| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ullrich congenital muscular dystrophy 1A | |
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