Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750206
rs63750206
MLH1
A 0.800 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750206
rs63750206
MLH1
A 0.800 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750206
rs63750206
MLH1
T 0.800 CausalMutation CLINVAR

dbSNP: rs63750206
rs63750206
MLH1
A 0.800 CausalMutation CLINVAR Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. 15563510

2005
dbSNP: rs63750206
rs63750206
MLH1
A 0.800 CausalMutation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63750206
rs63750206
MLH1
A 0.800 CausalMutation CLINVAR Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 18337503

2008
dbSNP: rs63750217
rs63750217
MLH1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs63750217
rs63750217
MLH1
A 0.800 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
MLH1
A 0.800 CausalMutation CLINVAR hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair. 15864295

2005
dbSNP: rs63750217
rs63750217
MLH1
A 0.800 CausalMutation CLINVAR The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. 10037723

1999
dbSNP: rs63750217
rs63750217
MLH1
A 0.800 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 0.800 CausalMutation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722

2007
dbSNP: rs63750217
rs63750217
MLH1
A 0.800 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750217
rs63750217
MLH1
A 0.800 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750217
rs63750217
MLH1
A 0.800 CausalMutation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs63750217
rs63750217
MLH1
A 0.800 CausalMutation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs63750217
rs63750217
MLH1
A 0.800 CausalMutation CLINVAR Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome. 8880570

1996
dbSNP: rs63750610
rs63750610
MLH1
T 0.800 GeneticVariation 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: rs63750610
rs63750610
MLH1
T 0.800 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750610
rs63750610
MLH1
T 0.800 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63750610
rs63750610
MLH1
T 0.800 GeneticVariation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750610
rs63750610
MLH1
T 0.800 GeneticVariation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013
dbSNP: rs63750610
rs63750610
MLH1
T 0.800 GeneticVariation CLINVAR Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 11726306

2001
dbSNP: rs63750610
rs63750610
MLH1
T 0.800 GeneticVariation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944

2011
dbSNP: rs63750610
rs63750610
MLH1
T 0.800 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013