Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs121434216
rs121434216
ATM ; C11orf65
G 0.800 GeneticVariation CLINVAR Ataxia telangiectasia: more variation at clinical and cellular levels. 25040471

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Prevalence of deleterious ATM germline mutations in gastric cancer patients. 26506520

2015
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: rs28904921
rs28904921
ATM ; C11orf65
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

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

2014
dbSNP: rs564652222
rs564652222
ATM ; C11orf65
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs587781302
rs587781302
ATM ; C11orf65
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs587781511
rs587781511
ATM
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs587782202
rs587782202
ATM ; C11orf65
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs730881391
rs730881391
ATM
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs747727055
rs747727055
ATM
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs786202826
rs786202826
ATM ; C11orf65
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

2014
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 24418350

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