Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519368
rs1057519368
PTEN
C 0.700 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016
dbSNP: rs1057519368
rs1057519368
PTEN
C 0.700 GeneticVariation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs1057519724
rs1057519724
PTEN
T 0.700 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016
dbSNP: rs1057519724
rs1057519724
PTEN
T 0.700 GeneticVariation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018
dbSNP: rs1057520208
rs1057520208
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500110
rs1060500110
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500124
rs1060500124
PTEN
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency. 27531073

2016
dbSNP: rs1060500126
rs1060500126
PTEN
G 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: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302

2000
dbSNP: rs1060500126
rs1060500126
PTEN
G 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: rs1060500126
rs1060500126
PTEN
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR Retinal angioma in a patient with Cowden disease. 12614768

2003
dbSNP: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs1064792911
rs1064792911
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: rs1064792911
rs1064792911
PTEN
A 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: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660

2010
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients. 11052475

2000
dbSNP: rs1085308041
rs1085308041
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: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761

2017