Gene: CREBBP ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. 27165009

2016
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. 26603346

2016
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. 26788536

2016
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. 26956253

2016
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 27311832

2016
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. 27342041

2016
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. 26788536

2016
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. 27165009

2016
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. 26956253

2016
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. 26603346

2016
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 27311832

2016
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. 27342041

2016
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. 27165009

2016
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 27311832

2016
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. 27342041

2016
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. 26788536

2016
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report. 26603346

2016
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. 26956253

2016
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS. 27165009

2016
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 27311832

2016
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. 26956253

2016