Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587782292
rs587782292
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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: rs587776551
rs587776551
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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: rs587779852
rs587779852
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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: rs587779852
rs587779852
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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: rs587779815
rs587779815
ATM
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
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