Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Novel ATM mutations with ataxia-telangiectasia. 26628246

2016
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Requirement of the FATC domain of protein kinase Tel1 for localization to DNA ends and target protein recognition. 26246601

2015
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727

2015
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR NMR- and circular dichroism-monitored lipid binding studies suggest a general role for the FATC domain as membrane anchor of phosphatidylinositol 3-kinase-related kinases (PIKK). 23671275

2013
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR New mutations in the ATM gene and clinical data of 25 AT patients. 21965147

2011
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families. 19691550

2009
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Critical involvement of the ATM-dependent DNA damage response in the apoptotic demise of HIV-1-elicited syncytia. 18560558

2008
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR The FATC domains of PIKK proteins are functionally equivalent and participate in the Tip60-dependent activation of DNA-PKcs and ATM. 16603769

2006
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. 15039971

2004
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia. 10980530

2000
dbSNP: rs587780645
rs587780645
ATM ; C11orf65
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		CA 0.700 GeneticVariation CLINVAR Mutations associated with variant phenotypes in ataxia-telangiectasia. 8755918

1996