| | | Copy number gain | See cases | |
| | LOC126862711, LOC126862712 +1643 more | Copy number gain | See cases | |
| | LOC130062667, LOC130062668 +1643 more | Copy number gain | See cases | |
| | LOC130062278, LOC130062279 +1643 more | Copy number gain | See cases | |
| | LOC126862732, LOC126862733 +1643 more | Copy number gain | See cases | |
| | ANKRD12, ANKRD29 +1642 more | Copy number gain | See cases | |
| | SERPINB12, SERPINB13 +1643 more | Copy number gain | See cases | |
| | LOC125368553, LOC125368554 +1643 more | Copy number gain | See cases | |
| | LOC130062355, LOC130062356 +1642 more | Copy number gain | See cases | |
| | LOC126862717, LOC126862718 +1266 more | Copy number gain | See cases | |
| | LOC132090510, LOC132090511 +1089 more | Copy number gain | See cases | |
| | LOC132211113, LOC132211114 +1266 more | Copy number gain | See cases | |
| | LOC130062787, LOC130062788 +1005 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062694, LOC130062695 +887 more | Copy number gain | See cases | |
| | LINC01929, LINC02565 +879 more | Copy number gain | See cases | |
| | LOC126862796, LOC126862797 +733 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062613, LOC130062614 +664 more | Copy number loss | See cases | |
| | LOC130062683, LOC130062684 +664 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129391005, LOC129391006 +644 more | Copy number loss | See cases | |
| | LOC130062551, LOC130062552 +636 more | Copy number loss | See cases | |
| | LOC126862818, LOC126862819 +636 more | Copy number gain | See cases | |
| | LOC130062592, LOC130062593 +602 more | Copy number loss | See cases | |
| | LOC130062765, LOC130062766 +572 more | Copy number loss | See cases | |
| | LOC108281158, LOC110120868 +573 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC132090499, LOC132090500 +200 more | Copy number gain | See cases | |
| | SERPINB13, SERPINB2 +436 more | Copy number loss | See cases | |
| | LOC126862831, LOC130062709 +430 more | Deletion | Deletion of long arm of chromosome 18 | |
| | LOC130062750, LOC130062751 +430 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Erythrokeratodermia variabilis et progressiva 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 4 | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Erythrokeratodermia variabilis et progressiva 4 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Erythrokeratodermia variabilis et progressiva 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Erythrokeratodermia variabilis et progressiva 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (inframe_indel) | Erythrokeratodermia variabilis et progressiva 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Trisomy 18 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Global developmental delay | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Deletion of long arm of chromosome 18 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |