rs1057517809
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Analysis of protein-coding genetic variation in 60,706 humans.
27535533
2016
rs1057519368
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
Analysis of protein-coding genetic variation in 60,706 humans.
27535533
2016
rs1057519368
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
rs1057519368
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
28086757
2017
rs1057519724
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
GeneticVariation
CLINVAR
Analysis of protein-coding genetic variation in 60,706 humans.
27535533
2016
rs1057519724
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
GeneticVariation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
rs1057520208
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
rs1057520900
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
rs1060500110
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
21194675
2011
rs1060500110
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.
20712882
2010
rs1060500110
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
rs1060500110
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Male breast cancer in Cowden syndrome patients with germline PTEN mutations.
11238682
2001
rs1060500110
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
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
rs1060500113
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
AT
0.700
CausalMutation
CLINVAR
rs1060500114
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
rs1060500115
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
CT
0.700
CausalMutation
CLINVAR
rs1060500116
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
rs1060500124
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
rs1060500126
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
23399955
2013
rs1060500126
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
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
rs1060500126
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.
27531073
2016
rs1060500126
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
21194675
2011
rs1060500126
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
rs1060500126
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
10866302
2000
rs1060500126
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
Retinal angioma in a patient with Cowden disease.
12614768
2003