Gene: PTEN ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs863224909
rs863224909
PTEN
G 0.700 GeneticVariation CLINVAR

dbSNP: rs863224909
rs863224909
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs786203847
rs786203847
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs786201041
rs786201041
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs786201041
rs786201041
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs727504114
rs727504114
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587782455
rs587782455
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587782455
rs587782455
PTEN
G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587782350
rs587782350
PTEN
T 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs587782350
rs587782350
PTEN
T 0.700 GeneticVariation CLINVAR PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. 10400993

1999
dbSNP: rs587782350
rs587782350
PTEN
T 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: rs587782350
rs587782350
PTEN
T 0.700 GeneticVariation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014
dbSNP: rs587782350
rs587782350
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs587782350
rs587782350
PTEN
T 0.700 GeneticVariation CLINVAR Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. 22261759

2012
dbSNP: rs587782350
rs587782350
PTEN
T 0.700 GeneticVariation CLINVAR Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. 14566704

2003
dbSNP: rs587782350
rs587782350
PTEN
T 0.700 GeneticVariation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs587782350
rs587782350
PTEN
T 0.700 GeneticVariation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs587781784
rs587781784
PTEN
G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587776673
rs587776673
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776672
rs587776672
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776671
rs587776671
PTEN ; KLLN
CA 0.700 CausalMutation CLINVAR

dbSNP: rs587776670
rs587776670
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776669
rs587776669
PTEN
C 0.700 CausalMutation CLINVAR

dbSNP: rs587776667
rs587776667
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017