Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204929
rs786204929
PTEN
0.010 GeneticVariation BEFREE We report the case of a girl with Cowden syndrome (CS) presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures carrying a novel missense mutation 385G>A (G129R) in the PTEN gene. 22469695

2012
dbSNP: rs762518389
rs762518389
PTEN
0.010 GeneticVariation BEFREE Moreover, by functional analysis we found that the ability of PTEN N48K mutant protein to inhibit the activation of the proto-oncogene PKB/Akt was impaired, supporting the involvement of N48K mutation in Cowden disease. 14675182

2003
dbSNP: rs1085308048
rs1085308048
PTEN
0.010 GeneticVariation BEFREE This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome. 10193515

1998
dbSNP: rs863224666
rs863224666
PTEN
C 0.700 CausalMutation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350

2018
dbSNP: rs863224666
rs863224666
PTEN
C 0.700 CausalMutation CLINVAR Multiplex assessment of protein variant abundance by massively parallel sequencing. 29785012

2018
dbSNP: rs1057517809
rs1057517809
PTEN
A 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 CausalMutation CLINVAR Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome. 29043291

2017
dbSNP: rs1085308041
rs1085308041
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1085308043
rs1085308043
PTEN
G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167621
rs1114167621
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167622
rs1114167622
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167650
rs1114167650
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017
dbSNP: rs138336847
rs138336847
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1554897854
rs1554897854
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1554897889
rs1554897889
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1554897889
rs1554897889
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1554898242
rs1554898242
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1554900675
rs1554900675
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1564566706
rs1564566706
PTEN
G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs398123318
rs398123318
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587776667
rs587776667
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587776667
rs587776667
PTEN
T 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

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

2017