| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Qualitative or quantitative defects of dysferlin | |
| | DYSF, LOC122787137 (I1298V +7 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy | |
Click to view in NCBI Gene