| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 2 +3 more | |
| | EP300, LOC126863158 (I997V +1 more) | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +3 more | |
| | | Single nucleotide variant (synonymous variant) | Menke-Hennekam syndrome 2 +3 more | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 2 +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
Click to view in NCBI Gene