| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth Neuropathy X | |
| | | Duplication (frameshift variant) | Hand muscle atrophy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease X-linked dominant 1 | |
| | | Single nucleotide variant (missense variant) | Peripheral neuropathy | |
| | | Inversion | Elevated circulating creatine kinase concentration | |
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