Gene: PTEN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204862
rs786204862
PTEN
A 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: rs786204862
rs786204862
PTEN
A 0.700 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998
dbSNP: rs1554825530
rs1554825530
PTEN
ACT 0.700 GeneticVariation CLINVAR

dbSNP: rs397515374
rs397515374
PTEN
AT 0.700 CausalMutation CLINVAR

dbSNP: rs1060500126
rs1060500126
PTEN
C 0.800 GeneticVariation CLINVAR

dbSNP: rs121909223
rs121909223
PTEN
C 0.800 CausalMutation CLINVAR

dbSNP: rs121909226
rs121909226
PTEN
C 0.800 CausalMutation CLINVAR

dbSNP: rs398123317
rs398123317
PTEN
C 0.800 GeneticVariation CLINVAR

dbSNP: rs786201044
rs786201044
PTEN
C 0.710 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
dbSNP: rs786201044
rs786201044
PTEN
C 0.710 CausalMutation CLINVAR To the best of our knowledge, the C136R mutation has not previously been reported in CD patients. 10848731

2000
dbSNP: rs786201044
rs786201044
PTEN
C 0.710 CausalMutation CLINVAR Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome. 23886400

2013
dbSNP: rs786201044
rs786201044
PTEN
C 0.710 CausalMutation CLINVAR Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. 22281088

2012
dbSNP: rs786201044
rs786201044
PTEN
C 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: rs786201044
rs786201044
PTEN
C 0.710 CausalMutation CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934

2013
dbSNP: rs786201044
rs786201044
PTEN
C 0.710 CausalMutation CLINVAR "Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""." 22520842

2012
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 CausalMutation CLINVAR Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. 20712882

2010
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 CausalMutation CLINVAR Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome. 29043291

2017
dbSNP: rs1064793243
rs1064793243
PTEN
C 0.700 CausalMutation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2015
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
dbSNP: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs1085308041
rs1085308041
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1114167622
rs1114167622
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs121913292
rs121913292
PTEN
C 0.700 CausalMutation CLINVAR Cancer phenomics: RET and PTEN as illustrative models. 17167516

2007