| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Spastic ataxia 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more | GPathogenic/Likely pathogenic |
| | | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | CAPN3, LOC126862115 (G127E +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion (inframe_deletion +2 more) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Qualitative or quantitative defects of dysferlin +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2L +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 +5 more | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Duplication | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy +3 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +2 more | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +4 more | |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Abnormality of the musculature +2 more | |
| | POMGNT1, TSPAN1 (R462S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome +3 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (R299H +2 more) | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more | |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Qualitative or quantitative defects of dysferlin +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +1 more | GConflicting classifications of pathogenicity |
| | CAPN3, LOC130056921 (E467del +1 more) | Microsatellite (inframe_deletion) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more | |
| | POMGNT1, TSPAN1 (G505S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2O +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2E +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Distal myopathy with anterior tibial onset +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Walker-Warburg congenital muscular dystrophy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Miyoshi muscular dystrophy 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | CAPN3, LOC130056921 (R461C +1 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | | Miyoshi muscular dystrophy 1 +2 more | |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Limb-girdle muscular dystrophy, recessive +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2D +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | CAPN3-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Miyoshi muscular dystrophy 3 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Miyoshi muscular dystrophy 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +4 more | GConflicting classifications of pathogenicity |