| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene