Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809

2013
dbSNP: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR Retinal angioma in a patient with Cowden disease. 12614768

2003
dbSNP: rs1060500126
rs1060500126
PTEN
G 0.700 GeneticVariation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2011
dbSNP: rs1064792910
rs1064792910
PTEN
TGACAATCATGTTG 0.700 CausalMutation CLINVAR

dbSNP: rs1064792911
rs1064792911
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: rs1064792911
rs1064792911
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: rs1064793345
rs1064793345
PTEN
C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
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: rs1085308039
rs1085308039
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs1085308040
rs1085308040
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660

2010
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328

2017
dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients. 11052475

2000
dbSNP: rs1085308041
rs1085308041
PTEN
C 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1085308041
rs1085308041
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: rs1085308041
rs1085308041
PTEN
G 0.700 GeneticVariation CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761

2017
dbSNP: rs1085308042
rs1085308042
PTEN
A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308043
rs1085308043
PTEN
G 0.700 CausalMutation CLINVAR Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. 9467011

1998
dbSNP: rs1085308043
rs1085308043
PTEN
G 0.700 CausalMutation CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221

2017
dbSNP: rs1085308043
rs1085308043
PTEN
G 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: rs1085308044
rs1085308044
PTEN ; KLLN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1085308045
rs1085308045
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308046
rs1085308046
PTEN
C 0.700 CausalMutation CLINVAR

dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
G 0.700 CausalMutation CLINVAR