| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive distal spinal muscular atrophy 1 | |
| | | Deletion (frameshift variant) | Neuronopathy, distal hereditary motor, autosomal dominant +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene