| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Amyotrophic lateral sclerosis type 2, juvenile +2 more | |
| | | Single nucleotide variant (synonymous variant) | Juvenile primary lateral sclerosis | |
| | | Single nucleotide variant (missense variant) | Juvenile primary lateral sclerosis +1 more | |
Click to view in NCBI Gene