| 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 (synonymous 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 | |
Click to view in NCBI Gene