MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Torre-Muir syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 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
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630 2013
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 20533529 2010
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 17594722 2007
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 GeneticVariation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
dbSNP: rs63750610
rs63750610
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1321489
Disease:
Torre-Muir syndrome 		T 0.700 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