| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
Click to view in NCBI Gene