Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909231
rs121909231
PTEN
T 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: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation 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: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation 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: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs876659443
rs876659443
PTEN
G 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001