| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Microsatellite (inframe_insertion) | Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more | |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2E | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene