| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Myopathy, distal, 6, adult-onset, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Myopathy, distal, 6, adult-onset, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Myopathy, congenital, with structured cores and z-line abnormalities | GPathogenic/Likely pathogenic |
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