| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease type 4A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Charcot-Marie-Tooth disease axonal type 2K | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2K +5 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive | |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease type 4A +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Peripheral axonal neuropathy +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2K | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2K | |
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