Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. 27159176

2016
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR ATM mutations in patients with hereditary pancreatic cancer. 22585167

2012
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR DNA repair alterations in children with pediatric malignancies: novel opportunities to identify patients at risk for high-grade toxicities. 20153123

2010
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405

2005
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405

2005
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Cancer risk according to type and location of ATM mutation in ataxia-telangiectasia families. 15390180

2005
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Contributions of ATM mutations to familial breast and ovarian cancer. 12810666

2003
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 GeneticVariation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs139770721
rs139770721
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences. 10330348

1999