| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Mitochondrial complex I deficiency, nuclear type 1 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | NDUFV1, LOC126861242 (M396I +1 more) | Single nucleotide variant (missense variant) | Leigh syndrome +3 more | |
| | LOC126861242, NDUFV1 (R392S +1 more) | Single nucleotide variant (missense variant) | not provided | |
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