EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Disease: RUBINSTEIN-TAYBI SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1210404526
rs1210404526
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs1569118537
rs1569118537
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		G 0.700 CausalMutation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933 2016
dbSNP: rs1057519375
rs1057519375
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426 2015
dbSNP: rs1555912040
rs1555912040
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		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
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057521737
rs1057521737
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs137853039
rs137853039
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555902247
rs1555902247
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555909666
rs1555909666
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555909697
rs1555909697
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555910482
rs1555910482
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555910602
rs1555910602
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555910821
rs1555910821
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555911316
rs1555911316
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555911334
rs1555911334
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555912238
rs1555912238
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569090642
rs1569090642
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 CausalMutation CLINVAR