| | 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 | |
| | | 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) | 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 | |
| | PPP1R16A, PPP1R42 +593 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Microsatellite | Epilepsy, familial adult myoclonic, 1 | |