Gene: MLH1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. 19224586

2009
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast. 19863800

2009
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore. 18726168

2009
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 19419416

2009
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification. 18470917

2008
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population. 18547406

2008
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 18772310

2008
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations. 18373977

2008
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs63751194
rs63751194
MLH1
A 0.710 CausalMutation CLINVAR Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients. 18618713

2008
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation. 18205192

2008
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63751194
rs63751194
MLH1
A 0.710 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 17312306

2007
dbSNP: rs63751194
rs63751194
MLH1
T 0.710 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669

2007
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. 17135187

2006
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia. 16830052

2006
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs63750781
rs63750781
MLH1
T 0.710 CausalMutation CLINVAR The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. 17192056

2006
dbSNP: rs63751194
rs63751194
MLH1
A 0.710 CausalMutation CLINVAR Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia. 16830052

2006