| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2X +4 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia 11 | |
| | | Deletion | Hereditary spastic paraplegia 11 | |
Click to view in NCBI Gene