| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, type 5A | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2D | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 2D | |
| | | Single nucleotide variant (missense variant) | Distal spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Charcot-Marie-Tooth disease | |
| | | Insertion (frameshift variant +1 more) | Motor neuron disease | |
| | | Single nucleotide variant (intron variant) | not specified | |
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