Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
C 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: rs587779333
rs587779333
PMS2 ; AIMP2
C 0.700 GeneticVariation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753

2013
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
C 0.700 GeneticVariation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899

2013
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
C 0.700 GeneticVariation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243

2013
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
C 0.700 GeneticVariation CLINVAR MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 20487569

2010
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
C 0.700 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008