Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517596
rs1057517596
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502684
rs1060502684
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055

2014
dbSNP: rs1060502684
rs1060502684
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. 21244692

2011
dbSNP: rs1060502684
rs1060502684
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR A novel germline CHEK2 deletion truncating the kinase domain identified in a French family with high-risk of breast/ovarian cancer. 19768534

2010
dbSNP: rs1060502684
rs1060502684
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. 21244692

2011
dbSNP: rs1060502684
rs1060502684
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A novel germline CHEK2 deletion truncating the kinase domain identified in a French family with high-risk of breast/ovarian cancer. 19768534

2010
dbSNP: rs1060502687
rs1060502687
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1060502698
rs1060502698
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502710
rs1060502710
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Beyond BRCA: new hereditary breast cancer susceptibility genes. 25467110

2015
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400

2014
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR CHK2 kinase: cancer susceptibility and cancer therapy - two sides of the same coin? 18004398

2007
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428

2001
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The risk of gastric cancer in carriers of CHEK2 mutations. 23296741

2013
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR CHEK2 is a multiorgan cancer susceptibility gene. 15492928

2004
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma. 26506619

2015
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083

2011
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083

2011
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility. 21807500

2011
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR A risk of breast cancer in women - carriers of constitutional CHEK2 gene mutations, originating from the North - Central Poland. 24713400

2014
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR CHEK2 1100delC and male breast cancer in the Netherlands. 18759107

2009
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype. 19338683

2009
dbSNP: rs1060502716
rs1060502716
CHEK2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer. 21876083

2011