| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | UBA1-related disorder +3 more | |
Click to view in NCBI Gene