Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene. 9915974

1999
dbSNP: rs121909224
rs121909224
PTEN
T 0.700 CausalMutation CLINVAR Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management. 28655553

2018
dbSNP: rs886044679
rs886044679
PTEN
T 0.700 CausalMutation CLINVAR Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. 26185318

2015
dbSNP: rs121913291
rs121913291
PTEN
CA 0.700 CausalMutation CLINVAR Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome. 20962022

2011
dbSNP: rs876661024
rs876661024
PTEN
C 0.700 CausalMutation CLINVAR Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. 24379037

2013
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583

1999
dbSNP: rs1114167632
rs1114167632
PTEN
CA 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
dbSNP: rs121913291
rs121913291
PTEN
CA 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
dbSNP: rs121913293
rs121913293
PTEN
T 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
dbSNP: rs1554900587
rs1554900587
PTEN
GT 0.700 CausalMutation CLINVAR The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. 17526801

2007
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: rs121913294
rs121913294
PTEN
A 0.700 CausalMutation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009
dbSNP: rs121913294
rs121913294
PTEN
A 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: rs398123317
rs398123317
PTEN
C 0.700 CausalMutation CLINVAR The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1. 9600246

1998
dbSNP: rs876660634
rs876660634
PTEN
G 0.700 CausalMutation CLINVAR The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1. 9600246

1998
dbSNP: rs1554893756
rs1554893756
PTEN
A 0.700 CausalMutation CLINVAR Systemic lupus erythematosus in a patient with PTEN hamartoma tumour syndrome. 24641667

2014
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: rs121909238
rs121909238
PTEN
G 0.700 CausalMutation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs121909239
rs121909239
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: rs121909240
rs121909240
PTEN
C 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: rs587782360
rs587782360
PTEN
G 0.700 CausalMutation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007
dbSNP: rs786204900
rs786204900
PTEN
C 0.700 CausalMutation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007
dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs121909229
rs121909229
PTEN
A 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014