Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. 26296701

2015
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Myoclonus in ataxia-telangiectasia. 25793145

2015
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR New mutations in the ATM gene and clinical data of 25 AT patients. 21965147

2011
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198

2011
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. 21445571

2011
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Discovering moderate-risk breast cancer susceptibility genes. 20346647

2010
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. 15039971

2004
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. 12815592

2003
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs730881294
rs730881294
ATM ; C11orf65
T 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