| | | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | LOC112695092, LOC112695093 +1004 more | Copy number gain | See cases | |
| | LOC130067848, LOC130067849 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067524, LOC130067525 +27 more | Duplication | Nephronophthisis-like nephropathy 1 | |
| | | Single nucleotide variant | not provided | |
| | EP300, LOC130067528 +1 more | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | EP300, LOC130067528 +2 more | Deletion | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | EP300-related condition | |
| | | Single nucleotide variant (missense variant) | Menke-Hennekam syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | EP300-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | EP300-related condition | |
| | | Single nucleotide variant (missense variant) | EP300-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | EP300, LOC130067530 (K14N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | EP300-related condition +2 more | |
| | EP300, LOC130067530 (P16R) | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | EP300, LOC130067530 (S24fs) | Microsatellite (frameshift variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | EP300, LOC130067530 (G30S) | Single nucleotide variant (missense variant) | EP300-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | EP300-related condition | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Insertion (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (intron variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Microsatellite (frameshift variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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 (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | EP300-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Single nucleotide variant (missense variant) | EP300-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | EP300-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more | |
| | | Single nucleotide variant (missense variant) | EP300-related condition | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Duplication (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | EP300-related condition | |
| | | Single nucleotide variant (missense variant) | EP300-related condition +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (synonymous 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) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | EP300-related condition | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | EP300-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | EP300-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | EP300-related condition | |
| | | Single nucleotide variant (synonymous variant) | EP300-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | EP300-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |