Gene: PMS2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. 26116798

2015
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. 28514183

2017
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. 23435383

2013
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009

2013
dbSNP: rs587779338
rs587779338
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: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Classification of mismatch repair gene missense variants with PON-MMR. 22290698

2012
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 23709753

2013
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis? 28503822

2018
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families. 23837913

2014
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 20186688

2010
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458

2015
dbSNP: rs587779338
rs587779338
PMS2
A 0.700 GeneticVariation CLINVAR Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. 23435383

2013
dbSNP: rs587779338
rs587779338
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
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: rs587779340
rs587779340
PMS2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587781317
rs587781317
PMS2
G 0.700 GeneticVariation CLINVAR Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 20205264

2010
dbSNP: rs587781317
rs587781317
PMS2
G 0.700 GeneticVariation CLINVAR Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies. 23729388

2013
dbSNP: rs587781317
rs587781317
PMS2
G 0.700 GeneticVariation CLINVAR Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. 23435383

2013
dbSNP: rs587781339
rs587781339
PMS2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs587781339
rs587781339
PMS2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587782074
rs587782074
PMS2 ; AIMP2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587782336
rs587782336
PMS2
G 0.700 GeneticVariation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs745487791
rs745487791
PMS2
G 0.700 GeneticVariation CLINVAR