Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs587776551
rs587776551
ATM
0.720 GeneticVariation BEFREE Compared with 51 patients with classic A-T from the Dutch cohort, patients with <i>ATM</i> c.3576G>A had a longer survival and were less likely to develop cancer, respiratory disease or immunodeficiency. 30819809

2019

dbSNP: rs587776551
rs587776551
ATM
0.720 GeneticVariation BEFREE The c.3576G>A (p.K1192=) was the most common homozygous pathogenic ATM variant (33.33%) that was associated with milder phenotype of ataxia telangiectasia (AT) with the onset of age of 3. 31741144

2020

dbSNP: rs587779852
rs587779852
0.720 GeneticVariation BEFREE The Mennonite mutation, 5932 G>T, is common in Russian A-T families, and the STR haplovariants are the same in both Poland and Russia. 16266405

2005

dbSNP: rs587779852
rs587779852
0.720 GeneticVariation BEFREE We now report that a nonsense mutation, p.E1978X (c.5932G>T), is both a classical A-T mutation and a breast cancer susceptibility allele in Eastern European populations. 18807267

2009

dbSNP: rs587779815
rs587779815
ATM
0.710 GeneticVariation BEFREE In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan). 15164409

2004

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: rs770641163
rs770641163
0.710 GeneticVariation BEFREE The sibling with ataxia telangiectasia revealed a homozygous p.Arg2993Stop (c.8977C>T) null mutation in the ATM gene. 30339652

2019

dbSNP: rs2234997
rs2234997
ATM
0.010 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: rs376676328
rs376676328
0.010 GeneticVariation BEFREE Additionally, 8734A>G (Arg2912Gly) associated previously with breast cancer susceptibility and suggested to be causative also for A-T was detected in 2/541 of familial cases, but not in unselected cases (0/1124) or controls (0/1107). 17166884

2007

dbSNP: rs730881394
rs730881394
0.010 GeneticVariation BEFREE We describe a woman with variant AT with two novel mutations in ATM (IVS14+2T>G and 5825C>T, p.A1942V) who died at age 48 with pancreatic adenocarcinoma. 24090759

2013

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 Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

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 CausalMutation 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 ATM is usually rearranged in T-cell prolymphocytic leukaemia. 9488043

1998

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

2000

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 Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays. 9872980

1998

dbSNP: rs587782292
rs587782292
T 0.810 GeneticVariation CLINVAR Biallelic mutations in the ATM gene in T-prolymphocytic leukemia. 9334731

1997

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 GeneticVariation CLINVAR Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. 21459046

2011

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

2000