| | LOC126860438, LOC126860439 +3663 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC105379224, LOC105379230 +3657 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129999966, LOC129999967 +3111 more | Copy number gain | See cases | |
| | LOC126860489, LOC126860490 +1963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126860535, LOC126860536 +1687 more | Copy number gain | See cases | |
| | LOC105375713, LOC105375742 +1553 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001109, LOC130001110 +1532 more | Copy number gain | See cases | |
| | LOC130001226, LOC130001227 +1407 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130000987, LOC130000988 +1205 more | Copy number gain | See cases | |
| | LOC130001173, LOC130001174 +1068 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 | |
| | LOC130001070, LOC130001071 +962 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130001241, LOC130001242 +559 more | 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) | 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 (S98R) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | LOC126860479, SAMD12 (R98W +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC126860479, SAMD12 (L86F) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC126860479, SAMD12 (P73L) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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 | |
| | | Deletion | not provided | |
| | | Deletion | Trichorhinophalangeal syndrome, type III +1 more | |
| | | Duplication | Trichorhinophalangeal syndrome, type III +2 more | |
| | | Deletion | Multiple congenital exostosis | |
| | | 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 | |
| | | 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 | |