Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587782292
rs587782292
T 0.810 CausalMutation CLINVAR Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. 26094658

2015

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Computational refinement of functional single nucleotide polymorphisms associated with ATM gene. 22529920

2012

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046

2011

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Modeling ATM mutant proteins from missense changes confirms retained kinase activity. 19431188

2009

dbSNP: rs587782292
rs587782292
T 0.810 CausalMutation CLINVAR Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients. 18573109

2008

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients. 18573109

2008

dbSNP: rs587782292
rs587782292
T 0.810 CausalMutation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Functional consequences of ATM sequence variants for chromosomal radiosensitivity. 15101044

2004

dbSNP: rs587782292
rs587782292
T 0.810 CausalMutation CLINVAR The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566

2003

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566

2003

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation BEFREE The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566

2003

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Mantle cell lymphoma is characterized by inactivation of the ATM gene. 10706620

2000

dbSNP: rs587782292
rs587782292
T 0.810 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650

2000

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Characterization of ATM gene mutations in 66 ataxia telangiectasia families. 9887333

1999

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Rapid and efficient ATM mutation detection by fluorescent chemical cleavage of mismatch: identification of four novel mutations. 10234507

1999

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain. 9450874

1998

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. 9521587

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. 9443866

1998

dbSNP: rs587782292
rs587782292
0.810 GeneticVariation UNIPROT Genotype-phenotype relationships in ataxia-telangiectasia and variants. 9497252

1998