| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | EP400-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EP400-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | EP400-related disorder +1 more | |
| | EP400, LOC124849291 (S1775I) | Single nucleotide variant (missense variant) | EP400-related disorder | |
Click to view in NCBI Gene