| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EP300, LOC126863158 (S926* +1 more) | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | EP300, LOC126863158 (P928T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | EP300, LOC126863158 (S933* +1 more) | Duplication (nonsense) | Inborn genetic diseases | |
| | EP300, LOC126863158 (E1000D +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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