| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC129992585, SGCB (E10fs) | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC129992585, SGCB (Q12fs) | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Qualitative or quantitative defects of beta-sarcoglycan +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of beta-sarcoglycan +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more | |
| | | Microsatellite (inframe_insertion) | not provided +1 more | |
| | | Microsatellite (inframe_insertion) | not provided +2 more | |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Qualitative or quantitative defects of beta-sarcoglycan +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Deletion (5 prime UTR variant) | not specified | |