| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Single nucleotide variant (splice donor variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +3 more | |
Click to view in NCBI Gene