| | | Single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | Mitochondrial non-syndromic sensorineural hearing loss | |
| | | Indel | Mitochondrial non-syndromic sensorineural hearing loss | |
| | | Duplication | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Single nucleotide variant | Mitochondrial non-syndromic sensorineural hearing loss | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Leigh syndrome | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Gentamicin response | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | tobramycin response - Toxicity +5 more | GLikely pathogenic; drug response |
| | | Single nucleotide variant | kanamycin response - Toxicity +3 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | streptomycin response - Toxicity +6 more | GPathogenic; drug response |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Mitochondrial non-syndromic sensorineural hearing loss | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |