Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795341
rs1064795341
MLH1 ; EPM2AIP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs267607709
rs267607709
MLH1 ; EPM2AIP1
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: rs267607709
rs267607709
MLH1 ; EPM2AIP1
T 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607710
rs267607710
MLH1 ; EPM2AIP1
C 0.700 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
dbSNP: rs267607710
rs267607710
MLH1 ; EPM2AIP1
C 0.700 CausalMutation CLINVAR Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. 19267393

2009
dbSNP: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 22949379

2013
dbSNP: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome. 20704743

2010
dbSNP: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535

2010
dbSNP: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. 15475387

2004
dbSNP: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach. 12373605

2002
dbSNP: rs587778888
rs587778888
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986

2016
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity. 24302565

2015
dbSNP: rs587778967
rs587778967
MLH1 ; EPM2AIP1
G 0.700 CausalMutation CLINVAR Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds. 11112663

2001
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype. 24084575

2014
dbSNP: rs587779001
rs587779001
MLH1 ; EPM2AIP1
A 0.700 CausalMutation CLINVAR Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. 21840485

2011
dbSNP: rs587779008
rs587779008
MLH1 ; EPM2AIP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs63750057
rs63750057
MLH1 ; EPM2AIP1
GA 0.700 CausalMutation CLINVAR

dbSNP: rs63750580
rs63750580
MLH1 ; EPM2AIP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs63750706
rs63750706
MLH1 ; EPM2AIP1
A 0.700 GeneticVariation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117

2011
dbSNP: rs63750792
rs63750792
MLH1 ; EPM2AIP1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs63750822
rs63750822
MLH1 ; EPM2AIP1
C 0.700 CausalMutation CLINVAR

dbSNP: rs63750822
rs63750822
MLH1 ; EPM2AIP1
CG 0.700 CausalMutation CLINVAR

dbSNP: rs63750823
rs63750823
MLH1 ; EPM2AIP1
T 0.700 CausalMutation CLINVAR