| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +2 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Hypotonia +2 more | |
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