Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949

2016
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. 26483394

2016
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621

2014
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621

2014
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes. 23454770

2013
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. 21833744

2011
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers. 14970866

2004
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR DNA damage-induced cell-cycle phase regulation of p53 and p21waf1 in normal and ATM-defective cells. 14586414

2003
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. 12497634

2003
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Designing and implementing quality control for multi-center screening of mutations in the ATM gene among women with breast cancer. 12673797

2003
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996
dbSNP: rs121434220
rs121434220
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR A high frequency of distinct ATM gene mutations in ataxia-telangiectasia. 8808599

1996