| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | LOC130067651, LOC130067652 +1004 more | Copy number gain | See cases | |
| | LOC130067596, LOC130067597 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | EP300-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EP300-related disorder | |
| | | 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) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | EP300-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EP300-related disorder | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EP300-related disorder | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +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 | |
| | EP300, LOC130067530 (P16fs) | Duplication (frameshift variant) | EP300-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 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 (A22V) | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | 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) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Duplication (intron variant) | EP300-related disorder | |
| | | Single nucleotide variant (intron variant) | EP300-related disorder | |
| | | 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) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +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 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) | not provided +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) | EP300-related disorder | |
| | | 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) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | | 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | | Single nucleotide variant (synonymous variant) | EP300-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | EP300-related disorder | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Single nucleotide variant (missense variant) | EP300-related disorder | |
| | | Deletion (inframe_deletion) | EP300-related disorder | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | |
| | | Single nucleotide variant (synonymous variant) | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |