| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Proximal spinal muscular atrophy | |
| | | Microsatellite (frameshift variant) | Amyotrophic lateral sclerosis +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 4 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene