| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease type 4F | |
| | | Deletion (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4F +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene