Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Thyroid cancer in a patient with Lynch syndrome - case report and literature review. 28769567

2017
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660

2016
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 25559809

2015
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Mismatch repair deficient-crypts in non-neoplastic colonic mucosa in Lynch syndrome: insights from an illustrative case. 25173403

2015
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Mechanisms of pathogenicity in human MSH2 missense mutants. 18951462

2008
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. 17720936

2007
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein. 17101317

2006
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Routine testing for mismatch repair deficiency in sporadic colorectal cancer is justified. 16175654

2005
dbSNP: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation 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: rs63750828
rs63750828
MSH2
A 0.700 CausalMutation CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141

2003