Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123317
rs398123317
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. 25288137

2015
dbSNP: rs398123317
rs398123317
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. 25722288

2015
dbSNP: rs398123317
rs398123317
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429

2015
dbSNP: rs398123317
rs398123317
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53. 20926450

2011
dbSNP: rs398123317
rs398123317
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347

2011
dbSNP: rs398123317
rs398123317
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function. 19457929

2009
dbSNP: rs398123317
rs398123317
PTEN
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 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