Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750070
rs63750070
MSH2
C 0.700 GeneticVariation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs63750070
rs63750070
MSH2
C 0.700 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008
dbSNP: rs63750070
rs63750070
MSH2
C 0.700 GeneticVariation CLINVAR Mechanisms of pathogenicity in human MSH2 missense mutants. 18951462

2008
dbSNP: rs63750070
rs63750070
MSH2
C 0.700 GeneticVariation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722

2007
dbSNP: rs63750070
rs63750070
MSH2
C 0.700 GeneticVariation CLINVAR The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC. 16327991

2006
dbSNP: rs63750070
rs63750070
MSH2
C 0.700 GeneticVariation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs63750070
rs63750070
MSH2
C 0.700 GeneticVariation CLINVAR Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317

2006
dbSNP: rs63750070
rs63750070
MSH2
C 0.700 GeneticVariation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733

2005
dbSNP: rs63750070
rs63750070
MSH2
G 0.700 CausalMutation CLINVAR