| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Juvenile primary lateral sclerosis +2 more | |
| | | Single nucleotide variant (nonsense) | Amyotrophic lateral sclerosis type 2, juvenile +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene