| | LOC126806176, LOC126806177 +1047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933242, LOC129933243 +1631 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129934199, LOC129934200 +2457 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (intron variant) | MPV17-related mitochondrial DNA maintenance defect +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +1 more | |
| | | Copy number gain | See cases | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |