Gene: PMS2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517801
rs1057517801
PMS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060503110
rs1060503110
PMS2
T 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs1060503137
rs1060503137
PMS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1064793234
rs1064793234
PMS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1064793868
rs1064793868
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064794577
rs1064794577
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064795705
rs1064795705
PMS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs113517055
rs113517055
PMS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs116373169
rs116373169
PMS2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754

2015
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency. 28286799

2017
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. 25194673

2014
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753

2013
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression. 25871621

2015
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. 18273873

2008
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568

2011
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 20186688

2010
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. 16144131

2005
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Long-range PCR facilitates the identification of PMS2-specific mutations. 16619239

2006
dbSNP: rs121434629
rs121434629
PMS2
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: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899

2013
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011