| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | EP300, LOC126863158 (K1024fs +1 more) | Insertion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
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