rs121909235
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
0.010
GeneticVariation
BEFREE
Germline exome sequencing revealed a missense mutation of PTEN (p.Arg234Gln ), a rare variant with a reported association with cancer development but not with other PHTS phenotypes.
28755079
2018
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
rs121909223
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
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
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
rs121909226
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
rs121909238
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.
29373119
2018
rs121909238
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
Multiplex assessment of protein variant abundance by massively parallel sequencing.
29785012
2018
rs121909238
×
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
rs121909239
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
29706633
2018
rs121909239
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
rs121909240
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
Multiplex assessment of protein variant abundance by massively parallel sequencing.
29785012
2018
rs121909240
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
rs1554893765
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
rs398123321
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
rs398123321
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
GeneticVariation
CLINVAR
Multiplex assessment of protein variant abundance by massively parallel sequencing.
29785012
2018
rs786204856
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
rs786204858
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
T
0.700
CausalMutation
CLINVAR
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
29706350
2018
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
rs1085308041
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
27477328
2017
rs1085308041
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
C
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1085308041
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
GeneticVariation
CLINVAR
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
28526761
2017
rs1085308043
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
G
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
rs1085308052
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
CT
0.700
CausalMutation
CLINVAR
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
28526761
2017
rs1114167621
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017