Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886047397
rs886047397
PTEN
T 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: rs886047397
rs886047397
PTEN
T 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: rs886044679
rs886044679
PTEN
T 0.700 CausalMutation CLINVAR Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. 26185318

2015
dbSNP: rs878853944
rs878853944
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs878853942
rs878853942
PTEN
GAT 0.700 CausalMutation CLINVAR

dbSNP: rs878853941
rs878853941
PTEN
GT 0.700 CausalMutation CLINVAR

dbSNP: rs878853940
rs878853940
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR

dbSNP: rs878853937
rs878853937
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853937
rs878853937
PTEN
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853936
rs878853936
PTEN
G 0.700 CausalMutation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533

2016
dbSNP: rs878853936
rs878853936
PTEN
G 0.700 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs878853933
rs878853933
PTEN
GC 0.700 CausalMutation CLINVAR

dbSNP: rs876661058
rs876661058
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR Cowden disease in a family: a clinical and genetic diagnosis. 16021145

2005
dbSNP: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation 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: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. 20600018

2010
dbSNP: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993

1999
dbSNP: rs876661024
rs876661024
PTEN
C 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: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. 24379037

2013
dbSNP: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs876661024
rs876661024
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
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
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