Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×
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: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses. 26866578 2016
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 25006859 2014
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 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: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation 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: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 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: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation 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: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899 2013
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation 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: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation 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: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. 18273873 2008
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006
dbSNP: rs121434629
rs121434629
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		A 0.700 CausalMutation CLINVAR Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. 16144131 2005