Gene: PTEN ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519368
rs1057519368
PTEN
C 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs1057524874
rs1057524874
PTEN ; KLLN
GGA 0.700 CausalMutation CLINVAR

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: rs1114167667
rs1114167667
PTEN
G 0.700 CausalMutation CLINVAR

dbSNP: rs121909219
rs121909219
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909224
rs121909224
PTEN
T 0.700 CausalMutation CLINVAR

dbSNP: rs121909227
rs121909227
PTEN
T 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
dbSNP: rs121909227
rs121909227
PTEN
T 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757

2017
dbSNP: rs121909227
rs121909227
PTEN
T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121909227
rs121909227
PTEN
T 0.700 CausalMutation CLINVAR Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. 9832032

1998
dbSNP: rs121909227
rs121909227
PTEN
T 0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983

2000
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897

1997
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394

2014
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934

2013
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414

2011
dbSNP: rs121909231
rs121909231
PTEN
T 0.700 CausalMutation CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840

2013
dbSNP: rs121909238
rs121909238
PTEN
0.800 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs121909238
rs121909238
PTEN
0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015
dbSNP: rs121909238
rs121909238
PTEN
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909238
rs121909238
PTEN
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs121909239
rs121909239
PTEN
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2012
dbSNP: rs121909239
rs121909239
PTEN
0.800 GeneticVariation UNIPROT Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. 26637798

2015