| Rubinstein-Taybi Syndrome |
C0035934 |
CREBBP
|
Causal
Pathogenic evidence from ClinVar
|
9294190, 11331617, 12070251, 12566391, 12930888, 15706485, 16359492, 17052327, 18792986, 21932317, 26633545, 26788536 |
ClinVar |
|
EP300
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| RUBINSTEIN-TAYBI SYNDROME 1 |
C4551859 |
CREBBP
|
Causal
Pathogenic evidence from ClinVar
|
9294190, 11331617, 12070251, 12114483, 12566391, 12930888, 15706485, 18792986, 20684013, 24616510, 25388907, 27311832 |
ClinVar |
|
EP300
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Rubinstein-Taybi syndrome due to 16p13.3 microdeletion |
353281 |
CREBBP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Rubinstein-Taybi syndrome due to CREBBP mutations |
353277 |
CREBBP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| RUBINSTEIN-TAYBI SYNDROME 2 |
C3150941 |
EP300
|
Causal
Pathogenic evidence from ClinVar
|
15706485, 24352918, 25712426, 25741868, 26486927, 27648933, 29706646 |
ClinVar |
|
EP300-AS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
25712426, 25741868, 29706646 |
- |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
353284 |
EP300
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
