RYR2 Paralogue Annotation

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 or mapped disease-causing missense variants from paralogues 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), 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.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
3-D Cytoplasmic regionProb. Benign (0)
7-G Cytoplasmic regionProb. Benign (0)
11-I Cytoplasmic regionNone
13-F Cytoplasmic regionNone
14-L Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia, Myopathy, congenital with cores
17-D Cytoplasmic regionProb. Benign (0)
26-A Cytoplasmic regionProb. Benign (0)
29-H Cytoplasmic regionArrhythmia (2)
31-E Cytoplasmic regionNone9 RYR1 - Atrioventricular septum defect
34-K Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
36-C Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
38-A Cytoplasmic regionProb. Benign (0)
40-E Cytoplasmic regionProb. Benign (0)
41-G Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
42-F Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
45-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
46-L Cytoplasmic regionProb. Benign (0)
48-F Cytoplasmic regionProb. Benign (0)
49-L Cytoplasmic regionNone
52-T Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia ?
53-S Cytoplasmic regionNone9 RYR1 - Obesity, extreme
60-P Cytoplasmic regionProb. Benign (0)
61-D Cytoplasmic regionNone8 RYR1 - Central core disease, Malignant hyperthermia
62-L Cytoplasmic regionArrhythmia (3)
65-C Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia ?
66-T Cytoplasmic regionProb. Benign (0)
68-V Cytoplasmic regionProb. Benign (0)
72-S Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
73-L Cytoplasmic regionOther Cardiac (1)
76-R Cytoplasmic regionProb. Benign (0)
77-A Cytoplasmic regionNone
79-Q Cytoplasmic regionProb. Benign (0)
80-E Cytoplasmic regionNone
81-M Cytoplasmic regionArrhythmia (2)
85-T Cytoplasmic regionProb. Benign (0)
91-G Cytoplasmic regionProb. Benign (0)
94-D Cytoplasmic regionNone
101-M Cytoplasmic regionProb. Benign (0)
103-K Cytoplasmic regionNone
114-L Cytoplasmic regionProb. Benign (0)
118-A Cytoplasmic regionProb. Benign (0)
122-R Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
125-Y Cytoplasmic regionNone7 RYR1 - Myopathy, congenital
126-S Cytoplasmic regionNone
128-M Cytoplasmic regionNone
134-S Cytoplasmic regionProb. Benign (0)
137-R Cytoplasmic regionProb. Benign (0)
138-S Cytoplasmic regionProb. Benign (0)
152-D Cytoplasmic regionNone
153-T Cytoplasmic regionProb. Benign (0)
154-T Cytoplasmic regionProb. Benign (0)
157-A Cytoplasmic regionProb. Benign (0)
164-P Cytoplasmic regionArrhythmia (4)
165-A Cytoplasmic regionArrhythmia (1)
166-S Cytoplasmic regionArrhythmia (1)
167-K Cytoplasmic regionNone
168-Q Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
169-R Cytoplasmic regionArrhythmia (6)9 RYR1 - Central core disease, Malignant hyperthermia
173-E Cytoplasmic regionNone9 RYR1 - Central core disease
176-R Cytoplasmic regionNone9 RYR1 - Central core disease, Malignant hyperthermia ?
178-G Cytoplasmic regionArrhythmia (1)9 RYR1 - Malignant hyperthermia
179-D Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
185-S Cytoplasmic regionProb. Benign (0)
186-V Cytoplasmic regionArrhythmia (6)
189-E Cytoplasmic regionArrhythmia (4)
190-R Cytoplasmic regionNone6 RYR1 - Malignant hyperthermia
191-Y Cytoplasmic regionNone6 RYR1 - Malignant hyperthermia
199-G Cytoplasmic regionProb. Benign (0)
208-Q Cytoplasmic regionProb. Benign (0)
209-Q Cytoplasmic regionProb. Benign (0)
210-T Cytoplasmic regionProb. Benign (0)
217-I Cytoplasmic regionArrhythmia (4)
220-G Cytoplasmic regionNone
229-I Cytoplasmic regionProb. Benign (0)7 RYR1 - Malignant hyperthermia
230-G Cytoplasmic regionArrhythmia (3)9 RYR1 - Central core disease
233-V Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
235-R Cytoplasmic regionNone
240-H Cytoplasmic regionArrhythmia (3)
241-M Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
242-D Cytoplasmic regionArrhythmia (2)9 RYR1 - Malignant hyperthermia
243-E Cytoplasmic regionArrhythmia (2)
246-T Cytoplasmic regionProb. Benign (0)
248-P Cytoplasmic regionProb. Benign (0)
250-G Cytoplasmic regionProb. Benign (0)
257-R Cytoplasmic regionProb. Benign (0)
259-T Cytoplasmic regionProb. Benign (0)
263-E Cytoplasmic regionProb. Benign (0)
264-G Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
266-A Cytoplasmic regionProb. Benign (0)
267-V Cytoplasmic regionProb. Benign (0)
270-H Cytoplasmic regionProb. Benign (0)
271-A Cytoplasmic regionNone
272-R Cytoplasmic regionProb. Benign (0)
273-S Cytoplasmic regionNone
279-T Cytoplasmic regionProb. Benign (0)
280-L Cytoplasmic regionNone
289-I Cytoplasmic regionProb. Benign (0)
291-W Cytoplasmic regionProb. Benign (0)
293-Q Cytoplasmic regionProb. Benign (0)
294-P Cytoplasmic regionProb. Benign (0)
295-F Cytoplasmic regionProb. Benign (0)
298-R Cytoplasmic regionProb. Benign (0)
299-H Cytoplasmic regionProb. Benign (0)9 RYR1 - Ophthalmoplegia and malignant hyperthermia
309-M Cytoplasmic regionProb. Benign (0)
317-M Cytoplasmic regionProb. Benign (0)
318-D Cytoplasmic regionProb. Benign (0)
321-K Cytoplasmic regionNone
328-A Cytoplasmic regionProb. Benign (0)
329-F Cytoplasmic regionArrhythmia (3)
332-R Cytoplasmic regionArrhythmia (3)8 RYR1 - Malignant hyperthermia
333-S Cytoplasmic regionProb. Benign (0)
341-G Cytoplasmic regionProb. Benign (0)
342-V Cytoplasmic regionProb. Benign (0)
344-K Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
348-G Cytoplasmic regionProb. Benign (0)
355-K Cytoplasmic regionProb. Benign (0)
356-Y Cytoplasmic regionNone
357-G Cytoplasmic regionArrhythmia (3)9 RYR1 - Malignant hyperthermia
358-D Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
360-V Cytoplasmic regionProb. Benign (0)
361-C Cytoplasmic regionNone
364-Q Cytoplasmic regionProb. Benign (0)
372-L Cytoplasmic regionProb. Benign (0)
377-V Cytoplasmic regionBenign (1)
378-D Cytoplasmic regionProb. Benign (0)
379-V Cytoplasmic regionProb. Benign (0)
382-V Cytoplasmic regionProb. Benign (0)
383-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
385-G Cytoplasmic regionProb. Benign (0)
387-I Cytoplasmic regionProb. Benign (0)
388-Q Cytoplasmic regionProb. Benign (0)
389-R Cytoplasmic regionProb. Benign (0)
391-A Cytoplasmic regionProb. Benign (0)
392-I Cytoplasmic regionProb. Benign (0)
393-M Cytoplasmic regionProb. Benign (0)
395-H Cytoplasmic regionProb. Benign (0)
398-H Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia ?
399-M Cytoplasmic regionNone
400-D Cytoplasmic regionArrhythmia (2)
403-I Cytoplasmic regionProb. Benign (0)
406-S Cytoplasmic regionArrhythmia (3)
407-R Cytoplasmic regionArrhythmia (3)
413-S Cytoplasmic regionArrhythmia (2)
414-R Cytoplasmic regionArrhythmia (6)
415-T Cytoplasmic regionArrhythmia (6)
417-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
418-V Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
419-I Cytoplasmic regionArrhythmia (2)9 RYR1 - Central core disease
420-R Cytoplasmic regionArrhythmia (13)
424-F Cytoplasmic regionProb. Benign (0)
428-R Cytoplasmic regionProb. Benign (0)
433-L Cytoplasmic regionNone5 RYR1 - Myopathy, congenital
435-A Cytoplasmic regionProb. Benign (0)
440-A Cytoplasmic regionProb. Benign (0)
442-A Cytoplasmic regionProb. Benign (0)
446-D Cytoplasmic regionProb. Benign (0)
448-P Cytoplasmic regionProb. Benign (0)
449-I Cytoplasmic regionProb. Benign (0)
452-V Cytoplasmic regionProb. Benign (0)
453-S Cytoplasmic regionProb. Benign (0)
457-Q Cytoplasmic regionProb. Benign (0)
460-I Cytoplasmic regionProb. Benign (0)
461-G Cytoplasmic regionProb. Benign (0)
464-H Cytoplasmic regionProb. Benign (0)
466-P Cytoplasmic regionArrhythmia (4)
467-D Cytoplasmic regionProb. Benign (0)
469-H Cytoplasmic regionProb. Benign (0)
475-K Cytoplasmic regionProb. Benign (0)
476-Q Cytoplasmic regionNone7 RYR1 - Distal arthrogryposis type IIA
485-R Cytoplasmic regionNone
486-Q Cytoplasmic regionNone9 RYR1 - Central core disease
497-L Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
498-V Cytoplasmic regionProb. Benign (0)
499-L Cytoplasmic regionProb. Benign (0)
500-E Cytoplasmic regionProb. Benign (0)
502-I Cytoplasmic regionProb. Benign (0)
503-D Cytoplasmic regionProb. Benign (0)
504-R Cytoplasmic regionProb. Benign (1)9 RYR1 - Exertional heat illness
507-V Cytoplasmic regionBenign (1)
512-A Cytoplasmic regionProb. Benign (0)
520-R Cytoplasmic regionProb. Benign (1)
521-E Cytoplasmic regionProb. Benign (0)
524-E Cytoplasmic regionProb. Benign (0)9 RYR1 - Central core disease
527-K Cytoplasmic regionProb. Benign (0)
529-I Cytoplasmic regionProb. Benign (0)
534-Y Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
535-E Cytoplasmic regionNone
539-A Cytoplasmic regionProb. Benign (0)
542-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
545-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
547-N Cytoplasmic regionOther Cardiac (1)
549-A Cytoplasmic regionArrhythmia (3)9 RYR1 - Myopathy, congenital
551-F Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
555-L Cytoplasmic regionOther Cardiac (1)
556-D Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
559-I Cytoplasmic regionProb. Benign (0)
560-S Cytoplasmic regionProb. Benign (0)
564-R Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia, Peripheral neuropathy
565-L Cytoplasmic regionProb. Benign (0)
567-A Cytoplasmic regionProb. Benign (0)
571-I Cytoplasmic regionNone
576-H Cytoplasmic regionNone
586-L Cytoplasmic regionNone9 RYR1 - Myopathy, RYR1-associated
592-G Cytoplasmic regionNone
597-I Cytoplasmic regionProb. Benign (0)
608-H Cytoplasmic regionProb. Benign (0)
611-L Cytoplasmic regionNone
613-V Cytoplasmic regionProb. Benign (0)
615-C Cytoplasmic regionProb. Benign (0)
616-S Cytoplasmic regionArrhythmia (2)
617-L Cytoplasmic regionProb. Benign (0)
622-G Cytoplasmic regionProb. Benign (0)
624-A Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
626-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
634-D Cytoplasmic regionProb. Benign (0)
640-R Cytoplasmic regionNone
643-L Cytoplasmic regionProb. Benign (0)
646-T Cytoplasmic regionProb. Benign (0)
647-R Cytoplasmic regionBenign (0)
651-H Cytoplasmic regionProb. Benign (0)
656-R Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
658-N Cytoplasmic regionProb. Benign (0)
659-I Cytoplasmic regionProb. Benign (1)
663-V Cytoplasmic regionProb. Benign (0)
664-S Cytoplasmic regionProb. Benign (0)
669-Q Cytoplasmic regionProb. Benign (0)
670-Y Cytoplasmic regionProb. Benign (0)
675-Y Cytoplasmic regionProb. Benign (0)
677-L Cytoplasmic regionProb. Benign (0)
680-D Cytoplasmic regionProb. Benign (0)
682-T Cytoplasmic regionProb. Benign (0)
683-E Cytoplasmic regionProb. Benign (0)
684-P Cytoplasmic regionNone
694-R Cytoplasmic regionBenign (0)
701-E Cytoplasmic regionProb. Benign (0)
702-G Cytoplasmic regionProb. Benign (1)
708-G Cytoplasmic regionProb. Benign (0)
709-G Cytoplasmic regionProb. Benign (0)
713-W Cytoplasmic regionNone
717-G Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
719-G Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
720-D Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
721-D Cytoplasmic regionProb. Benign (0)
725-Y Cytoplasmic regionProb. Benign (0)
730-L Cytoplasmic regionProb. Benign (0)
738-A Cytoplasmic regionProb. Benign (0)
739-R Cytoplasmic regionArrhythmia (2)
740-T Cytoplasmic regionProb. Benign (0)
741-V Cytoplasmic regionProb. Benign (0)
742-S Cytoplasmic regionProb. Benign (0)
746-Q Cytoplasmic regionNone
747-H Cytoplasmic regionNone9 RYR1 - Myopathy, congenital, RYR1-related
748-L Cytoplasmic regionProb. Benign (0)
751-T Cytoplasmic regionNone
754-V Cytoplasmic regionProb. Benign (0)
756-S Cytoplasmic regionProb. Benign (1)
758-C Cytoplasmic regionProb. Benign (0)
759-L Cytoplasmic regionProb. Benign (0)
765-S Cytoplasmic regionProb. Benign (0)
767-S Cytoplasmic regionProb. Benign (0)
768-F Cytoplasmic regionProb. Benign (0)
769-R Cytoplasmic regionProb. Benign (1)
771-N Cytoplasmic regionNone9 RYR1 - Myopathy, RYR1-associated
774-P Cytoplasmic regionProb. Benign (0)
775-V Cytoplasmic regionProb. Benign (0)7 RYR1 - Muscular dystrophy
778-M Cytoplasmic regionProb. Benign (1)
781-N Cytoplasmic regionNone
783-N Cytoplasmic regionProb. Benign (0)
784-I Cytoplasmic regionNone
785-D Cytoplasmic regionProb. Benign (0)
786-G Cytoplasmic regionProb. Benign (0)
788-F Cytoplasmic regionProb. Benign (0)
792-V Cytoplasmic regionProb. Benign (0)
797-G Cytoplasmic regionProb. Benign (0)
798-I Cytoplasmic regionProb. Benign (0)
800-V Cytoplasmic regionNone
801-R Cytoplasmic regionProb. Benign (1)9 RYR1 - Myopathy, congenital
804-L Cytoplasmic regionProb. Benign (0)
806-G Cytoplasmic regionProb. Benign (0)
807-R Cytoplasmic regionProb. Benign (0)
808-H Cytoplasmic regionProb. Benign (0)
812-K Cytoplasmic regionProb. Benign (0)
813-F Cytoplasmic regionProb. Benign (0)
815-P Cytoplasmic regionProb. Benign (0)
817-P Cytoplasmic regionProb. Benign (0)
820-A Cytoplasmic regionProb. Benign (0)
822-C Cytoplasmic regionProb. Benign (0)
828-P Cytoplasmic regionProb. Benign (0)
832-L Cytoplasmic regionProb. Benign (0)
836-H Cytoplasmic regionProb. Benign (0)
837-S Cytoplasmic regionProb. Benign (0)
838-R Cytoplasmic regionProb. Benign (0)
841-K Cytoplasmic regionProb. Benign (0)
842-Q Cytoplasmic regionNone8 RYR1 - Rhabdomyolysis, exercise-induced
847-T Cytoplasmic regionNone
848-R Cytoplasmic regionProb. Benign (0)
849-D Cytoplasmic regionProb. Benign (0)
850-L Cytoplasmic regionNone9 RYR1 - Central core disease
853-P Cytoplasmic regionProb. Benign (0)
856-S Cytoplasmic regionProb. Benign (0)
857-L Cytoplasmic regionProb. Benign (0)
858-T Cytoplasmic regionProb. Benign (0)
863-T Cytoplasmic regionNone
867-V Cytoplasmic regionProb. Benign (0)
872-I Cytoplasmic regionProb. Benign (0)
873-V Cytoplasmic regionProb. Benign (0)
876-P Cytoplasmic regionProb. Benign (0)
877-H Cytoplasmic regionProb. Benign (0)
879-E Cytoplasmic regionProb. Benign (0)
880-R Cytoplasmic regionNone9 RYR1 - Central core disease
881-I Cytoplasmic regionProb. Benign (0)
882-R Cytoplasmic regionProb. Benign (0)
884-K Cytoplasmic regionProb. Benign (0)
886-A Cytoplasmic regionProb. Benign (0)
887-E Cytoplasmic regionProb. Benign (0)
889-I Cytoplasmic regionProb. Benign (0)
891-E Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
897-K Cytoplasmic regionNone9 RYR1 - Central core disease
900-L Cytoplasmic regionProb. Benign (0)
901-G Cytoplasmic regionOther Disease (1)
904-Y Cytoplasmic regionProb. Benign (0)
905-G Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
906-P Cytoplasmic regionProb. Benign (1)
919-V Cytoplasmic regionBenign (0)
921-F Cytoplasmic regionProb. Benign (0)
929-R Cytoplasmic regionNone
935-M Cytoplasmic regionNone
943-L Cytoplasmic regionProb. Benign (1)
945-A Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia & exertional rhabdomyolosis
950-V Cytoplasmic regionNone
951-G Cytoplasmic regionProb. Benign (0)
953-S Cytoplasmic regionProb. Benign (0)
954-D Cytoplasmic regionProb. Benign (0)
955-E Cytoplasmic regionProb. Benign (0)
961-V Cytoplasmic regionNone
970-Y Cytoplasmic regionProb. Benign (0)
973-T Cytoplasmic regionProb. Benign (0)
978-P Cytoplasmic regionProb. Benign (0)
979-A Cytoplasmic regionProb. Benign (1)
981-M Cytoplasmic regionProb. Benign (0)
984-S Cytoplasmic regionProb. Benign (0)
991-S Cytoplasmic regionProb. Benign (0)
993-E Cytoplasmic regionProb. Benign (0)
998-K Cytoplasmic regionProb. Benign (0)9 RYR1 - Myopathy, congenital
1000-A Cytoplasmic regionProb. Benign (0)
1001-E Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
1004-H Cytoplasmic regionProb. Benign (0)
1005-N Cytoplasmic regionProb. Benign (0)
1006-V Cytoplasmic regionProb. Benign (0)
1009-R Cytoplasmic regionProb. Benign (0)
1010-D Cytoplasmic regionProb. Benign (0)
1013-R Cytoplasmic regionConflict (8)
1017-T Cytoplasmic regionNone
1019-G Cytoplasmic regionProb. Benign (0)
1022-Q Cytoplasmic regionProb. Benign (0)
1024-V Cytoplasmic regionProb. Benign (0)
1025-K Cytoplasmic regionProb. Benign (0)
1027-R Cytoplasmic regionNone
1031-R Cytoplasmic regionProb. Benign (0)
1036-T Cytoplasmic regionProb. Benign (0)
1037-L Cytoplasmic regionProb. Benign (0)
1039-D Cytoplasmic regionProb. Benign (0)
1041-R Cytoplasmic regionProb. Benign (0)
1043-K Cytoplasmic regionNone
1044-K Cytoplasmic regionNone
1046-N Cytoplasmic regionProb. Benign (0)
1051-R Cytoplasmic regionArrhythmia (4)
1055-R Cytoplasmic regionProb. Benign (1)9 RYR1 - Malignant hyperthermia
1056-T Cytoplasmic regionProb. Benign (0)
1057-L Cytoplasmic regionProb. Benign (0)
1059-G Cytoplasmic regionProb. Benign (0)
1061-G Cytoplasmic regionProb. Benign (0)9 RYR1 - Myopathy, congenital
1068-D Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia
1070-D Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia
1073-A Cytoplasmic regionProb. Benign (0)
1076-E Cytoplasmic regionProb. Benign (0)
1077-V Cytoplasmic regionProb. Benign (0)
1080-G Cytoplasmic regionProb. Benign (0)
1082-G Cytoplasmic regionProb. Benign (0)
1084-R Cytoplasmic regionProb. Benign (0)
1089-R Cytoplasmic regionProb. Benign (0)8 RYR1 - Myopathy, congenital
1091-E Cytoplasmic regionProb. Benign (0)
1096-V Cytoplasmic regionProb. Benign (0)
1099-G Cytoplasmic regionProb. Benign (0)
1100-R Cytoplasmic regionProb. Benign (0)
1102-Y Cytoplasmic regionNone9 RYR1 - Samaritan myopathy
1107-T Cytoplasmic regionConflict (3)
1111-G Cytoplasmic regionProb. Benign (0)
1119-R Cytoplasmic regionProb. Benign (1)
1121-G Cytoplasmic regionProb. Benign (0)
1124-P Cytoplasmic regionProb. Benign (0)
1127-E Cytoplasmic regionNone
1133-R Cytoplasmic regionProb. Benign (0)
1134-A Cytoplasmic regionNone
1135-F Cytoplasmic regionNone8 RYR1 - Myopathy, congenital
1136-A Cytoplasmic regionConflict (8)
1141-K Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia equivocal with halotane
1142-A Cytoplasmic regionNone
1144-R Cytoplasmic regionProb. Benign (0)
1150-E Cytoplasmic regionProb. Benign (0)
1154-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
1161-V Cytoplasmic regionProb. Benign (1)
1162-V Cytoplasmic regionProb. Benign (0)
1164-C Cytoplasmic regionNone9 RYR1 - Arthrogryposis multiplex congenita with axoglial d
1166-V Cytoplasmic regionNone
1168-M Cytoplasmic regionProb. Benign (0)
1170-E Cytoplasmic regionProb. Benign (0)
1171-H Cytoplasmic regionProb. Benign (0)
1172-T Cytoplasmic regionProb. Benign (0)
1173-M Cytoplasmic regionProb. Benign (0)
1179-G Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
1189-E Cytoplasmic regionProb. Benign (0)7 RYR1 - Congenital myopathy
1193-K Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
1199-D Cytoplasmic regionProb. Benign (1)
1208-G Cytoplasmic regionProb. Benign (0)
1209-V Cytoplasmic regionNone
1213-G Cytoplasmic regionProb. Benign (0)
1214-R Cytoplasmic regionProb. Benign (0)
1219-K Cytoplasmic regionNone
1220-D Cytoplasmic regionProb. Benign (0)
1223-T Cytoplasmic regionArrhythmia (1)
1224-L Cytoplasmic regionProb. Benign (0)
1226-Y Cytoplasmic regionProb. Benign (0)
1232-L Cytoplasmic regionProb. Benign (0)
1233-Q Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
1235-G Cytoplasmic regionProb. Benign (0)
1241-V Cytoplasmic regionProb. Benign (0)
1246-D Cytoplasmic regionProb. Benign (0)
1252-S Cytoplasmic regionProb. Benign (0)
1254-R Cytoplasmic regionProb. Benign (0)
1256-P Cytoplasmic regionArrhythmia (1)
1261-V Cytoplasmic regionProb. Benign (0)
1267-H Cytoplasmic regionProb. Benign (0)
1268-I Cytoplasmic regionArrhythmia (1)
1269-E Cytoplasmic regionProb. Benign (0)
1275-G Cytoplasmic regionProb. Benign (0)
1276-T Cytoplasmic regionProb. Benign (0)
1277-I Cytoplasmic regionProb. Benign (0)
1279-S Cytoplasmic regionProb. Benign (0)
1280-S Cytoplasmic regionProb. Benign (0)
1281-P Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
1286-T Cytoplasmic regionNone9 RYR3 - Hyperinsulinism
1295-S Cytoplasmic regionProb. Benign (0)
1296-N Cytoplasmic regionProb. Benign (0)
1297-T Cytoplasmic regionProb. Benign (0)
1299-I Cytoplasmic regionProb. Benign (0)
1300-M Cytoplasmic regionProb. Benign (0)
1301-F Cytoplasmic regionProb. Benign (0)
1303-R Cytoplasmic regionProb. Benign (0)
1306-M Cytoplasmic regionProb. Benign (0)
1307-P Cytoplasmic regionNone5 RYR1 - Myopathy, congenital
1311-A Cytoplasmic regionProb. Benign (0)
1317-T Cytoplasmic regionProb. Benign (0)
1318-V Cytoplasmic regionProb. Benign (0)
1319-A Cytoplasmic regionProb. Benign (0)
1322-L Cytoplasmic regionProb. Benign (0)
1324-G Cytoplasmic regionProb. Benign (0)
1329-G Cytoplasmic regionProb. Benign (0)
1330-P Cytoplasmic regionProb. Benign (0)
1331-K Cytoplasmic regionProb. Benign (0)
1333-D Cytoplasmic regionProb. Benign (0)
1335-E Cytoplasmic regionProb. Benign (0)
1337-Y Cytoplasmic regionProb. Benign (0)
1340-D Cytoplasmic regionProb. Benign (0)
1341-S Cytoplasmic regionProb. Benign (0)
1347-M Cytoplasmic regionProb. Benign (0)
1350-A Cytoplasmic regionProb. Benign (0)
1354-L Cytoplasmic regionNone2 RYR1 - Myopathy, congenital
1357-D Cytoplasmic regionProb. Benign (1)
1358-R Cytoplasmic regionProb. Benign (0)
1359-V Cytoplasmic regionProb. Benign (0)
1360-D Cytoplasmic regionProb. Benign (0)
1364-E Cytoplasmic regionNone2 RYR1 - Malignant hyperthermia, Rhabdomyolysis episodes
1365-A Cytoplasmic regionProb. Benign (0)
1366-T Cytoplasmic regionProb. Benign (0)
1372-N Cytoplasmic regionProb. Benign (0)
1382-S Cytoplasmic regionProb. Benign (0)
1383-R Cytoplasmic regionProb. Benign (0)
1388-F Cytoplasmic regionNone1 RYR1 - Malignant hyperthermia
1397-Y Cytoplasmic regionProb. Benign (0)
1399-T Cytoplasmic regionProb. Benign (0)
1400-S Cytoplasmic regionBenign (0)
1410-L Cytoplasmic regionNone
1414-R Cytoplasmic regionProb. Benign (0)
1417-Y Cytoplasmic regionProb. Benign (0)
1421-M Cytoplasmic regionProb. Benign (0)
1423-T Cytoplasmic regionProb. Benign (0)
1425-T Cytoplasmic regionProb. Benign (0)
1431-R Cytoplasmic regionProb. Benign (0)
1432-I Cytoplasmic regionProb. Benign (0)
1438-P Cytoplasmic regionProb. Benign (0)
1441-V Cytoplasmic regionProb. Benign (0)
1447-T Cytoplasmic regionProb. Benign (0)
1454-D Cytoplasmic regionProb. Benign (0)
1461-R Cytoplasmic regionNone6 RYR1 - Malignant hyperthermia equivocal with halotane
1462-V Cytoplasmic regionProb. Benign (0)
1463-R Cytoplasmic regionProb. Benign (0)7 RYR1 - Myopathy, congenital
1465-V Cytoplasmic regionProb. Benign (0)
1466-T Cytoplasmic regionProb. Benign (0)
1478-E Cytoplasmic regionProb. Benign (0)
1482-R Cytoplasmic regionProb. Benign (0)
1486-Y Cytoplasmic regionProb. Benign (0)
1489-C Cytoplasmic regionOther Cardiac (2)
1497-G Cytoplasmic regionProb. Benign (0)
1498-Q Cytoplasmic regionProb. Benign (0)
1500-R Cytoplasmic regionProb. Benign (0)
1501-N Cytoplasmic regionNone
1502-N Cytoplasmic regionProb. Benign (0)
1503-N Cytoplasmic regionNone
1505-L Cytoplasmic regionNone8 RYR1 - Myopathy, congenital
1509-C Cytoplasmic regionProb. Benign (0)
1512-D Cytoplasmic regionProb. Benign (0)
1514-A Cytoplasmic regionProb. Benign (0)
1515-S Cytoplasmic regionNone9 RYR1 - Lethal multiple pterygium syndrome
1518-L Cytoplasmic regionArrhythmia (1)
1526-E Cytoplasmic regionProb. Benign (0)
1529-T Cytoplasmic regionProb. Benign (0)
1541-P Cytoplasmic regionProb. Benign (0)
1551-N Cytoplasmic regionArrhythmia (2)
1559-R Cytoplasmic regionProb. Benign (0)
1560-I Cytoplasmic regionProb. Benign (0)
1563-V Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
1564-M Cytoplasmic regionProb. Benign (0)
1565-P Cytoplasmic regionNone9 RYR1 - Nemaline myopathy
1567-S Cytoplasmic regionProb. Benign (0)
1569-G Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
1572-K Cytoplasmic regionProb. Benign (0)
1573-S Cytoplasmic regionProb. Benign (0)
1575-H Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
1578-P Cytoplasmic regionProb. Benign (0)
1579-V Cytoplasmic regionProb. Benign (0)
1580-P Cytoplasmic regionProb. Benign (0)
1581-Q Cytoplasmic regionOther Cardiac (1)
1582-C Cytoplasmic regionProb. Benign (0)
1583-P Cytoplasmic regionNone
1584-P Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
1585-R Cytoplasmic regionProb. Benign (0)
1587-H Cytoplasmic regionNone
1590-F Cytoplasmic regionProb. Benign (0)
1594-V Cytoplasmic regionNone
1596-W Cytoplasmic regionProb. Benign (0)
1598-R Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
1600-P Cytoplasmic regionProb. Benign (0)
1601-N Cytoplasmic regionProb. Benign (0)
1610-R Cytoplasmic regionProb. Benign (0)
1611-I Cytoplasmic regionProb. Benign (0)
1614-R Cytoplasmic regionProb. Benign (0)
1617-W Cytoplasmic regionProb. Benign (0)
1618-L Cytoplasmic regionProb. Benign (0)
1625-L Cytoplasmic regionProb. Benign (0)
1628-M Cytoplasmic regionProb. Benign (0)
1631-H Cytoplasmic regionNone
1632-I Cytoplasmic regionProb. Benign (0)
1638-S Cytoplasmic regionNone
1640-D Cytoplasmic regionNone
1650-L Cytoplasmic regionProb. Benign (0)
1653-F Cytoplasmic regionProb. Benign (0)
1658-L Cytoplasmic regionProb. Benign (0)
1664-V Cytoplasmic regionProb. Benign (0)
1665-C Cytoplasmic regionNone9 RYR1 - Myopathy, RYR1-associated
1669-N Cytoplasmic regionProb. Benign (0)9 RYR1 - Myopathy, congenital
1671-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
1674-H Cytoplasmic regionProb. Benign (0)
1682-E Cytoplasmic regionProb. Benign (0)
1686-L Cytoplasmic regionArrhythmia (1)
1687-Y Cytoplasmic regionProb. Benign (0)
1689-I Cytoplasmic regionProb. Benign (0)
1693-Y Cytoplasmic regionNone
1696-G Cytoplasmic regionNone9 RYR1 - Myopathy, congenital with cores
1699-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Myopathy, RYR1-associated
1701-G Cytoplasmic regionProb. Benign (1)
1705-L Cytoplasmic regionProb. Benign (0)
1709-I Cytoplasmic regionProb. Benign (0)
1716-T Cytoplasmic regionProb. Benign (0)
1717-A Cytoplasmic regionProb. Benign (0)
1718-R Cytoplasmic regionProb. Benign (0)
1719-L Cytoplasmic regionProb. Benign (0)
1720-M Cytoplasmic regionProb. Benign (0)6 RYR1 - Malignant hyperthermia
1721-M Cytoplasmic regionNone6 RYR1 - Malignant hyperthermia
1724-E Cytoplasmic regionArrhythmia (3)9 RYR1 - Central core disease
1726-I Cytoplasmic regionProb. Benign (0)
1730-T Cytoplasmic regionProb. Benign (0)
1733-T Cytoplasmic regionProb. Benign (0)
1735-S Cytoplasmic regionNone
1736-I Cytoplasmic regionProb. Benign (0)
1742-E Cytoplasmic regionProb. Benign (0)
1752-G Cytoplasmic regionProb. Benign (0)
1754-S Cytoplasmic regionProb. Benign (1)
1756-S Cytoplasmic regionNone
1758-R Cytoplasmic regionNone8 RYR1 - Myopathy, RYR1-associated
1760-R Cytoplasmic regionArrhythmia (1)
1762-Q Cytoplasmic regionProb. Benign (0)
1765-S Cytoplasmic regionOther Cardiac (2)
1767-S Cytoplasmic regionProb. Benign (0)
1768-F Cytoplasmic regionProb. Benign (0)
1769-V Cytoplasmic regionProb. Benign (0)
1779-S Cytoplasmic regionProb. Benign (0)
1786-I Cytoplasmic regionProb. Benign (0)
1788-K Cytoplasmic regionProb. Benign (0)
1792-I Cytoplasmic regionNone
1794-M Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
1795-L Cytoplasmic regionProb. Benign (0)
1796-T Cytoplasmic regionProb. Benign (0)
1802-G Cytoplasmic regionProb. Benign (0)
1803-S Cytoplasmic regionProb. Benign (0)
1804-L Cytoplasmic regionProb. Benign (0)
1805-H Cytoplasmic regionProb. Benign (0)
1806-A Cytoplasmic regionProb. Benign (0)
1807-R Cytoplasmic regionProb. Benign (0)
1808-D Cytoplasmic regionProb. Benign (0)
1810-V Cytoplasmic regionArrhythmia (3)
1817-L Cytoplasmic regionProb. Benign (0)8 RYR1 - Myopathy, congenital
1825-F Cytoplasmic regionProb. Benign (0)
1829-L Cytoplasmic regionNone
1830-I Cytoplasmic regionProb. Benign (0)
1832-G Cytoplasmic regionProb. Benign (0)
1837-E Cytoplasmic regionArrhythmia (2)
1838-D Cytoplasmic regionProb. Benign (0)
1845-L Cytoplasmic regionProb. Benign (0)
1848-P Cytoplasmic regionProb. Benign (0)
1851-F Cytoplasmic regionProb. Benign (0)
1857-P Cytoplasmic regionProb. Benign (0)
1858-E Cytoplasmic regionProb. Benign (0)
1859-E Cytoplasmic regionProb. Benign (0)
1863-T Cytoplasmic regionProb. Benign (0)
1865-E Cytoplasmic regionProb. Benign (0)
1867-E Cytoplasmic regionProb. Benign (0)
1868-L Cytoplasmic regionProb. Benign (0)
1872-D Cytoplasmic regionOther Cardiac (1)
1880-E Cytoplasmic regionNone
1881-E Cytoplasmic regionProb. Benign (0)
1882-E Cytoplasmic regionProb. Benign (0)
1884-K Cytoplasmic regionProb. Benign (0)
1885-G Cytoplasmic regionConflict (9)
1886-G Cytoplasmic regionBenign (2)
1888-R Cytoplasmic regionNone
1894-L Cytoplasmic regionProb. Benign (1)
1895-Q Cytoplasmic regionProb. Benign (0)
1906-M Cytoplasmic regionProb. Benign (0)
1911-Q Cytoplasmic regionNone
1917-Q Cytoplasmic regionProb. Benign (0)
1919-R Cytoplasmic regionProb. Benign (0)
1921-R Cytoplasmic regionProb. Benign (0)
1922-I Cytoplasmic regionProb. Benign (0)
1924-A Cytoplasmic regionProb. Benign (0)7 RYR1 - Multi-minicore disease ?
1925-I Cytoplasmic regionProb. Benign (0)
1931-D Cytoplasmic regionProb. Benign (0)
1934-A Cytoplasmic regionProb. Benign (0)
1941-R Cytoplasmic regionProb. Benign (0)
1942-F Cytoplasmic regionProb. Benign (0)
1946-E Cytoplasmic regionProb. Benign (0)
1955-A Cytoplasmic regionProb. Benign (0)
1960-R Cytoplasmic regionNone
1961-K Cytoplasmic regionProb. Benign (0)
1964-E Cytoplasmic regionNone9 RYR1 - Fetal hypokinesia
1973-I Cytoplasmic regionProb. Benign (0)
1974-N Cytoplasmic regionProb. Benign (0)
1975-M Cytoplasmic regionProb. Benign (0)
1978-N Cytoplasmic regionProb. Benign (0)
1980-K Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
1982-D Cytoplasmic regionProb. Benign (0)
1991-E Cytoplasmic regionProb. Benign (0)
1993-R Cytoplasmic regionProb. Benign (0)
2000-H Cytoplasmic regionProb. Benign (0)7 RYR1 - Fibre type disproportion, congenital
2005-T Cytoplasmic regionProb. Benign (0)
2016-S Cytoplasmic regionProb. Benign (0)
2018-D Cytoplasmic regionProb. Benign (0)
2019-G Cytoplasmic regionProb. Benign (0)
2026-R Cytoplasmic regionProb. Benign (0)
2031-S Cytoplasmic regionProb. Benign (0)
2035-K Cytoplasmic regionProb. Benign (0)
2039-L Cytoplasmic regionProb. Benign (0)
2042-K Cytoplasmic regionProb. Benign (0)
2045-E Cytoplasmic regionArrhythmia (2)
2050-S Cytoplasmic regionProb. Benign (0)
2051-D Cytoplasmic regionProb. Benign (0)
2053-K Cytoplasmic regionProb. Benign (0)
2055-S Cytoplasmic regionProb. Benign (0)
2062-I Cytoplasmic regionProb. Benign (0)
2066-M Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2067-V Cytoplasmic regionProb. Benign (0)
2068-R Cytoplasmic regionNone
2074-V Cytoplasmic regionProb. Benign (0)
2075-I Cytoplasmic regionOther Cardiac (1)
2078-P Cytoplasmic regionProb. Benign (0)
2079-E Cytoplasmic regionProb. Benign (0)
2081-V Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia
2082-R Cytoplasmic regionProb. Benign (0)8 RYR1 - Centronuclear myopathy
2085-F Cytoplasmic regionProb. Benign (0)
2093-D Cytoplasmic regionProb. Benign (0)8 RYR1 - Exertional myalgia and/or rhabdomyolysis, Malignant hyperthermia
2094-G Cytoplasmic regionProb. Benign (0)8 RYR1 - Malignant hyperthermia
2095-I Cytoplasmic regionProb. Benign (0)
2096-G Cytoplasmic regionNone8 RYR1 - Exertional myalgia and/or rhabdomyolysis
2099-V Cytoplasmic regionProb. Benign (0)
2100-R Cytoplasmic regionProb. Benign (0)
2107-T Cytoplasmic regionProb. Benign (0)
2111-V Cytoplasmic regionProb. Benign (0)
2112-S Cytoplasmic regionNone7 RYR1 - Muscular dystrophy
2113-V Cytoplasmic regionConflict (5)
2114-E Cytoplasmic regionProb. Benign (0)
2116-T Cytoplasmic regionProb. Benign (0)
2119-L Cytoplasmic regionProb. Benign (0)
2124-G Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia & exertional rhabdomyolosis
2127-R Cytoplasmic regionArrhythmia (1)9 RYR1 - Malignant hyperthermia
2132-V Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2144-R Cytoplasmic regionProb. Benign (0)
2145-G Cytoplasmic regionProb. Benign (0)
2146-L Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
2149-I Cytoplasmic regionProb. Benign (0)
2150-M Cytoplasmic regionNone
2152-N Cytoplasmic regionProb. Benign (0)
2153-K Cytoplasmic regionOther Disease (1)
2156-Y Cytoplasmic regionProb. Benign (1)
2164-A Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2168-H Cytoplasmic regionArrhythmia (3)9 RYR1 - Multiminicore/minicore/multicore disease
2170-T Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2172-M Cytoplasmic regionNone
2173-E Cytoplasmic regionProb. Benign (0)
2174-V Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2175-M Cytoplasmic regionNone
2176-V Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2178-V Cytoplasmic regionOther Cardiac (2)9 RYR1 - Malignant hyperthermia
2179-L Cytoplasmic regionNone
2183-E Cytoplasmic regionProb. Benign (1)
2188-T Cytoplasmic regionProb. Benign (0)
2191-K Cytoplasmic regionNone
2192-M Cytoplasmic regionArrhythmia (1)
2198-R Cytoplasmic regionProb. Benign (0)
2200-L Cytoplasmic regionNone
2201-C Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2205-R Cytoplasmic regionProb. Benign (0)
2212-K Cytoplasmic regionArrhythmia (2)9 RYR1 - Malignant hyperthermia
2213-A Cytoplasmic regionNone
2216-D Cytoplasmic regionArrhythmia (2)
2217-H Cytoplasmic regionArrhythmia (2)7 RYR1 - Malignant hyperthermia
2219-S Cytoplasmic regionProb. Benign (0)
2224-N Cytoplasmic regionProb. Benign (0)
2225-S Cytoplasmic regionProb. Benign (0)
2228-G Cytoplasmic regionArrhythmia (2)
2230-A Cytoplasmic regionNone
2233-A Cytoplasmic regionProb. Benign (0)
2241-D Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
2246-S Cytoplasmic regionArrhythmia (10)
2247-V Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2250-N Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
2253-L Cytoplasmic regionNone
2254-A Cytoplasmic regionArrhythmia (4)
2255-L Cytoplasmic regionNone9 RYR1 - Central core disease
2258-R Cytoplasmic regionProb. Benign (0)
2260-P Cytoplasmic regionProb. Benign (0)
2262-L Cytoplasmic regionProb. Benign (0)
2267-R Cytoplasmic regionOther Cardiac (2)
2271-G Cytoplasmic regionProb. Benign (0)
2277-C Cytoplasmic regionNone
2288-I Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
2295-G Cytoplasmic regionProb. Benign (0)
2296-E Cytoplasmic regionArrhythmia (2)
2303-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia, Myopathy, congenital
2306-V Cytoplasmic regionArrhythmia (3)
2307-F Cytoplasmic regionArrhythmia (2)9 RYR1 - Central core disease
2308-C Cytoplasmic regionProb. Benign (0)9 RYR3 - Schizophrenia
2309-N Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2311-E Cytoplasmic regionArrhythmia (2)8 RYR1 - Malignant hyperthermia ?
2312-S Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia
2313-V Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2314-E Cytoplasmic regionNone
2315-E Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2317-A Cytoplasmic regionArrhythmia (2)9 RYR1 - Malignant hyperthermia
2321-V Cytoplasmic regionOther Cardiac (3)9 RYR1 - Malignant hyperthermia
2322-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2326-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
2328-P Cytoplasmic regionArrhythmia (4)
2329-E Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2331-F Cytoplasmic regionArrhythmia (2)9 RYR1 - Malignant hyperthermia
2332-G Cytoplasmic regionProb. Benign (0)9 RYR1 - Centronuclear myopathy
2333-P Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
2334-A Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2337-G Cytoplasmic regionArrhythmia (2)
2338-E Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
2339-G Cytoplasmic regionNone
2342-G Cytoplasmic regionArrhythmia (1)9 RYR1 - Malignant hyperthermia
2345-A Cytoplasmic regionProb. Benign (0)
2347-M Cytoplasmic regionProb. Benign (0)
2353-I Cytoplasmic regionProb. Benign (0)
2354-A Cytoplasmic regionProb. Benign (0)
2355-E Cytoplasmic regionProb. Benign (0)
2359-R Cytoplasmic regionArrhythmia (2)
2360-D Cytoplasmic regionProb. Benign (0)
2364-P Cytoplasmic regionProb. Benign (0)
2365-N Cytoplasmic regionProb. Benign (0)
2367-G Cytoplasmic regionNone
2370-K Cytoplasmic regionProb. Benign (0)4 RYR1 - Malignant hyperthermia
2371-T Cytoplasmic regionProb. Benign (0)
2372-L Cytoplasmic regionProb. Benign (0)
2373-D Cytoplasmic regionProb. Benign (0)
2375-E Cytoplasmic regionProb. Benign (0)
2386-N Cytoplasmic regionNone
2387-A Cytoplasmic regionArrhythmia (8)9 RYR1 - Myopathy, congenital with cores
2389-M Cytoplasmic regionProb. Benign (1)9 RYR1 - Multi-minicore disease
2390-T Cytoplasmic regionArrhythmia (2)
2392-Y Cytoplasmic regionArrhythmia (2)5 RYR1 - Exertional myalgia and/or rhabdomyolysis
2394-A Cytoplasmic regionArrhythmia (2)9 RYR1 - Malignant hyperthermia
2395-L Cytoplasmic regionProb. Benign (0)
2397-D Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2400-G Cytoplasmic regionArrhythmia (1)9 RYR1 - Malignant hyperthermia
2401-R Cytoplasmic regionArrhythmia (8)9 RYR1 - Central core disease
2402-C Cytoplasmic regionArrhythmia (2)
2403-A Cytoplasmic regionArrhythmia (4)9 RYR1 - Malignant hyperthermia
2404-P Cytoplasmic regionArrhythmia (3)
2405-E Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2411-A Cytoplasmic regionProb. Benign (0)
2412-G Cytoplasmic regionProb. Benign (0)
2418-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2419-I Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2420-R Cytoplasmic regionArrhythmia (3)9 RYR1 - Malignant hyperthermia
2424-R Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia
2426-L Cytoplasmic regionProb. Benign (0)
2428-P Cytoplasmic regionProb. Benign (0)
2433-V Cytoplasmic regionProb. Benign (0)
2435-V Cytoplasmic regionProb. Benign (0)
2438-I Cytoplasmic regionProb. Benign (0)
2439-A Cytoplasmic regionProb. Benign (1)
2441-Q Cytoplasmic regionProb. Benign (0)
2451-V Cytoplasmic regionProb. Benign (0)
2452-V Cytoplasmic regionProb. Benign (0)
2458-A Cytoplasmic regionProb. Benign (0)
2461-C Cytoplasmic regionProb. Benign (0)
2462-P Cytoplasmic regionNone7 RYR1 - Malignant hyperthermia
2468-M Cytoplasmic regionProb. Benign (0)
2474-R Cytoplasmic regionArrhythmia (8)9 RYR1 - Central core disease
2475-V Cytoplasmic regionArrhythmia (4)
2476-Y Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2480-V Cytoplasmic regionProb. Benign (0)
2483-F Cytoplasmic regionArrhythmia (3)
2485-L Cytoplasmic regionProb. Benign (0)
2486-H Cytoplasmic regionProb. Benign (0)
2487-L Cytoplasmic regionProb. Benign (1)
2490-V Cytoplasmic regionNone
2492-F Cytoplasmic regionProb. Benign (0)
2493-L Cytoplasmic regionNone
2495-D Cytoplasmic regionNone9 RYR1 - Nemaline myopathy
2498-A Cytoplasmic regionArrhythmia (3)
2499-A Cytoplasmic regionProb. Benign (0)
2501-S Cytoplasmic regionProb. Benign (0)
2504-T Cytoplasmic regionNone
2510-T Cytoplasmic regionArrhythmia (2)
2511-D Cytoplasmic regionProb. Benign (0)9 RYR1 - Central core disease
2512-M Cytoplasmic regionProb. Benign (0)
2516-L Cytoplasmic regionProb. Benign (0)
2518-R Cytoplasmic regionProb. Benign (0)
2520-L Cytoplasmic regionProb. Benign (0)
2522-T Cytoplasmic regionProb. Benign (0)
2525-L Cytoplasmic regionProb. Benign (0)
2530-R Cytoplasmic regionNone9 RYR1 - Sensory and autonomic neuropathy type I with malig
2533-P Cytoplasmic regionArrhythmia (1)
2534-L Cytoplasmic regionArrhythmia (2)
2536-A Cytoplasmic regionNone9 RYR1 - Muscular dystrophy & congenital myopathy
2538-T Cytoplasmic regionProb. Benign (0)
2540-H Cytoplasmic regionProb. Benign (0)
2541-H Cytoplasmic regionProb. Benign (0)
2542-A Cytoplasmic regionProb. Benign (1)
2543-S Cytoplasmic regionProb. Benign (0)
2545-I Cytoplasmic regionProb. Benign (0)
2552-V Cytoplasmic regionProb. Benign (0)
2553-Y Cytoplasmic regionNone9 RYR1 - Central core disease
2557-K Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2559-C Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2562-T Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2564-A Cytoplasmic regionProb. Benign (0)
2566-R Cytoplasmic regionProb. Benign (0)
2567-D Cytoplasmic regionProb. Benign (0)
2569-I Cytoplasmic regionProb. Benign (0)
2570-E Cytoplasmic regionProb. Benign (0)
2572-C Cytoplasmic regionProb. Benign (0)
2581-R Cytoplasmic regionNone9 RYR1 - Myopathy, progressive, early-onset
2582-P Cytoplasmic regionProb. Benign (0)
2584-M Cytoplasmic regionProb. Benign (1)
2592-L Cytoplasmic regionProb. Benign (0)
2593-V Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
2600-N Cytoplasmic regionProb. Benign (0)
2603-A Cytoplasmic regionProb. Benign (0)
2605-M Cytoplasmic regionArrhythmia (2)
2607-L Cytoplasmic regionOther Cardiac (1)
2619-K Cytoplasmic regionNone
2628-G Cytoplasmic regionArrhythmia (1)
2631-G Cytoplasmic regionProb. Benign (0)
2639-H Cytoplasmic regionProb. Benign (0)
2642-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Multi-minicore disease
2643-K Cytoplasmic regionProb. Benign (0)
2645-F Cytoplasmic regionProb. Benign (0)
2646-W Cytoplasmic regionProb. Benign (0)
2647-G Cytoplasmic regionProb. Benign (0)
2652-L Cytoplasmic regionProb. Benign (0)
2657-Y Cytoplasmic regionProb. Benign (0)
2664-L Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia ?
2665-A Cytoplasmic regionProb. Benign (0)
2666-L Cytoplasmic regionProb. Benign (0)
2673-A Cytoplasmic regionNone
2675-A Cytoplasmic regionProb. Benign (0)
2680-Y Cytoplasmic regionProb. Benign (0)
2681-M Cytoplasmic regionProb. Benign (0)
2683-S Cytoplasmic regionProb. Benign (0)
2687-S Cytoplasmic regionProb. Benign (0)
2690-E Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia ?
2692-Q Cytoplasmic regionProb. Benign (0)
2696-D Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia
2699-G Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
2703-P Cytoplasmic regionProb. Benign (0)
2710-N Cytoplasmic regionNone
2715-E Cytoplasmic regionProb. Benign (0)
2716-K Cytoplasmic regionProb. Benign (0)
2720-F Cytoplasmic regionProb. Benign (0)
2721-I Cytoplasmic regionConflict (2)
2730-D Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia
2735-D Cytoplasmic regionProb. Benign (0)
2742-I Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia, susceptibility to ?
2743-Y Cytoplasmic regionProb. Benign (0)
2746-I Cytoplasmic regionProb. Benign (0)
2750-S Cytoplasmic regionProb. Benign (0)
2751-S Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia ?
2753-V Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
2754-Q Cytoplasmic regionProb. Benign (0)
2757-M Cytoplasmic regionProb. Benign (0)
2758-K Cytoplasmic regionProb. Benign (1)
2770-I Cytoplasmic regionNone
2772-R Cytoplasmic regionProb. Benign (0)
2781-T Cytoplasmic regionProb. Benign (0)
2793-R Cytoplasmic regionProb. Benign (0)
2803-R Cytoplasmic regionProb. Benign (0)
2806-R Cytoplasmic regionNone
2808-S Cytoplasmic regionNone3 RYR1 - Malignant hyperthermia
2809-Q Cytoplasmic regionNone
2811-S Cytoplasmic regionNone2 RYR1 - Malignant hyperthermia ?
2812-Q Cytoplasmic regionProb. Benign (0)
2815-V Cytoplasmic regionProb. Benign (0)
2817-A Cytoplasmic regionProb. Benign (0)
2818-A Cytoplasmic regionNone
2819-H Cytoplasmic regionProb. Benign (0)
2824-R Cytoplasmic regionArrhythmia (1)
2826-I Cytoplasmic regionProb. Benign (0)
2829-S Cytoplasmic regionProb. Benign (0)
2833-L Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia
2836-D Cytoplasmic regionProb. Benign (0)
2846-E Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
2851-I Cytoplasmic regionProb. Benign (0)
2859-E Cytoplasmic regionProb. Benign (0)
2861-E Cytoplasmic regionProb. Benign (0)
2863-K Cytoplasmic regionProb. Benign (0)
2869-P Cytoplasmic regionProb. Benign (0)
2877-L Cytoplasmic regionProb. Benign (0)
2886-R Cytoplasmic regionProb. Benign (0)
2887-E Cytoplasmic regionProb. Benign (0)
2888-K Cytoplasmic regionProb. Benign (0)
2905-R Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
2906-G Cytoplasmic regionProb. Benign (0)
2914-T Cytoplasmic regionProb. Benign (0)
2920-R Cytoplasmic regionProb. Benign (0)
2929-L Cytoplasmic regionNone5 RYR1 - Myopathy, congenital
2931-R Cytoplasmic regionProb. Benign (0)
2932-Y Cytoplasmic regionNone
2933-V Cytoplasmic regionProb. Benign (0)
2934-D Cytoplasmic regionProb. Benign (0)
2936-A Cytoplasmic regionProb. Benign (0)
2939-Y Cytoplasmic regionProb. Benign (0)
2946-G Cytoplasmic regionProb. Benign (0)
2950-K Cytoplasmic regionProb. Benign (0)
2952-E Cytoplasmic regionProb. Benign (0)
2958-Q Cytoplasmic regionConflict (6)
2959-E Cytoplasmic regionProb. Benign (0)
2960-I Cytoplasmic regionProb. Benign (0)
2962-F Cytoplasmic regionProb. Benign (0)
2965-K Cytoplasmic regionProb. Benign (0)
2966-V Cytoplasmic regionProb. Benign (0)
2978-H Cytoplasmic regionProb. Benign (0)
2979-R Cytoplasmic regionProb. Benign (0)
2981-Y Cytoplasmic regionNone8 RYR1 - Myopathy, congenital
2985-A Cytoplasmic regionProb. Benign (0)
2986-A Cytoplasmic regionProb. Benign (0)9 RYR1 - Myopathy, congenital
2987-S Cytoplasmic regionProb. Benign (0)
2988-R Cytoplasmic regionProb. Benign (0)
2990-L Cytoplasmic regionProb. Benign (0)
3011-L Cytoplasmic regionProb. Benign (0)
3017-H Cytoplasmic regionProb. Benign (0)
3018-R Cytoplasmic regionProb. Benign (0)
3029-I Cytoplasmic regionProb. Benign (0)
3032-C Cytoplasmic regionProb. Benign (0)
3039-T Cytoplasmic regionNone7 RYR1 - Foetal akinesia syndrome
3042-A Cytoplasmic regionNone
3044-T Cytoplasmic regionProb. Benign (0)
3046-M Cytoplasmic regionNone9 RYR1 - Myopathy, congenital ?
3054-K Cytoplasmic regionNone
3061-L Cytoplasmic regionProb. Benign (0)
3062-D Cytoplasmic regionProb. Benign (0)
3064-A Cytoplasmic regionProb. Benign (0)
3069-E Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia
3072-M Cytoplasmic regionProb. Benign (0)
3076-K Cytoplasmic regionProb. Benign (0)
3083-T Cytoplasmic regionProb. Benign (0)
3084-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
3087-P Cytoplasmic regionProb. Benign (0)
3089-G Cytoplasmic regionProb. Benign (0)
3094-I Cytoplasmic regionProb. Benign (0)
3095-N Cytoplasmic regionProb. Benign (0)
3098-T Cytoplasmic regionProb. Benign (0)
3099-V Cytoplasmic regionNone
3103-P Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
3112-I Cytoplasmic regionProb. Benign (0)
3113-G Cytoplasmic regionProb. Benign (0)
3118-G Cytoplasmic regionNone
3120-D Cytoplasmic regionNone
3122-I Cytoplasmic regionProb. Benign (0)
3136-S Cytoplasmic regionProb. Benign (0)
3138-Y Cytoplasmic regionNone
3144-K Cytoplasmic regionProb. Benign (0)
3145-S Cytoplasmic regionProb. Benign (0)
3148-V Cytoplasmic regionProb. Benign (0)
3152-R Cytoplasmic regionProb. Benign (1)
3153-S Cytoplasmic regionProb. Benign (0)
3156-G Cytoplasmic regionProb. Benign (0)
3158-C Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
3167-P Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
3170-F Cytoplasmic regionProb. Benign (0)
3173-T Cytoplasmic regionProb. Benign (0)
3174-H Cytoplasmic regionProb. Benign (0)
3176-D Cytoplasmic regionProb. Benign (0)
3179-N Cytoplasmic regionProb. Benign (0)
3182-S Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3185-N Cytoplasmic regionNone9 RYR1 - Centronuclear myopathy, RYR1-related
3187-K Cytoplasmic regionBenign (2)
3190-R Cytoplasmic regionProb. Benign (1)
3191-E Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia
3192-R Cytoplasmic regionProb. Benign (0)
3200-N Cytoplasmic regionProb. Benign (0)
3201-V Cytoplasmic regionProb. Benign (0)
3203-D Cytoplasmic regionNone9 RYR1 - Axial myopathy, late-onset
3207-N Cytoplasmic regionProb. Benign (0)
3208-I Cytoplasmic regionProb. Benign (0)
3209-P Cytoplasmic regionProb. Benign (0)
3214-L Cytoplasmic regionProb. Benign (0)
3216-E Cytoplasmic regionProb. Benign (0)
3218-I Cytoplasmic regionNone6 RYR1 - Myopathy, congenital
3219-V Cytoplasmic regionNone
3223-E Cytoplasmic regionProb. Benign (0)
3225-G Cytoplasmic regionProb. Benign (0)
3227-R Cytoplasmic regionProb. Benign (0)
3230-Q Cytoplasmic regionNone
3231-M Cytoplasmic regionProb. Benign (0)
3235-M Cytoplasmic regionProb. Benign (0)
3236-E Cytoplasmic regionNone7 RYR1 - Multi-minicore disease
3246-M Cytoplasmic regionProb. Benign (0)
3249-W Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia ?
3250-W Cytoplasmic regionProb. Benign (0)
3252-H Cytoplasmic regionProb. Benign (0)9 RYR1 - Congenital myopathy with central nuclei
3255-E Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3258-P Cytoplasmic regionProb. Benign (0)
3260-R Cytoplasmic regionProb. Benign (0)
3261-A Cytoplasmic regionProb. Benign (0)
3262-E Cytoplasmic regionProb. Benign (0)
3272-H Cytoplasmic regionProb. Benign (0)
3274-N Cytoplasmic regionProb. Benign (0)
3275-T Cytoplasmic regionProb. Benign (0)
3280-I Cytoplasmic regionProb. Benign (0)
3281-L Cytoplasmic regionNone
3287-N Cytoplasmic regionNone9 RYR1 - Fibre type disproportion, congenital
3290-I Cytoplasmic regionProb. Benign (0)
3291-D Cytoplasmic regionNone9 RYR1 - Central core disease
3292-E Cytoplasmic regionProb. Benign (0)
3293-G Cytoplasmic regionNone
3294-A Cytoplasmic regionProb. Benign (0)
3296-M Cytoplasmic regionNone
3304-Q Cytoplasmic regionArrhythmia (1)
3308-N Cytoplasmic regionProb. Benign (1)
3309-K Cytoplasmic regionNone8 RYR1 - Malignant hyperthermia
3311-K Cytoplasmic regionProb. Benign (0)
3316-K Cytoplasmic regionProb. Benign (0)
3321-P Cytoplasmic regionProb. Benign (0)
3323-M Cytoplasmic regionProb. Benign (0)
3327-K Cytoplasmic regionNone7 RYR1 - Multiminicore/minicore/multicore disease
3328-K Cytoplasmic regionProb. Benign (0)9 RYR1 - Central core disease
3332-T Cytoplasmic regionProb. Benign (0)
3336-E Cytoplasmic regionProb. Benign (0)
3337-E Cytoplasmic regionProb. Benign (0)
3338-D Cytoplasmic regionProb. Benign (0)
3341-K Cytoplasmic regionBenign (0)
3342-A Cytoplasmic regionProb. Benign (0)
3343-E Cytoplasmic regionProb. Benign (0)
3345-R Cytoplasmic regionProb. Benign (0)
3347-D Cytoplasmic regionProb. Benign (0)
3348-M Cytoplasmic regionNone
3349-S Cytoplasmic regionProb. Benign (0)
3351-A Cytoplasmic regionProb. Benign (0)
3358-E Cytoplasmic regionProb. Benign (0)
3360-T Cytoplasmic regionProb. Benign (0)
3363-A Cytoplasmic regionProb. Benign (0)9 RYR1 - Fibre type disproportion, congenital
3366-L Cytoplasmic regionProb. Benign (0)
3368-A Cytoplasmic regionNone9 RYR1 - Rhabdomyolysis, exercise-induced, Rhabdomyolysis, fever-induced
3371-P Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3376-F Cytoplasmic regionNone
3378-D Cytoplasmic regionProb. Benign (0)
3382-A Cytoplasmic regionProb. Benign (0)
3394-E Cytoplasmic regionProb. Benign (0)
3397-R Cytoplasmic regionProb. Benign (0)
3398-M Cytoplasmic regionProb. Benign (0)
3402-V Cytoplasmic regionProb. Benign (0)
3404-I Cytoplasmic regionProb. Benign (0)
3407-S Cytoplasmic regionProb. Benign (0)
3409-S Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
3413-K Cytoplasmic regionNone9 RYR1 - Axial myopathy, late-onset
3420-V Cytoplasmic regionProb. Benign (0)
3422-Q Cytoplasmic regionProb. Benign (0)9 RYR1 - Rhabdomyolysis episodes
3434-D Cytoplasmic regionProb. Benign (0)
3435-T Cytoplasmic regionNone
3442-A Cytoplasmic regionNone
3444-V Cytoplasmic regionProb. Benign (0)
3454-R Cytoplasmic regionProb. Benign (0)
3455-K Cytoplasmic regionProb. Benign (0)
3457-D Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia equivocal with halotane
3458-R Cytoplasmic regionProb. Benign (0)
3461-M Cytoplasmic regionProb. Benign (0)
3466-I Cytoplasmic regionProb. Benign (0)
3469-A Cytoplasmic regionProb. Benign (0)
3476-I Cytoplasmic regionNone
3477-G Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
3480-I Cytoplasmic regionProb. Benign (0)
3482-A Cytoplasmic regionProb. Benign (0)
3483-P Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
3491-L Cytoplasmic regionProb. Benign (0)
3495-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Central core disease
3496-F Cytoplasmic regionNone
3497-S Cytoplasmic regionNone9 RYR1 - Axial myopathy, late-onset
3498-L Cytoplasmic regionProb. Benign (0)
3502-E Cytoplasmic regionProb. Benign (0)
3506-R Cytoplasmic regionProb. Benign (0)
3508-I Cytoplasmic regionProb. Benign (0)
3510-R Cytoplasmic regionProb. Benign (0)
3519-L Cytoplasmic regionProb. Benign (0)
3524-I Cytoplasmic regionProb. Benign (0)
3530-L Cytoplasmic regionProb. Benign (0)
3538-T Cytoplasmic regionNone5 RYR1 - Muscular dystrophy, progressive axial ?
3539-D Cytoplasmic regionProb. Benign (0)5 RYR1 - Malignant hyperthermia
3544-P Cytoplasmic regionProb. Benign (0)
3547-T Cytoplasmic regionProb. Benign (0)
3560-H Cytoplasmic regionProb. Benign (0)
3561-L Cytoplasmic regionNone
3567-R Cytoplasmic regionProb. Benign (0)
3570-R Cytoplasmic regionOther Cardiac (3)
3574-C Cytoplasmic regionNone6 RYR1 - Central core disease
3581-R Cytoplasmic regionOther Cardiac (1)
3583-K Cytoplasmic regionProb. Benign (0)
3589-K Cytoplasmic regionNone
3593-K Cytoplasmic regionProb. Benign (0)
3597-R Cytoplasmic regionProb. Benign (0)
3604-R Cytoplasmic regionProb. Benign (0)
3606-A Cytoplasmic regionProb. Benign (0)
3615-R Cytoplasmic regionNone
3630-E Cytoplasmic regionProb. Benign (0)
3631-T Cytoplasmic regionProb. Benign (0)
3633-E Cytoplasmic regionProb. Benign (0)
3635-Y Cytoplasmic regionNone
3638-D Cytoplasmic regionArrhythmia (1)
3647-P Cytoplasmic regionProb. Benign (0)
3648-G Cytoplasmic regionProb. Benign (0)
3654-E Cytoplasmic regionProb. Benign (0)
3657-G Cytoplasmic regionNone
3658-T Cytoplasmic regionProb. Benign (0)
3659-K Cytoplasmic regionProb. Benign (0)
3669-L Cytoplasmic regionProb. Benign (0)
3673-R Cytoplasmic regionArrhythmia (1)9 RYR1 - Malignant hyperthermia
3675-A Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3678-E Cytoplasmic regionProb. Benign (0)
3679-K Cytoplasmic regionProb. Benign (0)
3683-E Cytoplasmic regionProb. Benign (0)
3688-Y Cytoplasmic regionNone8 RYR1 - Central core disease, RYR1-related
3690-A Cytoplasmic regionProb. Benign (0)
3693-D Cytoplasmic regionProb. Benign (0)
3697-K Cytoplasmic regionProb. Benign (0)
3701-D Cytoplasmic regionProb. Benign (0)
3707-G Cytoplasmic regionProb. Benign (0)
3709-E Cytoplasmic regionProb. Benign (0)
3711-V Cytoplasmic regionNone
3714-F Cytoplasmic regionNone
3718-E Cytoplasmic regionNone
3720-E Cytoplasmic regionProb. Benign (0)
3725-L Cytoplasmic regionNone
3728-Q Cytoplasmic regionProb. Benign (0)
3733-D Cytoplasmic regionProb. Benign (0)
3734-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia, Myopathy, congenital
3736-A Cytoplasmic regionProb. Benign (0)
3739-M Cytoplasmic regionNone
3740-V Cytoplasmic regionProb. Benign (0)
3741-L Cytoplasmic regionNone
3742-Q Cytoplasmic regionNone
3750-E Cytoplasmic regionProb. Benign (0)
3751-T Cytoplasmic regionProb. Benign (0)
3757-A Cytoplasmic regionProb. Benign (0)
3758-T Cytoplasmic regionNone
3759-L Cytoplasmic regionProb. Benign (0)
3765-I Cytoplasmic regionProb. Benign (0)
3768-G Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3773-V Cytoplasmic regionNone
3778-L Cytoplasmic regionArrhythmia (2)
3781-L Cytoplasmic regionProb. Benign (0)
3783-E Cytoplasmic regionProb. Benign (0)
3788-G Cytoplasmic regionProb. Benign (0)
3795-G Cytoplasmic regionProb. Benign (0)
3798-Q Cytoplasmic regionProb. Benign (0)
3799-S Cytoplasmic regionArrhythmia (2)
3800-C Cytoplasmic regionArrhythmia (3)
3802-V Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3807-A Cytoplasmic regionProb. Benign (0)
3808-F Cytoplasmic regionProb. Benign (0)
3809-E Cytoplasmic regionNone
3815-E Cytoplasmic regionNone9 RYR1 - Muscular dystrophy and arthrogryposis
3819-M Cytoplasmic regionNone
3821-T Cytoplasmic regionProb. Benign (0)
3833-D Cytoplasmic regionProb. Benign (0)
3851-N Cytoplasmic regionProb. Benign (0)
3853-D Cytoplasmic regionProb. Benign (0)
3857-Y Cytoplasmic regionNone
3859-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3861-Q Cytoplasmic regionArrhythmia (2)
3863-G Cytoplasmic regionNone
3864-N Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3869-N Cytoplasmic regionNone9 RYR1 - Myopathy, congenital, RYR1-related
3872-I Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia
3874-T Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
3876-D Cytoplasmic regionArrhythmia (1)
3879-L Cytoplasmic regionArrhythmia (3)
3883-E Cytoplasmic regionProb. Benign (0)
3889-Y Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3894-G Cytoplasmic regionProb. Benign (0)9 RYR1 - Malignant hyperthermia ?
3896-D Cytoplasmic regionProb. Benign (0)
3899-D Cytoplasmic regionProb. Benign (0)
3918-N Cytoplasmic regionNone
3925-Q Cytoplasmic regionArrhythmia (3)9 RYR1 - Central core disease
3937-H Cytoplasmic regionNone9 RYR1 - Myopathy, congenital ?
3938-S Cytoplasmic regionArrhythmia (5)
3939-R Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia, Malignant hyperthermia ?
3941-W Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia ?
3942-D Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3943-A Cytoplasmic regionOther Cardiac (1)
3946-G Cytoplasmic regionArrhythmia (10)9 RYR1 - Malignant hyperthermia
3959-S Cytoplasmic regionArrhythmia (3)
3963-S Cytoplasmic regionProb. Benign (0)
3965-I Cytoplasmic regionProb. Benign (0)
3966-E Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
3972-M Cytoplasmic regionArrhythmia (2)
3973-D Cytoplasmic regionArrhythmia (3)
3974-L Cytoplasmic regionArrhythmia (2)
3977-D Cytoplasmic regionArrhythmia (2)
3978-M Cytoplasmic regionArrhythmia (2)
3984-S Cytoplasmic regionNone9 RYR1 - Muscular dystrophy & congenital myopathy
3985-M Cytoplasmic regionNone
3987-E Cytoplasmic regionNone
3988-G Cytoplasmic regionProb. Benign (0)
3989-N Cytoplasmic regionNone
3990-V Cytoplasmic regionArrhythmia (2)
3992-N Cytoplasmic regionProb. Benign (0)
3997-K Cytoplasmic regionArrhythmia (3)9 RYR1 - Malignant hyperthermia
3999-M Cytoplasmic regionNone
4000-V Cytoplasmic regionProb. Benign (0)
4002-M Cytoplasmic regionArrhythmia (1)
4006-S Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia
4010-V Cytoplasmic regionProb. Benign (1)
4011-E Cytoplasmic regionProb. Benign (0)
4016-F Cytoplasmic regionProb. Benign (0)
4019-M Cytoplasmic regionProb. Benign (0)
4020-F Cytoplasmic regionArrhythmia (5)
4026-L Cytoplasmic regionProb. Benign (0)
4028-S Cytoplasmic regionProb. Benign (0)
4031-T Cytoplasmic regionProb. Benign (0)
4036-D Cytoplasmic regionProb. Benign (0)
4037-P Cytoplasmic regionNone7 RYR1 - Malignant hyperthermia
4039-G Cytoplasmic regionProb. Benign (0)
4041-G Cytoplasmic regionArrhythmia (1)
4047-D Cytoplasmic regionNone
4048-F Cytoplasmic regionProb. Benign (0)
4051-A Cytoplasmic regionProb. Benign (0)
4054-S Cytoplasmic regionProb. Benign (0)
4055-H Cytoplasmic regionProb. Benign (0)
4056-K Cytoplasmic regionProb. Benign (0)
4059-T Cytoplasmic regionProb. Benign (0)
4068-S Cytoplasmic regionNone9 RYR1 - Myopathy, centronuclear
4070-A Cytoplasmic regionProb. Benign (0)
4071-E Cytoplasmic regionProb. Benign (0)
4073-D Cytoplasmic regionProb. Benign (0)
4075-N Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
4076-E Cytoplasmic regionArrhythmia (4)
4078-L Cytoplasmic regionProb. Benign (0)
4079-D Cytoplasmic regionProb. Benign (0)
4080-Y Cytoplasmic regionNone
4081-E Cytoplasmic regionProb. Benign (0)
4082-E Cytoplasmic regionProb. Benign (0)
4083-F Cytoplasmic regionProb. Benign (0)
4086-R Cytoplasmic regionProb. Benign (0)
4089-E Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
4090-P Cytoplasmic regionNone
4091-A Cytoplasmic regionArrhythmia (5)
4092-K Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
4094-I Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
4095-G Cytoplasmic regionProb. Benign (0)
4097-N Cytoplasmic regionArrhythmia (2)
4100-V Cytoplasmic regionProb. Benign (0)
4101-L Cytoplasmic regionNone
4104-N Cytoplasmic regionArrhythmia (5)
4105-L Cytoplasmic regionArrhythmia (2)
4108-H Cytoplasmic regionArrhythmia (5)
4109-M Cytoplasmic regionArrhythmia (3)
4111-N Cytoplasmic regionProb. Benign (0)
4115-L Cytoplasmic regionArrhythmia (1)
4123-E Cytoplasmic regionProb. Benign (0)
4124-S Cytoplasmic regionArrhythmia (8)
4125-V Cytoplasmic regionProb. Benign (0)
4127-N Cytoplasmic regionNone
4134-G Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
4135-R Cytoplasmic regionProb. Benign (0)9 RYR1 - Myopathy, congenital
4137-E Cytoplasmic regionProb. Benign (0)9 RYR1 - Myopathy, congenital
4139-M Cytoplasmic regionOther Cardiac (1)
4143-K Cytoplasmic regionProb. Benign (0)
4144-R Cytoplasmic regionArrhythmia (3)
4146-E Cytoplasmic regionArrhythmia (3)
4149-Y Cytoplasmic regionArrhythmia (2)
4150-F Cytoplasmic regionNone5 RYR1 - Arthrogryposis multiplex congenita with axoglial d
4153-S Cytoplasmic regionArrhythmia (5)
4155-S Cytoplasmic regionArrhythmia (1)
4157-R Cytoplasmic regionArrhythmia (2)
4158-T Cytoplasmic regionArrhythmia (3)
4159-Q Cytoplasmic regionArrhythmia (3)
4166-K Cytoplasmic regionNone9 RYR1 - Multi-minicore disease
4176-V Cytoplasmic regionNone
4178-N Cytoplasmic regionArrhythmia (4)
4180-G Cytoplasmic regionProb. Benign (0)
4181-G Cytoplasmic regionProb. Benign (0)
4182-E Cytoplasmic regionNone
4184-E Cytoplasmic regionNone
4185-K Cytoplasmic regionNone5 RYR1 - Myopathy, congenital
4186-M Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia
4187-E Cytoplasmic regionArrhythmia (3)
4188-L Cytoplasmic regionArrhythmia (2)
4190-V Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia
4193-C Cytoplasmic regionArrhythmia (1)
4194-E Cytoplasmic regionProb. Benign (0)
4195-D Cytoplasmic regionNone
4196-T Cytoplasmic regionArrhythmia (3)
4197-I Cytoplasmic regionProb. Benign (0)
4201-Q Cytoplasmic regionArrhythmia (4)
4203-A Cytoplasmic regionNone
4204-A Cytoplasmic regionOther Cardiac (1)
4216-A Cytoplasmic regionProb. Benign (0)
4220-E Cytoplasmic regionProb. Benign (0)
4221-S Cytoplasmic regionProb. Benign (0)
4222-E Cytoplasmic regionProb. Benign (0)
4224-E Cytoplasmic regionProb. Benign (0)
4228-E Cytoplasmic regionProb. Benign (0)
4231-P Cytoplasmic regionNone
4232-R Cytoplasmic regionProb. Benign (0)
4233-M Cytoplasmic regionNone3 RYR1 - Exertional heat illness
4234-A Cytoplasmic regionProb. Benign (0)3 RYR1 - Malignant hyperthermia
4245-L Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia & exertional rhabdomyolosis
4246-F Cytoplasmic regionNone5 RYR1 - Malignant hyperthermia ?
4249-R Cytoplasmic regionProb. Benign (0)
4250-Y Cytoplasmic regionNone
4251-N Cytoplasmic regionProb. Benign (0)
4255-L Cytoplasmic regionProb. Benign (0)
4256-M Cytoplasmic regionProb. Benign (0)
4257-R Cytoplasmic regionProb. Benign (0)
4258-M Cytoplasmic regionNone
4263-S Cytoplasmic regionProb. Benign (0)
4267-Q Cytoplasmic regionProb. Benign (0)
4271-V Cytoplasmic regionProb. Benign (0)
4273-K Cytoplasmic regionProb. Benign (0)
4276-V Cytoplasmic regionProb. Benign (0)
4279-M Cytoplasmic regionProb. Benign (0)
4280-V Cytoplasmic regionNone7 RYR1 - Myopathy, congenital
4281-T Cytoplasmic regionProb. Benign (0)
4282-A Transmembrane regionProb. Benign (1)7 RYR1 - Exertional heat illness
4284-F Transmembrane regionProb. Benign (0)
4285-S Transmembrane regionProb. Benign (0)
4287-Y Transmembrane regionProb. Benign (0)
4290-I Transmembrane regionProb. Benign (0)
4298-V Transmembrane regionArrhythmia (1)
4301-V Transmembrane regionProb. Benign (0)
4306-F Transmembrane regionProb. Benign (0)
4307-R Transmembrane regionBenign (1)
4315-G Transmembrane regionProb. Benign (1)
4321-G Transmembrane regionProb. Benign (0)
4324-K Transmembrane regionNone
4327-V Transmembrane regionProb. Benign (0)
4328-A Transmembrane regionProb. Benign (0)
4330-L Transmembrane regionProb. Benign (0)
4333-N Transmembrane regionProb. Benign (0)
4336-D Transmembrane regionProb. Benign (0)
4341-E Transmembrane regionProb. Benign (0)
4344-G Transmembrane regionProb. Benign (0)
4345-D Transmembrane regionProb. Benign (0)
4353-P Transmembrane regionNone
4357-A Transmembrane regionProb. Benign (0)
4361-E Transmembrane regionOther Cardiac (1)
4363-L Transmembrane regionProb. Benign (0)
4365-D Transmembrane regionProb. Benign (1)
4377-S Transmembrane regionNone
4390-Q Transmembrane regionProb. Benign (0)
4392-K Transmembrane regionArrhythmia (1)
4397-N Transmembrane regionProb. Benign (0)
4399-N Transmembrane regionProb. Benign (0)
4400-A Transmembrane regionProb. Benign (0)
4405-L Transmembrane regionProb. Benign (0)
4406-M Transmembrane regionProb. Benign (0)
4407-S Transmembrane regionProb. Benign (0)
4410-V Transmembrane regionProb. Benign (0)
4412-M Transmembrane regionProb. Benign (0)
4421-E Transmembrane regionProb. Benign (0)
4423-K Transmembrane regionProb. Benign (0)
4424-A Transmembrane regionNone
4428-E Transmembrane regionProb. Benign (0)
4431-E Transmembrane regionArrhythmia (2)
4432-K Transmembrane regionProb. Benign (0)
4434-E Transmembrane regionProb. Benign (0)
4435-T Transmembrane regionProb. Benign (0)
4439-P Transmembrane regionProb. Benign (0)5 RYR1 - Malignant hyperthermia ?
4440-E Transmembrane regionNone6 RYR1 - Myopathy, congenital
4443-E Transmembrane regionProb. Benign (0)6 RYR1 - Myopathy, progressive axial with cataracts
4447-G Transmembrane regionProb. Benign (0)
4451-E Transmembrane regionProb. Benign (0)
4457-K Transmembrane regionProb. Benign (0)
4460-Q Transmembrane regionProb. Benign (0)
4467-T Transmembrane regionProb. Benign (0)
4469-R Transmembrane regionProb. Benign (0)
4470-Y Transmembrane regionProb. Benign (0)
4471-G Transmembrane regionOther Cardiac (1)
4473-P Transmembrane regionNone
4485-I Transmembrane regionProb. Benign (0)
4486-A Transmembrane regionProb. Benign (0)
4488-Q Transmembrane regionArrhythmia (1)
4497-R Transmembrane regionArrhythmia (5)9 RYR1 - Central core disease
4499-F Transmembrane regionArrhythmia (3)
4502-M Transmembrane regionNone
4504-M Transmembrane regionArrhythmia (3)
4506-A Transmembrane regionNone
4507-L Transmembrane regionNone9 RYR1 - Central core disease
4510-A Transmembrane regionArrhythmia (3)
4514-N Transmembrane regionNone
4524-T Transmembrane regionProb. Benign (0)
4526-S Transmembrane regionNone4 RYR1 - Malignant hyperthermia
4534-P Transmembrane regionProb. Benign (0)
4535-T Transmembrane regionProb. Benign (0)
4539-S Transmembrane regionProb. Benign (0)
4543-K Transmembrane regionProb. Benign (0)
4545-T Transmembrane regionNone
4546-S Transmembrane regionProb. Benign (0)
4551-S Transmembrane regionNone4 RYR1 - Multi-minicore disease
4552-H Transmembrane regionOther Cardiac (1)
4556-A Transmembrane regionArrhythmia (5)
4557-V Transmembrane regionNone8 RYR1 - Myopathy, congenital
4558-H Transmembrane regionArrhythmia (1)
4559-Y Transmembrane regionNone8 RYR1 - Central core disease, Myopathy, congenital
4562-E Transmembrane regionNone8 RYR1 - Central core disease
4563-E Transmembrane regionNone8 RYR1 - Myopathy, congenital
4564-S Transmembrane regionProb. Benign (0)
4565-S Transmembrane regionOther Cardiac (2)9 RYR1 - Core/rod disease, Myopathy, congenital
4566-G Transmembrane regionNone9 RYR1 - Central core disease
4568-M Transmembrane regionNone9 RYR1 - Central core disease
4571-T Transmembrane regionProb. Benign (0)9 RYR1 - Muscular dystrophy
4573-R Transmembrane regionProb. Benign (0)6 RYR1 - Malignant hyperthermia
4575-L Transmembrane regionNone7 RYR1 - Central core disease
4578-L Transmembrane regionNone5 RYR1 - Central core disease
4579-H Transmembrane regionArrhythmia (1)7 RYR1 - Central core disease
4583-S Transmembrane regionNone
4587-I Transmembrane regionArrhythmia (1)
4588-I Transmembrane regionNone
4592-C Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4594-K Transmembrane regionArrhythmia (2)
4598-V Transmembrane regionNone9 RYR3 - Colorectal cancer
4600-F Transmembrane regionArrhythmia (1)
4607-A Transmembrane regionArrhythmia (2)
4608-R Transmembrane regionArrhythmia (2)
4611-E Transmembrane regionArrhythmia (2)
4612-F Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4622-S Transmembrane regionProb. Benign (0)
4625-D Transmembrane regionProb. Benign (0)
4630-W Transmembrane regionNone
4631-D Transmembrane regionArrhythmia (1)
4634-V Transmembrane regionProb. Benign (0)
4635-I Transmembrane regionProb. Benign (0)
4636-N Transmembrane regionProb. Benign (0)
4637-T Transmembrane regionNone9 RYR1 - Myopathy, congenital
4645-W Transmembrane regionArrhythmia (4)
4650-K Transmembrane regionArrhythmia (4)
4652-K Transmembrane regionNone9 RYR1 - Central core disease
4653-V Transmembrane regionArrhythmia (3)
4657-Y Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4659-E Transmembrane regionProb. Benign (0)
4661-Y Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4662-G Transmembrane regionArrhythmia (2)9 RYR1 - Malignant hyperthermia
4663-R Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4665-R Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4666-I Transmembrane regionProb. Benign (0)
4670-L Transmembrane regionArrhythmia (3)
4671-G Transmembrane regionArrhythmia (6)9 RYR1 - Multiminicore/minicore/multicore disease
4676-A Transmembrane regionProb. Benign (0)
4683-R Transmembrane regionProb. Benign (0)
4688-P Transmembrane regionNone
4700-S Transmembrane regionProb. Benign (0)
4701-I Transmembrane regionProb. Benign (0)
4706-Q Transmembrane regionProb. Benign (0)
4708-W Transmembrane regionNone
4711-G Transmembrane regionNone9 RYR1 - Congenital myopathy & foetal akinesia
4712-V Transmembrane regionProb. Benign (0)
4716-D Transmembrane regionNone
4718-S Transmembrane regionProb. Benign (0)
4720-L Transmembrane regionNone
4722-L Transmembrane regionNone9 RYR1 - Central core disease
4723-A Transmembrane regionProb. Benign (0)
4724-W Transmembrane regionProb. Benign (0)
4725-Y Transmembrane regionArrhythmia (1)9 RYR1 - Central core disease
4728-M Transmembrane regionProb. Benign (0)
4733-H Transmembrane regionNone9 RYR1 - Multi-minicore disease
4735-N Transmembrane regionNone9 RYR1 - Myopathy, congenital
4737-F Transmembrane regionNone9 RYR1 - Central core disease, Myopathy, congenital
4738-F Transmembrane regionNone9 RYR1 - Congenital myopathy
4740-A Transmembrane regionNone9 RYR1 - Central core disease
4741-A Transmembrane regionArrhythmia (1)
4742-H Transmembrane regionOther Cardiac (2)9 RYR1 - Myopathy, congenital
4743-L Transmembrane regionNone9 RYR1 - Central core disease
4745-D Transmembrane regionNone9 RYR1 - Myopathy, RYR1-associated
4746-I Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4749-G Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4750-F Transmembrane regionProb. Benign (0)
4751-K Transmembrane regionArrhythmia (1)
4752-T Transmembrane regionNone9 RYR1 - Myopathy, congenital
4753-L Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4754-R Transmembrane regionNone9 RYR1 - Central core disease
4755-T Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4758-S Transmembrane regionProb. Benign (0)
4760-V Transmembrane regionNone
4762-H Transmembrane regionArrhythmia (2)9 RYR1 - Malignant hyperthermia
4763-N Transmembrane regionNone
4767-L Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4768-V Transmembrane regionProb. Benign (0)
4771-V Transmembrane regionArrhythmia (6)9 RYR1 - Myopathy, congenital with cores
4772-G Transmembrane regionProb. Benign (0)
4775-A Transmembrane regionNone9 RYR1 - Myotonic dystrophy, type 1
4776-V Transmembrane regionNone9 RYR1 - Malignant hyperthermia ?
4778-V Transmembrane regionNone9 RYR1 - Central core disease
4779-Y Transmembrane regionNone9 RYR1 - Myopathy, RYR1-associated
4782-T Transmembrane regionProb. Benign (0)9 RYR1 - Malignant hyperthermia
4785-A Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4787-N Transmembrane regionNone9 RYR1 - Central core disease
4789-F Transmembrane regionNone9 RYR1 - Central core disease
4790-R Transmembrane regionArrhythmia (3)9 RYR1 - Central core disease
4791-K Transmembrane regionNone9 RYR1 - Central core disease, RYR1-related
4793-Y Transmembrane regionNone9 RYR1 - Central core disease
4796-S Transmembrane regionNone9 RYR1 - Multi-minicore disease
4799-G Transmembrane regionNone9 RYR3 - Epileptic encephalopathy
4802-P Transmembrane regionProb. Benign (0)
4805-K Transmembrane regionArrhythmia (3)9 RYR1 - Malignant hyperthermia
4808-D Transmembrane regionProb. Benign (0)
4809-M Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4810-L Transmembrane regionNone9 RYR1 - Myopathy, congenital
4811-T Transmembrane regionNone9 RYR1 - Core rod myopathy
4814-M Transmembrane regionNone
4815-F Transmembrane regionNone9 RYR1 - Myopathy, congenital
4816-H Transmembrane regionNone9 RYR1 - Multi-minicore disease
4820-G Transmembrane regionNone9 RYR1 - Central core disease
4821-V Transmembrane regionArrhythmia (2)
4822-R Transmembrane regionArrhythmia (3)9 RYR1 - Central core disease
4823-A Transmembrane regionNone9 RYR1 - Central core disease, Malignant hyperthermia, Myopathy, congenital (CNMDU1)
4824-G Transmembrane regionProb. Benign (0)
4826-G Transmembrane regionNone9 RYR1 - Central core disease
4827-I Transmembrane regionNone9 RYR1 - Central core disease
RYR3 - Schizophrenia
4828-G Transmembrane regionNone9 RYR1 - Central core disease
4831-I Transmembrane regionProb. Benign (0)
4835-A Transmembrane regionNone9 RYR1 - Central core disease
4836-G Transmembrane regionNone9 RYR1 - Central core disease
4837-D Transmembrane regionNone9 RYR1 - Multi-minicore disease
4838-E Transmembrane regionProb. Benign (0)
4840-E Transmembrane regionNone9 RYR1 - Myopathy, congenital
4843-R Transmembrane regionNone9 RYR1 - Central core disease
4846-F Transmembrane regionNone9 RYR1 - Myopathy, congenital
4847-D Transmembrane regionNone9 RYR1 - Central core disease
4848-I Transmembrane regionArrhythmia (3)
4849-T Transmembrane regionNone9 RYR1 - Central core disease
4850-F Transmembrane regionNone9 RYR1 - Central core disease
4851-F Transmembrane regionArrhythmia (4)
4855-I Transmembrane regionProb. Benign (0)
4856-V Transmembrane regionNone9 RYR1 - Central core disease
4860-A Transmembrane regionArrhythmia (4)
4864-G Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4865-L Transmembrane regionArrhythmia (1)9 RYR1 - Central core disease
4867-I Transmembrane regionArrhythmia (4)9 RYR1 - Central core disease, Malignant hyperthermia
4868-D Transmembrane regionNone9 RYR1 - Malignant hyperthermia
4869-A Transmembrane regionNone9 RYR1 - Central core disease
4870-F Transmembrane regionNone9 RYR1 - Central core disease
4871-G Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
4875-D Cytoplasmic regionNone
4879-Q Cytoplasmic regionNone
4880-V Cytoplasmic regionArrhythmia (2)
4889-F Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
4890-I Cytoplasmic regionProb. Benign (0)
4893-I Cytoplasmic regionProb. Benign (0)
4895-N Cytoplasmic regionArrhythmia (3)
4896-D Cytoplasmic regionProb. Benign (0)
4898-F Cytoplasmic regionNone
4899-D Cytoplasmic regionNone
4902-P Cytoplasmic regionArrhythmia (6)9 RYR1 - Malignant hyperthermia
4903-H Cytoplasmic regionProb. Benign (0)
4904-G Cytoplasmic regionOther Cardiac (1)
4905-F Cytoplasmic regionArrhythmia (1)9 RYR1 - Myopathy, congenital
4909-T Cytoplasmic regionNone9 RYR1 - Myopathy, congenital
4919-L Cytoplasmic regionArrhythmia (1)
4935-G Cytoplasmic regionArrhythmia (3)
4936-Q Cytoplasmic regionArrhythmia (1)
4949-W Cytoplasmic regionNone9 RYR1 - Malignant hyperthermia
4950-E Cytoplasmic regionArrhythmia (2)
4955-G Cytoplasmic regionOther Disease (1)
4957-C Cytoplasmic regionProb. Benign (0)
4959-R Cytoplasmic regionArrhythmia (4)
4961-Q Cytoplasmic regionProb. Benign (0)
4962-Y Cytoplasmic regionArrhythmia (2)