rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
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
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
22949387
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
Recurrent and founder mutations in the PMS2 gene.
22577899
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
24027009
2013
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
23709753
2013
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
24027009
2013
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations.
21204794
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
Integrated analysis of unclassified variants in mismatch repair genes.
21239990
2011
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.
20205264
2010
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.
19479271
2009
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
18602922
2008
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
18602922
2008
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
18178629
2008
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
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
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
Long-range PCR facilitates the identification of PMS2-specific mutations.
16619239
2006
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
Long-range PCR facilitates the identification of PMS2-specific mutations.
16619239
2006
rs587779342
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
0.800
GeneticVariation
UNIPROT
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).
16472587
2006
rs121434629
×
Entrez Id:
5395
Gene Symbol:
PMS2
PMS2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
A
0.800
GeneticVariation
CLINVAR
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers.
16144131
2005