Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation CLINVAR Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families. 21598002

2011
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation CLINVAR Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. 17720936

2007
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation CLINVAR Msh2 separation of function mutations confer defects in the initiation steps of mismatch repair. 12875840

2003
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation CLINVAR Cancer risk in 348 French MSH2 or MLH1 gene carriers. 12624141

2003
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation CLINVAR Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer. 11601928

2001
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 CausalMutation 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
dbSNP: rs267607996
rs267607996
MSH2
A 0.700 GeneticVariation CLINVAR