MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Hereditary Non-Polyposis Colon Cancer Type 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility. 21952876 2012
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation 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: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. 17135187 2006
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. 12386821 2002
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. 19698169 2009
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 15713769 2005
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 19419416 2009
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations. 17210669 2007
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295 2002
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression. 20864636 2010
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 18561205 2008
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. 12547705 2003
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. 11555625 2001
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		T 0.800 CausalMutation CLINVAR In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects. 16995940 2006
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 25070057 2014
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		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: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 23408351 2013
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 24310308 2014
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197 2015
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs63751194
rs63751194
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		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