| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | MPV17-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease, axonal, type 2EE | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, type 2EE +1 more | |
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