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: 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: rs63750693
rs63750693
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: rs63750710
rs63750710
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: rs63750781
rs63750781
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: rs63750899
rs63750899
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: rs63751109
rs63751109
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 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: rs63751711
rs63751711
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: 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 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: 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: rs63750693
rs63750693
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: rs63750693
rs63750693
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: rs63750693
rs63750693
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: rs63750693
rs63750693
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: rs63750710
rs63750710
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: rs63750710
rs63750710
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: rs63750710
rs63750710
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: rs63750710
rs63750710
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: rs63750781
rs63750781
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: rs63750781
rs63750781
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: rs63750781
rs63750781
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