MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The interaction of DNA mismatch repair proteins with human exonuclease I. 11427529 2001
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		0.800 GeneticVariation UNIPROT The molecular basis of Turcot's syndrome. 7661930 1995
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
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
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
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
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
Turcot syndrome (disorder) 		AC 0.800 CausalMutation CLINVAR
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
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
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
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
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0265325
Disease:
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: rs1064795341
rs1064795341
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		C 0.700 CausalMutation CLINVAR
dbSNP: rs111052004
rs111052004
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs111052004
rs111052004
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		A 0.700 CausalMutation CLINVAR
dbSNP: rs111052004
rs111052004
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs121912965
rs121912965
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		AC 0.700 CausalMutation CLINVAR
dbSNP: rs1553637196
rs1553637196
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 CausalMutation CLINVAR
dbSNP: rs1553637475
rs1553637475
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1559500884
rs1559500884
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267607702
rs267607702
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333990
Disease:
Hereditary Nonpolyposis Colorectal Cancer 		G 0.700 CausalMutation CLINVAR
dbSNP: rs267607706
rs267607706
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 GeneticVariation UNIPROT Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. 9559627 1998
dbSNP: rs267607706
rs267607706
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 GeneticVariation UNIPROT Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 11781295 2002
dbSNP: rs267607706
rs267607706
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 GeneticVariation UNIPROT Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer. 8993976 1997
dbSNP: rs267607706
rs267607706
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 GeneticVariation UNIPROT Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations. 9311737 1997
dbSNP: rs267607706
rs267607706
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 GeneticVariation UNIPROT Majority of hMLH1 mutations responsible for hereditary nonpolyposis colorectal cancer cluster at the exonic region 15-16. 8571956 1996
dbSNP: rs267607706
rs267607706
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 GeneticVariation UNIPROT Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing. 11839723 2002
dbSNP: rs267607706
rs267607706
Entrez Id: 4292;9852
Gene Symbol: MLH1;EPM2AIP1
MLH1;EPM2AIP1
CUI: C1333991
Disease:
Hereditary Non-Polyposis Colon Cancer Type 2 		0.700 GeneticVariation UNIPROT A human compound heterozygote for two MLH1 missense mutations. 9326924 1997