| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Leigh syndrome +2 more | GConflicting classifications of pathogenicity |
| | LOC126861242, NDUFV1 (R386C +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +2 more | GPathogenic/Likely pathogenic |
| | LOC126861242, NDUFV1 (R386H +1 more) | Single nucleotide variant (missense variant) | NDUFV1-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Complex I deficiency | |
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