Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias. 27528516

2016
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400

2011
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 18634022

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Variants in the ATM gene and breast cancer susceptibility. 19348699

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Attenuated presentation of ataxia-telangiectasia with familial cancer history. 18575927

2008
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. 17001622

2006
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. 16958054

2006
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Two ATM variants and breast cancer risk. 15880680

2005
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Cancer risks and mortality in heterozygous ATM mutation carriers. 15928302

2005
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Contributions of ATM mutations to familial breast and ovarian cancer. 12810666

2003
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR ATM heterozygosity and cancer risk. 12205473

2002
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Dominant negative ATM mutations in breast cancer families. 11830610

2002
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations. 10607471

1999
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer. 10534763

1999
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314

1998
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996