Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis. 25477341

2015
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Risk of cancer in cases of suspected lynch syndrome without germline mutation. 23354017

2013
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Comprehensive functional assessment of MLH1 variants of unknown significance. 22736432

2012
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer. 18033691

2008
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair. 15864295

2005
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations. 12810663

2003
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 12362047

2002
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. 9697702

1998
dbSNP: rs63750217
rs63750217
MLH1
A 0.700 CausalMutation CLINVAR Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. 8880570

1996