| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Duplication (frameshift variant) | CREBBP-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | CREBBP-related disorder | |
Click to view in NCBI Gene