| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 1A +2 more | |
| | | Deletion (splice acceptor variant) | Abnormality of the musculature | |
| | | Duplication (frameshift variant) | Abnormality of the musculature | |
| | | Single nucleotide variant (intron variant) | Collagen 6-related myopathy +10 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | Congenital muscular dystrophy | |
Click to view in NCBI Gene