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 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.

ResidueDomainKnown Variant Status ConsensusMapped 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 None9 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 None9 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 None9 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 None9 RYR1 - Central core disease, Malignant hyperthermia ?
178-G Cytoplasmic region Arrhythmia (1)9 RYR1 - Malignant hyperthermia
179-D Cytoplasmic region None9 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 None6 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 None9 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 None5 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 None9 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 None9 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 None9 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 None9 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 None7 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 None9 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 None9 RYR1 - Malignant hyperthermia
3869-N Cytoplasmic region None9 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 None9 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 None9 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 None9 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)