| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129996857, NDUFAF4 (K24E) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129996857, NDUFAF4 (L14I) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 15 +1 more | |
| | NDUFAF4, LOC129996857 (R7L) | Indel (missense variant) | not specified | |
| | LOC129996857, NDUFAF4 (M1V) | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex I deficiency, nuclear type 1 +1 more | |
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