×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
25637381
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Integrated analysis of unclassified variants in mismatch repair genes.
21239990
2011
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Recurrent and founder mutations in the PMS2 gene.
22577899
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.
22081473
2012
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
27696107
2017
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
20205264
2010
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
17557300
2007
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
24027009
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.
28640387
2017
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.
26898890
2016
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.
20487569
2010
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
21204794
2011
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Cancer risks for mismatch repair gene mutation carriers: a population-based early onset case-family study.
16616355
2006
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Long-range PCR facilitates the identification of PMS2-specific mutations.
16619239
2006
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.
25477341
2015
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
22949387
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
20205264
2010
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
CausalMutation
disease
CLINVAR
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
23012243
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
The frequency of previously undetectable deletions involving 3' Exons of the PMS2 gene.
23012243
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
21376568
2011
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
23709753
2013
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
0.700
GeneticVariation
disease
CLINVAR
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
25980754
2015