rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
28655553
2018
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
Analysis of protein-coding genetic variation in 60,706 humans.
27535533
2016
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.
24345843
2014
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
Cognitive characteristics of PTEN hamartoma tumor syndromes.
23470840
2013
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
22266152
2012
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
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
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
21828076
2011
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
16773562
2006
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
10866302
2000
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
A novel PTEN mutation in a Japanese patient with Cowden disease.
10848731
2000
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
9467011
1998
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
9856571
1998
rs121909224
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
9259288
1997