| | LOC130000015, LOC130000016 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121192, LOC110121196 +3656 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000067, LOC130000068 +3656 more | Copy number gain | See cases | |
| | GPAT4, GPAT4-AS1 +3106 more | Copy number gain | See cases | |
| | LOC130000897, LOC130000898 +1960 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000867, LOC130000868 +1686 more | Copy number gain | See cases | |
| | LOC130001282, LOC130001283 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001243, LOC130001244 +1204 more | Copy number gain | See cases | |
| | LOC130001328, LOC130001329 +1067 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC114827840, LOC121331310 +961 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC03024, LOC126860503 +558 more | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Mungan syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | RAD21-related condition | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 4 | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 4 | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (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 | |
| | | Deletion (splice acceptor variant +1 more) | Cornelia de Lange syndrome 4 | |
| | | Duplication (intron variant) | not provided | |
| | | Duplication (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 (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Deletion (frameshift variant) | not provided | |
| | | Deletion (frameshift variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | RAD21-related condition | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cornelia de Lange syndrome 4 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Duplication (inframe_insertion) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 +1 more | |
| | | Duplication (frameshift variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Indel (frameshift variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cornelia de Lange syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |