Gene: EP300 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 27964710

2016
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 27465822

2016
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933

2016
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927

2016
dbSNP: rs1555907278
rs1555907278
EP300
T 0.700 CausalMutation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933

2016
dbSNP: rs1555907278
rs1555907278
EP300
T 0.700 CausalMutation CLINVAR First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 27964710

2016
dbSNP: rs1555907278
rs1555907278
EP300
T 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 27465822

2016
dbSNP: rs1555907278
rs1555907278
EP300
T 0.700 CausalMutation CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927

2016
dbSNP: rs1555911313
rs1555911313
EP300
T 0.700 CausalMutation CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927

2016
dbSNP: rs1555911313
rs1555911313
EP300
T 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 27465822

2016
dbSNP: rs1555911313
rs1555911313
EP300
T 0.700 CausalMutation CLINVAR First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 27964710

2016
dbSNP: rs1555911313
rs1555911313
EP300
T 0.700 CausalMutation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933

2016
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. 26279656

2015
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 24476420

2015
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426

2015
dbSNP: rs1555907278
rs1555907278
EP300
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 24476420

2015
dbSNP: rs1555907278
rs1555907278
EP300
T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426

2015
dbSNP: rs1555907278
rs1555907278
EP300
T 0.700 CausalMutation CLINVAR Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. 26279656

2015
dbSNP: rs1555911313
rs1555911313
EP300
T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426

2015
dbSNP: rs1555911313
rs1555911313
EP300
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. 24476420

2015
dbSNP: rs1555911313
rs1555911313
EP300
T 0.700 CausalMutation CLINVAR Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome. 26279656

2015
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 24352918

2014
dbSNP: rs1555907278
rs1555907278
EP300
T 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 24352918

2014
dbSNP: rs1555911313
rs1555911313
EP300
T 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 24352918

2014
dbSNP: rs1555905780
rs1555905780
EP300
T 0.700 CausalMutation CLINVAR Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. 20717166

2011