| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Central core myopathy +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | RYR1-related myopathy | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuromuscular disease, congenital, with uniform type 1 fiber +4 more | |
| | | Deletion (5 prime UTR variant) | not provided | |
| | | Duplication (5 prime UTR variant) | Neuromuscular disease, congenital, with uniform type 1 fiber +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuromuscular disease, congenital, with uniform type 1 fiber +5 more | |
| | | Duplication (5 prime UTR variant) | Neuromuscular disease, congenital, with uniform type 1 fiber +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Malignant hyperthermia, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Neuromuscular disease, congenital, with uniform type 1 fiber +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Central core myopathy +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Central core myopathy +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Congenital multicore myopathy with external ophthalmoplegia +1 more | |
| | | Duplication | RYR1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Duplication (inframe_insertion) | RYR1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Single nucleotide variant (splice donor variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Deletion (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder +6 more | |
| | | Single nucleotide variant (intron variant) | RYR1-related disorder | |
| | | Single nucleotide variant (intron variant) | Malignant hyperthermia, susceptibility to, 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Malignant hyperthermia, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Malignant hyperthermia, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +5 more | |
| | | Deletion (inframe_deletion) | Malignant hyperthermia of anesthesia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Deletion (frameshift variant) | RYR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Malignant hyperthermia, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Single nucleotide variant (missense variant) | Central core myopathy +6 more | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +7 more | |
| | | Single nucleotide variant (synonymous variant) | Malignant hyperthermia, susceptibility to, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +6 more | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | RYR1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (synonymous variant) | RYR1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Malignant hyperthermia, susceptibility to, 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |