| | TTN, TTN-AS1 (I24959del +5 more) | Deletion (inframe deletion) | Muscular dystrophy | |
| | | Duplication (splice acceptor variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy | |
| | | Deletion (frameshift variant) | Duchenne muscular dystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | Muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy | |
| | | Deletion (frameshift variant +1 more) | Muscular dystrophy | |
| | DYSF, LOC122787137 (Q1279* +7 more) | Single nucleotide variant (nonsense) | Qualitative or quantitative defects of dysferlin | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy | |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy +1 more | |
| | | Deletion (splice donor variant) | Eichsfeld type congenital muscular dystrophy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy | |
| | | Single nucleotide variant (splice donor variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Muscular dystrophy +4 more | |
| | | Deletion | Muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy | |
| | | Single nucleotide variant (synonymous variant) | Qualitative or quantitative defects of dysferlin +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Muscular dystrophy | |
| | | Deletion (inframe_deletion) | Muscular dystrophy | |
| | | Deletion (inframe_deletion) | Charcot-Marie-Tooth disease type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_indel) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | | Progressive myoclonic epilepsy type 6 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (E25514fs +5 more) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2J +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Bethlem myopathy 1 +6 more | GPathogenic/Likely pathogenic |
| | NEB, RIF1 (R8032* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Muscular dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | COL6A3-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +8 more | |
| | | Translocation | Abnormality of mouth shape +18 more | |
| | TTN, TTN-AS1 (S11772fs +5 more) | Duplication (frameshift variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Deletion | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +4 more | |
| | POMT2, LOC130056175 (W226fs) | Deletion (frameshift variant) | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 +3 more | |
| | | Indel (splice acceptor variant) | Muscular dystrophy | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (Q34238* +5 more) | Single nucleotide variant (nonsense) | TTN-related myopathy +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | DYSF-related condition +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant +1 more) | Muscular dystrophy +4 more | GConflicting classifications of pathogenicity |
| | GOSR2, LRRC37A2 (G144W +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy +2 more | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +24 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Muscular dystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | PMM2-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | SEPN1-Related Disorders +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | POMT2-related condition +6 more | GPathogenic/Likely pathogenic |