| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (inframe_insertion) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene