| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hereditary spastic paraplegia +4 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 5 +2 more | GConflicting classifications of pathogenicity |
| | | Insertion (inframe_insertion) | Hereditary spastic paraplegia 11 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Amyotrophic lateral sclerosis type 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2X +3 more | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 5 +5 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease axonal type 2X +6 more | |
Click to view in NCBI Gene