| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | CSN2, LOC129389218 +330 more | Deletion | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | Progressive myoclonic epilepsy | |
| | | Copy number gain | not provided | |
| | ABRAXAS1, ADAMTS3 +97 more | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | See cases | |
| | LOC129992695, LOC129992696 +533 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABRAXAS1, ADAMTS3 +331 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129992714, LOC129992715 +236 more | Copy number loss | See cases | |