| | | Single nucleotide variant | Mitochondrial disease +5 more | GLikely pathogenic; drug response |
| | | Deletion | Primary dilated cardiomyopathy +1 more | |
| | | Deletion | Primary dilated cardiomyopathy +1 more | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Deletion | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial non-syndromic sensorineural hearing loss | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial non-syndromic sensorineural hearing loss | |
| | | Single nucleotide variant | Mitochondrial non-syndromic sensorineural hearing loss | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Cytochrome-c oxidase deficiency disease +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Cytochrome-c oxidase deficiency disease | |
| | | Duplication | Mitochondrial disease | |
| | | Deletion | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Progressive external ophthalmoplegia | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +1 more | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Cytochrome-c oxidase deficiency disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Mitochondrial disease | |