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