| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129992585, SGCB (E10fs) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2E +3 more | GPathogenic/Likely pathogenic |
| | LOC129992585, SGCB (E10fs) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2E | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2E | |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2E | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2E | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Qualitative or quantitative defects of beta-sarcoglycan +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene