| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (frameshift variant +1 more) | Motor neuron disease | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2D | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
Click to view in NCBI Gene