| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NDUFV1, LOC126861242 (R386H +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +2 more | |
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