| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive distal spinal muscular atrophy 1 | |
| | | Insertion (intron variant) | Autosomal recessive distal spinal muscular atrophy 1 | |
Click to view in NCBI Gene