| | | Single nucleotide variant (synonymous variant) | not provided | |
| | COX16, LOC130055985 +1 more (G17S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | COX16, SYNJ2BP-COX16 (P60L +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | COX16, SYNJ2BP-COX16 (N56D +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | COX16, SYNJ2BP-COX16 (I146M +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | COX16, SYNJ2BP-COX16 (K121E +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | COX16, SYNJ2BP-COX16 (S117L +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | COX16, SYNJ2BP-COX16 (L141M +4 more) | Single nucleotide variant (missense variant) | not specified | |
| | SYNJ2BP, SYNJ2BP-COX16 (V133A) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | COX16, SYNJ2BP-COX16 (S114P +4 more) | Single nucleotide variant (missense variant) | not specified +1 more | |
| | COX16, LOC130055985 +1 more (V20I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | COX16, SYNJ2BP-COX16 (R34H +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | SYNJ2BP, SYNJ2BP-COX16 (R86C) | Single nucleotide variant (missense variant) | not specified | |
| | SYNJ2BP, SYNJ2BP-COX16 (R142W) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | COX16, LOC130055985 +1 more (K14T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | COX16, SYNJ2BP-COX16 (R82* +4 more) | Single nucleotide variant (nonsense) | Mitochondrial complex IV deficiency, nuclear type 22 | |
| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056152, LOC130056153 +503 more | Copy number loss | See cases | |