| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NDUFV2, NDUFV2-AS1 (R143*) | Single nucleotide variant (nonsense) | Mitochondrial complex 1 deficiency, nuclear type 7 | |
| | NDUFV2, NDUFV2-AS1 (E194K) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 7 | |
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