Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 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: rs587779866
rs587779866
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Ten new ATM alterations in Polish patients with ataxia-telangiectasia. 25614872

2014
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome. 25374739

2013
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR A precocious cerebellar ataxia and frequent Fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome. 25374739

2013
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. 23807571

2013
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. 21665257

2011
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. 21833744

2011
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. 21833744

2011
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. 16266405

2005
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations. 15039971

2004
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region. 12646636

2003
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
G 0.700 CausalMutation CLINVAR Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998
dbSNP: rs587779866
rs587779866
ATM ; C11orf65
G 0.700 GeneticVariation CLINVAR