* Phenotype mapping Key
1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype
| Gene Symbol | Chromosomal Location | Gene MIM number | Mapping Method | Phenotype | Phenotype MIM number | Phenotype Mapping Key |
| RYR1 | 19q13.2 | 180901 | A, Fd, H | {Malignant hyperthermia susceptibility 1}, 145600 (3) | 145600 | 3 |
| RYR1 | 19q13.2 | 180901 | A, Fd, H | Central core disease, 117000 (3) | 117000 | 3 |
| RYR1 | 19q13.2 | 180901 | A, Fd, H | Minicore myopathy with external ophthalmoplegia, 255320 (3) | 255320 | 3 |
| RYR1 | 19q13.2 | 180901 | A, Fd, H | Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3) | 117000 | 3 |
| RYR1 | 19q13.2 | 180901 | A, Fd, H | King-Denborough syndrome, 145600 (3) | 145600 | 3 |