Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909235
rs121909235
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

dbSNP: rs1057519724
rs1057519724
T 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs121909223
rs121909223
C 0.700 CausalMutation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs121909224
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

dbSNP: rs121909224
rs121909224
G 0.700 CausalMutation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs121909226
rs121909226
C 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs121909238
rs121909238
G 0.700 CausalMutation CLINVAR Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth. 29373119

2018

dbSNP: rs121909238
rs121909238
G 0.700 CausalMutation CLINVAR Multiplex assessment of protein variant abundance by massively parallel sequencing. 29785012

2018

dbSNP: rs121909238
rs121909238
G 0.700 CausalMutation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs121909239
rs121909239
G 0.700 GeneticVariation CLINVAR A pathogenic role for germline PTEN variants which accumulate into the nucleus. 29706633

2018

dbSNP: rs121909239
rs121909239
G 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs121909240
rs121909240
C 0.700 GeneticVariation CLINVAR Multiplex assessment of protein variant abundance by massively parallel sequencing. 29785012

2018

dbSNP: rs121909240
rs121909240
C 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs1554893765
rs1554893765
C 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs398123321
rs398123321
C 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs398123321
rs398123321
C 0.700 GeneticVariation CLINVAR Multiplex assessment of protein variant abundance by massively parallel sequencing. 29785012

2018

dbSNP: rs786204856
rs786204856
T 0.700 CausalMutation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs786204858
rs786204858
T 0.700 CausalMutation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018

dbSNP: rs1057519368
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

dbSNP: rs1085308041
rs1085308041
G 0.700 GeneticVariation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017

dbSNP: rs1085308041
rs1085308041
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017

dbSNP: rs1085308041
rs1085308041
G 0.700 GeneticVariation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761

2017

dbSNP: rs1085308043
rs1085308043
G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017

dbSNP: rs1085308052
rs1085308052
CT 0.700 CausalMutation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761

2017

dbSNP: rs1114167621
rs1114167621
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017