Gene: PTEN ×
Source: CLINVAR ×
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: rs121909221
rs121909221
PTEN
A 0.800 CausalMutation CLINVAR

dbSNP: rs121909229
rs121909229
PTEN
A 0.800 CausalMutation CLINVAR

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: rs1114167621
rs1114167621
PTEN
A 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: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835

1975
dbSNP: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
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: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. 11476841

2001
dbSNP: rs121909232
rs121909232
PTEN
A 0.700 CausalMutation CLINVAR Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome. 16007494

2005
dbSNP: rs1224040268
rs1224040268
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs138336847
rs138336847
PTEN
A 0.700 CausalMutation CLINVAR Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. 18080326

2008
dbSNP: rs1554825165
rs1554825165
PTEN
A 0.700 CausalMutation CLINVAR

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

2017
dbSNP: rs1564568689
rs1564568689
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs370795352
rs370795352
PTEN
A 0.700 GeneticVariation CLINVAR

dbSNP: rs398123330
rs398123330
PTEN
A 0.700 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: rs398123330
rs398123330
PTEN
A 0.700 CausalMutation CLINVAR Inhibition of H-Ras transformation by the PTEN/MMAC1/TEP1 tumor suppressor gene. 10698513

2000
dbSNP: rs398123330
rs398123330
PTEN
A 0.700 CausalMutation CLINVAR PTEN. 24905788

2014
dbSNP: rs398123330
rs398123330
PTEN
A 0.700 CausalMutation CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583

1999
dbSNP: rs587776667
rs587776667
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs587776672
rs587776672
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs587782607
rs587782607
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs786201041
rs786201041
PTEN
A 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017