Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514559
rs397514559
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2013

dbSNP: rs397514559
rs397514559
0.800 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2013

dbSNP: rs397514560
rs397514560
0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2013

dbSNP: rs397514560
rs397514560
0.800 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2013

dbSNP: rs121909239
rs121909239
0.800 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2006

dbSNP: rs121909239
rs121909239
0.800 CausalMutation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2006

dbSNP: rs1057519368
rs1057519368
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
0.700 CausalMutation CLINVAR Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency. 27426521

2017

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

2017

dbSNP: rs794729664
rs794729664
0.700 CausalMutation CLINVAR A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome. 26443266

2017

dbSNP: rs797045066
rs797045066
0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2017

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

2015

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

2015

dbSNP: rs797045904
rs797045904
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

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

2014

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

2014

dbSNP: rs863224909
rs863224909
0.700 GeneticVariation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

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

2013

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

2013

dbSNP: rs398123323
rs398123323
0.700 CausalMutation CLINVAR Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955

2013

dbSNP: rs797045066
rs797045066
0.700 CausalMutation CLINVAR Clinical whole-exome sequencing for the diagnosis of mendelian disorders. 24088041

2013

dbSNP: rs121909231
rs121909231
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

2012

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

2011

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

2006

dbSNP: rs121909240
rs121909240
0.700 GeneticVariation UNIPROT Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2006