Gene: MLH1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607744
rs267607744
MLH1
A 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607745
rs267607745
MLH1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267607765
rs267607765
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607768
rs267607768
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607778
rs267607778
MLH1
A 0.700 CausalMutation CLINVAR

dbSNP: rs267607785
rs267607785
MLH1
A 0.700 GeneticVariation CLINVAR Impact of genetic counseling and DNA testing on individuals with colorectal cancer with a positive family history: a population-based study. 16379545

2005
dbSNP: rs267607787
rs267607787
MLH1
A 0.700 CausalMutation CLINVAR Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575

2003
dbSNP: rs267607787
rs267607787
MLH1
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer. 17505997

2007
dbSNP: rs267607787
rs267607787
MLH1
A 0.700 CausalMutation CLINVAR Molecular genetic alterations and clinical features in early-onset colorectal carcinomas and their role for the recognition of hereditary cancer syndromes. 16181381

2005
dbSNP: rs267607787
rs267607787
MLH1
A 0.700 CausalMutation CLINVAR A mononucleotide markers panel to identify hMLH1/hMSH2 germline mutations. 17473388

2007
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility. 9490293

1998
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295

2002
dbSNP: rs267607789
rs267607789
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: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 16395668

2006
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Alternative splicing of MLH1 messenger RNA in human normal cells. 7728749

1995
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer. 17054581

2006
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 11524701

2001
dbSNP: rs267607789
rs267607789
MLH1
A 0.700 CausalMutation CLINVAR Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families. 20937110

2010
dbSNP: rs267607795
rs267607795
MLH1
A 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: rs267607795
rs267607795
MLH1
A 0.700 GeneticVariation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769

2005
dbSNP: rs267607825
rs267607825
MLH1
A 0.700 CausalMutation CLINVAR Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. 9322509

1997
dbSNP: rs267607825
rs267607825
MLH1
A 0.700 CausalMutation CLINVAR Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer. Mutations in brief no. 144. Online. 10200055

1998
dbSNP: rs267607825
rs267607825
MLH1
A 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 12362047

2002
dbSNP: rs267607825
rs267607825
MLH1
A 0.700 CausalMutation CLINVAR Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia. 17348456

2007
dbSNP: rs267607825
rs267607825
MLH1
A 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006