Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041332
rs886041332
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853936
rs878853936
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs876660879
rs876660879
PTEN
C 0.700 CausalMutation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014
dbSNP: rs876660879
rs876660879
PTEN
C 0.700 CausalMutation CLINVAR Disruption of epithelial architecture caused by loss of PTEN or by oncogenic mutant p110α/PIK3CA but not by HER2 or mutant AKT1. 23085752

2013
dbSNP: rs876660879
rs876660879
PTEN
T 0.700 GeneticVariation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014
dbSNP: rs876660879
rs876660879
PTEN
T 0.700 GeneticVariation CLINVAR A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas. 21266528

2011
dbSNP: rs876660879
rs876660879
PTEN
C 0.700 CausalMutation CLINVAR Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. 15951562

2005
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Cowden's syndrome with immunodeficiency. 26246517

2015
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
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
C 0.700 GeneticVariation CLINVAR Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. 16704655

2006
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function. 19457929

2009
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
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: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. 16704655

2006
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function. 19457929

2009
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Cowden's syndrome with immunodeficiency. 26246517

2015
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
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: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas. 9288766

1997
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148

1999
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53. 20926450

2011