Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 GeneticVariation CLINVAR Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. 20712882

2010
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 GeneticVariation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
C 0.700 GeneticVariation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014
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: rs1064794096
rs1064794096
PTEN ; KLLN
C 0.700 GeneticVariation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
C 0.700 GeneticVariation CLINVAR Frequency of germline PTEN mutations in differentiated thyroid cancer. 21417916

2011
dbSNP: rs1064794096
rs1064794096
PTEN ; KLLN
C 0.700 GeneticVariation CLINVAR In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 17942903

2007
dbSNP: rs1064796078
rs1064796078
PTEN ; KLLN
C 0.700 GeneticVariation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs1085308056
rs1085308056
PTEN
G 0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs1085308056
rs1085308056
PTEN
G 0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009
dbSNP: rs1114167621
rs1114167621
PTEN
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167621
rs1114167621
PTEN
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167623
rs1114167623
PTEN
C 0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs1114167623
rs1114167623
PTEN
C 0.700 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs1114167623
rs1114167623
PTEN
C 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

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: rs1114167633
rs1114167633
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: rs1114167633
rs1114167633
PTEN
C 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: rs1114167645
rs1114167645
PTEN
C 0.700 GeneticVariation 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: rs1114167645
rs1114167645
PTEN
C 0.700 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs1114167645
rs1114167645
PTEN
C 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
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: rs1114167648
rs1114167648
PTEN
C 0.700 GeneticVariation CLINVAR