Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041877
rs886041877
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 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 Hamartomatous polyposis syndromes: a review. 25022750

2014
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: rs886041877
rs886041877
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 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 PTEN hamartoma tumor syndrome: an overview. 19668082

2009
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

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: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195

2007
dbSNP: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
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: rs886041877
rs886041877
PTEN
G 0.700 GeneticVariation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001