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

2018

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing. 27863258

2017

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. 28596308

2017

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation 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: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. 26116798

2015

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. 25194673

2014

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Clinical problem-solving. Spot diagnosis. 24897087

2014

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Actionable, pathogenic incidental findings in 1,000 participants' exomes. 24055113

2013

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

2013

dbSNP: rs121434629
rs121434629
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: rs121434629
rs121434629
A 0.700 GeneticVariation CLINVAR Actionable, pathogenic incidental findings in 1,000 participants' exomes. 24055113

2013

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

2013

dbSNP: rs121434629
rs121434629
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
A 0.700 CausalMutation CLINVAR Recurrent and founder mutations in the PMS2 gene. 22577899

2013

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 22949387

2013

dbSNP: rs121434629
rs121434629
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
T 0.700 GeneticVariation CLINVAR Hepatic adenomas caused by somatic HNF1A mutations in children with biallelic mismatch repair gene mutations. 21182953

2011

dbSNP: rs121434629
rs121434629
A 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: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011

dbSNP: rs121434629
rs121434629
A 0.700 GeneticVariation CLINVAR Integrated analysis of unclassified variants in mismatch repair genes. 21239990

2011

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. 20531397

2010

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. 19156169

2009

dbSNP: rs121434629
rs121434629
A 0.700 CausalMutation CLINVAR The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 18602922

2008

dbSNP: rs121434629
rs121434629
T 0.700 GeneticVariation CLINVAR Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. 18273873

2008