| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Ullrich congenital muscular dystrophy 1A +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myosclerosis | |
| | | Single nucleotide variant (intron variant) | Collagen 6-related myopathy +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene