| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Qualitative or quantitative defects of dysferlin +2 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
Click to view in NCBI Gene