| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (frameshift variant) | Charcot-Marie-Tooth disease type 4C | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4C +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene