| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Hereditary spastic paraplegia 11 | |
| | | Single nucleotide variant (synonymous variant) | Charcot-Marie-Tooth disease axonal type 2X +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene