Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782652
rs587782652
0.710 GeneticVariation BEFREE The oldest patient with A-T reported so far was a 78-year-old patient who was compound heterozygous for <i>ATM</i> c.8147T>C. 30819809

2019

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR Clinical variability in ataxia-telangiectasia. 25957637

2015

dbSNP: rs587782652
rs587782652
C 0.710 GeneticVariation CLINVAR New mutations in the ATM gene and clinical data of 25 AT patients. 21965147

2011

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR New mutations in the ATM gene and clinical data of 25 AT patients. 21965147

2011

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR Ataxia telangiectasia: the consequences of a delayed diagnosis. 21354641

2011

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR Clinical spectrum of ataxia-telangiectasia in adulthood. 19535770

2009

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR Ataxia-telangiectasia: without ataxia or telangiectasia? 19605768

2009

dbSNP: rs587782652
rs587782652
C 0.710 GeneticVariation CLINVAR Clinical spectrum of ataxia-telangiectasia in adulthood. 19535770

2009

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. 16864838

2006

dbSNP: rs587782652
rs587782652
C 0.710 GeneticVariation CLINVAR Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia. 16864838

2006

dbSNP: rs587782652
rs587782652
C 0.710 GeneticVariation CLINVAR Functional consequences of sequence alterations in the ATM gene. 15279808

2005

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 11805335

2002

dbSNP: rs587782652
rs587782652
C 0.710 GeneticVariation CLINVAR Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer. 11805335

2002

dbSNP: rs587782652
rs587782652
C 0.710 CausalMutation CLINVAR "Comments on: ""Two Routes for Renal 99mTc-DMSA Uptake into the Renal Cortical Tubular Cell""." 2557216

1989