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: rs63750206
rs63750206
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: rs63750206
rs63750206
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: rs63750206
rs63750206
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: rs63750206
rs63750206
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: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721 2014
dbSNP: rs63750206
rs63750206
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: rs63750206
rs63750206
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. 25003300 2014
dbSNP: rs63750206
rs63750206
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: rs63750206
rs63750206
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: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 23535968 2013
dbSNP: rs63750206
rs63750206
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: rs63750206
rs63750206
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
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 22753075 2012
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		A 0.800 CausalMutation CLINVAR Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 21404117 2011
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170 2010
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1. 20020535 2010
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		A 0.800 CausalMutation CLINVAR Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 18337503 2008
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		A 0.800 CausalMutation CLINVAR Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 17510385 2007
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		A 0.800 CausalMutation CLINVAR Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 16083711 2005
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		A 0.800 CausalMutation CLINVAR Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis. 15563510 2005
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995 2004
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 11793442 2002
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. 11839723 2002
dbSNP: rs63750206
rs63750206
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.800 GeneticVariation UNIPROT Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295 2002