Gene: MLH1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795515
rs1064795515
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1416171624
rs1416171624
MLH1
A 0.700 CausalMutation CLINVAR Tumor microsatellite instability in early onset gastric cancer. 16237216

2005
dbSNP: rs1416171624
rs1416171624
MLH1
A 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs1434898623
rs1434898623
MLH1
A 0.700 CausalMutation CLINVAR Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome. 26248088

2015
dbSNP: rs1434898623
rs1434898623
MLH1
A 0.700 CausalMutation CLINVAR Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 21642682

2011
dbSNP: rs1553646764
rs1553646764
MLH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553658246
rs1553658246
MLH1
A 0.700 GeneticVariation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049

2015
dbSNP: rs1553663159
rs1553663159
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559574795
rs1559574795
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607710
rs267607710
MLH1 ; EPM2AIP1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267607718
rs267607718
MLH1
A 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs267607718
rs267607718
MLH1
A 0.700 CausalMutation CLINVAR Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 15849733

2005
dbSNP: rs267607718
rs267607718
MLH1
A 0.700 CausalMutation CLINVAR MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. 9087566

1997
dbSNP: rs267607727
rs267607727
MLH1
A 0.700 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
dbSNP: rs267607727
rs267607727
MLH1
A 0.700 GeneticVariation CLINVAR Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. 15475387

2004
dbSNP: rs267607727
rs267607727
MLH1
A 0.700 GeneticVariation CLINVAR Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 23403630

2013
dbSNP: rs267607727
rs267607727
MLH1
A 0.700 GeneticVariation CLINVAR Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome. 26249686

2015
dbSNP: rs267607727
rs267607727
MLH1
A 0.700 GeneticVariation CLINVAR Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 14635101

2003
dbSNP: rs267607727
rs267607727
MLH1
A 0.700 GeneticVariation CLINVAR Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 18383312

2008
dbSNP: rs267607727
rs267607727
MLH1
A 0.700 GeneticVariation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs267607727
rs267607727
MLH1
A 0.700 GeneticVariation CLINVAR The alpha-helix dipole and the properties of proteins. 661956

1978
dbSNP: rs267607768
rs267607768
MLH1
A 0.700 CausalMutation CLINVAR Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients. 24090359

2013
dbSNP: rs267607768
rs267607768
MLH1
A 0.700 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205

2008
dbSNP: rs267607768
rs267607768
MLH1
A 0.700 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607768
rs267607768
MLH1
A 0.700 CausalMutation CLINVAR Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 16341550

2006