Gene: MSH2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751236
rs63751236
MSH2
0.010 GeneticVariation BEFREE Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome. 22086974

2012
dbSNP: rs1057520735
rs1057520735
MSH2
0.010 GeneticVariation BEFREE Here, we report a Taiwanese family with HNPCC and mutation analysis revealed a novel nonsense mutation (S611X) in MSH2 gene. 21354521

2011
dbSNP: rs146421227
rs146421227
MSH2
0.010 GeneticVariation BEFREE Here, we describe a putative LS family carrying VUS in both MSH2 (c.2768T>A, p.Val923Glu) and MSH6 (c.3563G>A, p.Ser1188Asn). 21431882

2011
dbSNP: rs63750280
rs63750280
MSH2
0.010 GeneticVariation BEFREE We identified in the HNPCC family a novel germline missense (c.1864C>A) mutation in exon 12 of hMSH2 gene, leading to a proline 622 to threonine (p.Pro622Thr) amino acid substitution. 16426447

2006
dbSNP: rs63750709
rs63750709
MSH2
0.010 GeneticVariation BEFREE We conclude, that the CCND1 G870A sequence variation is not a genetic modifier of the phenotype of HNPCC. 16832876

2006
dbSNP: rs267608017
rs267608017
MSH2
C 0.700 CausalMutation CLINVAR Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer. 31101557

2019
dbSNP: rs587779157
rs587779157
MSH2
G 0.700 GeneticVariation CLINVAR Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. 30376427

2019
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation CLINVAR Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing. 28932927

2018
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation CLINVAR Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome. 29575718

2018
dbSNP: rs1114167852
rs1114167852
MSH2
A 0.700 GeneticVariation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
dbSNP: rs587779157
rs587779157
MSH2
G 0.700 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
dbSNP: rs63749831
rs63749831
MSH2
C 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017
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: rs63750936
rs63750936
MSH2
T 0.700 CausalMutation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs267607924
rs267607924
MSH2
A 0.700 CausalMutation CLINVAR Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. 27064304

2016
dbSNP: rs63749932
rs63749932
MSH2
T 0.700 CausalMutation CLINVAR Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. 27013479

2016
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285

2016
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: rs267607924
rs267607924
MSH2
A 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs267607964
rs267607964
MSH2
A 0.700 GeneticVariation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs267608019
rs267608019
MSH2
A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs587779157
rs587779157
MSH2
G 0.700 GeneticVariation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs587779164
rs587779164
MSH2
C 0.700 CausalMutation CLINVAR Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. 26437257

2015
dbSNP: rs63750508
rs63750508
MSH2
T 0.700 CausalMutation CLINVAR Lynch-like syndrome: characterization and comparison with EPCAM deletion carriers. 25110875

2015