RYR1 Paralogue Annotation

This page details the annotation of RYR1 with disease causing variants in the following paralogues: RYR2, RYR3. Click here to see the multiple sequence alignment of RYR1 with all paralogues.

The paralogue variant mappings to RYR1 are based on the the transcript ENST00000359596 and protein ENSP00000352608 (5038 amino acids) for the Ensembl gene ENSG00000196218.



Amino acid residues of RYR1 with known missense variants or mapped disease-causing missense variants from paralogues are shown below, along with details about the RYR1 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 RYR1 variants and the mapped paralogue variants.

ResidueDomainKnown Variant Status ConsensusMapped Paralogues and Variant Disease
2-G None
12-F Prob. Benign (0)
13-L Myopathy (4)
14-R Prob. Benign (0)
15-T Prob. Benign (0)
17-D Prob. Benign (0)
22-Q Prob. Benign (0)
25-A Prob. Benign (0)
27-V Prob. Benign (0)
28-L None9 RYR2 - Ventricular tachycardia, polymorphic
30-E Other Cardiac (1)
32-L Prob. Benign (0)
33-K Myopathy (1)
35-C Myopathy (5)
38-A Prob. Benign (0)
39-E Prob. Benign (0)
40-G Myopathy (1)
41-F Myopathy (1)
42-G Prob. Benign (0)
44-R Myopathy (4)
51-T Myopathy (1)
52-S Other Disease (1)
54-A Prob. Benign (0)
60-D Myopathy (4)
61-L Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
64-C Myopathy (1)
67-V Prob. Benign (0)
71-S Myopathy (2)
72-L None9 RYR2 - Sudden cardiac death
75-R Prob. Benign (0)
76-A None9 RYR2 - Arrhythmogenic right ventricular dysplasia type 2
80-M None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
82-A Prob. Benign (0)
84-T Prob. Benign (0)
89-V Prob. Benign (0)
90-E Prob. Benign (0)
91-S Prob. Benign (0)
95-G Prob. Benign (0)
99-T Prob. Benign (0)
102-Y Prob. Benign (0)
104-H Prob. Benign (0)
108-L Prob. Benign (0)
109-R Myopathy (3)
110-H Prob. Benign (0)
112-H Myopathy (1)
114-R Prob. Benign (0)
116-Y Prob. Benign (0)
117-L Prob. Benign (0)
118-S Prob. Benign (0)
121-T Prob. Benign (0)
124-R Prob. Benign (0)
126-M Prob. Benign (0)
127-T Prob. Benign (0)
134-V Prob. Benign (0)
140-A Prob. Benign (0)
145-C Prob. Benign (0)
148-T Prob. Benign (0)
149-M Prob. Benign (0)
151-P None9 RYR2 - Ventricular tachycardia, polymorphic
152-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
153-S None9 RYR2 - Long QT syndrome
155-Q Myopathy (1)
156-R Myopathy (2)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
160-E Myopathy (1)
163-R Myopathy (19)9 RYR2 - Arrhythmogenic right ventricular dysplasia type 2
164-V Prob. Benign (0)
165-G Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
166-D Myopathy (2)
168-I Prob. Benign (0)
173-V Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
176-E Prob. Benign (0)7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
177-R Myopathy (3)
178-Y Myopathy (1)
182-S Prob. Benign (0)
183-T Prob. Benign (0)
184-A Prob. Benign (0)
185-S Benign (0)
186-G Prob. Benign (0)
190-V Prob. Benign (0)
191-D Prob. Benign (0)
192-A Prob. Benign (0)
193-S Prob. Benign (0)
199-W Prob. Benign (0)
204-I Prob. Benign (0)8 RYR2 - Long QT syndrome
205-C Prob. Benign (0)
207-R Prob. Benign (0)
209-E Prob. Benign (0)
213-V Prob. Benign (0)
214-T Myopathy (1)
215-G Myopathy (4)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
218-V Myopathy (2)
220-R Prob. Benign (0)
223-H Prob. Benign (0)
225-H Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
226-M Myopathy (1)
227-D Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
228-E None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
229-C Prob. Benign (0)
236-D Prob. Benign (0)
237-S Prob. Benign (0)
238-D Prob. Benign (0)
241-R Prob. Benign (0)
244-V Prob. Benign (0)
248-G Myopathy (13)
253-T Prob. Benign (0)
256-R Prob. Benign (0)
258-L Prob. Benign (0)
260-R Prob. Benign (0)
274-R Prob. Benign (0)
275-W Prob. Benign (0)
277-Q Prob. Benign (0)
278-P Prob. Benign (0)
282-R Prob. Benign (0)
283-H Other Disease (1)
284-V Prob. Benign (0)
287-G Prob. Benign (0)
291-A Prob. Benign (0)
294-E Prob. Benign (0)
301-V Prob. Benign (0)
303-A Prob. Benign (0)
304-S Prob. Benign (0)
312-S Prob. Benign (0)
313-F None8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
316-R Myopathy (1)8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
317-I Prob. Benign (0)
326-P Prob. Benign (0)
327-K Prob. Benign (0)
328-R Myopathy (1)
330-V Prob. Benign (0)
334-G Prob. Benign (0)
336-P Prob. Benign (0)
341-G Myopathy (14)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
342-E Myopathy (1)
347-V Prob. Benign (0)
360-A Prob. Benign (0)
361-P Prob. Benign (0)
363-P Prob. Benign (0)
364-K Prob. Benign (0)
366-L Prob. Benign (0)
367-R Myopathy (2)
369-G Prob. Benign (0)
370-V Prob. Benign (0)
376-M Prob. Benign (0)
382-H Myopathy (2)
384-D None9 RYR2 - Long QT syndrome
388-S Prob. Benign (0)
389-L Prob. Benign (0)
390-T None8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
391-R Prob. Benign (0)8 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Long QT syndrome
396-E Prob. Benign (0)
397-S None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
398-Q None9 RYR2 - Ventricular tachycardia, polymorphic
399-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
401-R Myopathy (9)
402-M Myopathy (4)
403-I Myopathy (6)9 RYR2 - Ventricular tachycardia, polymorphic
404-H Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
407-N Prob. Benign (0)
408-G Prob. Benign (0)
412-Q Prob. Benign (0)
414-I Prob. Benign (0)
415-K Prob. Benign (0)
417-L Myopathy (1)5 RYR2 - Arrhythmogenic right ventricular dysplasia type 2
421-S Prob. Benign (0)
422-G Prob. Benign (0)
425-R Prob. Benign (0)
427-S Myopathy (2)
429-P Prob. Benign (0)
431-A Prob. Benign (0)
433-T Prob. Benign (0)
436-P Prob. Benign (0)
437-I Prob. Benign (0)
438-E Prob. Benign (0)
439-G Prob. Benign (0)
440-V Prob. Benign (0)
444-L Prob. Benign (0)
454-P None5 RYR2 - Ventricular tachycardia, polymorphic
458-L Prob. Benign (0)
462-E Prob. Benign (0)
464-Q Other Disease (1)
469-S Prob. Benign (0)
473-R Prob. Benign (0)9 RYR2 - Cardiomyopathy, hypertrophic
474-Q Myopathy (2)
475-S Prob. Benign (0)
480-E None
481-G Prob. Benign (0)
482-M Prob. Benign (0)
483-L Prob. Benign (0)
485-M Myopathy (4)
491-D Prob. Benign (0)
492-R Other Disease (1)
493-L Prob. Benign (0)
501-H Prob. Benign (0)
506-A Prob. Benign (0)
507-G Prob. Benign (0)
510-A Prob. Benign (0)
511-A Prob. Benign (0)
512-E Myopathy (2)
514-W Prob. Benign (0)
516-E Prob. Benign (0)
521-L Prob. Benign (0)
522-Y Myopathy (8)
527-S Prob. Benign (0)
530-R Myopathy (3)
532-N Prob. Benign (0)
533-R Myopathy (6)
535-N Benign (0)9 RYR2 - Sudden cardiac death
537-A Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
539-F Myopathy (1)
543-L None9 RYR2 - Cardiac arrhythmia
544-D Myopathy (1)
552-R Myopathy (4)
554-E None
559-I Prob. Benign (0)
564-Y Prob. Benign (0)
572-E Prob. Benign (0)
574-L Myopathy (1)
579-E Prob. Benign (0)
580-N Prob. Benign (0)
585-I Prob. Benign (0)
590-D Prob. Benign (0)
594-R Prob. Benign (0)
597-K Prob. Benign (0)
599-L Prob. Benign (0)
600-D Prob. Benign (0)
601-V Prob. Benign (0)
603-C Prob. Benign (0)
604-S None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
608-C Prob. Benign (0)
610-G Prob. Benign (0)
612-A Myopathy (3)
614-R Myopathy (19)
615-S Prob. Benign (0)
621-T None
626-P Prob. Benign (0)
628-R Prob. Benign (0)
629-E Prob. Benign (0)
631-L Prob. Benign (0)
635-N Prob. Benign (0)
637-I Prob. Benign (0)
639-Y Prob. Benign (0)
643-I Prob. Benign (0)
644-R Myopathy (1)
651-R Prob. Benign (0)
652-A Prob. Benign (0)
654-G Prob. Benign (0)
656-T Prob. Benign (0)
669-E Prob. Benign (0)
672-P Prob. Benign (0)
678-A Prob. Benign (0)
680-H Prob. Benign (0)
682-R Prob. Benign (0)
689-E Prob. Benign (0)
692-T Prob. Benign (0)
695-P Prob. Benign (0)
696-G Prob. Benign (0)
699-E Prob. Benign (0)
703-G Prob. Benign (0)
704-N Prob. Benign (0)
705-G Myopathy (1)
706-V Prob. Benign (0)
707-G Myopathy (2)
708-D Myopathy (6)
714-G Prob. Benign (0)
722-T None
723-G Prob. Benign (0)
725-V Prob. Benign (0)
727-R Prob. Benign (0)8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
730-T Prob. Benign (0)
732-P Prob. Benign (0)
735-H Myopathy (1)
739-P Prob. Benign (0)
744-S Prob. Benign (0)
746-C Prob. Benign (0)
749-L Prob. Benign (0)
750-S Prob. Benign (0)
751-V Prob. Benign (0)
752-P Prob. Benign (0)
754-I Prob. Benign (0)
759-N Myopathy (5)
760-G Prob. Benign (0)
763-V Myopathy (1)
764-Q Prob. Benign (0)
771-N Prob. Benign (0)
774-G Prob. Benign (0)
775-L Prob. Benign (0)
786-V Prob. Benign (0)
787-K Prob. Benign (0)
789-R Myopathy (1)
790-F Prob. Benign (0)
795-R Prob. Benign (0)
799-F Prob. Benign (0)
800-K Prob. Benign (0)
802-L Prob. Benign (0)
803-P Prob. Benign (0)
806-G Prob. Benign (0)
816-P Prob. Benign (0)
817-R Prob. Benign (0)
818-E Prob. Benign (0)
819-R Prob. Benign (0)
820-L Prob. Benign (0)
821-H Prob. Benign (0)
823-E Prob. Benign (0)
824-P Prob. Benign (0)
826-K Prob. Benign (0)
827-E Prob. Benign (0)
829-R Prob. Benign (0)
830-R Other Disease (1)
834-R Prob. Benign (0)
835-G Prob. Benign (0)
838-L Myopathy (1)
839-V Prob. Benign (0)
841-P Prob. Benign (0)
842-S Prob. Benign (0)
843-R Prob. Benign (0)
844-C Prob. Benign (0)
845-L Prob. Benign (0)
846-S Prob. Benign (0)
849-D Prob. Benign (0)
851-V Prob. Benign (0)
853-C Prob. Benign (0)
863-P Prob. Benign (0)
865-H Prob. Benign (0)
866-L Prob. Benign (0)
868-R Myopathy (1)
870-R Prob. Benign (0)
871-E Prob. Benign (0)
874-A Prob. Benign (0)
878-H Prob. Benign (0)
879-E Myopathy (2)
882-A Prob. Benign (0)
883-L Prob. Benign (0)
885-R Myopathy (1)
887-E Prob. Benign (0)
889-G None9 RYR2 - Colorectal cancer
893-G Myopathy (4)
894-P Prob. Benign (0)
895-V Prob. Benign (0)
896-R Prob. Benign (0)
899-N Prob. Benign (0)
900-K Prob. Benign (0)
901-R Prob. Benign (0)
904-P Prob. Benign (0)
905-C Prob. Benign (0)
917-R None9 RYR2 - Cardiomyopathy, hypertrophic
918-N Prob. Benign (0)
923-M Prob. Benign (0)
927-T Prob. Benign (0)
933-A Myopathy (3)
936-C Prob. Benign (0)
938-V Prob. Benign (0)
941-A Prob. Benign (0)
942-D None
949-L Prob. Benign (0)
952-T Prob. Benign (0)
957-T Prob. Benign (0)
964-Y Prob. Benign (0)
966-P Prob. Benign (0)
967-A Prob. Benign (0)
973-H Prob. Benign (0)
974-V Prob. Benign (0)
975-R Prob. Benign (0)
977-T Prob. Benign (0)
978-P Prob. Benign (0)
979-A Prob. Benign (0)
981-T Prob. Benign (0)
986-R Myopathy (5)
987-L Prob. Benign (0)
989-E Myopathy (2)
995-W Prob. Benign (0)
996-A Prob. Benign (0)
997-R Prob. Benign (0)
999-R Prob. Benign (0)
1000-V Prob. Benign (0)
1001-G Prob. Benign (0)7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1005-S Prob. Benign (0)
1006-Y Prob. Benign (0)
1008-A Prob. Benign (0)
1009-V Prob. Benign (0)
1014-A Prob. Benign (0)
1015-R Prob. Benign (0)
1016-R Prob. Benign (0)
1018-P Prob. Benign (0)
1019-R Prob. Benign (0)
1020-L Prob. Benign (0)
1022-P Prob. Benign (0)
1024-R Prob. Benign (0)
1028-E Prob. Benign (0)
1032-R Prob. Benign (0)
1035-R Prob. Benign (0)
1036-D Prob. Benign (0)
1039-C None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1042-V Prob. Benign (0)
1043-R Myopathy (3)
1049-G Myopathy (1)
1056-D Myopathy (2)
1058-E Myopathy (1)
1059-P Prob. Benign (0)
1061-Q Prob. Benign (0)
1064-N Prob. Benign (0)
1067-R Prob. Benign (0)
1070-R Prob. Benign (0)
1071-V Prob. Benign (0)
1072-R Prob. Benign (0)
1073-I Prob. Benign (0)
1075-R Myopathy (1)
1078-K Prob. Benign (0)
1079-S Prob. Benign (0)
1082-V Prob. Benign (0)
1084-S Prob. Benign (0)
1085-G Prob. Benign (0)
1086-R Prob. Benign (0)
1088-Y Myopathy (1)
1093-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1096-T Prob. Benign (0)
1097-G Prob. Benign (0)
1100-R Prob. Benign (0)
1101-V Prob. Benign (0)
1104-A Prob. Benign (0)
1107-E Prob. Benign (0)
1109-R Benign (0)
1110-P Prob. Benign (0)
1113-E None9 RYR2 - Cardiomyopathy, hypertrophic
1115-G Prob. Benign (0)
1116-A Prob. Benign (0)
1117-D Prob. Benign (0)
1118-E Prob. Benign (0)
1121-Y Myopathy (1)
1122-V None8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1124-N Prob. Benign (0)
1127-R Myopathy (1)
1128-G Prob. Benign (0)
1130-R Prob. Benign (0)
1132-H Prob. Benign (0)
1140-R Myopathy (1)
1141-P Prob. Benign (0)
1144-P Prob. Benign (0)
1146-D Prob. Benign (0)
1148-V Prob. Benign (0)
1149-G Prob. Benign (0)
1150-C Other Disease (1)
1153-D Prob. Benign (0)
1154-L Prob. Benign (0)
1155-T Prob. Benign (0)
1157-N Prob. Benign (0)
1165-G Myopathy (1)
1166-E Prob. Benign (0)
1167-V Prob. Benign (0)
1169-M Prob. Benign (0)
1175-E Myopathy (1)
1176-T Prob. Benign (0)
1179-R Myopathy (1)
1183-I Prob. Benign (0)
1185-D Prob. Benign (0)
1190-V Prob. Benign (0)
1192-S Prob. Benign (0)
1196-G Prob. Benign (0)
1206-D Prob. Benign (0)
1207-V Prob. Benign (0)
1209-S Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1211-R Prob. Benign (0)
1215-I Prob. Benign (0)
1216-C Prob. Benign (0)
1218-L Prob. Benign (0)
1219-Q Myopathy (1)
1220-E Prob. Benign (0)
1227-I Prob. Benign (0)
1231-R Prob. Benign (0)
1238-S Prob. Benign (0)
1240-G None
1242-P Prob. Benign (0)5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1243-Q Prob. Benign (0)
1246-P Prob. Benign (0)
1254-Y Prob. Benign (0)8 RYR2 - Brugada syndrome
1258-R None
1260-D Prob. Benign (0)
1265-T Prob. Benign (0)
1267-P Myopathy (3)
1268-C Prob. Benign (0)
1270-R Prob. Benign (0)
1272-T Prob. Benign (0)9 RYR3 - Hyperinsulinism
1273-H Prob. Benign (0)
1276-W Prob. Benign (0)
1277-G Prob. Benign (0)
1285-M Prob. Benign (0)
1286-L Prob. Benign (0)
1288-L Prob. Benign (0)
1289-R Prob. Benign (0)
1292-L Prob. Benign (0)
1293-P Myopathy (2)
1295-Q Prob. Benign (0)
1301-R Prob. Benign (0)
1312-P Prob. Benign (0)
1316-P Prob. Benign (0)
1317-P Prob. Benign (0)
1318-A Prob. Benign (0)
1319-E Prob. Benign (0)
1322-A Prob. Benign (0)
1323-R Prob. Benign (0)
1328-D Prob. Benign (0)
1330-D Prob. Benign (0)
1335-R Prob. Benign (0)
1336-R Prob. Benign (0)
1337-S Prob. Benign (0)
1342-S Conflict (4)
1344-A Prob. Benign (0)
1346-N Prob. Benign (0)
1347-G Prob. Benign (0)
1352-A Conflict (7)
1360-T Prob. Benign (0)
1361-P Prob. Benign (0)
1363-A Prob. Benign (0)
1364-G Prob. Benign (0)
1368-Q Prob. Benign (0)
1370-A Prob. Benign (0)
1371-R Prob. Benign (0)
1372-A Prob. Benign (0)
1374-N None
1393-K Conflict (8)
1394-K None
1396-A Prob. Benign (0)
1397-M Prob. Benign (0)
1402-P Prob. Benign (0)
1403-A Prob. Benign (0)
1405-P Prob. Benign (0)
1406-T Prob. Benign (0)
1407-L Prob. Benign (0)
1411-P Benign (0)
1412-H Prob. Benign (0)
1413-D Prob. Benign (0)
1414-V Prob. Benign (0)
1417-A Prob. Benign (0)
1419-N Prob. Benign (0)
1420-R Prob. Benign (0)
1423-P Prob. Benign (0)
1424-E Prob. Benign (0)
1425-I Prob. Benign (0)
1431-T Prob. Benign (0)
1436-V Prob. Benign (0)
1438-V Prob. Benign (0)
1443-E Prob. Benign (0)
1444-P Prob. Benign (0)
1447-V Prob. Benign (0)
1448-W Prob. Benign (0)
1449-A Prob. Benign (0)
1454-P Prob. Benign (0)
1457-H Prob. Benign (0)
1459-H Prob. Benign (0)
1460-D Prob. Benign (0)
1462-S Prob. Benign (0)
1464-D Prob. Benign (0)
1465-L Prob. Benign (0)
1467-K Myopathy (2)
1469-R Myopathy (5)
1471-V None
1475-M Prob. Benign (0)
1480-G Prob. Benign (0)
1482-V Prob. Benign (0)
1488-C Prob. Benign (0)
1489-S Prob. Benign (0)
1492-Y Prob. Benign (0)
1493-M Prob. Benign (0)
1494-V Prob. Benign (0)
1495-W None8 RYR2 - Sudden unexpected death in epilepsy
1496-G Prob. Benign (0)
1497-G Prob. Benign (0)
1499-F Prob. Benign (0)
1503-G Prob. Benign (0)
1507-R Prob. Benign (0)
1508-I Prob. Benign (0)
1511-T Prob. Benign (0)
1513-L Myopathy (1)
1523-T Other Disease (1)
1526-M Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1532-G Prob. Benign (0)
1537-T Prob. Benign (0)
1541-V Prob. Benign (0)
1546-K None
1551-V Prob. Benign (0)
1553-V Prob. Benign (0)
1559-N None8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1560-V Prob. Benign (0)
1566-G Prob. Benign (0)
1567-K Prob. Benign (0)
1571-I Conflict (7)
1573-P Myopathy (1)9 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
1577-A Myopathy (2)
1578-M Prob. Benign (0)
1582-E Prob. Benign (0)
1583-R Myopathy (2)
1586-P Prob. Benign (0)
1588-P Prob. Benign (0)
1589-Q None9 RYR2 - Sudden unexplained death
1591-P None9 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
1592-P Myopathy (1)
1598-M Prob. Benign (0)
1606-R Myopathy (1)
1611-F Prob. Benign (0)
1614-V Prob. Benign (0)
1616-T Prob. Benign (0)
1620-G Prob. Benign (0)
1622-R Prob. Benign (0)
1627-V Prob. Benign (0)
1632-P Benign (0)
1637-A Prob. Benign (0)
1645-R Myopathy (1)
1647-M Prob. Benign (0)
1655-R Prob. Benign (0)
1657-D Prob. Benign (0)
1659-Q Prob. Benign (0)
1660-R Prob. Benign (0)
1664-H Prob. Benign (0)
1667-R Benign (0)
1673-C Myopathy (1)
1676-G Prob. Benign (0)
1677-N Myopathy (1)
1678-N Prob. Benign (0)
1679-R Myopathy (8)
1682-H Prob. Benign (0)
1685-C Prob. Benign (0)
1689-D Prob. Benign (0)
1691-A Prob. Benign (0)
1693-L Prob. Benign (0)
1694-L None9 RYR2 - Brugada syndrome
1698-E Prob. Benign (0)
1700-A Prob. Benign (0)
1704-G Myopathy (1)
1707-R Myopathy (2)
1708-A Prob. Benign (0)
1711-Y Prob. Benign (0)
1719-L Prob. Benign (0)
1724-R Prob. Benign (0)
1727-R Prob. Benign (0)
1728-S Myopathy (5)
1729-M Myopathy (1)
1732-E Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1733-Y Prob. Benign (0)
1736-P Prob. Benign (0)
1741-T Prob. Benign (0)
1742-R Prob. Benign (0)
1745-T Prob. Benign (0)
1746-L Prob. Benign (0)
1751-R Prob. Benign (0)
1752-S Prob. Benign (0)
1753-T Prob. Benign (0)
1754-E Prob. Benign (0)
1757-H Prob. Benign (0)
1758-P Prob. Benign (0)
1759-R Prob. Benign (0)
1760-H Prob. Benign (0)
1761-G Prob. Benign (0)
1763-P Prob. Benign (0)
1770-S Prob. Benign (0)
1772-R Myopathy (1)
1773-P Prob. Benign (0)
1774-P Prob. Benign (0)9 RYR2 - Long QT syndrome
1775-H Prob. Benign (0)
1778-S Prob. Benign (0)
1779-P Prob. Benign (0)7 RYR2 - Sudden cardiac death
1780-P Prob. Benign (0)
1781-C Prob. Benign (0)
1783-V Prob. Benign (0)
1784-A Prob. Benign (0)
1787-P Benign (0)
1789-A Prob. Benign (0)
1795-P Prob. Benign (0)
1803-P Prob. Benign (0)
1806-A Prob. Benign (0)
1808-R Prob. Benign (0)
1809-D Prob. Benign (0)
1813-R None
1814-M Myopathy (1)
1820-R Prob. Benign (0)
1821-D Prob. Benign (0)
1823-G Prob. Benign (0)
1825-H Prob. Benign (0)
1826-A Prob. Benign (0)
1827-R Prob. Benign (0)
1830-V Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1832-G Prob. Benign (1)
1837-Q Myopathy (1)
1838-F Prob. Benign (0)
1842-L None
1851-M Prob. Benign (0)
1857-E None5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1859-V Prob. Benign (0)
1862-I Prob. Benign (0)
1867-E Prob. Benign (0)
1868-P Prob. Benign (0)
1869-E Prob. Benign (0)
1872-T Prob. Benign (0)
1878-E Benign (0)
1880-E Prob. Benign (0)
1881-E Prob. Benign (0)
1884-G Prob. Benign (0)
1886-E Prob. Benign (0)
1887-E Prob. Benign (0)
1888-D Prob. Benign (0)
1890-E Prob. Benign (0)
1891-E Prob. Benign (0)
1892-K Prob. Benign (0)
1897-E Prob. Benign (0)
1898-E Prob. Benign (0)
1900-A Prob. Benign (0)
1902-E Prob. Benign (0)2 RYR2 - Sudden unexpected death in infancy
1915-E Prob. Benign (0)
1916-G Prob. Benign (0)
1917-E Prob. Benign (0)
1918-K None3 RYR2 - Catecholaminergic polymorphic ventricular tachycar
1920-E Prob. Benign (0)
1925-G Prob. Benign (0)
1935-V Prob. Benign (0)
1941-H Prob. Benign (0)
1944-E Prob. Benign (0)
1950-E Prob. Benign (0)
1954-R Prob. Benign (0)
1956-E Prob. Benign (0)
1957-S Myopathy (1)
1962-A Prob. Benign (0)
1964-R Prob. Benign (0)
1966-V Prob. Benign (0)
1969-L Prob. Benign (0)
1974-R Prob. Benign (0)
1975-S Prob. Benign (0)
1976-R Prob. Benign (0)
1983-A Prob. Benign (0)
1988-A Prob. Benign (0)
1994-R Prob. Benign (0)
1997-E Other Disease (1)
1999-R Prob. Benign (0)
2000-S Prob. Benign (0)
2001-P Prob. Benign (0)
2002-P Prob. Benign (0)
2003-Q Prob. Benign (0)
2008-M Prob. Benign (0)
2013-K Myopathy (1)
2015-G Prob. Benign (0)
2016-T Prob. Benign (0)
2017-D Prob. Benign (0)
2018-E None
2024-P Prob. Benign (0)
2028-R Prob. Benign (0)
2035-H Myopathy (2)
2041-H Prob. Benign (0)
2042-C Prob. Benign (0)
2047-D Prob. Benign (0)
2049-E Prob. Benign (0)
2050-E Prob. Benign (0)
2053-P Prob. Benign (0)
2060-G Benign (0)
2062-R Prob. Benign (0)
2064-M Prob. Benign (0)
2065-S Prob. Benign (0)
2070-V Prob. Benign (0)
2071-R Prob. Benign (0)
2074-K Prob. Benign (0)
2076-K Prob. Benign (0)
2081-E Prob. Benign (0)4 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2083-E Prob. Benign (0)
2084-R Prob. Benign (0)
2085-S Prob. Benign (0)
2087-E Prob. Benign (0)
2088-E Prob. Benign (0)
2089-S Prob. Benign (0)
2092-R Prob. Benign (0)
2095-Q Prob. Benign (0)
2100-H Prob. Benign (0)
2101-M Prob. Benign (0)
2102-V Myopathy (1)
2104-R Prob. Benign (0)
2108-E Prob. Benign (0)
2111-V Prob. Benign (0)9 RYR2 - Ventricular fibrillation, idiopathic
2115-E Prob. Benign (0)
2117-V Myopathy (1)
2118-R Myopathy (1)
2120-M Prob. Benign (0)
2125-H Prob. Benign (0)
2129-D Myopathy (3)
2130-G Myopathy (1)
2132-G Other Disease (2)
2133-E Prob. Benign (0)
2136-R Prob. Benign (0)
2137-A Prob. Benign (0)
2140-R Prob. Benign (0)
2141-A Prob. Benign (0)
2146-P Prob. Benign (0)
2148-S Myopathy (1)
2149-V Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2153-M Prob. Benign (0)
2154-S Prob. Benign (0)
2157-E Prob. Benign (0)
2160-G Myopathy (3)
2163-R Myopathy (12)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2168-V Myopathy (5)
2171-G Prob. Benign (0)
2172-P Prob. Benign (0)
2174-E Prob. Benign (0)
2182-I Myopathy (1)
2183-G Prob. Benign (0)
2186-M Prob. Benign (0)
2188-N Prob. Benign (0)
2189-K None9 RYR2 - Colorectal cancer
2192-Y Prob. Benign (0)
2195-P Prob. Benign (0)
2200-A Myopathy (1)
2203-M Prob. Benign (0)
2204-H Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2205-E Prob. Benign (0)
2206-T Myopathy (7)
2210-V Myopathy (1)
2212-V Myopathy (1)
2214-V Myopathy (2)9 RYR2 - Sudden cardiac death
2218-G Prob. Benign (0)
2219-E Prob. Benign (0)
2222-E Prob. Benign (0)
2224-R Prob. Benign (0)
2227-K Prob. Benign (0)
2228-M None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2230-T Prob. Benign (0)
2234-R Prob. Benign (0)
2237-C Myopathy (1)
2238-Y Prob. Benign (0)
2239-F Prob. Benign (0)
2241-R Prob. Benign (0)
2242-I Prob. Benign (0)
2244-R Prob. Benign (0)
2247-Q Prob. Benign (0)
2248-R Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2249-S None7 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
2252-D Prob. Benign (0)5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2253-H Myopathy (1)7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2258-L Prob. Benign (0)
2259-E Prob. Benign (0)
2264-G None5 RYR2 - Long QT syndrome
2266-G Prob. Benign (0)
2267-M None
2269-G Prob. Benign (0)
2271-T Prob. Benign (0)
2272-P Prob. Benign (0)
2274-D Myopathy (1)
2275-V Prob. Benign (0)
2276-A Prob. Benign (0)
2279-S None8 RYR2 - Ventricular tachycardia, polymorphic
2280-V Myopathy (1)
2283-N Myopathy (2)
2284-N Prob. Benign (0)
2287-A Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
2288-L Myopathy (1)
2289-A Prob. Benign (0)
2295-L Prob. Benign (0)
2298-V Prob. Benign (0)
2300-S None9 RYR2 - Sudden infant death syndrome
2304-G Prob. Benign (0)
2311-P Prob. Benign (0)
2317-G Prob. Benign (0)
2320-D Prob. Benign (0)
2321-I Myopathy (5)
2324-N Prob. Benign (0)
2329-E None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2330-R Prob. Benign (0)
2336-R Myopathy (7)
2339-V None9 RYR2 - Ventricular tachycardia, polymorphic
2340-F Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2341-V Prob. Benign (0)9 RYR3 - Schizophrenia
2342-N Myopathy (11)
2343-G Prob. Benign (0)
2344-E Myopathy (1)8 RYR2 - Ventricular tachycardia, polymorphic
2345-S Myopathy (3)
2346-V Myopathy (1)
2347-E Prob. Benign (0)
2348-E Myopathy (1)
2349-N Prob. Benign (0)
2350-A Myopathy (4)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2351-N Prob. Benign (0)
2353-V Prob. Benign (0)
2354-V Myopathy (1)9 RYR2 - Sudden unexplained death
2355-R Myopathy (6)
2358-I Prob. Benign (0)
2359-R Myopathy (1)
2361-P None9 RYR2 - Ventricular tachycardia, polymorphic
2362-E Myopathy (1)
2364-F Myopathy (1)9 RYR2 - Ventricular tachycardia, polymorphic
2365-G Myopathy (1)
2366-P Myopathy (1)
2367-A Myopathy (2)
2368-L Prob. Benign (0)
2369-R Prob. Benign (0)
2370-G None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2371-E Myopathy (1)
2375-G Myopathy (2)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2378-A Prob. Benign (0)
2379-A None
2380-I Prob. Benign (0)
2381-E Prob. Benign (0)
2385-R Prob. Benign (0)
2386-I Prob. Benign (0)
2388-E Prob. Benign (0)
2390-P Prob. Benign (0)
2391-A Prob. Benign (0)
2392-R None6 RYR2 - Ventricular tachycardia, polymorphic
2393-D Prob. Benign (0)
2396-G Prob. Benign (0)
2398-R Prob. Benign (0)
2400-D Myopathy (1)
2401-R Prob. Benign (0)4 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
2402-R Prob. Benign (0)
2403-R Prob. Benign (0)
2404-E Myopathy (2)
2407-G Prob. Benign (0)
2410-P Prob. Benign (0)
2412-E None
2415-R Prob. Benign (0)
2418-L Prob. Benign (0)
2420-H None9 RYR2 - Arrhythmogenic right ventricular dysplasia type 2
2421-A Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
2422-I Prob. Benign (0)
2423-M Myopathy (2)
2424-S None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2426-Y Other Disease (2)5 RYR2 - Ventricular tachycardia, polymorphic
2428-A Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2430-I Prob. Benign (0)
2431-D Myopathy (4)
2434-G Myopathy (7)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2435-R Myopathy (11)9 RYR2 - Ventricular tachycardia, polymorphic
2436-C None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2437-A Myopathy (1)9 RYR2 - Ventricular tachycardia, polymorphic
2438-P None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2439-E Myopathy (1)
2440-M Prob. Benign (0)
2441-H Prob. Benign (0)
2445-A Prob. Benign (0)
2446-G Prob. Benign (0)
2450-A Prob. Benign (0)
2452-R Myopathy (7)
2453-I Myopathy (3)
2454-R Myopathy (5)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2455-A Prob. Benign (0)
2458-R Myopathy (12)
2462-P Prob. Benign (0)
2465-D Prob. Benign (0)
2466-L Prob. Benign (0)
2468-G Prob. Benign (0)
2469-I Prob. Benign (0)
2473-P None9 RYR2 - Cardiomyopathy, right ventricular
2474-L Prob. Benign (0)
2477-P Prob. Benign (0)
2478-T Prob. Benign (0)
2480-G Prob. Benign (0)
2482-D Prob. Benign (0)
2487-Q Prob. Benign (0)
2490-M Prob. Benign (0)
2494-F Prob. Benign (0)
2495-V Prob. Benign (0)
2496-P Myopathy (2)
2500-A Prob. Benign (0)
2503-V Prob. Benign (0)
2508-R Myopathy (12)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
2509-V None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2510-Y Myopathy (1)
2517-F None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2521-V Prob. Benign (0)
2529-D Myopathy (1)
2530-M Prob. Benign (0)
2532-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2535-S Prob. Benign (0)
2538-T Prob. Benign (0)9 RYR2 - Arrhythmogenic right ventricular dysplasia type 2
2539-A Prob. Benign (0)
2544-T Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2545-E Myopathy (3)
2547-A Prob. Benign (0)
2549-A Prob. Benign (0)
2550-L Prob. Benign (0)
2552-R Prob. Benign (0)
2558-V Prob. Benign (0)
2559-L Prob. Benign (0)
2560-P Prob. Benign (0)
2562-I Prob. Benign (0)
2564-K Other Disease (1)
2565-C Prob. Benign (0)
2566-A Prob. Benign (0)
2567-P Prob. Benign (0)9 RYR2 - Brugada syndrome
2568-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2569-F Prob. Benign (0)
2570-A Myopathy (1)
2571-G Prob. Benign (0)
2572-T Prob. Benign (0)
2573-E Prob. Benign (0)
2574-H Prob. Benign (0)
2575-R Prob. Benign (0)
2576-A Prob. Benign (0)
2577-I Prob. Benign (0)
2578-M Prob. Benign (0)
2579-V Prob. Benign (0)
2580-D Prob. Benign (0)
2581-S Prob. Benign (0)
2582-M Prob. Benign (0)
2585-T Prob. Benign (0)
2586-V Prob. Benign (0)
2587-Y Myopathy (1)
2588-R Prob. Benign (0)
2590-S Prob. Benign (0)
2591-R Myopathy (2)
2593-R Myopathy (1)
2594-S Prob. Benign (0)
2596-T Myopathy (1)
2598-A Prob. Benign (0)
2600-R Prob. Benign (0)
2602-V Prob. Benign (0)
2604-E Prob. Benign (0)
2605-D Prob. Benign (0)
2606-C Prob. Benign (0)
2607-L Prob. Benign (0)
2609-S Prob. Benign (0)
2610-L Prob. Benign (0)
2611-C Prob. Benign (0)
2612-R Prob. Benign (0)
2613-Y Prob. Benign (0)
2615-R Myopathy (1)
2617-S Prob. Benign (0)
2618-M Prob. Benign (0)
2621-H Prob. Benign (0)
2624-R Prob. Benign (0)
2625-R Prob. Benign (0)
2626-L Prob. Benign (0)
2627-V Myopathy (2)
2629-D Prob. Benign (0)
2630-V Prob. Benign (0)
2631-P Prob. Benign (0)
2632-I Prob. Benign (0)
2633-L Prob. Benign (0)
2634-N Prob. Benign (0)
2635-E Prob. Benign (0)
2639-M None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2641-L Prob. Benign (0)9 RYR2 - Cardiac arrhythmia
2642-K Prob. Benign (0)
2645-T Prob. Benign (0)
2646-N Prob. Benign (0)
2647-H Prob. Benign (0)
2650-R Prob. Benign (0)
2653-K Prob. Benign (0)
2655-Y Prob. Benign (0)
2659-T Prob. Benign (0)
2662-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2666-V Prob. Benign (0)
2668-S Prob. Benign (0)
2671-E Prob. Benign (0)
2676-R Myopathy (1)
2677-K Prob. Benign (0)
2679-F Prob. Benign (0)
2685-S Prob. Benign (0)
2688-H Prob. Benign (0)
2692-D Prob. Benign (0)
2693-P Prob. Benign (0)
2697-R Prob. Benign (0)
2698-M Arrhythmia (1)
2705-A Prob. Benign (0)
2712-P Prob. Benign (0)
2713-D Prob. Benign (0)
2717-A Prob. Benign (0)
2719-Y Prob. Benign (0)
2721-S Prob. Benign (0)
2722-K Prob. Benign (0)
2724-E Myopathy (1)
2726-K Prob. Benign (0)
2727-A Prob. Benign (0)
2730-D Myopathy (3)
2731-A Prob. Benign (0)
2733-G Myopathy (1)
2737-P Prob. Benign (0)
2738-R Prob. Benign (0)
2752-D Prob. Benign (0)
2753-S Prob. Benign (0)
2755-I None9 RYR2 - Sudden cardiac death
2757-K Prob. Benign (0)
2764-E Myopathy (2)
2767-A Prob. Benign (0)
2769-D Prob. Benign (0)
2772-Q Prob. Benign (0)
2776-S Conflict (3)
2777-Y Prob. Benign (0)
2780-N None
2781-I Prob. Benign (0)
2783-E Prob. Benign (0)
2785-L Myopathy (1)
2787-T Conflict (5)
2792-R Prob. Benign (0)
2793-P Prob. Benign (0)
2796-T Prob. Benign (0)
2803-E Prob. Benign (0)
2804-I Prob. Benign (0)
2805-Y Prob. Benign (0)
2806-R Prob. Benign (0)
2807-W None
2811-E Prob. Benign (0)
2814-K Prob. Benign (0)
2816-M Prob. Benign (0)
2817-I Prob. Benign (0)
2822-T Prob. Benign (0)
2829-G Prob. Benign (0)
2833-K Prob. Benign (0)
2834-T Prob. Benign (0)
2835-E Benign (0)
2838-K Prob. Benign (0)
2839-T Prob. Benign (0)
2840-R Myopathy (1)
2842-I Prob. Benign (0)
2843-S Myopathy (2)
2851-P Prob. Benign (0)
2856-N Prob. Benign (0)
2857-P Prob. Benign (0)
2858-Q None7 RYR2 - Long QT syndrome
2861-D Prob. Benign (0)
2864-A Prob. Benign (0)
2867-L Myopathy (1)
2873-A Prob. Benign (0)
2880-E Myopathy (1)
2884-N Prob. Benign (0)
2891-K Prob. Benign (0)
2892-Q Prob. Benign (0)
2896-A None
2897-K Prob. Benign (0)
2900-G Prob. Benign (0)
2902-H Prob. Benign (0)
2903-P Prob. Benign (0)
2904-L Prob. Benign (0)
2906-V Prob. Benign (0)
2909-D Prob. Benign (0)
2918-R Prob. Benign (0)
2923-A Prob. Benign (0)
2924-Q Prob. Benign (0)
2937-V Prob. Benign (0)
2938-T Prob. Benign (0)
2939-R Myopathy (3)
2942-K Prob. Benign (0)
2943-D Benign (0)
2948-S Prob. Benign (0)
2952-E Prob. Benign (0)
2961-Q Prob. Benign (0)
2963-L Myopathy (2)
2965-R Prob. Benign (0)
2966-W None5 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
2968-D Prob. Benign (0)
2984-G Prob. Benign (0)
2985-R Prob. Benign (0)
2987-E Prob. Benign (0)
2990-P Prob. Benign (0)
2993-Q None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
2997-F Prob. Benign (0)
2999-A Prob. Benign (0)
3005-L Prob. Benign (0)
3012-N Prob. Benign (0)
3016-Y Myopathy (1)
3021-P Myopathy (1)
3024-V Prob. Benign (0)
3028-G Prob. Benign (0)
3030-H Prob. Benign (0)
3031-A Prob. Benign (0)
3034-K Prob. Benign (0)
3038-M Prob. Benign (0)
3042-L Prob. Benign (0)
3050-V Prob. Benign (0)
3051-R Prob. Benign (0)
3052-H Prob. Benign (0)
3053-R Prob. Benign (0)
3055-S Prob. Benign (0)
3057-F Prob. Benign (0)
3061-A Prob. Benign (0)
3066-N Prob. Benign (0)
3073-R Prob. Benign (0)
3074-S Other Disease (1)
3077-A Prob. Benign (0)
3081-M Conflict (3)
3088-V Prob. Benign (0)
3097-E Prob. Benign (0)
3098-S Prob. Benign (0)
3099-A Prob. Benign (0)
3100-S Prob. Benign (0)
3101-E Prob. Benign (0)
3103-I Prob. Benign (0)
3104-E Myopathy (2)
3111-R Prob. Benign (0)
3114-K Prob. Benign (0)
3116-S Prob. Benign (0)
3118-A Prob. Benign (0)
3119-R Myopathy (1)
3120-T Prob. Benign (0)
3122-V Prob. Benign (0)
3125-V Prob. Benign (0)
3129-L Prob. Benign (0)
3131-Y Prob. Benign (0)
3132-T Prob. Benign (0)
3138-P Myopathy (1)
3142-T Prob. Benign (0)
3149-Q Prob. Benign (0)
3153-G Prob. Benign (0)
3154-D Prob. Benign (0)
3156-V Prob. Benign (0)
3158-L Prob. Benign (0)
3160-D Prob. Benign (0)
3161-V Prob. Benign (0)
3165-C Prob. Benign (0)
3166-Y Prob. Benign (0)
3170-C Prob. Benign (0)
3171-S Prob. Benign (0)
3172-I Prob. Benign (0)
3181-T Prob. Benign (0)
3185-K Prob. Benign (0)
3191-G Prob. Benign (0)
3193-C Myopathy (1)
3196-R Prob. Benign (0)
3201-M Prob. Benign (0)
3202-P Myopathy (1)
3206-L Prob. Benign (0)
3212-E Prob. Benign (0)
3213-Y None
3214-N Prob. Benign (0)
3215-A Prob. Benign (0)
3217-S Myopathy (1)
3218-V Prob. Benign (0)
3220-T Myopathy (1)
3224-P Prob. Benign (0)
3225-R Prob. Benign (0)
3226-E Myopathy (1)
3227-R Prob. Benign (0)
3233-P Prob. Benign (0)
3234-N Prob. Benign (0)
3235-S Prob. Benign (0)
3236-V Prob. Benign (0)
3238-E Myopathy (3)
3239-M Prob. Benign (0)
3241-P Prob. Benign (0)
3243-I Prob. Benign (0)
3245-V Prob. Benign (0)
3248-R Prob. Benign (0)
3249-L Prob. Benign (0)
3253-I Myopathy (2)
3254-G None7 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom
3256-L Prob. Benign (0)
3258-E Prob. Benign (0)
3259-S Prob. Benign (0)
3262-R Prob. Benign (0)
3266-M Prob. Benign (0)
3267-P Prob. Benign (0)
3268-H Prob. Benign (0)
3270-I Prob. Benign (0)
3271-E Myopathy (1)
3273-T Prob. Benign (0)
3276-M Prob. Benign (0)
3283-R Prob. Benign (0)
3284-W Myopathy (1)
3287-R Myopathy (0)
3288-G Prob. Benign (0)
3290-E Myopathy (1)
3291-A Prob. Benign (0)
3292-P Prob. Benign (0)
3295-A Prob. Benign (0)
3296-L Prob. Benign (0)
3298-A Prob. Benign (0)
3299-G Prob. Benign (0)
3300-A Prob. Benign (0)
3301-P Prob. Benign (0)
3302-P Prob. Benign (0)
3304-C Prob. Benign (0)
3306-A Prob. Benign (0)
3314-S Prob. Benign (0)
3318-N Prob. Benign (0)
3323-I Prob. Benign (0)
3324-V Prob. Benign (0)
3326-N Myopathy (2)
3330-D Myopathy (1)
3331-E Prob. Benign (0)
3337-R Prob. Benign (0)
3339-A Prob. Benign (0)
3340-V Prob. Benign (0)
3342-A Prob. Benign (0)
3343-Q None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3345-I Prob. Benign (0)
3347-S Prob. Benign (0)
3348-R Myopathy (3)
3349-A Prob. Benign (0)
3350-R Prob. Benign (0)
3353-L Prob. Benign (0)
3356-S Prob. Benign (0)
3361-T Prob. Benign (0)
3362-I Prob. Benign (0)
3363-G None
3366-R Conflict (7)
3367-K Myopathy (3)
3375-E Prob. Benign (0)
3376-E Prob. Benign (0)
3380-R Prob. Benign (0)
3383-A Prob. Benign (0)
3385-A Prob. Benign (0)
3395-R Prob. Benign (0)
3397-E Prob. Benign (0)
3402-C Myopathy (2)
3403-R Prob. Benign (0)
3407-A Other Disease (2)
3410-P Myopathy (1)
3412-L Prob. Benign (0)
3414-R Prob. Benign (0)
3416-V Prob. Benign (0)
3417-D Prob. Benign (0)
3425-T Prob. Benign (0)
3426-E Prob. Benign (0)
3427-P Prob. Benign (0)
3428-N Prob. Benign (0)
3429-P Prob. Benign (0)
3431-A Prob. Benign (0)
3436-R Prob. Benign (0)
3439-G Prob. Benign (0)
3448-S Myopathy (1)
3452-K Myopathy (1)
3453-R Prob. Benign (0)
3461-Q Other Disease (0)
3474-N Prob. Benign (0)
3478-M Prob. Benign (0)
3479-A Prob. Benign (0)
3481-A Prob. Benign (0)
3484-I Prob. Benign (0)
3485-Q Prob. Benign (0)
3487-G Prob. Benign (0)
3489-S Prob. Benign (0)
3491-Q Prob. Benign (0)
3493-R Prob. Benign (0)
3494-T Prob. Benign (0)
3495-K Prob. Benign (0)
3497-K Prob. Benign (0)
3498-R Prob. Benign (0)
3499-R Prob. Benign (0)
3500-G Prob. Benign (0)
3501-D Myopathy (1)
3502-R Prob. Benign (0)
3505-V Prob. Benign (0)
3507-T Prob. Benign (0)
3509-L Prob. Benign (0)
3511-V Prob. Benign (0)
3520-I Prob. Benign (0)
3521-G Myopathy (1)
3522-L Prob. Benign (0)
3526-A Prob. Benign (0)
3527-P Myopathy (1)
3528-T Prob. Benign (0)
3529-D Prob. Benign (0)
3530-Q Prob. Benign (0)
3531-D Prob. Benign (0)
3532-L Prob. Benign (0)
3533-I Prob. Benign (0)
3534-T Prob. Benign (0)
3536-A None
3539-R Myopathy (8)
3540-Y Prob. Benign (0)
3541-A Myopathy (2)
3542-L Prob. Benign (0)
3547-E Prob. Benign (0)
3550-R Prob. Benign (0)
3551-E Prob. Benign (0)
3555-N Prob. Benign (0)
3561-G Prob. Benign (0)
3568-S Prob. Benign (0)
3570-R Prob. Benign (0)
3577-R Prob. Benign (0)
3579-V Prob. Benign (0)
3580-P Prob. Benign (0)
3581-G Prob. Benign (0)
3582-R Prob. Benign (0)
3583-E Conflict (5)
3584-E Myopathy (1)
3587-D Prob. Benign (0)
3589-P Prob. Benign (0)
3590-E Prob. Benign (0)
3591-K Prob. Benign (0)
3593-V Prob. Benign (0)
3597-Q Prob. Benign (0)
3598-E Prob. Benign (0)
3601-A Prob. Benign (0)
3602-V None6 RYR2 - Sudden cardiac death
3606-L Myopathy (2)
3611-H Prob. Benign (0)
3614-K None9 RYR2 - Sudden unexpected death in infancy
3621-H Prob. Benign (0)
3622-K Prob. Benign (0)
3623-L Prob. Benign (0)
3629-R Prob. Benign (0)
3633-V Prob. Benign (0)
3636-F Prob. Benign (0)
3637-R Prob. Benign (0)
3639-T Prob. Benign (0)
3643-N Prob. Benign (0)
3647-H Benign (0)
3648-R Prob. Benign (0)
3649-A Prob. Benign (0)
3651-N Prob. Benign (0)
3652-M Prob. Benign (0)
3656-S Prob. Benign (0)
3657-Y Prob. Benign (0)
3659-A Prob. Benign (0)
3660-A Prob. Benign (0)
3666-D Prob. Benign (0)
3667-H Prob. Benign (0)
3668-S Prob. Benign (0)
3671-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3672-R Prob. Benign (0)
3674-I Prob. Benign (0)
3675-D Prob. Benign (0)
3689-E Prob. Benign (0)
3697-P Prob. Benign (0)
3707-R Myopathy (1)9 RYR2 - Long QT syndrome
3709-A Myopathy (1)
3711-T Prob. Benign (0)
3712-E Prob. Benign (0)
3713-K Prob. Benign (0)
3714-S Prob. Benign (0)
3717-D Prob. Benign (0)
3722-Y Myopathy (1)
3725-Y Prob. Benign (0)
3727-D Prob. Benign (0)
3728-I Prob. Benign (0)
3733-C Prob. Benign (0)
3735-L Prob. Benign (0)
3740-E Prob. Benign (0)
3742-G Prob. Benign (0)
3751-S Prob. Benign (0)
3756-Q Benign (0)
3757-M Prob. Benign (0)
3763-L Prob. Benign (0)
3766-Q Prob. Benign (0)
3772-R Myopathy (7)
3774-A Prob. Benign (0)
3777-M Prob. Benign (0)
3779-L Prob. Benign (0)
3780-Q Prob. Benign (0)
3796-T Prob. Benign (0)
3805-N Prob. Benign (0)
3806-G Myopathy (1)
3808-N Prob. Benign (0)
3809-A Prob. Benign (0)
3815-M Prob. Benign (0)
3816-L None7 RYR2 - Ventricular tachycardia, polymorphic
3817-D Prob. Benign (0)
3822-K Prob. Benign (0)
3833-A Prob. Benign (0)
3834-L Prob. Benign (0)
3837-T None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3838-C None9 RYR2 - Ventricular tachycardia, polymorphic
3839-S Prob. Benign (0)
3840-V Myopathy (2)
3843-L Prob. Benign (0)
3847-E Prob. Benign (0)9 RYR2 - Cardiomyopathy, hypertrophic
3848-R Prob. Benign (0)
3853-E Myopathy (3)
3860-E Prob. Benign (0)
3866-N Prob. Benign (0)
3867-R Prob. Benign (0)
3872-K Prob. Benign (0)
3874-M Prob. Benign (0)
3875-A Prob. Benign (0)
3890-L Prob. Benign (0)
3893-G Prob. Benign (0)
3895-N Prob. Benign (0)
3903-R Myopathy (1)
3905-Q None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3908-N Myopathy (1)
3909-T Prob. Benign (0)
3911-T Prob. Benign (0)
3912-I Prob. Benign (0)
3913-N Myopathy (1)
3916-I Myopathy (1)
3918-T Myopathy (1)
3920-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3923-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3924-R Prob. Benign (0)
3933-Y Conflict (8)
3938-G Myopathy (1)
3948-R Prob. Benign (0)
3955-S Prob. Benign (0)
3968-I Prob. Benign (0)
3969-Q Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
3974-G Prob. Benign (0)
3978-S Prob. Benign (0)
3981-H Conflict (2)
3982-S None9 RYR2 - Ventricular tachycardia, polymorphic
3983-R Myopathy (2)
3985-W Myopathy (2)
3986-D Myopathy (5)
3987-A None9 RYR2 - Sudden unexplained death
3989-V Prob. Benign (0)
3990-G Myopathy (3)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
3995-F Prob. Benign (0)
4000-M Prob. Benign (0)
4003-A None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4010-E Myopathy (1)
4014-E Prob. Benign (0)
4016-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4017-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4018-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4020-K Prob. Benign (0)
4021-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4022-M Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4023-V Prob. Benign (0)
4028-S Myopathy (1)
4033-N Prob. Benign (0)
4034-V Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4038-M Prob. Benign (0)
4040-A Prob. Benign (0)
4041-R Myopathy (3)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4043-M Prob. Benign (0)
4046-M Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4048-V Prob. Benign (0)
4050-S Myopathy (1)
4053-N Prob. Benign (0)
4054-V Prob. Benign (0)
4057-I Prob. Benign (0)
4062-D Prob. Benign (0)
4063-M Prob. Benign (0)
4064-F None5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4068-K Prob. Benign (0)
4070-I Prob. Benign (0)
4072-G Prob. Benign (0)
4073-S Prob. Benign (0)
4081-T Myopathy (1)
4084-R Prob. Benign (0)
4085-G None9 RYR2 - Long QT syndrome
4088-S Prob. Benign (0)
4094-K Prob. Benign (0)
4096-M Prob. Benign (0)
4097-D Prob. Benign (0)
4104-G Prob. Benign (0)
4108-Q Prob. Benign (0)
4112-S Myopathy (1)
4115-E Prob. Benign (0)
4117-D Prob. Benign (0)
4119-N Myopathy (1)
4120-E None9 RYR2 - Ventricular tachycardia, polymorphic
4129-N Prob. Benign (0)
4130-R Prob. Benign (0)
4133-E Myopathy (1)
4135-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4136-R Myopathy (1)
4137-D Prob. Benign (0)
4138-I Myopathy (1)
4141-N None9 RYR2 - Ventricular tachycardia, polymorphic
4143-A Prob. Benign (0)
4148-N None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4149-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4150-S Prob. Benign (0)
4152-H None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4153-V None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4154-P Prob. Benign (0)
4155-H Prob. Benign (0)
4159-L None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4160-H Prob. Benign (0)
4165-L Prob. Benign (0)
4166-A Prob. Benign (0)
4167-E Prob. Benign (0)
4168-S None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4175-P Prob. Benign (0)
4178-G Myopathy (1)
4179-R Myopathy (1)
4181-E Myopathy (1)
4183-M None9 RYR2 - Sudden unexplained death
4185-A Prob. Benign (0)
4187-R Prob. Benign (0)
4188-R Prob. Benign (0)5 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Sudden cardiac death
4189-I Prob. Benign (0)
4190-E None5 RYR2 - Long QT syndrome, Ventricular tachycardia, polymorphic
4191-R Prob. Benign (0)
4193-Y None5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4194-F Other Disease (1)
4195-E Prob. Benign (0)
4197-S None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4199-T None7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4200-N Prob. Benign (0)
4201-R None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4202-A None9 RYR2 - Ventricular tachycardia, polymorphic
4203-Q Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4207-P None
4210-K Myopathy (1)
4214-R Prob. Benign (0)
4221-V Prob. Benign (0)
4222-N None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4223-E Prob. Benign (0)
4229-K Myopathy (1)
4230-M Myopathy (1)
4231-E None5 RYR2 - Ventricular tachycardia, polymorphic
4232-L None5 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4234-V Myopathy (2)
4237-C None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4240-T Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
4244-M Prob. Benign (0)
4245-Q None9 RYR2 - Ventricular tachycardia, polymorphic
4248-A None9 RYR2 - Ventricular fibrillation, recurrent
4259-T Prob. Benign (0)
4263-E Benign (0)
4267-A Prob. Benign (0)
4268-A None
4269-E Prob. Benign (0)
4279-A Prob. Benign (0)
4282-L Other Disease (1)
4283-E Myopathy (1)
4286-A Prob. Benign (0)
4288-T Prob. Benign (0)
4289-A None
4290-A None
4291-A None
4293-A Prob. Benign (0)
4294-T Arrhythmia (1)
4295-A Conflict (3)
4296-R None
4300-A None
4318-R None
4319-R Prob. Benign (0)
4324-T None
4329-A Myopathy (2)
4331-A Other Disease (1)
4338-A Prob. Benign (0)
4342-R Prob. Benign (0)
4345-A Prob. Benign (0)
4347-G None7 RYR2 - Long QT syndrome
4353-G Prob. Benign (0)
4361-S Prob. Benign (0)
4363-F Prob. Benign (0)
4370-G Prob. Benign (0)
4375-T Prob. Benign (0)
4381-A None
4389-D Prob. Benign (0)
4393-G Prob. Benign (0)
4394-E Prob. Benign (0)
4403-A Prob. Benign (0)
4404-D Benign (0)
4407-G Prob. Benign (0)
4408-A Prob. Benign (0)
4410-E Prob. Benign (0)
4411-G None3 RYR2 - Cardiac arrhythmia
4412-A Prob. Benign (0)
4422-E Prob. Benign (0)
4424-E None
4425-A Prob. Benign (0)
4428-E Prob. Benign (0)
4447-R None3 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4448-P None
4449-E Prob. Benign (0)
4451-A None
4457-M Prob. Benign (0)
4461-T Prob. Benign (0)
4478-L Prob. Benign (0)
4487-L Prob. Benign (0)
4488-P Prob. Benign (0)
4489-P Prob. Benign (0)
4493-P Prob. Benign (0)6 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4494-E Prob. Benign (0)
4495-P Prob. Benign (0)
4500-E Prob. Benign (0)
4501-P Conflict (4)
4502-E Myopathy (2)
4505-D Conflict (9)
4510-E Prob. Benign (0)
4512-E Prob. Benign (0)
4514-V Prob. Benign (0)
4515-P Prob. Benign (0)
4516-E Prob. Benign (0)
4522-P Prob. Benign (0)
4523-K Prob. Benign (0)
4528-P Prob. Benign (0)
4530-P Prob. Benign (0)
4532-P None4 RYR2 - Sudden unexplained death
4535-E Prob. Benign (0)
4540-E Prob. Benign (0)
4541-F Prob. Benign (0)
4543-G Prob. Benign (0)
4549-R Prob. Benign (0)8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4558-R Myopathy (4)9 RYR2 - Ventricular tachycardia, polymorphic
4560-F None9 RYR2 - Ventricular tachycardia, polymorphic
4564-R Prob. Benign (0)
4565-F Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
4567-A Prob. Benign (0)
4568-L Myopathy (2)
4571-A Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
4580-F Prob. Benign (0)
4583-V Prob. Benign (0)
4587-P Myopathy (1)
4589-G Prob. Benign (0)
4590-E Prob. Benign (0)
4592-D None
4603-G Prob. Benign (0)
4609-S Prob. Benign (0)
4614-L Prob. Benign (0)
4616-A Prob. Benign (0)
4617-G Prob. Benign (0)
4622-G Prob. Benign (0)
4623-D Myopathy (1)
4624-E None5 RYR2 - Sudden unexplained death
4625-D Prob. Benign (0)
4628-M None7 RYR2 - Ventricular tachycardia, polymorphic
4629-V Myopathy (1)
4630-Y None8 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4631-Y Myopathy (3)
4634-E Myopathy (2)
4635-E Myopathy (1)
4636-S Prob. Benign (0)
4637-T Myopathy (3)9 RYR2 - Sudden infant death syndrome
4638-G Myopathy (6)
4640-M Myopathy (1)
4642-P Prob. Benign (0)
4643-A Myopathy (1)
4645-R Myopathy (1)
4647-L Myopathy (1)
4650-L Myopathy (2)
4651-H Myopathy (2)7 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4657-L Prob. Benign (0)
4658-C Prob. Benign (0)
4659-I Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4660-I Prob. Benign (0)
4664-C Myopathy (1)
4666-K None9 RYR2 - Long QT syndrome, Ventricular fibrillation, idiopathic
4667-V Prob. Benign (0)
4668-P Prob. Benign (0)
4670-V None9 RYR3 - Colorectal cancer
4672-F Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4674-R Prob. Benign (0)
4679-A None9 RYR2 - Ventricular tachycardia, polymorphic
4680-R None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Sudden unexplained death
4683-E None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4684-F Myopathy (1)
4687-L Prob. Benign (0)
4696-D Prob. Benign (0)
4702-W Prob. Benign (0)
4703-D None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4709-T Myopathy (4)
4710-P Prob. Benign (0)
4711-S Prob. Benign (0)
4713-P Prob. Benign (0)
4717-W Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4722-K None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4723-R Prob. Benign (0)
4724-K Myopathy (2)
4725-V None9 RYR2 - Ventricular tachycardia, polymorphic
4729-H Myopathy (1)
4730-G Prob. Benign (0)
4733-Y Myopathy (1)
4734-G Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4735-R Myopathy (1)
4737-R Myopathy (4)
4742-L None9 RYR2 - Arrhythmogenic right ventricular dysplasia/cardiom, Catecholaminergic polymorphic ventricular tachycar
4743-G Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4746-L Prob. Benign (0)
4747-A Prob. Benign (0)
4751-I Prob. Benign (0)
4753-A Prob. Benign (0)
4756-E Prob. Benign (0)
4757-R Prob. Benign (0)
4759-P Prob. Benign (0)
4761-P Prob. Benign (0)
4762-P Prob. Benign (0)
4765-L Prob. Benign (0)
4769-L Prob. Benign (0)
4772-I Prob. Benign (0)
4773-D Prob. Benign (0)
4777-Q Prob. Benign (0)
4782-G Myopathy (1)
4788-N Prob. Benign (0)
4793-L Myopathy (2)
4795-W Prob. Benign (0)
4796-Y Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4798-V Prob. Benign (0)
4804-H Myopathy (1)
4806-N Myopathy (1)
4807-N Prob. Benign (0)
4808-F Myopathy (2)
4809-F Myopathy (1)
4811-A Myopathy (0)
4812-A None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4813-H Myopathy (1)9 RYR2 - Sudden cardiac death
4814-L Myopathy (2)
4816-D Myopathy (1)
4817-I Myopathy (1)
4820-G Myopathy (1)
4821-V Prob. Benign (0)
4822-K None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4823-T Myopathy (1)
4824-L Myopathy (1)
4825-R Myopathy (3)
4826-T Myopathy (6)
4827-I None
4833-H Myopathy (4)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4838-L Myopathy (1)
4842-V Myopathy (3)9 RYR2 - Ventricular tachycardia, polymorphic
4846-A Myopathy (2)
4847-V Myopathy (2)
4849-V Myopathy (8)
4850-Y Myopathy (1)
4852-Y None
4853-T Myopathy (2)
4855-V Prob. Benign (0)
4856-A Myopathy (1)
4858-N Myopathy (2)
4860-F Myopathy (1)
4861-R Myopathy (9)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4862-K Myopathy (1)
4864-Y Myopathy (2)
4865-N Prob. Benign (0)
4867-S Myopathy (1)
4868-E Prob. Benign (0)
4869-D Prob. Benign (0)
4870-E None9 RYR3 - Epileptic encephalopathy
4874-D Prob. Benign (0)
4876-K Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4880-M Myopathy (1)
4881-M Myopathy (1)
4882-T Myopathy (1)
4886-F Myopathy (1)
4887-H Myopathy (2)
4891-G Myopathy (3)
4892-V None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4893-R Myopathy (12)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4894-A Myopathy (5)
4897-G Myopathy (4)
4898-I Myopathy (13)9 RYR3 - Schizophrenia
4899-G Myopathy (6)
4901-E Prob. Benign (0)
4903-E Prob. Benign (0)
4906-A Myopathy (4)
4907-G Myopathy (1)
4908-D Myopathy (1)
4909-E Prob. Benign (0)
4910-Y Prob. Benign (0)
4911-E Myopathy (1)
4914-R Myopathy (5)
4917-F Myopathy (1)
4918-D Myopathy (1)
4919-I None9 RYR2 - Ventricular tachycardia, polymorphic
4920-T Myopathy (3)
4921-F Myopathy (2)
4922-F None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4926-I Prob. Benign (0)
4927-V Myopathy (1)
4928-I Prob. Benign (0)
4931-A Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
4935-G Myopathy (2)
4936-L Myopathy (1)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4938-I Myopathy (3)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4939-D Myopathy (2)
4940-A Myopathy (3)
4941-F Myopathy (1)
4942-G Myopathy (1)
4951-V None9 RYR2 - Ventricular tachycardia, polymorphic
4960-F Myopathy (1)
4961-I Prob. Benign (0)
4966-S None9 RYR2 - Ventricular tachycardia, polymorphic
4967-D Prob. Benign (0)
4971-T Prob. Benign (0)
4972-T Prob. Benign (0)
4973-P Myopathy (4)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar, Ventricular tachycardia, polymorphic
4974-H Prob. Benign (0)
4975-G None9 RYR2 - Cardiac arrest
4976-F Myopathy (3)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4977-E Prob. Benign (0)
4978-T Prob. Benign (0)
4980-T Myopathy (1)
4981-L Prob. Benign (0)
4985-N Prob. Benign (0)
4988-N Prob. Benign (0)
4990-M None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
4994-M Prob. Benign (0)
5005-T Prob. Benign (0)
5006-G None9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
5007-Q Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
5009-S Prob. Benign (0)
5020-W Myopathy (2)
5021-D Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
5023-F Prob. Benign (0)
5026-G None9 RYR2 - Intellectual disability
5030-R Prob. Benign (0)9 RYR2 - Ventricular tachycardia, polymorphic
5033-Y Prob. Benign (0)9 RYR2 - Catecholaminergic polymorphic ventricular tachycar
5037-L Prob. Benign (0)