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
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: 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: 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: rs587781672
rs587781672
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: rs759965045
rs759965045
C 0.700 GeneticVariation CLINVAR Comparative Study of the Treatment of Tuberculous Cervical Lymphadenitis with Special Reference of Streptomycin, P.A.S. and Isonicotinic Acid Hydrazide. 29015585

1953

dbSNP: rs587782276
rs587782276
ATM
G 0.700 GeneticVariation CLINVAR Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017). 28956312

2017

dbSNP: rs587781831
rs587781831
ATM
C 0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017

dbSNP: rs781215442
rs781215442
T 0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017

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

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

dbSNP: rs730881336
rs730881336
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

dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021

2017

dbSNP: rs587779833
rs587779833
ATM
G 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017

dbSNP: rs371638537
rs371638537
T 0.700 CausalMutation CLINVAR Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations. 28007021

2016

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: rs376603775
rs376603775
ATM
T 0.700 CausalMutation CLINVAR Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran. 27980538

2016

dbSNP: rs786202800
rs786202800
A 0.700 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017

dbSNP: rs587782719
rs587782719
A 0.700 CausalMutation CLINVAR Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 27913932

2017

dbSNP: rs1057519330
rs1057519330
ATM
A 0.700 GeneticVariation CLINVAR Ataxia telangiectasia: a review. 27884168

2016

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: rs753961188
rs753961188
CT 0.700 CausalMutation CLINVAR Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. 27873105

2017