| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Dystonia 27 +2 more | |
| | | Single nucleotide variant (missense variant) | Ullrich congenital muscular dystrophy 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Ullrich congenital muscular dystrophy 1A +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1A | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bethlem myopathy 1A | |
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