| | | 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 | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Insertion | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | 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 | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Deletion | 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 | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |