| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Duchenne muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Duchenne muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
Click to view in NCBI Gene