rs121913293
|
|
Malignant neoplasm of prostate
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121913293
|
|
Proteus-Like Syndrome (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
rs121913293
|
|
Hamartoma Syndrome, Multiple
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
rs121913293
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
|
17526801 |
2007 |
rs121913293
|
|
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
|
22628360 |
2012 |
rs121913293
|
|
Poor school performance
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121913293
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
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 |
rs121913293
|
|
Hamartoma Syndrome, Multiple
|
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 |
rs121913293
|
|
MACROCEPHALY/AUTISM SYNDROME
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
rs121913293
|
|
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
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 |
rs121913293
|
|
MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121913293
|
|
PTEN Hamartoma Tumor Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
rs121913293
|
|
Large head (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121913293
|
|
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
|
22628360 |
2012 |
rs121913293
|
|
PTEN Hamartoma Tumor Syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
|
17526801 |
2007 |
rs121913293
|
|
PTEN Hamartoma Tumor Syndrome
|
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 |
rs121913293
|
|
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
rs121913293
|
|
Proteus-Like Syndrome (disorder)
|
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 |
rs121913293
|
|
Lhermitte-Duclos disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
rs121913293
|
|
Hamartoma Syndrome, Multiple
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
rs121913293
|
|
Lhermitte-Duclos disease
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
|
22628360 |
2012 |
rs121913293
|
|
CEREBELLOPARENCHYMAL DISORDER VI
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
|
22628360 |
2012 |
rs121913293
|
|
VACTERL Association With Hydrocephalus
|
T |
0.700 |
CausalMutation
|
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
rs121913293
|
|
Hamartoma Syndrome, Multiple
|
T |
0.700 |
CausalMutation
|
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
rs121913293
|
|
MACROCEPHALY/AUTISM SYNDROME
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |