| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more | |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of beta-sarcoglycan +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | not provided +2 more | |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2E | GConflicting classifications of pathogenicity |
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