MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28929483
rs28929483
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs28929484
rs28929484
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs587779067
rs587779067
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs63750070
rs63750070
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs63750126
rs63750126
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs63750214
rs63750214
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs63750398
rs63750398
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs63750828
rs63750828
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
A 0.800 CausalMutation CLINVAR Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. 28422960 2017
dbSNP: rs63750849
rs63750849
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs63750875
rs63750875
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs63751207
rs63751207
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs587779067
rs587779067
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
G 0.800 GeneticVariation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660 2016
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
A 0.800 CausalMutation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660 2016
dbSNP: rs63750624
rs63750624
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
A 0.800 CausalMutation CLINVAR MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 27606285 2016
dbSNP: rs63750828
rs63750828
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
A 0.800 CausalMutation CLINVAR Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 26951660 2016
dbSNP: rs28929483
rs28929483
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs28929483
rs28929483
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197 2015
dbSNP: rs28929483
rs28929483
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs28929483
rs28929483
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs28929483
rs28929483
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs28929484
rs28929484
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs28929484
rs28929484
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs28929484
rs28929484
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
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: rs28929484
rs28929484
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs28929484
rs28929484
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease:
Colorectal cancer, hereditary nonpolyposis, type 1
0.800 GeneticVariation UNIPROT Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 25711197 2015