Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517809
rs1057517809
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. 11071384

2000
dbSNP: rs1114167621
rs1114167621
PTEN
A 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: rs1114167625
rs1114167625
PTEN ; KLLN
A 0.700 GeneticVariation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs1114167627
rs1114167627
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167636
rs1114167636
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167641
rs1114167641
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167643
rs1114167643
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167644
rs1114167644
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167647
rs1114167647
PTEN
A 0.700 GeneticVariation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs1114167647
rs1114167647
PTEN
A 0.700 GeneticVariation CLINVAR Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. 20600018

2010
dbSNP: rs1114167650
rs1114167650
PTEN
A 0.700 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998
dbSNP: rs1114167650
rs1114167650
PTEN
A 0.700 CausalMutation CLINVAR Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. 20712882

2010
dbSNP: rs1114167650
rs1114167650
PTEN
A 0.700 CausalMutation CLINVAR Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN. 16014636

2005
dbSNP: rs1114167650
rs1114167650
PTEN
A 0.700 CausalMutation CLINVAR Identification of PTEN mutations in five families with Bannayan-Zonana syndrome. 10232405

1999
dbSNP: rs1114167652
rs1114167652
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167659
rs1114167659
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167665
rs1114167665
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1114167670
rs1114167670
PTEN
A 0.700 CausalMutation CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800

2007
dbSNP: rs1114167672
rs1114167672
PTEN
A 0.700 CausalMutation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014
dbSNP: rs1114167681
rs1114167681
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR PTEN mutation spectrum in breast cancers and breast hyperplasia. 20300775

2010
dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases. 26798346

2015
dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302

2000