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: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers. 26110232 2016
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770 2015
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243 2013
dbSNP: rs267608161
rs267608161
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: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957 2010
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. 20176959 2010
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922 2008
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair. 17029773 2007
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Mutations affecting a putative MutLalpha endonuclease motif impact multiple mismatch repair functions. 17567544 2007
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Endonucleolytic function of MutLalpha in human mismatch repair. 16873062 2006
dbSNP: rs267608161
rs267608161
Entrez Id: 5395
Gene Symbol: PMS2
PMS2
CUI: C0009405
Disease:
Hereditary Nonpolyposis Colorectal Neoplasms 		T 0.700 GeneticVariation CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239 2006