| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2A | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | CAPN3-related condition +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene