Gene: ATM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs587782652
rs587782652
ATM ; C11orf65
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
ATM ; C11orf65
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: rs1478081526
rs1478081526
ATM
TA 0.700 GeneticVariation CLINVAR A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study. 30482293

2019
dbSNP: rs587781672
rs587781672
ATM ; C11orf65
T 0.700 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018
dbSNP: rs876658502
rs876658502
ATM
TA 0.700 CausalMutation CLINVAR Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers. 29665859

2018
dbSNP: rs587782292
rs587782292
ATM ; C11orf65
0.810 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs121434216
rs121434216
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs397514577
rs397514577
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs587781302
rs587781302
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs587781511
rs587781511
ATM
G 0.800 GeneticVariation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs587781511
rs587781511
ATM
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs587782202
rs587782202
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs786202826
rs786202826
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs786203054
rs786203054
ATM
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs786203054
rs786203054
ATM
G 0.800 GeneticVariation CLINVAR Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death. 27989354

2017
dbSNP: rs876659365
rs876659365
ATM ; C11orf65
0.800 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs1060501609
rs1060501609
ATM
C 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs1060501657
rs1060501657
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs121434218
rs121434218
ATM ; C11orf65
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs1555092430
rs1555092430
ATM
T 0.700 CausalMutation CLINVAR Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. 27873105

2017
dbSNP: rs1555104609
rs1555104609
ATM
T 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021

2017