| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Deletion (inframe_deletion) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
Click to view in NCBI Gene