Gene: MLH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 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
MLH1
A 0.720 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2. 19669161

2010
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. 19142183

2009
dbSNP: rs63750206
rs63750206
MLH1
C 0.720 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 18337503

2008
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306

2007
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Immunohistochemical staining for mismatch repair proteins, and its relevance in the diagnosis of hereditary non-polyposis colorectal cancer. 17440950

2007
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer. 17505997

2007
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940

2006
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families. 16810763

2006
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Mutations from Italian HNPCC families (G224D, G67R, N635S, and K618A) were all ineffective at reversing the phenotype of the MLH1-defective A2780 cells. 16982745

2006
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581

2006
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63750206
rs63750206
MLH1
C 0.720 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. 15563510

2005
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750217
rs63750217
MLH1
A 0.720 GeneticVariation CLINVAR Analysis of seven HNPCC-associated hMLH1 missense mutations located within the hMRE11-interacting domain shows that four mutations (L574P, K618T, R659P and A681T) cause near-complete disruption of the interaction between hMRE11 and hMLH1, and two mutations (Q542L and L582V) cause a 30% reduction of protein interaction. 15864295

2005
dbSNP: rs63750206
rs63750206
MLH1
C 0.720 CausalMutation CLINVAR Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR. 15613555

2004
dbSNP: rs63750206
rs63750206
MLH1
A 0.720 CausalMutation CLINVAR Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden. 14961575

2004