Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371638537
rs371638537
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: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. 28007021

2016
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658

2015
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer. 25503501

2015
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Functional and molecular defects of hiPSC-derived neurons from patients with ATM deficiency. 25032865

2014
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR ATM mutations in patients with hereditary pancreatic cancer. 22585167

2012
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele. 21933854

2012
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele. 21933854

2012
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR ATM mutations in patients with hereditary pancreatic cancer. 22585167

2012
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Comprehensive scanning of the ATM gene with DOVAM-S. 12552559

2003
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Ataxia telangiectasia mutated-deficient B-cell chronic lymphocytic leukemia occurs in pregerminal center cells and results in defective damage response and unrepaired chromosome damage. 11756185

2002
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 GeneticVariation 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: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998
dbSNP: rs371638537
rs371638537
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
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996
dbSNP: rs371638537
rs371638537
ATM ; C11orf65
T 0.700 GeneticVariation CLINVAR Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening. 8659541

1996