| | | | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 +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 (initiator_codon_variant +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 +1 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 | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Deletion | Autosomal recessive limb-girdle muscular dystrophy | |
| | | | Gnathodiaphyseal dysplasia +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 (intron variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +4 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 +1 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Autosomal recessive limb-girdle muscular dystrophy type 2K +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) | Autosomal recessive limb-girdle muscular dystrophy +4 more | |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +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) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy +1 more | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2I +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | CAPN3, LOC130056921 (E467del +1 more) | Microsatellite (inframe_deletion) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more | GPathogenic/Likely pathogenic |
| | POMGNT1, TSPAN1 (G505S +2 more) | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +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 (nonsense) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Distal myopathy with anterior tibial onset +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) | not provided +4 more | GPathogenic/Likely pathogenic |
| | CAPN3, LOC130056921 (R461C +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense 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 |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +2 more | GConflicting classifications of pathogenicity |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2N | |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2B +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 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more | |
| | | Single nucleotide variant (intron variant +1 more) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +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) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 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 type 2A +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2C +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Autosomal recessive limb-girdle muscular dystrophy +2 more | |
| | | Single nucleotide variant (synonymous variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 +6 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy-dystroglycanopathy type B5 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy, limb-girdle, autosomal dominant 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | DYSF-related condition +5 more | GConflicting classifications of pathogenicity |