| | | Duplication (splice donor variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Microsatellite (inframe_deletion) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Deletion (nonsense) | Miyoshi muscular dystrophy 1 +1 more | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (intron variant) | Miyoshi muscular dystrophy 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (nonsense) | Miyoshi muscular dystrophy 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Copy number loss | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Copy number loss | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +1 more | |
| | | Insertion (frameshift variant) | Miyoshi muscular dystrophy 1 +2 more | |
| | | Indel (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Microsatellite (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Indel (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Insertion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Indel (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Indel (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Miyoshi muscular dystrophy 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Distal myopathy with anterior tibial onset +2 more | |
| | | Indel (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Deletion (frameshift variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (nonsense) | Miyoshi muscular dystrophy 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B +2 more | |
| | | Duplication (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (nonsense) | Qualitative or quantitative defects of dysferlin | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Indel (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more | |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +3 more | |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +1 more | |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +1 more | |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +1 more | |
| | | Single nucleotide variant (missense variant) | Distal myopathy with anterior tibial onset +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Qualitative or quantitative defects of dysferlin +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2B +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Miyoshi muscular dystrophy 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Distal myopathy with anterior tibial onset +2 more | |
| | | Single nucleotide variant (missense variant) | Qualitative or quantitative defects of dysferlin +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Miyoshi muscular dystrophy 1 +2 more | |