Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781299
rs587781299
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs587781299
rs587781299
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Improving performance of multigene panels for genomic analysis of cancer predisposition. 26845104 2016
dbSNP: rs587781299
rs587781299
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
dbSNP: rs587781299
rs587781299
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Exome resequencing identifies potential tumor-suppressor genes that predispose to colorectal cancer. 23585368 2013
dbSNP: rs587781299
rs587781299
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Rare variants in the ATM gene and risk of breast cancer. 21787400 2011
dbSNP: rs587781299
rs587781299
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. 19781682 2009
dbSNP: rs587781299
rs587781299
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients. 10817650 2000
dbSNP: rs587781299
rs587781299
Entrez Id: 472;160140
Gene Symbol: ATM;C11orf65
ATM;C11orf65
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer. 9463314 1998