Gene: PMS2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. 28528518

2018
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? 28503822

2018
dbSNP: rs121434629
rs121434629
PMS2
A 0.700 CausalMutation CLINVAR Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma. 28125078

2017
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: rs1554309086
rs1554309086
PMS2 ; AIMP2
T 0.700 CausalMutation CLINVAR Practical guidance for mismatch repair-deficiency testing in endometrial cancer. 27742654

2017
dbSNP: rs188006077
rs188006077
PMS2
A 0.700 GeneticVariation CLINVAR Practical guidance for mismatch repair-deficiency testing in endometrial cancer. 27742654

2017
dbSNP: rs267608150
rs267608150
PMS2
CTTCACACACA 0.700 CausalMutation CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842

2017
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842

2017
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. 27978560

2017
dbSNP: rs267608169
rs267608169
PMS2
A 0.700 CausalMutation CLINVAR Lost in translation: returning germline genetic results in genome-scale cancer research. 28454591

2017
dbSNP: rs267608169
rs267608169
PMS2
A 0.700 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria. 28365877

2017
dbSNP: rs587779343
rs587779343
PMS2
A 0.700 CausalMutation CLINVAR A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 28874130

2017
dbSNP: rs587780059
rs587780059
PMS2 ; AIMP2
T 0.700 CausalMutation CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842

2017
dbSNP: rs587780062
rs587780062
PMS2
A 0.700 CausalMutation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
dbSNP: rs587781716
rs587781716
PMS2
T 0.700 CausalMutation CLINVAR Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 28466842

2017
dbSNP: rs587781716
rs587781716
PMS2
T 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017
dbSNP: rs760228510
rs760228510
PMS2
A 0.700 CausalMutation CLINVAR Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. 27273229

2017
dbSNP: rs786203954
rs786203954
PMS2
T 0.700 CausalMutation CLINVAR In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation. 28765196

2017
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 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016
dbSNP: rs1554292741
rs1554292741
PMS2
A 0.700 GeneticVariation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs188006077
rs188006077
PMS2
A 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: rs188006077
rs188006077
PMS2
A 0.700 GeneticVariation CLINVAR Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 27435373

2016