Gene: EP300 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1210404526
rs1210404526
EP300 ; EP300-AS1
T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
dbSNP: rs1569118537
rs1569118537
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: rs886037664
rs886037664
EP300
G 0.700 CausalMutation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933

2016
dbSNP: rs1057519375
rs1057519375
EP300 ; EP300-AS1
T 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: rs1114167305
rs1114167305
EP300
C 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: rs1114167306
rs1114167306
EP300
G 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: rs139310551
rs139310551
EP300 ; EP300-AS1
T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426

2015
dbSNP: rs1555912040
rs1555912040
EP300 ; EP300-AS1
CATGT 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: rs587778256
rs587778256
EP300 ; EP300-AS1
A 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: rs886041830
rs886041830
EP300
T 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: rs886037664
rs886037664
EP300
G 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: rs565779970
rs565779970
EP300
A 0.700 CausalMutation CLINVAR Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485

2005
dbSNP: rs1057517732
rs1057517732
EP300 ; EP300-AS1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057521737
rs1057521737
EP300
C 0.700 CausalMutation CLINVAR

dbSNP: rs137853039
rs137853039
EP300
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555902247
rs1555902247
EP300
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555909666
rs1555909666
EP300
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555909697
rs1555909697
EP300
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555910482
rs1555910482
EP300
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555910602
rs1555910602
EP300
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555910821
rs1555910821
EP300
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555911316
rs1555911316
EP300
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555911334
rs1555911334
EP300
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555912238
rs1555912238
EP300 ; EP300-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569090642
rs1569090642
EP300
T 0.700 CausalMutation CLINVAR