This page details the annotation of RYR2 with disease causing variants in the following paralogues: RYR1, RYR3. Click here to see the multiple sequence alignment of RYR2 with all paralogues.
The paralogue variant mappings to RYR2 are based on the Locus Reference Genomic entry for RYR2 - LRG_402. This is based on the transcript ENST00000366574 and protein ENSP00000355533 (4967 amino acids) for the Ensembl gene ENSG00000198626.
Amino acid residues of RYR2 with known missense variants are shown below, along with details about the RYR2 protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), and any disease-causing paralogue missense variants that have been mapped to the residue, including the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known RYR2 variants and the mapped paralogue variants.
| Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
|---|---|---|---|---|
| 3-D | Cytoplasmic region | Prob. Benign (0) | ||
| 7-G | Cytoplasmic region | Prob. Benign (0) | ||
| 11-I | Cytoplasmic region | None | ||
| 13-F | Cytoplasmic region | None | ||
| 14-L | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia, Myopathy, congenital with cores |
| 17-D | Cytoplasmic region | Prob. Benign (0) | ||
| 26-A | Cytoplasmic region | Prob. Benign (0) | ||
| 29-H | Cytoplasmic region | Arrhythmia (2) | ||
| 34-K | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 38-A | Cytoplasmic region | Prob. Benign (0) | ||
| 40-E | Cytoplasmic region | Prob. Benign (0) | ||
| 46-L | Cytoplasmic region | Prob. Benign (0) | ||
| 48-F | Cytoplasmic region | Prob. Benign (0) | ||
| 49-L | Cytoplasmic region | None | ||
| 60-P | Cytoplasmic region | Prob. Benign (0) | ||
| 62-L | Cytoplasmic region | Arrhythmia (3) | ||
| 66-T | Cytoplasmic region | Prob. Benign (0) | ||
| 68-V | Cytoplasmic region | Prob. Benign (0) | ||
| 73-L | Cytoplasmic region | Other Cardiac (1) | ||
| 76-R | Cytoplasmic region | Prob. Benign (0) | ||
| 77-A | Cytoplasmic region | None | ||
| 79-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 80-E | Cytoplasmic region | None | ||
| 81-M | Cytoplasmic region | Arrhythmia (2) | ||
| 85-T | Cytoplasmic region | Prob. Benign (0) | ||
| 91-G | Cytoplasmic region | Prob. Benign (0) | ||
| 94-D | Cytoplasmic region | None | ||
| 101-M | Cytoplasmic region | Prob. Benign (0) | ||
| 103-K | Cytoplasmic region | None | ||
| 114-L | Cytoplasmic region | Prob. Benign (0) | ||
| 118-A | Cytoplasmic region | Prob. Benign (0) | ||
| 122-R | Cytoplasmic region | None | 9 | RYR1 - Multi-minicore disease |
| 126-S | Cytoplasmic region | None | ||
| 128-M | Cytoplasmic region | None | ||
| 134-S | Cytoplasmic region | Prob. Benign (0) | ||
| 137-R | Cytoplasmic region | Prob. Benign (0) | ||
| 138-S | Cytoplasmic region | Prob. Benign (0) | ||
| 152-D | Cytoplasmic region | None | ||
| 153-T | Cytoplasmic region | Prob. Benign (0) | ||
| 154-T | Cytoplasmic region | Prob. Benign (0) | ||
| 157-A | Cytoplasmic region | Prob. Benign (0) | ||
| 164-P | Cytoplasmic region | Arrhythmia (4) | ||
| 165-A | Cytoplasmic region | Arrhythmia (1) | ||
| 166-S | Cytoplasmic region | Arrhythmia (1) | ||
| 167-K | Cytoplasmic region | None | ||
| 169-R | Cytoplasmic region | Arrhythmia (6) | 9 | RYR1 - Central core disease, Malignant hyperthermia |
| 176-R | Cytoplasmic region | None | 9 | RYR1 - Central core disease, Malignant hyperthermia ? |
| 178-G | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 179-D | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 185-S | Cytoplasmic region | Prob. Benign (0) | ||
| 186-V | Cytoplasmic region | Arrhythmia (6) | ||
| 189-E | Cytoplasmic region | Arrhythmia (4) | ||
| 190-R | Cytoplasmic region | None | 6 | RYR1 - Malignant hyperthermia |
| 199-G | Cytoplasmic region | Prob. Benign (0) | ||
| 208-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 209-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 210-T | Cytoplasmic region | Prob. Benign (0) | ||
| 217-I | Cytoplasmic region | Arrhythmia (4) | ||
| 220-G | Cytoplasmic region | None | ||
| 229-I | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Malignant hyperthermia |
| 230-G | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 235-R | Cytoplasmic region | None | ||
| 240-H | Cytoplasmic region | Arrhythmia (3) | ||
| 241-M | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 242-D | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 243-E | Cytoplasmic region | Arrhythmia (2) | ||
| 246-T | Cytoplasmic region | Prob. Benign (0) | ||
| 248-P | Cytoplasmic region | Prob. Benign (0) | ||
| 250-G | Cytoplasmic region | Prob. Benign (0) | ||
| 257-R | Cytoplasmic region | Prob. Benign (0) | ||
| 259-T | Cytoplasmic region | Prob. Benign (0) | ||
| 263-E | Cytoplasmic region | Prob. Benign (0) | ||
| 264-G | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 266-A | Cytoplasmic region | Prob. Benign (0) | ||
| 267-V | Cytoplasmic region | Prob. Benign (0) | ||
| 270-H | Cytoplasmic region | Prob. Benign (0) | ||
| 271-A | Cytoplasmic region | None | ||
| 272-R | Cytoplasmic region | Prob. Benign (0) | ||
| 273-S | Cytoplasmic region | None | ||
| 279-T | Cytoplasmic region | Prob. Benign (0) | ||
| 280-L | Cytoplasmic region | None | ||
| 289-I | Cytoplasmic region | Prob. Benign (0) | ||
| 291-W | Cytoplasmic region | Prob. Benign (0) | ||
| 293-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 294-P | Cytoplasmic region | Prob. Benign (0) | ||
| 295-F | Cytoplasmic region | Prob. Benign (0) | ||
| 298-R | Cytoplasmic region | Prob. Benign (0) | ||
| 299-H | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Ophthalmoplegia and malignant hyperthermia |
| 309-M | Cytoplasmic region | Prob. Benign (0) | ||
| 317-M | Cytoplasmic region | Prob. Benign (0) | ||
| 318-D | Cytoplasmic region | Prob. Benign (0) | ||
| 321-K | Cytoplasmic region | None | ||
| 328-A | Cytoplasmic region | Prob. Benign (0) | ||
| 329-F | Cytoplasmic region | Arrhythmia (3) | ||
| 332-R | Cytoplasmic region | Arrhythmia (3) | 8 | RYR1 - Malignant hyperthermia |
| 333-S | Cytoplasmic region | Prob. Benign (0) | ||
| 341-G | Cytoplasmic region | Prob. Benign (0) | ||
| 342-V | Cytoplasmic region | Prob. Benign (0) | ||
| 348-G | Cytoplasmic region | Prob. Benign (0) | ||
| 355-K | Cytoplasmic region | Prob. Benign (0) | ||
| 356-Y | Cytoplasmic region | None | ||
| 357-G | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Malignant hyperthermia |
| 360-V | Cytoplasmic region | Prob. Benign (0) | ||
| 361-C | Cytoplasmic region | None | ||
| 364-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 372-L | Cytoplasmic region | Prob. Benign (0) | ||
| 377-V | Cytoplasmic region | Benign (1) | ||
| 378-D | Cytoplasmic region | Prob. Benign (0) | ||
| 379-V | Cytoplasmic region | Prob. Benign (0) | ||
| 382-V | Cytoplasmic region | Prob. Benign (0) | ||
| 385-G | Cytoplasmic region | Prob. Benign (0) | ||
| 387-I | Cytoplasmic region | Prob. Benign (0) | ||
| 388-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 389-R | Cytoplasmic region | Prob. Benign (0) | ||
| 391-A | Cytoplasmic region | Prob. Benign (0) | ||
| 392-I | Cytoplasmic region | Prob. Benign (0) | ||
| 393-M | Cytoplasmic region | Prob. Benign (0) | ||
| 395-H | Cytoplasmic region | Prob. Benign (0) | ||
| 399-M | Cytoplasmic region | None | ||
| 400-D | Cytoplasmic region | Arrhythmia (2) | ||
| 403-I | Cytoplasmic region | Prob. Benign (0) | ||
| 406-S | Cytoplasmic region | Arrhythmia (3) | ||
| 407-R | Cytoplasmic region | Arrhythmia (3) | ||
| 413-S | Cytoplasmic region | Arrhythmia (2) | ||
| 414-R | Cytoplasmic region | Arrhythmia (6) | ||
| 415-T | Cytoplasmic region | Arrhythmia (6) | ||
| 417-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 419-I | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Central core disease |
| 420-R | Cytoplasmic region | Arrhythmia (13) | ||
| 424-F | Cytoplasmic region | Prob. Benign (0) | ||
| 428-R | Cytoplasmic region | Prob. Benign (0) | ||
| 433-L | Cytoplasmic region | None | 5 | RYR1 - Myopathy, congenital |
| 435-A | Cytoplasmic region | Prob. Benign (0) | ||
| 440-A | Cytoplasmic region | Prob. Benign (0) | ||
| 442-A | Cytoplasmic region | Prob. Benign (0) | ||
| 446-D | Cytoplasmic region | Prob. Benign (0) | ||
| 448-P | Cytoplasmic region | Prob. Benign (0) | ||
| 449-I | Cytoplasmic region | Prob. Benign (0) | ||
| 452-V | Cytoplasmic region | Prob. Benign (0) | ||
| 453-S | Cytoplasmic region | Prob. Benign (0) | ||
| 457-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 460-I | Cytoplasmic region | Prob. Benign (0) | ||
| 461-G | Cytoplasmic region | Prob. Benign (0) | ||
| 464-H | Cytoplasmic region | Prob. Benign (0) | ||
| 466-P | Cytoplasmic region | Arrhythmia (4) | ||
| 467-D | Cytoplasmic region | Prob. Benign (0) | ||
| 469-H | Cytoplasmic region | Prob. Benign (0) | ||
| 475-K | Cytoplasmic region | Prob. Benign (0) | ||
| 485-R | Cytoplasmic region | None | ||
| 498-V | Cytoplasmic region | Prob. Benign (0) | ||
| 499-L | Cytoplasmic region | Prob. Benign (0) | ||
| 500-E | Cytoplasmic region | Prob. Benign (0) | ||
| 502-I | Cytoplasmic region | Prob. Benign (0) | ||
| 503-D | Cytoplasmic region | Prob. Benign (0) | ||
| 504-R | Cytoplasmic region | Prob. Benign (1) | 9 | RYR1 - Exertional heat illness |
| 507-V | Cytoplasmic region | Benign (1) | ||
| 512-A | Cytoplasmic region | Prob. Benign (0) | ||
| 520-R | Cytoplasmic region | Prob. Benign (1) | ||
| 521-E | Cytoplasmic region | Prob. Benign (0) | ||
| 524-E | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Central core disease |
| 527-K | Cytoplasmic region | Prob. Benign (0) | ||
| 529-I | Cytoplasmic region | Prob. Benign (0) | ||
| 534-Y | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 535-E | Cytoplasmic region | None | ||
| 539-A | Cytoplasmic region | Prob. Benign (0) | ||
| 547-N | Cytoplasmic region | Other Cardiac (1) | ||
| 549-A | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Myopathy, congenital |
| 555-L | Cytoplasmic region | Other Cardiac (1) | ||
| 559-I | Cytoplasmic region | Prob. Benign (0) | ||
| 560-S | Cytoplasmic region | Prob. Benign (0) | ||
| 565-L | Cytoplasmic region | Prob. Benign (0) | ||
| 567-A | Cytoplasmic region | Prob. Benign (0) | ||
| 571-I | Cytoplasmic region | None | ||
| 576-H | Cytoplasmic region | None | ||
| 592-G | Cytoplasmic region | None | ||
| 597-I | Cytoplasmic region | Prob. Benign (0) | ||
| 608-H | Cytoplasmic region | Prob. Benign (0) | ||
| 611-L | Cytoplasmic region | None | ||
| 613-V | Cytoplasmic region | Prob. Benign (0) | ||
| 615-C | Cytoplasmic region | Prob. Benign (0) | ||
| 616-S | Cytoplasmic region | Arrhythmia (2) | ||
| 617-L | Cytoplasmic region | Prob. Benign (0) | ||
| 622-G | Cytoplasmic region | Prob. Benign (0) | ||
| 624-A | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 626-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 634-D | Cytoplasmic region | Prob. Benign (0) | ||
| 640-R | Cytoplasmic region | None | ||
| 643-L | Cytoplasmic region | Prob. Benign (0) | ||
| 646-T | Cytoplasmic region | Prob. Benign (0) | ||
| 647-R | Cytoplasmic region | Benign (0) | ||
| 651-H | Cytoplasmic region | Prob. Benign (0) | ||
| 658-N | Cytoplasmic region | Prob. Benign (0) | ||
| 659-I | Cytoplasmic region | Prob. Benign (1) | ||
| 663-V | Cytoplasmic region | Prob. Benign (0) | ||
| 664-S | Cytoplasmic region | Prob. Benign (0) | ||
| 669-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 670-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 675-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 677-L | Cytoplasmic region | Prob. Benign (0) | ||
| 680-D | Cytoplasmic region | Prob. Benign (0) | ||
| 682-T | Cytoplasmic region | Prob. Benign (0) | ||
| 683-E | Cytoplasmic region | Prob. Benign (0) | ||
| 684-P | Cytoplasmic region | None | ||
| 694-R | Cytoplasmic region | Benign (0) | ||
| 701-E | Cytoplasmic region | Prob. Benign (0) | ||
| 702-G | Cytoplasmic region | Prob. Benign (1) | ||
| 708-G | Cytoplasmic region | Prob. Benign (0) | ||
| 709-G | Cytoplasmic region | Prob. Benign (0) | ||
| 713-W | Cytoplasmic region | None | ||
| 721-D | Cytoplasmic region | Prob. Benign (0) | ||
| 725-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 730-L | Cytoplasmic region | Prob. Benign (0) | ||
| 738-A | Cytoplasmic region | Prob. Benign (0) | ||
| 739-R | Cytoplasmic region | Arrhythmia (2) | ||
| 740-T | Cytoplasmic region | Prob. Benign (0) | ||
| 741-V | Cytoplasmic region | Prob. Benign (0) | ||
| 742-S | Cytoplasmic region | Prob. Benign (0) | ||
| 746-Q | Cytoplasmic region | None | ||
| 748-L | Cytoplasmic region | Prob. Benign (0) | ||
| 751-T | Cytoplasmic region | None | ||
| 754-V | Cytoplasmic region | Prob. Benign (0) | ||
| 756-S | Cytoplasmic region | Prob. Benign (1) | ||
| 758-C | Cytoplasmic region | Prob. Benign (0) | ||
| 759-L | Cytoplasmic region | Prob. Benign (0) | ||
| 765-S | Cytoplasmic region | Prob. Benign (0) | ||
| 767-S | Cytoplasmic region | Prob. Benign (0) | ||
| 768-F | Cytoplasmic region | Prob. Benign (0) | ||
| 769-R | Cytoplasmic region | Prob. Benign (1) | ||
| 774-P | Cytoplasmic region | Prob. Benign (0) | ||
| 775-V | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Muscular dystrophy |
| 778-M | Cytoplasmic region | Prob. Benign (1) | ||
| 781-N | Cytoplasmic region | None | ||
| 783-N | Cytoplasmic region | Prob. Benign (0) | ||
| 784-I | Cytoplasmic region | None | ||
| 785-D | Cytoplasmic region | Prob. Benign (0) | ||
| 786-G | Cytoplasmic region | Prob. Benign (0) | ||
| 788-F | Cytoplasmic region | Prob. Benign (0) | ||
| 792-V | Cytoplasmic region | Prob. Benign (0) | ||
| 797-G | Cytoplasmic region | Prob. Benign (0) | ||
| 798-I | Cytoplasmic region | Prob. Benign (0) | ||
| 800-V | Cytoplasmic region | None | ||
| 801-R | Cytoplasmic region | Prob. Benign (1) | 9 | RYR1 - Myopathy, congenital |
| 804-L | Cytoplasmic region | Prob. Benign (0) | ||
| 806-G | Cytoplasmic region | Prob. Benign (0) | ||
| 807-R | Cytoplasmic region | Prob. Benign (0) | ||
| 808-H | Cytoplasmic region | Prob. Benign (0) | ||
| 812-K | Cytoplasmic region | Prob. Benign (0) | ||
| 813-F | Cytoplasmic region | Prob. Benign (0) | ||
| 815-P | Cytoplasmic region | Prob. Benign (0) | ||
| 817-P | Cytoplasmic region | Prob. Benign (0) | ||
| 820-A | Cytoplasmic region | Prob. Benign (0) | ||
| 822-C | Cytoplasmic region | Prob. Benign (0) | ||
| 828-P | Cytoplasmic region | Prob. Benign (0) | ||
| 832-L | Cytoplasmic region | Prob. Benign (0) | ||
| 836-H | Cytoplasmic region | Prob. Benign (0) | ||
| 837-S | Cytoplasmic region | Prob. Benign (0) | ||
| 838-R | Cytoplasmic region | Prob. Benign (0) | ||
| 841-K | Cytoplasmic region | Prob. Benign (0) | ||
| 847-T | Cytoplasmic region | None | ||
| 848-R | Cytoplasmic region | Prob. Benign (0) | ||
| 849-D | Cytoplasmic region | Prob. Benign (0) | ||
| 853-P | Cytoplasmic region | Prob. Benign (0) | ||
| 856-S | Cytoplasmic region | Prob. Benign (0) | ||
| 857-L | Cytoplasmic region | Prob. Benign (0) | ||
| 858-T | Cytoplasmic region | Prob. Benign (0) | ||
| 863-T | Cytoplasmic region | None | ||
| 867-V | Cytoplasmic region | Prob. Benign (0) | ||
| 872-I | Cytoplasmic region | Prob. Benign (0) | ||
| 873-V | Cytoplasmic region | Prob. Benign (0) | ||
| 876-P | Cytoplasmic region | Prob. Benign (0) | ||
| 877-H | Cytoplasmic region | Prob. Benign (0) | ||
| 879-E | Cytoplasmic region | Prob. Benign (0) | ||
| 881-I | Cytoplasmic region | Prob. Benign (0) | ||
| 882-R | Cytoplasmic region | Prob. Benign (0) | ||
| 884-K | Cytoplasmic region | Prob. Benign (0) | ||
| 886-A | Cytoplasmic region | Prob. Benign (0) | ||
| 887-E | Cytoplasmic region | Prob. Benign (0) | ||
| 889-I | Cytoplasmic region | Prob. Benign (0) | ||
| 900-L | Cytoplasmic region | Prob. Benign (0) | ||
| 901-G | Cytoplasmic region | Other Disease (1) | ||
| 904-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 906-P | Cytoplasmic region | Prob. Benign (1) | ||
| 919-V | Cytoplasmic region | Benign (0) | ||
| 921-F | Cytoplasmic region | Prob. Benign (0) | ||
| 929-R | Cytoplasmic region | None | ||
| 935-M | Cytoplasmic region | None | ||
| 943-L | Cytoplasmic region | Prob. Benign (1) | ||
| 945-A | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia & exertional rhabdomyolosis |
| 950-V | Cytoplasmic region | None | ||
| 951-G | Cytoplasmic region | Prob. Benign (0) | ||
| 953-S | Cytoplasmic region | Prob. Benign (0) | ||
| 954-D | Cytoplasmic region | Prob. Benign (0) | ||
| 955-E | Cytoplasmic region | Prob. Benign (0) | ||
| 961-V | Cytoplasmic region | None | ||
| 970-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 973-T | Cytoplasmic region | Prob. Benign (0) | ||
| 978-P | Cytoplasmic region | Prob. Benign (0) | ||
| 979-A | Cytoplasmic region | Prob. Benign (1) | ||
| 981-M | Cytoplasmic region | Prob. Benign (0) | ||
| 984-S | Cytoplasmic region | Prob. Benign (0) | ||
| 991-S | Cytoplasmic region | Prob. Benign (0) | ||
| 993-E | Cytoplasmic region | Prob. Benign (0) | ||
| 998-K | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 1000-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1004-H | Cytoplasmic region | Prob. Benign (0) | ||
| 1005-N | Cytoplasmic region | Prob. Benign (0) | ||
| 1006-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1009-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1010-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1013-R | Cytoplasmic region | Conflict (8) | ||
| 1017-T | Cytoplasmic region | None | ||
| 1019-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1022-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 1024-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1025-K | Cytoplasmic region | Prob. Benign (0) | ||
| 1027-R | Cytoplasmic region | None | ||
| 1031-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1036-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1037-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1039-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1041-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1043-K | Cytoplasmic region | None | ||
| 1044-K | Cytoplasmic region | None | ||
| 1046-N | Cytoplasmic region | Prob. Benign (0) | ||
| 1051-R | Cytoplasmic region | Arrhythmia (4) | ||
| 1055-R | Cytoplasmic region | Prob. Benign (1) | 9 | RYR1 - Malignant hyperthermia |
| 1056-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1057-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1059-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1061-G | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 1073-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1076-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1077-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1080-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1082-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1084-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1089-R | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Myopathy, congenital |
| 1091-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1096-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1099-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1100-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1107-T | Cytoplasmic region | Conflict (3) | ||
| 1111-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1119-R | Cytoplasmic region | Prob. Benign (1) | ||
| 1121-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1124-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1127-E | Cytoplasmic region | None | ||
| 1133-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1134-A | Cytoplasmic region | None | ||
| 1136-A | Cytoplasmic region | Conflict (8) | ||
| 1142-A | Cytoplasmic region | None | ||
| 1144-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1150-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1154-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 1161-V | Cytoplasmic region | Prob. Benign (1) | ||
| 1162-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1166-V | Cytoplasmic region | None | ||
| 1168-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1170-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1171-H | Cytoplasmic region | Prob. Benign (0) | ||
| 1172-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1173-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1189-E | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Congenital myopathy |
| 1199-D | Cytoplasmic region | Prob. Benign (1) | ||
| 1208-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1209-V | Cytoplasmic region | None | ||
| 1213-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1214-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1219-K | Cytoplasmic region | None | ||
| 1220-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1223-T | Cytoplasmic region | Arrhythmia (1) | ||
| 1224-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1226-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 1232-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1235-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1241-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1246-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1252-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1254-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1256-P | Cytoplasmic region | Arrhythmia (1) | ||
| 1261-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1267-H | Cytoplasmic region | Prob. Benign (0) | ||
| 1268-I | Cytoplasmic region | Arrhythmia (1) | ||
| 1269-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1275-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1276-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1277-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1279-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1280-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1295-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1296-N | Cytoplasmic region | Prob. Benign (0) | ||
| 1297-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1299-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1300-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1301-F | Cytoplasmic region | Prob. Benign (0) | ||
| 1303-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1306-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1311-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1317-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1318-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1319-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1322-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1324-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1329-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1330-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1331-K | Cytoplasmic region | Prob. Benign (0) | ||
| 1333-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1335-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1337-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 1340-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1341-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1347-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1350-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1357-D | Cytoplasmic region | Prob. Benign (1) | ||
| 1358-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1359-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1360-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1365-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1366-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1372-N | Cytoplasmic region | Prob. Benign (0) | ||
| 1382-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1383-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1397-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 1399-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1400-S | Cytoplasmic region | Benign (0) | ||
| 1410-L | Cytoplasmic region | None | ||
| 1414-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1417-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 1421-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1423-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1425-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1431-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1432-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1438-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1441-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1447-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1454-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1462-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1463-R | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Myopathy, congenital |
| 1465-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1466-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1478-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1482-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1486-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 1489-C | Cytoplasmic region | Other Cardiac (2) | ||
| 1497-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1498-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 1500-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1501-N | Cytoplasmic region | None | ||
| 1502-N | Cytoplasmic region | Prob. Benign (0) | ||
| 1503-N | Cytoplasmic region | None | ||
| 1509-C | Cytoplasmic region | Prob. Benign (0) | ||
| 1512-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1514-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1518-L | Cytoplasmic region | Arrhythmia (1) | ||
| 1526-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1529-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1541-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1551-N | Cytoplasmic region | Arrhythmia (2) | ||
| 1559-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1560-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1564-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1565-P | Cytoplasmic region | None | 9 | RYR1 - Nemaline myopathy |
| 1567-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1572-K | Cytoplasmic region | Prob. Benign (0) | ||
| 1573-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1575-H | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 1578-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1579-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1580-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1581-Q | Cytoplasmic region | Other Cardiac (1) | ||
| 1582-C | Cytoplasmic region | Prob. Benign (0) | ||
| 1583-P | Cytoplasmic region | None | ||
| 1584-P | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 1585-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1587-H | Cytoplasmic region | None | ||
| 1590-F | Cytoplasmic region | Prob. Benign (0) | ||
| 1594-V | Cytoplasmic region | None | ||
| 1596-W | Cytoplasmic region | Prob. Benign (0) | ||
| 1600-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1601-N | Cytoplasmic region | Prob. Benign (0) | ||
| 1610-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1611-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1614-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1617-W | Cytoplasmic region | Prob. Benign (0) | ||
| 1618-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1625-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1628-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1631-H | Cytoplasmic region | None | ||
| 1632-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1638-S | Cytoplasmic region | None | ||
| 1640-D | Cytoplasmic region | None | ||
| 1650-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1653-F | Cytoplasmic region | Prob. Benign (0) | ||
| 1658-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1664-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1669-N | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 1671-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 1674-H | Cytoplasmic region | Prob. Benign (0) | ||
| 1682-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1686-L | Cytoplasmic region | Arrhythmia (1) | ||
| 1687-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 1689-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1693-Y | Cytoplasmic region | None | ||
| 1699-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, RYR1-associated |
| 1701-G | Cytoplasmic region | Prob. Benign (1) | ||
| 1705-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1709-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1716-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1717-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1718-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1719-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1720-M | Cytoplasmic region | Prob. Benign (0) | 6 | RYR1 - Malignant hyperthermia |
| 1724-E | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 1726-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1730-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1733-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1735-S | Cytoplasmic region | None | ||
| 1736-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1742-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1752-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1754-S | Cytoplasmic region | Prob. Benign (1) | ||
| 1756-S | Cytoplasmic region | None | ||
| 1760-R | Cytoplasmic region | Arrhythmia (1) | ||
| 1762-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 1765-S | Cytoplasmic region | Other Cardiac (2) | ||
| 1767-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1768-F | Cytoplasmic region | Prob. Benign (0) | ||
| 1769-V | Cytoplasmic region | Prob. Benign (0) | ||
| 1779-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1786-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1788-K | Cytoplasmic region | Prob. Benign (0) | ||
| 1792-I | Cytoplasmic region | None | ||
| 1795-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1796-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1802-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1803-S | Cytoplasmic region | Prob. Benign (0) | ||
| 1804-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1805-H | Cytoplasmic region | Prob. Benign (0) | ||
| 1806-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1807-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1808-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1810-V | Cytoplasmic region | Arrhythmia (3) | ||
| 1817-L | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Myopathy, congenital |
| 1825-F | Cytoplasmic region | Prob. Benign (0) | ||
| 1829-L | Cytoplasmic region | None | ||
| 1830-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1832-G | Cytoplasmic region | Prob. Benign (0) | ||
| 1837-E | Cytoplasmic region | Arrhythmia (2) | ||
| 1838-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1845-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1848-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1851-F | Cytoplasmic region | Prob. Benign (0) | ||
| 1857-P | Cytoplasmic region | Prob. Benign (0) | ||
| 1858-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1859-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1863-T | Cytoplasmic region | Prob. Benign (0) | ||
| 1865-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1867-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1868-L | Cytoplasmic region | Prob. Benign (0) | ||
| 1872-D | Cytoplasmic region | Other Cardiac (1) | ||
| 1880-E | Cytoplasmic region | None | ||
| 1881-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1882-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1884-K | Cytoplasmic region | Prob. Benign (0) | ||
| 1885-G | Cytoplasmic region | Conflict (9) | ||
| 1886-G | Cytoplasmic region | Benign (2) | ||
| 1888-R | Cytoplasmic region | None | ||
| 1894-L | Cytoplasmic region | Prob. Benign (1) | ||
| 1895-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 1906-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1911-Q | Cytoplasmic region | None | ||
| 1917-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 1919-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1921-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1922-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1924-A | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Multi-minicore disease ? |
| 1925-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1931-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1934-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1941-R | Cytoplasmic region | Prob. Benign (0) | ||
| 1942-F | Cytoplasmic region | Prob. Benign (0) | ||
| 1946-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1955-A | Cytoplasmic region | Prob. Benign (0) | ||
| 1960-R | Cytoplasmic region | None | ||
| 1961-K | Cytoplasmic region | Prob. Benign (0) | ||
| 1973-I | Cytoplasmic region | Prob. Benign (0) | ||
| 1974-N | Cytoplasmic region | Prob. Benign (0) | ||
| 1975-M | Cytoplasmic region | Prob. Benign (0) | ||
| 1978-N | Cytoplasmic region | Prob. Benign (0) | ||
| 1982-D | Cytoplasmic region | Prob. Benign (0) | ||
| 1991-E | Cytoplasmic region | Prob. Benign (0) | ||
| 1993-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2000-H | Cytoplasmic region | Prob. Benign (0) | 7 | RYR1 - Fibre type disproportion, congenital |
| 2005-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2016-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2018-D | Cytoplasmic region | Prob. Benign (0) | ||
| 2019-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2026-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2031-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2035-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2039-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2042-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2045-E | Cytoplasmic region | Arrhythmia (2) | ||
| 2050-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2051-D | Cytoplasmic region | Prob. Benign (0) | ||
| 2053-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2055-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2062-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2067-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2068-R | Cytoplasmic region | None | ||
| 2074-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2075-I | Cytoplasmic region | Other Cardiac (1) | ||
| 2078-P | Cytoplasmic region | Prob. Benign (0) | ||
| 2079-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2082-R | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Centronuclear myopathy |
| 2085-F | Cytoplasmic region | Prob. Benign (0) | ||
| 2093-D | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Exertional myalgia and/or rhabdomyolysis, Malignant hyperthermia |
| 2094-G | Cytoplasmic region | Prob. Benign (0) | 8 | RYR1 - Malignant hyperthermia |
| 2095-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2099-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2100-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2107-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2111-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2113-V | Cytoplasmic region | Conflict (5) | ||
| 2114-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2116-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2119-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2127-R | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 2144-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2145-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2146-L | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2149-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2150-M | Cytoplasmic region | None | ||
| 2152-N | Cytoplasmic region | Prob. Benign (0) | ||
| 2153-K | Cytoplasmic region | Other Disease (1) | ||
| 2156-Y | Cytoplasmic region | Prob. Benign (1) | ||
| 2168-H | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Multiminicore/minicore/multicore disease |
| 2172-M | Cytoplasmic region | None | ||
| 2173-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2175-M | Cytoplasmic region | None | ||
| 2178-V | Cytoplasmic region | Other Cardiac (2) | 9 | RYR1 - Malignant hyperthermia |
| 2179-L | Cytoplasmic region | None | ||
| 2183-E | Cytoplasmic region | Prob. Benign (1) | ||
| 2188-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2191-K | Cytoplasmic region | None | ||
| 2192-M | Cytoplasmic region | Arrhythmia (1) | ||
| 2198-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2200-L | Cytoplasmic region | None | ||
| 2205-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2212-K | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 2213-A | Cytoplasmic region | None | ||
| 2216-D | Cytoplasmic region | Arrhythmia (2) | ||
| 2217-H | Cytoplasmic region | Arrhythmia (2) | 7 | RYR1 - Malignant hyperthermia |
| 2219-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2224-N | Cytoplasmic region | Prob. Benign (0) | ||
| 2225-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2228-G | Cytoplasmic region | Arrhythmia (2) | ||
| 2230-A | Cytoplasmic region | None | ||
| 2233-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2246-S | Cytoplasmic region | Arrhythmia (10) | ||
| 2253-L | Cytoplasmic region | None | ||
| 2254-A | Cytoplasmic region | Arrhythmia (4) | ||
| 2258-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2260-P | Cytoplasmic region | Prob. Benign (0) | ||
| 2262-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2267-R | Cytoplasmic region | Other Cardiac (2) | ||
| 2271-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2277-C | Cytoplasmic region | None | ||
| 2288-I | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2295-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2296-E | Cytoplasmic region | Arrhythmia (2) | ||
| 2306-V | Cytoplasmic region | Arrhythmia (3) | ||
| 2307-F | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Central core disease |
| 2308-C | Cytoplasmic region | Prob. Benign (0) | 9 | RYR3 - Schizophrenia |
| 2311-E | Cytoplasmic region | Arrhythmia (2) | 8 | RYR1 - Malignant hyperthermia ? |
| 2314-E | Cytoplasmic region | None | ||
| 2317-A | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 2321-V | Cytoplasmic region | Other Cardiac (3) | 9 | RYR1 - Malignant hyperthermia |
| 2326-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2328-P | Cytoplasmic region | Arrhythmia (4) | ||
| 2331-F | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 2332-G | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Centronuclear myopathy |
| 2333-P | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2337-G | Cytoplasmic region | Arrhythmia (2) | ||
| 2338-E | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2339-G | Cytoplasmic region | None | ||
| 2342-G | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 2345-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2347-M | Cytoplasmic region | Prob. Benign (0) | ||
| 2353-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2354-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2355-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2359-R | Cytoplasmic region | Arrhythmia (2) | ||
| 2360-D | Cytoplasmic region | Prob. Benign (0) | ||
| 2364-P | Cytoplasmic region | Prob. Benign (0) | ||
| 2365-N | Cytoplasmic region | Prob. Benign (0) | ||
| 2367-G | Cytoplasmic region | None | ||
| 2370-K | Cytoplasmic region | Prob. Benign (0) | 4 | RYR1 - Malignant hyperthermia |
| 2371-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2372-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2373-D | Cytoplasmic region | Prob. Benign (0) | ||
| 2375-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2386-N | Cytoplasmic region | None | ||
| 2387-A | Cytoplasmic region | Arrhythmia (8) | 9 | RYR1 - Myopathy, congenital with cores |
| 2389-M | Cytoplasmic region | Prob. Benign (1) | 9 | RYR1 - Multi-minicore disease |
| 2390-T | Cytoplasmic region | Arrhythmia (2) | ||
| 2392-Y | Cytoplasmic region | Arrhythmia (2) | 5 | RYR1 - Exertional myalgia and/or rhabdomyolysis |
| 2394-A | Cytoplasmic region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 2395-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2397-D | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 2400-G | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 2401-R | Cytoplasmic region | Arrhythmia (8) | 9 | RYR1 - Central core disease |
| 2402-C | Cytoplasmic region | Arrhythmia (2) | ||
| 2403-A | Cytoplasmic region | Arrhythmia (4) | 9 | RYR1 - Malignant hyperthermia |
| 2404-P | Cytoplasmic region | Arrhythmia (3) | ||
| 2411-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2412-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2420-R | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Malignant hyperthermia |
| 2426-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2428-P | Cytoplasmic region | Prob. Benign (0) | ||
| 2433-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2435-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2438-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2439-A | Cytoplasmic region | Prob. Benign (1) | ||
| 2441-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 2451-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2452-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2458-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2461-C | Cytoplasmic region | Prob. Benign (0) | ||
| 2462-P | Cytoplasmic region | None | 7 | RYR1 - Malignant hyperthermia |
| 2468-M | Cytoplasmic region | Prob. Benign (0) | ||
| 2474-R | Cytoplasmic region | Arrhythmia (8) | 9 | RYR1 - Central core disease |
| 2475-V | Cytoplasmic region | Arrhythmia (4) | ||
| 2480-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2483-F | Cytoplasmic region | Arrhythmia (3) | ||
| 2485-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2486-H | Cytoplasmic region | Prob. Benign (0) | ||
| 2487-L | Cytoplasmic region | Prob. Benign (1) | ||
| 2490-V | Cytoplasmic region | None | ||
| 2492-F | Cytoplasmic region | Prob. Benign (0) | ||
| 2493-L | Cytoplasmic region | None | ||
| 2498-A | Cytoplasmic region | Arrhythmia (3) | ||
| 2499-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2501-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2504-T | Cytoplasmic region | None | ||
| 2510-T | Cytoplasmic region | Arrhythmia (2) | ||
| 2511-D | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Central core disease |
| 2512-M | Cytoplasmic region | Prob. Benign (0) | ||
| 2516-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2518-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2520-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2522-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2525-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2533-P | Cytoplasmic region | Arrhythmia (1) | ||
| 2534-L | Cytoplasmic region | Arrhythmia (2) | ||
| 2538-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2540-H | Cytoplasmic region | Prob. Benign (0) | ||
| 2541-H | Cytoplasmic region | Prob. Benign (0) | ||
| 2542-A | Cytoplasmic region | Prob. Benign (1) | ||
| 2543-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2545-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2552-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2564-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2566-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2567-D | Cytoplasmic region | Prob. Benign (0) | ||
| 2569-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2570-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2572-C | Cytoplasmic region | Prob. Benign (0) | ||
| 2582-P | Cytoplasmic region | Prob. Benign (0) | ||
| 2584-M | Cytoplasmic region | Prob. Benign (1) | ||
| 2592-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2593-V | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2600-N | Cytoplasmic region | Prob. Benign (0) | ||
| 2603-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2605-M | Cytoplasmic region | Arrhythmia (2) | ||
| 2607-L | Cytoplasmic region | Other Cardiac (1) | ||
| 2619-K | Cytoplasmic region | None | ||
| 2628-G | Cytoplasmic region | Arrhythmia (1) | ||
| 2631-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2639-H | Cytoplasmic region | Prob. Benign (0) | ||
| 2642-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Multi-minicore disease |
| 2643-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2645-F | Cytoplasmic region | Prob. Benign (0) | ||
| 2646-W | Cytoplasmic region | Prob. Benign (0) | ||
| 2647-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2652-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2657-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 2665-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2666-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2673-A | Cytoplasmic region | None | ||
| 2675-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2680-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 2681-M | Cytoplasmic region | Prob. Benign (0) | ||
| 2683-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2687-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2692-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 2699-G | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 2703-P | Cytoplasmic region | Prob. Benign (0) | ||
| 2710-N | Cytoplasmic region | None | ||
| 2715-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2716-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2720-F | Cytoplasmic region | Prob. Benign (0) | ||
| 2721-I | Cytoplasmic region | Conflict (2) | ||
| 2735-D | Cytoplasmic region | Prob. Benign (0) | ||
| 2743-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 2746-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2750-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2754-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 2757-M | Cytoplasmic region | Prob. Benign (0) | ||
| 2758-K | Cytoplasmic region | Prob. Benign (1) | ||
| 2770-I | Cytoplasmic region | None | ||
| 2772-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2781-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2793-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2803-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2806-R | Cytoplasmic region | None | ||
| 2809-Q | Cytoplasmic region | None | ||
| 2812-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 2815-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2817-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2818-A | Cytoplasmic region | None | ||
| 2819-H | Cytoplasmic region | Prob. Benign (0) | ||
| 2824-R | Cytoplasmic region | Arrhythmia (1) | ||
| 2826-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2829-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2836-D | Cytoplasmic region | Prob. Benign (0) | ||
| 2851-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2859-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2861-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2863-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2869-P | Cytoplasmic region | Prob. Benign (0) | ||
| 2877-L | Cytoplasmic region | Prob. Benign (0) | ||
| 2886-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2887-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2888-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2906-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2914-T | Cytoplasmic region | Prob. Benign (0) | ||
| 2920-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2931-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2932-Y | Cytoplasmic region | None | ||
| 2933-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2934-D | Cytoplasmic region | Prob. Benign (0) | ||
| 2936-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2939-Y | Cytoplasmic region | Prob. Benign (0) | ||
| 2946-G | Cytoplasmic region | Prob. Benign (0) | ||
| 2950-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2952-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2958-Q | Cytoplasmic region | Conflict (6) | ||
| 2959-E | Cytoplasmic region | Prob. Benign (0) | ||
| 2960-I | Cytoplasmic region | Prob. Benign (0) | ||
| 2962-F | Cytoplasmic region | Prob. Benign (0) | ||
| 2965-K | Cytoplasmic region | Prob. Benign (0) | ||
| 2966-V | Cytoplasmic region | Prob. Benign (0) | ||
| 2978-H | Cytoplasmic region | Prob. Benign (0) | ||
| 2979-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2985-A | Cytoplasmic region | Prob. Benign (0) | ||
| 2986-A | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 2987-S | Cytoplasmic region | Prob. Benign (0) | ||
| 2988-R | Cytoplasmic region | Prob. Benign (0) | ||
| 2990-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3011-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3017-H | Cytoplasmic region | Prob. Benign (0) | ||
| 3018-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3029-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3032-C | Cytoplasmic region | Prob. Benign (0) | ||
| 3042-A | Cytoplasmic region | None | ||
| 3044-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3054-K | Cytoplasmic region | None | ||
| 3061-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3062-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3064-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3072-M | Cytoplasmic region | Prob. Benign (0) | ||
| 3076-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3083-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3084-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 3087-P | Cytoplasmic region | Prob. Benign (0) | ||
| 3089-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3094-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3095-N | Cytoplasmic region | Prob. Benign (0) | ||
| 3098-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3099-V | Cytoplasmic region | None | ||
| 3112-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3113-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3118-G | Cytoplasmic region | None | ||
| 3120-D | Cytoplasmic region | None | ||
| 3122-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3136-S | Cytoplasmic region | Prob. Benign (0) | ||
| 3138-Y | Cytoplasmic region | None | ||
| 3144-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3145-S | Cytoplasmic region | Prob. Benign (0) | ||
| 3148-V | Cytoplasmic region | Prob. Benign (0) | ||
| 3152-R | Cytoplasmic region | Prob. Benign (1) | ||
| 3153-S | Cytoplasmic region | Prob. Benign (0) | ||
| 3156-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3170-F | Cytoplasmic region | Prob. Benign (0) | ||
| 3173-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3174-H | Cytoplasmic region | Prob. Benign (0) | ||
| 3176-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3179-N | Cytoplasmic region | Prob. Benign (0) | ||
| 3187-K | Cytoplasmic region | Benign (2) | ||
| 3190-R | Cytoplasmic region | Prob. Benign (1) | ||
| 3192-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3200-N | Cytoplasmic region | Prob. Benign (0) | ||
| 3201-V | Cytoplasmic region | Prob. Benign (0) | ||
| 3207-N | Cytoplasmic region | Prob. Benign (0) | ||
| 3208-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3209-P | Cytoplasmic region | Prob. Benign (0) | ||
| 3214-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3216-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3219-V | Cytoplasmic region | None | ||
| 3223-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3225-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3227-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3230-Q | Cytoplasmic region | None | ||
| 3231-M | Cytoplasmic region | Prob. Benign (0) | ||
| 3235-M | Cytoplasmic region | Prob. Benign (0) | ||
| 3246-M | Cytoplasmic region | Prob. Benign (0) | ||
| 3250-W | Cytoplasmic region | Prob. Benign (0) | ||
| 3252-H | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Congenital myopathy with central nuclei |
| 3258-P | Cytoplasmic region | Prob. Benign (0) | ||
| 3260-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3261-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3262-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3272-H | Cytoplasmic region | Prob. Benign (0) | ||
| 3274-N | Cytoplasmic region | Prob. Benign (0) | ||
| 3275-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3280-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3281-L | Cytoplasmic region | None | ||
| 3290-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3292-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3293-G | Cytoplasmic region | None | ||
| 3294-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3296-M | Cytoplasmic region | None | ||
| 3304-Q | Cytoplasmic region | Arrhythmia (1) | ||
| 3308-N | Cytoplasmic region | Prob. Benign (1) | ||
| 3311-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3316-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3321-P | Cytoplasmic region | Prob. Benign (0) | ||
| 3323-M | Cytoplasmic region | Prob. Benign (0) | ||
| 3328-K | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Central core disease |
| 3332-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3336-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3337-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3338-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3341-K | Cytoplasmic region | Benign (0) | ||
| 3342-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3343-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3345-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3347-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3348-M | Cytoplasmic region | None | ||
| 3349-S | Cytoplasmic region | Prob. Benign (0) | ||
| 3351-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3358-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3360-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3363-A | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Fibre type disproportion, congenital |
| 3366-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3376-F | Cytoplasmic region | None | ||
| 3378-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3382-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3394-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3397-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3398-M | Cytoplasmic region | Prob. Benign (0) | ||
| 3402-V | Cytoplasmic region | Prob. Benign (0) | ||
| 3404-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3407-S | Cytoplasmic region | Prob. Benign (0) | ||
| 3420-V | Cytoplasmic region | Prob. Benign (0) | ||
| 3422-Q | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Rhabdomyolysis episodes |
| 3434-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3435-T | Cytoplasmic region | None | ||
| 3442-A | Cytoplasmic region | None | ||
| 3444-V | Cytoplasmic region | Prob. Benign (0) | ||
| 3454-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3455-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3458-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3461-M | Cytoplasmic region | Prob. Benign (0) | ||
| 3466-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3469-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3476-I | Cytoplasmic region | None | ||
| 3480-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3482-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3491-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3495-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Central core disease |
| 3496-F | Cytoplasmic region | None | ||
| 3498-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3502-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3506-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3508-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3510-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3519-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3524-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3530-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3539-D | Cytoplasmic region | Prob. Benign (0) | 5 | RYR1 - Malignant hyperthermia |
| 3544-P | Cytoplasmic region | Prob. Benign (0) | ||
| 3547-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3560-H | Cytoplasmic region | Prob. Benign (0) | ||
| 3561-L | Cytoplasmic region | None | ||
| 3567-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3570-R | Cytoplasmic region | Other Cardiac (3) | ||
| 3581-R | Cytoplasmic region | Other Cardiac (1) | ||
| 3583-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3589-K | Cytoplasmic region | None | ||
| 3593-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3597-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3604-R | Cytoplasmic region | Prob. Benign (0) | ||
| 3606-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3615-R | Cytoplasmic region | None | ||
| 3630-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3631-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3633-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3635-Y | Cytoplasmic region | None | ||
| 3638-D | Cytoplasmic region | Arrhythmia (1) | ||
| 3647-P | Cytoplasmic region | Prob. Benign (0) | ||
| 3648-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3654-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3657-G | Cytoplasmic region | None | ||
| 3658-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3659-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3669-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3673-R | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Malignant hyperthermia |
| 3675-A | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3678-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3679-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3683-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3690-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3693-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3697-K | Cytoplasmic region | Prob. Benign (0) | ||
| 3701-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3707-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3709-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3711-V | Cytoplasmic region | None | ||
| 3714-F | Cytoplasmic region | None | ||
| 3718-E | Cytoplasmic region | None | ||
| 3720-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3725-L | Cytoplasmic region | None | ||
| 3728-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 3733-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3736-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3739-M | Cytoplasmic region | None | ||
| 3740-V | Cytoplasmic region | Prob. Benign (0) | ||
| 3741-L | Cytoplasmic region | None | ||
| 3742-Q | Cytoplasmic region | None | ||
| 3750-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3751-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3757-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3758-T | Cytoplasmic region | None | ||
| 3759-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3765-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3773-V | Cytoplasmic region | None | ||
| 3778-L | Cytoplasmic region | Arrhythmia (2) | ||
| 3781-L | Cytoplasmic region | Prob. Benign (0) | ||
| 3783-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3788-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3795-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3798-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 3799-S | Cytoplasmic region | Arrhythmia (2) | ||
| 3800-C | Cytoplasmic region | Arrhythmia (3) | ||
| 3807-A | Cytoplasmic region | Prob. Benign (0) | ||
| 3808-F | Cytoplasmic region | Prob. Benign (0) | ||
| 3809-E | Cytoplasmic region | None | ||
| 3819-M | Cytoplasmic region | None | ||
| 3821-T | Cytoplasmic region | Prob. Benign (0) | ||
| 3833-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3851-N | Cytoplasmic region | Prob. Benign (0) | ||
| 3853-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3857-Y | Cytoplasmic region | None | ||
| 3861-Q | Cytoplasmic region | Arrhythmia (2) | ||
| 3863-G | Cytoplasmic region | None | ||
| 3864-N | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 3869-N | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital, RYR1-related |
| 3876-D | Cytoplasmic region | Arrhythmia (1) | ||
| 3879-L | Cytoplasmic region | Arrhythmia (3) | ||
| 3883-E | Cytoplasmic region | Prob. Benign (0) | ||
| 3894-G | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia ? |
| 3896-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3899-D | Cytoplasmic region | Prob. Benign (0) | ||
| 3918-N | Cytoplasmic region | None | ||
| 3925-Q | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 3938-S | Cytoplasmic region | Arrhythmia (5) | ||
| 3943-A | Cytoplasmic region | Other Cardiac (1) | ||
| 3946-G | Cytoplasmic region | Arrhythmia (10) | 9 | RYR1 - Malignant hyperthermia |
| 3959-S | Cytoplasmic region | Arrhythmia (3) | ||
| 3963-S | Cytoplasmic region | Prob. Benign (0) | ||
| 3965-I | Cytoplasmic region | Prob. Benign (0) | ||
| 3972-M | Cytoplasmic region | Arrhythmia (2) | ||
| 3973-D | Cytoplasmic region | Arrhythmia (3) | ||
| 3974-L | Cytoplasmic region | Arrhythmia (2) | ||
| 3977-D | Cytoplasmic region | Arrhythmia (2) | ||
| 3978-M | Cytoplasmic region | Arrhythmia (2) | ||
| 3985-M | Cytoplasmic region | None | ||
| 3987-E | Cytoplasmic region | None | ||
| 3988-G | Cytoplasmic region | Prob. Benign (0) | ||
| 3989-N | Cytoplasmic region | None | ||
| 3990-V | Cytoplasmic region | Arrhythmia (2) | ||
| 3992-N | Cytoplasmic region | Prob. Benign (0) | ||
| 3997-K | Cytoplasmic region | Arrhythmia (3) | 9 | RYR1 - Malignant hyperthermia |
| 3999-M | Cytoplasmic region | None | ||
| 4000-V | Cytoplasmic region | Prob. Benign (0) | ||
| 4002-M | Cytoplasmic region | Arrhythmia (1) | ||
| 4010-V | Cytoplasmic region | Prob. Benign (1) | ||
| 4011-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4016-F | Cytoplasmic region | Prob. Benign (0) | ||
| 4019-M | Cytoplasmic region | Prob. Benign (0) | ||
| 4020-F | Cytoplasmic region | Arrhythmia (5) | ||
| 4026-L | Cytoplasmic region | Prob. Benign (0) | ||
| 4028-S | Cytoplasmic region | Prob. Benign (0) | ||
| 4031-T | Cytoplasmic region | Prob. Benign (0) | ||
| 4036-D | Cytoplasmic region | Prob. Benign (0) | ||
| 4039-G | Cytoplasmic region | Prob. Benign (0) | ||
| 4041-G | Cytoplasmic region | Arrhythmia (1) | ||
| 4047-D | Cytoplasmic region | None | ||
| 4048-F | Cytoplasmic region | Prob. Benign (0) | ||
| 4051-A | Cytoplasmic region | Prob. Benign (0) | ||
| 4054-S | Cytoplasmic region | Prob. Benign (0) | ||
| 4055-H | Cytoplasmic region | Prob. Benign (0) | ||
| 4056-K | Cytoplasmic region | Prob. Benign (0) | ||
| 4059-T | Cytoplasmic region | Prob. Benign (0) | ||
| 4070-A | Cytoplasmic region | Prob. Benign (0) | ||
| 4071-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4073-D | Cytoplasmic region | Prob. Benign (0) | ||
| 4076-E | Cytoplasmic region | Arrhythmia (4) | ||
| 4078-L | Cytoplasmic region | Prob. Benign (0) | ||
| 4079-D | Cytoplasmic region | Prob. Benign (0) | ||
| 4080-Y | Cytoplasmic region | None | ||
| 4081-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4082-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4083-F | Cytoplasmic region | Prob. Benign (0) | ||
| 4086-R | Cytoplasmic region | Prob. Benign (0) | ||
| 4090-P | Cytoplasmic region | None | ||
| 4091-A | Cytoplasmic region | Arrhythmia (5) | ||
| 4095-G | Cytoplasmic region | Prob. Benign (0) | ||
| 4097-N | Cytoplasmic region | Arrhythmia (2) | ||
| 4100-V | Cytoplasmic region | Prob. Benign (0) | ||
| 4101-L | Cytoplasmic region | None | ||
| 4104-N | Cytoplasmic region | Arrhythmia (5) | ||
| 4105-L | Cytoplasmic region | Arrhythmia (2) | ||
| 4108-H | Cytoplasmic region | Arrhythmia (5) | ||
| 4109-M | Cytoplasmic region | Arrhythmia (3) | ||
| 4111-N | Cytoplasmic region | Prob. Benign (0) | ||
| 4115-L | Cytoplasmic region | Arrhythmia (1) | ||
| 4123-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4124-S | Cytoplasmic region | Arrhythmia (8) | ||
| 4125-V | Cytoplasmic region | Prob. Benign (0) | ||
| 4127-N | Cytoplasmic region | None | ||
| 4135-R | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 4137-E | Cytoplasmic region | Prob. Benign (0) | 9 | RYR1 - Myopathy, congenital |
| 4139-M | Cytoplasmic region | Other Cardiac (1) | ||
| 4143-K | Cytoplasmic region | Prob. Benign (0) | ||
| 4144-R | Cytoplasmic region | Arrhythmia (3) | ||
| 4146-E | Cytoplasmic region | Arrhythmia (3) | ||
| 4149-Y | Cytoplasmic region | Arrhythmia (2) | ||
| 4153-S | Cytoplasmic region | Arrhythmia (5) | ||
| 4155-S | Cytoplasmic region | Arrhythmia (1) | ||
| 4157-R | Cytoplasmic region | Arrhythmia (2) | ||
| 4158-T | Cytoplasmic region | Arrhythmia (3) | ||
| 4159-Q | Cytoplasmic region | Arrhythmia (3) | ||
| 4176-V | Cytoplasmic region | None | ||
| 4178-N | Cytoplasmic region | Arrhythmia (4) | ||
| 4180-G | Cytoplasmic region | Prob. Benign (0) | ||
| 4181-G | Cytoplasmic region | Prob. Benign (0) | ||
| 4182-E | Cytoplasmic region | None | ||
| 4184-E | Cytoplasmic region | None | ||
| 4187-E | Cytoplasmic region | Arrhythmia (3) | ||
| 4188-L | Cytoplasmic region | Arrhythmia (2) | ||
| 4193-C | Cytoplasmic region | Arrhythmia (1) | ||
| 4194-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4195-D | Cytoplasmic region | None | ||
| 4196-T | Cytoplasmic region | Arrhythmia (3) | ||
| 4197-I | Cytoplasmic region | Prob. Benign (0) | ||
| 4201-Q | Cytoplasmic region | Arrhythmia (4) | ||
| 4203-A | Cytoplasmic region | None | ||
| 4204-A | Cytoplasmic region | Other Cardiac (1) | ||
| 4216-A | Cytoplasmic region | Prob. Benign (0) | ||
| 4220-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4221-S | Cytoplasmic region | Prob. Benign (0) | ||
| 4222-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4224-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4228-E | Cytoplasmic region | Prob. Benign (0) | ||
| 4231-P | Cytoplasmic region | None | ||
| 4232-R | Cytoplasmic region | Prob. Benign (0) | ||
| 4234-A | Cytoplasmic region | Prob. Benign (0) | 3 | RYR1 - Malignant hyperthermia |
| 4249-R | Cytoplasmic region | Prob. Benign (0) | ||
| 4250-Y | Cytoplasmic region | None | ||
| 4251-N | Cytoplasmic region | Prob. Benign (0) | ||
| 4255-L | Cytoplasmic region | Prob. Benign (0) | ||
| 4256-M | Cytoplasmic region | Prob. Benign (0) | ||
| 4257-R | Cytoplasmic region | Prob. Benign (0) | ||
| 4258-M | Cytoplasmic region | None | ||
| 4263-S | Cytoplasmic region | Prob. Benign (0) | ||
| 4267-Q | Cytoplasmic region | Prob. Benign (0) | ||
| 4271-V | Cytoplasmic region | Prob. Benign (0) | ||
| 4273-K | Cytoplasmic region | Prob. Benign (0) | ||
| 4276-V | Cytoplasmic region | Prob. Benign (0) | ||
| 4279-M | Cytoplasmic region | Prob. Benign (0) | ||
| 4281-T | Cytoplasmic region | Prob. Benign (0) | ||
| 4282-A | Transmembrane region | Prob. Benign (1) | 7 | RYR1 - Exertional heat illness |
| 4284-F | Transmembrane region | Prob. Benign (0) | ||
| 4285-S | Transmembrane region | Prob. Benign (0) | ||
| 4287-Y | Transmembrane region | Prob. Benign (0) | ||
| 4290-I | Transmembrane region | Prob. Benign (0) | ||
| 4298-V | Transmembrane region | Arrhythmia (1) | ||
| 4301-V | Transmembrane region | Prob. Benign (0) | ||
| 4306-F | Transmembrane region | Prob. Benign (0) | ||
| 4307-R | Transmembrane region | Benign (1) | ||
| 4315-G | Transmembrane region | Prob. Benign (1) | ||
| 4321-G | Transmembrane region | Prob. Benign (0) | ||
| 4324-K | Transmembrane region | None | ||
| 4327-V | Transmembrane region | Prob. Benign (0) | ||
| 4328-A | Transmembrane region | Prob. Benign (0) | ||
| 4330-L | Transmembrane region | Prob. Benign (0) | ||
| 4333-N | Transmembrane region | Prob. Benign (0) | ||
| 4336-D | Transmembrane region | Prob. Benign (0) | ||
| 4341-E | Transmembrane region | Prob. Benign (0) | ||
| 4344-G | Transmembrane region | Prob. Benign (0) | ||
| 4345-D | Transmembrane region | Prob. Benign (0) | ||
| 4353-P | Transmembrane region | None | ||
| 4357-A | Transmembrane region | Prob. Benign (0) | ||
| 4361-E | Transmembrane region | Other Cardiac (1) | ||
| 4363-L | Transmembrane region | Prob. Benign (0) | ||
| 4365-D | Transmembrane region | Prob. Benign (1) | ||
| 4377-S | Transmembrane region | None | ||
| 4390-Q | Transmembrane region | Prob. Benign (0) | ||
| 4392-K | Transmembrane region | Arrhythmia (1) | ||
| 4397-N | Transmembrane region | Prob. Benign (0) | ||
| 4399-N | Transmembrane region | Prob. Benign (0) | ||
| 4400-A | Transmembrane region | Prob. Benign (0) | ||
| 4405-L | Transmembrane region | Prob. Benign (0) | ||
| 4406-M | Transmembrane region | Prob. Benign (0) | ||
| 4407-S | Transmembrane region | Prob. Benign (0) | ||
| 4410-V | Transmembrane region | Prob. Benign (0) | ||
| 4412-M | Transmembrane region | Prob. Benign (0) | ||
| 4421-E | Transmembrane region | Prob. Benign (0) | ||
| 4423-K | Transmembrane region | Prob. Benign (0) | ||
| 4424-A | Transmembrane region | None | ||
| 4428-E | Transmembrane region | Prob. Benign (0) | ||
| 4431-E | Transmembrane region | Arrhythmia (2) | ||
| 4432-K | Transmembrane region | Prob. Benign (0) | ||
| 4434-E | Transmembrane region | Prob. Benign (0) | ||
| 4435-T | Transmembrane region | Prob. Benign (0) | ||
| 4439-P | Transmembrane region | Prob. Benign (0) | 5 | RYR1 - Malignant hyperthermia ? |
| 4443-E | Transmembrane region | Prob. Benign (0) | 6 | RYR1 - Myopathy, progressive axial with cataracts |
| 4447-G | Transmembrane region | Prob. Benign (0) | ||
| 4451-E | Transmembrane region | Prob. Benign (0) | ||
| 4457-K | Transmembrane region | Prob. Benign (0) | ||
| 4460-Q | Transmembrane region | Prob. Benign (0) | ||
| 4467-T | Transmembrane region | Prob. Benign (0) | ||
| 4469-R | Transmembrane region | Prob. Benign (0) | ||
| 4470-Y | Transmembrane region | Prob. Benign (0) | ||
| 4471-G | Transmembrane region | Other Cardiac (1) | ||
| 4473-P | Transmembrane region | None | ||
| 4485-I | Transmembrane region | Prob. Benign (0) | ||
| 4486-A | Transmembrane region | Prob. Benign (0) | ||
| 4488-Q | Transmembrane region | Arrhythmia (1) | ||
| 4497-R | Transmembrane region | Arrhythmia (5) | 9 | RYR1 - Central core disease |
| 4499-F | Transmembrane region | Arrhythmia (3) | ||
| 4502-M | Transmembrane region | None | ||
| 4504-M | Transmembrane region | Arrhythmia (3) | ||
| 4506-A | Transmembrane region | None | ||
| 4507-L | Transmembrane region | None | 9 | RYR1 - Central core disease |
| 4510-A | Transmembrane region | Arrhythmia (3) | ||
| 4514-N | Transmembrane region | None | ||
| 4524-T | Transmembrane region | Prob. Benign (0) | ||
| 4534-P | Transmembrane region | Prob. Benign (0) | ||
| 4535-T | Transmembrane region | Prob. Benign (0) | ||
| 4539-S | Transmembrane region | Prob. Benign (0) | ||
| 4543-K | Transmembrane region | Prob. Benign (0) | ||
| 4545-T | Transmembrane region | None | ||
| 4546-S | Transmembrane region | Prob. Benign (0) | ||
| 4552-H | Transmembrane region | Other Cardiac (1) | ||
| 4556-A | Transmembrane region | Arrhythmia (5) | ||
| 4558-H | Transmembrane region | Arrhythmia (1) | ||
| 4564-S | Transmembrane region | Prob. Benign (0) | ||
| 4565-S | Transmembrane region | Other Cardiac (2) | 9 | RYR1 - Core/rod disease, Myopathy, congenital |
| 4571-T | Transmembrane region | Prob. Benign (0) | 9 | RYR1 - Muscular dystrophy |
| 4573-R | Transmembrane region | Prob. Benign (0) | 6 | RYR1 - Malignant hyperthermia |
| 4579-H | Transmembrane region | Arrhythmia (1) | 7 | RYR1 - Central core disease |
| 4583-S | Transmembrane region | None | ||
| 4587-I | Transmembrane region | Arrhythmia (1) | ||
| 4588-I | Transmembrane region | None | ||
| 4594-K | Transmembrane region | Arrhythmia (2) | ||
| 4600-F | Transmembrane region | Arrhythmia (1) | ||
| 4607-A | Transmembrane region | Arrhythmia (2) | ||
| 4608-R | Transmembrane region | Arrhythmia (2) | ||
| 4611-E | Transmembrane region | Arrhythmia (2) | ||
| 4622-S | Transmembrane region | Prob. Benign (0) | ||
| 4625-D | Transmembrane region | Prob. Benign (0) | ||
| 4630-W | Transmembrane region | None | ||
| 4631-D | Transmembrane region | Arrhythmia (1) | ||
| 4634-V | Transmembrane region | Prob. Benign (0) | ||
| 4635-I | Transmembrane region | Prob. Benign (0) | ||
| 4636-N | Transmembrane region | Prob. Benign (0) | ||
| 4645-W | Transmembrane region | Arrhythmia (4) | ||
| 4650-K | Transmembrane region | Arrhythmia (4) | ||
| 4653-V | Transmembrane region | Arrhythmia (3) | ||
| 4659-E | Transmembrane region | Prob. Benign (0) | ||
| 4662-G | Transmembrane region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 4666-I | Transmembrane region | Prob. Benign (0) | ||
| 4670-L | Transmembrane region | Arrhythmia (3) | ||
| 4671-G | Transmembrane region | Arrhythmia (6) | 9 | RYR1 - Multiminicore/minicore/multicore disease |
| 4676-A | Transmembrane region | Prob. Benign (0) | ||
| 4683-R | Transmembrane region | Prob. Benign (0) | ||
| 4688-P | Transmembrane region | None | ||
| 4700-S | Transmembrane region | Prob. Benign (0) | ||
| 4701-I | Transmembrane region | Prob. Benign (0) | ||
| 4706-Q | Transmembrane region | Prob. Benign (0) | ||
| 4708-W | Transmembrane region | None | ||
| 4712-V | Transmembrane region | Prob. Benign (0) | ||
| 4716-D | Transmembrane region | None | ||
| 4718-S | Transmembrane region | Prob. Benign (0) | ||
| 4720-L | Transmembrane region | None | ||
| 4723-A | Transmembrane region | Prob. Benign (0) | ||
| 4724-W | Transmembrane region | Prob. Benign (0) | ||
| 4725-Y | Transmembrane region | Arrhythmia (1) | 9 | RYR1 - Central core disease |
| 4728-M | Transmembrane region | Prob. Benign (0) | ||
| 4741-A | Transmembrane region | Arrhythmia (1) | ||
| 4742-H | Transmembrane region | Other Cardiac (2) | 9 | RYR1 - Myopathy, congenital |
| 4750-F | Transmembrane region | Prob. Benign (0) | ||
| 4751-K | Transmembrane region | Arrhythmia (1) | ||
| 4758-S | Transmembrane region | Prob. Benign (0) | ||
| 4760-V | Transmembrane region | None | ||
| 4762-H | Transmembrane region | Arrhythmia (2) | 9 | RYR1 - Malignant hyperthermia |
| 4763-N | Transmembrane region | None | ||
| 4768-V | Transmembrane region | Prob. Benign (0) | ||
| 4771-V | Transmembrane region | Arrhythmia (6) | 9 | RYR1 - Myopathy, congenital with cores |
| 4772-G | Transmembrane region | Prob. Benign (0) | ||
| 4782-T | Transmembrane region | Prob. Benign (0) | 9 | RYR1 - Malignant hyperthermia |
| 4790-R | Transmembrane region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 4802-P | Transmembrane region | Prob. Benign (0) | ||
| 4805-K | Transmembrane region | Arrhythmia (3) | 9 | RYR1 - Malignant hyperthermia |
| 4808-D | Transmembrane region | Prob. Benign (0) | ||
| 4814-M | Transmembrane region | None | ||
| 4821-V | Transmembrane region | Arrhythmia (2) | ||
| 4822-R | Transmembrane region | Arrhythmia (3) | 9 | RYR1 - Central core disease |
| 4824-G | Transmembrane region | Prob. Benign (0) | ||
| 4831-I | Transmembrane region | Prob. Benign (0) | ||
| 4838-E | Transmembrane region | Prob. Benign (0) | ||
| 4848-I | Transmembrane region | Arrhythmia (3) | ||
| 4851-F | Transmembrane region | Arrhythmia (4) | ||
| 4855-I | Transmembrane region | Prob. Benign (0) | ||
| 4860-A | Transmembrane region | Arrhythmia (4) | ||
| 4865-L | Transmembrane region | Arrhythmia (1) | 9 | RYR1 - Central core disease |
| 4867-I | Transmembrane region | Arrhythmia (4) | 9 | RYR1 - Central core disease, Malignant hyperthermia |
| 4875-D | Cytoplasmic region | None | ||
| 4879-Q | Cytoplasmic region | None | ||
| 4880-V | Cytoplasmic region | Arrhythmia (2) | ||
| 4890-I | Cytoplasmic region | Prob. Benign (0) | ||
| 4893-I | Cytoplasmic region | Prob. Benign (0) | ||
| 4895-N | Cytoplasmic region | Arrhythmia (3) | ||
| 4896-D | Cytoplasmic region | Prob. Benign (0) | ||
| 4898-F | Cytoplasmic region | None | ||
| 4899-D | Cytoplasmic region | None | ||
| 4902-P | Cytoplasmic region | Arrhythmia (6) | 9 | RYR1 - Malignant hyperthermia |
| 4903-H | Cytoplasmic region | Prob. Benign (0) | ||
| 4904-G | Cytoplasmic region | Other Cardiac (1) | ||
| 4905-F | Cytoplasmic region | Arrhythmia (1) | 9 | RYR1 - Myopathy, congenital |
| 4909-T | Cytoplasmic region | None | 9 | RYR1 - Myopathy, congenital |
| 4919-L | Cytoplasmic region | Arrhythmia (1) | ||
| 4935-G | Cytoplasmic region | Arrhythmia (3) | ||
| 4936-Q | Cytoplasmic region | Arrhythmia (1) | ||
| 4949-W | Cytoplasmic region | None | 9 | RYR1 - Malignant hyperthermia |
| 4950-E | Cytoplasmic region | Arrhythmia (2) | ||
| 4955-G | Cytoplasmic region | Other Disease (1) | ||
| 4957-C | Cytoplasmic region | Prob. Benign (0) | ||
| 4959-R | Cytoplasmic region | Arrhythmia (4) | ||
| 4961-Q | Cytoplasmic region | Prob. Benign (0) |