| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | |
| | | Single nucleotide variant (missense variant) | Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant +1 more | |
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