| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (splice acceptor variant) | Charcot-Marie-Tooth disease, axonal, type 2EE +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | |
| | | Single nucleotide variant (missense variant) | Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more | GPathogenic/Likely pathogenic |
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