|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
|
28528518 |
2018 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
|
24055113 |
2013 |
|
rs121434629
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
|
24055113 |
2013 |
|
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 |
|
rs121434629
|
|
A |
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 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Café-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2.
|
18273873 |
2008 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical problem-solving. Spot diagnosis.
|
24897087 |
2014 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
|
25194673 |
2014 |
|
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 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.
|
27863258 |
2017 |
|
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 |
|
rs121434629
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Hepatic adenomas caused by somatic HNF1A mutations in children with biallelic mismatch repair gene mutations.
|
21182953 |
2011 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
|
24027009 |
2013 |
|
rs121434629
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
|
24027009 |
2013 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
|
27433846 |
2016 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
|
rs121434629
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
|
rs121434629
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis.
|
7628019 |
1995 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade.
|
28596308 |
2017 |
|
rs121434629
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
|
15256438 |
2004 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
|
15256438 |
2004 |
|
rs121434629
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |