| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Duplication (inframe_insertion) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Duplication (inframe_insertion) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | See cases +3 more | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +2 more | |
| | | Duplication (frameshift variant) | Menke-Hennekam syndrome 1 | |
| | | Indel | Rubinstein-Taybi syndrome due to CREBBP mutations +1 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 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +3 more | |
| | | Microsatellite (inframe_deletion) | Rubinstein-Taybi syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +4 more | |
| | | Microsatellite (inframe_deletion) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Menke-Hennekam syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | CREBBP-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +1 more | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | |
| | | Single nucleotide variant (synonymous variant) | Menke-Hennekam syndrome 1 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Menke-Hennekam syndrome 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Menke-Hennekam syndrome 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Marfanoid habitus and intellectual disability +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +3 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +4 more | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +4 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to CREBBP mutations +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |