| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2F | |
| | | Deletion (inframe_deletion +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2F +3 more | |
Click to view in NCBI Gene