Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909224
rs121909224
PTEN
T 0.700 CausalMutation CLINVAR Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. 23934601

2014
dbSNP: rs121909224
rs121909224
PTEN
T 0.700 CausalMutation CLINVAR Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes. 24345843

2014
dbSNP: rs121909229
rs121909229
PTEN
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 GeneticVariation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs146650273
rs146650273
PTEN
G 0.700 CausalMutation CLINVAR PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes. 24102544

2014
dbSNP: rs1554826052
rs1554826052
PTEN
AAT 0.700 GeneticVariation CLINVAR PTEN C-terminal deletion causes genomic instability and tumor development. 24561254

2014
dbSNP: rs1554826052
rs1554826052
PTEN
AAT 0.700 GeneticVariation CLINVAR PTEN function: the long and the short of it. 24656806

2014
dbSNP: rs1554893831
rs1554893831
PTEN
T 0.700 GeneticVariation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs1554893831
rs1554893831
PTEN
T 0.700 GeneticVariation CLINVAR Prognostic significance of biallelic loss of PTEN in clear cell renal cell carcinoma. 24704020

2014
dbSNP: rs1554893835
rs1554893835
PTEN
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs1554897280
rs1554897280
PTEN
T 0.700 GeneticVariation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs1554898084
rs1554898084
PTEN
TA 0.700 CausalMutation CLINVAR Cowden syndrome presenting as breast cancer: imaging and clinical features. 25246819

2014
dbSNP: rs587780006
rs587780006
PTEN
CT 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs587782350
rs587782350
PTEN
T 0.700 CausalMutation 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 Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders. 24744697

2014
dbSNP: rs762518389
rs762518389
PTEN
G 0.700 GeneticVariation CLINVAR A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 24498881

2014
dbSNP: rs762518389
rs762518389
PTEN
G 0.700 GeneticVariation CLINVAR Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome. 23934601

2014
dbSNP: rs786201044
rs786201044
PTEN
C 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs786202840
rs786202840
PTEN
T 0.700 CausalMutation CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884

2014
dbSNP: rs786204900
rs786204900
PTEN
C 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs786204900
rs786204900
PTEN
C 0.700 CausalMutation CLINVAR Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes. 24345843

2014
dbSNP: rs797044910
rs797044910
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs876660507
rs876660507
PTEN
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs876660634
rs876660634
PTEN
C 0.700 GeneticVariation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014