MSH6, mutS homolog 6, 2956

N. diseases: 296; N. variants: 642
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 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: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 22102614 2012
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 21120944 2011
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families. 15365995 2004
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue. 14974087 2004
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 12658575 2003
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT A role for MLH3 in hereditary nonpolyposis colorectal cancer. 11586295 2001
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. 10480359 1999
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. 10521294 1999
dbSNP: rs35552856
rs35552856
Entrez Id: 2956;80204
Gene Symbol: MSH6;FBXO11
MSH6;FBXO11
CUI: C1833477
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 		0.700 GeneticVariation UNIPROT Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 9354786 1997