rs121913293
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
|
23695273 |
2014 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
rs121913293
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cognitive characteristics of PTEN hamartoma tumor syndromes.
|
23470840 |
2013 |
rs1064793345
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |
rs1064793345
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
rs121909227
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
|
23160955 |
2012 |
rs121913293
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
|
22628360 |
2012 |
rs121909227
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
|
21659347 |
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 |
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 |
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 |
rs121909227
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
|
9832032 |
1998 |
rs121909231
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
|
9399897 |
1997 |
rs1057524874
|
|
GGA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1114167667
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121909219
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121909224
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1224040268
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1564568303
|
|
AAG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs370795352
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs398123323
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797045904
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|