Gene: CREBBP ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044860
rs797044860
CREBBP
C 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: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis. 27342041

2016
dbSNP: rs797044860
rs797044860
CREBBP
C 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: clinical features, genetic basis, diagnosis, and management. 25599811

2015
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. 25108505

2015
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907

2015
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907

2015
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. 25599811

2015
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. 25108505

2015
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. 25599811

2015
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907

2015
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. 25108505

2015
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. 25599811

2015
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907

2015
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. 25108505

2015
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986

2008
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986

2008
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986

2008
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986

2008
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 16783566

2006
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation CLINVAR Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 16783566

2006
dbSNP: rs199821421
rs199821421
CREBBP
T 0.700 GeneticVariation CLINVAR Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 16783566

2006
dbSNP: rs797044860
rs797044860
CREBBP
C 0.700 CausalMutation CLINVAR Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. 16783566

2006
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. 16021471

2005
dbSNP: rs1555471813
rs1555471813
CREBBP
T 0.700 CausalMutation CLINVAR Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485

2005