rs1057519724
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs121909223
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs121909224
|
|
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
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs121909226
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs121909238
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Multiplex assessment of protein variant abundance by massively parallel sequencing.
|
29785012 |
2018 |
rs121909238
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs121909238
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.
|
29373119 |
2018 |
rs121909239
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs121909239
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
|
29706633 |
2018 |
rs121909240
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs121909240
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Multiplex assessment of protein variant abundance by massively parallel sequencing.
|
29785012 |
2018 |
rs1554893765
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs398123321
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Multiplex assessment of protein variant abundance by massively parallel sequencing.
|
29785012 |
2018 |
rs398123321
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs786204856
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs786204858
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
rs1057519368
|
|
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
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
|
27477328 |
2017 |
rs1085308041
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
|
28526761 |
2017 |
rs1085308041
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1085308043
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1085308052
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.
|
28526761 |
2017 |
rs1114167621
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
rs1114167622
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |