Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017

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

2015

dbSNP: rs121909229
rs121909229
T 0.700 CausalMutation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015

dbSNP: rs121909229
rs121909229
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014

dbSNP: rs121909229
rs121909229
T 0.700 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013

dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013

dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840

2013

dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. 22266152

2012

dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. 22327138

2012

dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012

dbSNP: rs121909229
rs121909229
C 0.700 GeneticVariation CLINVAR Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. 22266152

2012

dbSNP: rs121909229
rs121909229
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
A 0.700 CausalMutation CLINVAR Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome? 21822720

2011

dbSNP: rs121909229
rs121909229
C 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011

dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Genetic changes in the PTEN gene and their association with breast cancer in Pakistan. 22320991

2011

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

2011

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

2010

dbSNP: rs121909229
rs121909229
A 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: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 17942903

2007

dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 16773562

2006

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

2000

dbSNP: rs121909229
rs121909229
A 0.700 CausalMutation CLINVAR Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 9915974

1999

dbSNP: rs121909229
rs121909229
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: rs121909229
rs121909229
T 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: rs121909229
rs121909229
T 0.700 GeneticVariation CLINVAR