| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type IA | |
| | | Deletion (frameshift variant +1 more) | Charcot-Marie-Tooth disease type 1E | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type IA | |
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