Gene: PMS2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064795705
rs1064795705
PMS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs113517055
rs113517055
PMS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554292741
rs1554292741
PMS2
A 0.700 GeneticVariation CLINVAR Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. 23435383

2013
dbSNP: rs1554292741
rs1554292741
PMS2
A 0.700 GeneticVariation CLINVAR PMS2 monoallelic mutation carriers: the known unknown. 25856668

2016
dbSNP: rs1554294393
rs1554294393
PMS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554300689
rs1554300689
PMS2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554304979
rs1554304979
PMS2
G 0.700 GeneticVariation CLINVAR Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase. 11574484

2001
dbSNP: rs1562633172
rs1562633172
PMS2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs188006077
rs188006077
PMS2
A 0.700 GeneticVariation CLINVAR Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses. 26247049

2015
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 Practical guidance for mismatch repair-deficiency testing in endometrial cancer. 27742654

2017
dbSNP: rs188006077
rs188006077
PMS2
A 0.700 GeneticVariation CLINVAR Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk. 25512458

2015
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
dbSNP: rs267608153
rs267608153
PMS2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs267608153
rs267608153
PMS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR PMS2 endonuclease activity has distinct biological functions and is essential for genome maintenance. 20624957

2010
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
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: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Drastic genetic instability of tumors and normal tissues in Turcot syndrome. 9419979

1997
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 Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. 26318770

2015
dbSNP: rs267608161
rs267608161
PMS2
T 0.700 GeneticVariation CLINVAR Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009

2013
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008
dbSNP: rs587779337
rs587779337
PMS2
T 0.700 GeneticVariation CLINVAR Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 18709565

2008