| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Yunis-Varon syndrome +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (splice acceptor variant) | Amyotrophic lateral sclerosis type 11 | |
| | | Single nucleotide variant (missense variant) | Amyotrophic lateral sclerosis type 11 | |
| | | Single nucleotide variant (nonsense) | Amyotrophic lateral sclerosis type 11 | |
Click to view in NCBI Gene