| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Infantile-onset X-linked spinal muscular atrophy | |
| | | 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 condition +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Infantile-onset X-linked spinal muscular atrophy | |
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