Gene: MLH1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 25452455

2015
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 22167527

2012
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981

2007
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529

2001
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
0.800 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
AC 0.800 CausalMutation CLINVAR

dbSNP: rs63750610
rs63750610
MLH1
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
MLH1
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
MLH1
T 0.700 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs63750610
rs63750610
MLH1
T 0.700 GeneticVariation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075

2012
dbSNP: rs63750610
rs63750610
MLH1
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
MLH1
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
MLH1
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
MLH1
T 0.700 GeneticVariation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385

2007
dbSNP: rs63750610
rs63750610
MLH1
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
MLH1
T 0.700 GeneticVariation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711

2005
dbSNP: rs63750610
rs63750610
MLH1
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
dbSNP: rs1553647894
rs1553647894
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607720
rs267607720
MLH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs267607735
rs267607735
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607768
rs267607768
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607871
rs267607871
MLH1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397514684
rs397514684
MLH1
G 0.700 CausalMutation CLINVAR