| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Scapular winging | |
| | | Single nucleotide variant (synonymous variant) | Scapular winging | |
| | | Single nucleotide variant (synonymous variant) | Facioscapulohumeral muscular dystrophy 2 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy +20 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene