| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130065433, NDUFAF5 (R12W) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | LOC130065433, NDUFAF5 (P14L) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | LOC130065433, NDUFAF5 (K52T) | Single nucleotide variant (missense variant +2 more) | Mitochondrial complex 1 deficiency, nuclear type 16 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex 1 deficiency, nuclear type 16 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | NDUFAF5-related condition +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mitochondrial complex I deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
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