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: rs1057524433
rs1057524433
PMS2
A 0.700 CausalMutation CLINVAR

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

2015
dbSNP: rs1060503137
rs1060503137
PMS2
C 0.700 CausalMutation CLINVAR The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene. 23012243

2013
dbSNP: rs1060503137
rs1060503137
PMS2
C 0.700 CausalMutation CLINVAR Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. 22585707

2012
dbSNP: rs1060503138
rs1060503138
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503142
rs1060503142
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060503148
rs1060503148
PMS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1064793234
rs1064793234
PMS2
C 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: rs1064794083
rs1064794083
PMS2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1064794173
rs1064794173
PMS2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064794566
rs1064794566
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064794566
rs1064794566
PMS2
AT 0.700 CausalMutation CLINVAR Genetic features of Lynch syndrome in the Israeli population. 25430799

2015
dbSNP: rs1064794577
rs1064794577
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064795447
rs1064795447
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064796190
rs1064796190
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs111466480
rs111466480
PMS2
G 0.700 GeneticVariation CLINVAR Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568

2011
dbSNP: rs111466480
rs111466480
PMS2
G 0.700 GeneticVariation CLINVAR Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 24362816

2014
dbSNP: rs113517055
rs113517055
PMS2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121434629
rs121434629
PMS2
T 0.700 GeneticVariation CLINVAR Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene. 24027009

2013
dbSNP: rs121434629
rs121434629
PMS2
T 0.700 GeneticVariation CLINVAR Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 25006859

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 Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines. 21376568

2011
dbSNP: rs121434629
rs121434629
PMS2
T 0.700 GeneticVariation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899

2013
dbSNP: rs121434629
rs121434629
PMS2
T 0.700 GeneticVariation CLINVAR Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses. 26866578

2016