Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome. 23690608

2013
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Mechanisms of pathogenicity in human MSH2 missense mutants. 18951462

2008
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722

2007
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. 17192056

2006
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317

2006
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs63751477
rs63751477
MSH2
A 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: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141

2003
dbSNP: rs63751477
rs63751477
MSH2
A 0.700 GeneticVariation CLINVAR Separation-of-function mutations in Saccharomyces cerevisiae MSH2 that confer mismatch repair defects but do not affect nonhomologous-tail removal during recombination. 10523644

1999