| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leigh syndrome +4 more | GConflicting classifications of pathogenicity |
| | LOC126861242, NDUFV1 (R386H +1 more) | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | LOC126861242, NDUFV1 (G379D +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | LOC126861242, NDUFV1 (T423M +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +4 more | GPathogenic/Likely pathogenic |
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