Gene: ATM ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs587781511
rs587781511
ATM
G 0.800 GeneticVariation CLINVAR 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: 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: 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
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: rs587779834
rs587779834
ATM
A 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

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: 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: rs587782719
rs587782719
ATM ; C11orf65
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: 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: rs730881386
rs730881386
ATM ; C11orf65
C 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

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: rs753961188
rs753961188
ATM ; C11orf65
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
dbSNP: rs781215442
rs781215442
ATM ; C11orf65
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: rs786202087
rs786202087
ATM ; C11orf65
G 0.700 GeneticVariation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017
dbSNP: rs786202800
rs786202800
ATM ; C11orf65
A 0.700 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. 27595995

2016
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
G 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs587779872
rs587779872
ATM ; C11orf65
T 0.800 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016