Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167676
rs1114167676
PTEN
T 0.700 GeneticVariation CLINVAR Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. 25549896

2015
dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. 25288137

2015
dbSNP: rs121909229
rs121909229
PTEN
T 0.700 CausalMutation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015
dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases. 26798346

2015
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs1554893831
rs1554893831
PTEN
T 0.700 GeneticVariation CLINVAR PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels. 25851949

2015
dbSNP: rs1554897280
rs1554897280
PTEN
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs398123317
rs398123317
PTEN
C 0.700 GeneticVariation CLINVAR Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. 25288137

2015
dbSNP: rs398123317
rs398123317
PTEN
C 0.700 GeneticVariation CLINVAR PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. 25722288

2015
dbSNP: rs398123317
rs398123317
PTEN
C 0.700 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs398123329
rs398123329
PTEN
G 0.700 GeneticVariation CLINVAR Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome. 25549896

2015
dbSNP: rs587776667
rs587776667
PTEN
C 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs587782455
rs587782455
PTEN
T 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs762518389
rs762518389
PTEN
G 0.700 GeneticVariation CLINVAR Premalignant alterations in breast and endometrium associated with a PTEN mutation in a woman with Cowden syndrome: implications for preventive care. 26076150

2015
dbSNP: rs762518389
rs762518389
PTEN
G 0.700 GeneticVariation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015
dbSNP: rs786204864
rs786204864
PTEN
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs786204864
rs786204864
PTEN
T 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs786204910
rs786204910
PTEN ; KLLN
T 0.700 CausalMutation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs786204929
rs786204929
PTEN
A 0.700 CausalMutation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015
dbSNP: rs786204934
rs786204934
PTEN
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR Cowden's syndrome with immunodeficiency. 26246517

2015
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Cowden's syndrome with immunodeficiency. 26246517

2015
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: 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: rs1114167672
rs1114167672
PTEN
A 0.700 CausalMutation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014