| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | X-linked distal spinal muscular atrophy type 3 +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked distal spinal muscular atrophy type 3 | |
Click to view in NCBI Gene