| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Carcinoma of colon +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Rare genetic intellectual disability | |
Click to view in NCBI Gene