PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Proteus-Like Syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085308041
rs1085308041
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1085308043
rs1085308043
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1114167621
rs1114167621
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1114167622
rs1114167622
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs1114167650
rs1114167650
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs121913293
rs121913293
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		T 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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		C 0.700 CausalMutation 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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		A 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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
dbSNP: rs876661024
rs876661024
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		C 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: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		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