| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NDUFV1, LOC126861242 (R386C +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | LOC126861242, NDUFV1 (R405fs +1 more) | Deletion (frameshift variant) | Mitochondrial complex 1 deficiency, nuclear type 4 | |
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