| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DYSF, LOC122787137 (S1296* +7 more) | Single nucleotide variant (nonsense) | not provided | |
| | DYSF, LOC122787137 (I1298V +7 more) | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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