| | | Copy number gain | See cases | |
| | LOC129999937, LOC129999938 +3658 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860501, LOC126860502 +3652 more | Copy number gain | See cases | |
| | MIR7705, MIR7848 +3656 more | Copy number gain | See cases | |
| | LOC130000156, LOC130000157 +3106 more | Copy number gain | See cases | |
| | LINC02894, LINC02906 +1960 more | Copy number gain | See cases | |
| | LOC130001211, LOC130001212 +1690 more | Copy number gain | See cases | |
| | LOC130001139, LOC130001140 +1686 more | Copy number gain | See cases | |
| | LOC126860518, LOC126860519 +1552 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000964, LOC130000965 +1531 more | Copy number gain | See cases | |
| | LOC130000908, LOC130000909 +1406 more | Copy number gain | See cases | |
| | LOC130001371, LOC130001372 +1329 more | Copy number gain | See cases | |
| | LOC130001420, LOC130001421 +1204 more | Copy number gain | See cases | |
| | LOC130001415, LOC130001416 +1067 more | Copy number gain | See cases | |
| | LOC110120802, LOC111556135 +93 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC124188223, LOC124188224 +961 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite | Epilepsy, familial adult myoclonic, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 1 | |
| | | Copy number loss | See cases | |
| | LOC126860479, SAMD12 (T107I) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LOC126860479, SAMD12 (R98W +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 1 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Exostoses, multiple, type 1 | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Multiple congenital exostosis | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Polydactyly | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | DCAF4L2, DCSTAMP +333 more | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Microsatellite | Epilepsy, familial adult myoclonic, 1 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Trichorhinophalangeal dysplasia type I | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | PPDPFL, PPP1R16A +665 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | SLC45A4, SLC7A13 +189 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite | Epilepsy, familial adult myoclonic, 1 | |