22:28695715 [GRCh38]
Chr22:29091703 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) single nucleotide variant CHEK2-related cancer predisposition [RCV005025209]|Familial cancer of breast [RCV000461401]|Hereditary breast ovarian cancer syndrome [RCV003993818]|Hereditary cancer-predisposing syndrome [RCV000129786]|not provided [RCV000480654]|not specified [RCV000780181] Chr22:28725084 [GRCh38]
Chr22:29121072 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) single nucleotide variant CHEK2-related cancer predisposition [RCV005414461]|Familial cancer of breast [RCV000206197]|Familial cancer of breast [RCV002492498]|Hereditary cancer-predisposing syndrome [RCV000129822]|Li-Fraumeni syndrome [RCV005359215]|not provided [RCV000235158]|not specified [RCV003320460] Chr22:28725253 [GRCh38]
Chr22:29121241 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.307T>C (p.Phe103Leu) single nucleotide variant Familial cancer of breast [RCV000204150]|Hereditary cancer-predisposing syndrome [RCV000129825]|not provided [RCV005416327]|not specified [RCV001800430] Chr22:28734415 [GRCh38]
Chr22:29130403 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+1G>A single nucleotide variant Familial cancer of breast [RCV000546023]|Hereditary cancer-predisposing syndrome [RCV000129866]|not provided [RCV002225428] Chr22:28703504 [GRCh38]
Chr22:29099492 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) single nucleotide variant Familial cancer of breast [RCV000763478]|Familial cancer of breast [RCV001247758]|Hereditary cancer-predisposing syndrome [RCV000129876]|Predisposition to cancer [RCV005055075]|not provided [RCV004998264] Chr22:28734506 [GRCh38]
Chr22:29130494 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln) single nucleotide variant Familial cancer of breast [RCV000462062]|Hereditary cancer-predisposing syndrome [RCV000129884]|not provided [RCV000212481]|not specified [RCV003323409] Chr22:28687938 [GRCh38]
Chr22:29083926 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q12.1(chr22:27972484-28760350)x1 copy number loss See cases [RCV000135356] Chr22:27972484..28760350 [GRCh38]
Chr22:28368472..29156338 [GRCh37]
Chr22:26698472..27486338 [NCBI36]
Chr22:22q12.1		 pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.1(chr22:28669349-28727009)x3 copy number gain See cases [RCV000142125] Chr22:28669349..28727009 [GRCh38]
Chr22:29065337..29122997 [GRCh37]
Chr22:27395337..27452997 [NCBI36]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1 copy number loss See cases [RCV000143415] Chr22:26451042..31451926 [GRCh38]
Chr22:26847008..31847912 [GRCh37]
Chr22:25177008..30177912 [NCBI36]
Chr22:22q12.1-12.2		 pathogenic
GRCh38/hg38 22q12.1(chr22:28649631-28727009)x3 copy number gain See cases [RCV000143717] Chr22:28649631..28727009 [GRCh38]
Chr22:29045619..29122997 [GRCh37]
Chr22:27375619..27452997 [NCBI36]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.689C>T (p.Ala230Val) single nucleotide variant CHEK2-related cancer predisposition [RCV005031673]|Familial cancer of breast [RCV001850265]|Hereditary cancer-predisposing syndrome [RCV001025772]|not provided [RCV000160427] Chr22:28712012 [GRCh38]
Chr22:29108000 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh38/hg38 22q12.1(chr22:28441053-28819615)x3 copy number gain See cases [RCV000139107] Chr22:28441053..28819615 [GRCh38]
Chr22:28837041..29215603 [GRCh37]
Chr22:27167041..27545603 [NCBI36]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) single nucleotide variant Familial cancer of breast [RCV000198019]|Hereditary cancer-predisposing syndrome [RCV000160423]|not provided [RCV000212413] Chr22:28725365 [GRCh38]
Chr22:29121353 [GRCh37]
Chr22:22q12.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.458A>G (p.Lys153Arg) single nucleotide variant Familial cancer of breast [RCV002515114]|not provided [RCV000160424] Chr22:28725111 [GRCh38]
Chr22:29121099 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) single nucleotide variant Familial cancer of breast [RCV000467058]|Hereditary cancer-predisposing syndrome [RCV000571351]|not provided [RCV000160425]|not specified [RCV000780180] Chr22:28725087 [GRCh38]
Chr22:29121075 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) single nucleotide variant Breast and/or ovarian cancer [RCV001270937]|CHEK2-related cancer predisposition [RCV003493466]|Familial cancer of breast [RCV000475670]|Hereditary cancer-predisposing syndrome [RCV000213298]|not provided [RCV000160426] Chr22:28725066 [GRCh38]
Chr22:29121054 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.787G>C (p.Glu263Gln) single nucleotide variant Familial cancer of breast [RCV000793724]|Hereditary cancer-predisposing syndrome [RCV000575022]|not provided [RCV000160428]|not specified [RCV004596079] Chr22:28711914 [GRCh38]
Chr22:29107902 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.793-1G>A single nucleotide variant CHEK2-related cancer predisposition [RCV005394552]|Familial cancer of breast [RCV000464029]|Familial cancer of breast [RCV002498796]|Hereditary breast ovarian cancer syndrome [RCV005055649]|Hereditary cancer-predisposing syndrome [RCV000214915]|not provided [RCV000160429] Chr22:28710060 [GRCh38]
Chr22:29106048 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) single nucleotide variant CHEK2-related cancer predisposition [RCV005414469]|Familial cancer of breast [RCV000203780]|Hereditary cancer-predisposing syndrome [RCV000160430]|Hereditary nonpolyposis colon cancer [RCV005359363]|Predisposition to cancer [RCV004786437]|not provided [RCV000656833]|not specified [RCV001844056] Chr22:28696959 [GRCh38]
Chr22:29092947 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) single nucleotide variant Familial cancer of breast [RCV000205583]|Hereditary cancer-predisposing syndrome [RCV000221549]|not provided [RCV000160431] Chr22:28696957 [GRCh38]
Chr22:29092945 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1045A>G (p.Lys349Glu) single nucleotide variant Familial cancer of breast [RCV000557927]|Hereditary cancer-predisposing syndrome [RCV000574744]|not provided [RCV000160432] Chr22:28696951 [GRCh38]
Chr22:29092939 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1136C>G (p.Ser379Cys) single nucleotide variant Familial cancer of breast [RCV000461871]|Hereditary cancer-predisposing syndrome [RCV002444665]|not provided [RCV000160433] Chr22:28695833 [GRCh38]
Chr22:29091821 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1178C>T (p.Pro393Leu) single nucleotide variant Familial cancer of breast [RCV000704401]|Familial cancer of breast [RCV000764374]|Hereditary cancer-predisposing syndrome [RCV000576132]|not provided [RCV000160434] Chr22:28695791 [GRCh38]
Chr22:29091779 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) single nucleotide variant CHEK2-related disorder [RCV004737254]|Familial cancer of breast [RCV000465621]|Familial cancer of breast [RCV003483527]|Hereditary cancer-predisposing syndrome [RCV000567169]|Hereditary nonpolyposis colon cancer [RCV005359364]|not provided [RCV000588012] Chr22:28695237 [GRCh38]
Chr22:29091225 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.1267G>T (p.Gly423Trp) single nucleotide variant Familial cancer of breast [RCV001058998]|Hereditary cancer-predisposing syndrome [RCV005318336]|not provided [RCV000160436] Chr22:28695235 [GRCh38]
Chr22:29091223 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1405G>A (p.Val469Met) single nucleotide variant Familial cancer of breast [RCV001850266]|Hereditary cancer-predisposing syndrome [RCV005328218]|not provided [RCV000160438] Chr22:28694088 [GRCh38]
Chr22:29090076 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) single nucleotide variant Familial cancer of breast [RCV000538234]|Hereditary cancer-predisposing syndrome [RCV000160439]|not provided [RCV000212467] Chr22:28694043 [GRCh38]
Chr22:29090031 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) single nucleotide variant Familial cancer of breast [RCV000205886]|Hereditary cancer-predisposing syndrome [RCV000213437]|Malignant tumor of breast [RCV001356202]|not provided [RCV000160440]|not specified [RCV002265635] Chr22:28689176 [GRCh38]
Chr22:29085164 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) single nucleotide variant Familial cancer of breast [RCV000476991]|Hereditary breast ovarian cancer syndrome [RCV001030619]|Hereditary cancer-predisposing syndrome [RCV000160441]|not provided [RCV000212471]|not specified [RCV001193688] Chr22:28689164 [GRCh38]
Chr22:29085152 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) single nucleotide variant Familial cancer of breast [RCV000536005]|Hereditary cancer-predisposing syndrome [RCV000218861]|not provided [RCV000160442]|not specified [RCV001824646] Chr22:28687926 [GRCh38]
Chr22:29083914 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-10C>T single nucleotide variant not provided [RCV000160443] Chr22:28741772 [GRCh38]
Chr22:29137760 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.146C>G (p.Ser49Cys) single nucleotide variant Familial cancer of breast [RCV000539309]|Hereditary cancer-predisposing syndrome [RCV000562294]|not provided [RCV000160444] Chr22:28734576 [GRCh38]
Chr22:29130564 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) single nucleotide variant Familial cancer of breast [RCV000197274]|Familial cancer of breast [RCV000515427]|Hereditary cancer-predisposing syndrome [RCV000219585]|not provided [RCV000160445]|not specified [RCV001193687] Chr22:28734552 [GRCh38]
Chr22:29130540 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.196G>A (p.Val66Met) single nucleotide variant Familial cancer of breast [RCV000234730]|Hereditary cancer-predisposing syndrome [RCV001013876]|not provided [RCV000160446] Chr22:28734526 [GRCh38]
Chr22:29130514 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.277T>C (p.Trp93Arg) single nucleotide variant Familial cancer of breast [RCV000205700]|Hereditary cancer-predisposing syndrome [RCV000160447]|Malignant tumor of breast [RCV001354516]|not provided [RCV000212409] Chr22:28734445 [GRCh38]
Chr22:29130433 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319+5G>T single nucleotide variant CHEK2-related cancer predisposition [RCV005025242]|Familial cancer of breast [RCV001350944]|not provided [RCV000160448] Chr22:28734398 [GRCh38]
Chr22:29130386 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_007194.4(CHEK2):c.405del (p.Lys135fs) deletion Familial cancer of breast [RCV000206058]|Hereditary cancer-predisposing syndrome [RCV000567447]|not provided [RCV000160449] Chr22:28725282 [GRCh38]
Chr22:29121270 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) duplication CHEK2-related cancer predisposition [RCV005394553]|CHEK2-related cancer predisposition [RCV005414470]|CHEK2-related disorder [RCV004535041]|Familial cancer of breast [RCV000473927]|Hereditary cancer-predisposing syndrome [RCV000160450]|not provided [RCV000212460] Chr22:28695133..28695134 [GRCh38]
Chr22:29091121..29091122 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV005414471]|Congenital heart defects, multiple types, 3 [RCV001007871]|Familial cancer of breast [RCV000229303]|Familial cancer of breast [RCV000763477]|Gastric cancer [RCV003162676]|Hereditary breast ovarian cancer syndrome [RCV001526967]|Hereditary cancer-predisposing syndrome [RCV000160452]|not provided [RCV000254656] Chr22:28725278 [GRCh38]
Chr22:29121266 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter) single nucleotide variant Familial cancer of breast [RCV000559596]|Hereditary cancer-predisposing syndrome [RCV001804883]|not provided [RCV000160453] Chr22:28695146 [GRCh38]
Chr22:29091134 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.415T>G (p.Tyr139Asp) single nucleotide variant Familial cancer of breast [RCV001322030]|Hereditary cancer-predisposing syndrome [RCV001021975]|not provided [RCV000160454] Chr22:28725272 [GRCh38]
Chr22:29121260 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.541C>G (p.Arg181Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004948198]|not provided [RCV000160455] Chr22:28725028 [GRCh38]
Chr22:29121016 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.598G>A (p.Val200Ile) single nucleotide variant Familial cancer of breast [RCV000458835]|Hereditary cancer-predisposing syndrome [RCV000570974]|not provided [RCV000160456] Chr22:28719480 [GRCh38]
Chr22:29115468 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser) single nucleotide variant Familial cancer of breast [RCV000230102]|Familial cancer of breast [RCV000765617]|Hereditary cancer-predisposing syndrome [RCV000160457]|not provided [RCV000212444] Chr22:28696972 [GRCh38]
Chr22:29092960 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe) single nucleotide variant Familial cancer of breast [RCV000705064]|Hereditary cancer-predisposing syndrome [RCV001017370]|not provided [RCV000160458] Chr22:28695854 [GRCh38]
Chr22:29091842 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1260-10C>G single nucleotide variant Breast and/or ovarian cancer [RCV003149974]|Familial cancer of breast [RCV000199374]|Hereditary cancer-predisposing syndrome [RCV000581114]|not provided [RCV001528944]|not specified [RCV000160459] Chr22:28695252 [GRCh38]
Chr22:29091240 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.1462-7C>G single nucleotide variant Breast and/or ovarian cancer [RCV001798551]|CHEK2-related cancer predisposition [RCV005394554]|Familial cancer of breast [RCV000203819]|Hereditary cancer-predisposing syndrome [RCV000776283]|not provided [RCV002510799]|not specified [RCV000160460] Chr22:28689222 [GRCh38]
Chr22:29085210 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.3:c.-10_c.-9insC insertion Hereditary cancer-predisposing syndrome [RCV000160451] Chr22:22q12.1 uncertain significance
NM_007194.4(CHEK2):c.*2dup duplication Familial cancer of breast [RCV005246708]|Hereditary cancer-predisposing syndrome [RCV000164412]|Hereditary nonpolyposis colon cancer [RCV005359472]|not provided [RCV001675647]|not specified [RCV001193682] Chr22:28687894..28687895 [GRCh38]
Chr22:29083882..29083883 [GRCh37]
Chr22:22q12.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.757A>G (p.Lys253Glu) single nucleotide variant Familial cancer of breast [RCV000635790]|Hereditary cancer-predisposing syndrome [RCV000164415]|not provided [RCV001753556] Chr22:28711944 [GRCh38]
Chr22:29107932 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1260-1G>A single nucleotide variant CHEK2-related cancer predisposition [RCV005414472]|Familial cancer of breast [RCV000698566]|Hereditary breast ovarian cancer syndrome [RCV005411360]|Hereditary cancer-predisposing syndrome [RCV000164426]|not specified [RCV003320461] Chr22:28695243 [GRCh38]
Chr22:29091231 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.775G>A (p.Gly259Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164454] Chr22:28711926 [GRCh38]
Chr22:29107914 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.902del (p.Leu301fs) deletion CHEK2-related cancer predisposition [RCV005025255]|Colorectal cancer [RCV002463654]|Familial cancer of breast [RCV000576741]|Hereditary cancer-predisposing syndrome [RCV000164458]|not provided [RCV000479231] Chr22:28703511 [GRCh38]
Chr22:29099499 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.846+5G>T single nucleotide variant Familial cancer of breast [RCV001850299]|Hereditary cancer-predisposing syndrome [RCV000164475] Chr22:28710001 [GRCh38]
Chr22:29105989 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) deletion Familial cancer of breast [RCV000226984]|Hereditary cancer-predisposing syndrome [RCV000164545]|not provided [RCV000482135] Chr22:28689188 [GRCh38]
Chr22:29085176 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln) single nucleotide variant Familial cancer of breast [RCV000456536]|Hereditary cancer-predisposing syndrome [RCV000164598]|Li-Fraumeni syndrome [RCV005359483]|Predisposition to cancer [RCV002254686]|not provided [RCV001800484]|not specified [RCV002281981] Chr22:28687967 [GRCh38]
Chr22:29083955 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1494T>C (p.Leu498=) single nucleotide variant Familial cancer of breast [RCV000230884]|Hereditary cancer-predisposing syndrome [RCV000164612]|not specified [RCV002465548] Chr22:28689183 [GRCh38]
Chr22:29085171 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter) single nucleotide variant Familial cancer of breast [RCV000532130]|Hereditary cancer-predisposing syndrome [RCV000164779]|not provided [RCV000424411] Chr22:28696985 [GRCh38]
Chr22:29092973 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1097T>C (p.Ile366Thr) single nucleotide variant Familial cancer of breast [RCV001300412]|Hereditary cancer-predisposing syndrome [RCV000164815] Chr22:28695872 [GRCh38]
Chr22:29091860 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1182A>T (p.Glu394Asp) single nucleotide variant Familial cancer of breast [RCV000556493]|Hereditary cancer-predisposing syndrome [RCV000164852]|not provided [RCV004589758] Chr22:28695787 [GRCh38]
Chr22:29091775 [GRCh37]
Chr22:22q12.1		 uncertain significance
NG_008150.2(CHEK2):g.4991A>G single nucleotide variant not provided [RCV000114760] Chr22:28741876 [GRCh38]
Chr22:29137864 [GRCh37]
Chr22:22q12.1		 not provided
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV005414476]|Familial cancer of breast [RCV000200524]|Hereditary cancer-predisposing syndrome [RCV000166779]|Malignant tumor of breast [RCV001357581]|not provided [RCV000657065] Chr22:28712013 [GRCh38]
Chr22:29108001 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.664A>G (p.Met222Val) single nucleotide variant Familial cancer of breast [RCV000204804]|Hereditary cancer-predisposing syndrome [RCV000166790]|not provided [RCV002273967] Chr22:28719414 [GRCh38]
Chr22:29115402 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.569C>T (p.Ala190Val) single nucleotide variant Familial cancer of breast [RCV000688703]|Hereditary cancer-predisposing syndrome [RCV000166803]|not provided [RCV001531540] Chr22:28725000 [GRCh38]
Chr22:29120988 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr) single nucleotide variant Familial cancer of breast [RCV000525941]|Hereditary cancer-predisposing syndrome [RCV000166812]|not provided [RCV000481159]|not specified [RCV001804895] Chr22:28694046 [GRCh38]
Chr22:29090034 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.889T>G (p.Tyr297Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000166914] Chr22:28703524 [GRCh38]
Chr22:29099512 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.32A>C (p.Gln11Pro) single nucleotide variant CHEK2-related cancer predisposition [RCV005025257]|Familial cancer of breast [RCV000558452]|Hereditary cancer-predisposing syndrome [RCV000164888] Chr22:28734690 [GRCh38]
Chr22:29130678 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1453T>C (p.Trp485Arg) single nucleotide variant Familial cancer of breast [RCV001850308]|Hereditary cancer-predisposing syndrome [RCV000164961] Chr22:28694040 [GRCh38]
Chr22:29090028 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.359G>A (p.Ser120Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164963]|not provided [RCV000485288] Chr22:28725328 [GRCh38]
Chr22:29121316 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909G>C (p.Leu303Phe) single nucleotide variant Familial cancer of breast [RCV000804316]|Hereditary cancer-predisposing syndrome [RCV000164976]|not provided [RCV000483894] Chr22:28699937 [GRCh38]
Chr22:29095925 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs) duplication Familial cancer of breast [RCV001215060]|Hereditary breast ovarian cancer syndrome [RCV001201228]|Hereditary cancer-predisposing syndrome [RCV000164995]|Hereditary nonpolyposis colon cancer [RCV005359492]|not provided [RCV003477612] Chr22:28719413..28719414 [GRCh38]
Chr22:29115401..29115402 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His) single nucleotide variant Familial cancer of breast [RCV000818452]|Hereditary cancer-predisposing syndrome [RCV000167008]|not provided [RCV002254913]|not specified [RCV000781297] Chr22:28696983 [GRCh38]
Chr22:29092971 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.683+1G>T single nucleotide variant Familial cancer of breast [RCV000204794]|Hereditary cancer-predisposing syndrome [RCV000167053]|Malignant tumor of breast [RCV001358419]|not provided [RCV000216702] Chr22:28719394 [GRCh38]
Chr22:29115382 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.282T>C (p.Ala94=) single nucleotide variant Familial cancer of breast [RCV002053972]|Hereditary cancer-predisposing syndrome [RCV000165009] Chr22:28734440 [GRCh38]
Chr22:29130428 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1563del (p.Arg523fs) deletion Familial cancer of breast [RCV000234361]|Hereditary cancer-predisposing syndrome [RCV000165099]|not provided [RCV000215708] Chr22:28687966 [GRCh38]
Chr22:29083954 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.347G>A (p.Gly116Glu) single nucleotide variant Familial cancer of breast [RCV000461749]|Hereditary cancer-predisposing syndrome [RCV000165141] Chr22:28725340 [GRCh38]
Chr22:29121328 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1052A>G (p.Glu351Gly) single nucleotide variant CHEK2-related cancer predisposition [RCV005365094]|Familial cancer of breast [RCV001850361]|Hereditary cancer-predisposing syndrome [RCV000167117] Chr22:28696944 [GRCh38]
Chr22:29092932 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val) single nucleotide variant Familial cancer of breast [RCV003607251]|Hereditary cancer-predisposing syndrome [RCV000165218]|not specified [RCV001526935] Chr22:28719477 [GRCh38]
Chr22:29115465 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1118A>G (p.Lys373Arg) single nucleotide variant Familial cancer of breast [RCV000204014]|Hereditary breast ovarian cancer syndrome [RCV004764774]|Hereditary cancer-predisposing syndrome [RCV000165259]|not provided [RCV001284137] Chr22:28695851 [GRCh38]
Chr22:29091839 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.471T>C (p.Ile157=) single nucleotide variant Familial cancer of breast [RCV000547218]|Hereditary cancer-predisposing syndrome [RCV000162615]|not provided [RCV001357567]|not specified [RCV005417980] Chr22:28725098 [GRCh38]
Chr22:29121086 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.655del (p.Glu219fs) deletion Breast and/or ovarian cancer [RCV001798587]|Familial cancer of breast [RCV000545663]|Hereditary breast ovarian cancer syndrome [RCV001192408]|Hereditary cancer-predisposing syndrome [RCV000165339]|not provided [RCV000657336] Chr22:28719423 [GRCh38]
Chr22:29115411 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.925C>G (p.Leu309Val) single nucleotide variant Familial cancer of breast [RCV001232050]|Hereditary cancer-predisposing syndrome [RCV000165368] Chr22:28699921 [GRCh38]
Chr22:29095909 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) single nucleotide variant CHEK2-related cancer predisposition [RCV005025260]|Familial cancer of breast [RCV000206006]|Hereditary cancer-predisposing syndrome [RCV000165429]|See cases [RCV001537852]|not provided [RCV000658932]|not specified [RCV001175503] Chr22:28725094 [GRCh38]
Chr22:29121082 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) single nucleotide variant Familial cancer of breast [RCV000412045]|Hereditary cancer-predisposing syndrome [RCV000162678]|Hereditary nonpolyposis colon cancer [RCV005359399]|not provided [RCV001711324]|not specified [RCV001174909] Chr22:28725095 [GRCh38]
Chr22:29121083 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1392G>A (p.Lys464=) single nucleotide variant Familial cancer of breast [RCV002516442]|Hereditary cancer-predisposing syndrome [RCV000162701] Chr22:28694101 [GRCh38]
Chr22:29090089 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1063C>T (p.Leu355=) single nucleotide variant Familial cancer of breast [RCV000534899]|Hereditary cancer-predisposing syndrome [RCV000162733] Chr22:28696933 [GRCh38]
Chr22:29092921 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe) single nucleotide variant Familial cancer of breast [RCV001226286]|Hereditary cancer-predisposing syndrome [RCV000162769]|not specified [RCV001420739] Chr22:28689178 [GRCh38]
Chr22:29085166 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) single nucleotide variant Familial cancer of breast [RCV001082881]|Hereditary cancer-predisposing syndrome [RCV000162779]|not provided [RCV000587121]|not specified [RCV000855557] Chr22:28725095 [GRCh38]
Chr22:29121083 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) deletion Familial cancer of breast [RCV000458226]|Hereditary cancer-predisposing syndrome [RCV000165489]|Li-Fraumeni syndrome [RCV000588604]|not provided [RCV000222773] Chr22:28694059 [GRCh38]
Chr22:29090047 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1091T>C (p.Ile364Thr) single nucleotide variant Breast and/or ovarian cancer [RCV001798591]|CHEK2-related cancer predisposition [RCV005025261]|Familial cancer of breast [RCV000474346]|Hereditary cancer-predisposing syndrome [RCV000165492]|Malignant tumor of breast [RCV001355507]|not provided [RCV000347424]|not specified [RCV001818381] Chr22:28696905 [GRCh38]
Chr22:29092893 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.557A>T (p.Asn186Ile) single nucleotide variant Familial cancer of breast [RCV003765033]|Hereditary cancer-predisposing syndrome [RCV000165583] Chr22:28725012 [GRCh38]
Chr22:29121000 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) single nucleotide variant Familial cancer of breast [RCV000475798]|Hereditary cancer-predisposing syndrome [RCV000162782]|not provided [RCV001704158]|not specified [RCV000426763] Chr22:28719427 [GRCh38]
Chr22:29115415 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) single nucleotide variant Familial cancer of breast [RCV000410591]|Hereditary cancer-predisposing syndrome [RCV000162813]|not provided [RCV001706070]|not specified [RCV000506278] Chr22:28695215 [GRCh38]
Chr22:29091203 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1608A>G (p.Pro536=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163047] Chr22:28687921 [GRCh38]
Chr22:29083909 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) single nucleotide variant Familial cancer of breast [RCV000199430]|Hereditary cancer-predisposing syndrome [RCV000163051]|Malignant tumor of breast [RCV001356728]|not specified [RCV000426752] Chr22:28696973 [GRCh38]
Chr22:29092961 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.296T>C (p.Leu99Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000163059] Chr22:28734426 [GRCh38]
Chr22:29130414 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) single nucleotide variant Familial cancer of breast [RCV001080248]|Hereditary breast ovarian cancer syndrome [RCV002225475]|Hereditary cancer-predisposing syndrome [RCV000163080]|Malignant tumor of breast [RCV001358565]|not provided [RCV000759041]|not specified [RCV000780178] Chr22:28695793 [GRCh38]
Chr22:29091781 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu) single nucleotide variant Breast and/or ovarian cancer [RCV003491916]|Familial cancer of breast [RCV000704137]|Hereditary cancer-predisposing syndrome [RCV000167229]|not provided [RCV004546445]|not specified [RCV000780187] Chr22:28710055 [GRCh38]
Chr22:29106043 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.446A>G (p.Glu149Gly) single nucleotide variant Familial cancer of breast [RCV000700163]|Hereditary cancer-predisposing syndrome [RCV000167254]|not provided [RCV001753573] Chr22:28725123 [GRCh38]
Chr22:29121111 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1040A>T (p.Asp347Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000165604] Chr22:28696956 [GRCh38]
Chr22:29092944 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1214A>G (p.Asn405Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV005414474]|Familial cancer of breast [RCV000550320]|Hereditary cancer-predisposing syndrome [RCV000165608]|not provided [RCV000585949] Chr22:28695755 [GRCh38]
Chr22:29091743 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.600C>G (p.Val200=) single nucleotide variant Familial cancer of breast [RCV000228022]|Hereditary cancer-predisposing syndrome [RCV000165638]|not provided [RCV001721074]|not specified [RCV003320129] Chr22:28719478 [GRCh38]
Chr22:29115466 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.592+4A>G single nucleotide variant CHEK2-related cancer predisposition [RCV005031684]|Familial cancer of breast [RCV000231464]|Hereditary cancer-predisposing syndrome [RCV000165665]|Malignant tumor of breast [RCV001356770]|not provided [RCV000482777]|not specified [RCV001532913] Chr22:28724973 [GRCh38]
Chr22:29120961 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.910A>G (p.Met304Val) single nucleotide variant CHEK2-related disorder [RCV004535116]|Familial cancer of breast [RCV000465926]|Hereditary cancer-predisposing syndrome [RCV000165714]|not provided [RCV000657048]|not specified [RCV005237622] Chr22:28699936 [GRCh38]
Chr22:29095924 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=) single nucleotide variant Familial cancer of breast [RCV000197690]|Hereditary cancer-predisposing syndrome [RCV000163193]|not specified [RCV000441069] Chr22:28687966 [GRCh38]
Chr22:29083954 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) single nucleotide variant CHEK2-related cancer predisposition [RCV005359412]|Familial cancer of breast [RCV000410420]|Hereditary cancer-predisposing syndrome [RCV000163198]|not provided [RCV001721039]|not specified [RCV004767100] Chr22:28724996 [GRCh38]
Chr22:29120984 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) single nucleotide variant CHEK2-related cancer predisposition [RCV005359413]|Familial cancer of breast [RCV000474482]|Hereditary cancer-predisposing syndrome [RCV000163217]|not provided [RCV001800477]|not specified [RCV000781301] Chr22:28687948 [GRCh38]
Chr22:29083936 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1290T>C (p.His430=) single nucleotide variant Familial cancer of breast [RCV000990386]|Hereditary cancer-predisposing syndrome [RCV000163218] Chr22:28695212 [GRCh38]
Chr22:29091200 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1176G>T (p.Ala392=) single nucleotide variant Familial cancer of breast [RCV002053946]|Hereditary cancer-predisposing syndrome [RCV000163253]|Hereditary nonpolyposis colon cancer [RCV005365066] Chr22:28695793 [GRCh38]
Chr22:29091781 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1566C>T (p.Pro522=) single nucleotide variant Familial cancer of breast [RCV005246687]|Hereditary cancer-predisposing syndrome [RCV000163254]|not provided [RCV003422056]|not specified [RCV000507670] Chr22:28687963 [GRCh38]
Chr22:29083951 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.1377T>A (p.Ala459=) single nucleotide variant Familial cancer of breast [RCV005246688]|Hereditary cancer-predisposing syndrome [RCV000163291] Chr22:28694116 [GRCh38]
Chr22:29090104 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) single nucleotide variant Familial cancer of breast [RCV001087753]|Hereditary cancer-predisposing syndrome [RCV000163325]|not provided [RCV000679678]|not specified [RCV001800478] Chr22:28734716 [GRCh38]
Chr22:29130704 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.514A>G (p.Thr172Ala) single nucleotide variant Familial cancer of breast [RCV000820411]|Hereditary cancer-predisposing syndrome [RCV000167316]|not provided [RCV000586115] Chr22:28725055 [GRCh38]
Chr22:29121043 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.129C>T (p.Thr43=) single nucleotide variant Familial cancer of breast [RCV001437172]|Hereditary cancer-predisposing syndrome [RCV000165762]|not specified [RCV000611853] Chr22:28734593 [GRCh38]
Chr22:29130581 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.322T>A (p.Cys108Ser) single nucleotide variant Familial cancer of breast [RCV001049058]|Hereditary cancer-predisposing syndrome [RCV000165829] Chr22:28725365 [GRCh38]
Chr22:29121353 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) single nucleotide variant Familial cancer of breast [RCV001086645]|Hereditary cancer-predisposing syndrome [RCV000163350]|Li-Fraumeni syndrome [RCV005359420]|not provided [RCV000587452]|not specified [RCV000429216] Chr22:28703506 [GRCh38]
Chr22:29099494 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV005361038]|Familial cancer of breast [RCV000635868]|Hereditary cancer-predisposing syndrome [RCV000167390] Chr22:28734444 [GRCh38]
Chr22:29130432 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) single nucleotide variant Familial cancer of breast [RCV000228262]|Hereditary cancer-predisposing syndrome [RCV000167444]|Hereditary nonpolyposis colon cancer [RCV005361040]|not provided [RCV000485654] Chr22:28734637 [GRCh38]
Chr22:29130625 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.472G>A (p.Ala158Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000167476] Chr22:28725097 [GRCh38]
Chr22:29121085 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) single nucleotide variant CHEK2-related cancer predisposition [RCV004813068]|Familial cancer of breast [RCV000207334]|Hereditary cancer-predisposing syndrome [RCV000167508]|not provided [RCV000759774]|not specified [RCV001582660] Chr22:28725025 [GRCh38]
Chr22:29121013 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) single nucleotide variant Familial cancer of breast [RCV000990400]|Hereditary cancer-predisposing syndrome [RCV000167514]|not provided [RCV000487390] Chr22:28734719 [GRCh38]
Chr22:29130707 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) single nucleotide variant Familial cancer of breast [RCV000410813]|Hereditary cancer-predisposing syndrome [RCV000165939]|not provided [RCV001706085] Chr22:28734587 [GRCh38]
Chr22:29130575 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1052A>C (p.Glu351Ala) single nucleotide variant Familial cancer of breast [RCV000474853]|Hereditary cancer-predisposing syndrome [RCV000165950]|Predisposition to cancer [RCV002291581] Chr22:28696944 [GRCh38]
Chr22:29092932 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1081G>T (p.Asp361Tyr) single nucleotide variant Familial cancer of breast [RCV003468768]|Hereditary cancer-predisposing syndrome [RCV000166026] Chr22:28696915 [GRCh38]
Chr22:29092903 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.186C>T (p.Ser62=) single nucleotide variant Familial cancer of breast [RCV000206741]|Hereditary cancer-predisposing syndrome [RCV000166147]|not provided [RCV001704212] Chr22:28734536 [GRCh38]
Chr22:29130524 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer) deletion Familial cancer of breast [RCV003335161]|Hereditary cancer-predisposing syndrome [RCV000166159] Chr22:28695732..28695747 [GRCh38]
Chr22:29091720..29091735 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys) single nucleotide variant Familial cancer of breast [RCV000461326]|Hereditary cancer-predisposing syndrome [RCV000166176]|not provided [RCV001564596] Chr22:28724989 [GRCh38]
Chr22:29120977 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.920dup (p.Glu308fs) duplication Familial cancer of breast [RCV000635824]|Hereditary cancer-predisposing syndrome [RCV000166190]|not provided [RCV000483271] Chr22:28699925..28699926 [GRCh38]
Chr22:29095913..29095914 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1323C>T (p.Thr441=) single nucleotide variant Familial cancer of breast [RCV000461169]|Hereditary cancer-predisposing syndrome [RCV000163900]|not provided [RCV004998314]|not specified [RCV000428627] Chr22:28695179 [GRCh38]
Chr22:29091167 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys) single nucleotide variant Familial cancer of breast [RCV000463155]|Hereditary cancer-predisposing syndrome [RCV000166389]|not provided [RCV004760414]|not specified [RCV001193090] Chr22:28734618 [GRCh38]
Chr22:29130606 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) single nucleotide variant CHEK2-related cancer predisposition [RCV005025266]|Familial cancer of breast [RCV000554183]|Hereditary cancer-predisposing syndrome [RCV000166397]|not provided [RCV000283398]|not specified [RCV004782273] Chr22:28725265 [GRCh38]
Chr22:29121253 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.593-1G>A single nucleotide variant Familial cancer of breast [RCV001850343]|Hereditary cancer-predisposing syndrome [RCV000166451] Chr22:28719486 [GRCh38]
Chr22:29115474 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.288A>G (p.Leu96=) single nucleotide variant CHEK2-related disorder [RCV004535088]|Familial cancer of breast [RCV000474341]|Hereditary cancer-predisposing syndrome [RCV000163966]|not provided [RCV001704186] Chr22:28734434 [GRCh38]
Chr22:29130422 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1344T>C (p.Ile448=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164095] Chr22:28695158 [GRCh38]
Chr22:29091146 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.990G>A (p.Gln330=) single nucleotide variant Familial cancer of breast [RCV000932573]|Hereditary cancer-predisposing syndrome [RCV000164100]|Hereditary nonpolyposis colon cancer [RCV005359461]|not specified [RCV000599868] Chr22:28699856 [GRCh38]
Chr22:29095844 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.301G>T (p.Asp101Tyr) single nucleotide variant Familial cancer of breast [RCV000457744]|Hereditary cancer-predisposing syndrome [RCV000166518] Chr22:28734421 [GRCh38]
Chr22:29130409 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1439C>T (p.Ala480Val) single nucleotide variant Familial cancer of breast [RCV001850345]|Hereditary cancer-predisposing syndrome [RCV000166550]|not provided [RCV001785484] Chr22:28694054 [GRCh38]
Chr22:29090042 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) single nucleotide variant Familial cancer of breast [RCV000206788]|Familial ovarian cancer [RCV001356173]|Hereditary cancer-predisposing syndrome [RCV000166559]|not provided [RCV000480734]|not specified [RCV001193681] Chr22:28725090 [GRCh38]
Chr22:29121078 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.409_417del (p.Arg137_Tyr139del) deletion Familial cancer of breast [RCV000199899]|Hereditary cancer-predisposing syndrome [RCV000166588] Chr22:28725270..28725278 [GRCh38]
Chr22:29121258..29121266 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.364del (p.Glu122fs) deletion Familial cancer of breast [RCV003335163]|Hereditary cancer-predisposing syndrome [RCV000166630] Chr22:28725323 [GRCh38]
Chr22:29121311 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.926T>A (p.Leu309Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000164175] Chr22:28699920 [GRCh38]
Chr22:29095908 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.277del (p.Trp93fs) deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005246744]|CHEK2-related cancer predisposition [RCV002294059]|Familial cancer of breast [RCV000197766]|Hereditary breast ovarian cancer syndrome [RCV002509269]|Hereditary cancer-predisposing syndrome [RCV000166773]|Predisposition to cancer [RCV004786474]|not provided [RCV000223102] Chr22:28734445 [GRCh38]
Chr22:29130433 [GRCh37]
Chr22:22q12.1		 pathogenic|not provided
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) single nucleotide variant Familial cancer of breast [RCV000228877]|Hereditary cancer-predisposing syndrome [RCV000164268]|Malignant tumor of breast [RCV001357970]|not provided [RCV001284480]|not specified [RCV004700506] Chr22:28687939 [GRCh38]
Chr22:29083927 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) single nucleotide variant Breast and colorectal cancer, susceptibility to [RCV000210079]|CHEK2-related disorder [RCV004535095]|Familial cancer of breast [RCV000459747]|Hereditary cancer-predisposing syndrome [RCV000164270]|Malignant tumor of breast [RCV001357576]|not provided [RCV000221179] Chr22:28725020 [GRCh38]
Chr22:29121008 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter) single nucleotide variant Familial cancer of breast [RCV001046816]|Hereditary cancer-predisposing syndrome [RCV001012022]|not provided [RCV000254950] Chr22:28689149 [GRCh38]
Chr22:29085137 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.606del (p.Phe202fs) deletion Familial cancer of breast [RCV001384514]|Hereditary cancer-predisposing syndrome [RCV000775229]|not provided [RCV000254973] Chr22:28719472 [GRCh38]
Chr22:29115460 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) microsatellite Familial cancer of breast [RCV001070188]|Hereditary cancer-predisposing syndrome [RCV001804992]|not provided [RCV000255001] Chr22:28719446..28719449 [GRCh38]
Chr22:29115434..29115437 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) single nucleotide variant Familial cancer of breast [RCV000545100]|Hereditary cancer-predisposing syndrome [RCV000573767]|not provided [RCV000255142] Chr22:28703511 [GRCh38]
Chr22:29099499 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.683+1G>C single nucleotide variant Familial cancer of breast [RCV000529813]|Hereditary cancer-predisposing syndrome [RCV003584585]|not provided [RCV000255210] Chr22:28719394 [GRCh38]
Chr22:29115382 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1252T>A (p.Phe418Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000579902] Chr22:28695717 [GRCh38]
Chr22:29091705 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.320-3C>A single nucleotide variant Familial cancer of breast [RCV000195464]|Hereditary cancer-predisposing syndrome [RCV000219631] Chr22:28725370 [GRCh38]
Chr22:29121358 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1A>G (p.Met1Val) single nucleotide variant Familial cancer of breast [RCV000195519]|Hereditary cancer-predisposing syndrome [RCV000570536] Chr22:28734721 [GRCh38]
Chr22:29130709 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.3(CHEK2):c.(?_-1)_(*1_?)dup duplication Familial cancer of breast [RCV000195709] Chr22:22q12.1 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.593-1G>T single nucleotide variant Familial cancer of breast [RCV000195929]|Familial cancer of breast [RCV002485316]|Hereditary cancer-predisposing syndrome [RCV000566129] Chr22:28719486 [GRCh38]
Chr22:29115474 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1260-8A>G single nucleotide variant Familial cancer of breast [RCV000196032]|Hereditary breast ovarian cancer syndrome [RCV003483572]|Hereditary cancer-predisposing syndrome [RCV000582062]|not provided [RCV000481621] Chr22:28695250 [GRCh38]
Chr22:29091238 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.3(CHEK2):c.320-?_592+?dup273 duplication Familial cancer of breast [RCV000196086] Chr22:28724977..28725367 [GRCh38]
Chr22:29120965..29121355 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.731A>C (p.Lys244Thr) single nucleotide variant Familial cancer of breast [RCV000196195]|not provided [RCV002260629] Chr22:28711970 [GRCh38]
Chr22:29107958 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.84C>A (p.Ser28=) single nucleotide variant Familial cancer of breast [RCV000196438]|Hereditary cancer-predisposing syndrome [RCV000220881] Chr22:28734638 [GRCh38]
Chr22:29130626 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.587A>G (p.Asn196Ser) single nucleotide variant Familial cancer of breast [RCV000196744]|Hereditary cancer-predisposing syndrome [RCV002354567] Chr22:28724982 [GRCh38]
Chr22:29120970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) single nucleotide variant Familial cancer of breast [RCV000196907]|Hereditary cancer-predisposing syndrome [RCV000564347]|Malignant tumor of breast [RCV001358454]|not provided [RCV000222711]|not specified [RCV000780188] Chr22:28699843 [GRCh38]
Chr22:29095831 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+4_846+7del deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004668848]|CHEK2-related cancer predisposition [RCV004554748]|CHEK2-related cancer predisposition [RCV005025326]|Carcinoma of pancreas [RCV001391210]|Endometrial carcinoma [RCV003128154]|Familial cancer of breast [RCV000197064]|Familial cancer of breast [RCV001171463]|Hereditary breast ovarian cancer syndrome [RCV002229123]|Hereditary cancer-predisposing syndrome [RCV000222175]|Hereditary nonpolyposis colon cancer [RCV005361156]|not provided [RCV000656831]|not specified [RCV000343110] Chr22:28709999..28710002 [GRCh38]
Chr22:29105987..29105990 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_007194.4(CHEK2):c.683+10T>A single nucleotide variant Familial cancer of breast [RCV000197477] Chr22:28719385 [GRCh38]
Chr22:29115373 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.3(CHEK2):c.(?_-1)_(*1_?)del deletion Familial cancer of breast [RCV000197635] Chr22:22q12.1 pathogenic
NM_007194.3(CHEK2):c.909-?_1095+?del deletion Breast and colorectal cancer, susceptibility to [RCV000210155]|Familial cancer of breast [RCV000197905] Chr22:28696901..28699937 [GRCh38]
Chr22:29092889..29095925 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.593-11_593-7del deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005246777]|Familial cancer of breast [RCV000198112]|Hereditary cancer-predisposing syndrome [RCV000579399]|Hereditary nonpolyposis colon cancer [RCV005361136]|not provided [RCV000585035]|not specified [RCV000485140] Chr22:28719492..28719496 [GRCh38]
Chr22:29115480..29115484 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.686G>C (p.Gly229Ala) single nucleotide variant Familial cancer of breast [RCV000198627] Chr22:28712015 [GRCh38]
Chr22:29108003 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) single nucleotide variant Familial cancer of breast [RCV000198756]|Familial cancer of breast [RCV000765621]|Familial ovarian cancer [RCV001356357]|Hereditary cancer-predisposing syndrome [RCV000492498]|not provided [RCV000484098]|not specified [RCV001193083] Chr22:28711959 [GRCh38]
Chr22:29107947 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.320-?_*(1_?)dup duplication Familial cancer of breast [RCV000199289] Chr22:28687896..28725367 [GRCh38]
Chr22:29083884..29121355 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.953G>T (p.Arg318Leu) single nucleotide variant Familial cancer of breast [RCV000200593]|Hereditary cancer-predisposing syndrome [RCV001187924] Chr22:28699893 [GRCh38]
Chr22:29095881 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) single nucleotide variant Familial cancer of breast [RCV000200863]|Hereditary cancer-predisposing syndrome [RCV000777665]|not provided [RCV001564935]|not specified [RCV001255545] Chr22:28687943 [GRCh38]
Chr22:29083931 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1461+1G>A single nucleotide variant CHEK2-related cancer predisposition [RCV005396858]|Familial cancer of breast [RCV000468702]|Hereditary cancer-predisposing syndrome [RCV000569979]|not provided [RCV000255259] Chr22:28694031 [GRCh38]
Chr22:29090019 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1028T>C (p.Ile343Thr) single nucleotide variant Familial cancer of breast [RCV000195910]|Hereditary cancer-predisposing syndrome [RCV000562192]|not provided [RCV001582697]|not specified [RCV001818490] Chr22:28696968 [GRCh38]
Chr22:29092956 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer) deletion Familial cancer of breast [RCV000700987]|Hereditary cancer-predisposing syndrome [RCV000561136]|not provided [RCV001357481] Chr22:28725091 [GRCh38]
Chr22:29121079 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.578T>C (p.Leu193Pro) single nucleotide variant Breast and/or ovarian cancer [RCV003491948]|Familial cancer of breast [RCV000199633]|Hereditary cancer-predisposing syndrome [RCV000567149]|not provided [RCV001589080] Chr22:28724991 [GRCh38]
Chr22:29120979 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1094A>C (p.Lys365Thr) single nucleotide variant Familial cancer of breast [RCV000548312] Chr22:28696902 [GRCh38]
Chr22:29092890 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-10dup duplication not specified [RCV000160451] Chr22:28741771..28741772 [GRCh38]
Chr22:29137759..29137760 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) single nucleotide variant Breast and/or ovarian cancer [RCV003491954]|CHEK2-related cancer predisposition [RCV005361182]|Familial cancer of breast [RCV000204321]|Hereditary cancer-predisposing syndrome [RCV000214040]|not provided [RCV001705173]|not specified [RCV000438041] Chr22:28734707 [GRCh38]
Chr22:29130695 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.194C>G (p.Thr65Arg) single nucleotide variant Familial cancer of breast [RCV000204519]|Hereditary cancer-predisposing syndrome [RCV000777678]|not provided [RCV000520409] Chr22:28734528 [GRCh38]
Chr22:29130516 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.665T>C (p.Met222Thr) single nucleotide variant Familial cancer of breast [RCV000204561]|Hereditary cancer-predisposing syndrome [RCV000570800] Chr22:28719413 [GRCh38]
Chr22:29115401 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.533G>A (p.Gly178Glu) single nucleotide variant Familial cancer of breast [RCV000204617]|Hereditary cancer-predisposing syndrome [RCV002345742]|Malignant tumor of breast [RCV001357044] Chr22:28725036 [GRCh38]
Chr22:29121024 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1623T>C (p.Ala541=) single nucleotide variant Familial cancer of breast [RCV000204786]|Hereditary cancer-predisposing syndrome [RCV000773153]|not specified [RCV000615918] Chr22:28687906 [GRCh38]
Chr22:29083894 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.792+2T>C single nucleotide variant Familial cancer of breast [RCV000205137]|Hereditary breast ovarian cancer syndrome [RCV005251093]|Hereditary cancer-predisposing syndrome [RCV000570644] Chr22:28711907 [GRCh38]
Chr22:29107895 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.1070C>T (p.Ser357Phe) single nucleotide variant Familial cancer of breast [RCV000205218]|Hereditary cancer-predisposing syndrome [RCV000221104]|not provided [RCV000255543] Chr22:28696926 [GRCh38]
Chr22:29092914 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.714C>T (p.Phe238=) single nucleotide variant CHEK2-related disorder [RCV004530222]|Familial cancer of breast [RCV001084549]|Hereditary cancer-predisposing syndrome [RCV000777673]|Malignant tumor of breast [RCV001356907]|not provided [RCV000205233]|not specified [RCV000610350] Chr22:28711987 [GRCh38]
Chr22:29107975 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.146C>T (p.Ser49Phe) single nucleotide variant Familial cancer of breast [RCV000205611]|Hereditary cancer-predisposing syndrome [RCV000561755]|not provided [RCV000679675] Chr22:28734576 [GRCh38]
Chr22:29130564 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+6T>C single nucleotide variant Familial cancer of breast [RCV000205660]|Hereditary cancer-predisposing syndrome [RCV003584566]|not provided [RCV001582708]|not specified [RCV001818497] Chr22:28703499 [GRCh38]
Chr22:29099487 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1000G>A (p.Ala334Thr) single nucleotide variant Familial cancer of breast [RCV000205766]|Hereditary cancer-predisposing syndrome [RCV000234858]|not provided [RCV001582710] Chr22:28699846 [GRCh38]
Chr22:29095834 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) single nucleotide variant Breast and/or ovarian cancer [RCV003150092]|CHEK2-related cancer predisposition [RCV003493502]|Familial cancer of breast [RCV000205862]|Hereditary breast ovarian cancer syndrome [RCV004764780]|Hereditary cancer-predisposing syndrome [RCV000565935]|not provided [RCV001566699] Chr22:28696963 [GRCh38]
Chr22:29092951 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs) duplication Familial cancer of breast [RCV000206009]|Hereditary cancer-predisposing syndrome [RCV003165494] Chr22:28725085..28725086 [GRCh38]
Chr22:29121073..29121074 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.444+5G>C single nucleotide variant Familial cancer of breast [RCV000206019]|not provided [RCV002460986] Chr22:28725238 [GRCh38]
Chr22:29121226 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-10T>G single nucleotide variant Familial cancer of breast [RCV001421981] Chr22:28699947 [GRCh38]
Chr22:29095935 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV005025330]|CHEK2-related cancer predisposition [RCV005361169]|Familial cancer of breast [RCV000206453]|Hereditary cancer-predisposing syndrome [RCV000219155]|Malignant tumor of breast [RCV003447517]|not provided [RCV000481149]|not specified [RCV001818496] Chr22:28725012 [GRCh38]
Chr22:29121000 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.473C>T (p.Ala158Val) single nucleotide variant Familial cancer of breast [RCV000203746]|Hereditary cancer-predisposing syndrome [RCV002336560] Chr22:28725096 [GRCh38]
Chr22:29121084 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1410T>C (p.Asp470=) single nucleotide variant Familial cancer of breast [RCV000203830]|Hereditary cancer-predisposing syndrome [RCV000580335] Chr22:28694083 [GRCh38]
Chr22:29090071 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.320-1G>C single nucleotide variant Familial cancer of breast [RCV000203880]|Hereditary cancer-predisposing syndrome [RCV003165500] Chr22:28725368 [GRCh38]
Chr22:29121356 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.377A>G (p.Asp126Gly) single nucleotide variant Familial cancer of breast [RCV000203958]|Hereditary cancer-predisposing syndrome [RCV002345739]|not provided [RCV001753615] Chr22:28725310 [GRCh38]
Chr22:29121298 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.3(CHEK2):c.684-?_*154+?dup duplication Familial cancer of breast [RCV000203977]   uncertain significance
NM_007194.4(CHEK2):c.846+1G>C single nucleotide variant CHEK2-related cancer predisposition [RCV005396633]|CHEK2-related cancer predisposition [RCV005414478]|Familial cancer of breast [RCV000206880]|Hereditary cancer-predisposing syndrome [RCV000218773]|not provided [RCV000255179] Chr22:28710005 [GRCh38]
Chr22:29105993 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1154G>A (p.Cys385Tyr) single nucleotide variant Breast and/or ovarian cancer [RCV001798682]|CHEK2-related disorder [RCV004530228]|Familial cancer of breast [RCV000204142]|Hereditary cancer-predisposing syndrome [RCV000574409]|not provided [RCV000481497] Chr22:28695815 [GRCh38]
Chr22:29091803 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.986A>G (p.Tyr329Cys) single nucleotide variant Familial cancer of breast [RCV000548810]|Hereditary cancer-predisposing syndrome [RCV002384085] Chr22:28699860 [GRCh38]
Chr22:29095848 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter) single nucleotide variant Familial cancer of breast [RCV003335295]|Hereditary cancer-predisposing syndrome [RCV002328750]|Hereditary nonpolyposis colon cancer [RCV005361502]|not provided [RCV000255399] Chr22:28695799 [GRCh38]
Chr22:29091787 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.860del (p.Lys287fs) deletion Familial cancer of breast [RCV000409327]|Hereditary breast ovarian cancer syndrome [RCV001260330]|Hereditary cancer-predisposing syndrome [RCV002446501]|not provided [RCV000255418] Chr22:28703553 [GRCh38]
Chr22:29099541 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.470T>G (p.Ile157Ser) single nucleotide variant Familial cancer of breast [RCV002518758]|Hereditary cancer-predisposing syndrome [RCV004609336]|Malignant tumor of breast [RCV001358222]|not provided [RCV000255649] Chr22:28725099 [GRCh38]
Chr22:29121087 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1340T>C (p.Phe447Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562327] Chr22:28695162 [GRCh38]
Chr22:29091150 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1058T>C (p.Val353Ala) single nucleotide variant Familial cancer of breast [RCV000558843]|Hereditary cancer-predisposing syndrome [RCV002404408] Chr22:28696938 [GRCh38]
Chr22:29092926 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-8C>T single nucleotide variant Familial cancer of breast [RCV000558950]|Hereditary cancer-predisposing syndrome [RCV000776662]|not provided [RCV005000153]|not specified [RCV001174804] Chr22:28712025 [GRCh38]
Chr22:29108013 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.156C>T (p.Ser52=) single nucleotide variant Familial cancer of breast [RCV000559067] Chr22:28734566 [GRCh38]
Chr22:29130554 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1600A>G (p.Lys534Glu) single nucleotide variant Familial cancer of breast [RCV000559830]|Hereditary cancer-predisposing syndrome [RCV002404409] Chr22:28687929 [GRCh38]
Chr22:29083917 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.960A>T (p.Lys320Asn) single nucleotide variant Familial cancer of breast [RCV002527982]|Hereditary cancer-predisposing syndrome [RCV000562481] Chr22:28699886 [GRCh38]
Chr22:29095874 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe) single nucleotide variant CHEK2-related cancer predisposition [RCV005367368]|Familial cancer of breast [RCV000544062]|Hereditary cancer-predisposing syndrome [RCV000575755]|not provided [RCV000523569]|not specified [RCV001805134] Chr22:28734427 [GRCh38]
Chr22:29130415 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.254C>A (p.Pro85His) single nucleotide variant Familial cancer of breast [RCV000554787]|Hereditary cancer-predisposing syndrome [RCV001190157]|not provided [RCV004791531]|not specified [RCV001821525] Chr22:28734468 [GRCh38]
Chr22:29130456 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.478A>C (p.Ile160Leu) single nucleotide variant Familial cancer of breast [RCV001340655]|Hereditary cancer-predisposing syndrome [RCV000562747] Chr22:28725091 [GRCh38]
Chr22:29121079 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1233G>T (p.Trp411Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000562833] Chr22:28695736 [GRCh38]
Chr22:29091724 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter) single nucleotide variant Familial cancer of breast [RCV001865736]|Hereditary breast ovarian cancer syndrome [RCV004764791]|Hereditary cancer-predisposing syndrome [RCV000562978]|not provided [RCV000657757] Chr22:28695731 [GRCh38]
Chr22:29091719 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1277C>G (p.Pro426Arg) single nucleotide variant Familial cancer of breast [RCV000635663]|Hereditary cancer-predisposing syndrome [RCV000563770] Chr22:28695225 [GRCh38]
Chr22:29091213 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.56C>G (p.Ser19Ter) single nucleotide variant Familial cancer of breast [RCV001055511]|Hereditary cancer-predisposing syndrome [RCV000562079] Chr22:28734666 [GRCh38]
Chr22:29130654 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1051G>C (p.Glu351Gln) single nucleotide variant Familial cancer of breast [RCV002530751]|Hereditary cancer-predisposing syndrome [RCV000579924] Chr22:28696945 [GRCh38]
Chr22:29092933 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1408G>T (p.Asp470Tyr) single nucleotide variant Familial cancer of breast [RCV002516195]|not provided [RCV000219591] Chr22:28694085 [GRCh38]
Chr22:29090073 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.809T>A (p.Val270Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221821] Chr22:28710043 [GRCh38]
Chr22:29106031 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.526G>C (p.Gly176Arg) single nucleotide variant Familial cancer of breast [RCV001854736]|not provided [RCV000221826] Chr22:28725043 [GRCh38]
Chr22:29121031 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1028T>G (p.Ile343Ser) single nucleotide variant Familial cancer of breast [RCV002519752]|Hereditary cancer-predisposing syndrome [RCV004948222]|not provided [RCV000221836] Chr22:28696968 [GRCh38]
Chr22:29092956 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe) single nucleotide variant Familial cancer of breast [RCV000469289]|Hereditary cancer-predisposing syndrome [RCV000221904]|not provided [RCV000223554] Chr22:28725049 [GRCh38]
Chr22:29121037 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.920G>A (p.Gly307Glu) single nucleotide variant Familial cancer of breast [RCV000476255]|Familial cancer of breast [RCV002500740]|Hereditary cancer-predisposing syndrome [RCV001019005]|not provided [RCV000215327] Chr22:28699926 [GRCh38]
Chr22:29095914 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.356A>G (p.Lys119Arg) single nucleotide variant Familial cancer of breast [RCV001202841]|Hereditary cancer-predisposing syndrome [RCV000215367] Chr22:28725331 [GRCh38]
Chr22:29121319 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.544C>T (p.Pro182Ser) single nucleotide variant Familial cancer of breast [RCV000635898]|Hereditary cancer-predisposing syndrome [RCV000215383] Chr22:28725025 [GRCh38]
Chr22:29121013 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) single nucleotide variant CHEK2-related cancer predisposition [RCV005414480]|Familial cancer of breast [RCV000990385]|Hereditary cancer-predisposing syndrome [RCV000215406]|Hereditary nonpolyposis colon cancer [RCV005361271]|not provided [RCV001712100]|not specified [RCV000432175] Chr22:28694041 [GRCh38]
Chr22:29090029 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val) single nucleotide variant Familial cancer of breast [RCV001037157]|Hereditary cancer-predisposing syndrome [RCV000217090]|not specified [RCV000781302] Chr22:28711929 [GRCh38]
Chr22:29107917 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1160C>A (p.Thr387Asn) single nucleotide variant Familial cancer of breast [RCV000230901]|Hereditary cancer-predisposing syndrome [RCV000219618]|not specified [RCV001818527] Chr22:28695809 [GRCh38]
Chr22:29091797 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.910A>T (p.Met304Leu) single nucleotide variant Familial cancer of breast [RCV000458120]|Hereditary cancer-predisposing syndrome [RCV000219675] Chr22:28699936 [GRCh38]
Chr22:29095924 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1591G>T (p.Glu531Ter) single nucleotide variant Familial cancer of breast [RCV000635744]|Hereditary cancer-predisposing syndrome [RCV000219710]|not provided [RCV000521105] Chr22:28687938 [GRCh38]
Chr22:29083926 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.917G>A (p.Gly306Glu) single nucleotide variant CHEK2-related disorder [RCV004532800]|Familial cancer of breast [RCV000464724]|Hereditary cancer-predisposing syndrome [RCV000221992]|not provided [RCV000255080] Chr22:28699929 [GRCh38]
Chr22:29095917 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1160C>G (p.Thr387Ser) single nucleotide variant CHEK2-related disorder [RCV004725075]|Familial cancer of breast [RCV000635953]|Hereditary cancer-predisposing syndrome [RCV000222039]|not provided [RCV003229820] Chr22:28695809 [GRCh38]
Chr22:29091797 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1420C>A (p.Arg474Ser) single nucleotide variant Familial cancer of breast [RCV000470899]|Hereditary cancer-predisposing syndrome [RCV000219946]|not provided [RCV000213121]|not specified [RCV003320140] Chr22:28694073 [GRCh38]
Chr22:29090061 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr) single nucleotide variant Familial cancer of breast [RCV000476080]|Hereditary cancer-predisposing syndrome [RCV000565339]|not provided [RCV000590455]|not specified [RCV002247666] Chr22:28734688 [GRCh38]
Chr22:29130676 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala) single nucleotide variant CHEK2-related cancer predisposition [RCV003137823]|Familial cancer of breast [RCV000228310]|Familial cancer of breast [RCV002478800]|Hereditary cancer-predisposing syndrome [RCV000217252]|not provided [RCV000522320] Chr22:28699884 [GRCh38]
Chr22:29095872 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.368A>G (p.Tyr123Cys) single nucleotide variant Endometrial carcinoma [RCV001355259]|Familial cancer of breast [RCV000466283]|Hereditary cancer-predisposing syndrome [RCV000217311]|not provided [RCV001576667] Chr22:28725319 [GRCh38]
Chr22:29121307 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1462-3C>T single nucleotide variant Familial cancer of breast [RCV000526712]|Hereditary cancer-predisposing syndrome [RCV000219786]|not provided [RCV004772867] Chr22:28689218 [GRCh38]
Chr22:29085206 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) single nucleotide variant Familial cancer of breast [RCV000545753]|Hereditary cancer-predisposing syndrome [RCV000219795]|not provided [RCV000223593]|not specified [RCV001192411] Chr22:28689155 [GRCh38]
Chr22:29085143 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV005414481]|Familial cancer of breast [RCV000469433]|Familial prostate cancer [RCV002282053]|Hereditary cancer-predisposing syndrome [RCV000219822]|not provided [RCV000483345] Chr22:28689191 [GRCh38]
Chr22:29085179 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|not provided
NM_007194.4(CHEK2):c.1399T>G (p.Leu467Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222069] Chr22:28694094 [GRCh38]
Chr22:29090082 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) single nucleotide variant Familial cancer of breast [RCV000475066]|Hereditary cancer-predisposing syndrome [RCV000213236]|not provided [RCV000318548]|not specified [RCV001420839] Chr22:28734507 [GRCh38]
Chr22:29130495 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1378C>G (p.Leu460Val) single nucleotide variant Familial cancer of breast [RCV000798916]|Hereditary cancer-predisposing syndrome [RCV000213274]|not provided [RCV003159113] Chr22:28694115 [GRCh38]
Chr22:29090103 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[3] (p.Glu86_Glu87insAspGlnGluProGlu) microsatellite Familial cancer of breast [RCV000471811]|Hereditary cancer-predisposing syndrome [RCV000219854]|not provided [RCV000487034]|not specified [RCV003493527] Chr22:28734461..28734462 [GRCh38]
Chr22:29130449..29130450 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.52_84del (p.Cys18_Ser28del) deletion Familial cancer of breast [RCV001207833]|Hereditary cancer-predisposing syndrome [RCV000222245]|not provided [RCV001753661] Chr22:28734638..28734670 [GRCh38]
Chr22:29130626..29130658 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1391A>G (p.Lys464Arg) single nucleotide variant CHEK2-related disorder [RCV004529377]|Familial cancer of breast [RCV001222736]|Hereditary cancer-predisposing syndrome [RCV000222336]|not provided [RCV001753667] Chr22:28694102 [GRCh38]
Chr22:29090090 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1367C>T (p.Ser456Leu) single nucleotide variant Familial cancer of breast [RCV001853592]|Hereditary cancer-predisposing syndrome [RCV000220025] Chr22:28695135 [GRCh38]
Chr22:29091123 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu) single nucleotide variant Familial cancer of breast [RCV001036467]|Hereditary cancer-predisposing syndrome [RCV000213517]|not provided [RCV001729467] Chr22:28725062 [GRCh38]
Chr22:29121050 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.505T>A (p.Phe169Ile) single nucleotide variant Familial cancer of breast [RCV001036998]|Hereditary cancer-predisposing syndrome [RCV000213598] Chr22:28725064 [GRCh38]
Chr22:29121052 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.848C>A (p.Pro283His) single nucleotide variant Familial cancer of breast [RCV000692317]|Hereditary cancer-predisposing syndrome [RCV000217734] Chr22:28703565 [GRCh38]
Chr22:29099553 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.831G>C (p.Leu277Phe) single nucleotide variant Familial cancer of breast [RCV001853586]|Hereditary cancer-predisposing syndrome [RCV000217761] Chr22:28710021 [GRCh38]
Chr22:29106009 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) single nucleotide variant Familial cancer of breast [RCV000576345]|Hereditary cancer-predisposing syndrome [RCV000217777]|not provided [RCV000255686] Chr22:28695187 [GRCh38]
Chr22:29091175 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) single nucleotide variant Familial cancer of breast [RCV000459450]|Hereditary cancer-predisposing syndrome [RCV000220064]|not provided [RCV000512899]|not specified [RCV000444042] Chr22:28734590 [GRCh38]
Chr22:29130578 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1154G>T (p.Cys385Phe) single nucleotide variant Familial cancer of breast [RCV005090145]|Hereditary cancer-predisposing syndrome [RCV000772048]|not provided [RCV000220093] Chr22:28695815 [GRCh38]
Chr22:29091803 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1078G>A (p.Glu360Lys) single nucleotide variant Familial cancer of breast [RCV000233648]|Familial cancer of breast [RCV000764378]|Hereditary cancer-predisposing syndrome [RCV000220180]|Hereditary nonpolyposis colon cancer [RCV005361255]|not provided [RCV000985699] Chr22:28696918 [GRCh38]
Chr22:29092906 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1396TTG[1] (p.Leu467del) microsatellite Familial cancer of breast [RCV000812426]|Hereditary cancer-predisposing syndrome [RCV000214084]|not provided [RCV000213705] Chr22:28694092..28694094 [GRCh38]
Chr22:29090080..29090082 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1225G>A (p.Asp409Asn) single nucleotide variant Familial cancer of breast [RCV000526458]|Hereditary cancer-predisposing syndrome [RCV000213717]|not provided [RCV000220442] Chr22:28695744 [GRCh38]
Chr22:29091732 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.249A>G (p.Gln83=) single nucleotide variant Familial cancer of breast [RCV001433566]|Hereditary cancer-predisposing syndrome [RCV000213720] Chr22:28734473 [GRCh38]
Chr22:29130461 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.877G>A (p.Asp293Asn) single nucleotide variant Familial cancer of breast [RCV001072102]|Hereditary cancer-predisposing syndrome [RCV000213727] Chr22:28703536 [GRCh38]
Chr22:29099524 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.963A>C (p.Glu321Asp) single nucleotide variant Familial cancer of breast [RCV005090099]|Hereditary cancer-predisposing syndrome [RCV000215454] Chr22:28699883 [GRCh38]
Chr22:29095871 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375+3A>G single nucleotide variant Familial cancer of breast [RCV000764372]|Familial cancer of breast [RCV001211449]|Hereditary cancer-predisposing syndrome [RCV000217853] Chr22:28695124 [GRCh38]
Chr22:29091112 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) single nucleotide variant Familial cancer of breast [RCV000539842]|Hereditary cancer-predisposing syndrome [RCV000217861]|Li-Fraumeni syndrome [RCV005361345]|not provided [RCV000766899]|not specified [RCV000485639] Chr22:28695710 [GRCh38]
Chr22:29091698 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1376-1G>A single nucleotide variant Familial cancer of breast [RCV001230274]|Hereditary cancer-predisposing syndrome [RCV000217905] Chr22:28694118 [GRCh38]
Chr22:29090106 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu) single nucleotide variant Familial cancer of breast [RCV000635769]|Hereditary cancer-predisposing syndrome [RCV000222098]|not provided [RCV000217906]|not specified [RCV003150985] Chr22:28703525 [GRCh38]
Chr22:29099513 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) single nucleotide variant Breast and/or ovarian cancer [RCV003491990]|Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005416113]|Familial cancer of breast [RCV000465371]|Hereditary breast ovarian cancer syndrome [RCV002265697]|Hereditary cancer-predisposing syndrome [RCV000448496]|not provided [RCV000220219] Chr22:28695737 [GRCh38]
Chr22:29091725 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.520C>G (p.Leu174Val) single nucleotide variant Familial cancer of breast [RCV001853562]|Hereditary cancer-predisposing syndrome [RCV000220253] Chr22:28725049 [GRCh38]
Chr22:29121037 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe) single nucleotide variant Familial cancer of breast [RCV001365138]|Hereditary cancer-predisposing syndrome [RCV000213798]|not provided [RCV001753665]|not specified [RCV001800557] Chr22:28734537 [GRCh38]
Chr22:29130525 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.860A>T (p.Lys287Met) single nucleotide variant Familial cancer of breast [RCV000539843]|Hereditary cancer-predisposing syndrome [RCV000213799]|not provided [RCV001575094] Chr22:28703553 [GRCh38]
Chr22:29099541 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) single nucleotide variant Familial cancer of breast [RCV000456944]|Hereditary cancer-predisposing syndrome [RCV000213808]|Hereditary nonpolyposis colon cancer [RCV005361263]|not provided [RCV001722178]|not specified [RCV000607166] Chr22:28725306 [GRCh38]
Chr22:29121294 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.24G>T (p.Glu8Asp) single nucleotide variant Familial cancer of breast [RCV000635939]|Hereditary cancer-predisposing syndrome [RCV000213815]|not provided [RCV003238741] Chr22:28734698 [GRCh38]
Chr22:29130686 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter) duplication Familial cancer of breast [RCV001854719]|Hereditary cancer-predisposing syndrome [RCV000213838]|not provided [RCV000657826] Chr22:28703536..28703537 [GRCh38]
Chr22:29099524..29099525 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1096-3_1098del deletion Familial cancer of breast [RCV004791342]|Hereditary cancer-predisposing syndrome [RCV000213840] Chr22:28695871..28695876 [GRCh38]
Chr22:29091859..29091864 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.792+5G>A single nucleotide variant Familial cancer of breast [RCV001853514]|Hereditary cancer-predisposing syndrome [RCV000213857] Chr22:28711904 [GRCh38]
Chr22:29107892 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.239C>A (p.Pro80His) single nucleotide variant Familial cancer of breast [RCV000542182]|Hereditary cancer-predisposing syndrome [RCV000213858]|Hereditary nonpolyposis colon cancer [RCV005361289]|not provided [RCV001795353] Chr22:28734483 [GRCh38]
Chr22:29130471 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.206A>G (p.Gln69Arg) single nucleotide variant Familial cancer of breast [RCV001212945]|not provided [RCV000215591] Chr22:28734516 [GRCh38]
Chr22:29130504 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.855C>G (p.Ile285Met) single nucleotide variant CHEK2-related disorder [RCV004737349]|Familial cancer of breast [RCV000526256]|Hereditary cancer-predisposing syndrome [RCV000220847]|not provided [RCV000215612] Chr22:28703558 [GRCh38]
Chr22:29099546 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.686G>T (p.Gly229Val) single nucleotide variant Familial cancer of breast [RCV000231597]|Hereditary cancer-predisposing syndrome [RCV000215617] Chr22:28712015 [GRCh38]
Chr22:29108003 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.660C>T (p.Tyr220=) single nucleotide variant Familial cancer of breast [RCV001506665]|Hereditary cancer-predisposing syndrome [RCV000217982]|Hereditary nonpolyposis colon cancer [RCV005361323] Chr22:28719418 [GRCh38]
Chr22:29115406 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.896T>G (p.Ile299Ser) single nucleotide variant Familial cancer of breast [RCV001853597]|Hereditary cancer-predisposing syndrome [RCV000218081]|not provided [RCV001284624] Chr22:28703517 [GRCh38]
Chr22:29099505 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1113C>T (p.His371=) single nucleotide variant Familial cancer of breast [RCV000456713]|Hereditary cancer-predisposing syndrome [RCV000218083]|not specified [RCV000605748] Chr22:28695856 [GRCh38]
Chr22:29091844 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.78C>T (p.Thr26=) single nucleotide variant Familial cancer of breast [RCV000635983]|Hereditary cancer-predisposing syndrome [RCV000220441]|not specified [RCV000426998] Chr22:28734644 [GRCh38]
Chr22:29130632 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.354C>G (p.Asp118Glu) single nucleotide variant Familial cancer of breast [RCV000635813]|Hereditary cancer-predisposing syndrome [RCV000220471]|not provided [RCV000220593] Chr22:28725333 [GRCh38]
Chr22:29121321 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1351G>A (p.Val451Ile) single nucleotide variant CHEK2-related cancer predisposition [RCV005365165]|Familial cancer of breast [RCV000698359]|Hereditary cancer-predisposing syndrome [RCV000215715] Chr22:28695151 [GRCh38]
Chr22:29091139 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.432T>G (p.Phe144Leu) single nucleotide variant Familial cancer of breast [RCV003607261]|Hereditary cancer-predisposing syndrome [RCV000215720] Chr22:28725255 [GRCh38]
Chr22:29121243 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.876del (p.Phe292fs) deletion Familial cancer of breast [RCV000462314]|Hereditary cancer-predisposing syndrome [RCV000568161]|not provided [RCV000215774] Chr22:28703537 [GRCh38]
Chr22:29099525 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) single nucleotide variant Familial cancer of breast [RCV000476107]|Hereditary cancer-predisposing syndrome [RCV000218111]|not provided [RCV000759044]|not specified [RCV000781295] Chr22:28734663 [GRCh38]
Chr22:29130651 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1520C>A (p.Ala507Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000218115] Chr22:28689157 [GRCh38]
Chr22:29085145 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375+1_1375+2del deletion Familial cancer of breast [RCV000823885]|Hereditary cancer-predisposing syndrome [RCV000220512] Chr22:28695125..28695126 [GRCh38]
Chr22:29091113..29091114 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs) deletion Familial cancer of breast [RCV001854693]|Hereditary breast ovarian cancer syndrome [RCV001199925]|Hereditary cancer-predisposing syndrome [RCV000220544]|not provided [RCV001551330] Chr22:28734702..28734708 [GRCh38]
Chr22:29130690..29130696 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.91_111dup (p.Gly37_Ile38insSerSerSerGlnSerGlnGly) duplication Familial cancer of breast [RCV002518231]|Hereditary cancer-predisposing syndrome [RCV000220600] Chr22:28734610..28734611 [GRCh38]
Chr22:29130598..29130599 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.110G>A (p.Gly37Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000220647] Chr22:28734612 [GRCh38]
Chr22:29130600 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1200G>A (p.Gly400=) single nucleotide variant Familial cancer of breast [RCV002057201]|Hereditary cancer-predisposing syndrome [RCV000214151] Chr22:28695769 [GRCh38]
Chr22:29091757 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1095+1G>A single nucleotide variant Familial cancer of breast [RCV000468038]|Hereditary cancer-predisposing syndrome [RCV000215927]|not provided [RCV000520428] Chr22:28696900 [GRCh38]
Chr22:29092888 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.916G>T (p.Gly306Trp) single nucleotide variant Familial cancer of breast [RCV000458988]|Hereditary cancer-predisposing syndrome [RCV000565220]|not provided [RCV000767121]|not specified [RCV000218256] Chr22:28699930 [GRCh38]
Chr22:29095918 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1277C>A (p.Pro426His) single nucleotide variant Familial cancer of breast [RCV000699081]|Hereditary cancer-predisposing syndrome [RCV000220383]|not provided [RCV000218265] Chr22:28695225 [GRCh38]
Chr22:29091213 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala) single nucleotide variant Familial cancer of breast [RCV000530173]|Hereditary cancer-predisposing syndrome [RCV000218319]|not provided [RCV001775694] Chr22:28695181 [GRCh38]
Chr22:29091169 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.974A>T (p.Lys325Met) single nucleotide variant Familial cancer of breast [RCV000540877]|Hereditary cancer-predisposing syndrome [RCV000218357] Chr22:28699872 [GRCh38]
Chr22:29095860 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.507_509del (p.Phe169_Val170delinsLeu) deletion Familial cancer of breast [RCV000798479]|Hereditary cancer-predisposing syndrome [RCV000220664] Chr22:28725060..28725062 [GRCh38]
Chr22:29121048..29121050 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.238C>T (p.Pro80Ser) single nucleotide variant Familial cancer of breast [RCV000822283]|Hereditary cancer-predisposing syndrome [RCV000222378] Chr22:28734484 [GRCh38]
Chr22:29130472 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.272C>A (p.Ala91Asp) single nucleotide variant Familial cancer of breast [RCV001237510]|Hereditary cancer-predisposing syndrome [RCV000222404] Chr22:28734450 [GRCh38]
Chr22:29130438 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.759A>G (p.Lys253=) single nucleotide variant Familial cancer of breast [RCV005246814]|Hereditary cancer-predisposing syndrome [RCV000222531] Chr22:28711942 [GRCh38]
Chr22:29107930 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) single nucleotide variant Breast neoplasm [RCV000399989]|Colorectal cancer [RCV000301635]|Familial cancer of breast [RCV000232766]|Hereditary cancer-predisposing syndrome [RCV000222533]|not provided [RCV000586880]|not specified [RCV003235148] Chr22:28725352 [GRCh38]
Chr22:29121340 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.793-122G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209010] Chr22:28710181 [GRCh38]
Chr22:29106169 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) single nucleotide variant Familial cancer of breast [RCV000555257]|Hereditary cancer-predisposing syndrome [RCV000214290]|not provided [RCV001800577]|not specified [RCV001804960] Chr22:28725245 [GRCh38]
Chr22:29121233 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) single nucleotide variant Familial cancer of breast [RCV000470987]|Hereditary cancer-predisposing syndrome [RCV000214317]|not provided [RCV001762482]|not specified [RCV003230457] Chr22:28687938 [GRCh38]
Chr22:29083926 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.371G>T (p.Cys124Phe) single nucleotide variant Familial cancer of breast [RCV005090137]|not provided [RCV000215985] Chr22:28725316 [GRCh38]
Chr22:29121304 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) single nucleotide variant CHEK2-related cancer predisposition [RCV005025360]|Familial cancer of breast [RCV000535584]|Hereditary breast ovarian cancer syndrome [RCV001030621]|Hereditary cancer-predisposing syndrome [RCV000215992]|Malignant tumor of breast [RCV001355832]|not provided [RCV000223343]|not specified [RCV000780185] Chr22:28695145 [GRCh38]
Chr22:29091133 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.-3G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000217055]|not provided [RCV000215997] Chr22:28734724 [GRCh38]
Chr22:29130712 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375G>C (p.Ala459Pro) single nucleotide variant Familial cancer of breast [RCV000691821]|Hereditary cancer-predisposing syndrome [RCV000216045] Chr22:28695127 [GRCh38]
Chr22:29091115 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.496A>G (p.Asn166Asp) single nucleotide variant Familial cancer of breast [RCV000537393]|Hereditary cancer-predisposing syndrome [RCV000220903]|not provided [RCV000479865] Chr22:28725073 [GRCh38]
Chr22:29121061 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) deletion CHEK2-related disorder [RCV004532790]|Familial cancer of breast [RCV000635814]|Hereditary cancer-predisposing syndrome [RCV000223426]|not provided [RCV000220927] Chr22:28694065..28694076 [GRCh38]
Chr22:29090053..29090064 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys) single nucleotide variant CHEK2-related cancer predisposition [RCV005414484]|Familial cancer of breast [RCV000534980]|Hereditary cancer-predisposing syndrome [RCV000222661]|not specified [RCV002265693] Chr22:28687959 [GRCh38]
Chr22:29083947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr) single nucleotide variant Familial cancer of breast [RCV000476078]|Hereditary cancer-predisposing syndrome [RCV000222675]|Hereditary nonpolyposis colon cancer [RCV005361268]|not provided [RCV001800546]|not specified [RCV001193089] Chr22:28694055 [GRCh38]
Chr22:29090043 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.399A>G (p.Thr133=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000222679] Chr22:28725288 [GRCh38]
Chr22:29121276 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.847-1329T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208907] Chr22:28704895 [GRCh38]
Chr22:29100883 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1542+208C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000208932] Chr22:28688927 [GRCh38]
Chr22:29084915 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.592+1802A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209013] Chr22:28723175 [GRCh38]
Chr22:29119163 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.846+664C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209174] Chr22:28709342 [GRCh38]
Chr22:29105330 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1009-166A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209250] Chr22:28697153 [GRCh38]
Chr22:29093141 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.520C>A (p.Leu174Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000216235] Chr22:28725049 [GRCh38]
Chr22:29121037 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1098T>C (p.Ile366=) single nucleotide variant Familial cancer of breast [RCV001395884]|Hereditary cancer-predisposing syndrome [RCV000216244] Chr22:28695871 [GRCh38]
Chr22:29091859 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile) single nucleotide variant Familial cancer of breast [RCV000536362]|Hereditary cancer-predisposing syndrome [RCV000216282] Chr22:28734584 [GRCh38]
Chr22:29130572 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.409_410delinsTC (p.Arg137Ser) indel Familial cancer of breast [RCV002519660]|Hereditary cancer-predisposing syndrome [RCV000218554] Chr22:28725277..28725278 [GRCh38]
Chr22:29121265..29121266 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1300G>A (p.Val434Met) single nucleotide variant Familial cancer of breast [RCV000635886]|Hereditary cancer-predisposing syndrome [RCV000221032] Chr22:28695202 [GRCh38]
Chr22:29091190 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.494G>A (p.Gly165Asp) single nucleotide variant Breast and/or ovarian cancer [RCV001798724]|Familial cancer of breast [RCV000465836]|Hereditary cancer-predisposing syndrome [RCV000221086]|not provided [RCV000485481] Chr22:28725075 [GRCh38]
Chr22:29121063 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1076A>G (p.Glu359Gly) single nucleotide variant CHEK2-related cancer predisposition [RCV004701296]|Familial cancer of breast [RCV000635710]|Hereditary cancer-predisposing syndrome [RCV000222729]|not provided [RCV000482650]|not specified [RCV001818540] Chr22:28696920 [GRCh38]
Chr22:29092908 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+783C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209077] Chr22:28693249 [GRCh38]
Chr22:29089237 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.792+128C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209147] Chr22:28711781 [GRCh38]
Chr22:29107769 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1461+1775T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209256] Chr22:28692257 [GRCh38]
Chr22:29088245 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.909-90C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209454] Chr22:28700027 [GRCh38]
Chr22:29096015 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1462-181A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209529] Chr22:28689396 [GRCh38]
Chr22:29085384 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.793-107G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209555] Chr22:28710166 [GRCh38]
Chr22:29106154 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter) single nucleotide variant Familial cancer of breast [RCV000699485]|Hereditary cancer-predisposing syndrome [RCV000214536]|not provided [RCV000657722] Chr22:28694034 [GRCh38]
Chr22:29090022 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) single nucleotide variant Familial cancer of breast [RCV000230142]|Familial cancer of breast [RCV002485419]|Hereditary cancer-predisposing syndrome [RCV000214565]|Hereditary nonpolyposis colon cancer [RCV005361275]|not provided [RCV000523789]|not specified [RCV000781305] Chr22:28734588 [GRCh38]
Chr22:29130576 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1401G>C (p.Leu467Phe) single nucleotide variant Familial cancer of breast [RCV001323295]|Hereditary cancer-predisposing syndrome [RCV000214589] Chr22:28694092 [GRCh38]
Chr22:29090080 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1141A>C (p.Met381Leu) single nucleotide variant CHEK2-related cancer predisposition [RCV001833223]|Familial cancer of breast [RCV000554690]|Hereditary cancer-predisposing syndrome [RCV000214614]|not provided [RCV001594878] Chr22:28695828 [GRCh38]
Chr22:29091816 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg) single nucleotide variant Familial cancer of breast [RCV000226448]|Hereditary cancer-predisposing syndrome [RCV000214627]|not provided [RCV000657033]|not specified [RCV003230460] Chr22:28734468 [GRCh38]
Chr22:29130456 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=) single nucleotide variant Familial cancer of breast [RCV000872142]|Hereditary cancer-predisposing syndrome [RCV000216315]|not specified [RCV001193689] Chr22:28695766 [GRCh38]
Chr22:29091754 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1089T>C (p.Leu363=) single nucleotide variant Familial cancer of breast [RCV000547372]|Hereditary cancer-predisposing syndrome [RCV000216336]|not provided [RCV001722182] Chr22:28696907 [GRCh38]
Chr22:29092895 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.788_790dup (p.Glu263_Ala264insGlu) duplication Hereditary cancer-predisposing syndrome [RCV000216414] Chr22:28711910..28711911 [GRCh38]
Chr22:29107898..29107899 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.842A>C (p.Asn281Thr) single nucleotide variant Familial cancer of breast [RCV000686614]|Hereditary cancer-predisposing syndrome [RCV000216434]|not provided [RCV001753658] Chr22:28710010 [GRCh38]
Chr22:29105998 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.414A>C (p.Thr138=) single nucleotide variant Familial cancer of breast [RCV001479069]|Hereditary cancer-predisposing syndrome [RCV000218705] Chr22:28725273 [GRCh38]
Chr22:29121261 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr) single nucleotide variant CHEK2-related cancer predisposition [RCV005025354]|Familial cancer of breast [RCV000234274]|Hereditary cancer-predisposing syndrome [RCV000218814]|not provided [RCV003153494]|not specified [RCV002465568] Chr22:28703562 [GRCh38]
Chr22:29099550 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.304G>T (p.Gly102Ter) single nucleotide variant Familial cancer of breast [RCV001212505]|Hereditary cancer-predisposing syndrome [RCV000218820] Chr22:28734418 [GRCh38]
Chr22:29130406 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.86A>G (p.Gln29Arg) single nucleotide variant Familial cancer of breast [RCV002519718]|Hereditary cancer-predisposing syndrome [RCV000218829] Chr22:28734636 [GRCh38]
Chr22:29130624 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1037G>T (p.Arg346Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000221244] Chr22:28696959 [GRCh38]
Chr22:29092947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.114A>G (p.Ile38Met) single nucleotide variant not provided [RCV000222888] Chr22:28734608 [GRCh38]
Chr22:29130596 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1618G>A (p.Ala540Thr) single nucleotide variant Familial cancer of breast [RCV001338616]|Hereditary cancer-predisposing syndrome [RCV000222912] Chr22:28687911 [GRCh38]
Chr22:29083899 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1491T>C (p.Asp497=) single nucleotide variant Familial cancer of breast [RCV000460613]|Hereditary cancer-predisposing syndrome [RCV000222942]|Malignant tumor of breast [RCV001356889]|not provided [RCV003477745]|not specified [RCV000426186] Chr22:28689186 [GRCh38]
Chr22:29085174 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.1376-12T>C single nucleotide variant CHEK2-related cancer predisposition [RCV005361354]|Familial cancer of breast [RCV002054998]|Hereditary cancer-predisposing syndrome [RCV001192140]|not provided [RCV000222949] Chr22:28694129 [GRCh38]
Chr22:29090117 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1408G>C (p.Asp470His) single nucleotide variant Familial cancer of breast [RCV000463739]|Hereditary cancer-predisposing syndrome [RCV000222979]|not provided [RCV001284479] Chr22:28694085 [GRCh38]
Chr22:29090073 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.707T>A (p.Leu236Gln) single nucleotide variant Familial cancer of breast [RCV005090103]|Hereditary cancer-predisposing syndrome [RCV000222985] Chr22:28711994 [GRCh38]
Chr22:29107982 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375+140G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209351] Chr22:28694987 [GRCh38]
Chr22:29090975 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.909-74T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209450] Chr22:28700011 [GRCh38]
Chr22:29095999 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.592+1705C>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209478] Chr22:28723272 [GRCh38]
Chr22:29119260 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-7+136T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209778] Chr22:28741633 [GRCh38]
Chr22:29137621 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1032A>G (p.Ile344Met) single nucleotide variant Familial cancer of breast [RCV000807751]|Hereditary cancer-predisposing syndrome [RCV000214665]|not provided [RCV000759771]|not specified [RCV005237749] Chr22:28696964 [GRCh38]
Chr22:29092952 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1134C>T (p.Thr378=) single nucleotide variant Familial cancer of breast [RCV001485674]|Hereditary cancer-predisposing syndrome [RCV000214722] Chr22:28695835 [GRCh38]
Chr22:29091823 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser) single nucleotide variant Familial cancer of breast [RCV000468739]|Hereditary cancer-predisposing syndrome [RCV000214724] Chr22:28734414 [GRCh38]
Chr22:29130402 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1048C>G (p.Pro350Ala) single nucleotide variant Familial cancer of breast [RCV003500514]|Hereditary cancer-predisposing syndrome [RCV000214725]|not provided [RCV001284136] Chr22:28696948 [GRCh38]
Chr22:29092936 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys) single nucleotide variant Familial cancer of breast [RCV000696869]|Hereditary cancer-predisposing syndrome [RCV000214765]|not provided [RCV000585913]|not specified [RCV001175354] Chr22:28734564 [GRCh38]
Chr22:29130552 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.284G>A (p.Arg95Gln) single nucleotide variant CHEK2-related cancer predisposition [RCV005414482]|Familial cancer of breast [RCV000555568]|Hereditary cancer-predisposing syndrome [RCV000216512] Chr22:28734438 [GRCh38]
Chr22:29130426 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.945G>T (p.Gly315=) single nucleotide variant Familial cancer of breast [RCV001238036]|Hereditary cancer-predisposing syndrome [RCV000216514] Chr22:28699901 [GRCh38]
Chr22:29095889 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.1093A>G (p.Lys365Glu) single nucleotide variant Familial cancer of breast [RCV000795561]|Hereditary cancer-predisposing syndrome [RCV000218891] Chr22:28696903 [GRCh38]
Chr22:29092891 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.886G>T (p.Asp296Tyr) single nucleotide variant CHEK2-related cancer predisposition [RCV004776435]|Familial cancer of breast [RCV000696110]|Hereditary breast ovarian cancer syndrome [RCV001030684]|Hereditary cancer-predisposing syndrome [RCV000218902]|not provided [RCV000480778]|not specified [RCV005406960] Chr22:28703527 [GRCh38]
Chr22:29099515 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) single nucleotide variant Familial cancer of breast [RCV000663138]|Hereditary cancer-predisposing syndrome [RCV000218911]|not provided [RCV000222824] Chr22:28734517 [GRCh38]
Chr22:29130505 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) single nucleotide variant CHEK2-related cancer predisposition [RCV005025358]|Familial cancer of breast [RCV000545025]|Hereditary breast ovarian cancer syndrome [RCV001030624]|Hereditary cancer-predisposing syndrome [RCV000221402]|not specified [RCV001193684] Chr22:28695774 [GRCh38]
Chr22:29091762 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) single nucleotide variant CHEK2-related cancer predisposition [RCV005414485]|Familial cancer of breast [RCV000635982]|Hereditary cancer-predisposing syndrome [RCV000221424]|not specified [RCV000418461] Chr22:28725270 [GRCh38]
Chr22:29121258 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.276dup (p.Trp93fs) duplication Familial cancer of breast [RCV001065399]|Hereditary cancer-predisposing syndrome [RCV000574687]|not provided [RCV000223018] Chr22:28734445..28734446 [GRCh38]
Chr22:29130433..29130434 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1340T>G (p.Phe447Cys) single nucleotide variant Familial cancer of breast [RCV001854691]|Hereditary cancer-predisposing syndrome [RCV000223071]|not provided [RCV001354931] Chr22:28695162 [GRCh38]
Chr22:29091150 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.387G>A (p.Leu129=) single nucleotide variant Familial cancer of breast [RCV000929339]|Hereditary cancer-predisposing syndrome [RCV000223088] Chr22:28725300 [GRCh38]
Chr22:29121288 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1352T>C (p.Val451Ala) single nucleotide variant Familial cancer of breast [RCV001343023]|Hereditary cancer-predisposing syndrome [RCV000223114]|not provided [RCV000481522] Chr22:28695150 [GRCh38]
Chr22:29091138 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1050A>G (p.Pro350=) single nucleotide variant Familial cancer of breast [RCV001443967]|Hereditary cancer-predisposing syndrome [RCV004023839] Chr22:28696946 [GRCh38]
Chr22:29092934 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.909-61T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209634] Chr22:28699998 [GRCh38]
Chr22:29095986 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1375+121T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209697] Chr22:28695006 [GRCh38]
Chr22:29090994 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1096-129A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209754]|not provided [RCV001812215] Chr22:28696002 [GRCh38]
Chr22:29091990 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-6-3504A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000209801] Chr22:28738231 [GRCh38]
Chr22:29134219 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn) single nucleotide variant Familial cancer of breast [RCV000688848]|Hereditary cancer-predisposing syndrome [RCV000214852]|not provided [RCV002262809] Chr22:28695821 [GRCh38]
Chr22:29091809 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.27T>C (p.Ala9=) single nucleotide variant CHEK2-related disorder [RCV004532805]|Familial cancer of breast [RCV000978774]|Hereditary cancer-predisposing syndrome [RCV000214889]|not specified [RCV000610859] Chr22:28734695 [GRCh38]
Chr22:29130683 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) single nucleotide variant CHEK2-related cancer predisposition [RCV005414483]|Familial cancer of breast [RCV000465325]|Hereditary cancer-predisposing syndrome [RCV000214895]|not provided [RCV001711509]|not specified [RCV000440523] Chr22:28687936 [GRCh38]
Chr22:29083924 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.1220C>T (p.Ala407Val) single nucleotide variant Familial cancer of breast [RCV001854700]|Hereditary cancer-predisposing syndrome [RCV000214948] Chr22:28695749 [GRCh38]
Chr22:29091737 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.925C>T (p.Leu309=) single nucleotide variant Familial cancer of breast [RCV001438069]|Hereditary cancer-predisposing syndrome [RCV000216612]|not specified [RCV000611282] Chr22:28699921 [GRCh38]
Chr22:29095909 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1386T>C (p.Leu462=) single nucleotide variant Familial cancer of breast [RCV001409242]|Hereditary cancer-predisposing syndrome [RCV000216731] Chr22:28694107 [GRCh38]
Chr22:29090095 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.908+1G>T single nucleotide variant Familial cancer of breast [RCV003335267]|Hereditary breast ovarian cancer syndrome [RCV002282061]|Hereditary cancer-predisposing syndrome [RCV001018802]|not provided [RCV000219083] Chr22:28703504 [GRCh38]
Chr22:29099492 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.372del (p.Phe125fs) deletion Familial cancer of breast [RCV000810666]|Hereditary cancer-predisposing syndrome [RCV003165578]|not provided [RCV000221519] Chr22:28725315 [GRCh38]
Chr22:29121303 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val) single nucleotide variant CHEK2-related cancer predisposition [RCV001788089]|Familial cancer of breast [RCV000459190]|Hereditary cancer-predisposing syndrome [RCV000221570]|not provided [RCV000589153] Chr22:28725091 [GRCh38]
Chr22:29121079 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1402G>A (p.Val468Ile) single nucleotide variant Familial cancer of breast [RCV000471573]|Hereditary cancer-predisposing syndrome [RCV000223247] Chr22:28694091 [GRCh38]
Chr22:29090079 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NC_000022.10:g.(?_29095820)_(29130715_?)del deletion Familial cancer of breast [RCV000543787] Chr22:29095820..29130715 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 1 [RCV005246836]|Familial cancer of breast [RCV000576520]|Hereditary breast ovarian cancer syndrome [RCV005090100]|Hereditary cancer-predisposing syndrome [RCV000215015]|Uterine corpus cancer [RCV003128155] Chr22:28703519 [GRCh38]
Chr22:29099507 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.222T>C (p.Ile74=) single nucleotide variant CHEK2-related cancer predisposition [RCV005361309]|Familial cancer of breast [RCV001499395]|Hereditary cancer-predisposing syndrome [RCV000216855]|not specified [RCV000601017] Chr22:28734500 [GRCh38]
Chr22:29130488 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer) deletion Familial cancer of breast [RCV000635697]|Hereditary cancer-predisposing syndrome [RCV000219196]|not provided [RCV000255563] Chr22:28703537..28703538 [GRCh38]
Chr22:29099525..29099526 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.777T>C (p.Gly259=) single nucleotide variant Familial cancer of breast [RCV001470569]|Hereditary cancer-predisposing syndrome [RCV000221614]|not specified [RCV000427555] Chr22:28711924 [GRCh38]
Chr22:29107912 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.616G>A (p.Val206Ile) single nucleotide variant Familial cancer of breast [RCV000635649]|Hereditary cancer-predisposing syndrome [RCV000221751] Chr22:28719462 [GRCh38]
Chr22:29115450 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.517G>A (p.Glu173Lys) single nucleotide variant Familial cancer of breast [RCV001317364]|Hereditary cancer-predisposing syndrome [RCV000223336] Chr22:28725052 [GRCh38]
Chr22:29121040 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1197del (p.Thr401fs) deletion Familial cancer of breast [RCV003335238]|Hereditary cancer-predisposing syndrome [RCV000223384] Chr22:28695772 [GRCh38]
Chr22:29091760 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1016A>G (p.His339Arg) single nucleotide variant Familial cancer of breast [RCV001865716]|Hereditary cancer-predisposing syndrome [RCV000562095]|not specified [RCV003320192] Chr22:28696980 [GRCh38]
Chr22:29092968 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1558_1559insC (p.Lys520fs) insertion Familial cancer of breast [RCV003335246]|Hereditary cancer-predisposing syndrome [RCV000217042] Chr22:28687970..28687971 [GRCh38]
Chr22:29083958..29083959 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.108G>A (p.Gln36=) single nucleotide variant Familial cancer of breast [RCV002057210]|Hereditary cancer-predisposing syndrome [RCV000219322]|not specified [RCV000606978] Chr22:28734614 [GRCh38]
Chr22:29130602 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.695G>A (p.Gly232Glu) single nucleotide variant Familial cancer of breast [RCV000685658]|Hereditary cancer-predisposing syndrome [RCV000219327] Chr22:28712006 [GRCh38]
Chr22:29107994 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.920del (p.Gly307fs) deletion Familial cancer of breast [RCV000635873]|Hereditary cancer-predisposing syndrome [RCV000219380] Chr22:28699926 [GRCh38]
Chr22:29095914 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1337del (p.Asn446fs) deletion Familial cancer of breast [RCV000547049]|Hereditary cancer-predisposing syndrome [RCV000219411]|not provided [RCV000254757] Chr22:28695165 [GRCh38]
Chr22:29091153 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter) single nucleotide variant Familial cancer of breast [RCV000229454]|Hereditary cancer-predisposing syndrome [RCV000568332]|not provided [RCV001795369] Chr22:28696924 [GRCh38]
Chr22:29092912 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1269G>T (p.Gly423=) single nucleotide variant Familial cancer of breast [RCV000229695]|Hereditary cancer-predisposing syndrome [RCV000561613]|not provided [RCV004999153] Chr22:28695233 [GRCh38]
Chr22:29091221 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.683+1G>A single nucleotide variant CHEK2-related cancer predisposition [RCV003333745]|Familial cancer of breast [RCV000229878]|Hereditary breast ovarian cancer syndrome [RCV005406979]|Hereditary cancer-predisposing syndrome [RCV000571803] Chr22:28719394 [GRCh38]
Chr22:29115382 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser) single nucleotide variant Familial cancer of breast [RCV000230229]|Hereditary cancer-predisposing syndrome [RCV000573507] Chr22:28711939 [GRCh38]
Chr22:29107927 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1260-6del deletion Familial cancer of breast [RCV000228232]|Hereditary cancer-predisposing syndrome [RCV000771321]|not provided [RCV000480678] Chr22:28695248 [GRCh38]
Chr22:29091236 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.827T>G (p.Ile276Ser) single nucleotide variant Familial cancer of breast [RCV000230738]|Hereditary cancer-predisposing syndrome [RCV001027363] Chr22:28710025 [GRCh38]
Chr22:29106013 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.882AGA[1] (p.Glu295del) microsatellite CHEK2-related cancer predisposition [RCV005361458]|Familial cancer of breast [RCV000231095]|Hereditary cancer-predisposing syndrome [RCV000569380]|Malignant tumor of breast [RCV001357063]|not provided [RCV002307465] Chr22:28703526..28703528 [GRCh38]
Chr22:29099514..29099516 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.25G>A (p.Ala9Thr) single nucleotide variant Familial cancer of breast [RCV000229227]|Hereditary cancer-predisposing syndrome [RCV000579464] Chr22:28734697 [GRCh38]
Chr22:29130685 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1231T>G (p.Trp411Gly) single nucleotide variant Familial cancer of breast [RCV000231745]|Hereditary cancer-predisposing syndrome [RCV000580448] Chr22:28695738 [GRCh38]
Chr22:29091726 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.710C>T (p.Ala237Val) single nucleotide variant CHEK2-related cancer predisposition [RCV005025393]|Familial cancer of breast [RCV000229558]|Hereditary cancer-predisposing syndrome [RCV003165640] Chr22:28711991 [GRCh38]
Chr22:29107979 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp) single nucleotide variant Familial cancer of breast [RCV000229971]|Hereditary cancer-predisposing syndrome [RCV000582604]|not provided [RCV004767187]|not specified [RCV002229363] Chr22:28725359 [GRCh38]
Chr22:29121347 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.240T>G (p.Pro80=) single nucleotide variant Familial cancer of breast [RCV001483683]|Hereditary cancer-predisposing syndrome [RCV000776454] Chr22:28734482 [GRCh38]
Chr22:29130470 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.3(CHEK2):c.320-?_*154+?dup duplication Familial cancer of breast [RCV000225783]   uncertain significance
NM_007194.4(CHEK2):c.1497G>A (p.Leu499=) single nucleotide variant Familial cancer of breast [RCV001441649]|Hereditary cancer-predisposing syndrome [RCV003584580] Chr22:28689180 [GRCh38]
Chr22:29085168 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn) single nucleotide variant Familial cancer of breast [RCV000233086]|Hereditary cancer-predisposing syndrome [RCV002411054]|not specified [RCV001192413] Chr22:28734645 [GRCh38]
Chr22:29130633 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1374_1375inv (p.Lys458_Ala459delinsAsnSer) inversion Familial cancer of breast [RCV000233221]|Hereditary cancer-predisposing syndrome [RCV002379014]|Predisposition to cancer [RCV001775104]|not provided [RCV001753705] Chr22:28695127..28695128 [GRCh38]
Chr22:29091115..29091116 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_007194.4(CHEK2):c.188T>C (p.Leu63Ser) single nucleotide variant Familial cancer of breast [RCV000231926] Chr22:28734534 [GRCh38]
Chr22:29130522 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1240G>A (p.Gly414Arg) single nucleotide variant Familial cancer of breast [RCV000226640]|Hereditary cancer-predisposing syndrome [RCV000565206]|not provided [RCV004999152] Chr22:28695729 [GRCh38]
Chr22:29091717 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1307T>G (p.Leu436Arg) single nucleotide variant Familial cancer of breast [RCV000233610]|Hereditary cancer-predisposing syndrome [RCV002379013]|not provided [RCV003477830] Chr22:28695195 [GRCh38]
Chr22:29091183 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu) single nucleotide variant Familial cancer of breast [RCV000232004]|Hereditary cancer-predisposing syndrome [RCV000573953]|not provided [RCV001762540]|not specified [RCV001797691] Chr22:28719449 [GRCh38]
Chr22:29115437 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847-10C>G single nucleotide variant Familial cancer of breast [RCV000233752]|Familial cancer of breast [RCV002494653]|Hereditary cancer-predisposing syndrome [RCV000580112]|not provided [RCV001284622]|not specified [RCV000442363] Chr22:28703576 [GRCh38]
Chr22:29099564 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_007194.3(CHEK2):c.593-?_*154dup1194 duplication Familial cancer of breast [RCV000234319] Chr22:28687743..28719485 [GRCh38]
Chr22:29083731..29115473 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1188del (p.Val397fs) deletion Familial cancer of breast [RCV000234460]|Hereditary cancer-predisposing syndrome [RCV000492286]|not provided [RCV004725114] Chr22:28695781 [GRCh38]
Chr22:29091769 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.847-1G>A single nucleotide variant Breast carcinoma [RCV001579299]|Familial cancer of breast [RCV000227592]|Hereditary cancer-predisposing syndrome [RCV002444910] Chr22:28703567 [GRCh38]
Chr22:29099555 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.793-3A>G single nucleotide variant Familial cancer of breast [RCV000227906]|Hereditary cancer-predisposing syndrome [RCV002418020] Chr22:28710062 [GRCh38]
Chr22:29106050 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.582C>T (p.Ser194=) single nucleotide variant Familial cancer of breast [RCV000234645]|Hereditary cancer-predisposing syndrome [RCV002356299]|not specified [RCV000428889] Chr22:28724987 [GRCh38]
Chr22:29120975 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1015C>T (p.His339Tyr) single nucleotide variant Familial cancer of breast [RCV000225929]|Hereditary cancer-predisposing syndrome [RCV000569800]|not provided [RCV000478108] Chr22:28696981 [GRCh38]
Chr22:29092969 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.679G>A (p.Gly227Arg) single nucleotide variant Familial cancer of breast [RCV000225976]|Hereditary cancer-predisposing syndrome [RCV001025661] Chr22:28719399 [GRCh38]
Chr22:29115387 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1164C>T (p.Pro388=) single nucleotide variant Familial cancer of breast [RCV001467033]|Hereditary cancer-predisposing syndrome [RCV003584579] Chr22:28695805 [GRCh38]
Chr22:29091793 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.892T>G (p.Tyr298Asp) single nucleotide variant Familial cancer of breast [RCV000233810]|Hereditary cancer-predisposing syndrome [RCV000569745] Chr22:28703521 [GRCh38]
Chr22:29099509 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1204G>A (p.Ala402Thr) single nucleotide variant Familial cancer of breast [RCV000226188]|Hereditary cancer-predisposing syndrome [RCV000571196]|not provided [RCV001284138] Chr22:28695765 [GRCh38]
Chr22:29091753 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1317G>T (p.Gln439His) single nucleotide variant CHEK2-related disorder [RCV004737385]|Familial cancer of breast [RCV000226245]|Hereditary cancer-predisposing syndrome [RCV000561448]|not provided [RCV004999154] Chr22:28695185 [GRCh38]
Chr22:29091173 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter) single nucleotide variant Familial cancer of breast [RCV000228482]|not provided [RCV001782725] Chr22:28734514 [GRCh38]
Chr22:29130502 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1043T>C (p.Leu348Ser) single nucleotide variant Familial cancer of breast [RCV000226665]|Hereditary cancer-predisposing syndrome [RCV000571718] Chr22:28696953 [GRCh38]
Chr22:29092941 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.432T>C (p.Phe144=) single nucleotide variant Familial cancer of breast [RCV000227278]|Hereditary cancer-predisposing syndrome [RCV000571486]|not specified [RCV000429008] Chr22:28725255 [GRCh38]
Chr22:29121243 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1100C>G (p.Thr367Ser) single nucleotide variant Familial cancer of breast [RCV000227403] Chr22:28695869 [GRCh38]
Chr22:29091857 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.615T>G (p.Thr205=) single nucleotide variant Familial cancer of breast [RCV002066583]|Hereditary cancer-predisposing syndrome [RCV001805212]|not specified [RCV000606033] Chr22:28719463 [GRCh38]
Chr22:29115451 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.839T>G (p.Leu280Arg) single nucleotide variant Familial cancer of breast [RCV001374211]|Hereditary cancer-predisposing syndrome [RCV000562844]|not specified [RCV003493652] Chr22:28710013 [GRCh38]
Chr22:29106001 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter) single nucleotide variant Familial cancer of breast [RCV003335487]|Hereditary cancer-predisposing syndrome [RCV000563054]|not provided [RCV001284625] Chr22:28703505 [GRCh38]
Chr22:29099493 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.443G>A (p.Arg148Lys) single nucleotide variant Familial cancer of breast [RCV001858098]|Hereditary cancer-predisposing syndrome [RCV000564133] Chr22:28725244 [GRCh38]
Chr22:29121232 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1292G>T (p.Arg431Met) single nucleotide variant Familial cancer of breast [RCV000687836]|Hereditary cancer-predisposing syndrome [RCV000564147]|not provided [RCV001755943] Chr22:28695210 [GRCh38]
Chr22:29091198 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.555C>A (p.Asn185Lys) single nucleotide variant Familial cancer of breast [RCV000635625]|Hereditary cancer-predisposing syndrome [RCV000563647] Chr22:28725014 [GRCh38]
Chr22:29121002 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser) single nucleotide variant Familial cancer of breast [RCV000709602]|Hereditary cancer-predisposing syndrome [RCV000563789] Chr22:28734634 [GRCh38]
Chr22:29130622 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_007194.4(CHEK2):c.1517C>T (p.Thr506Ile) single nucleotide variant Familial cancer of breast [RCV000552731]|Hereditary cancer-predisposing syndrome [RCV000566493] Chr22:28689160 [GRCh38]
Chr22:29085148 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) single nucleotide variant Familial cancer of breast [RCV000546521]|Hereditary cancer-predisposing syndrome [RCV000572698]|Li-Fraumeni syndrome [RCV005367381]|not provided [RCV001569385] Chr22:28687961 [GRCh38]
Chr22:29083949 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.506T>C (p.Phe169Ser) single nucleotide variant Familial cancer of breast [RCV001069665]|Hereditary cancer-predisposing syndrome [RCV000564763] Chr22:28725063 [GRCh38]
Chr22:29121051 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.10G>A (p.Glu4Lys) single nucleotide variant Familial cancer of breast [RCV001299517]|Hereditary cancer-predisposing syndrome [RCV000566272] Chr22:28734712 [GRCh38]
Chr22:29130700 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-1G>T single nucleotide variant Familial cancer of breast [RCV000558415]|not provided [RCV000256104] Chr22:28699938 [GRCh38]
Chr22:29095926 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.444+2T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607840] Chr22:28725241 [GRCh38]
Chr22:29121229 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.789G>T (p.Glu263Asp) single nucleotide variant Familial cancer of breast [RCV003500562]|Hereditary cancer-predisposing syndrome [RCV000564368] Chr22:28711912 [GRCh38]
Chr22:29107900 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1359A>G (p.Ala453=) single nucleotide variant Familial cancer of breast [RCV003767181]|Hereditary cancer-predisposing syndrome [RCV000564412] Chr22:28695143 [GRCh38]
Chr22:29091131 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.717G>A (p.Glu239=) single nucleotide variant Familial cancer of breast [RCV000635985]|Hereditary cancer-predisposing syndrome [RCV000566763] Chr22:28711984 [GRCh38]
Chr22:29107972 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) deletion Familial cancer of breast [RCV000540422]|Hereditary cancer-predisposing syndrome [RCV000564621]|not provided [RCV000657297]|not specified [RCV001002217] Chr22:28719461..28719462 [GRCh38]
Chr22:29115449..29115450 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1096-1G>C single nucleotide variant Familial cancer of breast [RCV000541307]|Hereditary breast ovarian cancer syndrome [RCV001280574]|Hereditary cancer-predisposing syndrome [RCV000565718] Chr22:28695874 [GRCh38]
Chr22:29091862 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.856A>T (p.Ile286Phe) single nucleotide variant Familial cancer of breast [RCV000695143]|not provided [RCV000520533] Chr22:28703557 [GRCh38]
Chr22:29099545 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.389T>C (p.Leu130Pro) single nucleotide variant Familial cancer of breast [RCV002526781]|Hereditary cancer-predisposing syndrome [RCV000567234] Chr22:28725298 [GRCh38]
Chr22:29121286 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1157G>A (p.Gly386Glu) single nucleotide variant Familial cancer of breast [RCV000543181]|Hereditary cancer-predisposing syndrome [RCV000564558] Chr22:28695812 [GRCh38]
Chr22:29091800 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1216C>A (p.Arg406Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV005357640]|CHEK2-related disorder [RCV004543261]|Familial cancer of breast [RCV000794841]|Hereditary cancer-predisposing syndrome [RCV000564639]|not provided [RCV001563527] Chr22:28695753 [GRCh38]
Chr22:29091741 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1549A>T (p.Thr517Ser) single nucleotide variant Familial cancer of breast [RCV000635936]|Hereditary cancer-predisposing syndrome [RCV000565900] Chr22:28687980 [GRCh38]
Chr22:29083968 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1620T>C (p.Ala540=) single nucleotide variant Familial cancer of breast [RCV000636041]|Hereditary cancer-predisposing syndrome [RCV000566816]|not provided [RCV001284481] Chr22:28687909 [GRCh38]
Chr22:29083897 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.3(CHEK2):c.1462-?_1542+?del deletion Familial cancer of breast [RCV000240587]|not provided [RCV000589230] Chr22:28689135..28689215 [GRCh38]
Chr22:29085123..29085203 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.230A>T (p.Asp77Val) single nucleotide variant Familial cancer of breast [RCV001237093]|Hereditary cancer-predisposing syndrome [RCV000566929]|not provided [RCV003144384] Chr22:28734492 [GRCh38]
Chr22:29130480 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1209G>A (p.Gly403=) single nucleotide variant Familial cancer of breast [RCV001415667]|Hereditary cancer-predisposing syndrome [RCV000566940] Chr22:28695760 [GRCh38]
Chr22:29091748 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.*59C>T single nucleotide variant CHEK2-related cancer predisposition [RCV005414493] Chr22:28687838 [GRCh38]
Chr22:29083826 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1186C>G (p.Leu396Val) single nucleotide variant Familial cancer of breast [RCV001060228]|Hereditary breast ovarian cancer syndrome [RCV005251113]|Hereditary cancer-predisposing syndrome [RCV002338819]|not provided [RCV000312579] Chr22:28695783 [GRCh38]
Chr22:29091771 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) single nucleotide variant Familial cancer of breast [RCV000475698]|Hereditary cancer-predisposing syndrome [RCV002257624]|not provided [RCV000282416]|not specified [RCV000780189] Chr22:28734522 [GRCh38]
Chr22:29130510 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-25C>T single nucleotide variant CHEK2-related cancer predisposition [RCV005414495] Chr22:28741787 [GRCh38]
Chr22:29137775 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+12A>G single nucleotide variant CHEK2-related cancer predisposition [RCV005414494]|Familial cancer of breast [RCV002057798]|not specified [RCV000611685] Chr22:28694020 [GRCh38]
Chr22:29090008 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1209dup (p.Tyr404fs) duplication not provided [RCV000358352] Chr22:28695759..28695760 [GRCh38]
Chr22:29091747..29091748 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) single nucleotide variant CHEK2-related cancer predisposition [RCV005355581]|Familial cancer of breast [RCV000465362]|Hereditary cancer-predisposing syndrome [RCV000573690]|not provided [RCV000399000]|not specified [RCV001193088] Chr22:28699838 [GRCh38]
Chr22:29095826 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) single nucleotide variant Familial cancer of breast [RCV000473696]|Hereditary cancer-predisposing syndrome [RCV000573852]|not provided [RCV000367328]|not specified [RCV003235169] Chr22:28689215 [GRCh38]
Chr22:29085203 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu) single nucleotide variant CHEK2-related cancer predisposition [RCV005357662]|Familial cancer of breast [RCV000709596]|Hereditary cancer-predisposing syndrome [RCV000568436]|not specified [RCV003320474] Chr22:28695852 [GRCh38]
Chr22:29091840 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.87_107dup (p.Gly37_Ile38insSerSerSerGlnSerGlnGly) duplication Familial cancer of breast [RCV001858289]|Hereditary cancer-predisposing syndrome [RCV000568904] Chr22:28734614..28734615 [GRCh38]
Chr22:29130602..29130603 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs) microsatellite Breast and/or ovarian cancer [RCV001270932]|Familial cancer of breast [RCV001385374]|Hereditary cancer-predisposing syndrome [RCV003584876]|not provided [RCV004720835] Chr22:28734621..28734622 [GRCh38]
Chr22:29130609..29130610 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.344T>G (p.Phe115Cys) single nucleotide variant Familial cancer of breast [RCV000804375]|Hereditary cancer-predisposing syndrome [RCV000564748] Chr22:28725343 [GRCh38]
Chr22:29121331 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.657A>G (p.Glu219=) single nucleotide variant Familial cancer of breast [RCV000931051]|Hereditary cancer-predisposing syndrome [RCV000567921] Chr22:28719421 [GRCh38]
Chr22:29115409 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.90C>T (p.Gly30=) single nucleotide variant Familial cancer of breast [RCV002527983]|Hereditary cancer-predisposing syndrome [RCV000567929] Chr22:28734632 [GRCh38]
Chr22:29130620 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.846+35T>C single nucleotide variant not specified [RCV003320516] Chr22:28709971 [GRCh38]
Chr22:29105959 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-6-2A>C single nucleotide variant not provided [RCV002281497] Chr22:28734729 [GRCh38]
Chr22:29130717 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1449C>G (p.His483Gln) single nucleotide variant Familial cancer of breast [RCV001853957]|Hereditary cancer-predisposing syndrome [RCV003159986]|not provided [RCV000585610] Chr22:28694044 [GRCh38]
Chr22:29090032 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+19A>G single nucleotide variant Familial cancer of breast [RCV002063978]|not specified [RCV000603005] Chr22:28703486 [GRCh38]
Chr22:29099474 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1284T>C (p.Ser428=) single nucleotide variant Familial cancer of breast [RCV001481950]|Hereditary cancer-predisposing syndrome [RCV000568632] Chr22:28695218 [GRCh38]
Chr22:29091206 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter) single nucleotide variant Familial cancer of breast [RCV003335491]|Hereditary cancer-predisposing syndrome [RCV000568296] Chr22:28699885 [GRCh38]
Chr22:29095873 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.623_626del (p.Asp208fs) deletion Familial cancer of breast [RCV003315495]|Hereditary cancer-predisposing syndrome [RCV004949058] Chr22:28719452..28719455 [GRCh38]
Chr22:29115440..29115443 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.-44G>C single nucleotide variant CHEK2-related cancer predisposition [RCV005414496] Chr22:28741806 [GRCh38]
Chr22:29137794 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1550C>G (p.Thr517Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000568694] Chr22:28687979 [GRCh38]
Chr22:29083967 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.555C>G (p.Asn185Lys) single nucleotide variant Familial cancer of breast [RCV001865715]|Hereditary cancer-predisposing syndrome [RCV000566863] Chr22:28725014 [GRCh38]
Chr22:29121002 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909G>A (p.Leu303=) single nucleotide variant Familial cancer of breast [RCV001858096]|Hereditary cancer-predisposing syndrome [RCV000567710] Chr22:28699937 [GRCh38]
Chr22:29095925 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.539G>T (p.Arg180Leu) single nucleotide variant Familial cancer of breast [RCV001211302]|Hereditary cancer-predisposing syndrome [RCV000579658] Chr22:28725030 [GRCh38]
Chr22:29121018 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1400T>C (p.Leu467Ser) single nucleotide variant Familial cancer of breast [RCV001348593]|Hereditary cancer-predisposing syndrome [RCV000580033] Chr22:28694093 [GRCh38]
Chr22:29090081 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1178C>G (p.Pro393Arg) single nucleotide variant CHEK2-related cancer predisposition [RCV005357725]|Familial cancer of breast [RCV002272294]|Hereditary cancer-predisposing syndrome [RCV000580063] Chr22:28695791 [GRCh38]
Chr22:29091779 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+1G>C single nucleotide variant Familial cancer of breast [RCV001867911]|Hereditary breast ovarian cancer syndrome [RCV000589468] Chr22:28703504 [GRCh38]
Chr22:29099492 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1542+7G>A single nucleotide variant Familial cancer of breast [RCV001442837]|Hereditary cancer-predisposing syndrome [RCV000582133]|not specified [RCV001797754] Chr22:28689128 [GRCh38]
Chr22:29085116 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.171T>C (p.Ser57=) single nucleotide variant Familial cancer of breast [RCV001478392]|Hereditary cancer-predisposing syndrome [RCV000582089]|not provided [RCV001284482] Chr22:28734551 [GRCh38]
Chr22:29130539 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.793-13C>T single nucleotide variant Familial cancer of breast [RCV005248350]|Hereditary cancer-predisposing syndrome [RCV000583855] Chr22:28710072 [GRCh38]
Chr22:29106060 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1259+17T>C single nucleotide variant Familial cancer of breast [RCV002061806]|Hereditary cancer-predisposing syndrome [RCV000583897]|not specified [RCV000609867] Chr22:28695693 [GRCh38]
Chr22:29091681 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.792+1G>A single nucleotide variant Familial cancer of breast [RCV000801436]|Gastric cancer [RCV003159980]|Hereditary cancer-predisposing syndrome [RCV000583981] Chr22:28711908 [GRCh38]
Chr22:29107896 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.592+16T>G single nucleotide variant Familial cancer of breast [RCV005091502]|Hereditary cancer-predisposing syndrome [RCV000583915] Chr22:28724961 [GRCh38]
Chr22:29120949 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1430C>T (p.Thr477Ile) single nucleotide variant CHEK2-related disorder [RCV004543306]|Familial cancer of breast [RCV001051029]|Hereditary cancer-predisposing syndrome [RCV002395509]|not provided [RCV000587181] Chr22:28694063 [GRCh38]
Chr22:29090051 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1345C>A (p.Pro449Thr) single nucleotide variant Familial cancer of breast [RCV001236319]|Hereditary cancer-predisposing syndrome [RCV000579443]|not provided [RCV001692210] Chr22:28695157 [GRCh38]
Chr22:29091145 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.992T>C (p.Met331Thr) single nucleotide variant Familial cancer of breast [RCV003500579]|Hereditary cancer-predisposing syndrome [RCV000582202] Chr22:28699854 [GRCh38]
Chr22:29095842 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-16T>C single nucleotide variant Familial cancer of breast [RCV002061814]|Hereditary cancer-predisposing syndrome [RCV000582268] Chr22:28712033 [GRCh38]
Chr22:29108021 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.673A>G (p.Thr225Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582401] Chr22:28719405 [GRCh38]
Chr22:29115393 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1482_1483del (p.Lys494fs) deletion Hereditary cancer-predisposing syndrome [RCV000583970] Chr22:28689194..28689195 [GRCh38]
Chr22:29085182..29085183 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.592+5TAT[2] microsatellite Familial cancer of breast [RCV002061811]|Hereditary cancer-predisposing syndrome [RCV000584041]|not provided [RCV001637093] Chr22:28724964..28724966 [GRCh38]
Chr22:29120952..29120954 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.908+11A>T single nucleotide variant Familial cancer of breast [RCV003607331]|Hereditary cancer-predisposing syndrome [RCV000584074] Chr22:28703494 [GRCh38]
Chr22:29099482 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+3865T>C single nucleotide variant CHEK2-related disorder [RCV004543289]|Hereditary cancer-predisposing syndrome [RCV000584203] Chr22:28730538 [GRCh38]
Chr22:29126526 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1259+1G>A single nucleotide variant Familial cancer of breast [RCV001860142]|Hereditary cancer-predisposing syndrome [RCV002431744]|Li-Fraumeni syndrome [RCV000587596] Chr22:28695709 [GRCh38]
Chr22:29091697 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del) deletion Familial cancer of breast [RCV001858095]|Hereditary cancer-predisposing syndrome [RCV000566049]|not provided [RCV003478205]|not specified [RCV003230543] Chr22:28695721..28695723 [GRCh38]
Chr22:29091709..29091711 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.576A>G (p.Ser192=) single nucleotide variant Familial cancer of breast [RCV001407921]|Hereditary cancer-predisposing syndrome [RCV000566128] Chr22:28724993 [GRCh38]
Chr22:29120981 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) single nucleotide variant Breast and/or ovarian cancer [RCV001798901]|Familial cancer of breast [RCV001443690]|Hereditary cancer-predisposing syndrome [RCV002257848]|not provided [RCV000579370]|not specified [RCV000780179] Chr22:28719466 [GRCh38]
Chr22:29115454 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1312G>C (p.Asp438His) single nucleotide variant Familial cancer of breast [RCV002529097]|Hereditary cancer-predisposing syndrome [RCV000580180] Chr22:28695190 [GRCh38]
Chr22:29091178 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1035C>T (p.His345=) single nucleotide variant CHEK2-related disorder [RCV004543288]|Familial cancer of breast [RCV000636020]|Hereditary cancer-predisposing syndrome [RCV000582436] Chr22:28696961 [GRCh38]
Chr22:29092949 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.710C>A (p.Ala237Asp) single nucleotide variant Familial cancer of breast [RCV001223674]|Hereditary cancer-predisposing syndrome [RCV000582359]|not provided [RCV003478315] Chr22:28711991 [GRCh38]
Chr22:29107979 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375+2T>A single nucleotide variant Familial cancer of breast [RCV000694321]|Hereditary cancer-predisposing syndrome [RCV000582469] Chr22:28695125 [GRCh38]
Chr22:29091113 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.86_90del (p.Gln29fs) deletion Hereditary cancer-predisposing syndrome [RCV000582445] Chr22:28734632..28734636 [GRCh38]
Chr22:29130620..29130624 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV001788295]|CHEK2-related cancer predisposition [RCV005027687]|Familial cancer of breast [RCV001386328]|Hereditary cancer-predisposing syndrome [RCV000584130] Chr22:28711944 [GRCh38]
Chr22:29107932 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.468C>T (p.Tyr156=) single nucleotide variant Familial cancer of breast [RCV001399884]|Hereditary cancer-predisposing syndrome [RCV000584329]|not provided [RCV000616292] Chr22:28725101 [GRCh38]
Chr22:29121089 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.896T>C (p.Ile299Thr) single nucleotide variant Familial cancer of breast [RCV001215586]|Hereditary cancer-predisposing syndrome [RCV000584218] Chr22:28703517 [GRCh38]
Chr22:29099505 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) single nucleotide variant CHEK2-related cancer predisposition [RCV005027681]|CHEK2-related cancer predisposition [RCV005367433]|Familial cancer of breast [RCV001853875]|Hereditary cancer-predisposing syndrome [RCV000580618]|not provided [RCV001561372] Chr22:28695872 [GRCh38]
Chr22:29091860 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.271_272delinsAA (p.Ala91Asn) indel Hereditary cancer-predisposing syndrome [RCV000580671] Chr22:28734450..28734451 [GRCh38]
Chr22:29130438..29130439 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.53G>C (p.Cys18Ser) single nucleotide variant Familial cancer of breast [RCV001056853]|Hereditary cancer-predisposing syndrome [RCV000582495] Chr22:28734669 [GRCh38]
Chr22:29130657 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.792+11A>G single nucleotide variant Familial cancer of breast [RCV002061815]|Hereditary cancer-predisposing syndrome [RCV000582548] Chr22:28711898 [GRCh38]
Chr22:29107886 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1096-16T>C single nucleotide variant Familial cancer of breast [RCV002529236]|Hereditary cancer-predisposing syndrome [RCV000582631] Chr22:28695889 [GRCh38]
Chr22:29091877 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.902T>G (p.Leu301Trp) single nucleotide variant Familial cancer of breast [RCV001853918]|Hereditary cancer-predisposing syndrome [RCV000582644] Chr22:28703511 [GRCh38]
Chr22:29099499 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+3G>A single nucleotide variant Familial cancer of breast [RCV005248349]|Hereditary cancer-predisposing syndrome [RCV000582666] Chr22:28694029 [GRCh38]
Chr22:29090017 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1542+6C>T single nucleotide variant Familial cancer of breast [RCV000702180]|Hereditary cancer-predisposing syndrome [RCV000584300] Chr22:28689129 [GRCh38]
Chr22:29085117 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1195G>T (p.Val399Phe) single nucleotide variant Familial cancer of breast [RCV003607312]|Hereditary cancer-predisposing syndrome [RCV000568640] Chr22:28695774 [GRCh38]
Chr22:29091762 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.876T>C (p.Phe292=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000566454] Chr22:28703537 [GRCh38]
Chr22:29099525 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.10:g.(?_29130385)_(29130715_?)dup duplication Familial cancer of breast [RCV000551037] Chr22:29130385..29130715 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1205_1206inv (p.Ala402Glu) inversion Hereditary cancer-predisposing syndrome [RCV000580741] Chr22:28695763..28695764 [GRCh38]
Chr22:29091751..29091752 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.305G>T (p.Gly102Val) single nucleotide variant Familial cancer of breast [RCV001368875]|Hereditary cancer-predisposing syndrome [RCV000580902] Chr22:28734417 [GRCh38]
Chr22:29130405 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs) deletion Familial cancer of breast [RCV000805624]|Hereditary cancer-predisposing syndrome [RCV000582748]|Hereditary nonpolyposis colon cancer [RCV005357746]|not provided [RCV003493676] Chr22:28703516..28703520 [GRCh38]
Chr22:29099504..29099508 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.580A>C (p.Ser194Arg) single nucleotide variant Familial cancer of breast [RCV000635852]|Hereditary cancer-predisposing syndrome [RCV000582815]|not provided [RCV003237952] Chr22:28724989 [GRCh38]
Chr22:29120977 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-6-8T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000582720] Chr22:28734735 [GRCh38]
Chr22:29130723 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+17T>C single nucleotide variant Familial cancer of breast [RCV002061810]|Hereditary cancer-predisposing syndrome [RCV000582727] Chr22:28734386 [GRCh38]
Chr22:29130374 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1543-12C>G single nucleotide variant Familial cancer of breast [RCV002061809]|Hereditary cancer-predisposing syndrome [RCV000584380] Chr22:28687998 [GRCh38]
Chr22:29083986 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.684-14G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000584407] Chr22:28712031 [GRCh38]
Chr22:29108019 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.654T>C (p.Asp218=) single nucleotide variant Familial cancer of breast [RCV001405567]|Hereditary cancer-predisposing syndrome [RCV000584556]|not specified [RCV000608969] Chr22:28719424 [GRCh38]
Chr22:29115412 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV005034151]|Familial cancer of breast [RCV000778091]|Hereditary cancer-predisposing syndrome [RCV000584578] Chr22:28734622 [GRCh38]
Chr22:29130610 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs) deletion Familial cancer of breast [RCV003336074]|Hereditary cancer-predisposing syndrome [RCV000584472] Chr22:28725097..28725118 [GRCh38]
Chr22:29121085..29121106 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.92C>T (p.Ser31Phe) single nucleotide variant Familial cancer of breast [RCV003500578]|Hereditary cancer-predisposing syndrome [RCV000584483] Chr22:28734630 [GRCh38]
Chr22:29130618 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1235G>A (p.Ser412Asn) single nucleotide variant Familial cancer of breast [RCV000819783]|Hereditary cancer-predisposing syndrome [RCV000581053]|not provided [RCV002221559] Chr22:28695734 [GRCh38]
Chr22:29091722 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser) single nucleotide variant Familial cancer of breast [RCV001361432]|Hereditary cancer-predisposing syndrome [RCV000581142]|not provided [RCV005416374]|not specified [RCV003226329] Chr22:28696941 [GRCh38]
Chr22:29092929 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.8G>C (p.Arg3Pro) single nucleotide variant Familial cancer of breast [RCV003767305]|Hereditary cancer-predisposing syndrome [RCV000581177] Chr22:28734714 [GRCh38]
Chr22:29130702 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+1G>T single nucleotide variant Familial cancer of breast [RCV000794905]|Hereditary cancer-predisposing syndrome [RCV000581207] Chr22:28694031 [GRCh38]
Chr22:29090019 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.592+12_592+13del deletion Hereditary cancer-predisposing syndrome [RCV000582892] Chr22:28724964..28724965 [GRCh38]
Chr22:29120952..29120953 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.908+18T>A single nucleotide variant Familial cancer of breast [RCV000662851]|Hereditary cancer-predisposing syndrome [RCV000582934]|not specified [RCV005231129] Chr22:28703487 [GRCh38]
Chr22:29099475 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1260-18C>G single nucleotide variant Familial cancer of breast [RCV003607330]|Hereditary cancer-predisposing syndrome [RCV000584669] Chr22:28695260 [GRCh38]
Chr22:29091248 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.593-7T>A single nucleotide variant Familial cancer of breast [RCV002061813]|Hereditary cancer-predisposing syndrome [RCV000584673] Chr22:28719492 [GRCh38]
Chr22:29115480 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.846+15_846+16del microsatellite Familial cancer of breast [RCV002061816]|Hereditary cancer-predisposing syndrome [RCV000584726] Chr22:28709990..28709991 [GRCh38]
Chr22:29105978..29105979 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1096-10T>C single nucleotide variant Familial cancer of breast [RCV000876089]|Hereditary cancer-predisposing syndrome [RCV000581180] Chr22:28695883 [GRCh38]
Chr22:29091871 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.738A>T (p.Val246=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581227] Chr22:28711963 [GRCh38]
Chr22:29107951 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.793-2A>G single nucleotide variant CHEK2-related cancer predisposition [RCV005392128]|Familial cancer of breast [RCV001209317]|Hereditary cancer-predisposing syndrome [RCV000583186] Chr22:28710061 [GRCh38]
Chr22:29106049 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1582G>T (p.Glu528Ter) single nucleotide variant Familial cancer of breast [RCV001860143]|Hereditary cancer-predisposing syndrome [RCV002404595]|not provided [RCV000590066] Chr22:28687947 [GRCh38]
Chr22:29083935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+5G>A single nucleotide variant Familial cancer of breast [RCV000635676]|Hereditary cancer-predisposing syndrome [RCV002257851]|not provided [RCV000590374] Chr22:28710001 [GRCh38]
Chr22:29105989 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.705G>A (p.Lys235=) single nucleotide variant Familial cancer of breast [RCV000981444]|Hereditary cancer-predisposing syndrome [RCV000581349] Chr22:28711996 [GRCh38]
Chr22:29107984 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.887A>T (p.Asp296Val) single nucleotide variant Familial cancer of breast [RCV001064112]|Hereditary cancer-predisposing syndrome [RCV000581313] Chr22:28703526 [GRCh38]
Chr22:29099514 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.274C>T (p.Pro92Ser) single nucleotide variant Familial cancer of breast [RCV001043988]|Hereditary cancer-predisposing syndrome [RCV000581416] Chr22:28734448 [GRCh38]
Chr22:29130436 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847-15_847-14insGG insertion Hereditary cancer-predisposing syndrome [RCV000581430] Chr22:28703580..28703581 [GRCh38]
Chr22:29099568..29099569 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1009-20A>G single nucleotide variant Familial cancer of breast [RCV002529235]|Hereditary cancer-predisposing syndrome [RCV000583144] Chr22:28697007 [GRCh38]
Chr22:29092995 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1260-20CT[3] microsatellite Familial cancer of breast [RCV002061807]|Hereditary cancer-predisposing syndrome [RCV000583225]|not provided [RCV001619802] Chr22:28695255..28695256 [GRCh38]
Chr22:29091243..29091244 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.593-20T>G single nucleotide variant Familial cancer of breast [RCV002061812]|Hereditary cancer-predisposing syndrome [RCV000583242] Chr22:28719505 [GRCh38]
Chr22:29115493 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.846+6TAT[2] microsatellite Hereditary cancer-predisposing syndrome [RCV000583259] Chr22:28709992..28709994 [GRCh38]
Chr22:29105980..29105982 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1542+11T>C single nucleotide variant Familial cancer of breast [RCV002061808]|Hereditary cancer-predisposing syndrome [RCV000583283] Chr22:28689124 [GRCh38]
Chr22:29085112 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.793-12T>C single nucleotide variant Familial cancer of breast [RCV003500577]|Hereditary cancer-predisposing syndrome [RCV000583293] Chr22:28710071 [GRCh38]
Chr22:29106059 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1259+14T>A single nucleotide variant CHEK2-related cancer predisposition [RCV005392127]|Familial cancer of breast [RCV002061805]|Hereditary cancer-predisposing syndrome [RCV000583355] Chr22:28695696 [GRCh38]
Chr22:29091684 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1060T>G (p.Leu354Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583443] Chr22:28696936 [GRCh38]
Chr22:29092924 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.622del (p.Asp208fs) deletion Familial cancer of breast [RCV001858287]|Hereditary cancer-predisposing syndrome [RCV000568969]|not provided [RCV004719881] Chr22:28719456 [GRCh38]
Chr22:29115444 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1342A>G (p.Ile448Val) single nucleotide variant Familial cancer of breast [RCV001224677]|Hereditary cancer-predisposing syndrome [RCV002384286]|not provided [RCV000586813] Chr22:28695160 [GRCh38]
Chr22:29091148 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.765G>A (p.Lys255=) single nucleotide variant Familial cancer of breast [RCV000636037]|Hereditary cancer-predisposing syndrome [RCV000581518]|not provided [RCV001569123]|not specified [RCV001193686] Chr22:28711936 [GRCh38]
Chr22:29107924 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter) duplication Breast cancer, susceptibility to [RCV001258052]|Familial cancer of breast [RCV000703607]|Hereditary cancer-predisposing syndrome [RCV000581639] Chr22:28719471..28719472 [GRCh38]
Chr22:29115459..29115460 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.319+6A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581584] Chr22:28734397 [GRCh38]
Chr22:29130385 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.280G>C (p.Ala94Pro) single nucleotide variant Familial cancer of breast [RCV001215810]|Hereditary cancer-predisposing syndrome [RCV000583422] Chr22:28734442 [GRCh38]
Chr22:29130430 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1377T>C (p.Ala459=) single nucleotide variant Familial cancer of breast [RCV001427243]|Hereditary cancer-predisposing syndrome [RCV000583479] Chr22:28694116 [GRCh38]
Chr22:29090104 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1009-14G>C single nucleotide variant Familial cancer of breast [RCV003607329]|Hereditary cancer-predisposing syndrome [RCV000581660] Chr22:28697001 [GRCh38]
Chr22:29092989 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.362G>T (p.Cys121Phe) single nucleotide variant Familial cancer of breast [RCV001860082]|Hereditary cancer-predisposing syndrome [RCV000581670] Chr22:28725325 [GRCh38]
Chr22:29121313 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.793-11G>A single nucleotide variant Familial cancer of breast [RCV000663321]|Hereditary cancer-predisposing syndrome [RCV000581846]|not provided [RCV000679679] Chr22:28710070 [GRCh38]
Chr22:29106058 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.996C>T (p.Leu332=) single nucleotide variant Familial cancer of breast [RCV000926794]|Hereditary cancer-predisposing syndrome [RCV000583631]|not specified [RCV000602036] Chr22:28699850 [GRCh38]
Chr22:29095838 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.847-14_847-2del deletion Familial cancer of breast [RCV002289861]|Hereditary cancer-predisposing syndrome [RCV000583579] Chr22:28703568..28703580 [GRCh38]
Chr22:29099556..29099568 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1552A>T (p.Ser518Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583678] Chr22:28687977 [GRCh38]
Chr22:29083965 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.814A>G (p.Thr272Ala) single nucleotide variant Familial cancer of breast [RCV001858166]|Hereditary cancer-predisposing syndrome [RCV000569153] Chr22:28710038 [GRCh38]
Chr22:29106026 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1558A>C (p.Lys520Gln) single nucleotide variant Familial cancer of breast [RCV003500550]|Hereditary cancer-predisposing syndrome [RCV000569191] Chr22:28687971 [GRCh38]
Chr22:29083959 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1574G>A (p.Gly525Glu) single nucleotide variant Familial cancer of breast [RCV002530252]|Hereditary cancer-predisposing syndrome [RCV000569238] Chr22:28687955 [GRCh38]
Chr22:29083943 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs) deletion Familial cancer of breast [RCV001217823]|Hereditary cancer-predisposing syndrome [RCV000581889] Chr22:28695736..28695760 [GRCh38]
Chr22:29091724..29091748 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.467A>T (p.Tyr156Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000583776] Chr22:28725102 [GRCh38]
Chr22:29121090 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-3T>C single nucleotide variant Familial cancer of breast [RCV001313014]|Hereditary cancer-predisposing syndrome [RCV000583713] Chr22:28712020 [GRCh38]
Chr22:29108008 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1095+1G>T single nucleotide variant Familial cancer of breast [RCV002530795]|Hereditary cancer-predisposing syndrome [RCV000583746] Chr22:28696900 [GRCh38]
Chr22:29092888 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.353A>G (p.Asp118Gly) single nucleotide variant Familial cancer of breast [RCV002530937]|Hereditary cancer-predisposing syndrome [RCV004024685]|not provided [RCV000586905] Chr22:28725334 [GRCh38]
Chr22:29121322 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+11T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000581907] Chr22:28724966 [GRCh38]
Chr22:29120954 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.908+18del deletion Familial cancer of breast [RCV002061818]|Hereditary cancer-predisposing syndrome [RCV000581938]|not provided [RCV001672886] Chr22:28703487 [GRCh38]
Chr22:29099475 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1462-12A>G single nucleotide variant CHEK2-related cancer predisposition [RCV005034152]|Familial cancer of breast [RCV001853917]|Hereditary cancer-predisposing syndrome [RCV000581958] Chr22:28689227 [GRCh38]
Chr22:29085215 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs) deletion Familial cancer of breast [RCV000802961]|Hereditary cancer-predisposing syndrome [RCV000582032]|Malignant tumor of breast [RCV001355310] Chr22:28710034..28710035 [GRCh38]
Chr22:29106022..29106023 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.847-30_847-11dup duplication CHEK2-related cancer predisposition [RCV005367438]|Familial cancer of breast [RCV002061817]|Hereditary cancer-predisposing syndrome [RCV000582108]|not provided [RCV001712595] Chr22:28703576..28703577 [GRCh38]
Chr22:29099564..29099565 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.593-9C>T single nucleotide variant Familial cancer of breast [RCV000409511]|not provided [RCV000859757] Chr22:28719494 [GRCh38]
Chr22:29115482 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.603T>G (p.Phe201Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571711] Chr22:28719475 [GRCh38]
Chr22:29115463 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.3(CHEK2):c.909delG deletion Familial cancer of breast [RCV000409709] Chr22:28699937 [GRCh38]
Chr22:29095925 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1037G>C (p.Arg346Pro) single nucleotide variant Familial cancer of breast [RCV000533037] Chr22:28696959 [GRCh38]
Chr22:29092947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.152_155dup (p.Ser53fs) duplication Familial cancer of breast [RCV000533140] Chr22:28734566..28734567 [GRCh38]
Chr22:29130554..29130555 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1462-20T>C single nucleotide variant Familial cancer of breast [RCV000410333]|Hereditary breast ovarian cancer syndrome [RCV002225609]|Hereditary cancer-predisposing syndrome [RCV000582986]|not provided [RCV001613257] Chr22:28689235 [GRCh38]
Chr22:29085223 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1095+19G>A single nucleotide variant CHEK2-related cancer predisposition [RCV005235269]|Familial cancer of breast [RCV000411005]|Hereditary cancer-predisposing syndrome [RCV000582297]|not provided [RCV001528783]|not specified [RCV003493563] Chr22:28696882 [GRCh38]
Chr22:29092870 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1008+13C>T single nucleotide variant CHEK2-related cancer predisposition [RCV005398500]|Familial cancer of breast [RCV000411567]|Hereditary cancer-predisposing syndrome [RCV000580155]|not specified [RCV000418309] Chr22:28699825 [GRCh38]
Chr22:29095813 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.650G>T (p.Arg217Ile) single nucleotide variant Familial cancer of breast [RCV000533182]|Hereditary cancer-predisposing syndrome [RCV003584653] Chr22:28719428 [GRCh38]
Chr22:29115416 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.817G>C (p.Glu273Gln) single nucleotide variant Familial cancer of breast [RCV000525631]|Hereditary cancer-predisposing syndrome [RCV002431574] Chr22:28710035 [GRCh38]
Chr22:29106023 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1108G>C (p.Gly370Arg) single nucleotide variant Familial cancer of breast [RCV000529789] Chr22:28695861 [GRCh38]
Chr22:29091849 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.556A>G (p.Asn186Asp) single nucleotide variant Familial cancer of breast [RCV000533757]|Hereditary cancer-predisposing syndrome [RCV004023841] Chr22:28725013 [GRCh38]
Chr22:29121001 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.372C>A (p.Cys124Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573147] Chr22:28725315 [GRCh38]
Chr22:29121303 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.384A>G (p.Pro128=) single nucleotide variant Familial cancer of breast [RCV000527408]|Hereditary cancer-predisposing syndrome [RCV000777677] Chr22:28725303 [GRCh38]
Chr22:29121291 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1149C>T (p.Thr383=) single nucleotide variant Familial cancer of breast [RCV000530568] Chr22:28695820 [GRCh38]
Chr22:29091808 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1312G>A (p.Asp438Asn) single nucleotide variant Familial cancer of breast [RCV000803213]|Hereditary cancer-predisposing syndrome [RCV000574814] Chr22:28695190 [GRCh38]
Chr22:29091178 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28725237)_(28725373_?)del deletion Familial cancer of breast [RCV000557674] Chr22:28725237..28725373 [GRCh38]
Chr22:29121225..29121361 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.179T>G (p.Leu60Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570813] Chr22:28734543 [GRCh38]
Chr22:29130531 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.137T>G (p.Met46Arg) single nucleotide variant Familial cancer of breast [RCV000810443]|Hereditary cancer-predisposing syndrome [RCV000572420] Chr22:28734585 [GRCh38]
Chr22:29130573 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1096-10T>A single nucleotide variant Familial cancer of breast [RCV000528715] Chr22:28695883 [GRCh38]
Chr22:29091871 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1427C>G (p.Thr476Arg) single nucleotide variant Familial cancer of breast [RCV001056976]|Hereditary cancer-predisposing syndrome [RCV000569480] Chr22:28694066 [GRCh38]
Chr22:29090054 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.884A>G (p.Glu295Gly) single nucleotide variant Familial cancer of breast [RCV001063566]|Hereditary cancer-predisposing syndrome [RCV000570976] Chr22:28703529 [GRCh38]
Chr22:29099517 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1573G>A (p.Gly525Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571024] Chr22:28687956 [GRCh38]
Chr22:29083944 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1128A>G (p.Gly376=) single nucleotide variant Familial cancer of breast [RCV000898944]|Hereditary cancer-predisposing syndrome [RCV000571033]|Hereditary nonpolyposis colon cancer [RCV005357660] Chr22:28695841 [GRCh38]
Chr22:29091829 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1205_1206delinsTC (p.Ala402Val) indel Familial cancer of breast [RCV000537997]|Hereditary cancer-predisposing syndrome [RCV000775869]|Malignant tumor of breast [RCV001358524]|not provided [RCV000985700] Chr22:28695763..28695764 [GRCh38]
Chr22:29091751..29091752 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.326_327del (p.Val109fs) microsatellite Familial cancer of breast [RCV000538143] Chr22:28725360..28725361 [GRCh38]
Chr22:29121348..29121349 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.14C>G (p.Ser5Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575010] Chr22:28734708 [GRCh38]
Chr22:29130696 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.561T>C (p.Ser187=) single nucleotide variant Familial cancer of breast [RCV002060464]|Hereditary cancer-predisposing syndrome [RCV000572748] Chr22:28725008 [GRCh38]
Chr22:29120996 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NC_000022.10:g.(?_29105988)_(29106053_?)del deletion Familial cancer of breast [RCV000558606] Chr22:29105988..29106053 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.304_307del (p.Gly102fs) microsatellite Familial cancer of breast [RCV000576340] Chr22:28734415..28734418 [GRCh38]
Chr22:29130403..29130406 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.931G>C (p.Asp311His) single nucleotide variant Familial cancer of breast [RCV002526829]|Hereditary cancer-predisposing syndrome [RCV000571472]|not provided [RCV002476225] Chr22:28699915 [GRCh38]
Chr22:29095903 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1230C>T (p.Cys410=) single nucleotide variant Familial cancer of breast [RCV001498084]|Hereditary cancer-predisposing syndrome [RCV000574503] Chr22:28695739 [GRCh38]
Chr22:29091727 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.(?_28695121)_(28703572_?)del deletion Familial cancer of breast [RCV000541073] Chr22:28695121..28703572 [GRCh38]
Chr22:29091109..29099560 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.812A>C (p.Glu271Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574515] Chr22:28710040 [GRCh38]
Chr22:29106028 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1100_1101del (p.Thr367fs) deletion Nephroblastoma [RCV000505568] Chr22:28695868..28695869 [GRCh38]
Chr22:29091856..29091857 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.602T>G (p.Phe201Cys) single nucleotide variant Familial cancer of breast [RCV000696718]|Hereditary cancer-predisposing syndrome [RCV000568371] Chr22:28719476 [GRCh38]
Chr22:29115464 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_007194.4(CHEK2):c.-27G>A single nucleotide variant not specified [RCV000423625] Chr22:28741789 [GRCh38]
Chr22:29137777 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.726A>G (p.Thr242=) single nucleotide variant Familial cancer of breast [RCV001462828]|Hereditary cancer-predisposing syndrome [RCV001026215]|not specified [RCV000423754] Chr22:28711975 [GRCh38]
Chr22:29107963 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.213C>G (p.Leu71=) single nucleotide variant Familial cancer of breast [RCV000969709]|Hereditary cancer-predisposing syndrome [RCV000775889]|not specified [RCV000423790] Chr22:28734509 [GRCh38]
Chr22:29130497 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1260-18C>T single nucleotide variant Familial cancer of breast [RCV002062503]|Hereditary cancer-predisposing syndrome [RCV000579956]|not specified [RCV000430957] Chr22:28695260 [GRCh38]
Chr22:29091248 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1362A>G (p.Glu454=) single nucleotide variant Familial cancer of breast [RCV002061599]|Hereditary cancer-predisposing syndrome [RCV004609375]|not specified [RCV000444917] Chr22:28695140 [GRCh38]
Chr22:29091128 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1368A>T (p.Ser456=) single nucleotide variant Familial cancer of breast [RCV001398089]|Hereditary cancer-predisposing syndrome [RCV002379360]|not specified [RCV000445027] Chr22:28695134 [GRCh38]
Chr22:29091122 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1521T>C (p.Ala507=) single nucleotide variant Familial cancer of breast [RCV001411776]|Hereditary cancer-predisposing syndrome [RCV000708632]|not specified [RCV000445038] Chr22:28689156 [GRCh38]
Chr22:29085144 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.99A>G (p.Ser33=) single nucleotide variant Familial cancer of breast [RCV000990399]|Hereditary cancer-predisposing syndrome [RCV001019967]|not specified [RCV000427572] Chr22:28734623 [GRCh38]
Chr22:29130611 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.444+16C>T single nucleotide variant not specified [RCV000441487] Chr22:28725227 [GRCh38]
Chr22:29121215 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1543-20C>G single nucleotide variant Familial cancer of breast [RCV001861534]|Hereditary cancer-predisposing syndrome [RCV001180797]|not specified [RCV000441668] Chr22:28688006 [GRCh38]
Chr22:29083994 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+7C>T single nucleotide variant Familial cancer of breast [RCV000468836]|Hereditary cancer-predisposing syndrome [RCV000579827]|not specified [RCV000424187] Chr22:28734396 [GRCh38]
Chr22:29130384 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.684-20A>G single nucleotide variant Familial cancer of breast [RCV002058888]|Hereditary cancer-predisposing syndrome [RCV000580028]|not specified [RCV000431418] Chr22:28712037 [GRCh38]
Chr22:29108025 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-20G>C single nucleotide variant not specified [RCV000434793] Chr22:28741782 [GRCh38]
Chr22:29137770 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.*16C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000580101]|not specified [RCV000441946] Chr22:28687881 [GRCh38]
Chr22:29083869 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV004577527]|Familial cancer of breast [RCV000576726]|Hereditary cancer-predisposing syndrome [RCV001015209]|not provided [RCV000522849] Chr22:28734490 [GRCh38]
Chr22:29130478 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.908+14T>G single nucleotide variant Familial cancer of breast [RCV002062390]|Hereditary cancer-predisposing syndrome [RCV000775873]|not specified [RCV000418151] Chr22:28703491 [GRCh38]
Chr22:29099479 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.909-18C>T single nucleotide variant Familial cancer of breast [RCV002061582]|not provided [RCV001573298]|not specified [RCV000424305] Chr22:28699955 [GRCh38]
Chr22:29095943 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1500T>C (p.Ser500=) single nucleotide variant Familial cancer of breast [RCV000476061]|Hereditary cancer-predisposing syndrome [RCV000563064]|not specified [RCV000442145] Chr22:28689177 [GRCh38]
Chr22:29085165 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.444+20G>T single nucleotide variant Familial cancer of breast [RCV002061355]|Hereditary cancer-predisposing syndrome [RCV000582007]|not specified [RCV000424625] Chr22:28725223 [GRCh38]
Chr22:29121211 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1259+20C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001180799]|not specified [RCV000435078] Chr22:28695690 [GRCh38]
Chr22:29091678 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-7+10A>G single nucleotide variant not specified [RCV000438627] Chr22:28741759 [GRCh38]
Chr22:29137747 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.388C>T (p.Leu130=) single nucleotide variant Familial cancer of breast [RCV000539994]|Hereditary cancer-predisposing syndrome [RCV000575675]|not specified [RCV000438715] Chr22:28725299 [GRCh38]
Chr22:29121287 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1116C>A (p.Ser372=) single nucleotide variant Familial cancer of breast [RCV001417288]|Hereditary cancer-predisposing syndrome [RCV001017374]|not specified [RCV000442227] Chr22:28695853 [GRCh38]
Chr22:29091841 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) single nucleotide variant Familial cancer of breast [RCV000990387] Chr22:28695786 [GRCh38]
Chr22:29091774 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1040A>C (p.Asp347Ala) single nucleotide variant Breast neoplasm [RCV000429856] Chr22:28696956 [GRCh38]
Chr22:29092944 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1375+8T>A single nucleotide variant not specified [RCV000418708] Chr22:28695119 [GRCh38]
Chr22:29091107 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.593-15T>A single nucleotide variant Familial cancer of breast [RCV000662854]|Hereditary cancer-predisposing syndrome [RCV000580819]|Li-Fraumeni syndrome [RCV005355752]|not specified [RCV000435307] Chr22:28719500 [GRCh38]
Chr22:29115488 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.592+9A>G single nucleotide variant Familial cancer of breast [RCV001089179]|Hereditary cancer-predisposing syndrome [RCV000777676]|not provided [RCV000759043]|not specified [RCV000428609] Chr22:28724968 [GRCh38]
Chr22:29120956 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.978C>T (p.Leu326=) single nucleotide variant Familial cancer of breast [RCV001484374]|Hereditary cancer-predisposing syndrome [RCV000565866]|not provided [RCV004584709]|not specified [RCV000419102] Chr22:28699868 [GRCh38]
Chr22:29095856 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.955C>T (p.Leu319=) single nucleotide variant Familial cancer of breast [RCV000466051]|not specified [RCV000419114] Chr22:28699891 [GRCh38]
Chr22:29095879 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1518A>G (p.Thr506=) single nucleotide variant Familial cancer of breast [RCV000635967]|Hereditary cancer-predisposing syndrome [RCV001011883]|not provided [RCV001705557] Chr22:28689159 [GRCh38]
Chr22:29085147 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.792+17G>A single nucleotide variant Familial cancer of breast [RCV002063507]|Hereditary cancer-predisposing syndrome [RCV001183960]|not provided [RCV005230357]|not specified [RCV000422055] Chr22:28711892 [GRCh38]
Chr22:29107880 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.792+19C>G single nucleotide variant not specified [RCV000422089] Chr22:28711890 [GRCh38]
Chr22:29107878 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1259+7A>G single nucleotide variant Familial cancer of breast [RCV002063535]|not specified [RCV000429021] Chr22:28695703 [GRCh38]
Chr22:29091691 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1009-4G>A single nucleotide variant Familial cancer of breast [RCV005246977]|Hereditary cancer-predisposing syndrome [RCV004948285]|not specified [RCV000429102] Chr22:28696991 [GRCh38]
Chr22:29092979 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1476G>A (p.Lys492=) single nucleotide variant Familial cancer of breast [RCV001404866]|Hereditary cancer-predisposing syndrome [RCV002393024]|not specified [RCV000435896] Chr22:28689201 [GRCh38]
Chr22:29085189 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.908+10A>G single nucleotide variant CHEK2-related disorder [RCV004530534]|Familial cancer of breast [RCV000464086]|Hereditary cancer-predisposing syndrome [RCV000771774]|not specified [RCV000435978] Chr22:28703495 [GRCh38]
Chr22:29099483 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.908+19A>T single nucleotide variant CHEK2-related cancer predisposition [RCV005235282]|Familial cancer of breast [RCV002064942]|Hereditary cancer-predisposing syndrome [RCV000580259]|not specified [RCV000425584] Chr22:28703486 [GRCh38]
Chr22:29099474 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.847-7T>G single nucleotide variant Familial cancer of breast [RCV001475129]|not specified [RCV000425715] Chr22:28703573 [GRCh38]
Chr22:29099561 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.433C>A (p.Arg145=) single nucleotide variant Familial cancer of breast [RCV000929602]|Hereditary cancer-predisposing syndrome [RCV000581106]|not provided [RCV000436224] Chr22:28725254 [GRCh38]
Chr22:29121242 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.793-17T>C single nucleotide variant Familial cancer of breast [RCV000662961]|Hereditary cancer-predisposing syndrome [RCV000581701]|not specified [RCV000436257] Chr22:28710076 [GRCh38]
Chr22:29106064 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.-17G>A single nucleotide variant not specified [RCV000443376] Chr22:28741779 [GRCh38]
Chr22:29137767 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.846+12T>C single nucleotide variant Familial cancer of breast [RCV002060053]|not specified [RCV000443477] Chr22:28709994 [GRCh38]
Chr22:29105982 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1542+16A>G single nucleotide variant Familial cancer of breast [RCV001861603]|not specified [RCV000432891] Chr22:28689119 [GRCh38]
Chr22:29085107 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.390G>A (p.Leu130=) single nucleotide variant Familial cancer of breast [RCV002062802]|Hereditary cancer-predisposing syndrome [RCV004022405]|not specified [RCV000426161] Chr22:28725297 [GRCh38]
Chr22:29121285 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1611T>A (p.Ala537=) single nucleotide variant Familial cancer of breast [RCV001434372]|Hereditary cancer-predisposing syndrome [RCV001012419]|not specified [RCV000426204] Chr22:28687918 [GRCh38]
Chr22:29083906 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1461+8T>C single nucleotide variant Familial cancer of breast [RCV000875463]|Hereditary cancer-predisposing syndrome [RCV000775913]|not specified [RCV000436626] Chr22:28694024 [GRCh38]
Chr22:29090012 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1375+15G>T single nucleotide variant not specified [RCV000443811] Chr22:28695112 [GRCh38]
Chr22:29091100 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter) single nucleotide variant Familial cancer of breast [RCV003335322]|not provided [RCV000432752] Chr22:28710029 [GRCh38]
Chr22:29106017 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.-28C>A single nucleotide variant not specified [RCV000433421] Chr22:28741790 [GRCh38]
Chr22:29137778 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=) single nucleotide variant Familial cancer of breast [RCV000465154]|Hereditary cancer-predisposing syndrome [RCV001012329]|not specified [RCV000436796] Chr22:28687939 [GRCh38]
Chr22:29083927 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.54T>C (p.Cys18=) single nucleotide variant Familial cancer of breast [RCV002522612]|not specified [RCV000444090] Chr22:28734668 [GRCh38]
Chr22:29130656 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.593-16C>T single nucleotide variant Familial cancer of breast [RCV003500536]|not specified [RCV000423033] Chr22:28719501 [GRCh38]
Chr22:29115489 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.105C>T (p.Ser35=) single nucleotide variant Familial cancer of breast [RCV001444110]|Hereditary cancer-predisposing syndrome [RCV002402149]|not specified [RCV000426505] Chr22:28734617 [GRCh38]
Chr22:29130605 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.593-9C>G single nucleotide variant Familial cancer of breast [RCV001407203]|not specified [RCV000433602] Chr22:28719494 [GRCh38]
Chr22:29115482 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-7+11T>C single nucleotide variant not specified [RCV000433648] Chr22:28741758 [GRCh38]
Chr22:29137746 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-32T>C single nucleotide variant not specified [RCV000433668] Chr22:28741794 [GRCh38]
Chr22:29137782 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1197T>C (p.Val399=) single nucleotide variant Familial cancer of breast [RCV000467751]|Hereditary cancer-predisposing syndrome [RCV000573352]|not provided [RCV001712184] Chr22:28695772 [GRCh38]
Chr22:29091760 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.-7+8A>G single nucleotide variant not specified [RCV000440642] Chr22:28741761 [GRCh38]
Chr22:29137749 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1299A>G (p.Gln433=) single nucleotide variant Familial cancer of breast [RCV005247007]|Hereditary cancer-predisposing syndrome [RCV004609381]|not specified [RCV000420158] Chr22:28695203 [GRCh38]
Chr22:29091191 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.504C>T (p.Thr168=) single nucleotide variant not specified [RCV000420296] Chr22:28725065 [GRCh38]
Chr22:29121053 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-6-20T>C single nucleotide variant not specified [RCV000423178] Chr22:28734747 [GRCh38]
Chr22:29130735 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.908+18T>C single nucleotide variant Familial cancer of breast [RCV002063408]|not specified [RCV000423330] Chr22:28703487 [GRCh38]
Chr22:29099475 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+8C>A single nucleotide variant Familial cancer of breast [RCV000933216]|not specified [RCV000423336] Chr22:28734395 [GRCh38]
Chr22:29130383 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.-40G>C single nucleotide variant not specified [RCV000426838] Chr22:28741802 [GRCh38]
Chr22:29137790 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.918G>C (p.Gly306=) single nucleotide variant Familial cancer of breast [RCV000551720]|Hereditary cancer-predisposing syndrome [RCV000775906]|not specified [RCV000433776] Chr22:28699928 [GRCh38]
Chr22:29095916 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.*6G>A single nucleotide variant Familial cancer of breast [RCV005246944]|Hereditary cancer-predisposing syndrome [RCV000579574]|not specified [RCV000440833] Chr22:28687891 [GRCh38]
Chr22:29083879 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.-28C>T single nucleotide variant not specified [RCV000440870] Chr22:28741790 [GRCh38]
Chr22:29137778 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1461+4G>A single nucleotide variant Familial cancer of breast [RCV000459808]|Hereditary cancer-predisposing syndrome [RCV000584112]|not provided [RCV004999402]|not specified [RCV000420551] Chr22:28694028 [GRCh38]
Chr22:29090016 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.*19G>A single nucleotide variant not specified [RCV000423504] Chr22:28687878 [GRCh38]
Chr22:29083866 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.942G>A (p.Val314=) single nucleotide variant Familial cancer of breast [RCV002521549]|Hereditary cancer-predisposing syndrome [RCV002446660]|not specified [RCV000430620] Chr22:28699904 [GRCh38]
Chr22:29095892 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1095+8A>G single nucleotide variant Familial cancer of breast [RCV001078507]|Hereditary cancer-predisposing syndrome [RCV000776557]|not specified [RCV000441205] Chr22:28696893 [GRCh38]
Chr22:29092881 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_007194.4(CHEK2):c.1196T>A (p.Val399Asp) single nucleotide variant Familial cancer of breast [RCV000462827]|Hereditary cancer-predisposing syndrome [RCV000573606]|Hereditary nonpolyposis colon cancer [RCV005355846]|not provided [RCV004999467] Chr22:28695773 [GRCh38]
Chr22:29091761 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) single nucleotide variant Familial cancer of breast [RCV000466569]|Familial cancer of breast [RCV000765619]|Hereditary cancer-predisposing syndrome [RCV000582321]|not provided [RCV004999468] Chr22:28699909 [GRCh38]
Chr22:29095897 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly) single nucleotide variant CHEK2-related cancer predisposition [RCV005365329]|Familial cancer of breast [RCV000473992]|Hereditary cancer-predisposing syndrome [RCV000568899]|not provided [RCV003319357] Chr22:28689172 [GRCh38]
Chr22:29085160 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.275C>G (p.Pro92Arg) single nucleotide variant Familial cancer of breast [RCV000473998]|Hereditary cancer-predisposing syndrome [RCV000582868] Chr22:28734447 [GRCh38]
Chr22:29130435 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.686G>A (p.Gly229Asp) single nucleotide variant Familial cancer of breast [RCV000474125]|Familial cancer of breast [RCV002481443]|Hereditary cancer-predisposing syndrome [RCV000564322] Chr22:28712015 [GRCh38]
Chr22:29108003 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687743)_(28741834_?)del deletion Familial cancer of breast [RCV000197635] Chr22:28687743..28741834 [GRCh38]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.-7+6T>C single nucleotide variant not provided [RCV000483269] Chr22:28741763 [GRCh38]
Chr22:29137751 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28710006)_(28719485_?)del deletion Familial cancer of breast [RCV000463075] Chr22:28710006..28719485 [GRCh38]
Chr22:29105994..29115473 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.411A>C (p.Arg137=) single nucleotide variant Familial cancer of breast [RCV000463145]|Hereditary cancer-predisposing syndrome [RCV000570218]|not provided [RCV000608278] Chr22:28725276 [GRCh38]
Chr22:29121264 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.772A>T (p.Ile258Phe) single nucleotide variant Familial cancer of breast [RCV000466753] Chr22:28711929 [GRCh38]
Chr22:29107917 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro) single nucleotide variant Familial cancer of breast [RCV000470563]|Hereditary cancer-predisposing syndrome [RCV000575592]|not provided [RCV001729602] Chr22:28734607 [GRCh38]
Chr22:29130595 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr) single nucleotide variant Familial cancer of breast [RCV000474200]|Hereditary cancer-predisposing syndrome [RCV000563163]|not specified [RCV002282155] Chr22:28711952 [GRCh38]
Chr22:29107940 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.934A>G (p.Lys312Glu) single nucleotide variant CHEK2-related cancer predisposition [RCV005027554]|Familial cancer of breast [RCV000559307]|Hereditary cancer-predisposing syndrome [RCV000574009]|not provided [RCV000479455] Chr22:28699912 [GRCh38]
Chr22:29095900 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.683+4A>G single nucleotide variant Familial cancer of breast [RCV001856859]|Hereditary cancer-predisposing syndrome [RCV002367643]|not provided [RCV000483804] Chr22:28719391 [GRCh38]
Chr22:29115379 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1278T>G (p.Pro426=) single nucleotide variant Familial cancer of breast [RCV000459366] Chr22:28695224 [GRCh38]
Chr22:29091212 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.316C>G (p.Leu106Val) single nucleotide variant Familial cancer of breast [RCV000459397]|Hereditary nonpolyposis colon cancer [RCV005365330] Chr22:28734406 [GRCh38]
Chr22:29130394 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.119G>C (p.Ser40Thr) single nucleotide variant Familial cancer of breast [RCV000463217] Chr22:28734603 [GRCh38]
Chr22:29130591 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1542G>T (p.Gln514His) single nucleotide variant Familial cancer of breast [RCV000467127]|Hereditary cancer-predisposing syndrome [RCV000563610]|not provided [RCV001764430] Chr22:28689135 [GRCh38]
Chr22:29085123 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687743)_(28687986_?)del deletion Familial cancer of breast [RCV000470664] Chr22:28687743..28687986 [GRCh38]
Chr22:29083731..29083974 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.586A>G (p.Asn196Asp) single nucleotide variant Familial cancer of breast [RCV000470668]|Hereditary cancer-predisposing syndrome [RCV000775754] Chr22:28724983 [GRCh38]
Chr22:29120971 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1268G>A (p.Gly423Glu) single nucleotide variant Familial cancer of breast [RCV001856822]|Hereditary cancer-predisposing syndrome [RCV000574107]|not provided [RCV000479779] Chr22:28695234 [GRCh38]
Chr22:29091222 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.486_488del (p.His163del) deletion Familial cancer of breast [RCV001320639]|Hereditary cancer-predisposing syndrome [RCV004609397]|not provided [RCV000479812] Chr22:28725081..28725083 [GRCh38]
Chr22:29121069..29121071 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1084T>C (p.Cys362Arg) single nucleotide variant Familial cancer of breast [RCV000635618]|Hereditary cancer-predisposing syndrome [RCV000561532]|not provided [RCV000479824] Chr22:28696912 [GRCh38]
Chr22:29092900 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1196T>G (p.Val399Gly) single nucleotide variant Familial cancer of breast [RCV001342431]|Hereditary cancer-predisposing syndrome [RCV002341132]|not provided [RCV000479954] Chr22:28695773 [GRCh38]
Chr22:29091761 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.445-15T>A single nucleotide variant Familial cancer of breast [RCV003766665]|not provided [RCV000479976] Chr22:28725139 [GRCh38]
Chr22:29121127 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.-7+8A>C single nucleotide variant not provided [RCV000483845] Chr22:28741761 [GRCh38]
Chr22:29137749 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.593-20_593-18del deletion Familial cancer of breast [RCV002063691]|Hereditary cancer-predisposing syndrome [RCV000579706]|not specified [RCV000484078] Chr22:28719503..28719505 [GRCh38]
Chr22:29115491..29115493 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.445-9C>G single nucleotide variant Familial cancer of breast [RCV001079878]|Hereditary cancer-predisposing syndrome [RCV001180854]|not provided [RCV000484094] Chr22:28725133 [GRCh38]
Chr22:29121121 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys) single nucleotide variant Familial cancer of breast [RCV000459664]|Hereditary cancer-predisposing syndrome [RCV000775719] Chr22:28725351 [GRCh38]
Chr22:29121339 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1083C>T (p.Asp361=) single nucleotide variant Familial cancer of breast [RCV000463397]|Hereditary cancer-predisposing syndrome [RCV000777668]|not provided [RCV003478037]|not specified [RCV000609779] Chr22:28696913 [GRCh38]
Chr22:29092901 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.397A>G (p.Thr133Ala) single nucleotide variant Familial cancer of breast [RCV000463493]|Hereditary cancer-predisposing syndrome [RCV002374790] Chr22:28725290 [GRCh38]
Chr22:29121278 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.445-10T>C single nucleotide variant CHEK2-related cancer predisposition [RCV005355901]|Familial cancer of breast [RCV000463557]|Hereditary cancer-predisposing syndrome [RCV000579962]|not provided [RCV001576569]|not specified [RCV005230435] Chr22:28725134 [GRCh38]
Chr22:29121122 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.276del (p.Trp93fs) deletion Familial cancer of breast [RCV000467195]|Hereditary cancer-predisposing syndrome [RCV002436442] Chr22:28734446 [GRCh38]
Chr22:29130434 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.847-10del deletion Familial cancer of breast [RCV000467259] Chr22:28703576 [GRCh38]
Chr22:29099564 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.47G>A (p.Ser16Asn) single nucleotide variant Familial cancer of breast [RCV000470829]|Hereditary cancer-predisposing syndrome [RCV003278816] Chr22:28734675 [GRCh38]
Chr22:29130663 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.338A>G (p.Tyr113Cys) single nucleotide variant Familial cancer of breast [RCV000470930]|Hereditary cancer-predisposing syndrome [RCV000580420] Chr22:28725349 [GRCh38]
Chr22:29121337 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.770C>T (p.Ala257Val) single nucleotide variant Familial cancer of breast [RCV000474645]|Hereditary cancer-predisposing syndrome [RCV003278817]|not provided [RCV003736778] Chr22:28711931 [GRCh38]
Chr22:29107919 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1462-1G>A single nucleotide variant Familial cancer of breast [RCV000474737]|Hereditary cancer-predisposing syndrome [RCV000773145] Chr22:28689216 [GRCh38]
Chr22:29085204 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1152A>T (p.Leu384Phe) single nucleotide variant Familial cancer of breast [RCV000474755]|Hereditary cancer-predisposing syndrome [RCV001010001] Chr22:28695817 [GRCh38]
Chr22:29091805 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.344T>C (p.Phe115Ser) single nucleotide variant Familial cancer of breast [RCV000474804]|Hereditary cancer-predisposing syndrome [RCV000584064] Chr22:28725343 [GRCh38]
Chr22:29121331 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-7+17dup duplication not specified [RCV000480082] Chr22:28741751..28741752 [GRCh38]
Chr22:29137739..29137740 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.265_270del (p.Thr89_Pro90del) deletion Familial cancer of breast [RCV002525757]|not provided [RCV000480094] Chr22:28734452..28734457 [GRCh38]
Chr22:29130440..29130445 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.856A>G (p.Ile286Val) single nucleotide variant Familial cancer of breast [RCV000635648]|Hereditary cancer-predisposing syndrome [RCV000563586]|not provided [RCV000480115] Chr22:28703557 [GRCh38]
Chr22:29099545 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1252T>C (p.Phe418Leu) single nucleotide variant Familial cancer of breast [RCV001231948]|Hereditary cancer-predisposing syndrome [RCV000564409]|not provided [RCV000480218] Chr22:28695717 [GRCh38]
Chr22:29091705 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.374T>G (p.Phe125Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002350066]|not provided [RCV000484314] Chr22:28725313 [GRCh38]
Chr22:29121301 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.31dup (p.Gln11fs) duplication Familial cancer of breast [RCV000456188]|Hereditary breast ovarian cancer syndrome [RCV002222517]|Hereditary cancer-predisposing syndrome [RCV001188944]|not provided [RCV000759773] Chr22:28734690..28734691 [GRCh38]
Chr22:29130678..29130679 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1376-1G>C single nucleotide variant Familial cancer of breast [RCV000456304]|Hereditary cancer-predisposing syndrome [RCV000572752] Chr22:28694118 [GRCh38]
Chr22:29090106 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.8G>T (p.Arg3Leu) single nucleotide variant CHEK2-related cancer predisposition [RCV004720258]|Familial cancer of breast [RCV000459842]|Hereditary cancer-predisposing syndrome [RCV000573624]|Malignant tumor of breast [RCV001355873]|not provided [RCV003441879]|not specified [RCV001821280] Chr22:28734714 [GRCh38]
Chr22:29130702 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1383C>G (p.Asp461Glu) single nucleotide variant CHEK2-related cancer predisposition [RCV005027525]|Familial cancer of breast [RCV000467590]|Hereditary cancer-predisposing syndrome [RCV000569776]|Malignant tumor of breast [RCV001358131]|not provided [RCV000588837]|not specified [RCV003320467] Chr22:28694110 [GRCh38]
Chr22:29090098 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.823del (p.Glu275fs) deletion Familial cancer of breast [RCV000474863]|Hereditary cancer-predisposing syndrome [RCV001027311]|not provided [RCV003320468] Chr22:28710029 [GRCh38]
Chr22:29106017 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs) insertion Familial cancer of breast [RCV003335363]|Hereditary cancer-predisposing syndrome [RCV002455926]|not provided [RCV000482812] Chr22:28695826..28695827 [GRCh38]
Chr22:29091814..29091815 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1115C>G (p.Ser372Cys) single nucleotide variant Familial cancer of breast [RCV001856811]|Hereditary cancer-predisposing syndrome [RCV002436526]|Inherited breast cancer and ovarian cancer [RCV005416034]|not provided [RCV000484546] Chr22:28695854 [GRCh38]
Chr22:29091842 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1285G>A (p.Glu429Lys) single nucleotide variant Familial cancer of breast [RCV001346368]|Hereditary cancer-predisposing syndrome [RCV000564784]|not provided [RCV000484630] Chr22:28695217 [GRCh38]
Chr22:29091205 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.476A>G (p.Tyr159Cys) single nucleotide variant Familial cancer of breast [RCV000460064]|Hereditary cancer-predisposing syndrome [RCV000580089]|not provided [RCV000985702] Chr22:28725093 [GRCh38]
Chr22:29121081 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.972C>G (p.Cys324Trp) single nucleotide variant Familial cancer of breast [RCV000463864]|Hereditary cancer-predisposing syndrome [RCV001190632] Chr22:28699874 [GRCh38]
Chr22:29095862 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1183G>A (p.Val395Ile) single nucleotide variant CHEK2-related disorder [RCV004533193]|Familial cancer of breast [RCV000467802]|Hereditary cancer-predisposing syndrome [RCV001010081] Chr22:28695786 [GRCh38]
Chr22:29091774 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.736G>C (p.Val246Leu) single nucleotide variant Familial cancer of breast [RCV000471471]|Hereditary cancer-predisposing syndrome [RCV001026337] Chr22:28711965 [GRCh38]
Chr22:29107953 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) single nucleotide variant Familial cancer of breast [RCV000475251]|Hereditary breast ovarian cancer syndrome [RCV003483626]|Hereditary cancer-predisposing syndrome [RCV000566309]|Hereditary nonpolyposis colon cancer [RCV005355845]|not provided [RCV001528284]|not specified [RCV003114586] Chr22:28695800 [GRCh38]
Chr22:29091788 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.319+7C>G single nucleotide variant Familial cancer of breast [RCV000473854] Chr22:28734396 [GRCh38]
Chr22:29130384 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.444+2T>C single nucleotide variant Familial cancer of breast [RCV000543761]|Familial cancer of breast [RCV000763474]|Hereditary cancer-predisposing syndrome [RCV000562639]|not provided [RCV000483398] Chr22:28725241 [GRCh38]
Chr22:29121229 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1233G>C (p.Trp411Cys) single nucleotide variant Familial cancer of breast [RCV001048415]|not provided [RCV000480625] Chr22:28695736 [GRCh38]
Chr22:29091724 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+12_846+16del deletion not specified [RCV000480644] Chr22:28709990..28709994 [GRCh38]
Chr22:29105978..29105982 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.38A>G (p.His13Arg) single nucleotide variant Familial cancer of breast [RCV000547774]|Hereditary cancer-predisposing syndrome [RCV000775780]|not provided [RCV000480755] Chr22:28734684 [GRCh38]
Chr22:29130672 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter) single nucleotide variant Familial cancer of breast [RCV000460369]|Hereditary cancer-predisposing syndrome [RCV004609388] Chr22:28711922 [GRCh38]
Chr22:29107910 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28703505)_(28703566_?)del deletion Familial cancer of breast [RCV000464194] Chr22:28703505..28703566 [GRCh38]
Chr22:29099493..29099554 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1096-1G>A single nucleotide variant Familial cancer of breast [RCV000464247]|Hereditary cancer-predisposing syndrome [RCV000565790]|not provided [RCV001782952] Chr22:28695874 [GRCh38]
Chr22:29091862 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1428G>A (p.Thr476=) single nucleotide variant Familial cancer of breast [RCV000464282]|Hereditary cancer-predisposing syndrome [RCV000573023] Chr22:28694065 [GRCh38]
Chr22:29090053 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs) duplication Familial cancer of breast [RCV000464286]|Hereditary cancer-predisposing syndrome [RCV003584611]|not provided [RCV004696916] Chr22:28695804..28695805 [GRCh38]
Chr22:29091792..29091793 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1542G>C (p.Gln514His) single nucleotide variant Familial cancer of breast [RCV000467998]|Hereditary cancer-predisposing syndrome [RCV000569146]|not provided [RCV003477981] Chr22:28689135 [GRCh38]
Chr22:29085123 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1261C>T (p.Leu421Phe) single nucleotide variant Familial cancer of breast [RCV000468070]|Hereditary cancer-predisposing syndrome [RCV000575686] Chr22:28695241 [GRCh38]
Chr22:29091229 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu) single nucleotide variant CHEK2-related cancer predisposition [RCV003493582]|Familial cancer of breast [RCV000471619]|Hereditary cancer-predisposing syndrome [RCV001011473]|not provided [RCV003328584] Chr22:28694081 [GRCh38]
Chr22:29090069 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.683+9T>C single nucleotide variant Familial cancer of breast [RCV000471802]|Hereditary cancer-predisposing syndrome [RCV000583421]|not provided [RCV001613311]|not specified [RCV000781306] Chr22:28719386 [GRCh38]
Chr22:29115374 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1418C>T (p.Ala473Val) single nucleotide variant Familial cancer of breast [RCV000475471]|Hereditary cancer-predisposing syndrome [RCV004609386] Chr22:28694075 [GRCh38]
Chr22:29090063 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1302G>A (p.Val434=) single nucleotide variant Familial cancer of breast [RCV001504465]|Hereditary cancer-predisposing syndrome [RCV002383890]|not specified [RCV000486859] Chr22:28695200 [GRCh38]
Chr22:29091188 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) single nucleotide variant Breast and/or ovarian cancer [RCV003150220]|Familial cancer of breast [RCV000461191]|Hereditary breast ovarian cancer syndrome [RCV003483625]|Hereditary cancer-predisposing syndrome [RCV001022201]|Hereditary nonpolyposis colon cancer [RCV005355843]|not provided [RCV000590326]|not specified [RCV002468941] Chr22:28725260 [GRCh38]
Chr22:29121248 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1374A>G (p.Lys458=) single nucleotide variant Familial cancer of breast [RCV000543380]|Hereditary cancer-predisposing syndrome [RCV000560968]|not provided [RCV000480813] Chr22:28695128 [GRCh38]
Chr22:29091116 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1260-4T>G single nucleotide variant Familial cancer of breast [RCV003766664]|not provided [RCV000485039] Chr22:28695246 [GRCh38]
Chr22:29091234 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) single nucleotide variant CHEK2-related cancer predisposition [RCV005027547]|Familial cancer of breast [RCV000556152]|Hereditary cancer-predisposing syndrome [RCV000562793]|Li-Fraumeni syndrome 1 [RCV001174504]|not provided [RCV000485124]|not specified [RCV004689756] Chr22:28689195 [GRCh38]
Chr22:29085183 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_007194.4(CHEK2):c.1262T>A (p.Leu421His) single nucleotide variant Familial cancer of breast [RCV000456925]|Hereditary cancer-predisposing syndrome [RCV000575067]|not provided [RCV001753896] Chr22:28695240 [GRCh38]
Chr22:29091228 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1211A>G (p.Tyr404Cys) single nucleotide variant Familial cancer of breast [RCV000460515]|Hereditary cancer-predisposing syndrome [RCV001186457] Chr22:28695758 [GRCh38]
Chr22:29091746 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-6C>T single nucleotide variant Familial cancer of breast [RCV000464376]|Hereditary cancer-predisposing syndrome [RCV003584621]|not specified [RCV000602809] Chr22:28712023 [GRCh38]
Chr22:29108011 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.444+6T>C single nucleotide variant Familial cancer of breast [RCV000462929]|Hereditary cancer-predisposing syndrome [RCV003584612]|not provided [RCV000482912]|not specified [RCV001174668] Chr22:28725237 [GRCh38]
Chr22:29121225 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.164C>T (p.Ser55Phe) single nucleotide variant CHEK2-related cancer predisposition [RCV005027526]|Familial cancer of breast [RCV000466798]|Hereditary cancer-predisposing syndrome [RCV000574842]|Predisposition to cancer [RCV003325201]|not provided [RCV000759772]|not specified [RCV001821281] Chr22:28734558 [GRCh38]
Chr22:29130546 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1022A>C (p.Asn341Thr) single nucleotide variant Familial cancer of breast [RCV000467334]|Hereditary cancer-predisposing syndrome [RCV000575429]|not provided [RCV000480457]|not specified [RCV004596197] Chr22:28696974 [GRCh38]
Chr22:29092962 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.444+1del deletion Familial cancer of breast [RCV001064455]|Hereditary cancer-predisposing syndrome [RCV001188327]|not provided [RCV000484271] Chr22:28725242 [GRCh38]
Chr22:29121230 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.-7+4_-7+13del deletion not provided [RCV000481106] Chr22:28741756..28741765 [GRCh38]
Chr22:29137744..29137753 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-6-12T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001176774]|not provided [RCV000481320] Chr22:28734739 [GRCh38]
Chr22:29130727 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.973A>G (p.Lys325Glu) single nucleotide variant CHEK2-related cancer predisposition [RCV005027546]|Familial cancer of breast [RCV000528645]|Hereditary cancer-predisposing syndrome [RCV000574986]|not provided [RCV000512871] Chr22:28699873 [GRCh38]
Chr22:29095861 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.967A>C (p.Thr323Pro) single nucleotide variant Familial cancer of breast [RCV000663289]|Familial cancer of breast [RCV000765618]|Hereditary cancer-predisposing syndrome [RCV000569568]|not provided [RCV000485499] Chr22:28699879 [GRCh38]
Chr22:29095867 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.604T>C (p.Phe202Leu) single nucleotide variant Familial cancer of breast [RCV000457117]|Hereditary cancer-predisposing syndrome [RCV000572134] Chr22:28719474 [GRCh38]
Chr22:29115462 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr) single nucleotide variant Familial cancer of breast [RCV000475949]|Hereditary cancer-predisposing syndrome [RCV002257724] Chr22:28719435 [GRCh38]
Chr22:29115423 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1081G>C (p.Asp361His) single nucleotide variant CHEK2-related cancer predisposition [RCV005027524]|Familial cancer of breast [RCV000469327]|Hereditary cancer-predisposing syndrome [RCV000579404]|not provided [RCV000481362] Chr22:28696915 [GRCh38]
Chr22:29092903 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1612G>A (p.Val538Met) single nucleotide variant Familial cancer of breast [RCV001851201]|Hereditary cancer-predisposing syndrome [RCV002402403]|not provided [RCV000485826] Chr22:28687917 [GRCh38]
Chr22:29083905 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.69C>T (p.Gly23=) single nucleotide variant Familial cancer of breast [RCV000457392] Chr22:28734653 [GRCh38]
Chr22:29130641 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.1317G>C (p.Gln439His) single nucleotide variant Familial cancer of breast [RCV000457423]|Hereditary cancer-predisposing syndrome [RCV000570489] Chr22:28695185 [GRCh38]
Chr22:29091173 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1019A>G (p.Glu340Gly) single nucleotide variant Familial cancer of breast [RCV000457476]|Hereditary cancer-predisposing syndrome [RCV004022743] Chr22:28696977 [GRCh38]
Chr22:29092965 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461G>A (p.Gln487=) single nucleotide variant Familial cancer of breast [RCV000461120]|Hereditary cancer-predisposing syndrome [RCV002393135]|not specified [RCV004596196] Chr22:28694032 [GRCh38]
Chr22:29090020 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.940G>T (p.Val314Leu) single nucleotide variant Familial cancer of breast [RCV000476147]|Hereditary cancer-predisposing syndrome [RCV000775770] Chr22:28699906 [GRCh38]
Chr22:29095894 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1420C>G (p.Arg474Gly) single nucleotide variant Familial cancer of breast [RCV000476206]|Hereditary cancer-predisposing syndrome [RCV002393136] Chr22:28694073 [GRCh38]
Chr22:29090061 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.673dup (p.Thr225fs) duplication Familial cancer of breast [RCV000476282]|Hereditary cancer-predisposing syndrome [RCV002365646] Chr22:28719404..28719405 [GRCh38]
Chr22:29115392..29115393 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.329A>G (p.Asn110Ser) single nucleotide variant CHEK2-related disorder [RCV004737534]|Familial cancer of breast [RCV000476300]|Hereditary cancer-predisposing syndrome [RCV002323731] Chr22:28725358 [GRCh38]
Chr22:29121346 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1063C>G (p.Leu355Val) single nucleotide variant Familial cancer of breast [RCV000476333] Chr22:28696933 [GRCh38]
Chr22:29092921 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.886G>C (p.Asp296His) single nucleotide variant Familial cancer of breast [RCV001851253]|Hereditary cancer-predisposing syndrome [RCV004023192]|not provided [RCV000481807] Chr22:28703527 [GRCh38]
Chr22:29099515 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+6T>C single nucleotide variant Familial cancer of breast [RCV001036268]|Hereditary cancer-predisposing syndrome [RCV000775792]|not provided [RCV000485929] Chr22:28694026 [GRCh38]
Chr22:29090014 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.783_784del (p.Glu263fs) deletion Familial cancer of breast [RCV000457707] Chr22:28711917..28711918 [GRCh38]
Chr22:29107905..29107906 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro) single nucleotide variant CHEK2-related cancer predisposition [RCV004595507]|Familial cancer of breast [RCV000465132]|Hereditary cancer-predisposing syndrome [RCV000568008]|not provided [RCV001555558] Chr22:28712013 [GRCh38]
Chr22:29108001 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.243G>A (p.Glu81=) single nucleotide variant Familial cancer of breast [RCV001446938]|Hereditary cancer-predisposing syndrome [RCV000775748] Chr22:28734479 [GRCh38]
Chr22:29130467 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1461+5G>A single nucleotide variant CHEK2-related cancer predisposition [RCV003444238]|Familial cancer of breast [RCV000468962]|Hereditary cancer-predisposing syndrome [RCV000561946] Chr22:28694027 [GRCh38]
Chr22:29090015 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.659A>G (p.Tyr220Cys) single nucleotide variant Familial cancer of breast [RCV000476422]|Hereditary cancer-predisposing syndrome [RCV004609387]|Hereditary nonpolyposis colon cancer [RCV005355844]|not provided [RCV003105915] Chr22:28719419 [GRCh38]
Chr22:29115407 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs) duplication Familial cancer of breast [RCV001851132]|Hereditary cancer-predisposing syndrome [RCV000565389]|not provided [RCV000478022] Chr22:28695852..28695853 [GRCh38]
Chr22:29091840..29091841 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.936dup (p.Val313fs) duplication Hereditary cancer-predisposing syndrome [RCV005318406]|not provided [RCV000478216] Chr22:28699909..28699910 [GRCh38]
Chr22:29095897..29095898 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1291A>G (p.Arg431Gly) single nucleotide variant Familial cancer of breast [RCV000528303]|Hereditary cancer-predisposing syndrome [RCV002383909]|not provided [RCV000486280] Chr22:28695211 [GRCh38]
Chr22:29091199 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1244T>A (p.Val415Asp) single nucleotide variant Familial cancer of breast [RCV000690699]|Hereditary cancer-predisposing syndrome [RCV001010526]|not provided [RCV000486281] Chr22:28695725 [GRCh38]
Chr22:29091713 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.631G>T (p.Val211Phe) single nucleotide variant Familial cancer of breast [RCV000461608]|Hereditary cancer-predisposing syndrome [RCV002356686] Chr22:28719447 [GRCh38]
Chr22:29115435 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1259+1G>T single nucleotide variant Familial cancer of breast [RCV000465281] Chr22:28695709 [GRCh38]
Chr22:29091697 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs) microsatellite Familial cancer of breast [RCV000469025]|Hereditary cancer-predisposing syndrome [RCV000566120]|not provided [RCV000507955] Chr22:28695829..28695830 [GRCh38]
Chr22:29091817..29091818 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29099493)_(29099554_?)dup duplication Familial cancer of breast [RCV000469066] Chr22:28703505..28703566 [GRCh38]
Chr22:29099493..29099554 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1542+3A>G single nucleotide variant Familial cancer of breast [RCV000472776]|Hereditary cancer-predisposing syndrome [RCV000568643]|not provided [RCV000587215] Chr22:28689132 [GRCh38]
Chr22:29085120 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NC_000022.11:g.(?_28687743)_(28725367_?)del deletion Familial cancer of breast [RCV000476678] Chr22:28687743..28725367 [GRCh38]
Chr22:29083731..29121355 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.645A>G (p.Ala215=) single nucleotide variant Familial cancer of breast [RCV001481778]|Hereditary cancer-predisposing syndrome [RCV000777675] Chr22:28719433 [GRCh38]
Chr22:29115421 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NC_000022.11:g.(?_28724977)_(28725367_?)del deletion Familial cancer of breast [RCV000476770] Chr22:28724977..28725367 [GRCh38]
Chr22:29120965..29121355 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs) deletion Familial cancer of breast [RCV003335349]|not provided [RCV000485854] Chr22:28696904..28696907 [GRCh38]
Chr22:29092892..29092895 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.908+5G>C single nucleotide variant Familial cancer of breast [RCV001343088]|not provided [RCV000485985] Chr22:28703500 [GRCh38]
Chr22:29099488 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1461+5G>T single nucleotide variant Familial cancer of breast [RCV000802634]|Hereditary breast ovarian cancer syndrome [RCV004802050]|Hereditary cancer-predisposing syndrome [RCV002395146]|not provided [RCV000482348] Chr22:28694027 [GRCh38]
Chr22:29090015 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.343T>A (p.Phe115Ile) single nucleotide variant Familial cancer of breast [RCV000458096]|Hereditary cancer-predisposing syndrome [RCV001020315] Chr22:28725344 [GRCh38]
Chr22:29121332 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1260C>G (p.Cys420Trp) single nucleotide variant Familial cancer of breast [RCV000465698] Chr22:28695242 [GRCh38]
Chr22:29091230 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1033C>G (p.His345Asp) single nucleotide variant Familial cancer of breast [RCV005090946]|Hereditary cancer-predisposing syndrome [RCV002395161]|not provided [RCV000482675] Chr22:28696963 [GRCh38]
Chr22:29092951 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.445-4T>C single nucleotide variant Familial cancer of breast [RCV001088821]|Hereditary cancer-predisposing syndrome [RCV002329155]|not provided [RCV000487020] Chr22:28725128 [GRCh38]
Chr22:29121116 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.995T>C (p.Leu332Pro) single nucleotide variant Familial cancer of breast [RCV002526782]|Hereditary cancer-predisposing syndrome [RCV000568415] Chr22:28699851 [GRCh38]
Chr22:29095839 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.275C>T (p.Pro92Leu) single nucleotide variant Familial cancer of breast [RCV000469556]|Hereditary cancer-predisposing syndrome [RCV000572603]|Malignant tumor of breast [RCV001358000] Chr22:28734447 [GRCh38]
Chr22:29130435 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.282del (p.Arg95fs) deletion Familial cancer of breast [RCV001041221]|Hereditary cancer-predisposing syndrome [RCV000568231]|not provided [RCV000486640] Chr22:28734440 [GRCh38]
Chr22:29130428 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.793G>C (p.Asp265His) single nucleotide variant Familial cancer of breast [RCV001349306]|Hereditary cancer-predisposing syndrome [RCV000572689]|not provided [RCV000478285] Chr22:28710059 [GRCh38]
Chr22:29106047 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1415A>G (p.Lys472Arg) single nucleotide variant Familial cancer of breast [RCV000537431]|Hereditary cancer-predisposing syndrome [RCV000708695]|not provided [RCV000478318] Chr22:28694078 [GRCh38]
Chr22:29090066 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.740C>A (p.Ala247Asp) single nucleotide variant Familial cancer of breast [RCV000535903]|Hereditary cancer-predisposing syndrome [RCV001026399]|not provided [RCV000478513] Chr22:28711961 [GRCh38]
Chr22:29107949 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.505T>C (p.Phe169Leu) single nucleotide variant Familial cancer of breast [RCV003766655]|Hereditary cancer-predisposing syndrome [RCV003380585]|not provided [RCV000487064] Chr22:28725064 [GRCh38]
Chr22:29121052 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.706C>G (p.Leu236Val) single nucleotide variant Familial cancer of breast [RCV000458482]|Hereditary cancer-predisposing syndrome [RCV001025997] Chr22:28711995 [GRCh38]
Chr22:29107983 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1008+8A>G single nucleotide variant Familial cancer of breast [RCV001087812]|Hereditary cancer-predisposing syndrome [RCV000584710]|not provided [RCV000588387]|not specified [RCV000600589] Chr22:28699830 [GRCh38]
Chr22:29095818 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1056T>G (p.Asn352Lys) single nucleotide variant Familial cancer of breast [RCV000458569]|Hereditary cancer-predisposing syndrome [RCV002402279] Chr22:28696940 [GRCh38]
Chr22:29092928 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.280G>A (p.Ala94Thr) single nucleotide variant Familial cancer of breast [RCV000462270]|Hereditary cancer-predisposing syndrome [RCV000562512] Chr22:28734442 [GRCh38]
Chr22:29130430 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.555C>T (p.Asn185=) single nucleotide variant Familial cancer of breast [RCV001403686] Chr22:28725014 [GRCh38]
Chr22:29121002 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1461+10G>A single nucleotide variant Familial cancer of breast [RCV000469807] Chr22:28694022 [GRCh38]
Chr22:29090010 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.(?_28699838)_(28703566_?)del deletion Familial cancer of breast [RCV000469867] Chr22:28699838..28703566 [GRCh38]
Chr22:29095826..29099554 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=) single nucleotide variant Familial cancer of breast [RCV000469899]|Hereditary cancer-predisposing syndrome [RCV000581834]|not provided [RCV000997889] Chr22:28689174 [GRCh38]
Chr22:29085162 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.-8C>T single nucleotide variant not provided [RCV000478681] Chr22:28741770 [GRCh38]
Chr22:29137758 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.8G>A (p.Arg3Gln) single nucleotide variant Familial cancer of breast [RCV000529273]|Hereditary cancer-predisposing syndrome [RCV000579685]|not provided [RCV000483004]|not specified [RCV004596223] Chr22:28734714 [GRCh38]
Chr22:29130702 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1376-13A>G single nucleotide variant Familial cancer of breast [RCV000764371]|Familial cancer of breast [RCV001865432]|Hereditary cancer-predisposing syndrome [RCV000775796]|not provided [RCV000487384] Chr22:28694130 [GRCh38]
Chr22:29090118 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.683+10T>C single nucleotide variant Familial cancer of breast [RCV000458706]|Hereditary cancer-predisposing syndrome [RCV000580978] Chr22:28719385 [GRCh38]
Chr22:29115373 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.72C>T (p.Ser24=) single nucleotide variant Familial cancer of breast [RCV000458849]|Hereditary cancer-predisposing syndrome [RCV000777680]|Hereditary nonpolyposis colon cancer [RCV005355902]|not specified [RCV004586724] Chr22:28734650 [GRCh38]
Chr22:29130638 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.151C>A (p.Gln51Lys) single nucleotide variant Familial cancer of breast [RCV000462478] Chr22:28734571 [GRCh38]
Chr22:29130559 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.80A>C (p.Gln27Pro) single nucleotide variant Breast and/or ovarian cancer [RCV003150221]|Familial cancer of breast [RCV000470117]|Hereditary cancer-predisposing syndrome [RCV000584612] Chr22:28734642 [GRCh38]
Chr22:29130630 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.986A>C (p.Tyr329Ser) single nucleotide variant Familial cancer of breast [RCV000473849] Chr22:28699860 [GRCh38]
Chr22:29095848 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter) single nucleotide variant Familial cancer of breast [RCV001066993]|Hereditary cancer-predisposing syndrome [RCV001016911]|not provided [RCV000480175] Chr22:28734694 [GRCh38]
Chr22:29130682 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.845_846+36dup duplication not provided [RCV001704611] Chr22:28709969..28709970 [GRCh38]
Chr22:29105957..29105958 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1610C>T (p.Ala537Val) single nucleotide variant Familial cancer of breast [RCV002525912]|Hereditary cancer-predisposing syndrome [RCV001012412]|not provided [RCV000478951] Chr22:28687919 [GRCh38]
Chr22:29083907 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+3_592+4del deletion not provided [RCV000478991] Chr22:28724973..28724974 [GRCh38]
Chr22:29120961..29120962 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3 copy number gain See cases [RCV000510523] Chr22:28349854..33013062 [GRCh37]
Chr22:22q12.1-12.3		 likely pathogenic
NM_007194.4(CHEK2):c.225T>G (p.Pro75=) single nucleotide variant Familial cancer of breast [RCV001488981]|Hereditary cancer-predisposing syndrome [RCV000776711]|not specified [RCV000503958] Chr22:28734497 [GRCh38]
Chr22:29130485 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.79C>G (p.Gln27Glu) single nucleotide variant CHEK2-related cancer predisposition [RCV005414503]|Familial cancer of breast [RCV002524944]|Hereditary cancer [RCV000509464]|Hereditary cancer-predisposing syndrome [RCV002420290]|not provided [RCV000522986] Chr22:28734643 [GRCh38]
Chr22:29130631 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
GRCh37/hg19 22q12.1(chr22:29105415-29115517)x1 copy number loss See cases [RCV000510238] Chr22:29105415..29115517 [GRCh37]
Chr22:22q12.1		 likely pathogenic
GRCh37/hg19 22q12.1(chr22:29079237-29115517)x3 copy number gain See cases [RCV000511407] Chr22:29079237..29115517 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.762dup (p.Lys255fs) duplication Hereditary cancer-predisposing syndrome [RCV000492222] Chr22:28711938..28711939 [GRCh38]
Chr22:29107926..29107927 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1009-2A>G single nucleotide variant Familial cancer of breast [RCV000699758]|Hereditary cancer-predisposing syndrome [RCV000492459]|not provided [RCV001543591] Chr22:28696989 [GRCh38]
Chr22:29092977 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1501del (p.Glu501fs) deletion Familial cancer of breast [RCV000635920]|Hereditary cancer-predisposing syndrome [RCV000492481] Chr22:28689176 [GRCh38]
Chr22:29085164 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.846+1G>A single nucleotide variant Familial cancer of breast [RCV000635951]|Hereditary cancer-predisposing syndrome [RCV000492671]|not provided [RCV000522765] Chr22:28710005 [GRCh38]
Chr22:29105993 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1259+8A>G single nucleotide variant Familial cancer of breast [RCV000527244]|Hereditary cancer-predisposing syndrome [RCV000581749]|not provided [RCV001712463]|not specified [RCV000506517] Chr22:28695702 [GRCh38]
Chr22:29091690 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.847-14_847-2delinsGG indel Familial cancer of breast [RCV003335439]|Hereditary cancer-predisposing syndrome [RCV001017856]|not provided [RCV004704034] Chr22:28703568..28703580 [GRCh38]
Chr22:29099556..29099568 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance|no classifications from unflagged records
NM_007194.4(CHEK2):c.284G>C (p.Arg95Pro) single nucleotide variant Colorectal cancer [RCV004771475]|Familial cancer of breast [RCV001068757]|Hereditary cancer-predisposing syndrome [RCV000581294]|not provided [RCV004800436]|not specified [RCV000506957] Chr22:28734438 [GRCh38]
Chr22:29130426 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) single nucleotide variant Breast and/or ovarian cancer [RCV003150248]|CHEK2-related cancer predisposition [RCV004796214]|Familial cancer of breast [RCV000541871]|Familial cancer of breast [RCV000763476]|Hereditary breast ovarian cancer syndrome [RCV001375597]|Hereditary cancer-predisposing syndrome [RCV000572280]|not provided [RCV000507030] Chr22:28725270 [GRCh38]
Chr22:29121258 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.611T>C (p.Leu204Pro) single nucleotide variant Familial cancer of breast [RCV000698041]|Hereditary cancer-predisposing syndrome [RCV001181979] Chr22:28719467 [GRCh38]
Chr22:29115455 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1396T>G (p.Leu466Val) single nucleotide variant Familial cancer of breast [RCV000698276] Chr22:28694097 [GRCh38]
Chr22:29090085 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.401A>T (p.Asp134Val) single nucleotide variant Familial cancer of breast [RCV000698965]|Hereditary cancer-predisposing syndrome [RCV001021673] Chr22:28725286 [GRCh38]
Chr22:29121274 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+7A>G single nucleotide variant Familial cancer of breast [RCV000542610]|Hereditary cancer-predisposing syndrome [RCV001188174] Chr22:28709999 [GRCh38]
Chr22:29105987 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1007A>C (p.Gln336Pro) single nucleotide variant Familial cancer of breast [RCV000689455]|Hereditary cancer-predisposing syndrome [RCV000568852] Chr22:28699839 [GRCh38]
Chr22:29095827 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter) single nucleotide variant Familial cancer of breast [RCV000635927]|Hereditary cancer-predisposing syndrome [RCV000569419] Chr22:28694058 [GRCh38]
Chr22:29090046 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1451del (p.Pro484fs) deletion Familial cancer of breast [RCV000812102]|Hereditary cancer-predisposing syndrome [RCV000572548] Chr22:28694042 [GRCh38]
Chr22:29090030 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28687891)_(28689221_?)del deletion Familial cancer of breast [RCV000555929] Chr22:28687891..28689221 [GRCh38]
Chr22:29083879..29085209 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.46A>C (p.Ser16Arg) single nucleotide variant Familial cancer of breast [RCV001308832]|Hereditary cancer-predisposing syndrome [RCV000575171]|not provided [RCV001560729] Chr22:28734676 [GRCh38]
Chr22:29130664 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) deletion CHEK2-related cancer predisposition [RCV001788289]|Familial cancer of breast [RCV003335488]|Hereditary breast ovarian cancer syndrome [RCV003230542]|Hereditary cancer-predisposing syndrome [RCV000575173]|not provided [RCV003228957] Chr22:28695731 [GRCh38]
Chr22:29091719 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.830T>C (p.Leu277Ser) single nucleotide variant Familial cancer of breast [RCV001338833]|Hereditary cancer-predisposing syndrome [RCV000575262] Chr22:28710022 [GRCh38]
Chr22:29106010 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.412A>G (p.Thr138Ala) single nucleotide variant Familial cancer of breast [RCV000524740]|Hereditary cancer-predisposing syndrome [RCV002330851] Chr22:28725275 [GRCh38]
Chr22:29121263 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.799G>A (p.Ala267Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572948] Chr22:28710053 [GRCh38]
Chr22:29106041 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val) single nucleotide variant Familial cancer of breast [RCV000543198]|Hereditary cancer-predisposing syndrome [RCV000575304] Chr22:28712006 [GRCh38]
Chr22:29107994 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1389C>T (p.Val463=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000575340] Chr22:28694104 [GRCh38]
Chr22:29090092 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1054A>C (p.Asn352His) single nucleotide variant Familial cancer of breast [RCV000822282]|Hereditary cancer-predisposing syndrome [RCV000575358] Chr22:28696942 [GRCh38]
Chr22:29092930 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1475_1477del (p.Lys492del) deletion Hereditary cancer-predisposing syndrome [RCV000575472] Chr22:28689200..28689202 [GRCh38]
Chr22:29085188..29085190 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.583A>G (p.Arg195Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570017] Chr22:28724986 [GRCh38]
Chr22:29120974 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1443A>G (p.Leu481=) single nucleotide variant Familial cancer of breast [RCV005091300]|Hereditary cancer-predisposing syndrome [RCV000572972] Chr22:28694050 [GRCh38]
Chr22:29090038 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter) single nucleotide variant Familial cancer of breast [RCV000525290]|Hereditary cancer-predisposing syndrome [RCV002431573] Chr22:28734475 [GRCh38]
Chr22:29130463 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.818A>C (p.Glu273Ala) single nucleotide variant Familial cancer of breast [RCV001057181]|Hereditary cancer-predisposing syndrome [RCV000573029] Chr22:28710034 [GRCh38]
Chr22:29106022 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.*2C>T single nucleotide variant Familial cancer of breast [RCV005248290]|Hereditary cancer-predisposing syndrome [RCV000575604] Chr22:28687895 [GRCh38]
Chr22:29083883 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_007194.4(CHEK2):c.429C>G (p.His143Gln) single nucleotide variant Familial cancer of breast [RCV003500567]|Hereditary breast ovarian cancer syndrome [RCV003483678]|Hereditary cancer-predisposing syndrome [RCV000566903] Chr22:28725258 [GRCh38]
Chr22:29121246 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.878A>C (p.Asp293Ala) single nucleotide variant Familial cancer of breast [RCV001867889]|Hereditary cancer-predisposing syndrome [RCV000570308]|not provided [RCV001284623] Chr22:28703535 [GRCh38]
Chr22:29099523 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.715G>C (p.Glu239Gln) single nucleotide variant Familial cancer of breast [RCV001217899]|Hereditary cancer-predisposing syndrome [RCV000573178] Chr22:28711986 [GRCh38]
Chr22:29107974 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.990G>T (p.Gln330His) single nucleotide variant Familial cancer of breast [RCV003607320]|Hereditary cancer-predisposing syndrome [RCV000573188] Chr22:28699856 [GRCh38]
Chr22:29095844 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.445-5T>G single nucleotide variant Familial cancer of breast [RCV001339076]|Hereditary cancer-predisposing syndrome [RCV000575754] Chr22:28725129 [GRCh38]
Chr22:29121117 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1008+2T>G single nucleotide variant CHEK2-related cancer predisposition [RCV005027662]|Familial cancer of breast [RCV000709597]|Hereditary cancer-predisposing syndrome [RCV000575839] Chr22:28699836 [GRCh38]
Chr22:29095824 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.909-2A>G single nucleotide variant Bone osteosarcoma [RCV004732484]|Familial cancer of breast [RCV000576712]|Hereditary cancer-predisposing syndrome [RCV000584150]|not provided [RCV003886415] Chr22:28699939 [GRCh38]
Chr22:29095927 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.857T>C (p.Ile286Thr) single nucleotide variant Familial cancer of breast [RCV001049982]|Hereditary cancer-predisposing syndrome [RCV000579601]|not provided [RCV002289851] Chr22:28703556 [GRCh38]
Chr22:29099544 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.765G>T (p.Lys255Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570646]|not provided [RCV001354759] Chr22:28711936 [GRCh38]
Chr22:29107924 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.129C>A (p.Thr43=) single nucleotide variant Familial cancer of breast [RCV000529108]|Hereditary cancer-predisposing syndrome [RCV001010838] Chr22:28734593 [GRCh38]
Chr22:29130581 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+1G>A single nucleotide variant Breast cancer, susceptibility to [RCV001258068]|CHEK2-related cancer predisposition [RCV005398885]|CHEK2-related disorder [RCV004737837]|Familial cancer of breast [RCV000635773]|Hereditary cancer-predisposing syndrome [RCV000573370] Chr22:28734402 [GRCh38]
Chr22:29130390 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1547del (p.Ser516fs) deletion Familial cancer of breast [RCV000529636]|Hereditary cancer-predisposing syndrome [RCV001012055] Chr22:28687982 [GRCh38]
Chr22:29083970 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.413C>T (p.Thr138Ile) single nucleotide variant Familial cancer of breast [RCV001859987]|Hereditary cancer-predisposing syndrome [RCV000576067] Chr22:28725274 [GRCh38]
Chr22:29121262 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.693_694insCTCC (p.Gly232fs) insertion Hereditary cancer-predisposing syndrome [RCV000576069] Chr22:28712007..28712008 [GRCh38]
Chr22:29107995..29107996 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.-3G>A single nucleotide variant CHEK2-related cancer predisposition [RCV005357639]|Hereditary cancer-predisposing syndrome [RCV000576083] Chr22:28734724 [GRCh38]
Chr22:29130712 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592G>C (p.Val198Leu) single nucleotide variant CHEK2-related disorder [RCV004530602]|Familial cancer of breast [RCV000686285]|Hereditary cancer-predisposing syndrome [RCV000576138] Chr22:28724977 [GRCh38]
Chr22:29120965 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1025G>T (p.Gly342Val) single nucleotide variant Familial cancer of breast [RCV001348839]|Hereditary cancer-predisposing syndrome [RCV000579659] Chr22:28696971 [GRCh38]
Chr22:29092959 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1210T>A (p.Tyr404Asn) single nucleotide variant Familial cancer of breast [RCV001240845]|Hereditary cancer-predisposing syndrome [RCV000579833] Chr22:28695759 [GRCh38]
Chr22:29091747 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.150C>T (p.Ser50=) single nucleotide variant Familial cancer of breast [RCV001062346]|Hereditary cancer-predisposing syndrome [RCV000570717]|not provided [RCV000842677] Chr22:28734572 [GRCh38]
Chr22:29130560 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.433del (p.Arg145fs) deletion Familial cancer of breast [RCV000530353] Chr22:28725254 [GRCh38]
Chr22:29121242 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.26C>G (p.Ala9Gly) single nucleotide variant Familial cancer of breast [RCV000530682]|Hereditary cancer-predisposing syndrome [RCV000777274] Chr22:28734696 [GRCh38]
Chr22:29130684 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.275C>A (p.Pro92His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000573515]|not provided [RCV004767389] Chr22:28734447 [GRCh38]
Chr22:29130435 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.444+10_444+13del deletion Familial cancer of breast [RCV000531296] Chr22:28725230..28725233 [GRCh38]
Chr22:29121218..29121221 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.436A>C (p.Ile146Leu) single nucleotide variant Familial cancer of breast [RCV000635731]|Familial cancer of breast [RCV000765624]|Hereditary cancer-predisposing syndrome [RCV000570860]|not provided [RCV001800767] Chr22:28725251 [GRCh38]
Chr22:29121239 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319+1G>C single nucleotide variant Familial cancer of breast [RCV000532543] Chr22:28734402 [GRCh38]
Chr22:29130390 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.870del (p.Phe292fs) deletion Familial cancer of breast [RCV000532620]|Hereditary cancer-predisposing syndrome [RCV001805158] Chr22:28703543 [GRCh38]
Chr22:29099531 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.655G>A (p.Glu219Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293690] Chr22:28719423 [GRCh38]
Chr22:29115411 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.508G>C (p.Val170Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293697] Chr22:28725061 [GRCh38]
Chr22:29121049 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1086T>G (p.Cys362Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571096] Chr22:28696910 [GRCh38]
Chr22:29092898 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1416G>A (p.Lys472=) single nucleotide variant Familial cancer of breast [RCV005248217]|Hereditary cancer-predisposing syndrome [RCV000573976] Chr22:28694077 [GRCh38]
Chr22:29090065 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.699G>C (p.Glu233Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000571514] Chr22:28712002 [GRCh38]
Chr22:29107990 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.878A>T (p.Asp293Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000574029] Chr22:28703535 [GRCh38]
Chr22:29099523 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.792+4A>G single nucleotide variant Familial cancer of breast [RCV000536851] Chr22:28711905 [GRCh38]
Chr22:29107893 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1323del (p.Ser442fs) deletion Familial cancer of breast [RCV003335489]|Hereditary cancer-predisposing syndrome [RCV000571640] Chr22:28695179 [GRCh38]
Chr22:29091167 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1222G>A (p.Val408Met) single nucleotide variant Familial cancer of breast [RCV002528128]|Hereditary cancer-predisposing syndrome [RCV000571704] Chr22:28695747 [GRCh38]
Chr22:29091735 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.277T>A (p.Trp93Arg) single nucleotide variant Familial cancer of breast [RCV000538696] Chr22:28734445 [GRCh38]
Chr22:29130433 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.46_72del (p.Ser16_Ser24del) deletion Familial cancer of breast [RCV000635624] Chr22:28734650..28734676 [GRCh38]
Chr22:29130638..29130664 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.979dup (p.Tyr327fs) duplication Familial cancer of breast [RCV000635634]|Hereditary cancer-predisposing syndrome [RCV004948497] Chr22:28699866..28699867 [GRCh38]
Chr22:29095854..29095855 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.846+1G>T single nucleotide variant CHEK2-related cancer predisposition [RCV005401542]|Familial cancer of breast [RCV000635635]|Hereditary cancer-predisposing syndrome [RCV002448967] Chr22:28710005 [GRCh38]
Chr22:29105993 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.745A>C (p.Lys249Gln) single nucleotide variant Familial cancer of breast [RCV000635654] Chr22:28711956 [GRCh38]
Chr22:29107944 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs) deletion Familial cancer of breast [RCV000635662] Chr22:28694049..28694050 [GRCh38]
Chr22:29090037..29090038 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1009-5T>A single nucleotide variant Familial cancer of breast [RCV000635667] Chr22:28696992 [GRCh38]
Chr22:29092980 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1352T>A (p.Val451Asp) single nucleotide variant Familial cancer of breast [RCV000635671]|Hereditary cancer-predisposing syndrome [RCV001526237] Chr22:28695150 [GRCh38]
Chr22:29091138 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1544del (p.Pro515fs) deletion Familial cancer of breast [RCV000635711] Chr22:28687985 [GRCh38]
Chr22:29083973 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1016A>T (p.His339Leu) single nucleotide variant CHEK2-related cancer predisposition [RCV005357837]|Familial cancer of breast [RCV000635717] Chr22:28696980 [GRCh38]
Chr22:29092968 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.60G>T (p.Gln20His) single nucleotide variant Familial cancer of breast [RCV000635741]|Hereditary cancer-predisposing syndrome [RCV001024901] Chr22:28734662 [GRCh38]
Chr22:29130650 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.545C>A (p.Pro182His) single nucleotide variant Familial cancer of breast [RCV000635752] Chr22:28725024 [GRCh38]
Chr22:29121012 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1009-3del deletion Familial cancer of breast [RCV000635791] Chr22:28696990 [GRCh38]
Chr22:29092978 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.953G>C (p.Arg318Pro) single nucleotide variant Familial cancer of breast [RCV000635808]|Hereditary cancer-predisposing syndrome [RCV002377378] Chr22:28699893 [GRCh38]
Chr22:29095881 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083879)_(29130715_?)dup duplication Familial cancer of breast [RCV000559544] Chr22:29083879..29130715 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.176C>T (p.Thr59Ile) single nucleotide variant Familial cancer of breast [RCV000817916]|Hereditary cancer-predisposing syndrome [RCV000574428]|Li-Fraumeni syndrome [RCV005357684] Chr22:28734546 [GRCh38]
Chr22:29130534 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-36AG[1] microsatellite not specified [RCV000606410] Chr22:28741795..28741796 [GRCh38]
Chr22:29137783..29137784 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1008+15C>G single nucleotide variant Familial cancer of breast [RCV002063910]|Hereditary cancer-predisposing syndrome [RCV000772546]|not specified [RCV000606524] Chr22:28699823 [GRCh38]
Chr22:29095811 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1471A>G (p.Met491Val) single nucleotide variant Familial cancer of breast [RCV000635890]|Hereditary cancer-predisposing syndrome [RCV004948498] Chr22:28689206 [GRCh38]
Chr22:29085194 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1085G>A (p.Cys362Tyr) single nucleotide variant Familial cancer of breast [RCV001853256]|Hereditary cancer-predisposing syndrome [RCV000574562]|Triple-negative breast cancer [RCV000202371] Chr22:28696911 [GRCh38]
Chr22:29092899 [GRCh37]
Chr22:22q12.1		 association|uncertain significance
NM_007194.4(CHEK2):c.592+13T>C single nucleotide variant Familial cancer of breast [RCV002062482]|not specified [RCV000421636] Chr22:28724964 [GRCh38]
Chr22:29120952 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.685G>A (p.Gly229Ser) single nucleotide variant CHEK2-related disorder [RCV004737552]|Familial cancer of breast [RCV001049856]|Hereditary cancer-predisposing syndrome [RCV000562708]|not provided [RCV000479721] Chr22:28712016 [GRCh38]
Chr22:29108004 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.284G>T (p.Arg95Leu) single nucleotide variant Familial cancer of breast [RCV000635601]|Hereditary cancer-predisposing syndrome [RCV004025465] Chr22:28734438 [GRCh38]
Chr22:29130426 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1259+2T>C single nucleotide variant Familial cancer of breast [RCV000635820] Chr22:28695708 [GRCh38]
Chr22:29091696 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.608A>C (p.Asp203Ala) single nucleotide variant Familial cancer of breast [RCV000635850] Chr22:28719470 [GRCh38]
Chr22:29115458 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1546dup (p.Ser516fs) duplication Familial cancer of breast [RCV000635853] Chr22:28687982..28687983 [GRCh38]
Chr22:29083970..29083971 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.694G>A (p.Gly232Arg) single nucleotide variant Familial cancer of breast [RCV000635858]|Hereditary cancer-predisposing syndrome [RCV004609462] Chr22:28712007 [GRCh38]
Chr22:29107995 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1225G>C (p.Asp409His) single nucleotide variant Familial cancer of breast [RCV000635860]|Hereditary cancer-predisposing syndrome [RCV001010424]|not provided [RCV001766359] Chr22:28695744 [GRCh38]
Chr22:29091732 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1063del (p.Leu355fs) deletion Familial cancer of breast [RCV000635875] Chr22:28696933 [GRCh38]
Chr22:29092921 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter) single nucleotide variant Colorectal cancer [RCV001543607]|Familial cancer of breast [RCV000635876]|Hereditary cancer-predisposing syndrome [RCV001027035] Chr22:28734643 [GRCh38]
Chr22:29130631 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.908+4del deletion Familial cancer of breast [RCV000635877] Chr22:28703501 [GRCh38]
Chr22:29099489 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1009-1G>A single nucleotide variant Familial cancer of breast [RCV000635904]|Hereditary cancer-predisposing syndrome [RCV005318466] Chr22:28696988 [GRCh38]
Chr22:29092976 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.802C>G (p.Leu268Val) single nucleotide variant Familial cancer of breast [RCV000635906]|Hereditary cancer-predisposing syndrome [RCV002406363]|not provided [RCV004588063] Chr22:28710050 [GRCh38]
Chr22:29106038 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1096-1G>T single nucleotide variant Familial cancer of breast [RCV000635919]|Gastric cancer [RCV003162844] Chr22:28695874 [GRCh38]
Chr22:29091862 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.406T>G (p.Tyr136Asp) single nucleotide variant Familial cancer of breast [RCV000635935] Chr22:28725281 [GRCh38]
Chr22:29121269 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1331A>G (p.Lys444Arg) single nucleotide variant Familial cancer of breast [RCV000635940]|Hereditary cancer-predisposing syndrome [RCV002257882] Chr22:28695171 [GRCh38]
Chr22:29091159 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.448del (p.Val150fs) deletion Familial cancer of breast [RCV000635943] Chr22:28725121 [GRCh38]
Chr22:29121109 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.75T>C (p.Val25=) single nucleotide variant Familial cancer of breast [RCV000635961]|Hereditary cancer-predisposing syndrome [RCV001026612] Chr22:28734647 [GRCh38]
Chr22:29130635 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.904G>C (p.Glu302Gln) single nucleotide variant Familial cancer of breast [RCV001226541]|Hereditary cancer-predisposing syndrome [RCV000571936] Chr22:28703509 [GRCh38]
Chr22:29099497 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.163T>G (p.Ser55Ala) single nucleotide variant Familial cancer of breast [RCV000541373]|Hereditary cancer-predisposing syndrome [RCV002404411] Chr22:28734559 [GRCh38]
Chr22:29130547 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1167C>A (p.Thr389=) single nucleotide variant Familial cancer of breast [RCV000636013]|Hereditary cancer-predisposing syndrome [RCV001017502] Chr22:28695802 [GRCh38]
Chr22:29091790 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NC_000022.10:g.(?_29105988)_(29108011_?)dup duplication Familial cancer of breast [RCV000636054] Chr22:28710000..28712023 [GRCh38]
Chr22:29105988..29108011 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.11:g.(?_28699832)_(28699943_?)del deletion Familial cancer of breast [RCV000636055] Chr22:28699832..28699943 [GRCh38]
Chr22:29095820..29095931 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28687891)_(28734727_?)del deletion Familial cancer of breast [RCV000636056] Chr22:28687891..28734727 [GRCh38]
Chr22:29083879..29130715 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.571C>G (p.Leu191Val) single nucleotide variant Familial cancer of breast [RCV001064430]|Hereditary cancer-predisposing syndrome [RCV000574623] Chr22:28724998 [GRCh38]
Chr22:29120986 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.292G>A (p.Ala98Thr) single nucleotide variant Familial cancer of breast [RCV001062214]|Hereditary cancer-predisposing syndrome [RCV000574737]|not provided [RCV001770502] Chr22:28734430 [GRCh38]
Chr22:29130418 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs) duplication Familial cancer of breast [RCV003335490]|Hereditary cancer-predisposing syndrome [RCV000569863] Chr22:28695771..28695772 [GRCh38]
Chr22:29091759..29091760 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys) single nucleotide variant Familial cancer of breast [RCV000698621]|Hereditary cancer-predisposing syndrome [RCV000570223]|Hereditary nonpolyposis colon cancer [RCV005357711] Chr22:28694066 [GRCh38]
Chr22:29090054 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.806A>C (p.Asn269Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000570328] Chr22:28710046 [GRCh38]
Chr22:29106034 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.136_137delinsTG (p.Met46Trp) indel Hereditary cancer-predisposing syndrome [RCV000570563] Chr22:28734585..28734586 [GRCh38]
Chr22:29130573..29130574 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer) indel Familial cancer of breast [RCV003470813]|Hereditary breast ovarian cancer syndrome [RCV003230544]|Hereditary cancer-predisposing syndrome [RCV000561232] Chr22:28695723..28695731 [GRCh38]
Chr22:29091711..29091719 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1607del (p.Pro536fs) deletion Familial cancer of breast [RCV000548349]|Gastric cancer [RCV003159785] Chr22:28687922 [GRCh38]
Chr22:29083910 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_007194.4(CHEK2):c.879del (p.Asp293fs) deletion Familial cancer of breast [RCV003335492]|Hereditary cancer-predisposing syndrome [RCV000565506] Chr22:28703534 [GRCh38]
Chr22:29099522 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.313A>C (p.Asn105His) single nucleotide variant Familial cancer of breast [RCV000697949]|Hereditary cancer-predisposing syndrome [RCV000566204]|not provided [RCV002281112] Chr22:28734409 [GRCh38]
Chr22:29130397 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs) duplication Familial cancer of breast [RCV000576866] Chr22:28689154..28689155 [GRCh38]
Chr22:29085142..29085143 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.792+18G>C single nucleotide variant not specified [RCV000607730] Chr22:28711891 [GRCh38]
Chr22:29107879 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1461+18C>T single nucleotide variant Familial cancer of breast [RCV002063943]|not specified [RCV000602425] Chr22:28694014 [GRCh38]
Chr22:29090002 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319G>C (p.Glu107Gln) single nucleotide variant Familial cancer of breast [RCV003500828]|Hereditary cancer-predisposing syndrome [RCV003293688] Chr22:28734403 [GRCh38]
Chr22:29130391 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1216C>G (p.Arg406Gly) single nucleotide variant Familial cancer of breast [RCV005102790]|Hereditary cancer-predisposing syndrome [RCV003293694] Chr22:28695753 [GRCh38]
Chr22:29091741 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1247T>C (p.Ile416Thr) single nucleotide variant Familial cancer of breast [RCV000804063]|Hereditary cancer-predisposing syndrome [RCV001010552]|not provided [RCV000523357] Chr22:28695722 [GRCh38]
Chr22:29091710 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.323G>A (p.Cys108Tyr) single nucleotide variant Familial cancer of breast [RCV000695165]|Hereditary cancer-predisposing syndrome [RCV000569424] Chr22:28725364 [GRCh38]
Chr22:29121352 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter) single nucleotide variant Familial cancer of breast [RCV000536951] Chr22:28695729 [GRCh38]
Chr22:29091717 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28710000)_(28712023_?)del deletion Familial cancer of breast [RCV000537081] Chr22:28710000..28712023 [GRCh38]
Chr22:29105988..29108011 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.657A>C (p.Glu219Asp) single nucleotide variant Familial cancer of breast [RCV001037457]|Hereditary cancer-predisposing syndrome [RCV000574277] Chr22:28719421 [GRCh38]
Chr22:29115409 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.856A>C (p.Ile286Leu) single nucleotide variant Familial cancer of breast [RCV000538972] Chr22:28703557 [GRCh38]
Chr22:29099545 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.409C>G (p.Arg137Gly) single nucleotide variant Familial cancer of breast [RCV000806371]|Hereditary cancer-predisposing syndrome [RCV000574297] Chr22:28725278 [GRCh38]
Chr22:29121266 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.18T>C (p.Asp6=) single nucleotide variant Familial cancer of breast [RCV003105985]|Hereditary cancer-predisposing syndrome [RCV000772691]|not specified [RCV000615349] Chr22:28734704 [GRCh38]
Chr22:29130692 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.709G>A (p.Ala237Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572015] Chr22:28711992 [GRCh38]
Chr22:29107980 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.241G>A (p.Glu81Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000572093] Chr22:28734481 [GRCh38]
Chr22:29130469 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1508A>G (p.Asn503Ser) single nucleotide variant Familial cancer of breast [RCV000540027]|Hereditary cancer-predisposing syndrome [RCV002395341] Chr22:28689169 [GRCh38]
Chr22:29085157 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1152A>G (p.Leu384=) single nucleotide variant Familial cancer of breast [RCV000540382]|Hereditary cancer-predisposing syndrome [RCV002350220] Chr22:28695817 [GRCh38]
Chr22:29091805 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter) single nucleotide variant Familial cancer of breast [RCV000540634]|Hereditary cancer-predisposing syndrome [RCV002384084] Chr22:28695205 [GRCh38]
Chr22:29091193 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.3G>T (p.Met1Ile) single nucleotide variant Familial cancer of breast [RCV000540790] Chr22:28734719 [GRCh38]
Chr22:29130707 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.232del (p.Gln78fs) deletion Hereditary cancer-predisposing syndrome [RCV000572266] Chr22:28734490 [GRCh38]
Chr22:29130478 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.269dup (p.Ala91fs) duplication Familial cancer of breast [RCV001858099]|Hereditary cancer-predisposing syndrome [RCV000574542] Chr22:28734452..28734453 [GRCh38]
Chr22:29130440..29130441 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1110G>A (p.Gly370=) single nucleotide variant Familial cancer of breast [RCV001444264]|not specified [RCV000600506] Chr22:28695859 [GRCh38]
Chr22:29091847 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.415T>C (p.Tyr139His) single nucleotide variant Familial cancer of breast [RCV000796300]|Hereditary breast ovarian cancer syndrome [RCV004689796]|Hereditary cancer-predisposing syndrome [RCV000568786] Chr22:28725272 [GRCh38]
Chr22:29121260 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.320-7A>G single nucleotide variant CHEK2-related cancer predisposition [RCV005357802]|Familial cancer of breast [RCV000635970]|Hereditary cancer-predisposing syndrome [RCV001525244]|not specified [RCV000616212] Chr22:28725374 [GRCh38]
Chr22:29121362 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1576G>A (p.Glu526Lys) single nucleotide variant Familial cancer of breast [RCV001224645]|Hereditary cancer-predisposing syndrome [RCV000572342] Chr22:28687953 [GRCh38]
Chr22:29083941 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.673A>C (p.Thr225Pro) single nucleotide variant Familial cancer of breast [RCV000635636]|Hereditary cancer-predisposing syndrome [RCV000569539]|not provided [RCV004794411] Chr22:28719405 [GRCh38]
Chr22:29115393 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28689129)_(28696993_?)del deletion Familial cancer of breast [RCV000533464] Chr22:28689129..28696993 [GRCh38]
Chr22:29085117..29092981 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.881C>G (p.Ala294Gly) single nucleotide variant Familial cancer of breast [RCV001062050]|Hereditary cancer-predisposing syndrome [RCV000569720] Chr22:28703532 [GRCh38]
Chr22:29099520 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.133del (p.Thr45fs) deletion Familial cancer of breast [RCV001386761]|Hereditary cancer-predisposing syndrome [RCV000572454] Chr22:28734589 [GRCh38]
Chr22:29130577 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1561C>A (p.Arg521=) single nucleotide variant Familial cancer of breast [RCV005248218]|Hereditary cancer-predisposing syndrome [RCV000572495] Chr22:28687968 [GRCh38]
Chr22:29083956 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.-11A>G single nucleotide variant not specified [RCV000602361] Chr22:28741773 [GRCh38]
Chr22:29137761 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.908+16T>G single nucleotide variant Familial cancer of breast [RCV002531176]|Hereditary cancer-predisposing syndrome [RCV001191387]|not specified [RCV000613331] Chr22:28703489 [GRCh38]
Chr22:29099477 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.602T>C (p.Phe201Ser) single nucleotide variant Familial cancer of breast [RCV003117339]|Hereditary cancer-predisposing syndrome [RCV000569750] Chr22:28719476 [GRCh38]
Chr22:29115464 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly) single nucleotide variant Familial cancer of breast [RCV000635657]|Hereditary cancer-predisposing syndrome [RCV000569874]|not specified [RCV005231089] Chr22:28694111 [GRCh38]
Chr22:29090099 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.329A>C (p.Asn110Thr) single nucleotide variant Familial cancer of breast [RCV001309875]|Hereditary cancer-predisposing syndrome [RCV000572742] Chr22:28725358 [GRCh38]
Chr22:29121346 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.570A>T (p.Ala190=) single nucleotide variant Familial cancer of breast [RCV003767103]|Hereditary cancer-predisposing syndrome [RCV000569977] Chr22:28724999 [GRCh38]
Chr22:29120987 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.852C>T (p.Cys284=) single nucleotide variant Familial cancer of breast [RCV000867903]|Hereditary cancer-predisposing syndrome [RCV000570145] Chr22:28703561 [GRCh38]
Chr22:29099549 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1209G>T (p.Gly403=) single nucleotide variant Familial cancer of breast [RCV005091735]|Hereditary cancer-predisposing syndrome [RCV005318455]|not specified [RCV000616732] Chr22:28695760 [GRCh38]
Chr22:29091748 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter) single nucleotide variant Familial cancer of breast [RCV001858193]|Hereditary cancer-predisposing syndrome [RCV000570312] Chr22:28719449 [GRCh38]
Chr22:29115437 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1060_1071del (p.Leu354_Ser357del) deletion Hereditary cancer-predisposing syndrome [RCV000573115] Chr22:28696925..28696936 [GRCh38]
Chr22:29092913..29092924 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1462-18T>C single nucleotide variant Familial cancer of breast [RCV002531611]|not specified [RCV000610866] Chr22:28689233 [GRCh38]
Chr22:29085221 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1462-20T>G single nucleotide variant not specified [RCV000610918] Chr22:28689235 [GRCh38]
Chr22:29085223 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.600del (p.Phe202fs) deletion Familial cancer of breast [RCV000527688] Chr22:28719478 [GRCh38]
Chr22:29115466 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.109_119del (p.Gly37fs) deletion Familial cancer of breast [RCV000527932] Chr22:28734603..28734613 [GRCh38]
Chr22:29130591..29130601 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.395G>A (p.Arg132Lys) single nucleotide variant Familial cancer of breast [RCV000528472] Chr22:28725292 [GRCh38]
Chr22:29121280 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1614G>A (p.Val538=) single nucleotide variant Familial cancer of breast [RCV001467532]|Hereditary cancer-predisposing syndrome [RCV002404410] Chr22:28687915 [GRCh38]
Chr22:29083903 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.36T>C (p.Ser12=) single nucleotide variant Familial cancer of breast [RCV001451271]|Hereditary cancer-predisposing syndrome [RCV000573328] Chr22:28734686 [GRCh38]
Chr22:29130674 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.909-19C>T single nucleotide variant Familial cancer of breast [RCV002062192]|not specified [RCV000614126] Chr22:28699956 [GRCh38]
Chr22:29095944 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.294C>T (p.Ala98=) single nucleotide variant Familial cancer of breast [RCV000531728] Chr22:28734428 [GRCh38]
Chr22:29130416 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1506A>G (p.Glu502=) single nucleotide variant Familial cancer of breast [RCV000532296]|Hereditary cancer-predisposing syndrome [RCV001189372] Chr22:28689171 [GRCh38]
Chr22:29085159 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1259+14T>C single nucleotide variant Familial cancer of breast [RCV003767768]|Hereditary cancer-predisposing syndrome [RCV000772688]|not specified [RCV000611724] Chr22:28695696 [GRCh38]
Chr22:29091684 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-4C>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293695] Chr22:28734725 [GRCh38]
Chr22:29130713 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29130385)_(29130715_?)del deletion Familial cancer of breast [RCV000536147] Chr22:29130385..29130715 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.339C>T (p.Tyr113=) single nucleotide variant Familial cancer of breast [RCV000635994]|Hereditary cancer-predisposing syndrome [RCV000571368] Chr22:28725348 [GRCh38]
Chr22:29121336 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1274C>T (p.Pro425Leu) single nucleotide variant Familial cancer of breast [RCV000703439]|Hereditary cancer-predisposing syndrome [RCV000571377]|not provided [RCV005004250] Chr22:28695228 [GRCh38]
Chr22:29091216 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1046A>G (p.Lys349Arg) single nucleotide variant Familial cancer of breast [RCV000533975]|Hereditary cancer-predisposing syndrome [RCV005318421] Chr22:28696950 [GRCh38]
Chr22:29092938 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.692G>A (p.Cys231Tyr) single nucleotide variant Familial cancer of breast [RCV000535275]|Hereditary cancer-predisposing syndrome [RCV001185979] Chr22:28712009 [GRCh38]
Chr22:29107997 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.939G>A (p.Val313=) single nucleotide variant Familial cancer of breast [RCV000535340]|Hereditary cancer-predisposing syndrome [RCV003302805] Chr22:28699907 [GRCh38]
Chr22:29095895 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.793-9_793-8del deletion Familial cancer of breast [RCV000636011]|not provided [RCV003318604] Chr22:28710067..28710068 [GRCh38]
Chr22:29106055..29106056 [GRCh37]
Chr22:22q12.1		 likely benign
GRCh37/hg19 22q12.1(chr22:29056236-29122997)x3 copy number gain See cases [RCV000512270] Chr22:29056236..29122997 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-7+10A>T single nucleotide variant not specified [RCV000602175] Chr22:28741759 [GRCh38]
Chr22:29137747 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.444+18A>G single nucleotide variant Familial cancer of breast [RCV002062812]|not specified [RCV000604769] Chr22:28725225 [GRCh38]
Chr22:29121213 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.491G>C (p.Ser164Thr) single nucleotide variant Familial cancer of breast [RCV000635612] Chr22:28725078 [GRCh38]
Chr22:29121066 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.110G>T (p.Gly37Val) single nucleotide variant Familial cancer of breast [RCV000635617] Chr22:28734612 [GRCh38]
Chr22:29130600 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1010A>G (p.Tyr337Cys) single nucleotide variant Familial cancer of breast [RCV000635638] Chr22:28696986 [GRCh38]
Chr22:29092974 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.484G>T (p.Asp162Tyr) single nucleotide variant Familial cancer of breast [RCV000635643]|Hereditary cancer-predisposing syndrome [RCV002331137] Chr22:28725085 [GRCh38]
Chr22:29121073 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1027A>G (p.Ile343Val) single nucleotide variant Familial cancer of breast [RCV000635653]|Hereditary cancer-predisposing syndrome [RCV002386015]|not provided [RCV004691981] Chr22:28696969 [GRCh38]
Chr22:29092957 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.529A>G (p.Lys177Glu) single nucleotide variant Familial cancer of breast [RCV000635684] Chr22:28725040 [GRCh38]
Chr22:29121028 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.853A>T (p.Ile285Phe) single nucleotide variant Familial cancer of breast [RCV000635696] Chr22:28703560 [GRCh38]
Chr22:29099548 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.919G>A (p.Gly307Arg) single nucleotide variant Familial cancer of breast [RCV000635700]|Hereditary cancer-predisposing syndrome [RCV001018993] Chr22:28699927 [GRCh38]
Chr22:29095915 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.721A>G (p.Lys241Glu) single nucleotide variant Familial cancer of breast [RCV000635707] Chr22:28711980 [GRCh38]
Chr22:29107968 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1579G>T (p.Ala527Ser) single nucleotide variant Familial cancer of breast [RCV000635725]|Hereditary cancer-predisposing syndrome [RCV002404771] Chr22:28687950 [GRCh38]
Chr22:29083938 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.706del (p.Leu236fs) deletion Familial cancer of breast [RCV000635732] Chr22:28711995 [GRCh38]
Chr22:29107983 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter) single nucleotide variant Familial cancer of breast [RCV000635733]|Hereditary cancer-predisposing syndrome [RCV002331139] Chr22:28725101 [GRCh38]
Chr22:29121089 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV001814204]|Familial cancer of breast [RCV000635735]|Hereditary cancer-predisposing syndrome [RCV000771629]|not provided [RCV003483696] Chr22:28725348 [GRCh38]
Chr22:29121336 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1114T>C (p.Ser372Pro) single nucleotide variant Familial cancer of breast [RCV000635738]|Hereditary cancer-predisposing syndrome [RCV002438682] Chr22:28695855 [GRCh38]
Chr22:29091843 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.16G>C (p.Asp6His) single nucleotide variant Familial cancer of breast [RCV000635765]|Hereditary cancer-predisposing syndrome [RCV002404772] Chr22:28734706 [GRCh38]
Chr22:29130694 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn) single nucleotide variant Familial cancer of breast [RCV000635766]|Hereditary cancer-predisposing syndrome [RCV002509482] Chr22:28694101 [GRCh38]
Chr22:29090089 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1409A>G (p.Asp470Gly) single nucleotide variant Familial cancer of breast [RCV000635775]|Hereditary cancer-predisposing syndrome [RCV002388039] Chr22:28694084 [GRCh38]
Chr22:29090072 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+6T>C single nucleotide variant Familial cancer of breast [RCV000635776] Chr22:28710000 [GRCh38]
Chr22:29105988 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1543-9_1546del deletion Familial cancer of breast [RCV000635778] Chr22:28687983..28687995 [GRCh38]
Chr22:29083971..29083983 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1543-12_1543-3del deletion not specified [RCV000600052] Chr22:28687989..28687998 [GRCh38]
Chr22:29083977..29083986 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.846+9del deletion Familial cancer of breast [RCV003607336]|not specified [RCV000599745] Chr22:28709997 [GRCh38]
Chr22:29105985 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1114T>G (p.Ser372Ala) single nucleotide variant Familial cancer of breast [RCV001858097]|Hereditary cancer-predisposing syndrome [RCV000561007] Chr22:28695855 [GRCh38]
Chr22:29091843 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1153T>G (p.Cys385Gly) single nucleotide variant Familial cancer of breast [RCV000635844] Chr22:28695816 [GRCh38]
Chr22:29091804 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1128del (p.Glu377fs) deletion Breast neoplasm [RCV000677874] Chr22:28695841 [GRCh38]
Chr22:29091829 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.898G>A (p.Val300Ile) single nucleotide variant Familial cancer of breast [RCV000635793]|Hereditary cancer-predisposing syndrome [RCV004025466] Chr22:28703515 [GRCh38]
Chr22:29099503 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1471A>T (p.Met491Leu) single nucleotide variant Familial cancer of breast [RCV000635827]|Hereditary cancer-predisposing syndrome [RCV002388040]|not specified [RCV005231208] Chr22:28689206 [GRCh38]
Chr22:29085194 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.994C>G (p.Leu332Val) single nucleotide variant Familial cancer of breast [RCV000635828]|Hereditary cancer-predisposing syndrome [RCV002386016] Chr22:28699852 [GRCh38]
Chr22:29095840 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+2dup duplication Familial cancer of breast [RCV000635834]|Hereditary cancer-predisposing syndrome [RCV002448969] Chr22:28710003..28710004 [GRCh38]
Chr22:29105991..29105992 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847-3T>G single nucleotide variant Familial cancer of breast [RCV000635885] Chr22:28703569 [GRCh38]
Chr22:29099557 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.912G>A (p.Met304Ile) single nucleotide variant Familial cancer of breast [RCV000635892]|not provided [RCV001756055] Chr22:28699934 [GRCh38]
Chr22:29095922 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.614C>T (p.Thr205Ile) single nucleotide variant Familial cancer of breast [RCV000635894]|Hereditary cancer-predisposing syndrome [RCV001024944]|not specified [RCV001816577] Chr22:28719464 [GRCh38]
Chr22:29115452 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847-5C>G single nucleotide variant Familial cancer of breast [RCV000635914]|not provided [RCV001756056]|not specified [RCV002248837] Chr22:28703571 [GRCh38]
Chr22:29099559 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.740C>T (p.Ala247Val) single nucleotide variant Familial cancer of breast [RCV000635922]|Hereditary cancer-predisposing syndrome [RCV002386018] Chr22:28711961 [GRCh38]
Chr22:29107949 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.292del (p.Ala98fs) deletion Familial cancer of breast [RCV000635948]|Hereditary cancer-predisposing syndrome [RCV002438685] Chr22:28734430 [GRCh38]
Chr22:29130418 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.31C>G (p.Gln11Glu) single nucleotide variant Familial cancer of breast [RCV000635955] Chr22:28734691 [GRCh38]
Chr22:29130679 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1034A>T (p.His345Leu) single nucleotide variant Familial cancer of breast [RCV000635957] Chr22:28696962 [GRCh38]
Chr22:29092950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1184T>C (p.Val395Ala) single nucleotide variant Familial cancer of breast [RCV000635959]|Hereditary cancer-predisposing syndrome [RCV005318467] Chr22:28695785 [GRCh38]
Chr22:29091773 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.885A>G (p.Glu295=) single nucleotide variant Familial cancer of breast [RCV001462161]|Hereditary cancer-predisposing syndrome [RCV001182083]|not provided [RCV004783830] Chr22:28703528 [GRCh38]
Chr22:29099516 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.846+10A>T single nucleotide variant Familial cancer of breast [RCV000635974] Chr22:28709996 [GRCh38]
Chr22:29105984 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1557A>C (p.Arg519=) single nucleotide variant Familial cancer of breast [RCV000635979] Chr22:28687972 [GRCh38]
Chr22:29083960 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.908+8G>A single nucleotide variant Familial cancer of breast [RCV001430951] Chr22:28703497 [GRCh38]
Chr22:29099485 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.684-4C>T single nucleotide variant Familial cancer of breast [RCV000635991]|Hereditary cancer-predisposing syndrome [RCV002360544] Chr22:28712021 [GRCh38]
Chr22:29108009 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.102G>A (p.Gln34=) single nucleotide variant Familial cancer of breast [RCV000636003]|Hereditary cancer-predisposing syndrome [RCV002386019] Chr22:28734620 [GRCh38]
Chr22:29130608 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=) single nucleotide variant Familial cancer of breast [RCV000636005]|Hereditary cancer-predisposing syndrome [RCV001178560]|not specified [RCV003479180] Chr22:28687906 [GRCh38]
Chr22:29083894 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.444+4G>A single nucleotide variant Familial cancer of breast [RCV000636009] Chr22:28725239 [GRCh38]
Chr22:29121227 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.286T>C (p.Leu96=) single nucleotide variant Familial cancer of breast [RCV000636010]|Hereditary cancer-predisposing syndrome [RCV003303006] Chr22:28734436 [GRCh38]
Chr22:29130424 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1320C>T (p.Ile440=) single nucleotide variant Familial cancer of breast [RCV000636029] Chr22:28695182 [GRCh38]
Chr22:29091170 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.177A>T (p.Thr59=) single nucleotide variant Familial cancer of breast [RCV000636053] Chr22:28734545 [GRCh38]
Chr22:29130533 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-26G>C single nucleotide variant not specified [RCV000600422] Chr22:28741788 [GRCh38]
Chr22:29137776 [GRCh37]
Chr22:22q12.1		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.1(chr22:29115517-29152791)x1 copy number loss See cases [RCV000512465] Chr22:29115517..29152791 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1087C>T (p.Leu363Phe) single nucleotide variant Familial cancer of breast [RCV000686687] Chr22:28696909 [GRCh38]
Chr22:29092897 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser) single nucleotide variant Familial cancer of breast [RCV000662711]|Hereditary cancer-predisposing syndrome [RCV004026069]|not provided [RCV004702266] Chr22:28695226 [GRCh38]
Chr22:29091214 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter) single nucleotide variant Familial cancer of breast [RCV002531391]|Sarcoma [RCV000677872] Chr22:28725346 [GRCh38]
Chr22:29121334 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.422del (p.Lys141fs) deletion not provided [RCV000657401] Chr22:28725265 [GRCh38]
Chr22:29121253 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.836del (p.Lys279fs) deletion Familial cancer of breast [RCV001861676]|Hereditary cancer-predisposing syndrome [RCV004948551]|not provided [RCV000657290] Chr22:28710016 [GRCh38]
Chr22:29106004 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.432dup (p.Arg145fs) duplication Familial cancer of breast [RCV003336122]|not provided [RCV000657379] Chr22:28725254..28725255 [GRCh38]
Chr22:29121242..29121243 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.593-14C>G single nucleotide variant CHEK2-related cancer predisposition [RCV005414525]|Familial cancer of breast [RCV000662945]|Hereditary cancer-predisposing syndrome [RCV001181298] Chr22:28719499 [GRCh38]
Chr22:29115487 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.735_742dup (p.Ile248delinsLysTer) duplication Familial cancer of breast [RCV005091885]|not provided [RCV000657340] Chr22:28711958..28711959 [GRCh38]
Chr22:29107946..29107947 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1348G>A (p.Glu450Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000664265] Chr22:28695154 [GRCh38]
Chr22:29091142 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-28_909-20del deletion Familial cancer of breast [RCV000663167]|Hereditary cancer-predisposing syndrome [RCV000773639] Chr22:28699957..28699965 [GRCh38]
Chr22:29095945..29095953 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.-6-2A>G single nucleotide variant Familial cancer of breast [RCV000663043] Chr22:28734729 [GRCh38]
Chr22:29130717 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847-6T>G single nucleotide variant Familial cancer of breast [RCV000663238] Chr22:28703572 [GRCh38]
Chr22:29099560 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs) duplication Familial cancer of breast [RCV000699597] Chr22:28695774..28695775 [GRCh38]
Chr22:29091762..29091763 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.506T>G (p.Phe169Cys) single nucleotide variant Familial cancer of breast [RCV000699653] Chr22:28725063 [GRCh38]
Chr22:29121051 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.792_792+1del deletion CHEK2-related cancer predisposition [RCV005367515]|Familial cancer of breast [RCV000699766]|Hereditary cancer-predisposing syndrome [RCV004026484] Chr22:28711908..28711909 [GRCh38]
Chr22:29107896..29107897 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1404_1407delinsT (p.Val469del) indel Familial cancer of breast [RCV000686401] Chr22:28694086..28694089 [GRCh38]
Chr22:29090074..29090077 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375+16G>A single nucleotide variant Familial cancer of breast [RCV002066993]|not provided [RCV000679673] Chr22:28695111 [GRCh38]
Chr22:29091099 [GRCh37]
Chr22:22q12.1		 likely benign
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
NM_007194.4(CHEK2):c.716A>T (p.Glu239Val) single nucleotide variant CHEK2-related cancer predisposition [RCV004720319]|Familial cancer of breast [RCV002542390]|Hereditary cancer-predisposing syndrome [RCV001804652] Chr22:28711985 [GRCh38]
Chr22:29107973 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1379T>C (p.Leu460Pro) single nucleotide variant Familial cancer of breast [RCV000702639]|Hereditary cancer-predisposing syndrome [RCV001011254] Chr22:28694114 [GRCh38]
Chr22:29090102 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.818A>T (p.Glu273Val) single nucleotide variant Familial cancer of breast [RCV000688529]|Hereditary cancer-predisposing syndrome [RCV003343991] Chr22:28710034 [GRCh38]
Chr22:29106022 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.683+2T>C single nucleotide variant Familial cancer of breast [RCV000685127]|Hereditary cancer-predisposing syndrome [RCV004026184]|Malignant tumor of breast [RCV001357999] Chr22:28719393 [GRCh38]
Chr22:29115381 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.278G>C (p.Trp93Ser) single nucleotide variant Familial cancer of breast [RCV000706680]|not provided [RCV001775979] Chr22:28734444 [GRCh38]
Chr22:29130432 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr) single nucleotide variant Familial cancer of breast [RCV000692738] Chr22:28725356 [GRCh38]
Chr22:29121344 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.325G>C (p.Val109Leu) single nucleotide variant Familial cancer of breast [RCV000694566] Chr22:28725362 [GRCh38]
Chr22:29121350 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1164del (p.Thr389fs) deletion Familial cancer of breast [RCV003336160]|Hereditary cancer-predisposing syndrome [RCV000708608] Chr22:28695805 [GRCh38]
Chr22:29091793 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.828_830del (p.Ile276_Leu277delinsMet) deletion Familial cancer of breast [RCV000687235] Chr22:28710022..28710024 [GRCh38]
Chr22:29106010..29106012 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1007del (p.Gln336fs) deletion Familial cancer of breast [RCV000694776]|Hereditary cancer-predisposing syndrome [RCV005318483]|not provided [RCV003319406] Chr22:28699839 [GRCh38]
Chr22:29095827 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.486T>A (p.Asp162Glu) single nucleotide variant Familial cancer of breast [RCV000687279] Chr22:28725083 [GRCh38]
Chr22:29121071 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319+3965C>T single nucleotide variant CHEK2-related disorder [RCV004737971]|Familial cancer of breast [RCV000709601]|Familial cancer of breast [RCV002485782]|Hereditary breast ovarian cancer syndrome [RCV001030690] Chr22:28730438 [GRCh38]
Chr22:29126426 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.-9G>C single nucleotide variant Familial cancer of breast [RCV000709603] Chr22:28741771 [GRCh38]
Chr22:29137759 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1208G>T (p.Gly403Val) single nucleotide variant Familial cancer of breast [RCV000704505]|Hereditary cancer-predisposing syndrome [RCV002343554]|not provided [RCV003227839] Chr22:28695761 [GRCh38]
Chr22:29091749 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.112A>G (p.Ile38Val) single nucleotide variant Familial cancer of breast [RCV000707276]|Hereditary cancer-predisposing syndrome [RCV001184818] Chr22:28734610 [GRCh38]
Chr22:29130598 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.320A>G (p.Glu107Gly) single nucleotide variant Familial cancer of breast [RCV000694896]|Hereditary cancer-predisposing syndrome [RCV001019235] Chr22:28725367 [GRCh38]
Chr22:29121355 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro) single nucleotide variant Familial cancer of breast [RCV000694957]|Hereditary cancer-predisposing syndrome [RCV002360764]|not provided [RCV003238184] Chr22:28719401 [GRCh38]
Chr22:29115389 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1552A>G (p.Ser518Gly) single nucleotide variant Familial cancer of breast [RCV000704950]|Hereditary cancer-predisposing syndrome [RCV001012128]|not provided [RCV001556418] Chr22:28687977 [GRCh38]
Chr22:29083965 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.350G>T (p.Arg117Met) single nucleotide variant Familial cancer of breast [RCV000707491]|Hereditary cancer-predisposing syndrome [RCV001020488] Chr22:28725337 [GRCh38]
Chr22:29121325 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+2T>C single nucleotide variant Breast and/or ovarian cancer [RCV003492132]|Familial cancer of breast [RCV000693670]|Hereditary cancer-predisposing syndrome [RCV002388249]|not provided [RCV000708609] Chr22:28694030 [GRCh38]
Chr22:29090018 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.432del (p.Arg145fs) deletion Familial cancer of breast [RCV000690907]|Hereditary cancer-predisposing syndrome [RCV002332426]|not provided [RCV001571355] Chr22:28725255 [GRCh38]
Chr22:29121243 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1375G>A (p.Ala459Thr) single nucleotide variant Familial cancer of breast [RCV000691003]|Hereditary breast ovarian cancer syndrome [RCV005251170]|Hereditary cancer-predisposing syndrome [RCV002386191] Chr22:28695127 [GRCh38]
Chr22:29091115 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.932A>G (p.Asp311Gly) single nucleotide variant Familial cancer of breast [RCV000705247]|Hereditary cancer-predisposing syndrome [RCV002369959] Chr22:28699914 [GRCh38]
Chr22:29095902 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.621del (p.Asp207fs) deletion Familial cancer of breast [RCV000705252] Chr22:28719457 [GRCh38]
Chr22:29115445 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28709996)_(28734731_?)del deletion Familial cancer of breast [RCV000707833] Chr22:28709996..28734731 [GRCh38]
Chr22:29105984..29130719 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28694026)_(28734727_?)del deletion Familial cancer of breast [RCV000707896] Chr22:28694026..28734727 [GRCh38]
Chr22:29090014..29130715 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29120955)_(29121365_?)dup duplication Familial cancer of breast [RCV000707903] Chr22:28724967..28725377 [GRCh38]
Chr22:29120955..29121365 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.11:g.(?_28724967)_(28734731_?)del deletion Familial cancer of breast [RCV000708015] Chr22:28724967..28734731 [GRCh38]
Chr22:29120955..29130719 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29083875)_(29085213_?)dup duplication Familial cancer of breast [RCV000708041] Chr22:28687887..28689225 [GRCh38]
Chr22:29083875..29085213 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.971G>A (p.Cys324Tyr) single nucleotide variant Familial cancer of breast [RCV000688816]|Hereditary cancer-predisposing syndrome [RCV004948580] Chr22:28699875 [GRCh38]
Chr22:29095863 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.556A>T (p.Asn186Tyr) single nucleotide variant Familial cancer of breast [RCV000688890] Chr22:28725013 [GRCh38]
Chr22:29121001 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.887A>G (p.Asp296Gly) single nucleotide variant Familial cancer of breast [RCV000705764]|Hereditary cancer-predisposing syndrome [RCV001525428] Chr22:28703526 [GRCh38]
Chr22:29099514 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28709996)_(28712027_?)del deletion Familial cancer of breast [RCV000708078] Chr22:28709996..28712027 [GRCh38]
Chr22:29105984..29108015 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1598C>G (p.Thr533Arg) single nucleotide variant Familial cancer of breast [RCV000699293] Chr22:28687931 [GRCh38]
Chr22:29083919 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.591A>G (p.Lys197=) single nucleotide variant Familial cancer of breast [RCV000688922] Chr22:28724978 [GRCh38]
Chr22:29120966 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29105984)_(29115483_?)dup duplication Familial cancer of breast [RCV000708150] Chr22:28709996..28719495 [GRCh38]
Chr22:29105984..29115483 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.124T>A (p.Ser42Thr) single nucleotide variant Familial cancer of breast [RCV000689101] Chr22:28734598 [GRCh38]
Chr22:29130586 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.148A>C (p.Ser50Arg) single nucleotide variant Familial cancer of breast [RCV000694276]|Hereditary cancer-predisposing syndrome [RCV001011845]|not specified [RCV003320478] Chr22:28734574 [GRCh38]
Chr22:29130562 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.200C>T (p.Ser67Phe) single nucleotide variant Familial cancer of breast [RCV000685881]|Hereditary cancer-predisposing syndrome [RCV001191643] Chr22:28734522 [GRCh38]
Chr22:29130510 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.304G>A (p.Gly102Arg) single nucleotide variant Familial cancer of breast [RCV000689346]|Hereditary cancer-predisposing syndrome [RCV002442434] Chr22:28734418 [GRCh38]
Chr22:29130406 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28695117)_(28703576_?)del deletion Familial cancer of breast [RCV004583759] Chr22:28695117..28703576 [GRCh38]
Chr22:29091105..29099564 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.268C>T (p.Pro90Ser) single nucleotide variant Familial cancer of breast [RCV000700391]|Hereditary cancer-predisposing syndrome [RCV001016305]|not provided [RCV002473119] Chr22:28734454 [GRCh38]
Chr22:29130442 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.118_133del (p.Ser40fs) deletion Familial cancer of breast [RCV000703737] Chr22:28734589..28734604 [GRCh38]
Chr22:29130577..29130592 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.952del (p.Arg318fs) deletion Breast and/or ovarian cancer [RCV001798966]|Familial cancer of breast [RCV000706341]|Hereditary breast ovarian cancer syndrome [RCV004782522]|Hereditary cancer-predisposing syndrome [RCV002369968]|not provided [RCV003478448] Chr22:28699894 [GRCh38]
Chr22:29095882 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1543-3C>G single nucleotide variant Familial cancer of breast [RCV000706472] Chr22:28687989 [GRCh38]
Chr22:29083977 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter) single nucleotide variant Familial cancer of breast [RCV000686426] Chr22:28694039 [GRCh38]
Chr22:29090027 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.215A>C (p.Tyr72Ser) single nucleotide variant Familial cancer of breast [RCV000700923]|Hereditary cancer-predisposing syndrome [RCV001175832] Chr22:28734507 [GRCh38]
Chr22:29130495 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.374T>C (p.Phe125Ser) single nucleotide variant Familial cancer of breast [RCV000701108]|Hereditary cancer-predisposing syndrome [RCV004948615] Chr22:28725313 [GRCh38]
Chr22:29121301 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.869del (p.Asn290fs) deletion Familial cancer of breast [RCV000689709]|Hereditary cancer-predisposing syndrome [RCV004026334] Chr22:28703544 [GRCh38]
Chr22:29099532 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.193A>G (p.Thr65Ala) single nucleotide variant Familial cancer of breast [RCV000692543] Chr22:28734529 [GRCh38]
Chr22:29130517 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1238T>C (p.Leu413Ser) single nucleotide variant Familial cancer of breast [RCV000692596]|Hereditary cancer-predisposing syndrome [RCV002369864] Chr22:28695731 [GRCh38]
Chr22:29091719 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.430T>C (p.Phe144Leu) single nucleotide variant Familial cancer of breast [RCV000698264] Chr22:28725257 [GRCh38]
Chr22:29121245 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.391A>G (p.Lys131Glu) single nucleotide variant Familial cancer of breast [RCV000698440]|Hereditary cancer-predisposing syndrome [RCV001183321] Chr22:28725296 [GRCh38]
Chr22:29121284 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.638C>G (p.Pro213Arg) single nucleotide variant Familial cancer of breast [RCV000692345]|Hereditary cancer-predisposing syndrome [RCV002352141] Chr22:28719440 [GRCh38]
Chr22:29115428 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1592A>G (p.Glu531Gly) single nucleotide variant Familial cancer of breast [RCV000694661]|Hereditary cancer-predisposing syndrome [RCV001191953] Chr22:28687937 [GRCh38]
Chr22:29083925 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1313A>T (p.Asp438Val) single nucleotide variant Familial cancer of breast [RCV001246391]|Hereditary cancer-predisposing syndrome [RCV000708694] Chr22:28695189 [GRCh38]
Chr22:29091177 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1619C>T (p.Ala540Val) single nucleotide variant Familial cancer of breast [RCV001210648]|Hereditary cancer-predisposing syndrome [RCV000708696] Chr22:28687910 [GRCh38]
Chr22:29083898 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.911T>A (p.Met304Lys) single nucleotide variant Familial cancer of breast [RCV005092055]|Hereditary cancer-predisposing syndrome [RCV000708698] Chr22:28699935 [GRCh38]
Chr22:29095923 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.(908+1_909-1)_(1095+1_1096-1)del deletion Hereditary cancer-predisposing syndrome [RCV000708773]   pathogenic
NM_007194.4(CHEK2):c.1022del (p.Asn341fs) deletion Familial cancer of breast [RCV000706598]|Hereditary cancer-predisposing syndrome [RCV005318496] Chr22:28696974 [GRCh38]
Chr22:29092962 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.62C>T (p.Pro21Leu) single nucleotide variant Familial cancer of breast [RCV000694803]|Hereditary cancer-predisposing syndrome [RCV004025220] Chr22:28734660 [GRCh38]
Chr22:29130648 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser) single nucleotide variant Familial cancer of breast [RCV000709594] Chr22:28687962 [GRCh38]
Chr22:29083950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs) deletion Familial cancer of breast [RCV000709595] Chr22:28695140..28695141 [GRCh38]
Chr22:29091128..29091129 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter) single nucleotide variant Familial cancer of breast [RCV000709598]|Hereditary cancer-predisposing syndrome [RCV002386280] Chr22:28699858 [GRCh38]
Chr22:29095846 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg) single nucleotide variant Familial cancer of breast [RCV000709599]|Hereditary cancer-predisposing syndrome [RCV005318499] Chr22:28725295 [GRCh38]
Chr22:29121283 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319+3966G>A single nucleotide variant CHEK2-related disorder [RCV004535758]|Familial cancer of breast [RCV000709600]|not provided [RCV000997891] Chr22:28730437 [GRCh38]
Chr22:29126425 [GRCh37]
Chr22:22q12.1		 likely pathogenic|likely benign|uncertain significance
NM_007194.4(CHEK2):c.334_336del (p.Asn112del) deletion Familial cancer of breast [RCV000697432] Chr22:28725351..28725353 [GRCh38]
Chr22:29121339..29121341 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.302A>G (p.Asp101Gly) single nucleotide variant Familial cancer of breast [RCV000692811]|not provided [RCV004546552] Chr22:28734420 [GRCh38]
Chr22:29130408 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.434G>C (p.Arg145Pro) single nucleotide variant CHEK2-related cancer predisposition [RCV005357954]|Familial cancer of breast [RCV001050108]|Hereditary cancer-predisposing syndrome [RCV000708697]|not provided [RCV004702365] Chr22:28725253 [GRCh38]
Chr22:29121241 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.971del (p.Cys324fs) deletion Familial cancer of breast [RCV000709716] Chr22:28699875 [GRCh38]
Chr22:29095863 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.494del (p.Gly165fs) deletion Familial cancer of breast [RCV000709717] Chr22:28725075 [GRCh38]
Chr22:29121063 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1134del (p.Ser379fs) deletion Familial cancer of breast [RCV000709718] Chr22:28695835 [GRCh38]
Chr22:29091823 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.256G>A (p.Glu86Lys) single nucleotide variant Familial cancer of breast [RCV000707035]|not provided [RCV003480796] Chr22:28734466 [GRCh38]
Chr22:29130454 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-3C>T single nucleotide variant Familial cancer of breast [RCV000690302] Chr22:28699940 [GRCh38]
Chr22:29095928 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter) single nucleotide variant Familial cancer of breast [RCV000707182]|Hereditary cancer-predisposing syndrome [RCV003165931] Chr22:28689212 [GRCh38]
Chr22:29085200 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.296T>A (p.Leu99His) single nucleotide variant Familial cancer of breast [RCV000693230] Chr22:28734426 [GRCh38]
Chr22:29130414 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095+2T>G single nucleotide variant Familial cancer of breast [RCV000695376]|Malignant lymphoma, large B-cell, diffuse [RCV003448982] Chr22:28696899 [GRCh38]
Chr22:29092887 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.924_925delinsAA (p.Leu309Met) indel Familial cancer of breast [RCV000704813]|Hereditary cancer-predisposing syndrome [RCV001184090] Chr22:28699921..28699922 [GRCh38]
Chr22:29095909..29095910 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.118_119delinsCC (p.Ser40Pro) indel Familial cancer of breast [RCV000693526] Chr22:28734603..28734604 [GRCh38]
Chr22:29130591..29130592 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.400_401del (p.Thr133_Asp134insTer) deletion Familial cancer of breast [RCV000693565]|not provided [RCV003238183] Chr22:28725286..28725287 [GRCh38]
Chr22:29121274..29121275 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1457T>C (p.Leu486Pro) single nucleotide variant Familial cancer of breast [RCV000690865] Chr22:28694036 [GRCh38]
Chr22:29090024 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.161_164del (p.His54fs) deletion Familial cancer of breast [RCV000705355] Chr22:28734558..28734561 [GRCh38]
Chr22:29130546..29130549 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29083875)_(29115483_?)dup duplication Familial cancer of breast [RCV000708031] Chr22:28687887..28719495 [GRCh38]
Chr22:29083875..29115483 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.283C>G (p.Arg95Gly) single nucleotide variant Familial cancer of breast [RCV000696330]|Hereditary cancer-predisposing syndrome [RCV001016744] Chr22:28734439 [GRCh38]
Chr22:29130427 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.776G>C (p.Gly259Ala) single nucleotide variant Familial cancer of breast [RCV000699174] Chr22:28711925 [GRCh38]
Chr22:29107913 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+1_908+8delinsTT indel Familial cancer of breast [RCV005208595]|Hereditary cancer-predisposing syndrome [RCV002442412] Chr22:28703497..28703504 [GRCh38]
Chr22:29099485..29099492 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.319+3A>T single nucleotide variant Familial cancer of breast [RCV000697934] Chr22:28734400 [GRCh38]
Chr22:29130388 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28734393)_(28734731_?)del deletion Familial cancer of breast [RCV000708102] Chr22:28734393..28734731 [GRCh38]
Chr22:29130381..29130719 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.685G>C (p.Gly229Arg) single nucleotide variant Familial cancer of breast [RCV000696390]|Hereditary cancer-predisposing syndrome [RCV002360773] Chr22:28712016 [GRCh38]
Chr22:29108004 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1031T>C (p.Ile344Thr) single nucleotide variant Familial cancer of breast [RCV000696437]|Hereditary cancer-predisposing syndrome [RCV001009732] Chr22:28696965 [GRCh38]
Chr22:29092953 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.182G>A (p.Ser61Asn) single nucleotide variant Familial cancer of breast [RCV000699556]|Hereditary cancer-predisposing syndrome [RCV003303173] Chr22:28734540 [GRCh38]
Chr22:29130528 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.568G>A (p.Ala190Thr) single nucleotide variant Familial cancer of breast [RCV000698265]|Hereditary cancer-predisposing syndrome [RCV004609498] Chr22:28725001 [GRCh38]
Chr22:29120989 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala) single nucleotide variant Familial cancer of breast [RCV000691477]|not specified [RCV003317343] Chr22:28734549 [GRCh38]
Chr22:29130537 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28703495)_(28703576_?)del deletion Familial cancer of breast [RCV000708187] Chr22:28703495..28703576 [GRCh38]
Chr22:29099483..29099564 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29083879)_(29095931_?)dup duplication Familial cancer of breast [RCV000708219] Chr22:28687891..28699943 [GRCh38]
Chr22:29083879..29095931 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1313A>G (p.Asp438Gly) single nucleotide variant Familial cancer of breast [RCV000696560]|Hereditary cancer-predisposing syndrome [RCV001176908]|not provided [RCV002469266] Chr22:28695189 [GRCh38]
Chr22:29091177 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.660CAT[1] (p.Ile221del) microsatellite Familial cancer of breast [RCV000696657] Chr22:28719413..28719415 [GRCh38]
Chr22:29115401..29115403 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1108G>A (p.Gly370Arg) single nucleotide variant Familial cancer of breast [RCV000700322]|Hereditary cancer-predisposing syndrome [RCV002458281] Chr22:28695861 [GRCh38]
Chr22:29091849 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28724967)_(28725377_?)del deletion Familial cancer of breast [RCV000708346] Chr22:28724967..28725377 [GRCh38]
Chr22:29120955..29121365 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.383del (p.Pro128fs) deletion Familial cancer of breast [RCV000696835] Chr22:28725304 [GRCh38]
Chr22:29121292 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1616G>A (p.Cys539Tyr) single nucleotide variant Familial cancer of breast [RCV000686038]|Hereditary cancer-predisposing syndrome [RCV002397366] Chr22:28687913 [GRCh38]
Chr22:29083901 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.853A>G (p.Ile285Val) single nucleotide variant Familial cancer of breast [RCV000700813]|Hereditary cancer-predisposing syndrome [RCV001017971] Chr22:28703560 [GRCh38]
Chr22:29099548 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.127A>G (p.Thr43Ala) single nucleotide variant Familial cancer of breast [RCV000705971]|Hereditary cancer-predisposing syndrome [RCV001010716] Chr22:28734595 [GRCh38]
Chr22:29130583 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1616_1627dup (p.Val542_Leu543insCysAlaAlaVal) duplication Familial cancer of breast [RCV000686693]|Hereditary cancer-predisposing syndrome [RCV001191646] Chr22:28687901..28687902 [GRCh38]
Chr22:29083889..29083890 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.985del (p.Tyr329fs) deletion Familial cancer of breast [RCV000692012]|Hereditary cancer-predisposing syndrome [RCV002386197] Chr22:28699861 [GRCh38]
Chr22:29095849 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1439C>G (p.Ala480Gly) single nucleotide variant Familial cancer of breast [RCV000701346]|Hereditary cancer-predisposing syndrome [RCV002388312] Chr22:28694054 [GRCh38]
Chr22:29090042 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.893A>G (p.Tyr298Cys) single nucleotide variant Familial cancer of breast [RCV000689412]|Hereditary cancer-predisposing syndrome [RCV002369850] Chr22:28703520 [GRCh38]
Chr22:29099508 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1513T>G (p.Ser505Ala) single nucleotide variant Familial cancer of breast [RCV000692232]|Hereditary cancer-predisposing syndrome [RCV003352987] Chr22:28689164 [GRCh38]
Chr22:29085152 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1561C>G (p.Arg521Gly) single nucleotide variant Familial cancer of breast [RCV000706358] Chr22:28687968 [GRCh38]
Chr22:29083956 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.445-11C>T single nucleotide variant Familial cancer of breast [RCV002067275]|Hereditary cancer-predisposing syndrome [RCV000773806] Chr22:28725135 [GRCh38]
Chr22:29121123 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1588_1589insATGCCGCGGGGCCCAGGGTG (p.Ala530fs) insertion Hereditary cancer-predisposing syndrome [RCV004607833] Chr22:28687940..28687941 [GRCh38]
Chr22:29083928..29083929 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847-1del deletion Hereditary cancer-predisposing syndrome [RCV004607835] Chr22:28703567 [GRCh38]
Chr22:29099555 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1322C>T (p.Thr441Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607838]|not provided [RCV004759430] Chr22:28695180 [GRCh38]
Chr22:29091168 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.369_442dup (p.Arg148delinsIleAlaLeuMetAsnHisCysTer) duplication Hereditary cancer-predisposing syndrome [RCV004607847] Chr22:28725244..28725245 [GRCh38]
Chr22:29121232..29121233 [GRCh37]
Chr22:22q12.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs) deletion not provided [RCV001730208] Chr22:28734643..28734644 [GRCh38]
Chr22:29130631..29130632 [GRCh37]
Chr22:22q12.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_007194.4(CHEK2):c.1461+173dup duplication not provided [RCV001565277] Chr22:28693858..28693859 [GRCh38]
Chr22:29089846..29089847 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+4338C>T single nucleotide variant not provided [RCV001585264] Chr22:28730065 [GRCh38]
Chr22:29126053 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1095+169G>A single nucleotide variant not provided [RCV001666533] Chr22:28696732 [GRCh38]
Chr22:29092720 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.879T>C (p.Asp293=) single nucleotide variant Familial cancer of breast [RCV001424841] Chr22:28703534 [GRCh38]
Chr22:29099522 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.592+50A>T single nucleotide variant CHEK2-related disorder [RCV004536016]|Familial cancer of breast [RCV000990393]|not provided [RCV001357012]|not specified [RCV002465817] Chr22:28724927 [GRCh38]
Chr22:29120915 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.319+3980C>T single nucleotide variant Familial cancer of breast [RCV000990396] Chr22:28730423 [GRCh38]
Chr22:29126411 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.(?_28687897)_(28719495_?)dup duplication Familial cancer of breast [RCV001032017] Chr22:29083885..29115483 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687897)_(28725377_?)del deletion Familial cancer of breast [RCV001031271] Chr22:29083885..29121365 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28734393)_(28734725_?)del deletion Familial cancer of breast [RCV001031287] Chr22:29130381..29130713 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.819A>T (p.Glu273Asp) single nucleotide variant Familial cancer of breast [RCV001067618] Chr22:28710033 [GRCh38]
Chr22:29106021 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687897)_(28689225_?)dup duplication Familial cancer of breast [RCV001031026] Chr22:29083885..29085213 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-49_1095+51del deletion Familial cancer of breast [RCV001706780] Chr22:28696850..28699986 [GRCh38]
Chr22:29092838..29095974 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.844C>A (p.His282Asn) single nucleotide variant Familial cancer of breast [RCV001045996] Chr22:28710008 [GRCh38]
Chr22:29105996 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.792+250dup duplication not provided [RCV001586312] Chr22:28711658..28711659 [GRCh38]
Chr22:29107646..29107647 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.195A>G (p.Thr65=) single nucleotide variant not provided [RCV000928427] Chr22:28734527 [GRCh38]
Chr22:29130515 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.126T>A (p.Ser42=) single nucleotide variant Familial cancer of breast [RCV001498793]|Hereditary cancer-predisposing syndrome [RCV003307600]|not provided [RCV000865222] Chr22:28734596 [GRCh38]
Chr22:29130584 [GRCh37]
Chr22:22q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1032A>C (p.Ile344=) single nucleotide variant CHEK2-related disorder [RCV004533579]|Familial cancer of breast [RCV000929343]|Hereditary cancer-predisposing syndrome [RCV002390940] Chr22:28696964 [GRCh38]
Chr22:29092952 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.960A>G (p.Lys320=) single nucleotide variant Familial cancer of breast [RCV001504623]|Hereditary cancer-predisposing syndrome [RCV002382168] Chr22:28699886 [GRCh38]
Chr22:29095874 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.306A>G (p.Gly102=) single nucleotide variant Familial cancer of breast [RCV001478709]|Hereditary cancer-predisposing syndrome [RCV001018438] Chr22:28734416 [GRCh38]
Chr22:29130404 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.792+10A>G single nucleotide variant Familial cancer of breast [RCV001456516]|not provided [RCV000982046] Chr22:28711899 [GRCh38]
Chr22:29107887 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.822A>C (p.Ile274=) single nucleotide variant Familial cancer of breast [RCV001505914] Chr22:28710030 [GRCh38]
Chr22:29106018 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1161C>G (p.Thr387=) single nucleotide variant Familial cancer of breast [RCV001453384]|Hereditary cancer-predisposing syndrome [RCV001177992] Chr22:28695808 [GRCh38]
Chr22:29091796 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.846+4del deletion Familial cancer of breast [RCV001040514] Chr22:28710002 [GRCh38]
Chr22:29105990 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1315C>A (p.Gln439Lys) single nucleotide variant Familial cancer of breast [RCV001057992]|Hereditary cancer-predisposing syndrome [RCV003160468] Chr22:28695187 [GRCh38]
Chr22:29091175 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.635A>G (p.Tyr212Cys) single nucleotide variant Familial cancer of breast [RCV001057994] Chr22:28719443 [GRCh38]
Chr22:29115431 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1096-7A>G single nucleotide variant Familial cancer of breast [RCV001036808] Chr22:28695880 [GRCh38]
Chr22:29091868 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.705G>C (p.Lys235Asn) single nucleotide variant Familial cancer of breast [RCV001058205] Chr22:28711996 [GRCh38]
Chr22:29107984 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.452del (p.Gly151fs) deletion Familial cancer of breast [RCV001041222] Chr22:28725117 [GRCh38]
Chr22:29121105 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.815C>T (p.Thr272Ile) single nucleotide variant Familial cancer of breast [RCV001041329]|Hereditary cancer-predisposing syndrome [RCV001177798] Chr22:28710037 [GRCh38]
Chr22:29106025 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319G>A (p.Glu107Lys) single nucleotide variant Familial cancer of breast [RCV001062326]|Hereditary cancer-predisposing syndrome [RCV002320320]|not specified [RCV004596404] Chr22:28734403 [GRCh38]
Chr22:29130391 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.752T>C (p.Ile251Thr) single nucleotide variant Familial cancer of breast [RCV001053085]|not provided [RCV001759989] Chr22:28711949 [GRCh38]
Chr22:29107937 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.703A>G (p.Lys235Glu) single nucleotide variant Familial cancer of breast [RCV001042055]|not specified [RCV005232077] Chr22:28711998 [GRCh38]
Chr22:29107986 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter) single nucleotide variant Familial cancer of breast [RCV001051488] Chr22:28695739 [GRCh38]
Chr22:29091727 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1363G>T (p.Val455Phe) single nucleotide variant Familial cancer of breast [RCV001051763] Chr22:28695139 [GRCh38]
Chr22:29091127 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1008+1G>C single nucleotide variant Familial cancer of breast [RCV001037898] Chr22:28699837 [GRCh38]
Chr22:29095825 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1481del (p.Lys494fs) deletion Familial cancer of breast [RCV001038430]|not provided [RCV003493785] Chr22:28689196 [GRCh38]
Chr22:29085184 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.429C>A (p.His143Gln) single nucleotide variant Familial cancer of breast [RCV001053589]|Hereditary cancer-predisposing syndrome [RCV002327313] Chr22:28725258 [GRCh38]
Chr22:29121246 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28694022)_(28703576_?)dup duplication Familial cancer of breast [RCV001033721] Chr22:29090010..29099564 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.743T>G (p.Ile248Arg) single nucleotide variant Familial cancer of breast [RCV001051177] Chr22:28711958 [GRCh38]
Chr22:29107946 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.809T>G (p.Val270Gly) single nucleotide variant Familial cancer of breast [RCV001068580] Chr22:28710043 [GRCh38]
Chr22:29106031 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1210T>C (p.Tyr404His) single nucleotide variant Familial cancer of breast [RCV001035962] Chr22:28695759 [GRCh38]
Chr22:29091747 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.664A>C (p.Met222Leu) single nucleotide variant Familial cancer of breast [RCV001037596] Chr22:28719414 [GRCh38]
Chr22:29115402 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687897)_(28696997_?)del deletion Familial cancer of breast [RCV001032788] Chr22:29083885..29092985 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1561del (p.Arg521fs) deletion Familial cancer of breast [RCV001060037] Chr22:28687968 [GRCh38]
Chr22:29083956 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+4G>C single nucleotide variant Familial cancer of breast [RCV001060548]|Hereditary cancer-predisposing syndrome [RCV003353137] Chr22:28694028 [GRCh38]
Chr22:29090016 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.402_407del (p.Lys135_Tyr136del) deletion Familial cancer of breast [RCV001070678] Chr22:28725280..28725285 [GRCh38]
Chr22:29121268..29121273 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1334A>G (p.Tyr445Cys) single nucleotide variant Familial cancer of breast [RCV001060876]|Hereditary cancer-predisposing syndrome [RCV003353138] Chr22:28695168 [GRCh38]
Chr22:29091156 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28694022)_(28694127_?)del deletion Familial cancer of breast [RCV000823969] Chr22:28694022..28694127 [GRCh38]
Chr22:29090010..29090115 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1259+16A>G single nucleotide variant Familial cancer of breast [RCV005092311]|Hereditary cancer-predisposing syndrome [RCV000777667] Chr22:28695694 [GRCh38]
Chr22:29091682 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1009-7T>G single nucleotide variant Familial cancer of breast [RCV000938891]|Hereditary cancer-predisposing syndrome [RCV000777669]|not provided [RCV003480810]|not specified [RCV003320480] Chr22:28696994 [GRCh38]
Chr22:29092982 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1114T>A (p.Ser372Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002440615]|not specified [RCV000780177] Chr22:28695855 [GRCh38]
Chr22:29091843 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro) single nucleotide variant Familial cancer of breast [RCV001309145]|Hereditary cancer-predisposing syndrome [RCV004027314]|not specified [RCV000780182] Chr22:28710013 [GRCh38]
Chr22:29106001 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.189A>G (p.Leu63=) single nucleotide variant Familial cancer of breast [RCV000938452]|Hereditary cancer-predisposing syndrome [RCV000771776] Chr22:28734533 [GRCh38]
Chr22:29130521 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.985T>A (p.Tyr329Asn) single nucleotide variant Familial cancer of breast [RCV005092233]|Hereditary cancer-predisposing syndrome [RCV000772456] Chr22:28699861 [GRCh38]
Chr22:29095849 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.505T>G (p.Phe169Val) single nucleotide variant Familial cancer of breast [RCV002536631]|Hereditary cancer-predisposing syndrome [RCV000772466]|Hereditary nonpolyposis colon cancer [RCV005367540] Chr22:28725064 [GRCh38]
Chr22:29121052 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.942G>T (p.Val314=) single nucleotide variant Familial cancer of breast [RCV005249041]|Hereditary cancer-predisposing syndrome [RCV000772539] Chr22:28699904 [GRCh38]
Chr22:29095892 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.252_254delinsGCT (p.Pro85Leu) indel Hereditary cancer-predisposing syndrome [RCV000772624] Chr22:28734468..28734470 [GRCh38]
Chr22:29130456..29130458 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1450C>T (p.Pro484Ser) single nucleotide variant Familial cancer of breast [RCV003607347]|Hereditary cancer-predisposing syndrome [RCV000772840] Chr22:28694043 [GRCh38]
Chr22:29090031 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1602G>A (p.Lys534=) single nucleotide variant Familial cancer of breast [RCV001494026]|Hereditary cancer-predisposing syndrome [RCV000773076] Chr22:28687927 [GRCh38]
Chr22:29083915 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1597A>T (p.Thr533Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV005358004]|Hereditary cancer-predisposing syndrome [RCV000773418] Chr22:28687932 [GRCh38]
Chr22:29083920 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.407A>G (p.Tyr136Cys) single nucleotide variant Familial cancer of breast [RCV001856053]|Hereditary cancer-predisposing syndrome [RCV000773515] Chr22:28725280 [GRCh38]
Chr22:29121268 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1199G>T (p.Gly400Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773546] Chr22:28695770 [GRCh38]
Chr22:29091758 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.463T>G (p.Ser155Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773789] Chr22:28725106 [GRCh38]
Chr22:29121094 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.948T>A (p.Asn316Lys) single nucleotide variant Familial cancer of breast [RCV001322772]|Hereditary cancer-predisposing syndrome [RCV000774044] Chr22:28699898 [GRCh38]
Chr22:29095886 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1543-10T>C single nucleotide variant Familial cancer of breast [RCV001394120]|Hereditary cancer-predisposing syndrome [RCV000771656] Chr22:28687996 [GRCh38]
Chr22:29083984 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.684-3del deletion not provided [RCV000759046] Chr22:28712020 [GRCh38]
Chr22:29108008 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.443G>C (p.Arg148Thr) single nucleotide variant Familial cancer of breast [RCV000791698]|Hereditary cancer-predisposing syndrome [RCV001805855] Chr22:28725244 [GRCh38]
Chr22:29121232 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) insertion Familial cancer of breast [RCV000781304]|Hereditary cancer-predisposing syndrome [RCV003584743] Chr22:28695222..28695223 [GRCh38]
Chr22:29091210..29091211 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.320-16T>C single nucleotide variant Familial cancer of breast [RCV002067239]|Hereditary cancer-predisposing syndrome [RCV000771775] Chr22:28725383 [GRCh38]
Chr22:29121371 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1375+17del deletion Familial cancer of breast [RCV001855738]|Hereditary cancer-predisposing syndrome [RCV000772195] Chr22:28695110 [GRCh38]
Chr22:29091098 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.445-1G>A single nucleotide variant Familial cancer of breast [RCV001856010]|Hereditary cancer-predisposing syndrome [RCV000772223] Chr22:28725125 [GRCh38]
Chr22:29121113 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1260-15T>G single nucleotide variant Familial cancer of breast [RCV002536627]|Hereditary cancer-predisposing syndrome [RCV000772370] Chr22:28695257 [GRCh38]
Chr22:29091245 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.746A>T (p.Lys249Met) single nucleotide variant Familial cancer of breast [RCV000792293] Chr22:28711955 [GRCh38]
Chr22:29107943 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.503C>A (p.Thr168Asn) single nucleotide variant CHEK2-related cancer predisposition [RCV005367580]|Familial cancer of breast [RCV000808794] Chr22:28725066 [GRCh38]
Chr22:29121054 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.303T>A (p.Asp101Glu) single nucleotide variant Familial cancer of breast [RCV002535548]|Hereditary cancer-predisposing syndrome [RCV000775696] Chr22:28734419 [GRCh38]
Chr22:29130407 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1478G>C (p.Arg493Thr) single nucleotide variant Familial cancer of breast [RCV001337775]|Hereditary cancer-predisposing syndrome [RCV000776747] Chr22:28689199 [GRCh38]
Chr22:29085187 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1543C>A (p.Pro515Thr) single nucleotide variant Familial cancer of breast [RCV001856133]|Hereditary cancer-predisposing syndrome [RCV000776765] Chr22:28687986 [GRCh38]
Chr22:29083974 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.633T>C (p.Val211=) single nucleotide variant Familial cancer of breast [RCV001417202]|Hereditary cancer-predisposing syndrome [RCV000776944]|Hereditary nonpolyposis colon cancer [RCV005358019] Chr22:28719445 [GRCh38]
Chr22:29115433 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.684-7C>T single nucleotide variant Familial cancer of breast [RCV001417518]|Hereditary cancer-predisposing syndrome [RCV000777674]|not provided [RCV003478480] Chr22:28712024 [GRCh38]
Chr22:29108012 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.214T>C (p.Tyr72His) single nucleotide variant Familial cancer of breast [RCV005056536]|Hereditary cancer-predisposing syndrome [RCV000777117] Chr22:28734508 [GRCh38]
Chr22:29130496 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.131G>C (p.Ser44Thr) single nucleotide variant Familial cancer of breast [RCV001856146]|Hereditary cancer-predisposing syndrome [RCV000777470] Chr22:28734591 [GRCh38]
Chr22:29130579 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1250T>C (p.Leu417Pro) single nucleotide variant Familial cancer of breast [RCV003607358]|Hereditary cancer-predisposing syndrome [RCV000777537] Chr22:28695719 [GRCh38]
Chr22:29091707 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.642G>A (p.Lys214=) single nucleotide variant Familial cancer of breast [RCV003768338]|Hereditary cancer-predisposing syndrome [RCV000773044] Chr22:28719436 [GRCh38]
Chr22:29115424 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.690C>G (p.Ala230=) single nucleotide variant Familial cancer of breast [RCV001456656]|Hereditary cancer-predisposing syndrome [RCV000773602] Chr22:28712011 [GRCh38]
Chr22:29107999 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.638C>T (p.Pro213Leu) single nucleotide variant Familial cancer of breast [RCV001204829]|Hereditary cancer-predisposing syndrome [RCV000773973] Chr22:28719440 [GRCh38]
Chr22:29115428 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1523T>C (p.Leu508Pro) single nucleotide variant Familial cancer of breast [RCV002534146]|Hereditary cancer-predisposing syndrome [RCV000774502]|not provided [RCV001775993] Chr22:28689154 [GRCh38]
Chr22:29085142 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.305G>C (p.Gly102Ala) single nucleotide variant Familial cancer of breast [RCV000809227]|Hereditary cancer-predisposing syndrome [RCV002442709] Chr22:28734417 [GRCh38]
Chr22:29130405 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1282T>C (p.Ser428Pro) single nucleotide variant CHEK2-related cancer predisposition [RCV005029490]|Familial cancer of breast [RCV000809243]|Hereditary cancer-predisposing syndrome [RCV002370168] Chr22:28695220 [GRCh38]
Chr22:29091208 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.725C>T (p.Thr242Ile) single nucleotide variant Familial cancer of breast [RCV001068002]|Hereditary cancer-predisposing syndrome [RCV000777672]|not provided [RCV003225119] Chr22:28711976 [GRCh38]
Chr22:29107964 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.181A>G (p.Ser61Gly) single nucleotide variant Familial cancer of breast [RCV001348861]|Hereditary cancer-predisposing syndrome [RCV000777679]|not provided [RCV003478481] Chr22:28734541 [GRCh38]
Chr22:29130529 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.67G>A (p.Gly23Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777880] Chr22:28734655 [GRCh38]
Chr22:29130643 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.682A>T (p.Ser228Cys) single nucleotide variant CHEK2-related cancer predisposition [RCV005029427]|Familial cancer of breast [RCV000796811]|Hereditary cancer-predisposing syndrome [RCV000776734] Chr22:28719396 [GRCh38]
Chr22:29115384 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.156C>G (p.Ser52=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777326] Chr22:28734566 [GRCh38]
Chr22:29130554 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1255A>G (p.Ile419Val) single nucleotide variant Familial cancer of breast [RCV003607357]|Hereditary cancer-predisposing syndrome [RCV000777536] Chr22:28695714 [GRCh38]
Chr22:29091702 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+19G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773359] Chr22:28724958 [GRCh38]
Chr22:29120946 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.593-18T>C single nucleotide variant Familial cancer of breast [RCV002061076]|Hereditary cancer-predisposing syndrome [RCV000773366] Chr22:28719503 [GRCh38]
Chr22:29115491 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.593-1G>C single nucleotide variant Familial cancer of breast [RCV000813820]|Hereditary cancer-predisposing syndrome [RCV001024696] Chr22:28719486 [GRCh38]
Chr22:29115474 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.839T>A (p.Leu280Gln) single nucleotide variant Familial cancer of breast [RCV000806053]|Hereditary cancer-predisposing syndrome [RCV005401619] Chr22:28710013 [GRCh38]
Chr22:29106001 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687887)_(28710069_?)del deletion Familial cancer of breast [RCV000815269] Chr22:28687887..28710069 [GRCh38]
Chr22:29083875..29106057 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28709996)_(28710069_?)del deletion Familial cancer of breast [RCV000816633] Chr22:28709996..28710069 [GRCh38]
Chr22:29105984..29106057 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.444+3A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000776834] Chr22:28725240 [GRCh38]
Chr22:29121228 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1293G>A (p.Arg431=) single nucleotide variant Familial cancer of breast [RCV000925078]|Hereditary cancer-predisposing syndrome [RCV002382095] Chr22:28695209 [GRCh38]
Chr22:29091197 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.396A>G (p.Arg132=) single nucleotide variant Familial cancer of breast [RCV001392732] Chr22:28725291 [GRCh38]
Chr22:29121279 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1462-5C>G single nucleotide variant Familial cancer of breast [RCV001491065]|Hereditary cancer-predisposing syndrome [RCV003353102] Chr22:28689220 [GRCh38]
Chr22:29085208 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.846+8T>G single nucleotide variant Familial cancer of breast [RCV000938960] Chr22:28709998 [GRCh38]
Chr22:29105986 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1462-5C>T single nucleotide variant Familial cancer of breast [RCV001422112]|Hereditary cancer-predisposing syndrome [RCV003363034] Chr22:28689220 [GRCh38]
Chr22:29085208 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.828T>C (p.Ile276=) single nucleotide variant Familial cancer of breast [RCV001488123] Chr22:28710024 [GRCh38]
Chr22:29106012 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.981T>C (p.Tyr327=) single nucleotide variant Breast and/or ovarian cancer [RCV001798999]|Familial cancer of breast [RCV001396570]|Hereditary cancer-predisposing syndrome [RCV002372445] Chr22:28699865 [GRCh38]
Chr22:29095853 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter) single nucleotide variant Familial cancer of breast [RCV001855914]|Hereditary cancer-predisposing syndrome [RCV004027167]|not provided [RCV000759045] Chr22:28719453 [GRCh38]
Chr22:29115441 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1002T>C (p.Ala334=) single nucleotide variant Familial cancer of breast [RCV001468526]|Hereditary cancer-predisposing syndrome [RCV002391039] Chr22:28699844 [GRCh38]
Chr22:29095832 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1080G>A (p.Glu360=) single nucleotide variant Familial cancer of breast [RCV001445383]|Hereditary cancer-predisposing syndrome [RCV002416170] Chr22:28696916 [GRCh38]
Chr22:29092904 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1170C>T (p.Tyr390=) single nucleotide variant Familial cancer of breast [RCV001477812]|Hereditary cancer-predisposing syndrome [RCV002332906] Chr22:28695799 [GRCh38]
Chr22:29091787 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1545T>G (p.Pro515=) single nucleotide variant Familial cancer of breast [RCV001481919]|Hereditary cancer-predisposing syndrome [RCV003169426] Chr22:28687984 [GRCh38]
Chr22:29083972 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val) single nucleotide variant CHEK2-related cancer predisposition [RCV005036292]|Familial cancer of breast [RCV001873314]|Hereditary cancer-predisposing syndrome [RCV001018963] Chr22:28699929 [GRCh38]
Chr22:29095917 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.683+15T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777426] Chr22:28719380 [GRCh38]
Chr22:29115368 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.320-1G>T single nucleotide variant Familial cancer of breast [RCV002535623]|Hereditary breast ovarian cancer syndrome [RCV003479217]|Hereditary cancer-predisposing syndrome [RCV000777567]|Malignant tumor of breast [RCV001355188] Chr22:28725368 [GRCh38]
Chr22:29121356 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.619GAT[1] (p.Asp208del) microsatellite Familial cancer of breast [RCV003607352]|Hereditary cancer-predisposing syndrome [RCV000776216] Chr22:28719454..28719456 [GRCh38]
Chr22:29115442..29115444 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.104C>A (p.Ser35Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773080] Chr22:28734618 [GRCh38]
Chr22:29130606 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1530G>C (p.Gln510His) single nucleotide variant Familial cancer of breast [RCV001236259]|Hereditary cancer-predisposing syndrome [RCV000773172]|Malignant tumor of breast [RCV001356114] Chr22:28689147 [GRCh38]
Chr22:29085135 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1259G>C (p.Cys420Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000773571] Chr22:28695710 [GRCh38]
Chr22:29091698 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.104C>T (p.Ser35Phe) single nucleotide variant Familial cancer of breast [RCV001321885]|Hereditary cancer-predisposing syndrome [RCV000774032] Chr22:28734618 [GRCh38]
Chr22:29130606 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg) single nucleotide variant Familial cancer of breast [RCV001856194]|Hereditary cancer-predisposing syndrome [RCV001011146]|not specified [RCV000781299] Chr22:28695148 [GRCh38]
Chr22:29091136 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1543-3C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV000777666] Chr22:28687989 [GRCh38]
Chr22:29083977 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1009-16C>A single nucleotide variant Familial cancer of breast [RCV002535628]|Hereditary cancer-predisposing syndrome [RCV000777670] Chr22:28697003 [GRCh38]
Chr22:29092991 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.708G>C (p.Leu236=) single nucleotide variant Familial cancer of breast [RCV001479623]|Hereditary cancer-predisposing syndrome [RCV001026024] Chr22:28711993 [GRCh38]
Chr22:29107981 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.438T>C (p.Ile146=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002332731]|not provided [RCV000827265] Chr22:28725249 [GRCh38]
Chr22:29121237 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.483A>C (p.Glu161Asp) single nucleotide variant Familial cancer of breast [RCV000820839]|Hereditary cancer-predisposing syndrome [RCV002332704] Chr22:28725086 [GRCh38]
Chr22:29121074 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+345G>A single nucleotide variant not provided [RCV000839395] Chr22:28693687 [GRCh38]
Chr22:29089675 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.40G>A (p.Gly14Ser) single nucleotide variant Familial cancer of breast [RCV000810195] Chr22:28734682 [GRCh38]
Chr22:29130670 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.419G>A (p.Ser140Asn) single nucleotide variant Familial cancer of breast [RCV000813061]|Hereditary cancer-predisposing syndrome [RCV001022030]|not provided [RCV001531541] Chr22:28725268 [GRCh38]
Chr22:29121256 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.607G>A (p.Asp203Asn) single nucleotide variant Familial cancer of breast [RCV000820980]|Hereditary cancer-predisposing syndrome [RCV002352454] Chr22:28719471 [GRCh38]
Chr22:29115459 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-7+286A>T single nucleotide variant not provided [RCV000839497] Chr22:28741483 [GRCh38]
Chr22:29137471 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.924G>A (p.Glu308=) single nucleotide variant Familial cancer of breast [RCV005093178]|Hereditary cancer-predisposing syndrome [RCV001019070] Chr22:28699922 [GRCh38]
Chr22:29095910 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.319+3A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019081] Chr22:28734400 [GRCh38]
Chr22:29130388 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_007194.4(CHEK2):c.460A>T (p.Asn154Tyr) single nucleotide variant Familial cancer of breast [RCV000810053] Chr22:28725109 [GRCh38]
Chr22:29121097 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1241G>A (p.Gly414Glu) single nucleotide variant Familial cancer of breast [RCV000799388]|Hereditary cancer-predisposing syndrome [RCV001010503] Chr22:28695728 [GRCh38]
Chr22:29091716 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer) deletion Familial cancer of breast [RCV000823211]|Hereditary cancer-predisposing syndrome [RCV002352469] Chr22:28719472..28719473 [GRCh38]
Chr22:29115460..29115461 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28687887)_(28696997_?)del deletion Familial cancer of breast [RCV000819221] Chr22:28687887..28696997 [GRCh38]
Chr22:29083875..29092985 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1256T>C (p.Ile419Thr) single nucleotide variant Familial cancer of breast [RCV000814378]|Hereditary cancer-predisposing syndrome [RCV004949978]|not provided [RCV001776029] Chr22:28695713 [GRCh38]
Chr22:29091701 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1096A>G (p.Ile366Val) single nucleotide variant Familial cancer of breast [RCV000798277]|Hereditary cancer-predisposing syndrome [RCV002442644]|not provided [RCV004997336] Chr22:28695873 [GRCh38]
Chr22:29091861 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1205C>T (p.Ala402Val) single nucleotide variant CHEK2-related cancer predisposition [RCV005359539]|Familial cancer of breast [RCV000797030]|Hereditary cancer-predisposing syndrome [RCV001525051] Chr22:28695764 [GRCh38]
Chr22:29091752 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.449T>C (p.Val150Ala) single nucleotide variant Familial cancer of breast [RCV000799515]|Hereditary cancer-predisposing syndrome [RCV004027999] Chr22:28725120 [GRCh38]
Chr22:29121108 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1156G>A (p.Gly386Arg) single nucleotide variant Familial cancer of breast [RCV000804843]|Hereditary cancer-predisposing syndrome [RCV002352377]|not provided [RCV004721619] Chr22:28695813 [GRCh38]
Chr22:29091801 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.685G>T (p.Gly229Cys) single nucleotide variant Familial cancer of breast [RCV000823691] Chr22:28712016 [GRCh38]
Chr22:29108004 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.593T>C (p.Val198Ala) single nucleotide variant Familial cancer of breast [RCV000823763] Chr22:28719485 [GRCh38]
Chr22:29115473 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1542+10T>C single nucleotide variant Familial cancer of breast [RCV001505436] Chr22:28689125 [GRCh38]
Chr22:29085113 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.420C>T (p.Ser140=) single nucleotide variant Familial cancer of breast [RCV000801334] Chr22:28725267 [GRCh38]
Chr22:29121255 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.749TCA[1] (p.Ile251del) microsatellite Familial cancer of breast [RCV000819549]|Familial cancer of breast [RCV002501133]|Hereditary cancer-predisposing syndrome [RCV004029011] Chr22:28711947..28711949 [GRCh38]
Chr22:29107935..29107937 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) single nucleotide variant CHEK2-related cancer predisposition [RCV005036219]|Familial cancer of breast [RCV000821423]|Hereditary cancer-predisposing syndrome [RCV002442757] Chr22:28734691 [GRCh38]
Chr22:29130679 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1527C>T (p.Pro509=) single nucleotide variant Familial cancer of breast [RCV001444174]|Hereditary cancer-predisposing syndrome [RCV004029208]|not provided [RCV000829060] Chr22:28689150 [GRCh38]
Chr22:29085138 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu) single nucleotide variant Familial cancer of breast [RCV002535842]|NK-cell enteropathy [RCV000791309] Chr22:28694072 [GRCh38]
Chr22:29090060 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1481A>G (p.Lys494Arg) single nucleotide variant Familial cancer of breast [RCV000806381] Chr22:28689196 [GRCh38]
Chr22:29085184 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.961G>A (p.Glu321Lys) single nucleotide variant Familial cancer of breast [RCV000799895]|Hereditary cancer-predisposing syndrome [RCV002370111] Chr22:28699885 [GRCh38]
Chr22:29095873 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr) single nucleotide variant Familial cancer of breast [RCV000805029]|Hereditary cancer-predisposing syndrome [RCV002381768]|not specified [RCV001193086] Chr22:28695214 [GRCh38]
Chr22:29091202 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1246A>T (p.Ile416Phe) single nucleotide variant Familial cancer of breast [RCV000824035] Chr22:28695723 [GRCh38]
Chr22:29091711 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095+5G>C single nucleotide variant Familial cancer of breast [RCV000798931] Chr22:28696896 [GRCh38]
Chr22:29092884 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28699828)_(28699947_?)del deletion Familial cancer of breast [RCV000800661] Chr22:28699828..28699947 [GRCh38]
Chr22:29095816..29095935 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1095+3A>T single nucleotide variant Familial cancer of breast [RCV000823419] Chr22:28696898 [GRCh38]
Chr22:29092886 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.191A>G (p.Glu64Gly) single nucleotide variant Familial cancer of breast [RCV000816408] Chr22:28734531 [GRCh38]
Chr22:29130519 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1460A>G (p.Gln487Arg) single nucleotide variant Familial cancer of breast [RCV000819815]|not provided [RCV002282381] Chr22:28694033 [GRCh38]
Chr22:29090021 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q12.1(chr22:29092889-29096019)x1 copy number loss not provided [RCV000997962] Chr22:29092889..29096019 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1127G>A (p.Gly376Glu) single nucleotide variant Familial cancer of breast [RCV000798262] Chr22:28695842 [GRCh38]
Chr22:29091830 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1477A>G (p.Arg493Gly) single nucleotide variant Familial cancer of breast [RCV000801773] Chr22:28689200 [GRCh38]
Chr22:29085188 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.78_85del (p.Gln27fs) deletion Familial cancer of breast [RCV000803491] Chr22:28734637..28734644 [GRCh38]
Chr22:29130625..29130632 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.793-1G>T single nucleotide variant Familial cancer of breast [RCV003467536]|Hereditary cancer-predisposing syndrome [RCV001026971]|not provided [RCV000985704] Chr22:28710060 [GRCh38]
Chr22:29106048 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1347del (p.Glu450fs) deletion Familial cancer of breast [RCV000800708] Chr22:28695155 [GRCh38]
Chr22:29091143 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1009-6G>A single nucleotide variant Familial cancer of breast [RCV001413134]|Malignant tumor of breast [RCV001356645] Chr22:28696993 [GRCh38]
Chr22:29092981 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NC_000022.10:g.(?_29095816)_(29095935_?)dup duplication Familial cancer of breast [RCV000803915] Chr22:28699828..28699947 [GRCh38]
Chr22:29095816..29095935 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1471A>C (p.Met491Leu) single nucleotide variant Familial cancer of breast [RCV000795159]|Hereditary cancer-predisposing syndrome [RCV003166127] Chr22:28689206 [GRCh38]
Chr22:29085194 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1259G>T (p.Cys420Phe) single nucleotide variant Familial cancer of breast [RCV000805588] Chr22:28695710 [GRCh38]
Chr22:29091698 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461G>C (p.Gln487His) single nucleotide variant Familial cancer of breast [RCV000805589]|Hereditary cancer-predisposing syndrome [RCV002388516] Chr22:28694032 [GRCh38]
Chr22:29090020 [GRCh37]
Chr22:22q12.1		 pathogenic|uncertain significance
NM_007194.4(CHEK2):c.444+3A>C single nucleotide variant Familial cancer of breast [RCV000808577] Chr22:28725240 [GRCh38]
Chr22:29121228 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+2del deletion Familial cancer of breast [RCV000809809] Chr22:28694030 [GRCh38]
Chr22:29090018 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.515C>T (p.Thr172Ile) single nucleotide variant Familial cancer of breast [RCV000805663]|Hereditary cancer-predisposing syndrome [RCV001023637] Chr22:28725054 [GRCh38]
Chr22:29121042 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1335_1336delinsAC (p.Tyr445_Asn446delinsTer) indel Familial cancer of breast [RCV000805749] Chr22:28695166..28695167 [GRCh38]
Chr22:29091154..29091155 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.941del (p.Val314fs) deletion Familial cancer of breast [RCV000990388] Chr22:28699905 [GRCh38]
Chr22:29095893 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.444+9T>C single nucleotide variant Familial cancer of breast [RCV000990395] Chr22:28725234 [GRCh38]
Chr22:29121222 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+3851G>T single nucleotide variant Familial cancer of breast [RCV000990397] Chr22:28730552 [GRCh38]
Chr22:29126540 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.28741832T>A single nucleotide variant Familial cancer of breast [RCV000990402] Chr22:28741832 [GRCh38]
Chr22:29137820 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1049del (p.Pro350fs) deletion Familial cancer of breast [RCV000806057] Chr22:28696947 [GRCh38]
Chr22:29092935 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1096A>T (p.Ile366Phe) single nucleotide variant Familial cancer of breast [RCV000799019]|Hereditary cancer-predisposing syndrome [RCV002424840] Chr22:28695873 [GRCh38]
Chr22:29091861 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.485A>T (p.Asp162Val) single nucleotide variant Familial cancer of breast [RCV000799067]|Hereditary cancer-predisposing syndrome [RCV002334508] Chr22:28725084 [GRCh38]
Chr22:29121072 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095+163G>A single nucleotide variant not provided [RCV000837117] Chr22:28696738 [GRCh38]
Chr22:29092726 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1104T>A (p.Asp368Glu) single nucleotide variant Familial cancer of breast [RCV000820509] Chr22:28695865 [GRCh38]
Chr22:29091853 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.572T>C (p.Leu191Pro) single nucleotide variant Familial cancer of breast [RCV000804144]|Hereditary cancer-predisposing syndrome [RCV001024463] Chr22:28724997 [GRCh38]
Chr22:29120985 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1148C>T (p.Thr383Ile) single nucleotide variant Familial cancer of breast [RCV000805781]|Hereditary cancer-predisposing syndrome [RCV001017471] Chr22:28695821 [GRCh38]
Chr22:29091809 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter) single nucleotide variant Familial cancer of breast [RCV000805833]|Hereditary cancer-predisposing syndrome [RCV002381773] Chr22:28695147 [GRCh38]
Chr22:29091135 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.37C>A (p.His13Asn) single nucleotide variant Familial cancer of breast [RCV000792567]|Hereditary cancer-predisposing syndrome [RCV002352310] Chr22:28734685 [GRCh38]
Chr22:29130673 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.581G>A (p.Ser194Asn) single nucleotide variant Familial cancer of breast [RCV000813301] Chr22:28724988 [GRCh38]
Chr22:29120976 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.692G>T (p.Cys231Phe) single nucleotide variant Familial cancer of breast [RCV000796967]|Hereditary cancer-predisposing syndrome [RCV002360931] Chr22:28712009 [GRCh38]
Chr22:29107997 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.449del (p.Val150fs) deletion Familial cancer of breast [RCV000812025]|Hereditary cancer-predisposing syndrome [RCV001022581] Chr22:28725120 [GRCh38]
Chr22:29121108 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.252del (p.Glu84fs) deletion Familial cancer of breast [RCV000816534] Chr22:28734470 [GRCh38]
Chr22:29130458 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.310G>C (p.Ala104Pro) single nucleotide variant Familial cancer of breast [RCV000819526]|Hereditary cancer-predisposing syndrome [RCV004029009]|not provided [RCV004761822] Chr22:28734412 [GRCh38]
Chr22:29130400 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.623A>T (p.Asp208Val) single nucleotide variant Familial cancer of breast [RCV000799190] Chr22:28719455 [GRCh38]
Chr22:29115443 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1260-24_1263del deletion Familial cancer of breast [RCV000816723] Chr22:28695239..28695266 [GRCh38]
Chr22:29091227..29091254 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.428A>T (p.His143Leu) single nucleotide variant Familial cancer of breast [RCV000815964] Chr22:28725259 [GRCh38]
Chr22:29121247 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.208G>A (p.Glu70Lys) single nucleotide variant Familial cancer of breast [RCV000796215]|Hereditary cancer-predisposing syndrome [RCV003166133] Chr22:28734514 [GRCh38]
Chr22:29130502 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095G>A (p.Lys365=) single nucleotide variant Familial cancer of breast [RCV000799651] Chr22:28696901 [GRCh38]
Chr22:29092889 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1036C>A (p.Arg346Ser) single nucleotide variant Familial cancer of breast [RCV000799658]|Hereditary cancer-predisposing syndrome [RCV002388468] Chr22:28696960 [GRCh38]
Chr22:29092948 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.258G>T (p.Glu86Asp) single nucleotide variant Familial cancer of breast [RCV000820033]|Hereditary cancer-predisposing syndrome [RCV002427047] Chr22:28734464 [GRCh38]
Chr22:29130452 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1003G>T (p.Val335Leu) single nucleotide variant Familial cancer of breast [RCV000813005]|Hereditary cancer-predisposing syndrome [RCV002397681] Chr22:28699843 [GRCh38]
Chr22:29095831 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1056T>A (p.Asn352Lys) single nucleotide variant Familial cancer of breast [RCV000813125]|Hereditary cancer-predisposing syndrome [RCV001017158] Chr22:28696940 [GRCh38]
Chr22:29092928 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.539G>C (p.Arg180Pro) single nucleotide variant Familial cancer of breast [RCV000803950] Chr22:28725030 [GRCh38]
Chr22:29121018 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.204T>C (p.Thr68=) single nucleotide variant Familial cancer of breast [RCV002067540]|Hereditary cancer-predisposing syndrome [RCV001014200]|not provided [RCV000841695] Chr22:28734518 [GRCh38]
Chr22:29130506 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1280T>C (p.Phe427Ser) single nucleotide variant Familial cancer of breast [RCV000813653] Chr22:28695222 [GRCh38]
Chr22:29091210 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.950A>G (p.Lys317Arg) single nucleotide variant Familial cancer of breast [RCV000797315]|Hereditary cancer-predisposing syndrome [RCV004027590] Chr22:28699896 [GRCh38]
Chr22:29095884 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.145T>C (p.Ser49Pro) single nucleotide variant Familial cancer of breast [RCV000807541]|Hereditary cancer-predisposing syndrome [RCV004028618] Chr22:28734577 [GRCh38]
Chr22:29130565 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319+3774C>T single nucleotide variant not provided [RCV000839447] Chr22:28730629 [GRCh38]
Chr22:29126617 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1095G>T (p.Lys365Asn) single nucleotide variant Familial cancer of breast [RCV000801421]|Hereditary cancer-predisposing syndrome [RCV002458465] Chr22:28696901 [GRCh38]
Chr22:29092889 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.403A>G (p.Lys135Glu) single nucleotide variant Familial cancer of breast [RCV000814201] Chr22:28725284 [GRCh38]
Chr22:29121272 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1096-6T>G single nucleotide variant Familial cancer of breast [RCV000801658]|Familial cancer of breast [RCV002495075]|Hereditary cancer-predisposing syndrome [RCV003584753]|not provided [RCV004696999] Chr22:28695879 [GRCh38]
Chr22:29091867 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.990del (p.Met331fs) deletion Familial cancer of breast [RCV000823638] Chr22:28699856 [GRCh38]
Chr22:29095844 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.293C>T (p.Ala98Val) single nucleotide variant Familial cancer of breast [RCV000797913]|Hereditary cancer-predisposing syndrome [RCV004949918]|not provided [RCV003321739] Chr22:28734429 [GRCh38]
Chr22:29130417 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375+1G>A single nucleotide variant Familial cancer of breast [RCV000806336]|Hereditary cancer-predisposing syndrome [RCV001180798] Chr22:28695126 [GRCh38]
Chr22:29091114 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.80A>G (p.Gln27Arg) single nucleotide variant Familial cancer of breast [RCV000802148]|Hereditary cancer-predisposing syndrome [RCV004028093] Chr22:28734642 [GRCh38]
Chr22:29130630 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.199T>G (p.Ser67Ala) single nucleotide variant Familial cancer of breast [RCV000802191]|Hereditary cancer-predisposing syndrome [RCV001013995] Chr22:28734523 [GRCh38]
Chr22:29130511 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687887)_(28687996_?)del deletion Familial cancer of breast [RCV000798161] Chr22:28687887..28687996 [GRCh38]
Chr22:29083875..29083984 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1095+5_1095+6del deletion Familial cancer of breast [RCV000798044] Chr22:28696895..28696896 [GRCh38]
Chr22:29092883..29092884 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.418A>G (p.Ser140Gly) single nucleotide variant Familial cancer of breast [RCV000808882] Chr22:28725269 [GRCh38]
Chr22:29121257 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.736G>A (p.Val246Ile) single nucleotide variant Familial cancer of breast [RCV000792542]|Hereditary cancer-predisposing syndrome [RCV002386379]|not provided [RCV003144589] Chr22:28711965 [GRCh38]
Chr22:29107953 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q12.1(chr22:28730067-29099673)x1 copy number loss not provided [RCV000847487] Chr22:28730067..29099673 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.226G>A (p.Glu76Lys) single nucleotide variant Familial cancer of breast [RCV000818986]|not provided [RCV003478520] Chr22:28734496 [GRCh38]
Chr22:29130484 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687887)_(28719495_?)del deletion Familial cancer of breast [RCV000803924] Chr22:28687887..28719495 [GRCh38]
Chr22:29083875..29115483 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter) single nucleotide variant Familial cancer of breast [RCV000815160]|Hereditary cancer-predisposing syndrome [RCV005251229] Chr22:28719423 [GRCh38]
Chr22:29115411 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.526G>T (p.Gly176Trp) single nucleotide variant Familial cancer of breast [RCV004570024]|Hereditary cancer-predisposing syndrome [RCV001023831] Chr22:28725043 [GRCh38]
Chr22:29121031 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1226A>G (p.Asp409Gly) single nucleotide variant Familial cancer of breast [RCV005093060]|Hereditary cancer-predisposing syndrome [RCV001010427] Chr22:28695743 [GRCh38]
Chr22:29091731 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.155C>A (p.Ser52Tyr) single nucleotide variant Familial cancer of breast [RCV000793433]|Hereditary cancer-predisposing syndrome [RCV003166104] Chr22:28734567 [GRCh38]
Chr22:29130555 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1472T>A (p.Met491Lys) single nucleotide variant Familial cancer of breast [RCV000811704] Chr22:28689205 [GRCh38]
Chr22:29085193 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1243G>A (p.Val415Ile) single nucleotide variant Familial cancer of breast [RCV001216088]|Hereditary cancer-predisposing syndrome [RCV001010510]|not provided [RCV005429044]|not specified [RCV003230617] Chr22:28695726 [GRCh38]
Chr22:29091714 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NC_000022.11:g.(?_28709996)_(28725377_?)dup duplication Familial cancer of breast [RCV001031097] Chr22:29105984..29121365 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.11:g.(?_28687887)_(28699947_?)del deletion Familial cancer of breast [RCV001031151] Chr22:29083875..29095935 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1508A>C (p.Asn503Thr) single nucleotide variant Familial cancer of breast [RCV001068058] Chr22:28689169 [GRCh38]
Chr22:29085157 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.954C>T (p.Arg318=) single nucleotide variant Familial cancer of breast [RCV001435771]|Hereditary cancer-predisposing syndrome [RCV001019479] Chr22:28699892 [GRCh38]
Chr22:29095880 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.269del (p.Pro90fs) deletion Familial cancer of breast [RCV000822473]|Hereditary cancer-predisposing syndrome [RCV001016347] Chr22:28734453 [GRCh38]
Chr22:29130441 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29083875)_(29099564_?)dup duplication Familial cancer of breast [RCV000809296] Chr22:28687887..28703576 [GRCh38]
Chr22:29083875..29099564 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1132A>T (p.Thr378Ser) single nucleotide variant Familial cancer of breast [RCV001860620]|Hereditary cancer-predisposing syndrome [RCV001009953]|not provided [RCV001836932] Chr22:28695837 [GRCh38]
Chr22:29091825 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1531G>A (p.Val511Ile) single nucleotide variant Familial cancer of breast [RCV000810648]|not provided [RCV004588278] Chr22:28689146 [GRCh38]
Chr22:29085134 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28719385)_(28719495_?)del deletion Familial cancer of breast [RCV000809988] Chr22:28719385..28719495 [GRCh38]
Chr22:29115373..29115483 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28695117)_(28696997_?)del deletion Familial cancer of breast [RCV000812007] Chr22:28695117..28696997 [GRCh38]
Chr22:29091105..29092985 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.320-3970_454del deletion Familial cancer of breast [RCV000823218] Chr22:28725115..28729337 [GRCh38]
Chr22:29121103..29125325 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.484G>A (p.Asp162Asn) single nucleotide variant Familial cancer of breast [RCV000794146] Chr22:28725085 [GRCh38]
Chr22:29121073 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.533G>T (p.Gly178Val) single nucleotide variant Familial cancer of breast [RCV000807182] Chr22:28725036 [GRCh38]
Chr22:29121024 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter) single nucleotide variant Familial cancer of breast [RCV000794492] Chr22:28724994 [GRCh38]
Chr22:29120982 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.593-2158_593-2152dup duplication Familial cancer of breast [RCV000990392] Chr22:28721636..28721637 [GRCh38]
Chr22:29117624..29117625 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1175C>A (p.Ala392Glu) single nucleotide variant Familial cancer of breast [RCV002549312]|Hereditary cancer-predisposing syndrome [RCV001010136] Chr22:28695794 [GRCh38]
Chr22:29091782 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1202C>G (p.Thr401Ser) single nucleotide variant Familial cancer of breast [RCV001359953]|Hereditary cancer-predisposing syndrome [RCV001010202] Chr22:28695767 [GRCh38]
Chr22:29091755 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs) deletion Familial cancer of breast [RCV000811241] Chr22:28696962..28696977 [GRCh38]
Chr22:29092950..29092965 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.358A>C (p.Ser120Arg) single nucleotide variant Familial cancer of breast [RCV000798318] Chr22:28725329 [GRCh38]
Chr22:29121317 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1054A>G (p.Asn352Asp) single nucleotide variant CHEK2-related cancer predisposition [RCV005359582]|Familial cancer of breast [RCV000814850]|Hereditary cancer-predisposing syndrome [RCV002406848] Chr22:28696942 [GRCh38]
Chr22:29092930 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1273C>T (p.Pro425Ser) single nucleotide variant Familial cancer of breast [RCV000821450]|Hereditary cancer-predisposing syndrome [RCV002372345] Chr22:28695229 [GRCh38]
Chr22:29091217 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319+1G>T single nucleotide variant Familial cancer of breast [RCV000792964]|Hereditary cancer-predisposing syndrome [RCV002325499]|not provided [RCV000997892] Chr22:28734402 [GRCh38]
Chr22:29130390 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1325_1336del (p.Ser442_Tyr445del) deletion Familial cancer of breast [RCV000810552] Chr22:28695166..28695177 [GRCh38]
Chr22:29091154..29091165 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28694022)_(28734731_?)del deletion Familial cancer of breast [RCV000794139] Chr22:28694022..28734731 [GRCh38]
Chr22:29090010..29130719 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.704A>T (p.Lys235Met) single nucleotide variant Familial cancer of breast [RCV003315496] Chr22:28711997 [GRCh38]
Chr22:29107985 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28711899)_(28712027_?)del deletion Familial cancer of breast [RCV000795447] Chr22:28711899..28712027 [GRCh38]
Chr22:29107887..29108015 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29099483)_(29099564_?)dup duplication Familial cancer of breast [RCV000798151] Chr22:28703495..28703576 [GRCh38]
Chr22:29099483..29099564 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.11:g.(?_28687887)_(28734731_?)del deletion Familial cancer of breast [RCV000798811] Chr22:28687887..28734731 [GRCh38]
Chr22:29083875..29130719 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.120CTC[1] (p.Ser42del) microsatellite Familial cancer of breast [RCV000792203]|Hereditary cancer-predisposing syndrome [RCV001010450] Chr22:28734597..28734599 [GRCh38]
Chr22:29130585..29130587 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-7+27G>C single nucleotide variant not provided [RCV000829440] Chr22:28741742 [GRCh38]
Chr22:29137730 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.532G>C (p.Gly178Arg) single nucleotide variant Familial cancer of breast [RCV000813158]|Hereditary cancer-predisposing syndrome [RCV001188496] Chr22:28725037 [GRCh38]
Chr22:29121025 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.182G>T (p.Ser61Ile) single nucleotide variant Familial cancer of breast [RCV000799993]|Hereditary cancer-predisposing syndrome [RCV002406768] Chr22:28734540 [GRCh38]
Chr22:29130528 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+1G>A single nucleotide variant Familial cancer of breast [RCV000806398]|Hereditary cancer-predisposing syndrome [RCV002352383] Chr22:28724976 [GRCh38]
Chr22:29120964 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.652G>T (p.Asp218Tyr) single nucleotide variant Familial cancer of breast [RCV000792453] Chr22:28719426 [GRCh38]
Chr22:29115414 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.754A>G (p.Ser252Gly) single nucleotide variant Familial cancer of breast [RCV000800765]|Hereditary cancer-predisposing syndrome [RCV003166195] Chr22:28711947 [GRCh38]
Chr22:29107935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1316A>G (p.Gln439Arg) single nucleotide variant Familial cancer of breast [RCV000823080]|Hereditary cancer-predisposing syndrome [RCV002381875] Chr22:28695186 [GRCh38]
Chr22:29091174 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.181del (p.Ser61fs) deletion Familial cancer of breast [RCV000814575] Chr22:28734541 [GRCh38]
Chr22:29130529 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29130381)_(29130719_?)dup duplication Familial cancer of breast [RCV000807920] Chr22:28734393..28734731 [GRCh38]
Chr22:29130381..29130719 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter) single nucleotide variant Familial cancer of breast [RCV000823637] Chr22:28725279 [GRCh38]
Chr22:29121267 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.317T>C (p.Leu106Pro) single nucleotide variant Familial cancer of breast [RCV000823775]|Hereditary cancer-predisposing syndrome [RCV002319927] Chr22:28734405 [GRCh38]
Chr22:29130393 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.593-79T>C single nucleotide variant not provided [RCV000835970] Chr22:28719564 [GRCh38]
Chr22:29115552 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.994C>T (p.Leu332Phe) single nucleotide variant Familial cancer of breast [RCV000801406]|Hereditary cancer-predisposing syndrome [RCV002386424] Chr22:28699852 [GRCh38]
Chr22:29095840 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.658T>A (p.Tyr220Asn) single nucleotide variant Familial cancer of breast [RCV000824119] Chr22:28719420 [GRCh38]
Chr22:29115408 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1260-5T>C single nucleotide variant Familial cancer of breast [RCV001067810] Chr22:28695247 [GRCh38]
Chr22:29091235 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NC_000022.11:g.(?_28719385)_(28734725_?)del deletion Familial cancer of breast [RCV001032217] Chr22:29115373..29130713 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.924G>T (p.Glu308Asp) single nucleotide variant Familial cancer of breast [RCV001170064] Chr22:28699922 [GRCh38]
Chr22:29095910 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28694022)_(28699947_?)del deletion Familial cancer of breast [RCV001032702] Chr22:29090010..29095935 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.305del (p.Gly102fs) deletion Familial cancer of breast [RCV001044410] Chr22:28734417 [GRCh38]
Chr22:29130405 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.310G>T (p.Ala104Ser) single nucleotide variant Familial cancer of breast [RCV001044600]|Hereditary cancer-predisposing syndrome [RCV002320258] Chr22:28734412 [GRCh38]
Chr22:29130400 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.433C>G (p.Arg145Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022317] Chr22:28725254 [GRCh38]
Chr22:29121242 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28695700)_(28703576_?)del deletion Familial cancer of breast [RCV001032394] Chr22:29091688..29099564 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1159A>C (p.Thr387Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010043] Chr22:28695810 [GRCh38]
Chr22:29091798 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1190T>C (p.Val397Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010243] Chr22:28695779 [GRCh38]
Chr22:29091767 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1504del (p.Glu502fs) deletion Breast neoplasm [RCV000850310] Chr22:28689173 [GRCh38]
Chr22:29085161 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly) single nucleotide variant Familial cancer of breast [RCV000990398] Chr22:28734604 [GRCh38]
Chr22:29130592 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-7+4A>G single nucleotide variant Familial cancer of breast [RCV000990401] Chr22:28741765 [GRCh38]
Chr22:29137753 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.469_592+808del deletion Familial cancer of breast [RCV001065655] Chr22:28724169..28725100 [GRCh38]
Chr22:29120157..29121088 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.426A>G (p.Lys142=) single nucleotide variant Familial cancer of breast [RCV002067646]|Hereditary cancer-predisposing syndrome [RCV001022183] Chr22:28725261 [GRCh38]
Chr22:29121249 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.435G>T (p.Arg145=) single nucleotide variant Familial cancer of breast [RCV002067649]|Hereditary cancer-predisposing syndrome [RCV001022356] Chr22:28725252 [GRCh38]
Chr22:29121240 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.966_972dup (p.Lys325fs) duplication Hereditary cancer-predisposing syndrome [RCV001019612] Chr22:28699873..28699874 [GRCh38]
Chr22:29095861..29095862 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.337T>A (p.Tyr113Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001020144] Chr22:28725350 [GRCh38]
Chr22:29121338 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-7_694del deletion Familial cancer of breast [RCV002549652]|not provided [RCV000985703] Chr22:28712007..28712024 [GRCh38]
Chr22:29107995..29108012 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1337A>G (p.Asn446Ser) single nucleotide variant Familial cancer of breast [RCV001045771]|Hereditary cancer-predisposing syndrome [RCV002379525]|not provided [RCV004783887] Chr22:28695165 [GRCh38]
Chr22:29091153 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1193del (p.Ser398fs) deletion Familial cancer of breast [RCV001228230] Chr22:28695776 [GRCh38]
Chr22:29091764 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.109G>A (p.Gly37Ser) single nucleotide variant Familial cancer of breast [RCV001246601] Chr22:28734613 [GRCh38]
Chr22:29130601 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1325G>A (p.Ser442Asn) single nucleotide variant Familial cancer of breast [RCV001248390] Chr22:28695177 [GRCh38]
Chr22:29091165 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1069T>C (p.Ser357Pro) single nucleotide variant Familial cancer of breast [RCV001046026]|Hereditary cancer-predisposing syndrome [RCV004950160] Chr22:28696927 [GRCh38]
Chr22:29092915 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.776del (p.Gly259fs) deletion Familial cancer of breast [RCV001202837] Chr22:28711925 [GRCh38]
Chr22:29107913 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.(?_28696891)_(28696997_?)del deletion Familial cancer of breast [RCV001031771] Chr22:29092879..29092985 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687887)_(28703576_?)del deletion Familial cancer of breast [RCV001031896] Chr22:29083875..29099564 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.846+8T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183631] Chr22:28709998 [GRCh38]
Chr22:29105986 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.593-55G>A single nucleotide variant Familial cancer of breast [RCV000990389] Chr22:28719540 [GRCh38]
Chr22:29115528 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.593-2089T>C single nucleotide variant Familial cancer of breast [RCV000990390] Chr22:28721574 [GRCh38]
Chr22:29117562 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.351G>A (p.Arg117=) single nucleotide variant Familial cancer of breast [RCV003500661]|Hereditary cancer-predisposing syndrome [RCV001184861] Chr22:28725336 [GRCh38]
Chr22:29121324 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.908+2T>A single nucleotide variant Familial cancer of breast [RCV003336319]|Hereditary cancer-predisposing syndrome [RCV001184885] Chr22:28703503 [GRCh38]
Chr22:29099491 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1375+17G>A single nucleotide variant Familial cancer of breast [RCV002068407]|Hereditary cancer-predisposing syndrome [RCV001185237] Chr22:28695110 [GRCh38]
Chr22:29091098 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.41G>A (p.Gly14Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001022038] Chr22:28734681 [GRCh38]
Chr22:29130669 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1182_1187del (p.Glu394_Leu396delinsAsp) deletion Familial cancer of breast [RCV001230485] Chr22:28695782..28695787 [GRCh38]
Chr22:29091770..29091775 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.988C>G (p.Gln330Glu) single nucleotide variant Familial cancer of breast [RCV001209104] Chr22:28699858 [GRCh38]
Chr22:29095846 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1253T>C (p.Phe418Ser) single nucleotide variant Familial cancer of breast [RCV001230898] Chr22:28695716 [GRCh38]
Chr22:29091704 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1249C>T (p.Leu417Phe) single nucleotide variant Familial cancer of breast [RCV001215888]|Hereditary cancer-predisposing syndrome [RCV002402645] Chr22:28695720 [GRCh38]
Chr22:29091708 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.415T>A (p.Tyr139Asn) single nucleotide variant Familial cancer of breast [RCV001215963]|Hereditary cancer-predisposing syndrome [RCV004033984] Chr22:28725272 [GRCh38]
Chr22:29121260 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1062A>C (p.Leu354Phe) single nucleotide variant Familial cancer of breast [RCV001202856] Chr22:28696934 [GRCh38]
Chr22:29092922 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.338_358delinsG (p.Tyr113fs) indel Familial cancer of breast [RCV001240346] Chr22:28725329..28725349 [GRCh38]
Chr22:29121317..29121337 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.152A>C (p.Gln51Pro) single nucleotide variant Familial cancer of breast [RCV001225853] Chr22:28734570 [GRCh38]
Chr22:29130558 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-2A>T single nucleotide variant Familial cancer of breast [RCV001243341] Chr22:28712019 [GRCh38]
Chr22:29108007 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.436A>G (p.Ile146Val) single nucleotide variant Familial cancer of breast [RCV001216964]|Hereditary cancer-predisposing syndrome [RCV004609668] Chr22:28725251 [GRCh38]
Chr22:29121239 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1264A>C (p.Ser422Arg) single nucleotide variant Familial cancer of breast [RCV001222813] Chr22:28695238 [GRCh38]
Chr22:29091226 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.870_871insCTAC (p.Phe291fs) insertion Familial cancer of breast [RCV001233575] Chr22:28703542..28703543 [GRCh38]
Chr22:29099530..29099531 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.906del (p.Glu302fs) deletion Familial cancer of breast [RCV001224570] Chr22:28703507 [GRCh38]
Chr22:29099495 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1630T>G (p.Ter544Gly) single nucleotide variant Familial cancer of breast [RCV001238903] Chr22:28687899 [GRCh38]
Chr22:29083887 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.152A>G (p.Gln51Arg) single nucleotide variant Familial cancer of breast [RCV001205304]|Hereditary cancer-predisposing syndrome [RCV003163555] Chr22:28734570 [GRCh38]
Chr22:29130558 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.691T>C (p.Cys231Arg) single nucleotide variant Familial cancer of breast [RCV001239690]|Hereditary cancer-predisposing syndrome [RCV002366057] Chr22:28712010 [GRCh38]
Chr22:29107998 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.938del (p.Val313fs) deletion Familial cancer of breast [RCV001239350]|Hereditary cancer-predisposing syndrome [RCV004034610] Chr22:28699908 [GRCh38]
Chr22:29095896 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.622G>T (p.Asp208Tyr) single nucleotide variant Familial cancer of breast [RCV001241110]|Hereditary cancer-predisposing syndrome [RCV002366064] Chr22:28719456 [GRCh38]
Chr22:29115444 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter) single nucleotide variant Familial cancer of breast [RCV001226833] Chr22:28695154 [GRCh38]
Chr22:29091142 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.53G>A (p.Cys18Tyr) single nucleotide variant Familial cancer of breast [RCV001209652]|Hereditary cancer-predisposing syndrome [RCV002348683] Chr22:28734669 [GRCh38]
Chr22:29130657 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1234A>C (p.Ser412Arg) single nucleotide variant Familial cancer of breast [RCV001227058]|Hereditary cancer-predisposing syndrome [RCV002258168] Chr22:28695735 [GRCh38]
Chr22:29091723 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.64del (p.His22fs) deletion Familial cancer of breast [RCV001227089]|Hereditary cancer-predisposing syndrome [RCV002366018] Chr22:28734658 [GRCh38]
Chr22:29130646 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1131G>C (p.Glu377Asp) single nucleotide variant Familial cancer of breast [RCV001227182] Chr22:28695838 [GRCh38]
Chr22:29091826 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.342G>C (p.Trp114Cys) single nucleotide variant Familial cancer of breast [RCV001234830] Chr22:28725345 [GRCh38]
Chr22:29121333 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.945del (p.Asn316fs) deletion Familial cancer of breast [RCV001234930] Chr22:28699901 [GRCh38]
Chr22:29095889 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.81G>C (p.Gln27His) single nucleotide variant Familial cancer of breast [RCV001221109] Chr22:28734641 [GRCh38]
Chr22:29130629 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.739G>A (p.Ala247Thr) single nucleotide variant CHEK2-related cancer predisposition [RCV005359962]|Familial cancer of breast [RCV001223627]|Hereditary cancer-predisposing syndrome [RCV002379845] Chr22:28711962 [GRCh38]
Chr22:29107950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1050del (p.Glu351fs) deletion Familial cancer of breast [RCV001235204] Chr22:28696946 [GRCh38]
Chr22:29092934 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1546del (p.Ser516fs) deletion Familial cancer of breast [RCV001221449]|Hereditary cancer-predisposing syndrome [RCV002402676] Chr22:28687983 [GRCh38]
Chr22:29083971 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1507A>G (p.Asn503Asp) single nucleotide variant Familial cancer of breast [RCV001214654]|Hereditary cancer-predisposing syndrome [RCV005318652] Chr22:28689170 [GRCh38]
Chr22:29085158 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.186del (p.Ser62_Leu63insTer) deletion Familial cancer of breast [RCV001210302] Chr22:28734536 [GRCh38]
Chr22:29130524 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1007A>G (p.Gln336Arg) single nucleotide variant Familial cancer of breast [RCV001238439] Chr22:28699839 [GRCh38]
Chr22:29095827 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.467dup (p.Tyr156Ter) duplication Familial cancer of breast [RCV001218672] Chr22:28725101..28725102 [GRCh38]
Chr22:29121089..29121090 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) single nucleotide variant Familial cancer of breast [RCV001250441] Chr22:28719479 [GRCh38]
Chr22:29115467 [GRCh37]
Chr22:22q12.1		 pathogenic|conflicting interpretations of pathogenicity
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter) single nucleotide variant Familial cancer of breast [RCV001226509]|Hereditary cancer-predisposing syndrome [RCV001180499] Chr22:28696953 [GRCh38]
Chr22:29092941 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.290_292delinsAGT (p.Trp97_Ala98delinsTer) indel Familial cancer of breast [RCV001240920] Chr22:28734430..28734432 [GRCh38]
Chr22:29130418..29130420 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1A>C (p.Met1Leu) single nucleotide variant Familial cancer of breast [RCV001219042] Chr22:28734721 [GRCh38]
Chr22:29130709 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q12.1(chr22:29083885-29092975)x1 copy number loss not provided [RCV000997961] Chr22:29083885..29092975 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter) single nucleotide variant Familial cancer of breast [RCV001236386] Chr22:28734624 [GRCh38]
Chr22:29130612 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.299del (p.Gln100fs) deletion Familial cancer of breast [RCV003316942] Chr22:28734423 [GRCh38]
Chr22:29130411 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.11:g.28742014G>A single nucleotide variant Familial cancer of breast [RCV000990403] Chr22:28742014 [GRCh38]
Chr22:29138002 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys) single nucleotide variant Familial cancer of breast [RCV001050856]|Hereditary cancer-predisposing syndrome [RCV001020289] Chr22:28725345 [GRCh38]
Chr22:29121333 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.26C>T (p.Ala9Val) single nucleotide variant Familial cancer of breast [RCV002560843]|Hereditary cancer-predisposing syndrome [RCV001183604] Chr22:28734696 [GRCh38]
Chr22:29130684 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.281C>T (p.Ala94Val) single nucleotide variant Familial cancer of breast [RCV001212391] Chr22:28734441 [GRCh38]
Chr22:29130429 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.206A>T (p.Gln69Leu) single nucleotide variant Familial cancer of breast [RCV001246575]|Hereditary cancer-predisposing syndrome [RCV004034867] Chr22:28734516 [GRCh38]
Chr22:29130504 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28719385)_(28734731_?)del deletion Familial cancer of breast [RCV001032876] Chr22:29115373..29130719 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1169A>T (p.Tyr390Phe) single nucleotide variant Familial cancer of breast [RCV001043388]|Hereditary cancer-predisposing syndrome [RCV003160306] Chr22:28695800 [GRCh38]
Chr22:29091788 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.935A>C (p.Lys312Thr) single nucleotide variant Familial cancer of breast [RCV001229953] Chr22:28699911 [GRCh38]
Chr22:29095899 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1430C>G (p.Thr477Arg) single nucleotide variant Familial cancer of breast [RCV001247389] Chr22:28694063 [GRCh38]
Chr22:29090051 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.320-313C>T single nucleotide variant not provided [RCV001544719] Chr22:28725680 [GRCh38]
Chr22:29121668 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.592+279G>C single nucleotide variant not provided [RCV001547293] Chr22:28724698 [GRCh38]
Chr22:29120686 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.909-275dup duplication not provided [RCV001551703] Chr22:28700211..28700212 [GRCh38]
Chr22:29096199..29096200 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.793-302T>A single nucleotide variant not provided [RCV001641415] Chr22:28710361 [GRCh38]
Chr22:29106349 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1095+250T>C single nucleotide variant not provided [RCV001684705] Chr22:28696651 [GRCh38]
Chr22:29092639 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.593-6_593-3del deletion Familial cancer of breast [RCV005094816]|Hereditary cancer-predisposing syndrome [RCV004946721]|not provided [RCV001577006] Chr22:28719488..28719491 [GRCh38]
Chr22:29115476..29115479 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.-7+2358G>A single nucleotide variant not provided [RCV001569547] Chr22:28739411 [GRCh38]
Chr22:29135399 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+3674_319+3676dup duplication not provided [RCV001592109] Chr22:28730726..28730727 [GRCh38]
Chr22:29126714..29126715 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1075G>A (p.Glu359Lys) single nucleotide variant Familial cancer of breast [RCV003607584]|Hereditary cancer-predisposing syndrome [RCV003293689] Chr22:28696921 [GRCh38]
Chr22:29092909 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1200del (p.Thr401fs) deletion Hereditary cancer-predisposing syndrome [RCV003293692] Chr22:28695769 [GRCh38]
Chr22:29091757 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1059_1060insA (p.Leu354fs) insertion Hereditary cancer-predisposing syndrome [RCV003293696] Chr22:28696936..28696937 [GRCh38]
Chr22:29092924..29092925 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.477C>T (p.Tyr159=) single nucleotide variant Familial cancer of breast [RCV000940064] Chr22:28725092 [GRCh38]
Chr22:29121080 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.792+7A>G single nucleotide variant Familial cancer of breast [RCV001500614]|not provided [RCV004997518] Chr22:28711902 [GRCh38]
Chr22:29107890 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1581C>A (p.Ala527=) single nucleotide variant Familial cancer of breast [RCV001484293]|Hereditary cancer-predisposing syndrome [RCV005401669] Chr22:28687948 [GRCh38]
Chr22:29083936 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.921A>C (p.Gly307=) single nucleotide variant Familial cancer of breast [RCV001454732] Chr22:28699925 [GRCh38]
Chr22:29095913 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.51C>T (p.Ala17=) single nucleotide variant Familial cancer of breast [RCV001438190] Chr22:28734671 [GRCh38]
Chr22:29130659 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1458T>G (p.Leu486=) single nucleotide variant Familial cancer of breast [RCV001501023] Chr22:28694035 [GRCh38]
Chr22:29090023 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.445-7A>G single nucleotide variant Familial cancer of breast [RCV001431082] Chr22:28725131 [GRCh38]
Chr22:29121119 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1587T>C (p.Gly529=) single nucleotide variant Familial cancer of breast [RCV001476054] Chr22:28687942 [GRCh38]
Chr22:29083930 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.684-10T>C single nucleotide variant Familial cancer of breast [RCV001466332]|Hereditary cancer-predisposing syndrome [RCV001525136] Chr22:28712027 [GRCh38]
Chr22:29108015 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1248T>A (p.Ile416=) single nucleotide variant Familial cancer of breast [RCV001394474]|Hereditary cancer-predisposing syndrome [RCV001010557] Chr22:28695721 [GRCh38]
Chr22:29091709 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.753C>T (p.Ile251=) single nucleotide variant Familial cancer of breast [RCV000932197]|Hereditary cancer-predisposing syndrome [RCV003380781]|Li-Fraumeni syndrome [RCV005367635] Chr22:28711948 [GRCh38]
Chr22:29107936 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1228T>C (p.Cys410Arg) single nucleotide variant Familial cancer of breast [RCV001203152] Chr22:28695741 [GRCh38]
Chr22:29091729 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.397del (p.Thr133fs) deletion Familial cancer of breast [RCV001070798] Chr22:28725290 [GRCh38]
Chr22:29121278 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1496T>C (p.Leu499Pro) single nucleotide variant Familial cancer of breast [RCV001218310] Chr22:28689181 [GRCh38]
Chr22:29085169 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter) single nucleotide variant Familial cancer of breast [RCV001247249]|not provided [RCV003442813] Chr22:28734424 [GRCh38]
Chr22:29130412 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val) single nucleotide variant Familial cancer of breast [RCV001876072]|Hereditary cancer-predisposing syndrome [RCV001182834]|not specified [RCV002240778] Chr22:28687907 [GRCh38]
Chr22:29083895 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1361A>G (p.Glu454Gly) single nucleotide variant Familial cancer of breast [RCV001201613]|Hereditary cancer-predisposing syndrome [RCV003353203] Chr22:28695141 [GRCh38]
Chr22:29091129 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1079A>T (p.Glu360Val) single nucleotide variant Familial cancer of breast [RCV001071228] Chr22:28696917 [GRCh38]
Chr22:29092905 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1210_1211insTT (p.Tyr404fs) insertion Familial cancer of breast [RCV001035444] Chr22:28695758..28695759 [GRCh38]
Chr22:29091746..29091747 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.875T>C (p.Phe292Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV005359939]|Familial cancer of breast [RCV001207680] Chr22:28703538 [GRCh38]
Chr22:29099526 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.320-18C>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183395] Chr22:28725385 [GRCh38]
Chr22:29121373 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.298C>A (p.Gln100Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183588] Chr22:28734424 [GRCh38]
Chr22:29130412 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-6-8T>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187657] Chr22:28734735 [GRCh38]
Chr22:29130723 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1118A>C (p.Lys373Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187757] Chr22:28695851 [GRCh38]
Chr22:29091839 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.569C>G (p.Ala190Gly) single nucleotide variant Familial cancer of breast [RCV001226608] Chr22:28725000 [GRCh38]
Chr22:29120988 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.113T>C (p.Ile38Thr) single nucleotide variant Familial cancer of breast [RCV001205195]|Hereditary cancer-predisposing syndrome [RCV001187819] Chr22:28734609 [GRCh38]
Chr22:29130597 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.52T>G (p.Cys18Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001187827] Chr22:28734670 [GRCh38]
Chr22:29130658 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+17T>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188008] Chr22:28703488 [GRCh38]
Chr22:29099476 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.362G>A (p.Cys121Tyr) single nucleotide variant Familial cancer of breast [RCV002549523]|Hereditary cancer-predisposing syndrome [RCV001020759] Chr22:28725325 [GRCh38]
Chr22:29121313 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.579A>G (p.Leu193=) single nucleotide variant Familial cancer of breast [RCV001417823]|Hereditary cancer-predisposing syndrome [RCV001188506] Chr22:28724990 [GRCh38]
Chr22:29120978 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.543_549del (p.Pro182fs) deletion Familial cancer of breast [RCV001214520] Chr22:28725020..28725026 [GRCh38]
Chr22:29121008..29121014 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.606_607insSVAelement insertion Familial cancer of breast [RCV001089781] Chr22:28719471..28719472 [GRCh38]
Chr22:29115459..29115460 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1066T>C (p.Ser356Pro) single nucleotide variant Familial cancer of breast [RCV001208099] Chr22:28696930 [GRCh38]
Chr22:29092918 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.209_216del (p.Glu70fs) deletion Familial cancer of breast [RCV001245023] Chr22:28734506..28734513 [GRCh38]
Chr22:29130494..29130501 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.775G>C (p.Gly259Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001188754] Chr22:28711926 [GRCh38]
Chr22:29107914 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095G>C (p.Lys365Asn) single nucleotide variant Familial cancer of breast [RCV001219893]|Hereditary cancer-predisposing syndrome [RCV003363177] Chr22:28696901 [GRCh38]
Chr22:29092889 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1218T>G (p.Arg406=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189114] Chr22:28695751 [GRCh38]
Chr22:29091739 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1461+6T>A single nucleotide variant Familial cancer of breast [RCV001223454] Chr22:28694026 [GRCh38]
Chr22:29090014 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1430del (p.Thr477fs) deletion Familial cancer of breast [RCV001223646] Chr22:28694063 [GRCh38]
Chr22:29090051 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1034A>C (p.His345Pro) single nucleotide variant Familial cancer of breast [RCV001245438]|Hereditary cancer-predisposing syndrome [RCV004034828] Chr22:28696962 [GRCh38]
Chr22:29092950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1411C>T (p.Pro471Ser) single nucleotide variant Familial cancer of breast [RCV003607413]|Hereditary cancer-predisposing syndrome [RCV001189330] Chr22:28694082 [GRCh38]
Chr22:29090070 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1247T>G (p.Ile416Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189357] Chr22:28695722 [GRCh38]
Chr22:29091710 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.343T>G (p.Phe115Val) single nucleotide variant Familial cancer of breast [RCV001245540]|Hereditary cancer-predisposing syndrome [RCV003294144] Chr22:28725344 [GRCh38]
Chr22:29121332 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.194C>T (p.Thr65Ile) single nucleotide variant Familial cancer of breast [RCV005093904]|Hereditary cancer-predisposing syndrome [RCV001184842] Chr22:28734528 [GRCh38]
Chr22:29130516 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1260-13T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001177727] Chr22:28695255 [GRCh38]
Chr22:29091243 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.490A>C (p.Ser164Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189608] Chr22:28725079 [GRCh38]
Chr22:29121067 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.752T>A (p.Ile251Asn) single nucleotide variant Familial cancer of breast [RCV001213761] Chr22:28711949 [GRCh38]
Chr22:29107937 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1067C>G (p.Ser356Ter) single nucleotide variant Familial cancer of breast [RCV001206015] Chr22:28696929 [GRCh38]
Chr22:29092917 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1236T>A (p.Ser412Arg) single nucleotide variant CHEK2-related cancer predisposition [RCV005359898]|Hereditary cancer-predisposing syndrome [RCV001180965] Chr22:28695733 [GRCh38]
Chr22:29091721 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.605T>G (p.Phe202Cys) single nucleotide variant Familial cancer of breast [RCV001326928]|Hereditary cancer-predisposing syndrome [RCV001189846] Chr22:28719473 [GRCh38]
Chr22:29115461 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.769G>C (p.Ala257Pro) single nucleotide variant Familial cancer of breast [RCV001209201] Chr22:28711932 [GRCh38]
Chr22:29107920 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.989A>G (p.Gln330Arg) single nucleotide variant Familial cancer of breast [RCV001237564] Chr22:28699857 [GRCh38]
Chr22:29095845 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1058T>A (p.Val353Asp) single nucleotide variant Familial cancer of breast [RCV001227875] Chr22:28696938 [GRCh38]
Chr22:29092926 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.683+17T>C single nucleotide variant Familial cancer of breast [RCV001876063]|Hereditary cancer-predisposing syndrome [RCV001182603] Chr22:28719378 [GRCh38]
Chr22:29115366 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.994C>A (p.Leu332Ile) single nucleotide variant Familial cancer of breast [RCV001220755] Chr22:28699852 [GRCh38]
Chr22:29095840 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.806_807del (p.Asn269fs) deletion Familial cancer of breast [RCV001224551] Chr22:28710045..28710046 [GRCh38]
Chr22:29106033..29106034 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.545C>G (p.Pro182Arg) single nucleotide variant CHEK2-related cancer predisposition [RCV005367674]|Hereditary breast ovarian cancer syndrome [RCV001030687] Chr22:28725024 [GRCh38]
Chr22:29121012 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.589A>G (p.Lys197Glu) single nucleotide variant Familial cancer of breast [RCV001875787]|Hereditary cancer-predisposing syndrome [RCV001175791]|not provided [RCV004773303] Chr22:28724980 [GRCh38]
Chr22:29120968 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.260_261insCCAAGAGCCTGAGGA (p.Glu86_Glu87insAspGlnGluProGlu) insertion Familial cancer of breast [RCV005093765]|Hereditary cancer-predisposing syndrome [RCV001176255] Chr22:28734461..28734462 [GRCh38]
Chr22:29130449..29130450 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1163C>G (p.Pro388Arg) single nucleotide variant Familial cancer of breast [RCV001047870] Chr22:28695806 [GRCh38]
Chr22:29091794 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.870C>A (p.Asn290Lys) single nucleotide variant Familial cancer of breast [RCV001209602] Chr22:28703543 [GRCh38]
Chr22:29099531 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1607C>T (p.Pro536Leu) single nucleotide variant Familial cancer of breast [RCV001224872]|Hereditary cancer-predisposing syndrome [RCV002402703] Chr22:28687922 [GRCh38]
Chr22:29083910 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.12G>A (p.Glu4=) single nucleotide variant Familial cancer of breast [RCV002068230]|Hereditary cancer-predisposing syndrome [RCV001178921] Chr22:28734710 [GRCh38]
Chr22:29130698 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.938T>C (p.Val313Ala) single nucleotide variant Familial cancer of breast [RCV001875921]|Hereditary cancer-predisposing syndrome [RCV001179048]|not provided [RCV004590138] Chr22:28699908 [GRCh38]
Chr22:29095896 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.86A>C (p.Gln29Pro) single nucleotide variant Familial cancer of breast [RCV002559105]|Hereditary cancer-predisposing syndrome [RCV001186375]|not provided [RCV004998696] Chr22:28734636 [GRCh38]
Chr22:29130624 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.217T>C (p.Ser73Pro) single nucleotide variant Familial cancer of breast [RCV001241281] Chr22:28734505 [GRCh38]
Chr22:29130493 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375+20A>G single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001191396] Chr22:28695107 [GRCh38]
Chr22:29091095 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.276C>G (p.Pro92=) single nucleotide variant CHEK2-related disorder [RCV004538406]|Familial cancer of breast [RCV001489109]|Familial prostate cancer [RCV005367740]|Hereditary cancer-predisposing syndrome [RCV001177710] Chr22:28734446 [GRCh38]
Chr22:29130434 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.3G>C (p.Met1Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179508] Chr22:28734719 [GRCh38]
Chr22:29130707 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.548T>C (p.Leu183Ser) single nucleotide variant Familial cancer of breast [RCV003607417]|Hereditary cancer-predisposing syndrome [RCV001192013] Chr22:28725021 [GRCh38]
Chr22:29121009 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.340T>C (p.Trp114Arg) single nucleotide variant Familial cancer of breast [RCV001235212]|Hereditary cancer-predisposing syndrome [RCV003166449] Chr22:28725347 [GRCh38]
Chr22:29121335 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.341G>T (p.Trp114Leu) single nucleotide variant Familial cancer of breast [RCV001206898]|Hereditary cancer-predisposing syndrome [RCV002451442]|not provided [RCV004726957] Chr22:28725346 [GRCh38]
Chr22:29121334 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.28712013CAC[1] microsatellite Familial cancer of breast [RCV001241792] Chr22:28712013..28712015 [GRCh38]
Chr22:29108001..29108003 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.593-2151A>T single nucleotide variant Familial cancer of breast [RCV000990391] Chr22:28721636 [GRCh38]
Chr22:29117624 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.592+50A>C single nucleotide variant Familial cancer of breast [RCV000990394] Chr22:28724927 [GRCh38]
Chr22:29120915 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1375+78C>G single nucleotide variant not provided [RCV001665398] Chr22:28695049 [GRCh38]
Chr22:29091037 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.684-224T>C single nucleotide variant not provided [RCV001620018] Chr22:28712241 [GRCh38]
Chr22:29108229 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.319+4082_319+4086del deletion not provided [RCV001553532] Chr22:28730317..28730321 [GRCh38]
Chr22:29126305..29126309 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.846+138C>T single nucleotide variant not provided [RCV001576205] Chr22:28709868 [GRCh38]
Chr22:29105856 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1569T>G (p.Arg523=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258745] Chr22:28687960 [GRCh38]
Chr22:29083948 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.371G>A (p.Cys124Tyr) single nucleotide variant Familial cancer of breast [RCV005095913]|Hereditary cancer-predisposing syndrome [RCV002258747] Chr22:28725316 [GRCh38]
Chr22:29121304 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+5T>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258750] Chr22:28724972 [GRCh38]
Chr22:29120960 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.670A>G (p.Lys224Glu) single nucleotide variant Familial cancer of breast [RCV003500695]|Hereditary cancer-predisposing syndrome [RCV002258751] Chr22:28719408 [GRCh38]
Chr22:29115396 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.32A>G (p.Gln11Arg) single nucleotide variant Familial cancer of breast [RCV004572103]|Hereditary cancer-predisposing syndrome [RCV002259292] Chr22:28734690 [GRCh38]
Chr22:29130678 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1543-168G>A single nucleotide variant not provided [RCV001555373] Chr22:28688154 [GRCh38]
Chr22:29084142 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.793-33dup duplication not specified [RCV002466229] Chr22:28710091..28710092 [GRCh38]
Chr22:29106079..29106080 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.846+14T>C single nucleotide variant not specified [RCV002466228] Chr22:28709992 [GRCh38]
Chr22:29105980 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1199G>A (p.Gly400Glu) single nucleotide variant Familial cancer of breast [RCV001862763]|Hereditary cancer-predisposing syndrome [RCV001010254] Chr22:28695770 [GRCh38]
Chr22:29091758 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.518A>G (p.Glu173Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023686] Chr22:28725051 [GRCh38]
Chr22:29121039 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.463T>C (p.Ser155Pro) single nucleotide variant Familial cancer of breast [RCV001043313]|Hereditary cancer-predisposing syndrome [RCV001022830] Chr22:28725106 [GRCh38]
Chr22:29121094 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.103T>C (p.Ser35Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009772] Chr22:28734619 [GRCh38]
Chr22:29130607 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.502A>G (p.Thr168Ala) single nucleotide variant Familial cancer of breast [RCV001320914]|Hereditary cancer-predisposing syndrome [RCV001023443] Chr22:28725067 [GRCh38]
Chr22:29121055 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs) deletion Familial cancer of breast [RCV003336226]|not provided [RCV001008187] Chr22:28695827..28695836 [GRCh38]
Chr22:29091815..29091824 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1349_1350del (p.Glu450fs) deletion Hereditary cancer-predisposing syndrome [RCV001010999]|not provided [RCV001008394] Chr22:28695152..28695153 [GRCh38]
Chr22:29091140..29091141 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1008+191del deletion not provided [RCV001639670] Chr22:28699647 [GRCh38]
Chr22:29095635 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.465_468del (p.Tyr156fs) deletion Familial cancer of breast [RCV003467668]|Hereditary cancer-predisposing syndrome [RCV001022847] Chr22:28725101..28725104 [GRCh38]
Chr22:29121089..29121092 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.743T>C (p.Ile248Thr) single nucleotide variant Familial cancer of breast [RCV001537642]|Hereditary cancer-predisposing syndrome [RCV002386440]|not provided [RCV004546664] Chr22:28711958 [GRCh38]
Chr22:29107946 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1462-198C>T single nucleotide variant not provided [RCV001565155] Chr22:28689413 [GRCh38]
Chr22:29085401 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1375+225C>T single nucleotide variant not provided [RCV001643599] Chr22:28694902 [GRCh38]
Chr22:29090890 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.684-100_684-78dup duplication Hereditary breast ovarian cancer syndrome [RCV002225880]|not provided [RCV001620289] Chr22:28712094..28712095 [GRCh38]
Chr22:29108082..29108083 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.593-287G>T single nucleotide variant not provided [RCV001596399] Chr22:28719772 [GRCh38]
Chr22:29115760 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.-6-99dup duplication not provided [RCV001718045] Chr22:28734825..28734826 [GRCh38]
Chr22:29130813..29130814 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.925C>A (p.Leu309Met) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019092] Chr22:28699921 [GRCh38]
Chr22:29095909 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-7+2214C>T single nucleotide variant not provided [RCV001698612] Chr22:28739555 [GRCh38]
Chr22:29135543 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.793-127T>C single nucleotide variant not provided [RCV001654128] Chr22:28710186 [GRCh38]
Chr22:29106174 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.319+3621G>A single nucleotide variant not provided [RCV001677093] Chr22:28730782 [GRCh38]
Chr22:29126770 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.-6-99del deletion not provided [RCV001718080] Chr22:28734826 [GRCh38]
Chr22:29130814 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.847-200A>G single nucleotide variant not provided [RCV001718124] Chr22:28703766 [GRCh38]
Chr22:29099754 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.-7+62del deletion not provided [RCV001621120] Chr22:28741707 [GRCh38]
Chr22:29137695 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.319+4177C>T single nucleotide variant not provided [RCV001656568] Chr22:28730226 [GRCh38]
Chr22:29126214 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1375+347T>G single nucleotide variant not provided [RCV001594606] Chr22:28694780 [GRCh38]
Chr22:29090768 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs) indel Familial cancer of breast [RCV001239033]|Hereditary cancer-predisposing syndrome [RCV001025922] Chr22:28712001 [GRCh38]
Chr22:29107989 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.171T>A (p.Ser57=) single nucleotide variant Familial cancer of breast [RCV005245608]|Hereditary cancer-predisposing syndrome [RCV001012868] Chr22:28734551 [GRCh38]
Chr22:29130539 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1142T>C (p.Met381Thr) single nucleotide variant Familial cancer of breast [RCV002558952]|Hereditary cancer-predisposing syndrome [RCV001180416] Chr22:28695827 [GRCh38]
Chr22:29091815 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.96C>G (p.Ser32=) single nucleotide variant Familial cancer of breast [RCV002068980]|Hereditary breast ovarian cancer syndrome [RCV002225785]|Hereditary cancer-predisposing syndrome [RCV001019651] Chr22:28734626 [GRCh38]
Chr22:29130614 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1009T>C (p.Tyr337His) single nucleotide variant Familial cancer of breast [RCV001048515] Chr22:28696987 [GRCh38]
Chr22:29092975 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.420C>G (p.Ser140Arg) single nucleotide variant Familial cancer of breast [RCV001048698]|Hereditary cancer-predisposing syndrome [RCV004950167] Chr22:28725267 [GRCh38]
Chr22:29121255 [GRCh37]
Chr22:22q12.1		 uncertain significance
NG_008150.2:g.(27473_34849)_(43363_46929)dup duplication Familial cancer of breast [RCV001090197]   pathogenic
NM_007194.4(CHEK2):c.800C>T (p.Ala267Val) single nucleotide variant Familial cancer of breast [RCV001090208] Chr22:28710052 [GRCh38]
Chr22:29106040 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.733A>T (p.Lys245Ter) single nucleotide variant Familial cancer of breast [RCV001055878]|Hereditary cancer-predisposing syndrome [RCV001026288] Chr22:28711968 [GRCh38]
Chr22:29107956 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.747G>C (p.Lys249Asn) single nucleotide variant Familial cancer of breast [RCV001873410]|Hereditary cancer-predisposing syndrome [RCV001026484] Chr22:28711954 [GRCh38]
Chr22:29107942 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.267C>T (p.Thr89=) single nucleotide variant Familial cancer of breast [RCV002559140]|Hereditary cancer-predisposing syndrome [RCV001187947] Chr22:28734455 [GRCh38]
Chr22:29130443 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.785G>A (p.Arg262Lys) single nucleotide variant Familial cancer of breast [RCV001862386]|Hereditary cancer-predisposing syndrome [RCV001026884] Chr22:28711916 [GRCh38]
Chr22:29107904 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.194C>A (p.Thr65Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001013717] Chr22:28734528 [GRCh38]
Chr22:29130516 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-8T>C single nucleotide variant Familial cancer of breast [RCV001442403]|Hereditary cancer-predisposing syndrome [RCV001185158]|not provided [RCV001249388] Chr22:28699945 [GRCh38]
Chr22:29095933 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance|not provided
NM_007194.4(CHEK2):c.1162C>T (p.Pro388Ser) single nucleotide variant Familial cancer of breast [RCV002549309]|Hereditary cancer-predisposing syndrome [RCV001010058] Chr22:28695807 [GRCh38]
Chr22:29091795 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+16T>C single nucleotide variant Familial cancer of breast [RCV002560022]|Hereditary cancer-predisposing syndrome [RCV001188541] Chr22:28703489 [GRCh38]
Chr22:29099477 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.719G>C (p.Arg240Thr) single nucleotide variant Familial cancer of breast [RCV002560027]|Hereditary cancer-predisposing syndrome [RCV001188620] Chr22:28711982 [GRCh38]
Chr22:29107970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.332A>G (p.Asp111Gly) single nucleotide variant Familial cancer of breast [RCV001228350]|Hereditary cancer-predisposing syndrome [RCV002259095] Chr22:28725355 [GRCh38]
Chr22:29121343 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.492T>G (p.Ser164Arg) single nucleotide variant Familial cancer of breast [RCV001862258]|Hereditary cancer-predisposing syndrome [RCV001023283] Chr22:28725077 [GRCh38]
Chr22:29121065 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.810T>C (p.Val270=) single nucleotide variant Familial cancer of breast [RCV002067709]|Hereditary cancer-predisposing syndrome [RCV001027190] Chr22:28710042 [GRCh38]
Chr22:29106030 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.793-17T>G single nucleotide variant Familial cancer of breast [RCV002559908]|Hereditary cancer-predisposing syndrome [RCV001185486] Chr22:28710076 [GRCh38]
Chr22:29106064 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val) single nucleotide variant Familial cancer of breast [RCV001320784]|Hereditary cancer-predisposing syndrome [RCV004950302]|not provided [RCV002511053]|not specified [RCV001193087] Chr22:28689187 [GRCh38]
Chr22:29085175 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1174G>A (p.Ala392Thr) single nucleotide variant Familial cancer of breast [RCV001046278]|Hereditary cancer-predisposing syndrome [RCV001010132] Chr22:28695795 [GRCh38]
Chr22:29091783 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.100C>A (p.Gln34Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001189255] Chr22:28734622 [GRCh38]
Chr22:29130610 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1610C>A (p.Ala537Asp) single nucleotide variant Familial cancer of breast [RCV001049964] Chr22:28687919 [GRCh38]
Chr22:29083907 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.601T>C (p.Phe201Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001185857] Chr22:28719477 [GRCh38]
Chr22:29115465 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1017T>G (p.His339Gln) single nucleotide variant Familial cancer of breast [RCV001210909]|Hereditary cancer-predisposing syndrome [RCV001185888] Chr22:28696979 [GRCh38]
Chr22:29092967 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1572del (p.Glu526fs) deletion Familial cancer of breast [RCV001071724]|Hereditary cancer-predisposing syndrome [RCV004950254] Chr22:28687957 [GRCh38]
Chr22:29083945 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter) single nucleotide variant Familial cancer of breast [RCV001862769]|Hereditary cancer-predisposing syndrome [RCV001010468] Chr22:28695736 [GRCh38]
Chr22:29091724 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.207G>C (p.Gln69His) single nucleotide variant CHEK2-related disorder [RCV004738119]|Familial cancer of breast [RCV001047470]|Hereditary cancer-predisposing syndrome [RCV001014356]|not specified [RCV005236529] Chr22:28734515 [GRCh38]
Chr22:29130503 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1569T>A (p.Arg523=) single nucleotide variant Familial cancer of breast [RCV001445083]|Hereditary cancer-predisposing syndrome [RCV001189800] Chr22:28687960 [GRCh38]
Chr22:29083948 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.495_496delinsAT (p.Asn166Tyr) indel Familial cancer of breast [RCV001050452] Chr22:28725073..28725074 [GRCh38]
Chr22:29121061..29121062 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1250T>G (p.Leu417Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010543] Chr22:28695719 [GRCh38]
Chr22:29091707 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1492C>T (p.Leu498Phe) single nucleotide variant Familial cancer of breast [RCV001307419]|Hereditary cancer-predisposing syndrome [RCV001178926] Chr22:28689185 [GRCh38]
Chr22:29085173 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095+19G>C single nucleotide variant Familial cancer of breast [RCV003500664]|Hereditary cancer-predisposing syndrome [RCV001185638] Chr22:28696882 [GRCh38]
Chr22:29092870 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.*48A>T single nucleotide variant CHEK2-related cancer predisposition [RCV005414565] Chr22:28687849 [GRCh38]
Chr22:29083837 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.*26A>G single nucleotide variant CHEK2-related cancer predisposition [RCV005414566] Chr22:28687871 [GRCh38]
Chr22:29083859 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.566T>G (p.Ile189Ser) single nucleotide variant Familial cancer of breast [RCV001043647] Chr22:28725003 [GRCh38]
Chr22:29120991 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.699G>A (p.Glu233=) single nucleotide variant Familial cancer of breast [RCV002559929]|Hereditary cancer-predisposing syndrome [RCV001186348] Chr22:28712002 [GRCh38]
Chr22:29107990 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.(?_28724967)_(28734725_?)del deletion Familial cancer of breast [RCV001032514] Chr22:29120955..29130713 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.802C>A (p.Leu268Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181231] Chr22:28710050 [GRCh38]
Chr22:29106038 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1009-18G>A single nucleotide variant Familial cancer of breast [RCV002559756]|Hereditary cancer-predisposing syndrome [RCV001179141] Chr22:28697005 [GRCh38]
Chr22:29092993 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1064T>C (p.Leu355Pro) single nucleotide variant Familial cancer of breast [RCV003607411]|Hereditary cancer-predisposing syndrome [RCV001186517]|not provided [RCV004726933] Chr22:28696932 [GRCh38]
Chr22:29092920 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.256G>C (p.Glu86Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001175831] Chr22:28734466 [GRCh38]
Chr22:29130454 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.46A>G (p.Ser16Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001183420] Chr22:28734676 [GRCh38]
Chr22:29130664 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.794A>G (p.Asp265Gly) single nucleotide variant Familial cancer of breast [RCV001066714] Chr22:28710058 [GRCh38]
Chr22:29106046 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.729T>C (p.Cys243=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001181444] Chr22:28711972 [GRCh38]
Chr22:29107960 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.267C>G (p.Thr89=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001016308] Chr22:28734455 [GRCh38]
Chr22:29130443 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.(?_28687897)_(28734725_?)del deletion Familial cancer of breast [RCV001032859] Chr22:29083885..29130713 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1123T>C (p.Leu375=) single nucleotide variant Familial cancer of breast [RCV005093766]|Hereditary cancer-predisposing syndrome [RCV001176468] Chr22:28695846 [GRCh38]
Chr22:29091834 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.134C>G (p.Thr45Arg) single nucleotide variant CHEK2-related disorder [RCV004528335]|Familial cancer of breast [RCV003500617]|Hereditary cancer-predisposing syndrome [RCV001011025] Chr22:28734588 [GRCh38]
Chr22:29130576 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.136A>T (p.Met46Leu) single nucleotide variant CHEK2-related cancer predisposition [RCV005414547]|Familial cancer of breast [RCV001038692]|Hereditary cancer-predisposing syndrome [RCV001011203] Chr22:28734586 [GRCh38]
Chr22:29130574 [GRCh37]
Chr22:22q12.1		 uncertain significance|not provided
NM_007194.4(CHEK2):c.1048C>T (p.Pro350Ser) single nucleotide variant Familial cancer of breast [RCV002549448]|Hereditary cancer-predisposing syndrome [RCV001017075] Chr22:28696948 [GRCh38]
Chr22:29092936 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.169T>C (p.Ser57Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001179521] Chr22:28734553 [GRCh38]
Chr22:29130541 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1577A>G (p.Glu526Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001178561] Chr22:28687952 [GRCh38]
Chr22:29083940 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+18T>C single nucleotide variant Familial cancer of breast [RCV003106143]|Hereditary cancer-predisposing syndrome [RCV001187258] Chr22:28724959 [GRCh38]
Chr22:29120947 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1273C>G (p.Pro425Ala) single nucleotide variant Familial cancer of breast [RCV005057072]|Hereditary cancer-predisposing syndrome [RCV001192022] Chr22:28695229 [GRCh38]
Chr22:29091217 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319+16G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001192029] Chr22:28734387 [GRCh38]
Chr22:29130375 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.(?_28687887)_(28725377_?)del deletion Familial cancer of breast [RCV001033122] Chr22:29083875..29121365 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1444A>G (p.Arg482Gly) single nucleotide variant Familial cancer of breast [RCV005093078]|Hereditary cancer-predisposing syndrome [RCV001011614] Chr22:28694049 [GRCh38]
Chr22:29090037 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr) single nucleotide variant Familial cancer of breast [RCV001860855]|Hereditary cancer-predisposing syndrome [RCV001017150]|not specified [RCV003479265] Chr22:28696942 [GRCh38]
Chr22:29092930 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095+5G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017263] Chr22:28696896 [GRCh38]
Chr22:29092884 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1143G>A (p.Met381Ile) single nucleotide variant Familial cancer of breast [RCV002550829]|Hereditary cancer-predisposing syndrome [RCV001017429] Chr22:28695826 [GRCh38]
Chr22:29091814 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.830T>G (p.Leu277Trp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017534]|not provided [RCV001766840] Chr22:28710022 [GRCh38]
Chr22:29106010 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1492del (p.Leu498fs) deletion Familial cancer of breast [RCV001875946]|Hereditary cancer-predisposing syndrome [RCV001179691] Chr22:28689185 [GRCh38]
Chr22:29085173 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.445G>C (p.Glu149Gln) single nucleotide variant Familial cancer of breast [RCV002558918]|Hereditary cancer-predisposing syndrome [RCV001179706] Chr22:28725124 [GRCh38]
Chr22:29121112 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095+11G>A single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182582] Chr22:28696890 [GRCh38]
Chr22:29092878 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.908+7A>T single nucleotide variant Familial cancer of breast [RCV001394239]|not specified [RCV001175505] Chr22:28703498 [GRCh38]
Chr22:29099486 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.444+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001192042] Chr22:28725242 [GRCh38]
Chr22:29121230 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.11:g.(?_28687897)_(28687996_?)del deletion Familial cancer of breast [RCV001032128] Chr22:29083885..29083984 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.11:g.(?_28687897)_(28689225_?)del deletion Familial cancer of breast [RCV004583726] Chr22:29083885..29085213 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.11:g.(?_28719385)_(28725377_?)dup duplication Familial cancer of breast [RCV001033328] Chr22:29115373..29121365 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1462-3C>G single nucleotide variant Familial cancer of breast [RCV001222234]|Hereditary cancer-predisposing syndrome [RCV001011697] Chr22:28689218 [GRCh38]
Chr22:29085206 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1479A>T (p.Arg493Ser) single nucleotide variant Familial cancer of breast [RCV001339942]|Hereditary cancer-predisposing syndrome [RCV001011719] Chr22:28689198 [GRCh38]
Chr22:29085186 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1480A>G (p.Lys494Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011802] Chr22:28689197 [GRCh38]
Chr22:29085185 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.844C>T (p.His282Tyr) single nucleotide variant Familial cancer of breast [RCV001301865]|Hereditary cancer-predisposing syndrome [RCV001017812] Chr22:28710008 [GRCh38]
Chr22:29105996 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+2T>C single nucleotide variant Familial cancer of breast [RCV002549464]|Hereditary cancer-predisposing syndrome [RCV001017844] Chr22:28710004 [GRCh38]
Chr22:29105992 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.299A>G (p.Gln100Arg) single nucleotide variant Familial cancer of breast [RCV002551803]|Hereditary cancer-predisposing syndrome [RCV001017874] Chr22:28734423 [GRCh38]
Chr22:29130411 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.793G>A (p.Asp265Asn) single nucleotide variant Familial cancer of breast [RCV001317503]|Hereditary cancer-predisposing syndrome [RCV001187026] Chr22:28710059 [GRCh38]
Chr22:29106047 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs) duplication Familial cancer of breast [RCV002249759]|Hereditary cancer-predisposing syndrome [RCV001179811]|not provided [RCV003992458] Chr22:28695841..28695842 [GRCh38]
Chr22:29091829..29091830 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.909-1G>C single nucleotide variant Familial cancer of breast [RCV001378952]|Hereditary cancer-predisposing syndrome [RCV001175976] Chr22:28699938 [GRCh38]
Chr22:29095926 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.64C>T (p.His22Tyr) single nucleotide variant Familial cancer of breast [RCV001299690]|Hereditary cancer-predisposing syndrome [RCV001025344]|not provided [RCV001776086] Chr22:28734658 [GRCh38]
Chr22:29130646 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1568G>T (p.Arg523Leu) single nucleotide variant Familial cancer of breast [RCV002549360]|Hereditary cancer-predisposing syndrome [RCV001012175] Chr22:28687961 [GRCh38]
Chr22:29083949 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1560G>A (p.Lys520=) single nucleotide variant Familial cancer of breast [RCV002549362]|Hereditary cancer-predisposing syndrome [RCV001012184]|not provided [RCV004761869] Chr22:28687969 [GRCh38]
Chr22:29083957 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.1573G>C (p.Gly525Arg) single nucleotide variant Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004576977]|Familial cancer of breast [RCV001048735]|Hereditary cancer-predisposing syndrome [RCV001012218] Chr22:28687956 [GRCh38]
Chr22:29083944 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1580C>T (p.Ala527Val) single nucleotide variant Familial cancer of breast [RCV001212142]|Hereditary cancer-predisposing syndrome [RCV001012255] Chr22:28687949 [GRCh38]
Chr22:29083937 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.885A>T (p.Glu295Asp) single nucleotide variant Familial cancer of breast [RCV001059186]|Hereditary cancer-predisposing syndrome [RCV001018415] Chr22:28703528 [GRCh38]
Chr22:29099516 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.*10T>G single nucleotide variant Familial cancer of breast [RCV005245764]|Hereditary cancer-predisposing syndrome [RCV001187187] Chr22:28687887 [GRCh38]
Chr22:29083875 [GRCh37]
Chr22:22q12.1		 benign|uncertain significance
NM_007194.4(CHEK2):c.655_659del (p.Glu219fs) deletion Hereditary cancer-predisposing syndrome [RCV001175711] Chr22:28719419..28719423 [GRCh38]
Chr22:29115407..29115411 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.436A>T (p.Ile146Phe) single nucleotide variant Familial cancer of breast [RCV001875783]|Hereditary cancer-predisposing syndrome [RCV001175728] Chr22:28725251 [GRCh38]
Chr22:29121239 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.679G>C (p.Gly227Arg) single nucleotide variant Familial cancer of breast [RCV001873395]|Hereditary cancer-predisposing syndrome [RCV001025663]|not provided [RCV001759713] Chr22:28719399 [GRCh38]
Chr22:29115387 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-1G>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001025718] Chr22:28712018 [GRCh38]
Chr22:29108006 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.68G>A (p.Gly23Asp) single nucleotide variant Familial cancer of breast [RCV001862342]|Hereditary cancer-predisposing syndrome [RCV001025783] Chr22:28734654 [GRCh38]
Chr22:29130642 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter) single nucleotide variant Familial cancer of breast [RCV003336269]|Hereditary cancer-predisposing syndrome [RCV001025875] Chr22:28712004 [GRCh38]
Chr22:29107992 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.698A>G (p.Glu233Gly) single nucleotide variant Familial cancer of breast [RCV002551942]|Hereditary cancer-predisposing syndrome [RCV001025883]|not provided [RCV001759714] Chr22:28712003 [GRCh38]
Chr22:29107991 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.900T>G (p.Val300=) single nucleotide variant Familial cancer of breast [RCV003607381]|Hereditary cancer-predisposing syndrome [RCV001018638] Chr22:28703513 [GRCh38]
Chr22:29099501 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.909G>T (p.Leu303Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018847] Chr22:28699937 [GRCh38]
Chr22:29095925 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.319+91G>A single nucleotide variant not provided [RCV001714536] Chr22:28734312 [GRCh38]
Chr22:29130300 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1096-394G>C single nucleotide variant not provided [RCV001575276] Chr22:28696267 [GRCh38]
Chr22:29092255 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.183del (p.Ser62fs) deletion Familial cancer of breast [RCV001071257] Chr22:28734539 [GRCh38]
Chr22:29130527 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.592+17A>G single nucleotide variant Familial cancer of breast [RCV002067921]|Hereditary cancer-predisposing syndrome [RCV001181663] Chr22:28724960 [GRCh38]
Chr22:29120948 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.-7+11T>A single nucleotide variant not provided [RCV001713170] Chr22:28741758 [GRCh38]
Chr22:29137746 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.792+325C>G single nucleotide variant not provided [RCV001616906] Chr22:28711584 [GRCh38]
Chr22:29107572 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1134C>G (p.Thr378=) single nucleotide variant Familial cancer of breast [RCV005249464]|Hereditary cancer-predisposing syndrome [RCV001009965] Chr22:28695835 [GRCh38]
Chr22:29091823 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NC_000022.10:g.(?_29083885)_(29621477_?)del deletion Familial cancer of breast [RCV001033041] Chr22:29083885..29621477 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NC_000022.10:g.(?_29083875)_(30090801_?)del deletion Familial cancer of breast [RCV001033149] Chr22:29083875..30090801 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_007194.4(CHEK2):c.945dup (p.Asn316fs) duplication Hereditary cancer-predisposing syndrome [RCV001181895] Chr22:28699900..28699901 [GRCh38]
Chr22:29095888..29095889 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.592+168T>C single nucleotide variant not provided [RCV001714594] Chr22:28724809 [GRCh38]
Chr22:29120797 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1612G>T (p.Val538Leu) single nucleotide variant Familial cancer of breast [RCV001047591] Chr22:28687917 [GRCh38]
Chr22:29083905 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.701_720del (p.Val234fs) deletion Breast carcinoma [RCV001648489] Chr22:28711981..28712000 [GRCh38]
Chr22:29107969..29107988 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1236T>G (p.Ser412Arg) single nucleotide variant Familial cancer of breast [RCV001229098]|Hereditary cancer-predisposing syndrome [RCV001010484] Chr22:28695733 [GRCh38]
Chr22:29091721 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.488A>G (p.His163Arg) single nucleotide variant Familial cancer of breast [RCV001048040]|Hereditary cancer-predisposing syndrome [RCV001190868]|not specified [RCV002307664] Chr22:28725081 [GRCh38]
Chr22:29121069 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.549G>A (p.Leu183=) single nucleotide variant Familial cancer of breast [RCV005093244]|Hereditary cancer-predisposing syndrome [RCV001024177] Chr22:28725020 [GRCh38]
Chr22:29121008 [GRCh37]
Chr22:22q12.1		 benign|likely benign
Single allele insertion Familial cancer of breast [RCV001089844] Chr22:22q12.1 pathogenic
NM_007194.4(CHEK2):c.684-107T>G single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV002225874]|not provided [RCV001611611] Chr22:28712124 [GRCh38]
Chr22:29108112 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.537del (p.Lys179fs) deletion Familial cancer of breast [RCV001036373] Chr22:28725032 [GRCh38]
Chr22:29121020 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1376-258C>T single nucleotide variant not provided [RCV001669637] Chr22:28694375 [GRCh38]
Chr22:28694375..28694376 [GRCh38]
Chr22:29090363 [GRCh37]
Chr22:29090363..29090364 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.922G>C (p.Glu308Gln) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001019056] Chr22:28699924 [GRCh38]
Chr22:29095912 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1018G>A (p.Glu340Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001009687] Chr22:28696978 [GRCh38]
Chr22:29092966 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28709996)_(28712027_?)dup duplication Familial cancer of breast [RCV001031308] Chr22:29105984..29108015 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1259+3A>C single nucleotide variant Familial cancer of breast [RCV001045740] Chr22:28695707 [GRCh38]
Chr22:29091695 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.315T>G (p.Asn105Lys) single nucleotide variant Familial cancer of breast [RCV001070499] Chr22:28734407 [GRCh38]
Chr22:29130395 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1462-97_1462-96insC insertion not provided [RCV001613710] Chr22:28689311..28689312 [GRCh38]
Chr22:29085299..29085300 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.274C>A (p.Pro92Thr) single nucleotide variant Familial cancer of breast [RCV001070634]|Hereditary cancer-predisposing syndrome [RCV003283957] Chr22:28734448 [GRCh38]
Chr22:29130436 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1008+4A>G single nucleotide variant Familial cancer of breast [RCV001343929]|Hereditary cancer-predisposing syndrome [RCV001180951] Chr22:28699834 [GRCh38]
Chr22:29095822 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.928T>G (p.Phe310Val) single nucleotide variant Familial cancer of breast [RCV001207273]|Hereditary cancer-predisposing syndrome [RCV002375145] Chr22:28699918 [GRCh38]
Chr22:29095906 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.431T>A (p.Phe144Tyr) single nucleotide variant Familial cancer of breast [RCV001235567]|Hereditary cancer-predisposing syndrome [RCV005318677] Chr22:28725256 [GRCh38]
Chr22:29121244 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.410G>T (p.Arg137Leu) single nucleotide variant Familial cancer of breast [RCV001218661] Chr22:28725277 [GRCh38]
Chr22:29121265 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1414A>G (p.Lys472Glu) single nucleotide variant Familial cancer of breast [RCV001041566]|Hereditary cancer-predisposing syndrome [RCV003584804]|Hereditary nonpolyposis colon cancer [RCV005359805] Chr22:28694079 [GRCh38]
Chr22:29090067 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375+7A>G single nucleotide variant Familial cancer of breast [RCV001041578] Chr22:28695120 [GRCh38]
Chr22:29091108 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.787G>A (p.Glu263Lys) single nucleotide variant Familial cancer of breast [RCV001058285]|Hereditary cancer-predisposing syndrome [RCV001026906] Chr22:28711914 [GRCh38]
Chr22:29107902 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.790G>T (p.Ala264Ser) single nucleotide variant CHEK2-related cancer predisposition [RCV005359788]|Familial cancer of breast [RCV001060836]|Hereditary cancer-predisposing syndrome [RCV001026945] Chr22:28711911 [GRCh38]
Chr22:29107899 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.361T>C (p.Cys121Arg) single nucleotide variant Familial cancer of breast [RCV001212436] Chr22:28725326 [GRCh38]
Chr22:29121314 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1277C>T (p.Pro426Leu) single nucleotide variant Familial cancer of breast [RCV001068860]|Hereditary cancer-predisposing syndrome [RCV002374987] Chr22:28695225 [GRCh38]
Chr22:29091213 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.495C>T (p.Gly165=) single nucleotide variant Familial cancer of breast [RCV001234809]|Hereditary cancer-predisposing syndrome [RCV003166444] Chr22:28725074 [GRCh38]
Chr22:29121062 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.473C>G (p.Ala158Gly) single nucleotide variant Familial cancer of breast [RCV001218796] Chr22:28725096 [GRCh38]
Chr22:29121084 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.716A>G (p.Glu239Gly) single nucleotide variant Familial cancer of breast [RCV001217510]|Hereditary cancer-predisposing syndrome [RCV003584850] Chr22:28711985 [GRCh38]
Chr22:29107973 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.451G>A (p.Gly151Ser) single nucleotide variant Familial cancer of breast [RCV001237132]|Hereditary cancer-predisposing syndrome [RCV002339655] Chr22:28725118 [GRCh38]
Chr22:29121106 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.826A>G (p.Ile276Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001027343] Chr22:28710026 [GRCh38]
Chr22:29106014 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.653A>G (p.Asp218Gly) single nucleotide variant Familial cancer of breast [RCV001235937] Chr22:28719425 [GRCh38]
Chr22:29115413 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1163C>T (p.Pro388Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001010063] Chr22:28695806 [GRCh38]
Chr22:29091794 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1215C>T (p.Asn405=) single nucleotide variant Familial cancer of breast [RCV003500615]|Hereditary cancer-predisposing syndrome [RCV001010332] Chr22:28695754 [GRCh38]
Chr22:29091742 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter) duplication Familial cancer of breast [RCV001205283]|Hereditary cancer-predisposing syndrome [RCV002379777] Chr22:28695211..28695212 [GRCh38]
Chr22:29091199..29091200 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.592G>A (p.Val198Ile) single nucleotide variant Familial cancer of breast [RCV001216454]|Hereditary cancer-predisposing syndrome [RCV002356921] Chr22:28724977 [GRCh38]
Chr22:29120965 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1411C>A (p.Pro471Thr) single nucleotide variant Familial cancer of breast [RCV001212703] Chr22:28694082 [GRCh38]
Chr22:29090070 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.803_804del (p.Leu268fs) microsatellite Familial cancer of breast [RCV001213522] Chr22:28710048..28710049 [GRCh38]
Chr22:29106036..29106037 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1118dup (p.Ile374fs) duplication Familial cancer of breast [RCV001057755] Chr22:28695850..28695851 [GRCh38]
Chr22:29091838..29091839 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.170C>G (p.Ser57Cys) single nucleotide variant Familial cancer of breast [RCV001057805]|Hereditary cancer-predisposing syndrome [RCV002400330] Chr22:28734552 [GRCh38]
Chr22:29130540 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1034A>G (p.His345Arg) single nucleotide variant Familial cancer of breast [RCV001061568]|Hereditary cancer-predisposing syndrome [RCV003160497] Chr22:28696962 [GRCh38]
Chr22:29092950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1284T>G (p.Ser428=) single nucleotide variant Familial cancer of breast [RCV005249475]|Hereditary cancer-predisposing syndrome [RCV001010752] Chr22:28695218 [GRCh38]
Chr22:29091206 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.-39C>G single nucleotide variant CHEK2-related cancer predisposition [RCV005414567] Chr22:28741801 [GRCh38]
Chr22:29137789 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.551A>G (p.Asn184Ser) single nucleotide variant Familial cancer of breast [RCV003607390]|Hereditary cancer-predisposing syndrome [RCV001024212] Chr22:28725018 [GRCh38]
Chr22:29121006 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.963del (p.Ala322fs) deletion Familial cancer of breast [RCV001233990]|Hereditary cancer-predisposing syndrome [RCV002379891] Chr22:28699883 [GRCh38]
Chr22:29095871 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.654T>G (p.Asp218Glu) single nucleotide variant Familial cancer of breast [RCV001294341]|Hereditary cancer-predisposing syndrome [RCV001181297] Chr22:28719424 [GRCh38]
Chr22:29115412 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.680G>A (p.Gly227Glu) single nucleotide variant CHEK2-related cancer predisposition [RCV005367694]|Familial cancer of breast [RCV001058130]|Hereditary cancer-predisposing syndrome [RCV003380827]|not provided [RCV001593232] Chr22:28719398 [GRCh38]
Chr22:29115386 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1344del (p.Pro449fs) deletion Familial cancer of breast [RCV001385373]|Hereditary cancer-predisposing syndrome [RCV001010972] Chr22:28695158 [GRCh38]
Chr22:29091146 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.567T>C (p.Ile189=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024402] Chr22:28725002 [GRCh38]
Chr22:29120990 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.568_569delinsAA (p.Ala190Lys) indel Hereditary cancer-predisposing syndrome [RCV001024404] Chr22:28725000..28725001 [GRCh38]
Chr22:29120988..29120989 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1334dup (p.Tyr445Ter) duplication Familial cancer of breast [RCV001860659]|Hereditary cancer-predisposing syndrome [RCV001011109] Chr22:28695167..28695168 [GRCh38]
Chr22:29091155..29091156 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1375+1G>C single nucleotide variant Familial cancer of breast [RCV001035082]|Hereditary cancer-predisposing syndrome [RCV001011222] Chr22:28695126 [GRCh38]
Chr22:29091114 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1376-3T>C single nucleotide variant Familial cancer of breast [RCV005093069]|Hereditary cancer-predisposing syndrome [RCV001011226] Chr22:28694120 [GRCh38]
Chr22:29090108 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.211C>T (p.Leu71Phe) single nucleotide variant Familial cancer of breast [RCV001219213]|Hereditary cancer-predisposing syndrome [RCV002418753] Chr22:28734511 [GRCh38]
Chr22:29130499 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687897)_(28734725_?)dup duplication Familial cancer of breast [RCV001033012] Chr22:29083885..29130713 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.948del (p.Asn316fs) deletion Familial cancer of breast [RCV001051734] Chr22:28699898 [GRCh38]
Chr22:29095886 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1354T>G (p.Trp452Gly) single nucleotide variant Familial cancer of breast [RCV001233355] Chr22:28695148 [GRCh38]
Chr22:29091136 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+1G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024686] Chr22:28724976 [GRCh38]
Chr22:29120964 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1395G>A (p.Lys465=) single nucleotide variant Familial cancer of breast [RCV002551741]|Hereditary cancer-predisposing syndrome [RCV001011320] Chr22:28694098 [GRCh38]
Chr22:29090086 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1397T>A (p.Leu466Ter) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011358] Chr22:28694096 [GRCh38]
Chr22:29090084 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.13T>C (p.Ser5Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011376] Chr22:28734709 [GRCh38]
Chr22:29130697 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1425T>C (p.Phe475=) single nucleotide variant Familial cancer of breast [RCV003607369]|Hereditary cancer-predisposing syndrome [RCV001011484]|not provided [RCV004998531] Chr22:28694068 [GRCh38]
Chr22:29090056 [GRCh37]
Chr22:22q12.1		 benign|likely benign|uncertain significance
NM_007194.4(CHEK2):c.1464T>C (p.Asp488=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011525] Chr22:28689213 [GRCh38]
Chr22:29085201 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.871T>A (p.Phe291Ile) single nucleotide variant CHEK2-related disorder [RCV004545107]|Familial cancer of breast [RCV002559024]|Hereditary cancer-predisposing syndrome [RCV001182382] Chr22:28703542 [GRCh38]
Chr22:29099530 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.792+2T>G single nucleotide variant Familial cancer of breast [RCV001215075]|Hereditary cancer-predisposing syndrome [RCV004950355] Chr22:28711907 [GRCh38]
Chr22:29107895 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.902T>C (p.Leu301Ser) single nucleotide variant Familial cancer of breast [RCV001206087]|Hereditary cancer-predisposing syndrome [RCV005318644] Chr22:28703511 [GRCh38]
Chr22:29099499 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.761G>A (p.Arg254Lys) single nucleotide variant Familial cancer of breast [RCV001248253] Chr22:28711940 [GRCh38]
Chr22:29107928 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1400del (p.Leu467fs) deletion Familial cancer of breast [RCV001217885]|Hereditary cancer-predisposing syndrome [RCV004034048] Chr22:28694093 [GRCh38]
Chr22:29090081 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1149C>G (p.Thr383=) single nucleotide variant Familial cancer of breast [RCV003607407]|Hereditary cancer-predisposing syndrome [RCV001180651] Chr22:28695820 [GRCh38]
Chr22:29091808 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.352G>T (p.Asp118Tyr) single nucleotide variant Familial cancer of breast [RCV001047768] Chr22:28725335 [GRCh38]
Chr22:29121323 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.989del (p.Gln330fs) deletion Familial cancer of breast [RCV001058838] Chr22:28699857 [GRCh38]
Chr22:29095845 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs) duplication Familial cancer of breast [RCV002551747]|Hereditary breast ovarian cancer syndrome [RCV001030620]|Hereditary cancer-predisposing syndrome [RCV001011667] Chr22:28694037..28694038 [GRCh38]
Chr22:29090025..29090026 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1482G>T (p.Lys494Asn) single nucleotide variant Familial cancer of breast [RCV001059466]|Hereditary cancer-predisposing syndrome [RCV001011815] Chr22:28689195 [GRCh38]
Chr22:29085183 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+4A>T single nucleotide variant Familial cancer of breast [RCV001232538] Chr22:28724973 [GRCh38]
Chr22:29120961 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1385T>C (p.Leu462Pro) single nucleotide variant Familial cancer of breast [RCV001218106] Chr22:28694108 [GRCh38]
Chr22:29090096 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1168T>A (p.Tyr390Asn) single nucleotide variant Familial cancer of breast [RCV001232222]|Hereditary cancer-predisposing syndrome [RCV002327556] Chr22:28695801 [GRCh38]
Chr22:29091789 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.44G>T (p.Ser15Ile) single nucleotide variant Familial cancer of breast [RCV001232288] Chr22:28734678 [GRCh38]
Chr22:29130666 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.496A>C (p.Asn166His) single nucleotide variant Familial cancer of breast [RCV001203911] Chr22:28725073 [GRCh38]
Chr22:29121061 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28687887)_(28699947_?)dup duplication Familial cancer of breast [RCV001033584] Chr22:29083875..29095935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.154T>A (p.Ser52Thr) single nucleotide variant Familial cancer of breast [RCV001058867] Chr22:28734568 [GRCh38]
Chr22:29130556 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.636T>G (p.Tyr212Ter) single nucleotide variant Familial cancer of breast [RCV001233646] Chr22:28719442 [GRCh38]
Chr22:29115430 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1502A>T (p.Glu501Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011922] Chr22:28689175 [GRCh38]
Chr22:29085163 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1503G>T (p.Glu501Asp) single nucleotide variant Familial cancer of breast [RCV003769449]|Hereditary cancer-predisposing syndrome [RCV001011932]|not specified [RCV005418953] Chr22:28689174 [GRCh38]
Chr22:29085162 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1547C>G (p.Ser516Cys) single nucleotide variant Familial cancer of breast [RCV001860691]|Hereditary cancer-predisposing syndrome [RCV001012053] Chr22:28687982 [GRCh38]
Chr22:29083970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1543-2A>C single nucleotide variant Familial cancer of breast [RCV001862785]|Hereditary cancer-predisposing syndrome [RCV001012114] Chr22:28687988 [GRCh38]
Chr22:29083976 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.65A>G (p.His22Arg) single nucleotide variant Familial cancer of breast [RCV002551926]|Hereditary cancer-predisposing syndrome [RCV001025440] Chr22:28734657 [GRCh38]
Chr22:29130645 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.665T>A (p.Met222Lys) single nucleotide variant CHEK2-related cancer predisposition [RCV001832360]|Familial cancer of breast [RCV001365086]|Hereditary cancer-predisposing syndrome [RCV001025506]|not provided [RCV001759916] Chr22:28719413 [GRCh38]
Chr22:29115401 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1583A>G (p.Glu528Gly) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012265]|Predisposition to cancer [RCV003444741] Chr22:28687946 [GRCh38]
Chr22:29083934 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1451C>G (p.Pro484Arg) single nucleotide variant Familial cancer of breast [RCV001215460] Chr22:28694042 [GRCh38]
Chr22:29090030 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.883G>C (p.Glu295Gln) single nucleotide variant Familial cancer of breast [RCV001040869] Chr22:28703530 [GRCh38]
Chr22:29099518 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.354C>A (p.Asp118Glu) single nucleotide variant Familial cancer of breast [RCV001230704]|Hereditary cancer-predisposing syndrome [RCV001526004] Chr22:28725333 [GRCh38]
Chr22:29121321 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.673del (p.Thr225fs) deletion Familial cancer of breast [RCV001862334]|Hereditary cancer-predisposing syndrome [RCV001025596] Chr22:28719405 [GRCh38]
Chr22:29115393 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1607C>G (p.Pro536Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012354] Chr22:28687922 [GRCh38]
Chr22:29083910 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1618G>T (p.Ala540Ser) single nucleotide variant CHEK2-related disorder [RCV004738118]|Familial cancer of breast [RCV001062056]|Hereditary cancer-predisposing syndrome [RCV001012437]|not provided [RCV001576484] Chr22:28687911 [GRCh38]
Chr22:29083899 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1620T>G (p.Ala540=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012438] Chr22:28687909 [GRCh38]
Chr22:29083897 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.682A>G (p.Ser228Gly) single nucleotide variant Familial cancer of breast [RCV001873397]|Hereditary cancer-predisposing syndrome [RCV001025699]|not provided [RCV001567001] Chr22:28719396 [GRCh38]
Chr22:29115384 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.161A>C (p.His54Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012456] Chr22:28734561 [GRCh38]
Chr22:29130549 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.696dup (p.Glu233fs) duplication Familial cancer of breast [RCV001042297]|Hereditary cancer-predisposing syndrome [RCV001025853]|not provided [RCV004697026] Chr22:28712004..28712005 [GRCh38]
Chr22:29107992..29107993 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1627T>G (p.Leu543Val) single nucleotide variant Familial cancer of breast [RCV001216533] Chr22:28687902 [GRCh38]
Chr22:29083890 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.808G>A (p.Val270Ile) single nucleotide variant Familial cancer of breast [RCV001041102] Chr22:28710044 [GRCh38]
Chr22:29106032 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs) microsatellite Familial cancer of breast [RCV001219588]|Hereditary cancer-predisposing syndrome [RCV004950365] Chr22:28695130..28695131 [GRCh38]
Chr22:29091118..29091119 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.688G>A (p.Ala230Thr) single nucleotide variant Familial cancer of breast [RCV001059613] Chr22:28712013 [GRCh38]
Chr22:29108001 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.750C>T (p.Ile250=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026515] Chr22:28711951 [GRCh38]
Chr22:29107939 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.993G>C (p.Met331Ile) single nucleotide variant Familial cancer of breast [RCV001053899] Chr22:28699853 [GRCh38]
Chr22:29095841 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1135T>G (p.Ser379Ala) single nucleotide variant Familial cancer of breast [RCV001053959] Chr22:28695834 [GRCh38]
Chr22:29091822 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.792+5G>C single nucleotide variant Familial cancer of breast [RCV001862391]|Hereditary cancer-predisposing syndrome [RCV001026958] Chr22:28711904 [GRCh38]
Chr22:29107892 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.684-5_684-2delinsC indel Familial cancer of breast [RCV001247124] Chr22:28712019..28712022 [GRCh38]
Chr22:29108007..29108010 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.468C>G (p.Tyr156Ter) single nucleotide variant Breast cancer, susceptibility to [RCV001258053]|Familial cancer of breast [RCV001054096]|Hereditary cancer-predisposing syndrome [RCV004031699] Chr22:28725101 [GRCh38]
Chr22:29121089 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.392A>T (p.Lys131Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001182109] Chr22:28725295 [GRCh38]
Chr22:29121283 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.796C>A (p.Pro266Thr) single nucleotide variant CHEK2-related disorder [RCV004536055]|Familial cancer of breast [RCV001349684]|Familial cancer of breast [RCV002481838]|Hereditary cancer-predisposing syndrome [RCV001027013] Chr22:28710056 [GRCh38]
Chr22:29106044 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.195A>C (p.Thr65=) single nucleotide variant Familial cancer of breast [RCV003769462]|Hereditary cancer-predisposing syndrome [RCV001013846]|not provided [RCV001800922] Chr22:28734527 [GRCh38]
Chr22:29130515 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.19G>A (p.Val7Ile) single nucleotide variant Familial cancer of breast [RCV002550789]|Hereditary cancer-predisposing syndrome [RCV001014002] Chr22:28734703 [GRCh38]
Chr22:29130691 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.376G>T (p.Asp126Tyr) single nucleotide variant Familial cancer of breast [RCV001051116]|Hereditary cancer-predisposing syndrome [RCV001021092] Chr22:28725311 [GRCh38]
Chr22:29121299 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.827T>C (p.Ile276Thr) single nucleotide variant Familial cancer of breast [RCV001313367]|Hereditary cancer-predisposing syndrome [RCV001027362] Chr22:28710025 [GRCh38]
Chr22:29106013 [GRCh37]
Chr22:22q12.1		 uncertain significance
Single allele insertion Familial cancer of breast [RCV001089817] Chr22:22q12.1 pathogenic
NM_007194.4(CHEK2):c.514dup (p.Thr172fs) duplication Familial cancer of breast [RCV003336262]|Hereditary cancer-predisposing syndrome [RCV001023616] Chr22:28725054..28725055 [GRCh38]
Chr22:29121042..29121043 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1207G>A (p.Gly403Arg) single nucleotide variant CHEK2-related cancer predisposition [RCV005359747]|Familial cancer of breast [RCV001048118]|Hereditary cancer-predisposing syndrome [RCV001010308] Chr22:28695762 [GRCh38]
Chr22:29091750 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.321_324del (p.Glu107_Cys108insTer) deletion Familial cancer of breast [RCV001201720]|Hereditary cancer-predisposing syndrome [RCV002321999] Chr22:28725363..28725366 [GRCh38]
Chr22:29121351..29121354 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.525A>G (p.Val175=) single nucleotide variant Familial cancer of breast [RCV005245690]|Hereditary cancer-predisposing syndrome [RCV001023810] Chr22:28725044 [GRCh38]
Chr22:29121032 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter) single nucleotide variant Familial cancer of breast [RCV003336227]|Hereditary breast ovarian cancer syndrome [RCV004702576]|Hereditary cancer-predisposing syndrome [RCV001010166] Chr22:28695789 [GRCh38]
Chr22:29091777 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.805A>G (p.Asn269Asp) single nucleotide variant Familial cancer of breast [RCV003770044]|Hereditary cancer-predisposing syndrome [RCV001184367] Chr22:28710047 [GRCh38]
Chr22:29106035 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.608A>T (p.Asp203Val) single nucleotide variant Familial cancer of breast [RCV001230411]|Hereditary cancer-predisposing syndrome [RCV002356989] Chr22:28719470 [GRCh38]
Chr22:29115458 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.995del (p.Leu332fs) deletion Familial cancer of breast [RCV001051229] Chr22:28699851 [GRCh38]
Chr22:29095839 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.197T>C (p.Val66Ala) single nucleotide variant Familial cancer of breast [RCV001040966]|Hereditary cancer-predisposing syndrome [RCV004609582] Chr22:28734525 [GRCh38]
Chr22:29130513 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1157G>T (p.Gly386Val) single nucleotide variant Familial cancer of breast [RCV001371260]|Hereditary cancer-predisposing syndrome [RCV001177706] Chr22:28695812 [GRCh38]
Chr22:29091800 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.360del (p.Cys121fs) deletion Familial cancer of breast [RCV001381969]|Hereditary cancer-predisposing syndrome [RCV001020716] Chr22:28725327 [GRCh38]
Chr22:29121315 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.530A>C (p.Lys177Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001023896] Chr22:28725039 [GRCh38]
Chr22:29121027 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1267G>A (p.Gly423Arg) single nucleotide variant Familial cancer of breast [RCV001860646]|Hereditary cancer-predisposing syndrome [RCV001010661] Chr22:28695235 [GRCh38]
Chr22:29091223 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.253C>T (p.Pro85Ser) single nucleotide variant Familial cancer of breast [RCV002551786]|Hereditary cancer-predisposing syndrome [RCV001015877] Chr22:28734469 [GRCh38]
Chr22:29130457 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1543-1G>A single nucleotide variant Familial cancer of breast [RCV001037160] Chr22:28687987 [GRCh38]
Chr22:29083975 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1375+10T>C single nucleotide variant Familial cancer of breast [RCV005245782]|not specified [RCV001193085] Chr22:28695117 [GRCh38]
Chr22:29091105 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.266C>T (p.Thr89Ile) single nucleotide variant Familial cancer of breast [RCV001294682]|Hereditary cancer-predisposing syndrome [RCV001016263] Chr22:28734456 [GRCh38]
Chr22:29130444 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs) deletion Familial cancer of breast [RCV001228231]|Hereditary cancer-predisposing syndrome [RCV002356970] Chr22:28695750..28695759 [GRCh38]
Chr22:29091738..29091747 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.792+2T>A single nucleotide variant Familial cancer of breast [RCV001215376]|Ovarian carcinoma [RCV001644952] Chr22:28711907 [GRCh38]
Chr22:29107895 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1056T>C (p.Asn352=) single nucleotide variant Familial cancer of breast [RCV005056763]|Hereditary cancer-predisposing syndrome [RCV001017159] Chr22:28696940 [GRCh38]
Chr22:29092928 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1083C>G (p.Asp361Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001017229] Chr22:28696913 [GRCh38]
Chr22:29092901 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1360_1361del (p.Glu454fs) deletion Familial cancer of breast [RCV001210845] Chr22:28695141..28695142 [GRCh38]
Chr22:29091129..29091130 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.291G>A (p.Trp97Ter) single nucleotide variant Familial cancer of breast [RCV001037472]|Hereditary cancer-predisposing syndrome [RCV002434437]|not provided [RCV001090274] Chr22:28734431 [GRCh38]
Chr22:29130419 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1548_1565del (p.Thr517_Pro522del) deletion Familial cancer of breast [RCV001216181] Chr22:28687964..28687981 [GRCh38]
Chr22:29083952..29083969 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.370T>C (p.Cys124Arg) single nucleotide variant Familial cancer of breast [RCV001205146] Chr22:28725317 [GRCh38]
Chr22:29121305 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.568_569insACCTTTGAATAACAATTCTGAAATTG (p.Ala190delinsAspLeuTer) insertion Hereditary cancer-predisposing syndrome [RCV001024405] Chr22:28725000..28725001 [GRCh38]
Chr22:29120988..29120989 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.570A>G (p.Ala190=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024440] Chr22:28724999 [GRCh38]
Chr22:29120987 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.57A>G (p.Ser19=) single nucleotide variant Familial cancer of breast [RCV005245691]|Hereditary cancer-predisposing syndrome [RCV001024544] Chr22:28734665 [GRCh38]
Chr22:29130653 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.135G>C (p.Thr45=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011172] Chr22:28734587 [GRCh38]
Chr22:29130575 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1376-4T>G single nucleotide variant Familial cancer of breast [RCV001438351]|Hereditary cancer-predisposing syndrome [RCV001011227] Chr22:28694121 [GRCh38]
Chr22:29090109 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.592+2T>C single nucleotide variant Familial cancer of breast [RCV003155963]|Hereditary cancer-predisposing syndrome [RCV001024687]|not provided [RCV002466607] Chr22:28724975 [GRCh38]
Chr22:29120963 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1112A>C (p.His371Pro) single nucleotide variant Familial cancer of breast [RCV001860862]|Hereditary cancer-predisposing syndrome [RCV001017360] Chr22:28695857 [GRCh38]
Chr22:29091845 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala) single nucleotide variant Familial cancer of breast [RCV003336249]|Hereditary cancer-predisposing syndrome [RCV001017462]|Malignant tumor of breast [RCV001355097] Chr22:28695822 [GRCh38]
Chr22:29091810 [GRCh37]
Chr22:22q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.295del (p.Leu99fs) deletion Familial cancer of breast [RCV003500628]|Hereditary cancer-predisposing syndrome [RCV001017671] Chr22:28734427 [GRCh38]
Chr22:29130415 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.763A>T (p.Lys255Ter) single nucleotide variant Familial cancer of breast [RCV001056400] Chr22:28711938 [GRCh38]
Chr22:29107926 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.5C>T (p.Ser2Phe) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024783]|not provided [RCV003117702] Chr22:28734717 [GRCh38]
Chr22:29130705 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1406T>A (p.Val469Glu) single nucleotide variant CHEK2-related cancer predisposition [RCV005029570]|Familial cancer of breast [RCV001044863]|Hereditary cancer-predisposing syndrome [RCV001011413] Chr22:28694087 [GRCh38]
Chr22:29090075 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.617T>C (p.Val206Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001024973] Chr22:28719461 [GRCh38]
Chr22:29115449 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1455G>T (p.Trp485Cys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001011668] Chr22:28694038 [GRCh38]
Chr22:29090026 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.845A>G (p.His282Arg) single nucleotide variant CHEK2-related cancer predisposition [RCV005367671]|Familial cancer of breast [RCV005093162]|Hereditary cancer-predisposing syndrome [RCV001017835] Chr22:28710007 [GRCh38]
Chr22:29105995 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846T>C (p.His282=) single nucleotide variant Familial cancer of breast [RCV001036740]|Hereditary breast ovarian cancer syndrome [RCV004689958]|Hereditary cancer-predisposing syndrome [RCV001017853] Chr22:28710006 [GRCh38]
Chr22:29105994 [GRCh37]
Chr22:22q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.847-2A>G single nucleotide variant Familial cancer of breast [RCV001860880]|Gastric cancer [RCV003160178]|Hereditary cancer-predisposing syndrome [RCV001017857] Chr22:28703568 [GRCh38]
Chr22:29099556 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.234_262del (p.Gln78fs) deletion Familial cancer of breast [RCV001042203] Chr22:28734460..28734488 [GRCh38]
Chr22:29130448..29130476 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs) deletion Familial cancer of breast [RCV001042204] Chr22:28734527..28734528 [GRCh38]
Chr22:29130515..29130516 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.792+5_792+7del deletion Familial cancer of breast [RCV001214354] Chr22:28711902..28711904 [GRCh38]
Chr22:29107890..29107892 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1096-10T>G single nucleotide variant Familial cancer of breast [RCV001062949] Chr22:28695883 [GRCh38]
Chr22:29091871 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1016A>C (p.His339Pro) single nucleotide variant Familial cancer of breast [RCV001233064] Chr22:28696980 [GRCh38]
Chr22:29092968 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1486C>G (p.Gln496Glu) single nucleotide variant Familial cancer of breast [RCV002549351]|Hereditary cancer-predisposing syndrome [RCV001011821] Chr22:28689191 [GRCh38]
Chr22:29085179 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.638C>A (p.Pro213His) single nucleotide variant Familial cancer of breast [RCV001070326]|Hereditary cancer-predisposing syndrome [RCV001025208] Chr22:28719440 [GRCh38]
Chr22:29115428 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1504G>A (p.Glu502Lys) single nucleotide variant Familial cancer of breast [RCV003607370]|Hereditary cancer-predisposing syndrome [RCV001011937] Chr22:28689173 [GRCh38]
Chr22:29085161 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1529A>G (p.Gln510Arg) single nucleotide variant Familial cancer of breast [RCV001045631]|Hereditary cancer-predisposing syndrome [RCV001012026] Chr22:28689148 [GRCh38]
Chr22:29085136 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.874T>C (p.Phe292Leu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018275] Chr22:28703539 [GRCh38]
Chr22:29099527 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.878A>G (p.Asp293Gly) single nucleotide variant Familial cancer of breast [RCV001302605]|Hereditary cancer-predisposing syndrome [RCV001018320] Chr22:28703535 [GRCh38]
Chr22:29099523 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(?_28689125)_(28696997_?)del deletion Familial cancer of breast [RCV001033716] Chr22:29085113..29092985 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.793-10T>C single nucleotide variant Familial cancer of breast [RCV001232478] Chr22:28710069 [GRCh38]
Chr22:29106057 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.89G>A (p.Gly30Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001018620] Chr22:28734633 [GRCh38]
Chr22:29130621 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.905A>G (p.Glu302Gly) single nucleotide variant CHEK2-related cancer predisposition [RCV004720037]|Hereditary cancer-predisposing syndrome [RCV001018730] Chr22:28703508 [GRCh38]
Chr22:29099496 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+2T>C single nucleotide variant Familial cancer of breast [RCV001239956]|Hereditary breast ovarian cancer syndrome [RCV002298833]|Hereditary cancer-predisposing syndrome [RCV001018803] Chr22:28703503 [GRCh38]
Chr22:29099491 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.908+3A>T single nucleotide variant Familial cancer of breast [RCV001059485]|Hereditary cancer-predisposing syndrome [RCV001018804] Chr22:28703502 [GRCh38]
Chr22:29099490 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1462G>T (p.Asp488Tyr) single nucleotide variant Familial cancer of breast [RCV001057173] Chr22:28689215 [GRCh38]
Chr22:29085203 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.659_662del (p.Tyr220fs) deletion Familial cancer of breast [RCV001042829] Chr22:28719416..28719419 [GRCh38]
Chr22:29115404..29115407 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer) deletion Familial cancer of breast [RCV001233283]|Hereditary cancer-predisposing syndrome [RCV004951391] Chr22:28711965..28711968 [GRCh38]
Chr22:29107953..29107956 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.683G>A (p.Ser228Asn) single nucleotide variant CHEK2-related cancer predisposition [RCV004527409]|Familial cancer of breast [RCV001873398]|Hereditary breast ovarian cancer syndrome [RCV001030686]|Hereditary cancer-predisposing syndrome [RCV001025715]|not provided [RCV001759918] Chr22:28719395 [GRCh38]
Chr22:29115383 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer) deletion Familial cancer of breast [RCV001052673]|Hereditary cancer-predisposing syndrome [RCV002379556] Chr22:28711974..28711975 [GRCh38]
Chr22:29107962..29107963 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.842dup (p.Asn281fs) duplication Familial cancer of breast [RCV001215561] Chr22:28710009..28710010 [GRCh38]
Chr22:29105997..29105998 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.159_160del (p.His54fs) microsatellite Familial cancer of breast [RCV001063646]|Hereditary cancer-predisposing syndrome [RCV003160521] Chr22:28734562..28734563 [GRCh38]
Chr22:29130550..29130551 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.267_268insT (p.Pro90fs) insertion Familial cancer of breast [RCV001229416] Chr22:28734454..28734455 [GRCh38]
Chr22:29130442..29130443 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.16G>T (p.Asp6Tyr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001012797] Chr22:28734706 [GRCh38]
Chr22:29130694 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.719G>A (p.Arg240Lys) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001026142] Chr22:28711982 [GRCh38]
Chr22:29107970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter) single nucleotide variant Familial cancer of breast [RCV001228603]|Hereditary cancer-predisposing syndrome [RCV002356973] Chr22:28725296 [GRCh38]
Chr22:29121284 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.335ACT[1] (p.Tyr113del) microsatellite Familial cancer of breast [RCV005093194]|Hereditary cancer-predisposing syndrome [RCV001020145] Chr22:28725347..28725349 [GRCh38]
Chr22:29121335..29121337 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.11:g.(29091862_29092888)_(29095926_29099492)del deletion Hereditary breast and ovarian cancer syndrome [RCV001254854] Chr22:29092888..29095926 [GRCh38]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.511_512delinsGGTTCCATCC (p.Asn171fs) indel Familial cancer of breast [RCV001253118] Chr22:28725057..28725058 [GRCh38]
Chr22:29121045..29121046 [GRCh37]
Chr22:22q12.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_007194.4(CHEK2):c.419G>T (p.Ser140Ile) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607845] Chr22:28725268 [GRCh38]
Chr22:29121256 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.326_341del (p.Val109fs) deletion Hereditary cancer-predisposing syndrome [RCV004607851] Chr22:28725346..28725361 [GRCh38]
Chr22:29121334..29121349 [GRCh37]
Chr22:22q12.1		 pathogenic
GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1 copy number loss not provided [RCV001258778] Chr22:28291202..30450920 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_007194.4(CHEK2):c.1074AGA[1] (p.Glu360del) microsatellite Familial cancer of breast [RCV005102136]|Hereditary cancer-predisposing syndrome [RCV004607830] Chr22:28696917..28696919 [GRCh38]
Chr22:29092905..29092907 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1377del (p.Leu460fs) deletion Hereditary cancer-predisposing syndrome [RCV004607834] Chr22:28694116 [GRCh38]
Chr22:29090104 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1341_1342insTGT (p.Phe447_Ile448insCys) insertion Hereditary cancer-predisposing syndrome [RCV004607836] Chr22:28695160..28695161 [GRCh38]
Chr22:29091148..29091149 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.195_198del (p.Val66fs) deletion Hereditary cancer-predisposing syndrome [RCV004607837] Chr22:28734524..28734527 [GRCh38]
Chr22:29130512..29130515 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1543-18A>G single nucleotide variant Familial cancer of breast [RCV005246099] Chr22:28688004 [GRCh38]
Chr22:29083992 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1147A>C (p.Thr383Pro) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607839] Chr22:28695822 [GRCh38]
Chr22:29091810 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.773T>C (p.Ile258Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607841] Chr22:28711928 [GRCh38]
Chr22:29107916 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1317G>A (p.Gln439=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607829] Chr22:28695185 [GRCh38]
Chr22:29091173 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.992del (p.Met331fs) deletion Hereditary cancer-predisposing syndrome [RCV004607832] Chr22:28699854 [GRCh38]
Chr22:29095842 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1260-12_1262dup duplication Hereditary cancer-predisposing syndrome [RCV004607850] Chr22:28695239..28695240 [GRCh38]
Chr22:29091227..29091228 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.490A>T (p.Ser164Cys) single nucleotide variant Familial cancer of breast [RCV001303118] Chr22:28725079 [GRCh38]
Chr22:29121067 [GRCh37]
Chr22:22q12.1		 uncertain significance
Single allele deletion not provided [RCV001257921] Chr22:27963416..29132458 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.11:g.(28695874_28696900)_(28699938_28703504)del deletion Hereditary breast ovarian cancer syndrome [RCV001261473] Chr22:29092888..29095926 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1227CTG[1] (p.Cys410del) microsatellite Familial cancer of breast [RCV001257501] Chr22:28695737..28695739 [GRCh38]
Chr22:29091725..29091727 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-6-190C>G single nucleotide variant not provided [RCV001528090] Chr22:28734917 [GRCh38]
Chr22:29130905 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.718A>G (p.Arg240Gly) single nucleotide variant Familial cancer of breast [RCV001319538] Chr22:28711983 [GRCh38]
Chr22:29107971 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.916G>C (p.Gly306Arg) single nucleotide variant Familial cancer of breast [RCV001314079]|Hereditary cancer-predisposing syndrome [RCV005318733] Chr22:28699930 [GRCh38]
Chr22:29095918 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.601T>A (p.Phe201Ile) single nucleotide variant Familial cancer of breast [RCV001338144] Chr22:28719477 [GRCh38]
Chr22:29115465 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.183C>A (p.Ser61Arg) single nucleotide variant Familial cancer of breast [RCV001298011]|Hereditary cancer-predisposing syndrome [RCV004951457] Chr22:28734539 [GRCh38]
Chr22:29130527 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083875)_(29095935_?)dup duplication Familial cancer of breast [RCV001305102] Chr22:29083875..29095935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1517C>G (p.Thr506Arg) single nucleotide variant Familial cancer of breast [RCV001307026] Chr22:28689160 [GRCh38]
Chr22:29085148 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1414A>C (p.Lys472Gln) single nucleotide variant Familial cancer of breast [RCV001342043] Chr22:28694079 [GRCh38]
Chr22:29090067 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083885)_(29108015_?)dup duplication Familial cancer of breast [RCV001320084] Chr22:29083885..29108015 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29092879)_(29092985_?)del deletion Familial cancer of breast [RCV001305100] Chr22:29092879..29092985 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1381G>C (p.Asp461His) single nucleotide variant Familial cancer of breast [RCV001301780]|Hereditary cancer-predisposing syndrome [RCV002384361] Chr22:28694112 [GRCh38]
Chr22:29090100 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.68G>C (p.Gly23Ala) single nucleotide variant Familial cancer of breast [RCV001342356] Chr22:28734654 [GRCh38]
Chr22:29130642 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1544C>T (p.Pro515Leu) single nucleotide variant Familial cancer of breast [RCV001338493] Chr22:28687985 [GRCh38]
Chr22:29083973 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1214A>T (p.Asn405Ile) single nucleotide variant Familial cancer of breast [RCV001317140] Chr22:28695755 [GRCh38]
Chr22:29091743 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1256T>G (p.Ile419Ser) single nucleotide variant Familial cancer of breast [RCV001296299]|not specified [RCV003320485] Chr22:28695713 [GRCh38]
Chr22:29091701 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1157G>C (p.Gly386Ala) single nucleotide variant Familial cancer of breast [RCV001351765] Chr22:28695812 [GRCh38]
Chr22:29091800 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.279G>T (p.Trp93Cys) single nucleotide variant Familial cancer of breast [RCV001349109]|Hereditary cancer-predisposing syndrome [RCV002438810] Chr22:28734443 [GRCh38]
Chr22:29130431 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.982T>C (p.Phe328Leu) single nucleotide variant Familial cancer of breast [RCV001303112] Chr22:28699864 [GRCh38]
Chr22:29095852 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.727T>G (p.Cys243Gly) single nucleotide variant Familial cancer of breast [RCV001318218]|Hereditary cancer-predisposing syndrome [RCV003166840]|not provided [RCV001751611] Chr22:28711974 [GRCh38]
Chr22:29107962 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1097T>G (p.Ile366Ser) single nucleotide variant Familial cancer of breast [RCV001296798] Chr22:28695872 [GRCh38]
Chr22:29091860 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1385T>A (p.Leu462His) single nucleotide variant Familial cancer of breast [RCV001295664] Chr22:28694108 [GRCh38]
Chr22:29090096 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.683+4A>C single nucleotide variant Familial cancer of breast [RCV001350705] Chr22:28719391 [GRCh38]
Chr22:29115379 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1544C>A (p.Pro515His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004610284] Chr22:28687985 [GRCh38]
Chr22:29083973 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1182A>G (p.Glu394=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004610293] Chr22:28695787 [GRCh38]
Chr22:29091775 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.466T>A (p.Tyr156Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004610294] Chr22:28725103 [GRCh38]
Chr22:29121091 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.548del (p.Pro182_Leu183insTer) deletion Familial cancer of breast [RCV001383335]|Hereditary cancer-predisposing syndrome [RCV004611798] Chr22:28725021 [GRCh38]
Chr22:29121009 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1384C>G (p.Leu462Val) single nucleotide variant Familial cancer of breast [RCV001350363]|Hereditary cancer-predisposing syndrome [RCV002384490] Chr22:28694109 [GRCh38]
Chr22:29090097 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-10T>C single nucleotide variant Familial cancer of breast [RCV001394598] Chr22:28699947 [GRCh38]
Chr22:29095935 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.10:g.(?_29083885)_(29115483_?)dup duplication Familial cancer of breast [RCV001305101] Chr22:29083885..29115483 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.880G>A (p.Ala294Thr) single nucleotide variant Malignant tumor of breast [RCV001354361] Chr22:28703533 [GRCh38]
Chr22:29099521 [GRCh37]
Chr22:22q12.1		 uncertain significance
NG_008150.2:g.14927_51132dup duplication Malignant tumor of breast [RCV001391302] Chr22:28695735..28731940 [GRCh38]
Chr22:29091723..29127928 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.3:c.-72_1632del deletion not provided [RCV001283975]   pathogenic
NM_007194.4(CHEK2):c.1203T>A (p.Thr401=) single nucleotide variant Familial cancer of breast [RCV001358852] Chr22:28695766 [GRCh38]
Chr22:29091754 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1462-1_1542+2del deletion Malignant tumor of breast [RCV001355374] Chr22:28689133..28689216 [GRCh38]
Chr22:29085121..29085204 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.717G>C (p.Glu239Asp) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002377502]|Malignant tumor of breast [RCV001355605] Chr22:28711984 [GRCh38]
Chr22:29107972 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.980A>T (p.Tyr327Phe) single nucleotide variant Breast and/or ovarian cancer [RCV001799338] Chr22:28699866 [GRCh38]
Chr22:29095854 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs) deletion Malignant tumor of breast [RCV001356269] Chr22:28689197..28689201 [GRCh38]
Chr22:29085185..29085189 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.683+6T>C single nucleotide variant Familial cancer of breast [RCV001369798] Chr22:28719389 [GRCh38]
Chr22:29115377 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29090010)_(29115483_?)del deletion Familial cancer of breast [RCV001383160] Chr22:29090010..29115483 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29105988)_(29115479_?)del deletion Familial cancer of breast [RCV001383161] Chr22:29105988..29115479 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29099483)_(29108015_?)del deletion Familial cancer of breast [RCV001383162] Chr22:29099483..29108015 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29083885)_(29099564_?)del deletion Familial cancer of breast [RCV001383163] Chr22:29083885..29099564 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.41G>T (p.Gly14Val) single nucleotide variant Familial cancer of breast [RCV001307914] Chr22:28734681 [GRCh38]
Chr22:29130669 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.512A>G (p.Asn171Ser) single nucleotide variant Familial cancer of breast [RCV002548506]|Familial ovarian cancer [RCV001355267] Chr22:28725057 [GRCh38]
Chr22:29121045 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.977T>C (p.Leu326Pro) single nucleotide variant Familial cancer of breast [RCV001369981]|Hereditary cancer-predisposing syndrome [RCV002384535] Chr22:28699869 [GRCh38]
Chr22:29095857 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1324del (p.Ser442fs) deletion Malignant tumor of breast [RCV001357386] Chr22:28695178 [GRCh38]
Chr22:29091166 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.598G>T (p.Val200Phe) single nucleotide variant Familial cancer of breast [RCV001348477] Chr22:28719480 [GRCh38]
Chr22:29115468 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.125C>G (p.Ser42Cys) single nucleotide variant Familial cancer of breast [RCV001312981] Chr22:28734597 [GRCh38]
Chr22:29130585 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1184T>A (p.Val395Asp) single nucleotide variant Familial cancer of breast [RCV001372891] Chr22:28695785 [GRCh38]
Chr22:29091773 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1361A>C (p.Glu454Ala) single nucleotide variant Familial cancer of breast [RCV001362768]|Hereditary cancer-predisposing syndrome [RCV004611786] Chr22:28695141 [GRCh38]
Chr22:29091129 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1461+5G>C single nucleotide variant Familial cancer of breast [RCV001362082]|Hereditary cancer-predisposing syndrome [RCV004951610] Chr22:28694027 [GRCh38]
Chr22:29090015 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+10A>G single nucleotide variant Familial cancer of breast [RCV001433789] Chr22:28709996 [GRCh38]
Chr22:29105984 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.554A>G (p.Asn185Ser) single nucleotide variant Familial cancer of breast [RCV001351768] Chr22:28725015 [GRCh38]
Chr22:29121003 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1231T>C (p.Trp411Arg) single nucleotide variant Familial cancer of breast [RCV001363025] Chr22:28695738 [GRCh38]
Chr22:29091726 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.976C>G (p.Leu326Val) single nucleotide variant Familial cancer of breast [RCV001343431] Chr22:28699870 [GRCh38]
Chr22:29095858 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.792A>G (p.Ala264=) single nucleotide variant Familial cancer of breast [RCV001343434] Chr22:28711909 [GRCh38]
Chr22:29107897 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.438_592+3del deletion Familial ovarian cancer [RCV001354390] Chr22:28724974..28725249 [GRCh38]
Chr22:29120962..29121237 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-3C>G single nucleotide variant Familial cancer of breast [RCV001343541]|Hereditary cancer-predisposing syndrome [RCV003365349] Chr22:28699940 [GRCh38]
Chr22:29095928 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.562G>A (p.Glu188Lys) single nucleotide variant Familial cancer of breast [RCV001309535]|Hereditary cancer-predisposing syndrome [RCV005318726] Chr22:28725007 [GRCh38]
Chr22:29120995 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.193A>T (p.Thr65Ser) single nucleotide variant Familial cancer of breast [RCV001320050]|Hereditary cancer-predisposing syndrome [RCV005318739] Chr22:28734529 [GRCh38]
Chr22:29130517 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.52T>C (p.Cys18Arg) single nucleotide variant Familial cancer of breast [RCV001322880]|Hereditary cancer-predisposing syndrome [RCV002350595] Chr22:28734670 [GRCh38]
Chr22:29130658 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.968C>T (p.Thr323Ile) single nucleotide variant Familial cancer of breast [RCV001315684]|Hereditary cancer-predisposing syndrome [RCV004034365] Chr22:28699878 [GRCh38]
Chr22:29095866 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.775G>T (p.Gly259Cys) single nucleotide variant Familial cancer of breast [RCV001307450]|Hereditary cancer-predisposing syndrome [RCV004034126] Chr22:28711926 [GRCh38]
Chr22:29107914 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu) single nucleotide variant Familial cancer of breast [RCV001322999]|Hereditary cancer-predisposing syndrome [RCV002418968] Chr22:28734721 [GRCh38]
Chr22:29130709 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.498T>A (p.Asn166Lys) single nucleotide variant Familial cancer of breast [RCV001371662] Chr22:28725071 [GRCh38]
Chr22:29121059 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1549A>G (p.Thr517Ala) single nucleotide variant Familial cancer of breast [RCV001361145]|Hereditary cancer-predisposing syndrome [RCV002404852] Chr22:28687980 [GRCh38]
Chr22:29083968 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.896T>A (p.Ile299Asn) single nucleotide variant Familial cancer of breast [RCV002547688]|Hereditary cancer-predisposing syndrome [RCV003365358]|Malignant tumor of breast [RCV001358323] Chr22:28703517 [GRCh38]
Chr22:29099505 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1436A>T (p.Glu479Val) single nucleotide variant Familial cancer of breast [RCV001365306] Chr22:28694057 [GRCh38]
Chr22:29090045 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1009-13_1009-6del deletion Familial cancer of breast [RCV001316016] Chr22:28696993..28697000 [GRCh38]
Chr22:29092981..29092988 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.444G>A (p.Arg148=) single nucleotide variant Familial cancer of breast [RCV001301932] Chr22:28725243 [GRCh38]
Chr22:29121231 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.151C>G (p.Gln51Glu) single nucleotide variant Familial cancer of breast [RCV001322147]|Hereditary cancer-predisposing syndrome [RCV002395707] Chr22:28734571 [GRCh38]
Chr22:29130559 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.419G>C (p.Ser140Thr) single nucleotide variant Familial cancer of breast [RCV001372277]|Hereditary cancer-predisposing syndrome [RCV004037528] Chr22:28725268 [GRCh38]
Chr22:29121256 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.444+5dup duplication Familial cancer of breast [RCV001350469] Chr22:28725237..28725238 [GRCh38]
Chr22:29121225..29121226 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.747G>T (p.Lys249Asn) single nucleotide variant Familial cancer of breast [RCV001317848] Chr22:28711954 [GRCh38]
Chr22:29107942 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1493T>C (p.Leu498Pro) single nucleotide variant Familial cancer of breast [RCV001344172] Chr22:28689184 [GRCh38]
Chr22:29085172 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.398C>T (p.Thr133Ile) single nucleotide variant Familial cancer of breast [RCV001316071]|Hereditary cancer-predisposing syndrome [RCV004951511] Chr22:28725289 [GRCh38]
Chr22:29121277 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.850T>C (p.Cys284Arg) single nucleotide variant Familial cancer of breast [RCV001347612] Chr22:28703563 [GRCh38]
Chr22:29099551 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.289T>C (p.Trp97Arg) single nucleotide variant Familial cancer of breast [RCV001361730]|Hereditary cancer-predisposing syndrome [RCV002438836] Chr22:28734433 [GRCh38]
Chr22:29130421 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.793-110_846+2del deletion Malignant tumor of breast [RCV001357360] Chr22:28710004..28710169 [GRCh38]
Chr22:29105992..29106157 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.614C>G (p.Thr205Ser) single nucleotide variant Familial cancer of breast [RCV001304131] Chr22:28719464 [GRCh38]
Chr22:29115452 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1070C>G (p.Ser357Cys) single nucleotide variant Familial cancer of breast [RCV001299417]|Hereditary cancer-predisposing syndrome [RCV002418903]|not provided [RCV004590305] Chr22:28696926 [GRCh38]
Chr22:29092914 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1426A>C (p.Thr476Pro) single nucleotide variant Familial cancer of breast [RCV001342939] Chr22:28694067 [GRCh38]
Chr22:29090055 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1205C>G (p.Ala402Gly) single nucleotide variant Familial cancer of breast [RCV001322507] Chr22:28695764 [GRCh38]
Chr22:29091752 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.337T>C (p.Tyr113His) single nucleotide variant Familial cancer of breast [RCV001304474]|Hereditary cancer-predisposing syndrome [RCV004036312] Chr22:28725350 [GRCh38]
Chr22:29121338 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.995T>G (p.Leu332Arg) single nucleotide variant Familial cancer of breast [RCV001350600] Chr22:28699851 [GRCh38]
Chr22:29095839 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.268C>A (p.Pro90Thr) single nucleotide variant Familial cancer of breast [RCV001297666] Chr22:28734454 [GRCh38]
Chr22:29130442 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908T>G (p.Leu303Trp) single nucleotide variant Familial cancer of breast [RCV001305168]|Hereditary cancer-predisposing syndrome [RCV004951486] Chr22:28703505 [GRCh38]
Chr22:29099493 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.955C>G (p.Leu319Val) single nucleotide variant Familial cancer of breast [RCV001317400] Chr22:28699891 [GRCh38]
Chr22:29095879 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+6del deletion Familial cancer of breast [RCV001341648] Chr22:28703499 [GRCh38]
Chr22:29099487 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.466T>C (p.Tyr156His) single nucleotide variant Familial cancer of breast [RCV001321222] Chr22:28725103 [GRCh38]
Chr22:29121091 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.759A>C (p.Lys253Asn) single nucleotide variant Familial cancer of breast [RCV001362356] Chr22:28711942 [GRCh38]
Chr22:29107930 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.461A>G (p.Asn154Ser) single nucleotide variant Familial cancer of breast [RCV001363824] Chr22:28725108 [GRCh38]
Chr22:29121096 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.13T>G (p.Ser5Ala) single nucleotide variant Familial cancer of breast [RCV001314334] Chr22:28734709 [GRCh38]
Chr22:29130697 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.50C>T (p.Ala17Val) single nucleotide variant Familial cancer of breast [RCV001362493] Chr22:28734672 [GRCh38]
Chr22:29130660 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.382_383delinsTT (p.Pro128Leu) indel Familial cancer of breast [RCV001298933] Chr22:28725304..28725305 [GRCh38]
Chr22:29121292..29121293 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1390AAG[1] (p.Lys465del) microsatellite Familial cancer of breast [RCV001366197]|Hereditary cancer-predisposing syndrome [RCV002395828] Chr22:28694098..28694100 [GRCh38]
Chr22:29090086..29090088 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1135T>C (p.Ser379Pro) single nucleotide variant Familial cancer of breast [RCV001314397] Chr22:28695834 [GRCh38]
Chr22:29091822 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.355A>G (p.Lys119Glu) single nucleotide variant Familial cancer of breast [RCV001351788] Chr22:28725332 [GRCh38]
Chr22:29121320 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.288A>T (p.Leu96Phe) single nucleotide variant Familial cancer of breast [RCV001338091]|Familial prostate cancer [RCV005361540]|Hereditary cancer-predisposing syndrome [RCV005318751] Chr22:28734434 [GRCh38]
Chr22:29130422 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala) single nucleotide variant Familial cancer of breast [RCV001359952]|not specified [RCV002246338] Chr22:28719465 [GRCh38]
Chr22:29115453 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29130381)_(29130713_?)dup duplication Familial cancer of breast [RCV001314512] Chr22:29130381..29130713 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1074A>C (p.Gln358His) single nucleotide variant Familial cancer of breast [RCV001350339] Chr22:28696922 [GRCh38]
Chr22:29092910 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1375G>T (p.Ala459Ser) single nucleotide variant Familial cancer of breast [RCV001306420]|Hereditary cancer-predisposing syndrome [RCV002384375] Chr22:28695127 [GRCh38]
Chr22:29091115 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1542+6C>G single nucleotide variant Familial cancer of breast [RCV001297810] Chr22:28689129 [GRCh38]
Chr22:29085117 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1085G>T (p.Cys362Phe) single nucleotide variant Familial cancer of breast [RCV001340289] Chr22:28696911 [GRCh38]
Chr22:29092899 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.491G>A (p.Ser164Asn) single nucleotide variant Familial cancer of breast [RCV001314203]|Hereditary cancer-predisposing syndrome [RCV002341634] Chr22:28725078 [GRCh38]
Chr22:29121066 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1537G>A (p.Ala513Thr) single nucleotide variant Familial cancer of breast [RCV001296196] Chr22:28689140 [GRCh38]
Chr22:29085128 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1294A>C (p.Thr432Pro) single nucleotide variant Familial cancer of breast [RCV001366725]|Hereditary cancer-predisposing syndrome [RCV002384528] Chr22:28695208 [GRCh38]
Chr22:29091196 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.128C>A (p.Thr43Asn) single nucleotide variant Familial cancer of breast [RCV001338466] Chr22:28734594 [GRCh38]
Chr22:29130582 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.360C>T (p.Ser120=) single nucleotide variant Familial cancer of breast [RCV001412423]|Hereditary cancer-predisposing syndrome [RCV003160648] Chr22:28725327 [GRCh38]
Chr22:29121315 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.3:c.(319+1_320-1)_(846+1_847-1)dup duplication Hereditary cancer-predisposing syndrome [RCV001376096]   likely pathogenic
NM_007194.4(CHEK2):c.157T>G (p.Ser53Ala) single nucleotide variant Familial cancer of breast [RCV001300193] Chr22:28734565 [GRCh38]
Chr22:29130553 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.698A>C (p.Glu233Ala) single nucleotide variant Familial cancer of breast [RCV001338315] Chr22:28712003 [GRCh38]
Chr22:29107991 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1166C>T (p.Thr389Ile) single nucleotide variant Familial cancer of breast [RCV001365348]|Hereditary cancer-predisposing syndrome [RCV004611789]|not provided [RCV003325567] Chr22:28695803 [GRCh38]
Chr22:29091791 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.819A>C (p.Glu273Asp) single nucleotide variant Familial cancer of breast [RCV001325816] Chr22:28710033 [GRCh38]
Chr22:29106021 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1112A>G (p.His371Arg) single nucleotide variant Familial cancer of breast [RCV001338378]|Hereditary cancer-predisposing syndrome [RCV002438768] Chr22:28695857 [GRCh38]
Chr22:29091845 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1009-100_1095+3del deletion Familial cancer of breast [RCV001355121] Chr22:28696898..28697087 [GRCh38]
Chr22:29092886..29093075 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.899T>G (p.Val300Gly) single nucleotide variant Familial cancer of breast [RCV001351554] Chr22:28703514 [GRCh38]
Chr22:29099502 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.258G>A (p.Glu86=) single nucleotide variant Malignant tumor of breast [RCV001354695] Chr22:28734464 [GRCh38]
Chr22:29130452 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.956T>G (p.Leu319Arg) single nucleotide variant Familial cancer of breast [RCV001308037] Chr22:28699890 [GRCh38]
Chr22:29095878 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1259+10A>G single nucleotide variant Familial cancer of breast [RCV001396346] Chr22:28695700 [GRCh38]
Chr22:29091688 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.502A>C (p.Thr168Pro) single nucleotide variant Familial cancer of breast [RCV001315793] Chr22:28725067 [GRCh38]
Chr22:29121055 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1433A>T (p.Glu478Val) single nucleotide variant Familial cancer of breast [RCV001337932] Chr22:28694060 [GRCh38]
Chr22:29090048 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.3:c.(846+1_847-1)_(908+1_909-1)dup duplication Hereditary cancer-predisposing syndrome [RCV001376095]   likely pathogenic
NM_007194.4(CHEK2):c.1122T>A (p.Ile374=) single nucleotide variant Familial cancer of breast [RCV001474909] Chr22:28695847 [GRCh38]
Chr22:29091835 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1539C>G (p.Ala513=) single nucleotide variant Familial cancer of breast [RCV001494642] Chr22:28689138 [GRCh38]
Chr22:29085126 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1241_1243del (p.Gly414del) deletion not provided [RCV001508928] Chr22:28695726..28695728 [GRCh38]
Chr22:29091714..29091716 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1366_1367dup (p.Glu457fs) microsatellite Hereditary cancer-predisposing syndrome [RCV001524717] Chr22:28695134..28695135 [GRCh38]
Chr22:29091122..29091123 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29082731)_(29138822_?)del deletion Familial cancer of breast [RCV001380216] Chr22:29082731..29138822 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1263T>C (p.Leu421=) single nucleotide variant Familial cancer of breast [RCV001427711] Chr22:28695239 [GRCh38]
Chr22:29091227 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1326T>C (p.Ser442=) single nucleotide variant Familial cancer of breast [RCV001470007] Chr22:28695176 [GRCh38]
Chr22:29091164 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.320-4A>G single nucleotide variant Familial cancer of breast [RCV001465241]|Hereditary cancer-predisposing syndrome [RCV002449243] Chr22:28725371 [GRCh38]
Chr22:29121359 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.684-2A>G single nucleotide variant CHEK2-related cancer predisposition [RCV005361582]|Familial cancer of breast [RCV001377776]|Familial cancer of breast [RCV002499777]|Hereditary breast ovarian cancer syndrome [RCV004764801]|Hereditary cancer-predisposing syndrome [RCV002368214] Chr22:28712019 [GRCh38]
Chr22:29108007 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.693T>C (p.Cys231=) single nucleotide variant Familial cancer of breast [RCV001490766]|Hereditary cancer-predisposing syndrome [RCV004611833] Chr22:28712008 [GRCh38]
Chr22:29107996 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.975G>A (p.Lys325=) single nucleotide variant Familial cancer of breast [RCV001404948] Chr22:28699871 [GRCh38]
Chr22:29095859 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1359A>C (p.Ala453=) single nucleotide variant Familial cancer of breast [RCV001496438] Chr22:28695143 [GRCh38]
Chr22:29091131 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1096-7A>T single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001525959] Chr22:28695880 [GRCh38]
Chr22:29091868 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083885)_(30337586_?)del deletion Neurofibromatosis, type 2 [RCV001390044] Chr22:29083885..30337586 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_007194.4(CHEK2):c.261G>A (p.Glu87=) single nucleotide variant Familial cancer of breast [RCV001475405]|Hereditary cancer-predisposing syndrome [RCV002439135] Chr22:28734461 [GRCh38]
Chr22:29130449 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.593-4T>A single nucleotide variant Familial cancer of breast [RCV001500284] Chr22:28719489 [GRCh38]
Chr22:29115477 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1362del (p.Val455fs) deletion Familial cancer of breast [RCV001380816] Chr22:28695140 [GRCh38]
Chr22:29091128 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs) microsatellite Familial cancer of breast [RCV001380817]|Hereditary cancer-predisposing syndrome [RCV002413911] Chr22:28711912..28711913 [GRCh38]
Chr22:29107900..29107901 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.319+43dup duplication Familial cancer of breast [RCV001517086]|Hereditary breast ovarian cancer syndrome [RCV002225841]|not provided [RCV001707870] Chr22:28734359..28734360 [GRCh38]
Chr22:29130347..29130348 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.537A>G (p.Lys179=) single nucleotide variant Familial cancer of breast [RCV001402971] Chr22:28725032 [GRCh38]
Chr22:29121020 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.444+8A>G single nucleotide variant Familial cancer of breast [RCV001465469] Chr22:28725235 [GRCh38]
Chr22:29121223 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1376-6C>T single nucleotide variant Familial cancer of breast [RCV001442292] Chr22:28694123 [GRCh38]
Chr22:29090111 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.445-14G>A single nucleotide variant Familial cancer of breast [RCV003607421]|Hereditary cancer-predisposing syndrome [RCV001524635] Chr22:28725138 [GRCh38]
Chr22:29121126 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.663_664insGGAGCAGGAAGTGGCGGTGCGAGGGCTGCTACACAGCGAGCGGAGCCGCGGTCCGGACGGCAGCGCGTGCCCCGAGCTCTCCGCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAGATGAATACATC (p.Met222fs) insertion Familial cancer of breast [RCV001383501] Chr22:28719414..28719415 [GRCh38]
Chr22:29115402..29115403 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1548T>C (p.Ser516=) single nucleotide variant Familial cancer of breast [RCV001483174]|Hereditary cancer-predisposing syndrome [RCV003298852] Chr22:28687981 [GRCh38]
Chr22:29083969 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1404A>G (p.Val468=) single nucleotide variant Familial cancer of breast [RCV001474441]|Hereditary cancer-predisposing syndrome [RCV002396122] Chr22:28694089 [GRCh38]
Chr22:29090077 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.624T>C (p.Asp208=) single nucleotide variant Familial cancer of breast [RCV001504336]|Hereditary cancer-predisposing syndrome [RCV002368531] Chr22:28719454 [GRCh38]
Chr22:29115442 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.593-2A>G single nucleotide variant Familial cancer of breast [RCV001379343] Chr22:28719487 [GRCh38]
Chr22:29115475 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.10:g.(?_29092879)_(29095935_?)del deletion Familial cancer of breast [RCV001388375] Chr22:29092879..29095935 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29121104)_29125326del deletion Familial cancer of breast [RCV001388376]   pathogenic
NC_000022.10:g.(?_29105984)_(30337586_?)del deletion Familial cancer of breast [RCV001390747] Chr22:29105984..30337586 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NC_000022.10:g.(?_29083885)_(29090115_?)del deletion Familial cancer of breast [RCV001390748] Chr22:29083885..29090115 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.909-15G>A single nucleotide variant Familial cancer of breast [RCV002071884]|Hereditary cancer-predisposing syndrome [RCV001525198] Chr22:28699952 [GRCh38]
Chr22:29095940 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1431A>C (p.Thr477=) single nucleotide variant Familial cancer of breast [RCV003500681]|Hereditary cancer-predisposing syndrome [RCV001525284] Chr22:28694062 [GRCh38]
Chr22:29090050 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.750C>A (p.Ile250=) single nucleotide variant Familial cancer of breast [RCV001453176] Chr22:28711951 [GRCh38]
Chr22:29107939 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.577C>T (p.Leu193=) single nucleotide variant Familial cancer of breast [RCV001501255] Chr22:28724992 [GRCh38]
Chr22:29120980 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.597T>C (p.Phe199=) single nucleotide variant Familial cancer of breast [RCV001470329] Chr22:28719481 [GRCh38]
Chr22:29115469 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.359del (p.Ser120fs) deletion Familial cancer of breast [RCV001386363] Chr22:28725328 [GRCh38]
Chr22:29121316 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1420del (p.Arg474fs) deletion Familial cancer of breast [RCV001383723] Chr22:28694073 [GRCh38]
Chr22:29090061 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.474A>T (p.Ala158=) single nucleotide variant Familial cancer of breast [RCV001491772] Chr22:28725095 [GRCh38]
Chr22:29121083 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.849T>G (p.Pro283=) single nucleotide variant Familial cancer of breast [RCV001493202]|Hereditary cancer-predisposing syndrome [RCV002449302] Chr22:28703564 [GRCh38]
Chr22:29099552 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1446A>G (p.Arg482=) single nucleotide variant Familial cancer of breast [RCV001484441] Chr22:28694047 [GRCh38]
Chr22:29090035 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.30G>A (p.Gln10=) single nucleotide variant Familial cancer of breast [RCV001493291] Chr22:28734692 [GRCh38]
Chr22:29130680 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.516A>G (p.Thr172=) single nucleotide variant Familial cancer of breast [RCV001493361] Chr22:28725053 [GRCh38]
Chr22:29121041 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.180G>A (p.Leu60=) single nucleotide variant Familial cancer of breast [RCV002568839]|Hereditary cancer-predisposing syndrome [RCV001526325] Chr22:28734542 [GRCh38]
Chr22:29130530 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.222del (p.Pro75fs) deletion Familial cancer of breast [RCV001384270]|Hereditary cancer-predisposing syndrome [RCV004951661] Chr22:28734500 [GRCh38]
Chr22:29130488 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.768dup (p.Ala257fs) duplication Familial cancer of breast [RCV001387182] Chr22:28711932..28711933 [GRCh38]
Chr22:29107920..29107921 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.483A>G (p.Glu161=) single nucleotide variant Familial cancer of breast [RCV001448531]|Hereditary cancer-predisposing syndrome [RCV004951771] Chr22:28725086 [GRCh38]
Chr22:29121074 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.664_676del (p.Met222fs) deletion Familial cancer of breast [RCV001382309] Chr22:28719402..28719414 [GRCh38]
Chr22:29115390..29115402 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1185T>G (p.Val395=) single nucleotide variant Familial cancer of breast [RCV001448666] Chr22:28695784 [GRCh38]
Chr22:29091772 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.10:g.(?_29083885)_(29130709_?)del deletion Familial cancer of breast [RCV001380217] Chr22:29083885..29130709 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29091105)_(29091240_?)del deletion Familial cancer of breast [RCV001380218] Chr22:29091105..29091240 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.41del (p.Gly14fs) deletion Familial cancer of breast [RCV001388156] Chr22:28734681 [GRCh38]
Chr22:29130669 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.858C>T (p.Ile286=) single nucleotide variant Familial cancer of breast [RCV001397748] Chr22:28703555 [GRCh38]
Chr22:29099543 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1375+2T>C single nucleotide variant Familial cancer of breast [RCV001377895] Chr22:28695125 [GRCh38]
Chr22:29091113 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1428G>C (p.Thr476=) single nucleotide variant Familial cancer of breast [RCV001402188]|Hereditary cancer-predisposing syndrome [RCV004611805]|not specified [RCV003320486] Chr22:28694065 [GRCh38]
Chr22:29090053 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.750del (p.Ile251fs) deletion Familial cancer of breast [RCV001389565] Chr22:28711951 [GRCh38]
Chr22:29107939 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1264dup (p.Ser422fs) duplication Familial cancer of breast [RCV001385396] Chr22:28695237..28695238 [GRCh38]
Chr22:29091225..29091226 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.684-1del deletion Familial cancer of breast [RCV001378496] Chr22:28712018 [GRCh38]
Chr22:29108006 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs) duplication Familial cancer of breast [RCV001388288] Chr22:28695722..28695723 [GRCh38]
Chr22:29091710..29091711 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.724del (p.Thr242fs) deletion CHEK2-related cancer predisposition [RCV004822380]|Familial cancer of breast [RCV001389599] Chr22:28711977 [GRCh38]
Chr22:29107965 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.400_403del (p.Asp134fs) deletion Familial cancer of breast [RCV001380830] Chr22:28725284..28725287 [GRCh38]
Chr22:29121272..29121275 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.55del (p.Ser19fs) deletion Familial cancer of breast [RCV001385048] Chr22:28734667 [GRCh38]
Chr22:29130655 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.664del (p.Met222fs) deletion Familial cancer of breast [RCV001380516] Chr22:28719414 [GRCh38]
Chr22:29115402 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29081001)_29140000del deletion Familial cancer of breast [RCV001388034]   pathogenic
NM_007194.4(CHEK2):c.471del (p.Ile157fs) deletion Familial cancer of breast [RCV001381133] Chr22:28725098 [GRCh38]
Chr22:29121086 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1110G>T (p.Gly370=) single nucleotide variant Familial cancer of breast [RCV001415507] Chr22:28695859 [GRCh38]
Chr22:29091847 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.502del (p.Thr168fs) deletion Familial cancer of breast [RCV001388181] Chr22:28725067 [GRCh38]
Chr22:29121055 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs) deletion Familial cancer of breast [RCV001388198] Chr22:28734488..28734489 [GRCh38]
Chr22:29130476..29130477 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.968_969del (p.Thr323fs) deletion Familial cancer of breast [RCV001390538] Chr22:28699877..28699878 [GRCh38]
Chr22:29095865..29095866 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.621T>C (p.Asp207=) single nucleotide variant Familial cancer of breast [RCV001444741] Chr22:28719457 [GRCh38]
Chr22:29115445 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1543-4T>C single nucleotide variant Familial cancer of breast [RCV001408082] Chr22:28687990 [GRCh38]
Chr22:29083978 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1431A>G (p.Thr477=) single nucleotide variant Familial cancer of breast [RCV001426734]|Hereditary cancer-predisposing syndrome [RCV002395979] Chr22:28694062 [GRCh38]
Chr22:29090050 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1499_1523del (p.Ser500fs) deletion Familial cancer of breast [RCV001378495] Chr22:28689154..28689178 [GRCh38]
Chr22:29085142..29085166 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1462-8C>A single nucleotide variant Familial cancer of breast [RCV001400042] Chr22:28689223 [GRCh38]
Chr22:29085211 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.615T>C (p.Thr205=) single nucleotide variant Familial cancer of breast [RCV001405795] Chr22:28719463 [GRCh38]
Chr22:29115451 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.27T>G (p.Ala9=) single nucleotide variant Familial cancer of breast [RCV001447577] Chr22:28734695 [GRCh38]
Chr22:29130683 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.429C>T (p.His143=) single nucleotide variant Familial cancer of breast [RCV001401228] Chr22:28725258 [GRCh38]
Chr22:29121246 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter) single nucleotide variant Familial cancer of breast [RCV001386595] Chr22:28694038 [GRCh38]
Chr22:29090026 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.858C>A (p.Ile286=) single nucleotide variant Familial cancer of breast [RCV001404012]|Hereditary cancer-predisposing syndrome [RCV002449102]|Hereditary nonpolyposis colon cancer [RCV005361601] Chr22:28703555 [GRCh38]
Chr22:29099543 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.847-8C>T single nucleotide variant Familial cancer of breast [RCV001424155]|not provided [RCV004998891] Chr22:28703574 [GRCh38]
Chr22:29099562 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.82del (p.Ser28fs) deletion Familial cancer of breast [RCV001385600] Chr22:28734640 [GRCh38]
Chr22:29130628 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) insertion Familial cancer of breast [RCV001390827] Chr22:28719409..28719410 [GRCh38]
Chr22:29115397..29115398 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.366A>G (p.Glu122=) single nucleotide variant Familial cancer of breast [RCV001411142]|Hereditary cancer-predisposing syndrome [RCV002258232] Chr22:28725321 [GRCh38]
Chr22:29121309 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter) single nucleotide variant Familial cancer of breast [RCV001381774] Chr22:28699927 [GRCh38]
Chr22:29095915 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29120157)_29121088del deletion Familial cancer of breast [RCV001377350]   likely pathogenic
NM_007194.4(CHEK2):c.658dup (p.Tyr220fs) duplication Familial cancer of breast [RCV001387045] Chr22:28719419..28719420 [GRCh38]
Chr22:29115407..29115408 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.908+1540_1095+330del deletion Carcinoma of pancreas [RCV001391211]|Familial cancer of breast [RCV003155976]|TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE [RCV003441149]|not provided [RCV004697132] Chr22:28696571..28701965 [GRCh38]
Chr22:29092559..29097953 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.174G>A (p.Gly58=) single nucleotide variant Familial cancer of breast [RCV001432192] Chr22:28734548 [GRCh38]
Chr22:29130536 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter) single nucleotide variant Familial cancer of breast [RCV001384503] Chr22:28695135 [GRCh38]
Chr22:29091123 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter) single nucleotide variant Familial cancer of breast [RCV001387273]|Hereditary cancer-predisposing syndrome [RCV002395874] Chr22:28694093 [GRCh38]
Chr22:29090081 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1067_1077del (p.Leu355_Ser356insTer) deletion Familial cancer of breast [RCV001382114] Chr22:28696919..28696929 [GRCh38]
Chr22:29092907..29092917 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.545dup (p.Leu183fs) duplication Familial cancer of breast [RCV001389227] Chr22:28725023..28725024 [GRCh38]
Chr22:29121011..29121012 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1543-192A>G single nucleotide variant not provided [RCV001715019] Chr22:28688178 [GRCh38]
Chr22:29084166 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.445-6T>G single nucleotide variant not provided [RCV001590695] Chr22:28725130 [GRCh38]
Chr22:29121118 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1543-411C>T single nucleotide variant not provided [RCV001717086] Chr22:28688397 [GRCh38]
Chr22:29084385 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.843T>C (p.Asn281=) single nucleotide variant Familial cancer of breast [RCV001472719] Chr22:28710009 [GRCh38]
Chr22:29105997 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1376-376C>G single nucleotide variant not provided [RCV001675503] Chr22:28694493 [GRCh38]
Chr22:29090481 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1140C>T (p.Leu380=) single nucleotide variant Familial cancer of breast [RCV001462042] Chr22:28695829 [GRCh38]
Chr22:29091817 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.319+4038_319+4043del microsatellite not provided [RCV001539169] Chr22:28730360..28730365 [GRCh38]
Chr22:29126348..29126353 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1009-10T>G single nucleotide variant Familial cancer of breast [RCV001459737] Chr22:28696997 [GRCh38]
Chr22:29092985 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1009-264T>C single nucleotide variant not provided [RCV001537175] Chr22:28697251 [GRCh38]
Chr22:29093239 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1096-320G>A single nucleotide variant not provided [RCV001714088] Chr22:28696193 [GRCh38]
Chr22:29092181 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.660_661del (p.Ile221fs) deletion Breast carcinoma [RCV001663391] Chr22:28719417..28719418 [GRCh38]
Chr22:29115405..29115406 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.908+7A>G single nucleotide variant Familial cancer of breast [RCV001463682] Chr22:28703498 [GRCh38]
Chr22:29099486 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+4426= single nucleotide variant not provided [RCV001616676] Chr22:28729977 [GRCh38]
Chr22:29125965 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.319+4206T>C single nucleotide variant not provided [RCV001714446] Chr22:28730197 [GRCh38]
Chr22:29126185 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.369T>C (p.Tyr123=) single nucleotide variant Familial cancer of breast [RCV001456583] Chr22:28725318 [GRCh38]
Chr22:29121306 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1259+5G>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524454] Chr22:28695705 [GRCh38]
Chr22:29091693 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-7G>A single nucleotide variant Familial cancer of breast [RCV001489440] Chr22:28699944 [GRCh38]
Chr22:29095932 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.11:g.28741956G>C single nucleotide variant not provided [RCV001685704] Chr22:28741956 [GRCh38]
Chr22:29137944 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1528dup (p.Gln510fs) duplication Familial cancer of breast [RCV001377751] Chr22:28689148..28689149 [GRCh38]
Chr22:29085136..29085137 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1485T>C (p.Phe495=) single nucleotide variant Familial cancer of breast [RCV001441977] Chr22:28689192 [GRCh38]
Chr22:29085180 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1461+7G>T single nucleotide variant Familial cancer of breast [RCV001481361] Chr22:28694025 [GRCh38]
Chr22:29090013 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1365C>G (p.Val455=) single nucleotide variant Familial cancer of breast [RCV001473130] Chr22:28695137 [GRCh38]
Chr22:29091125 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs) deletion Familial cancer of breast [RCV001385211]|Hereditary cancer-predisposing syndrome [RCV004037670] Chr22:28699926..28699927 [GRCh38]
Chr22:29095914..29095915 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NC_000022.10:g.(?_29095816)_(29099564_?)del deletion Familial cancer of breast [RCV001379895] Chr22:29095816..29099564 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.687T>C (p.Gly229=) single nucleotide variant Familial cancer of breast [RCV001403418] Chr22:28712014 [GRCh38]
Chr22:29108002 [GRCh37]
Chr22:22q12.1		 likely benign
NC_000022.10:g.(?_29090010)_(29130713_?)del deletion Familial cancer of breast [RCV001390749] Chr22:29090010..29130713 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.294C>G (p.Ala98=) single nucleotide variant Familial cancer of breast [RCV001482089] Chr22:28734428 [GRCh38]
Chr22:29130416 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1077del (p.Glu360fs) deletion Familial cancer of breast [RCV003500682]|Hereditary cancer-predisposing syndrome [RCV001525729] Chr22:28696919 [GRCh38]
Chr22:29092907 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1008+6dup duplication Familial cancer of breast [RCV001451325] Chr22:28699831..28699832 [GRCh38]
Chr22:29095819..29095820 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1449C>T (p.His483=) single nucleotide variant Familial cancer of breast [RCV001498249]|Hereditary cancer-predisposing syndrome [RCV002388538] Chr22:28694044 [GRCh38]
Chr22:29090032 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NC_000022.11:g.28741882C>T single nucleotide variant Familial cancer of breast [RCV001516877]|not provided [RCV001712926] Chr22:28741882 [GRCh38]
Chr22:29137870 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1008+7G>A single nucleotide variant Familial cancer of breast [RCV001465035] Chr22:28699831 [GRCh38]
Chr22:29095819 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.319+9C>T single nucleotide variant Familial cancer of breast [RCV001478777] Chr22:28734394 [GRCh38]
Chr22:29130382 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.469del (p.Ile157fs) deletion Familial cancer of breast [RCV001388713] Chr22:28725100 [GRCh38]
Chr22:29121088 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.830T>A (p.Leu277Ter) single nucleotide variant Familial cancer of breast [RCV001380137] Chr22:28710022 [GRCh38]
Chr22:29106010 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1551T>A (p.Thr517=) single nucleotide variant Familial cancer of breast [RCV001406719] Chr22:28687978 [GRCh38]
Chr22:29083966 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) single nucleotide variant Breast and/or ovarian cancer [RCV001799077]|Familial cancer of breast [RCV001383631]|Hereditary cancer-predisposing syndrome [RCV002413913]|not provided [RCV002476725] Chr22:28734616 [GRCh38]
Chr22:29130604 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.24G>A (p.Glu8=) single nucleotide variant Familial cancer of breast [RCV001393519]|Hereditary cancer-predisposing syndrome [RCV002432087] Chr22:28734698 [GRCh38]
Chr22:29130686 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.349del (p.Arg117fs) deletion Familial cancer of breast [RCV001380163] Chr22:28725338 [GRCh38]
Chr22:29121326 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.735A>G (p.Lys245=) single nucleotide variant Familial cancer of breast [RCV001430209] Chr22:28711966 [GRCh38]
Chr22:29107954 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.718del (p.Arg240fs) deletion Familial cancer of breast [RCV001385789] Chr22:28711983 [GRCh38]
Chr22:29107971 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1308G>A (p.Leu436=) single nucleotide variant Familial cancer of breast [RCV001466405] Chr22:28695194 [GRCh38]
Chr22:29091182 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1260-6A>G single nucleotide variant Familial cancer of breast [RCV002070301]|Hereditary cancer-predisposing syndrome [RCV001524107] Chr22:28695248 [GRCh38]
Chr22:29091236 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.331G>A (p.Asp111Asn) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001524134] Chr22:28725356 [GRCh38]
Chr22:29121344 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847-2_857del deletion Familial cancer of breast [RCV003500676]|Hereditary breast ovarian cancer syndrome [RCV005408941]|Hereditary cancer-predisposing syndrome [RCV001524248] Chr22:28703556..28703568 [GRCh38]
Chr22:29099544..29099556 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.33del (p.Gln11fs) deletion Familial cancer of breast [RCV001384107] Chr22:28734689 [GRCh38]
Chr22:29130677 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.847-12_847-2del deletion Familial cancer of breast [RCV005208738]|Gastric cancer [RCV003169933] Chr22:28703568..28703578 [GRCh38]
Chr22:29099556..29099566 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NC_000022.10:g.(?_29115373)_(29121365_?)del deletion Familial cancer of breast [RCV001380364] Chr22:29115373..29121365 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1155T>A (p.Cys385Ter) single nucleotide variant Familial cancer of breast [RCV001389704] Chr22:28695814 [GRCh38]
Chr22:29091802 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter) single nucleotide variant Familial cancer of breast [RCV001384342] Chr22:28694061 [GRCh38]
Chr22:29090049 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.201C>T (p.Ser67=) single nucleotide variant Familial cancer of breast [RCV001468193] Chr22:28734521 [GRCh38]
Chr22:29130509 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1332del (p.Lys444fs) deletion Familial cancer of breast [RCV001386208] Chr22:28695170 [GRCh38]
Chr22:29091158 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1248del (p.Leu417fs) deletion Familial cancer of breast [RCV001384863] Chr22:28695721 [GRCh38]
Chr22:29091709 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1533del (p.Val511_Leu512insTer) deletion Familial cancer of breast [RCV001379781] Chr22:28689144 [GRCh38]
Chr22:29085132 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter) single nucleotide variant Familial cancer of breast [RCV001390193] Chr22:28711914 [GRCh38]
Chr22:29107902 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.63C>T (p.Pro21=) single nucleotide variant Familial cancer of breast [RCV001450498] Chr22:28734659 [GRCh38]
Chr22:29130647 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1543-11_1543-2del deletion Familial cancer of breast [RCV001728027]|Hereditary cancer-predisposing syndrome [RCV003365440]|not provided [RCV003321868] Chr22:28687988..28687997 [GRCh38]
Chr22:29083976..29083985 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.489C>T (p.His163=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258748] Chr22:28725080 [GRCh38]
Chr22:29121068 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1518A>C (p.Thr506=) single nucleotide variant Familial cancer of breast [RCV005246138] Chr22:28689159 [GRCh38]
Chr22:29085147 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.*9G>C single nucleotide variant Familial cancer of breast [RCV005246164] Chr22:28687888 [GRCh38]
Chr22:29083876 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.444+8A>T single nucleotide variant Familial cancer of breast [RCV005246187] Chr22:28725235 [GRCh38]
Chr22:29121223 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.909-20G>C single nucleotide variant Familial cancer of breast [RCV005246247] Chr22:28699957 [GRCh38]
Chr22:29095945 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1008+7del deletion Familial cancer of breast [RCV005246259] Chr22:28699831 [GRCh38]
Chr22:29095819 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1479A>G (p.Arg493=) single nucleotide variant Familial cancer of breast [RCV005246262]|Hereditary cancer-predisposing syndrome [RCV005315859] Chr22:28689198 [GRCh38]
Chr22:29085186 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.-6-13C>T single nucleotide variant Familial cancer of breast [RCV005249912] Chr22:28734740 [GRCh38]
Chr22:29130728 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1543-11T>C single nucleotide variant Familial cancer of breast [RCV005246281] Chr22:28687997 [GRCh38]
Chr22:29083985 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1254T>C (p.Phe418=) single nucleotide variant Familial cancer of breast [RCV005246428] Chr22:28695715 [GRCh38]
Chr22:29091703 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.801T>C (p.Ala267=) single nucleotide variant Familial cancer of breast [RCV005247841] Chr22:28710051 [GRCh38]
Chr22:29106039 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1543-8A>G single nucleotide variant Familial cancer of breast [RCV005247851] Chr22:28687994 [GRCh38]
Chr22:29083982 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1341C>T (p.Phe447=) single nucleotide variant Familial cancer of breast [RCV005247852] Chr22:28695161 [GRCh38]
Chr22:29091149 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1260-11C>T single nucleotide variant Familial cancer of breast [RCV005247881] Chr22:28695253 [GRCh38]
Chr22:29091241 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1494T>G (p.Leu498=) single nucleotide variant Familial cancer of breast [RCV005249881] Chr22:28689183 [GRCh38]
Chr22:29085171 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.1512A>G (p.Glu504=) single nucleotide variant Familial cancer of breast [RCV005249891] Chr22:28689165 [GRCh38]
Chr22:29085153 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.-6-14A>G single nucleotide variant Familial cancer of breast [RCV005249945] Chr22:28734741 [GRCh38]
Chr22:29130729 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.222T>A (p.Ile74=) single nucleotide variant Familial cancer of breast [RCV005249952] Chr22:28734500 [GRCh38]
Chr22:29130488 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.*6G>C single nucleotide variant Familial cancer of breast [RCV005249977] Chr22:28687891 [GRCh38]
Chr22:29083879 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.348G>A (p.Gly116=) single nucleotide variant Familial cancer of breast [RCV005249906] Chr22:28725339 [GRCh38]
Chr22:29121327 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.909-13C>T single nucleotide variant Familial cancer of breast [RCV005249927] Chr22:28699950 [GRCh38]
Chr22:29095938 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.445-13T>C single nucleotide variant Familial cancer of breast [RCV005249953] Chr22:28725137 [GRCh38]
Chr22:29121125 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1375+26T>C single nucleotide variant not provided [RCV001730420]|not specified [RCV003320487] Chr22:28695101 [GRCh38]
Chr22:29091089 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1244T>C (p.Val415Ala) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293691] Chr22:28695725 [GRCh38]
Chr22:29091713 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.232C>G (p.Gln78Glu) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV003293693] Chr22:28734490 [GRCh38]
Chr22:29130478 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.369T>G (p.Tyr123Ter) single nucleotide variant Familial cancer of breast [RCV005121957] Chr22:28725318 [GRCh38]
Chr22:29121306 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1336A>C (p.Asn446His) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002258743] Chr22:28695166 [GRCh38]
Chr22:29091154 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.348G>T (p.Gly116=) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259293] Chr22:28725339 [GRCh38]
Chr22:29121327 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.72C>A (p.Ser24Arg) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002259294] Chr22:28734650 [GRCh38]
Chr22:29130638 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.791C>T (p.Ala264Val) single nucleotide variant not provided [RCV001768061] Chr22:28711910 [GRCh38]
Chr22:29107898 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.293C>A (p.Ala98Asp) single nucleotide variant not provided [RCV001786055] Chr22:28734429 [GRCh38]
Chr22:29130417 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1163C>A (p.Pro388His) single nucleotide variant not provided [RCV001766272] Chr22:28695806 [GRCh38]
Chr22:29091794 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+81del deletion Familial cancer of breast [RCV002544352]|not specified [RCV001797927] Chr22:28724896 [GRCh38]
Chr22:29120884 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.983T>C (p.Phe328Ser) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV002386567]|not provided [RCV001795637] Chr22:28699863 [GRCh38]
Chr22:29095851 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1425dup (p.Thr476fs) duplication not provided [RCV001780775] Chr22:28694067..28694068 [GRCh38]
Chr22:29090055..29090056 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.276_303delinsTGGCCCTTCA (p.Trp93_Asp101delinsGlyProSer) indel not provided [RCV001776747] Chr22:28734419..28734446 [GRCh38]
Chr22:29130407..29130434 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1225G>T (p.Asp409Tyr) single nucleotide variant not provided [RCV001801119] Chr22:28695744 [GRCh38]
Chr22:29091732 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-7+2398dup duplication not provided [RCV001733258] Chr22:28739370..28739371 [GRCh38]
Chr22:29135358..29135359 [GRCh37]
Chr22:22q12.1		 benign
NM_007194.4(CHEK2):c.646T>G (p.Leu216Val) single nucleotide variant not provided [RCV001776809] Chr22:28719432 [GRCh38]
Chr22:29115420 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1235G>C (p.Ser412Thr) single nucleotide variant not provided [RCV001777068] Chr22:28695734 [GRCh38]
Chr22:29091722 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.55T>A (p.Ser19Thr) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805247] Chr22:28734667 [GRCh38]
Chr22:29130655 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.208del (p.Glu70fs) deletion not provided [RCV001806495] Chr22:28734514 [GRCh38]
Chr22:29130502 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs) deletion Familial cancer of breast [RCV001869797]|not provided [RCV001818020] Chr22:28695764..28695768 [GRCh38]
Chr22:29091752..29091756 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.346G>C (p.Gly116Arg) single nucleotide variant not specified [RCV001822640] Chr22:28725341 [GRCh38]
Chr22:29121329 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.-6-6_-6-4del deletion Hereditary cancer-predisposing syndrome [RCV001804517] Chr22:28734731..28734733 [GRCh38]
Chr22:29130719..29130721 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1237_1238insG (p.Leu413fs) insertion Hereditary cancer-predisposing syndrome [RCV004607842] Chr22:28695731..28695732 [GRCh38]
Chr22:29091719..29091720 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.683+3A>C single nucleotide variant Hereditary cancer-predisposing syndrome [RCV004607844] Chr22:28719392 [GRCh38]
Chr22:29115380 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.136A>G (p.Met46Val) single nucleotide variant Hereditary cancer-predisposing syndrome [RCV001805648] Chr22:28734586 [GRCh38]
Chr22:29130574 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.908+4A>G single nucleotide variant Familial cancer of breast [RCV002001649] Chr22:28703501 [GRCh38]
Chr22:29099489 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1569_1582dup (p.Glu528fs) duplication Familial cancer of breast [RCV001907723] Chr22:28687946..28687947 [GRCh38]
Chr22:29083934..29083935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.447A>G (p.Glu149=) single nucleotide variant Familial cancer of breast [RCV001971375] Chr22:28725122 [GRCh38]
Chr22:29121110 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1025G>A (p.Gly342Asp) single nucleotide variant Familial cancer of breast [RCV001965983] Chr22:28696971 [GRCh38]
Chr22:29092959 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.461A>T (p.Asn154Ile) single nucleotide variant Familial cancer of breast [RCV001947255]|Hereditary cancer-predisposing syndrome [RCV003164180] Chr22:28725108 [GRCh38]
Chr22:29121096 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer) deletion Familial cancer of breast [RCV001864650]|Hereditary cancer-predisposing syndrome [RCV002386634] Chr22:28695196 [GRCh38]
Chr22:29091184 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1280T>A (p.Phe427Tyr) single nucleotide variant Familial cancer of breast [RCV001971071] Chr22:28695222 [GRCh38]
Chr22:29091210 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1177C>T (p.Pro393Ser) single nucleotide variant Familial cancer of breast [RCV001971074]|Hereditary cancer-predisposing syndrome [RCV004042251] Chr22:28695792 [GRCh38]
Chr22:29091780 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.808G>C (p.Val270Leu) single nucleotide variant Familial cancer of breast [RCV001915591]|Hereditary cancer-predisposing syndrome [RCV002423013] Chr22:28710044 [GRCh38]
Chr22:29106032 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1520_1523dup (p.Pro509fs) microsatellite Familial cancer of breast [RCV002044041] Chr22:28689153..28689154 [GRCh38]
Chr22:29085141..29085142 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter) single nucleotide variant Familial cancer of breast [RCV001928907] Chr22:28725270 [GRCh38]
Chr22:29121258 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.713T>C (p.Phe238Ser) single nucleotide variant Familial cancer of breast [RCV001964628] Chr22:28711988 [GRCh38]
Chr22:29107976 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.29A>T (p.Gln10Leu) single nucleotide variant Familial cancer of breast [RCV001889528] Chr22:28734693 [GRCh38]
Chr22:29130681 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1341del (p.Phe447fs) deletion Familial cancer of breast [RCV001863830] Chr22:28695161 [GRCh38]
Chr22:29091149 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.271G>C (p.Ala91Pro) single nucleotide variant Familial cancer of breast [RCV002009102] Chr22:28734451 [GRCh38]
Chr22:29130439 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1042T>G (p.Leu348Val) single nucleotide variant Familial cancer of breast [RCV001969071] Chr22:28696954 [GRCh38]
Chr22:29092942 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+19G>A single nucleotide variant Familial cancer of breast [RCV002043191] Chr22:28724958 [GRCh38]
Chr22:29120946 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1516A>C (p.Thr506Pro) single nucleotide variant Familial cancer of breast [RCV001971310] Chr22:28689161 [GRCh38]
Chr22:29085149 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1495C>A (p.Leu499Met) single nucleotide variant Familial cancer of breast [RCV002044106] Chr22:28689182 [GRCh38]
Chr22:29085170 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.218C>G (p.Ser73Cys) single nucleotide variant Familial cancer of breast [RCV001928612] Chr22:28734504 [GRCh38]
Chr22:29130492 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095+2T>C single nucleotide variant Familial cancer of breast [RCV001986482] Chr22:28696899 [GRCh38]
Chr22:29092887 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.10:g.(?_29084253)_(29085958_?)del deletion Familial cancer of breast [RCV001987420] Chr22:29084253..29085958 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.70A>C (p.Ser24Arg) single nucleotide variant Familial cancer of breast [RCV001987818] Chr22:28734652 [GRCh38]
Chr22:29130640 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1616G>T (p.Cys539Phe) single nucleotide variant Familial cancer of breast [RCV001895468] Chr22:28687913 [GRCh38]
Chr22:29083901 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn) single nucleotide variant Familial cancer of breast [RCV001984098]|Hereditary cancer-predisposing syndrome [RCV002458951]|not provided [RCV002280201] Chr22:28695867 [GRCh38]
Chr22:29091855 [GRCh37]
Chr22:22q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_007194.4(CHEK2):c.1209_1233dup (p.Ser412delinsValTer) duplication Familial cancer of breast [RCV002007208] Chr22:28695735..28695736 [GRCh38]
Chr22:29091723..29091724 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1121T>C (p.Ile374Thr) single nucleotide variant Familial cancer of breast [RCV001895658] Chr22:28695848 [GRCh38]
Chr22:29091836 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.363T>A (p.Cys121Ter) single nucleotide variant Familial cancer of breast [RCV001873842] Chr22:28725324 [GRCh38]
Chr22:29121312 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.158C>T (p.Ser53Phe) single nucleotide variant Familial cancer of breast [RCV002043789] Chr22:28734564 [GRCh38]
Chr22:29130552 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+16_846+17insTTACATACTTAGATTTATTATTATACTTACATACTTA insertion Familial cancer of breast [RCV001929020] Chr22:28709989..28709990 [GRCh38]
Chr22:29105977..29105978 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.764A>G (p.Lys255Arg) single nucleotide variant Familial cancer of breast [RCV001927209] Chr22:28711937 [GRCh38]
Chr22:29107925 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.644del (p.Ala215fs) deletion Familial cancer of breast [RCV001912768] Chr22:28719434 [GRCh38]
Chr22:29115422 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.714C>G (p.Phe238Leu) single nucleotide variant Familial cancer of breast [RCV002040306]|Hereditary cancer-predisposing syndrome [RCV003161183] Chr22:28711987 [GRCh38]
Chr22:29107975 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.760del (p.Arg254fs) deletion Familial cancer of breast [RCV001890326] Chr22:28711941 [GRCh38]
Chr22:29107929 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1213A>T (p.Asn405Tyr) single nucleotide variant Familial cancer of breast [RCV001983532] Chr22:28695756 [GRCh38]
Chr22:29091744 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-5T>A single nucleotide variant Familial cancer of breast [RCV002005522]|Hereditary cancer-predisposing syndrome [RCV004043239] Chr22:28699942 [GRCh38]
Chr22:29095930 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.518A>T (p.Glu173Val) single nucleotide variant Familial cancer of breast [RCV001946244] Chr22:28725051 [GRCh38]
Chr22:29121039 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1384C>T (p.Leu462Phe) single nucleotide variant Familial cancer of breast [RCV002006521]|Hereditary cancer-predisposing syndrome [RCV004946998] Chr22:28694109 [GRCh38]
Chr22:29090097 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1098_1108dup (p.Gly370fs) duplication Familial cancer of breast [RCV001967626] Chr22:28695860..28695861 [GRCh38]
Chr22:29091848..29091849 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1014_1036dup (p.Arg346fs) duplication Familial cancer of breast [RCV001947848] Chr22:28696959..28696960 [GRCh38]
Chr22:29092947..29092948 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1321A>C (p.Thr441Pro) single nucleotide variant Familial cancer of breast [RCV001872213]|Hereditary cancer-predisposing syndrome [RCV002386614] Chr22:28695181 [GRCh38]
Chr22:29091169 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1406T>G (p.Val469Gly) single nucleotide variant Familial cancer of breast [RCV001968988]|Hereditary cancer-predisposing syndrome [RCV002388956] Chr22:28694087 [GRCh38]
Chr22:29090075 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.993G>A (p.Met331Ile) single nucleotide variant Familial cancer of breast [RCV002042417] Chr22:28699853 [GRCh38]
Chr22:29095841 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.992T>A (p.Met331Lys) single nucleotide variant Familial cancer of breast [RCV001983861] Chr22:28699854 [GRCh38]
Chr22:29095842 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1600A>C (p.Lys534Gln) single nucleotide variant Familial cancer of breast [RCV002002238] Chr22:28687929 [GRCh38]
Chr22:29083917 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.504del (p.Phe169fs) deletion Familial cancer of breast [RCV001893148] Chr22:28725065 [GRCh38]
Chr22:29121053 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1012C>G (p.Leu338Val) single nucleotide variant Familial cancer of breast [RCV001912217] Chr22:28696984 [GRCh38]
Chr22:29092972 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.803T>C (p.Leu268Pro) single nucleotide variant Familial cancer of breast [RCV002021575] Chr22:28710049 [GRCh38]
Chr22:29106037 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1095+2T>A single nucleotide variant Familial cancer of breast [RCV002041727] Chr22:28696899 [GRCh38]
Chr22:29092887 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.272C>T (p.Ala91Val) single nucleotide variant Familial cancer of breast [RCV001890460]|Hereditary cancer-predisposing syndrome [RCV004041271] Chr22:28734450 [GRCh38]
Chr22:29130438 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1159A>T (p.Thr387Ser) single nucleotide variant Familial cancer of breast [RCV002041274] Chr22:28695810 [GRCh38]
Chr22:29091798 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1576G>T (p.Glu526Ter) single nucleotide variant Familial cancer of breast [RCV001928429] Chr22:28687953 [GRCh38]
Chr22:29083941 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.371G>C (p.Cys124Ser) single nucleotide variant Familial cancer of breast [RCV001863351] Chr22:28725316 [GRCh38]
Chr22:29121304 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.320-2A>G single nucleotide variant Familial cancer of breast [RCV002006620] Chr22:28725369 [GRCh38]
Chr22:29121357 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1093_1094dup (p.Ile366fs) duplication Familial cancer of breast [RCV001985253] Chr22:28696901..28696902 [GRCh38]
Chr22:29092889..29092890 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.923A>G (p.Glu308Gly) single nucleotide variant Familial cancer of breast [RCV002040526]|Hereditary cancer-predisposing syndrome [RCV002370705] Chr22:28699923 [GRCh38]
Chr22:29095911 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1204G>T (p.Ala402Ser) single nucleotide variant Familial cancer of breast [RCV001969574] Chr22:28695765 [GRCh38]
Chr22:29091753 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1382A>C (p.Asp461Ala) single nucleotide variant Familial cancer of breast [RCV001913368] Chr22:28694111 [GRCh38]
Chr22:29090099 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.372C>G (p.Cys124Trp) single nucleotide variant Familial cancer of breast [RCV001872679] Chr22:28725315 [GRCh38]
Chr22:29121303 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.739G>C (p.Ala247Pro) single nucleotide variant Familial cancer of breast [RCV002042403] Chr22:28711962 [GRCh38]
Chr22:29107950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1567dup (p.Arg523fs) duplication Familial cancer of breast [RCV001894803] Chr22:28687961..28687962 [GRCh38]
Chr22:29083949..29083950 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.188del (p.Ser62_Leu63insTer) deletion Familial cancer of breast [RCV001969980] Chr22:28734534 [GRCh38]
Chr22:29130522 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1461+3G>C single nucleotide variant Familial cancer of breast [RCV001964791] Chr22:28694029 [GRCh38]
Chr22:29090017 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1279T>A (p.Phe427Ile) single nucleotide variant Familial cancer of breast [RCV001985540]|Hereditary cancer-predisposing syndrome [RCV004044450] Chr22:28695223 [GRCh38]
Chr22:29091211 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1364dup (p.Ser456fs) duplication Familial cancer of breast [RCV001946898]|not provided [RCV003321887] Chr22:28695137..28695138 [GRCh38]
Chr22:29091125..29091126 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1021A>G (p.Asn341Asp) single nucleotide variant Familial cancer of breast [RCV002003231] Chr22:28696975 [GRCh38]
Chr22:29092963 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.996_1006del (p.Leu333fs) deletion Familial cancer of breast [RCV001949025] Chr22:28699840..28699850 [GRCh38]
Chr22:29095828..29095838 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.723A>C (p.Lys241Asn) single nucleotide variant Familial cancer of breast [RCV001987165]|Hereditary cancer-predisposing syndrome [RCV005321002] Chr22:28711978 [GRCh38]
Chr22:29107966 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1116del (p.Lys373fs) deletion Familial cancer of breast [RCV002039751] Chr22:28695853 [GRCh38]
Chr22:29091841 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1540del (p.Gln514fs) deletion Familial cancer of breast [RCV001966858] Chr22:28689137 [GRCh38]
Chr22:29085125 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.911T>G (p.Met304Arg) single nucleotide variant Familial cancer of breast [RCV001968724] Chr22:28699935 [GRCh38]
Chr22:29095923 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.32_35del (p.Gln11fs) deletion Familial cancer of breast [RCV001967957] Chr22:28734687..28734690 [GRCh38]
Chr22:29130675..29130678 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.909-4del deletion Familial cancer of breast [RCV001893477] Chr22:28699941 [GRCh38]
Chr22:29095929 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1339T>C (p.Phe447Leu) single nucleotide variant Familial cancer of breast [RCV001913215]|Hereditary cancer-predisposing syndrome [RCV002386697] Chr22:28695163 [GRCh38]
Chr22:29091151 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1243G>T (p.Val415Phe) single nucleotide variant Familial cancer of breast [RCV002022050] Chr22:28695726 [GRCh38]
Chr22:29091714 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1560G>C (p.Lys520Asn) single nucleotide variant Familial cancer of breast [RCV001965937] Chr22:28687969 [GRCh38]
Chr22:29083957 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.683+2T>A single nucleotide variant Familial cancer of breast [RCV002021691]|Hereditary cancer-predisposing syndrome [RCV003161271] Chr22:28719393 [GRCh38]
Chr22:29115381 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.319+2T>G single nucleotide variant Familial cancer of breast [RCV002005191] Chr22:28734401 [GRCh38]
Chr22:29130389 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1271A>G (p.Tyr424Cys) single nucleotide variant Familial cancer of breast [RCV002041663] Chr22:28695231 [GRCh38]
Chr22:29091219 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29099483)_(29115483_?)dup duplication Familial cancer of breast [RCV002041007] Chr22:29099483..29115483 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1299_1300delinsGT (p.Val434Leu) indel Familial cancer of breast [RCV001969138] Chr22:28695202..28695203 [GRCh38]
Chr22:29091190..29091191 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1630T>C (p.Ter544Arg) single nucleotide variant Familial cancer of breast [RCV001890021]|Hereditary cancer-predisposing syndrome [RCV002397825] Chr22:28687899 [GRCh38]
Chr22:29083887 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.935A>G (p.Lys312Arg) single nucleotide variant Familial cancer of breast [RCV001964652] Chr22:28699911 [GRCh38]
Chr22:29095899 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.473_475dup (p.Ala158_Tyr159insSer) duplication Familial cancer of breast [RCV001889963] Chr22:28725093..28725094 [GRCh38]
Chr22:29121081..29121082 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1472T>G (p.Met491Arg) single nucleotide variant Familial cancer of breast [RCV001966472] Chr22:28689205 [GRCh38]
Chr22:29085193 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.101A>G (p.Gln34Arg) single nucleotide variant Familial cancer of breast [RCV001908661] Chr22:28734621 [GRCh38]
Chr22:29130609 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1141A>T (p.Met381Leu) single nucleotide variant Familial cancer of breast [RCV001908917] Chr22:28695828 [GRCh38]
Chr22:29091816 [GRCh37]
Chr22:22q12.1		 uncertain significance
GRCh37/hg19 22q12.1(chr22:29115517-29146612) copy number loss not specified [RCV002052747] Chr22:29115517..29146612 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.519G>C (p.Glu173Asp) single nucleotide variant Familial cancer of breast [RCV002003030] Chr22:28725050 [GRCh38]
Chr22:29121038 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1258T>C (p.Cys420Arg) single nucleotide variant Familial cancer of breast [RCV001961293] Chr22:28695711 [GRCh38]
Chr22:29091699 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29130713)_(30000111_?)del deletion Neurofibromatosis, type 2 [RCV001982188] Chr22:29130713..30000111 [GRCh37]
Chr22:22q12.1-12.2		 pathogenic
NM_007194.4(CHEK2):c.253C>A (p.Pro85Thr) single nucleotide variant Familial cancer of breast [RCV002037037] Chr22:28734469 [GRCh38]
Chr22:29130457 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.16del (p.Asp6fs) deletion CHEK2-related disorder [RCV004538646]|Familial cancer of breast [RCV001944007]|Hereditary cancer-predisposing syndrome [RCV002407111]|not provided [RCV004999554] Chr22:28734706 [GRCh38]
Chr22:29130694 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.94del (p.Ser32fs) deletion Familial cancer of breast [RCV001942107] Chr22:28734628 [GRCh38]
Chr22:29130616 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.79del (p.Gln27fs) deletion Familial cancer of breast [RCV001916459]|Hereditary cancer-predisposing syndrome [RCV005320959] Chr22:28734643 [GRCh38]
Chr22:29130631 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.395G>T (p.Arg132Ile) single nucleotide variant Familial cancer of breast [RCV002011652] Chr22:28725292 [GRCh38]
Chr22:29121280 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1379del (p.Leu460fs) deletion Familial cancer of breast [RCV001919100] Chr22:28694114 [GRCh38]
Chr22:29090102 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1208G>A (p.Gly403Glu) single nucleotide variant Familial cancer of breast [RCV001880345]|Hereditary cancer-predisposing syndrome [RCV002343896] Chr22:28695761 [GRCh38]
Chr22:29091749 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.460_488dup (p.His163delinsGlnThrLeuThrLeuHisThrTer) duplication Familial cancer of breast [RCV001999759] Chr22:28725080..28725081 [GRCh38]
Chr22:29121068..29121069 [GRCh37]
Chr22:22q12.1		 pathogenic
NC_000022.10:g.(?_29099483)_(29108015_?)dup duplication Familial cancer of breast [RCV001944415] Chr22:29099483..29108015 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29120157)_(29121086_?)del deletion Familial cancer of breast [RCV002027104] Chr22:29120157..29121086 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1249C>G (p.Leu417Val) single nucleotide variant Familial cancer of breast [RCV001899453]|Hereditary cancer-predisposing syndrome [RCV003355592] Chr22:28695720 [GRCh38]
Chr22:29091708 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1226A>T (p.Asp409Val) single nucleotide variant Familial cancer of breast [RCV001935420] Chr22:28695743 [GRCh38]
Chr22:29091731 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter) single nucleotide variant Familial cancer of breast [RCV001903804]|Hereditary cancer-predisposing syndrome [RCV003365539]|Hereditary nonpolyposis colon cancer [RCV005370025] Chr22:28695167 [GRCh38]
Chr22:29091155 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.90CTC[2] (p.Ser33del) microsatellite Familial cancer of breast [RCV001980419] Chr22:28734624..28734626 [GRCh38]
Chr22:29130612..29130614 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1552A>C (p.Ser518Arg) single nucleotide variant Familial cancer of breast [RCV001941281]|Hereditary cancer-predisposing syndrome [RCV003355674] Chr22:28687977 [GRCh38]
Chr22:29083965 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1253T>G (p.Phe418Cys) single nucleotide variant Familial cancer of breast [RCV002051222] Chr22:28695716 [GRCh38]
Chr22:29091704 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.226G>C (p.Glu76Gln) single nucleotide variant Familial cancer of breast [RCV001904157] Chr22:28734496 [GRCh38]
Chr22:29130484 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.680G>T (p.Gly227Val) single nucleotide variant Familial cancer of breast [RCV001904179] Chr22:28719398 [GRCh38]
Chr22:29115386 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.593T>G (p.Val198Gly) single nucleotide variant Familial cancer of breast [RCV001915736]|Hereditary cancer-predisposing syndrome [RCV004042699] Chr22:28719485 [GRCh38]
Chr22:29115473 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.943G>A (p.Gly315Arg) single nucleotide variant Familial cancer of breast [RCV000693431]|not provided [RCV003886431] Chr22:28699903 [GRCh38]
Chr22:29095891 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1051G>A (p.Glu351Lys) single nucleotide variant Familial cancer of breast [RCV000687260]|Hereditary cancer-predisposing syndrome [RCV001017138] Chr22:28696945 [GRCh38]
Chr22:29092933 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.847-7T>C single nucleotide variant Familial cancer of breast [RCV000924571]|Hereditary cancer-predisposing syndrome [RCV001181721] Chr22:28703573 [GRCh38]
Chr22:29099561 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1260-1G>T single nucleotide variant Familial cancer of breast [RCV001042893] Chr22:28695243 [GRCh38]
Chr22:29091231 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.181A>C (p.Ser61Arg) single nucleotide variant Familial cancer of breast [RCV001042898] Chr22:28734541 [GRCh38]
Chr22:29130529 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.199del (p.Ser67fs) deletion Familial cancer of breast [RCV001042949] Chr22:28734523 [GRCh38]
Chr22:29130511 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.445-2A>G single nucleotide variant Familial cancer of breast [RCV000809261]|Hereditary cancer-predisposing syndrome [RCV000777349] Chr22:28725126 [GRCh38]
Chr22:29121114 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.847-33_847-14del deletion Hereditary cancer-predisposing syndrome [RCV000777449] Chr22:28703580..28703599 [GRCh38]
Chr22:29099568..29099587 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.793-12T>G single nucleotide variant Familial cancer of breast [RCV003117569]|Hereditary cancer-predisposing syndrome [RCV000777551] Chr22:28710071 [GRCh38]
Chr22:29106059 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.319+179A>G single nucleotide variant not provided [RCV000842990] Chr22:28734224 [GRCh38]
Chr22:29130212 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1335C>T (p.Tyr445=) single nucleotide variant Familial cancer of breast [RCV001470651]|Hereditary cancer-predisposing syndrome [RCV001010826] Chr22:28695167 [GRCh38]
Chr22:29091155 [GRCh37]
Chr22:22q12.1		 benign|likely benign
NM_007194.4(CHEK2):c.1109G>C (p.Gly370Ala) single nucleotide variant Familial cancer of breast [RCV001234042]|not specified [RCV004596427] Chr22:28695860 [GRCh38]
Chr22:29091848 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.701T>G (p.Val234Gly) single nucleotide variant Familial cancer of breast [RCV001226909] Chr22:28712000 [GRCh38]
Chr22:29107988 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.444_444+1del deletion Familial cancer of breast [RCV001212742] Chr22:28725242..28725243 [GRCh38]
Chr22:29121230..29121231 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.35C>G (p.Ser12Cys) single nucleotide variant Familial cancer of breast [RCV001350466]|Hereditary cancer-predisposing syndrome [RCV001020686] Chr22:28734687 [GRCh38]
Chr22:29130675 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1453T>A (p.Trp485Arg) single nucleotide variant Familial cancer of breast [RCV001035365]|Hereditary cancer-predisposing syndrome [RCV002391090] Chr22:28694040 [GRCh38]
Chr22:29090028 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.523G>C (p.Val175Leu) single nucleotide variant Familial cancer of breast [RCV001049617]|Hereditary cancer-predisposing syndrome [RCV002348390]|not provided [RCV001759777] Chr22:28725046 [GRCh38]
Chr22:29121034 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083885)_(29121365_?)dup duplication Familial cancer of breast [RCV001362897] Chr22:29083885..29121365 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1109G>T (p.Gly370Val) single nucleotide variant Familial cancer of breast [RCV001302629] Chr22:28695860 [GRCh38]
Chr22:29091848 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1575G>C (p.Gly525=) single nucleotide variant Familial cancer of breast [RCV001412857] Chr22:28687954 [GRCh38]
Chr22:29083942 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.368_382del (p.Tyr123_Pro128delinsSer) deletion Familial cancer of breast [RCV001949191] Chr22:28725305..28725319 [GRCh38]
Chr22:29121293..29121307 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.865_876del (p.Lys289_Phe292del) deletion Familial cancer of breast [RCV002048622] Chr22:28703537..28703548 [GRCh38]
Chr22:29099525..29099536 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.229G>A (p.Asp77Asn) single nucleotide variant Familial cancer of breast [RCV001977281] Chr22:28734493 [GRCh38]
Chr22:29130481 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1073A>G (p.Gln358Arg) single nucleotide variant Familial cancer of breast [RCV002038677]|Hereditary cancer-predisposing syndrome [RCV004947061] Chr22:28696923 [GRCh38]
Chr22:29092911 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.974A>G (p.Lys325Arg) single nucleotide variant Familial cancer of breast [RCV001904784] Chr22:28699872 [GRCh38]
Chr22:29095860 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1021A>C (p.Asn341His) single nucleotide variant Familial cancer of breast [RCV001962657] Chr22:28696975 [GRCh38]
Chr22:29092963 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1328G>A (p.Gly443Glu) single nucleotide variant Familial cancer of breast [RCV001881205]|Hereditary cancer-predisposing syndrome [RCV002386645] Chr22:28695174 [GRCh38]
Chr22:29091162 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1380G>A (p.Leu460=) single nucleotide variant Familial cancer of breast [RCV002018571] Chr22:28694113 [GRCh38]
Chr22:29090101 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1154G>C (p.Cys385Ser) single nucleotide variant Familial cancer of breast [RCV001884826] Chr22:28695815 [GRCh38]
Chr22:29091803 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.903_908+26del deletion Familial cancer of breast [RCV002039188] Chr22:28703479..28703510 [GRCh38]
Chr22:29099467..29099498 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.320-3C>G single nucleotide variant Familial cancer of breast [RCV001886913] Chr22:28725370 [GRCh38]
Chr22:29121358 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.774_775del (p.Ile258fs) deletion Familial cancer of breast [RCV001899888] Chr22:28711926..28711927 [GRCh38]
Chr22:29107914..29107915 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.164C>G (p.Ser55Cys) single nucleotide variant Familial cancer of breast [RCV001888833] Chr22:28734558 [GRCh38]
Chr22:29130546 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.743dup (p.Ile250fs) duplication Familial cancer of breast [RCV002000088] Chr22:28711957..28711958 [GRCh38]
Chr22:29107945..29107946 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1170del (p.Leu391fs) deletion Familial cancer of breast [RCV001994829] Chr22:28695799 [GRCh38]
Chr22:29091787 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.408C>G (p.Tyr136Ter) single nucleotide variant Familial cancer of breast [RCV002037950]|Hereditary cancer-predisposing syndrome [RCV002324401] Chr22:28725279 [GRCh38]
Chr22:29121267 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1115C>A (p.Ser372Tyr) single nucleotide variant Familial cancer of breast [RCV001887559] Chr22:28695854 [GRCh38]
Chr22:29091842 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083885)_(29095935_?)dup duplication Familial cancer of breast [RCV001996961] Chr22:29083885..29095935 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1346C>T (p.Pro449Leu) single nucleotide variant Familial cancer of breast [RCV001887080] Chr22:28695156 [GRCh38]
Chr22:29091144 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.742A>T (p.Ile248Leu) single nucleotide variant Familial cancer of breast [RCV002037494] Chr22:28711959 [GRCh38]
Chr22:29107947 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.804_818del (p.Asn269_Glu273del) deletion Familial cancer of breast [RCV002047734] Chr22:28710034..28710048 [GRCh38]
Chr22:29106022..29106036 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.793-8T>G single nucleotide variant Familial cancer of breast [RCV001994916] Chr22:28710067 [GRCh38]
Chr22:29106055 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.1246del (p.Ile416fs) deletion Familial cancer of breast [RCV001941658] Chr22:28695723 [GRCh38]
Chr22:29091711 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.995T>A (p.Leu332His) single nucleotide variant Familial cancer of breast [RCV001887958] Chr22:28699851 [GRCh38]
Chr22:29095839 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1418C>G (p.Ala473Gly) single nucleotide variant Familial cancer of breast [RCV001963616] Chr22:28694075 [GRCh38]
Chr22:29090063 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29121102)_(29125325_?)del deletion Familial cancer of breast [RCV001975044] Chr22:29121102..29125325 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.909-3del deletion Familial cancer of breast [RCV002029278] Chr22:28699940 [GRCh38]
Chr22:29095928 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1091T>A (p.Ile364Lys) single nucleotide variant Familial cancer of breast [RCV001887978] Chr22:28696905 [GRCh38]
Chr22:29092893 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.445-5T>C single nucleotide variant Familial cancer of breast [RCV001980174] Chr22:28725129 [GRCh38]
Chr22:29121117 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.776dup (p.Ser260fs) duplication Familial cancer of breast [RCV001877342]|Hereditary cancer-predisposing syndrome [RCV002406971] Chr22:28711924..28711925 [GRCh38]
Chr22:29107912..29107913 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1550C>T (p.Thr517Ile) single nucleotide variant CHEK2-related disorder [RCV004529031]|Familial cancer of breast [RCV001902067] Chr22:28687979 [GRCh38]
Chr22:29083967 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1123_1124del (p.Leu375fs) deletion Familial cancer of breast [RCV001881696] Chr22:28695845..28695846 [GRCh38]
Chr22:29091833..29091834 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1376-2A>G single nucleotide variant Familial cancer of breast [RCV002029581]|Hereditary cancer-predisposing syndrome [RCV002386915] Chr22:28694119 [GRCh38]
Chr22:29090107 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.891_908+3del deletion Familial cancer of breast [RCV001993776] Chr22:28703502..28703522 [GRCh38]
Chr22:29099490..29099510 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.6_10del (p.Arg3fs) deletion Familial cancer of breast [RCV002014609]|Hereditary cancer-predisposing syndrome [RCV002352646] Chr22:28734712..28734716 [GRCh38]
Chr22:29130700..29130704 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.317T>G (p.Leu106Arg) single nucleotide variant Familial cancer of breast [RCV001902609] Chr22:28734405 [GRCh38]
Chr22:29130393 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.604_606del (p.Phe202del) deletion Familial cancer of breast [RCV001995143] Chr22:28719472..28719474 [GRCh38]
Chr22:29115460..29115462 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1487A>C (p.Gln496Pro) single nucleotide variant Familial cancer of breast [RCV001915643]|Hereditary cancer-predisposing syndrome [RCV002388811] Chr22:28689190 [GRCh38]
Chr22:29085178 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.825A>T (p.Glu275Asp) single nucleotide variant Familial cancer of breast [RCV001995774]|Hereditary cancer-predisposing syndrome [RCV004042496] Chr22:28710027 [GRCh38]
Chr22:29106015 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1306C>A (p.Leu436Met) single nucleotide variant Familial cancer of breast [RCV001971848] Chr22:28695196 [GRCh38]
Chr22:29091184 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.511A>C (p.Asn171His) single nucleotide variant Familial cancer of breast [RCV002013227] Chr22:28725058 [GRCh38]
Chr22:29121046 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.827T>A (p.Ile276Asn) single nucleotide variant Familial cancer of breast [RCV002045893] Chr22:28710025 [GRCh38]
Chr22:29106013 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.684-1G>C single nucleotide variant Familial cancer of breast [RCV001994083] Chr22:28712018 [GRCh38]
Chr22:29108006 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.908T>C (p.Leu303Ser) single nucleotide variant Familial cancer of breast [RCV001975689]|Hereditary cancer-predisposing syndrome [RCV004042182] Chr22:28703505 [GRCh38]
Chr22:29099493 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1462G>C (p.Asp488His) single nucleotide variant Familial cancer of breast [RCV001917139] Chr22:28689215 [GRCh38]
Chr22:29085203 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.296T>G (p.Leu99Arg) single nucleotide variant Familial cancer of breast [RCV001866642] Chr22:28734426 [GRCh38]
Chr22:29130414 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1061T>A (p.Leu354Ter) single nucleotide variant Familial cancer of breast [RCV001974737]|Hereditary cancer-predisposing syndrome [RCV004946908] Chr22:28696935 [GRCh38]
Chr22:29092923 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.46_61del (p.Ser16fs) deletion Familial cancer of breast [RCV001994712] Chr22:28734661..28734676 [GRCh38]
Chr22:29130649..29130664 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.846+4A>G single nucleotide variant Familial cancer of breast [RCV001995937]|Hereditary cancer-predisposing syndrome [RCV004946986] Chr22:28710002 [GRCh38]
Chr22:29105990 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1009-2A>T single nucleotide variant Familial cancer of breast [RCV002050009] Chr22:28696989 [GRCh38]
Chr22:29092977 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.495_496insTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTCCACGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAGATCACAGTGGC (p.Asn166fs) insertion Familial cancer of breast [RCV001936746] Chr22:28725073..28725074 [GRCh38]
Chr22:29121061..29121062 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.908+6T>A single nucleotide variant Familial cancer of breast [RCV002033192] Chr22:28703499 [GRCh38]
Chr22:29099487 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.909-14C>T single nucleotide variant Familial cancer of breast [RCV002012634] Chr22:28699951 [GRCh38]
Chr22:29095939 [GRCh37]
Chr22:22q12.1		 likely benign
NM_007194.4(CHEK2):c.1096-2A>G single nucleotide variant Familial cancer of breast [RCV001989399]|Hereditary cancer-predisposing syndrome [RCV004612084] Chr22:28695875 [GRCh38]
Chr22:29091863 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1125G>C (p.Leu375Phe) single nucleotide variant Familial cancer of breast [RCV002013817] Chr22:28695844 [GRCh38]
Chr22:29091832 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.792+19C>T single nucleotide variant Familial cancer of breast [RCV002031896] Chr22:28711890 [GRCh38]
Chr22:29107878 [GRCh37]
Chr22:22q12.1		 likely benign|uncertain significance
NM_007194.4(CHEK2):c.575C>T (p.Ser192Leu) single nucleotide variant Familial cancer of breast [RCV002027876]|Hereditary cancer-predisposing syndrome [RCV002346323]|not provided [RCV004809735] Chr22:28724994 [GRCh38]
Chr22:29120982 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1009-3T>G single nucleotide variant Familial cancer of breast [RCV001979370] Chr22:28696990 [GRCh38]
Chr22:29092978 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.421A>G (p.Lys141Glu) single nucleotide variant Familial cancer of breast [RCV001883735]|Hereditary cancer-predisposing syndrome [RCV004611941] Chr22:28725266 [GRCh38]
Chr22:29121254 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.445-8_446del deletion Familial cancer of breast [RCV002018750]|Hereditary cancer-predisposing syndrome [RCV002331557] Chr22:28725123..28725132 [GRCh38]
Chr22:29121111..29121120 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NC_000022.10:g.(?_29083885)_(29095935_?)del deletion Familial cancer of breast [RCV001951590] Chr22:29083885..29095935 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.792+6T>G single nucleotide variant Familial cancer of breast [RCV001917753] Chr22:28711903 [GRCh38]
Chr22:29107891 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.737_782dup (p.Arg262fs) duplication Familial cancer of breast [RCV001939635] Chr22:28711918..28711919 [GRCh38]
Chr22:29107906..29107907 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.266C>A (p.Thr89Asn) single nucleotide variant Familial cancer of breast [RCV001906902]|Hereditary cancer-predisposing syndrome [RCV004042705] Chr22:28734456 [GRCh38]
Chr22:29130444 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.361del (p.Cys121fs) deletion Familial cancer of breast [RCV001922524] Chr22:28725326 [GRCh38]
Chr22:29121314 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1461+1G>C single nucleotide variant Familial cancer of breast [RCV001974161] Chr22:28694031 [GRCh38]
Chr22:29090019 [GRCh37]
Chr22:22q12.1		 likely pathogenic
NM_007194.4(CHEK2):c.1046dup (p.Pro350fs) duplication Familial cancer of breast [RCV002014496] Chr22:28696949..28696950 [GRCh38]
Chr22:29092937..29092938 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) single nucleotide variant Breast carcinoma [RCV002267643]|CHEK2-related cancer predisposition [RCV003136370]|Familial cancer of breast [RCV001994743]|Hereditary cancer-predisposing syndrome [RCV002458883] Chr22:28725345 [GRCh38]
Chr22:29121333 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1022A>G (p.Asn341Ser) single nucleotide variant Familial cancer of breast [RCV001883871] Chr22:28696974 [GRCh38]
Chr22:29092962 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.352G>A (p.Asp118Asn) single nucleotide variant Familial cancer of breast [RCV001991292] Chr22:28725335 [GRCh38]
Chr22:29121323 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1262T>C (p.Leu421Pro) single nucleotide variant Familial cancer of breast [RCV002029690] Chr22:28695240 [GRCh38]
Chr22:29091228 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.674C>G (p.Thr225Ser) single nucleotide variant Familial cancer of breast [RCV001979521] Chr22:28719404 [GRCh38]
Chr22:29115392 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1030del (p.Ile344fs) deletion Familial cancer of breast [RCV001899446]|not provided [RCV004998981] Chr22:28696966 [GRCh38]
Chr22:29092954 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1559del (p.Lys520fs) deletion Familial cancer of breast [RCV001919405] Chr22:28687970 [GRCh38]
Chr22:29083958 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.277_290del (p.Trp93fs) deletion Familial cancer of breast [RCV002051030] Chr22:28734432..28734445 [GRCh38]
Chr22:29130420..29130433 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.592+16_592+17insGGTAATATTATTATCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCAGCC insertion Familial cancer of breast [RCV001961434] Chr22:28724960..28724961 [GRCh38]
Chr22:29120948..29120949 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.170C>A (p.Ser57Tyr) single nucleotide variant Familial cancer of breast [RCV001959931] Chr22:28734552 [GRCh38]
Chr22:29130540 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1314del (p.Gln439fs) deletion Familial cancer of breast [RCV001939934] Chr22:28695188 [GRCh38]
Chr22:29091176 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1266T>A (p.Ser422Arg) single nucleotide variant Familial cancer of breast [RCV002026091] Chr22:28695236 [GRCh38]
Chr22:29091224 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.883G>A (p.Glu295Lys) single nucleotide variant Familial cancer of breast [RCV001991585]|Hereditary cancer-predisposing syndrome [RCV003170476] Chr22:28703530 [GRCh38]
Chr22:29099518 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1562G>T (p.Arg521Leu) single nucleotide variant Familial cancer of breast [RCV002019648]|Hereditary cancer-predisposing syndrome [RCV002398078] Chr22:28687967 [GRCh38]
Chr22:29083955 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.167G>C (p.Ser56Thr) single nucleotide variant Familial cancer of breast [RCV002019660] Chr22:28734555 [GRCh38]
Chr22:29130543 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.109G>C (p.Gly37Arg) single nucleotide variant Familial cancer of breast [RCV001954975]|Hereditary cancer-predisposing syndrome [RCV002442874] Chr22:28734613 [GRCh38]
Chr22:29130601 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1481A>T (p.Lys494Met) single nucleotide variant Familial cancer of breast [RCV002035860] Chr22:28689196 [GRCh38]
Chr22:29085184 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.325G>A (p.Val109Met) single nucleotide variant CHEK2-related disorder [RCV004529033]|Familial cancer of breast [RCV001886008]|Hereditary cancer-predisposing syndrome [RCV002324270]|not provided [RCV005412298] Chr22:28725362 [GRCh38]
Chr22:29121350 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.846+3A>T single nucleotide variant Familial cancer of breast [RCV001989145] Chr22:28710003 [GRCh38]
Chr22:29105991 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.283_288del (p.Arg95_Leu96del) deletion Familial cancer of breast [RCV002050068] Chr22:28734434..28734439 [GRCh38]
Chr22:29130422..29130427 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1260-5T>G single nucleotide variant Familial cancer of breast [RCV001960050]|Hereditary cancer-predisposing syndrome [RCV005320995] Chr22:28695247 [GRCh38]
Chr22:29091235 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.892del (p.Tyr298fs) deletion Familial cancer of breast [RCV001993122]|Hereditary cancer-predisposing syndrome [RCV003303492] Chr22:28703521 [GRCh38]
Chr22:29099509 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.737_739del (p.Val246del) deletion Familial cancer of breast [RCV001934502]|Hereditary cancer-predisposing syndrome [RCV002386619] Chr22:28711962..28711964 [GRCh38]
Chr22:29107950..29107952 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1452del (p.Trp485fs) deletion Familial cancer of breast [RCV001866749] Chr22:28694041 [GRCh38]
Chr22:29090029 [GRCh37]
Chr22:22q12.1		 pathogenic|likely pathogenic
NM_007194.4(CHEK2):c.1543-1G>C single nucleotide variant Familial cancer of breast [RCV001882986] Chr22:28687987 [GRCh38]
Chr22:29083975 [GRCh37]
Chr22:22q12.1		 likely pathogenic|uncertain significance
NM_007194.4(CHEK2):c.1095+3A>G single nucleotide variant Familial cancer of breast [RCV001877061] Chr22:28696898 [GRCh38]
Chr22:29092886 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1581del (p.Glu528fs) deletion Familial cancer of breast [RCV002050308] Chr22:28687948 [GRCh38]
Chr22:29083936 [GRCh37]
Chr22:22q12.1		 uncertain significance
NC_000022.10:g.(?_29083885)_(29108015_?)del deletion Familial cancer of breast [RCV001958893] Chr22:29083885..29108015 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1547C>T (p.Ser516Phe) single nucleotide variant Familial cancer of breast [RCV001973700]|Hereditary cancer-predisposing syndrome [RCV005321044] Chr22:28687982 [GRCh38]
Chr22:29083970 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1583_1602dup (p.Pro536fs) duplication Familial cancer of breast [RCV001879741] Chr22:28687926..28687927 [GRCh38]
Chr22:29083914..29083915 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1343_1344del (p.Ile448fs) deletion Familial cancer of breast [RCV001951330] Chr22:28695158..28695159 [GRCh38]
Chr22:29091146..29091147 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.689C>A (p.Ala230Asp) single nucleotide variant Familial cancer of breast [RCV001926169]|Hereditary cancer-predisposing syndrome [RCV002370533] Chr22:28712012 [GRCh38]
Chr22:29108000 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.1015C>A (p.His339Asn) single nucleotide variant Familial cancer of breast [RCV002030470]|Hereditary cancer-predisposing syndrome [RCV002335017] Chr22:28696981 [GRCh38]
Chr22:29092969 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.432T>A (p.Phe144Leu) single nucleotide variant Familial cancer of breast [RCV001902364]|Hereditary cancer-predisposing syndrome [RCV004946801] Chr22:28725255 [GRCh38]
Chr22:29121243 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.683+5A>C single nucleotide variant Familial cancer of breast [RCV001880848] Chr22:28719390 [GRCh38]
Chr22:29115378 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.547_548del (p.Leu183fs) deletion Familial cancer of breast [RCV001958928] Chr22:28725021..28725022 [GRCh38]
Chr22:29121009..29121010 [GRCh37]
Chr22:22q12.1		 pathogenic
NM_007194.4(CHEK2):c.1491TCT[1] (p.Leu499del) microsatellite Familial cancer of breast [RCV001904620]|Hereditary cancer-predisposing syndrome [RCV002388723] Chr22:28689181..28689183 [GRCh38]
Chr22:29085169..29085171 [GRCh37]
Chr22:22q12.1		 uncertain significance
NM_007194.4(CHEK2):c.818A>G (p.Glu273Gly) single nucleotide variant Familial cancer of breast [RCV001924953] Chr22:28710034 [GRCh38]
Chr22:29106022 [GRCh37]
Chr22:22q12.1		 uncertain significance