PTEN, phosphatase and tensin homolog, 5728

N. diseases: 182; N. variants: 355
Disease: PTEN Hamartoma Tumor Syndrome ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167650
rs1114167650
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs121909241
rs121909241
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 GeneticVariation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
dbSNP: rs121913293
rs121913293
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
dbSNP: rs121913294
rs121913294
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
dbSNP: rs138336847
rs138336847
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs138336847
rs138336847
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 GeneticVariation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1554897854
rs1554897854
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1554897889
rs1554897889
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1554897889
rs1554897889
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1554898242
rs1554898242
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1554900675
rs1554900675
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs398123318
rs398123318
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs587776667
rs587776667
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs587776667
rs587776667
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs587781784
rs587781784
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs587782350
rs587782350
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 GeneticVariation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
dbSNP: rs587782455
rs587782455
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs587782455
rs587782455
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs727504114
rs727504114
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs786201041
rs786201041
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs786201041
rs786201041
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs786203847
rs786203847
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs786204858
rs786204858
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		T 0.700 CausalMutation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761 2017
dbSNP: rs876661024
rs876661024
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1057517809
rs1057517809
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016