| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Absent muscle fiber dysferlin +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive distal muscle weakness +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Clubfoot +7 more | |
| | | Copy number loss | Steppage gait +3 more | |
| | AIFM1, RAB33A (M340T +2 more) | Single nucleotide variant (missense variant +3 more) | not provided +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene