Gene: ATM ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR Ataxia-telangiectasia with female fertility. 25914063

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792

2014
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR Cognitive phenotype in ataxia-telangiectasia. 25037873

2014
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR We studied 10 Mennonite patients who carry the c.6200C>A missense mutation (p.A2067D) in the ATM gene, all of whom exhibited a phenotypic variant of ataxia-telangiectasia (A-T) that is characterized by early-onset dystonia and late-onset mild ataxia, as previously described. 25077176

2014
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Isolated generalized dystonia in biallelic missense mutations of the ATM gene. 23640770

2013
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Newborn screening for SCID identifies patients with ataxia telangiectasia. 23264026

2013
dbSNP: rs587781511
rs587781511
ATM
G 0.800 GeneticVariation CLINVAR SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs. 23652012

2013
dbSNP: rs747727055
rs747727055
ATM
T 0.800 GeneticVariation CLINVAR Newborn screening for SCID identifies patients with ataxia telangiectasia. 23264026

2013
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. 22345219

2012
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
A 0.800 CausalMutation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. 22213089

2012
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 GeneticVariation CLINVAR Neuropathology in classical and variant ataxia-telangiectasia. 22017321

2012
dbSNP: rs730881391
rs730881391
ATM
C 0.800 GeneticVariation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400

2011
dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. 21792198

2011
dbSNP: rs876659365
rs876659365
ATM ; C11orf65
G 0.800 GeneticVariation CLINVAR Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 21665257

2011
dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Low levels of ATM in breast cancer patients with clinical radiosensitivity. 20678261

2010
dbSNP: rs121434216
rs121434216
ATM ; C11orf65
G 0.800 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 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 0.800 GeneticVariation 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 0.800 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682

2009
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. 18634022

2009