rs587776670
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776671
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776672
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776673
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587782350
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs863224909
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs863224909
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121909232
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Appendectomy, tonsillectomy, and neoplasia.
|
1097835 |
1975 |
rs121909224
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
|
9259288 |
1997 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
|
9399897 |
1997 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
|
10353779 |
1999 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.
|
10468583 |
1999 |
rs587782350
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
|
10400993 |
1999 |
rs121909231
|
|
T |
0.700 |
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 |
rs121909232
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
|
11476841 |
2001 |
rs587782350
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
|
14566704 |
2003 |
rs121909232
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
|
16007494 |
2005 |
rs121913293
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
|
17526800 |
2007 |
rs587782350
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
|
17942903 |
2007 |
rs121909224
|
|
T |
0.700 |
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 |
0.700 |
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 |
rs121909232
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
|
21659347 |
2011 |
rs587782350
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
|
21828076 |
2011 |
rs1064793345
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
rs1064793345
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |