Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		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: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753 2013
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387 2013
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009 2013
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations. 21204794 2011
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990 2011
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568 2011
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264 2010
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300 2007
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 GeneticVariation CLINVAR Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. 16144131 2005
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C1838333
Disease:
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		A 0.800 CausalMutation CLINVAR