rs121909218
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
rs587782350
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
|
27477328 |
2017 |
rs587782350
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs587782350
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
|
24375884 |
2014 |
rs587782350
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
|
22261759 |
2012 |
rs587782350
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
|
21828076 |
2011 |
rs587782350
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
|
17942903 |
2007 |
rs587782350
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
|
14566704 |
2003 |
rs587782350
|
|
T |
0.810 |
GeneticVariation |
CLINVAR |
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
|
10400993 |
1999 |
rs587782350
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs1060500126
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs121909221
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909222
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909223
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909225
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909226
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121909229
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs398123317
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs121909231
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
|
25756585 |
2015 |
rs121909231
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
rs121909231
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
|
21956414 |
2011 |
rs121909231
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
|
10749983 |
2000 |
rs121909231
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS.
|
10353779 |
1999 |
rs121909231
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
|
10468583 |
1999 |
rs121909231
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
|
9399897 |
1997 |