| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication | Charcot-Marie-Tooth disease, type I | |
| | | Deletion | Charcot-Marie-Tooth disease, type I | |
| | | Deletion (frameshift variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate D | |
| | | Deletion (nonsense) | Charcot-Marie-Tooth disease type 2J | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Peripheral neuropathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate D | |
| | | Duplication (frameshift variant) | Roussy-Lévy syndrome | |
| | | Duplication (frameshift variant) | Roussy-Lévy syndrome | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (synonymous variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Protein only | Charcot-Marie-Tooth disease type 1B | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B | |
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