Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123318
rs398123318
PTEN
T 0.700 CausalMutation CLINVAR A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report. 26795104

2018
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 28286253

2017
dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs121913289
rs121913289
PTEN
T 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs398123318
rs398123318
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587776667
rs587776667
PTEN
C 0.700 CausalMutation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761

2017
dbSNP: rs587782350
rs587782350
PTEN
T 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs786201816
rs786201816
PTEN
G 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs786201816
rs786201816
PTEN
G 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs786204900
rs786204900
PTEN
C 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis. 28523199

2017
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. 29296277

2017
dbSNP: rs1114167664
rs1114167664
PTEN
TG 0.700 GeneticVariation CLINVAR Characterisation of the Phosphatidylinositol 3-Kinase Pathway in Non-Small Cell Lung Cancer Cells Isolated from Pleural Effusions. 27082424

2016
dbSNP: rs1114167664
rs1114167664
PTEN
TG 0.700 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016
dbSNP: rs121913289
rs121913289
PTEN
T 0.700 CausalMutation CLINVAR TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy. 27626691

2016
dbSNP: rs786203847
rs786203847
PTEN
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs786204900
rs786204900
PTEN
C 0.700 CausalMutation CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237

2016
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Tailor-Made Protein Tyrosine Phosphatases: In Vitro Site-Directed Mutagenesis of PTEN and PTPRZ-B. 27514801

2016
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
C 0.700 GeneticVariation CLINVAR A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity. 25875300

2015
dbSNP: rs1114167623
rs1114167623
PTEN
C 0.700 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs1114167645
rs1114167645
PTEN
C 0.700 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs1114167656
rs1114167656
PTEN
T 0.700 GeneticVariation CLINVAR Discovery and functional characterization of a neomorphic PTEN mutation. 26504226

2015
dbSNP: rs1114167664
rs1114167664
PTEN
TG 0.700 GeneticVariation CLINVAR A global reference for human genetic variation. 26432245

2015
dbSNP: rs1114167666
rs1114167666
PTEN
G 0.700 GeneticVariation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949

2015