| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4E | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1D | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Microsatellite (nonsense) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic paraplegia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4E +2 more | |
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