Gene: CREBBP ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555473499
rs1555473499
CREBBP
G 0.700 CausalMutation 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: 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 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 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: 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 CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome. 26788536

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 Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. 26956253

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 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 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: 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: rs797044860
rs797044860
CREBBP
C 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 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: 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: 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: rs1555473499
rs1555473499
CREBBP
G 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