| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of beta-sarcoglycan +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene