| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Deletion (frameshift variant) | Myopathy | |
| | | Single nucleotide variant (intron variant) | Bethlem myopathy 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Deletion (frameshift variant) | Myopathy +1 more | |
| | | Single nucleotide variant (intron variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (synonymous variant) | Myopathy | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa simplex, Ogna type +5 more | |
| | | Single nucleotide variant (intron variant) | Myopathy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +5 more | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 | |
| | | Deletion (frameshift variant) | Myopathy | |
| | | Duplication (frameshift variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | UNC45B-related condition | |
| | | Deletion | Abnormality of metabolism/homeostasis +3 more | |
| | | Single nucleotide variant (missense variant) | Rhabdomyolysis +7 more | |
| | | Single nucleotide variant (nonsense) | Myopathy +1 more | |
| | | Single nucleotide variant (nonsense) | Myopathy | |
| | | Deletion (intron variant) | Glycogen storage disease, type V | |
| | | Single nucleotide variant (synonymous variant) | Gnathodiaphyseal dysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | RYR1-Related Disorders | |
| | | Duplication (splice acceptor variant) | Gnathodiaphyseal dysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Copy number gain | Myopathy | |
| | | Copy number gain | Myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy +14 more | |
| | | Duplication (frameshift variant +1 more) | Dilated cardiomyopathy 1G +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Myopathy +2 more | |
| | | Single nucleotide variant (intron variant) | Muscle weakness +2 more | |
| | | Copy number loss | Attention deficit hyperactivity disorder +3 more | |
| | | Single nucleotide variant (nonsense) | Myopathy +1 more | GConflicting classifications of pathogenicity |
| | | | Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital muscular dystrophy +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy +2 more | |
| | | Single nucleotide variant (missense variant) | Very long chain acyl-CoA dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant) | Cardiomyopathy +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cryohydrocytosis with reduced stomatin +13 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (nonsense) | Myopathy | |
| | | Duplication (splice donor variant) | Gnathodiaphyseal dysplasia +1 more | |
| | TTN, TTN-AS1 (W24856* +5 more) | Single nucleotide variant (nonsense) | Myopathy | |
| | | Deletion (frameshift variant +1 more) | Dilated cardiomyopathy 3B +9 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | LOC126862902, RYR1 (W2821*) | Single nucleotide variant (nonsense) | RYR1-related condition +1 more | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | |
| | | Single nucleotide variant (missense variant) | Gnathodiaphyseal dysplasia +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive limb-girdle muscular dystrophy type 2I | |
| | | Microsatellite (frameshift variant) | Dilated cardiomyopathy 1G +4 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant +1 more) | Myopathy | |
| | | Single nucleotide variant (missense variant +1 more) | Myopathy | |
| | | Single nucleotide variant (nonsense) | Myopathy | |
| | | Single nucleotide variant (splice donor variant) | RYR1-Related Disorders +1 more | |
| | | Duplication (inframe_insertion) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Deletion (frameshift variant) | RYR1-Related Disorders +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Myopathy +1 more | |
| | LOC126861897, MHRT +1 more (L1629P) | Single nucleotide variant (non-coding transcript variant +1 more) | Myopathy | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Myopathy | |
| | | Single nucleotide variant (missense variant) | Bethlem myopathy 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Myopathy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Myopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Very long chain acyl-CoA dehydrogenase deficiency | |
| | TTN, TTN-AS1 (Q34238* +5 more) | Single nucleotide variant (nonsense) | TTN-related myopathy +13 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | TTN-Related Disorders +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (S21967Y +5 more) | Single nucleotide variant (missense variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | TTN, TTN-AS1 (K28700T +5 more) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +9 more | GConflicting classifications of pathogenicity |
| | LOC126861898, MYH7 (R858C) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | TTN, TTN-AS1 (R27300H +5 more) | Single nucleotide variant (missense variant) | Cardiomyopathy +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Respiratory insufficiency due to muscle weakness +20 more | |
| | | Single nucleotide variant (missense variant +3 more) | Mitochondrial DNA depletion syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | BETHLEM MYOPATHY 1B, AUTOSOMAL RECESSIVE | |
| | | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2A +24 more | |
| | | Single nucleotide variant (nonsense +1 more) | Myopathy +8 more | GPathogenic/Likely pathogenic |
| | | Duplication | Myopathy | |
| | | Single nucleotide variant | Mitochondrial disease | |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Fetal akinesia deformation sequence 2 +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Sarcotubular myopathy +4 more | |
| | | Single nucleotide variant (missense variant) | DNM2-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | FKRP-related condition +19 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | GAA-related condition +7 more | |
| | | Duplication (frameshift variant) | ANO5-related muscular dystrophy +13 more | GPathogenic/Likely pathogenic |