Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608161
rs267608161
PMS2
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
PMS2
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
PMS2
T 0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243

2013
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009

2013
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957

2010
dbSNP: rs267608161
rs267608161
PMS2
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
PMS2
T 0.700 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair. 17029773

2007
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Mutations affecting a putative MutLalpha endonuclease motif impact multiple mismatch repair functions. 17567544

2007
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Endonucleolytic function of MutLalpha in human mismatch repair. 16873062

2006
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239

2006