Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909218
rs121909218
PTEN
A 0.820 CausalMutation CLINVAR

dbSNP: rs587782350
rs587782350
PTEN
T 0.810 CausalMutation CLINVAR

dbSNP: rs121909221
rs121909221
PTEN
A 0.800 CausalMutation CLINVAR

dbSNP: rs121909222
rs121909222
PTEN
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909223
rs121909223
PTEN
C 0.800 CausalMutation CLINVAR

dbSNP: rs121909225
rs121909225
PTEN
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909226
rs121909226
PTEN
C 0.800 CausalMutation CLINVAR

dbSNP: rs121909229
rs121909229
PTEN
A 0.800 CausalMutation CLINVAR

dbSNP: rs121909231
rs121909231
PTEN
T 0.730 CausalMutation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
dbSNP: rs121909231
rs121909231
PTEN
T 0.730 CausalMutation CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934

2013
dbSNP: rs121909231
rs121909231
PTEN
T 0.730 CausalMutation CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583

1999
dbSNP: rs121909231
rs121909231
PTEN
T 0.730 CausalMutation CLINVAR A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation. 25756585

2015
dbSNP: rs121909231
rs121909231
PTEN
T 0.730 CausalMutation CLINVAR We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS. 10353779

1999
dbSNP: rs121909231
rs121909231
PTEN
T 0.730 CausalMutation CLINVAR Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897

1997
dbSNP: rs121909231
rs121909231
PTEN
T 0.730 CausalMutation CLINVAR Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983

2000
dbSNP: rs121909219
rs121909219
PTEN
T 0.710 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs121909219
rs121909219
PTEN
T 0.710 CausalMutation CLINVAR Mutations of the human PTEN gene. 10923032

2000
dbSNP: rs121909219
rs121909219
PTEN
T 0.710 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997
dbSNP: rs121909219
rs121909219
PTEN
T 0.710 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs121909224
rs121909224
PTEN
T 0.710 CausalMutation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs121909224
rs121909224
PTEN
T 0.710 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs121909224
rs121909224
PTEN
T 0.710 CausalMutation CLINVAR Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. 22266152

2012
dbSNP: rs121909224
rs121909224
PTEN
T 0.710 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288

1997
dbSNP: rs121909224
rs121909224
PTEN
T 0.710 CausalMutation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
dbSNP: rs121909224
rs121909224
PTEN
T 0.710 CausalMutation CLINVAR Mutations of the human PTEN gene. 10923032

2000