| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (splice donor variant) | Bethlem myopathy 1A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Myosclerosis +2 more | |
| | | Deletion (inframe deletion) | Myosclerosis | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Deletion (inframe_deletion) | Ullrich congenital muscular dystrophy 1A +3 more | |
| | | Single nucleotide variant (missense variant) | Collagen 6-related myopathy +3 more | GConflicting classifications of pathogenicity |
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