Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort. 26895986

2016

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR An Unusual Case of Constitutional Mismatch Repair Deficiency Syndrome With Anaplastic Ganglioglioma, Colonic Adenocarcinoma, Osteosarcoma, Acute Myeloid Leukemia, and Signs of Neurofibromatosis Type 1: Case Report. 25850602

2015

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243

2013

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 15077197

2004

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR Variation in the extent of microsatellite instability in human cell lines with defects in different mismatch repair genes. 12714694

2003

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 9488480

1998

dbSNP: rs63750871
rs63750871
A 0.700 CausalMutation CLINVAR Mismatch repair deficiency in phenotypically normal human cells. 7632227

1995