Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		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: rs121912965
rs121912965
MLH1 ; EPM2AIP1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		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: rs121912965
rs121912965
MLH1 ; EPM2AIP1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 17440981

2007
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529

2001
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930

1995
dbSNP: rs121912965
rs121912965
MLH1 ; EPM2AIP1
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		AC 0.800 CausalMutation CLINVAR

dbSNP: rs63750206
rs63750206
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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
MLH1
CUI: C1333991
Disease: Hereditary Non-Polyposis Colon Cancer Type 2
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