| | | Single nucleotide variant (nonsense) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive limb-girdle muscular dystrophy type 2D | |
| | | Single nucleotide variant (splice acceptor variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (splice donor variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Elevated circulating creatine kinase concentration | |
| | | Deletion (frameshift variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +5 more | |
| | | Microsatellite (frameshift variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (splice acceptor variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +1 more | |
| | | Indel | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 1 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypertrophic cardiomyopathy 1 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypertrophic cardiomyopathy 1 +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypertrophic cardiomyopathy 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant) | Duchenne muscular dystrophy | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Long QT syndrome +6 more | |
| | | Inversion | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +11 more | |
| | | Single nucleotide variant (missense variant) | Dystonic disorder +10 more | |
| | | Single nucleotide variant (nonsense) | Glycogen storage disease, type II | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive limb-girdle muscular dystrophy type 2T | |
| | | Single nucleotide variant (missense variant) | Elevated circulating creatine kinase concentration +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Elevated circulating creatine kinase concentration +2 more | |
| | | Duplication (frameshift variant +1 more) | Elevated circulating creatine kinase concentration +1 more | |
| | | Microsatellite (inframe_deletion) | Elevated circulating creatine kinase concentration +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Congenital myopathy with fiber type disproportion +7 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Lower limb muscle weakness +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +5 more | |
| | | Single nucleotide variant (splice acceptor variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (intron variant) | Dystrophinopathy +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2G +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Elevated circulating creatine kinase concentration | |
| | | Deletion (frameshift variant) | Elevated circulating creatine kinase concentration | |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Congenital multicore myopathy with external ophthalmoplegia +11 more | |
| | | Single nucleotide variant (nonsense) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (3 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Dominant +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Limb-Girdle Muscular Dystrophy, Dominant +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Caveolinopathy +7 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Caveolinopathy +7 more | |
| | | Single nucleotide variant (missense variant) | Elevated circulating creatine kinase concentration | |
| | | Single nucleotide variant (missense variant) | Elevated circulating creatine kinase concentration | |
| | | Microsatellite (frameshift variant +1 more) | Elevated circulating creatine kinase concentration | |
| | | Deletion (frameshift variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Myopathy +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +8 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +8 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Elevated circulating creatine kinase concentration +2 more | |
| | | Deletion (inframe_deletion +1 more) | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +8 more | |
| | | Single nucleotide variant (nonsense) | Exercise-induced myalgia +5 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hypertrophic cardiomyopathy 1 +10 more | |
| | | Single nucleotide variant (splice donor variant) | Elevated circulating creatine kinase concentration +5 more | |
| | | Deletion (frameshift variant) | not provided +24 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Long QT syndrome 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +13 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2K +11 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Myopathy +13 more | GPathogenic/Likely pathogenic |