| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Duplication (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Indel (splice acceptor variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +1 more | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Duplication (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Duplication (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +1 more | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (splice acceptor variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Copy number loss | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Duplication | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (splice donor variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | CREBBP-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | EP300, LOC126863158 (Q939* +1 more) | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (inframe_deletion) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Microsatellite (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +1 more | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +3 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (splice acceptor variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (inframe_deletion) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Insertion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (nonsense) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Deletion (frameshift variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Indel | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Menke-Hennekam syndrome 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations | |