Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458

2015
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243

2013
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899

2013
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264

2010
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008
dbSNP: rs63750250
rs63750250
PMS2
AT 0.700 CausalMutation CLINVAR Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer. 15887099

2005