| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Muscle weakness +3 more | |
| | | Deletion (frameshift variant) | Absent muscle fiber dysferlin +3 more | |
| | | Single nucleotide variant (missense variant) | Miyoshi muscular dystrophy 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal myopathy with anterior tibial onset +1 more | |
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