Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762518389
rs762518389
PTEN
A 0.700 CausalMutation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015
dbSNP: rs762518389
rs762518389
PTEN
A 0.700 CausalMutation CLINVAR A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 24498881

2014
dbSNP: rs762518389
rs762518389
PTEN
A 0.700 CausalMutation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs762518389
rs762518389
PTEN
A 0.700 CausalMutation CLINVAR In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 17942903

2007
dbSNP: rs762518389
rs762518389
PTEN
A 0.700 CausalMutation CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800

2007
dbSNP: rs762518389
rs762518389
PTEN
A 0.700 CausalMutation CLINVAR A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. 14675182

2003