Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750217
rs63750217
A 0.700 CausalMutation CLINVAR Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. 28449805

2017

dbSNP: rs63750217
rs63750217
A 0.700 CausalMutation CLINVAR Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. 27629256

2017

dbSNP: rs63750217
rs63750217
A 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017

dbSNP: rs63750217
rs63750217
A 0.700 CausalMutation CLINVAR New EPCAM founder deletion in Polish population. 28369810

2017

dbSNP: rs63750217
rs63750217
A 0.700 CausalMutation 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: rs63750217
rs63750217
A 0.700 CausalMutation CLINVAR Lynch syndrome mutations shared by the Baltic States and Poland. 24032978

2014

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

2013

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

2013

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

2012

dbSNP: rs63750217
rs63750217
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
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
C 0.700 GeneticVariation CLINVAR Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China. 21615986

2011

dbSNP: rs63750217
rs63750217
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
A 0.700 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007

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

2007

dbSNP: rs63750217
rs63750217
A 0.700 CausalMutation CLINVAR Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 16807412

2006

dbSNP: rs63750217
rs63750217
A 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006

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

2005

dbSNP: rs63750217
rs63750217
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
A 0.700 CausalMutation CLINVAR The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529

2001

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

1999

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

1998

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

1996

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

1996