rs1057515571
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057515572
|
|
ACT |
0.700 |
GeneticVariation |
CLINVAR |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
rs1064794577
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
|
16144131 |
2005 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
|
21204794 |
2011 |
rs121434629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
|
18602922 |
2008 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Integrated analysis of unclassified variants in mismatch repair genes.
|
21239990 |
2011 |
rs121434629
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
|
20205264 |
2010 |
rs121434629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
|
21376568 |
2011 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
|
22949387 |
2013 |
rs121434629
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Recurrent and founder mutations in the PMS2 gene.
|
22577899 |
2013 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Long-range PCR facilitates the identification of PMS2-specific mutations.
|
16619239 |
2006 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
|
17557300 |
2007 |
rs121434629
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
|
24027009 |
2013 |
rs1261282733
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1458321358
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554294019
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554304745
|
|
TAG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1805324
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.
|
15887124 |
2005 |
rs1805324
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
|
23709753 |
2013 |