| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +1 more | |
| | | Single nucleotide variant (nonsense) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +1 more | GConflicting classifications of pathogenicity |
| | NDUFV1, LOC126861242 (R386C +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency, nuclear type 1 +2 more | GPathogenic/Likely pathogenic |
| | NDUFV1, LOC126861242 (R386H +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex I deficiency +4 more | GConflicting classifications of pathogenicity |
| | NDUFV1, LOC126861242 (R396W +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126861242, NDUFV1 (L438M +1 more) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 4 +2 more | |
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