Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	SNV Germline	Chr19:38457545	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Inborn genetic diseases Malignant hyperthermia of anesthesia enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024311	rs_118192172	32 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	SNV Germline	Chr19:38499997	Pathogenic; drug response	Central core myopathy Condition: not provided RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024750	rs_28933396	11 SubmittersRCV000013832 RCV000119699 RCV000707405 RCV001787396 RCV001787398 RCV001787399 RCV001787400 RCV001787401 RCV001787395 RCV001787397 RCV002281705 RCV004017238 RCV005409599
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	SNV Germline	Chr19:38444211	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA018598	rs_118192161	13 SubmittersRCV000013833 RCV000013834 RCV000119625 RCV000806352 RCV001787706 RCV001787708 RCV001787710 RCV001787711 RCV001787402 RCV001787707 RCV001787709 RCV004017239
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	SNV Germline	Chr19:38499993	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Malignant hyperthermia of anesthesia methoxyflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity Central core myopathy isoflurane response - Toxicity sevoflurane response - Toxicity Inborn genetic diseases King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024747	rs_121918593	34 SubmittersRCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787723 RCV001787725 RCV001787719 RCV001787720 RCV001787721 RCV002288488 RCV001787722 RCV001787724 RCV002513026 RCV005025050
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	SNV Germline	Chr19:38500654	Likely pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024784	rs_28933397	13 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	SNV Germline	Chr19:38494564	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder desflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity enflurane response - Toxicity Inborn genetic diseases	Reviewed By Expert Panel	CA024590	rs_118192175	12 SubmittersRCV000013840 RCV000056223 RCV000119653 RCV001385701 RCV001787740 RCV001787742 RCV001787743 RCV001787744 RCV001787745 RCV001787746 RCV001787741 RCV005722088
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	SNV Germline	Chr19:38494565	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder desflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity	Reviewed By Expert Panel	CA024593	rs_118192163	9 SubmittersRCV000013841 RCV000013842 RCV000119654 RCV001204982 RCV001787747 RCV001787749 RCV001787751 RCV001787752 RCV001787753 RCV001787748 RCV001787750
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	SNV Germline	Chr19:38494579	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Central core myopathy isoflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024603	rs_118192176	12 SubmittersRCV000013845 RCV000119656 RCV000578323 RCV000557804 RCV001729347 RCV001787764 RCV001787766 RCV001787761 RCV001787762 RCV001787763 RCV001787765 RCV001787767 RCV003398498
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	SNV Germline	Chr19:38496283	Pathogenic	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Absence of the sacrum Ptosis History of neonatal hypotonia Malignant hyperthermia of anesthesia RYR1-related disorder King Denborough syndrome King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to Inborn genetic diseases King Denborough syndrome Central core myopathy	Reviewed By Expert Panel	CA024622	rs_118192177	26 SubmittersRCV000013846 RCV000119662 RCV000162149 RCV000606881 RCV000655558 RCV001729348 RCV005016260 RCV004556715 RCV004658961 RCV005624685
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	SNV Germline	Chr19:38580440	Conflicting classifications of pathogenicity; drug response	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity Malignant hyperthermia of anesthesia RYR1-related myopathy	Reviewed By Expert Panel	CA024187	rs_63749869	16 SubmittersRCV000013852 RCV000119533 RCV000534187 RCV000851296 RCV001787783 RCV001787785 RCV001787786 RCV001787787 RCV001787788 RCV001787782 RCV001787784 RCV004017241 RCV004991972
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	SNV Germline	Chr19:38443612	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	19 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003447473 RCV003996093 RCV004586005 RCV005003354
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	SNV Germline	Chr19:38499961	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Clubfoot EMG abnormality Lower limb amyotrophy Congenital myopathy with fiber type disproportion RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	12 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)	SNV Germline	Chr19:38572181	Pathogenic/Likely pathogenic	Central core myopathy Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA024078	rs_118192166	6 SubmittersRCV000013864 RCV000119487 RCV001824568 RCV001851836
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	SNV Germline	Chr19:38519399	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy not specified RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA023822	rs_367543058	15 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181 RCV004786294 RCV005252703 RCV005394216
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	SNV Germline	Chr19:38451846	Likely pathogenic	Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA023960	rs_118192117	3 SubmittersRCV000034926 RCV000056214 RCV000119451 RCV005089338
NM_000540.3(RYR1):c.10348-6C>G	SNV Germline	Chr19:38523211	Pathogenic	Condition: not provided RYR1-related disorder Inborn genetic diseases King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Myopathy, RYR1-associated Centronuclear myopathy Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome RYR1-related myopathy Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA023836	rs_193922837	20 SubmittersRCV000119410 RCV000535801 RCV000624604 RCV001249074 RCV001775081 RCV003997313 RCV004689614 RCV004586556 RCV005003479 RCV005359124 RCV005430496 RCV005867906
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)	SNV Unknown	Chr19:38565320	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024025	rs_118192129	2 SubmittersRCV000056171 RCV000119471
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)	SNV Germline	Chr19:38580395	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024167	rs_118192143	6 SubmittersRCV000056172 RCV000119525 RCV001390401 RCV003996484
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)	SNV Germline	Chr19:38585013	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA024241	rs_118192153	5 SubmittersRCV000056173 RCV000119555 RCV002513729
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)	SNV Germline	Chr19:38572172	Pathogenic	Condition: not provided Central core myopathy	Criteria Provided Single Submitter	CA024076	rs_118192133	3 SubmittersRCV000119486 RCV000056181
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)	SNV Germline	Chr19:38585058	Pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA024251	rs_118192156	4 SubmittersRCV000056186 RCV000119560 RCV001854161
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)	SNV Germline	Chr19:38572184	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024082	rs_118192136	4 SubmittersRCV000056190 RCV000119489 RCV000687662 RCV004804032
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)	SNV Unknown	Chr19:38584967	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024215	rs_118192149	2 SubmittersRCV000056192 RCV000119544
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)	SNV Unknown	Chr19:38584986	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024231	rs_118192148	2 SubmittersRCV000056194 RCV000119551
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)	SNV Germline	Chr19:38584992	Pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA024237	rs_118192183	3 SubmittersRCV000056195 RCV000119554 RCV001382210
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)	SNV Germline	Chr19:38572224	Pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA024093	rs_118192139	4 SubmittersRCV000056198 RCV000119494 RCV003591653
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)	SNV Germline	Chr19:38584955	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA024212	rs_118192147	3 SubmittersRCV000056199 RCV000119542 RCV004528261
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)	SNV Germline	Chr19:38500640	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024775	rs_118192123	5 SubmittersRCV000056200 RCV000119708 RCV001383435 RCV001588885
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)	SNV Germline	Chr19:38527777	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA023862	rs_118192127	3 SubmittersRCV000056205 RCV000119419 RCV005089462
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)	SNV Germline	Chr19:38570650	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024069	rs_118192131	4 SubmittersRCV000056206 RCV000119484 RCV001066791
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)	SNV Germline	Chr19:38579995	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024130	rs_118192179	4 SubmittersRCV000056209 RCV000119508 RCV001854162
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)	SNV Unknown	Chr19:38580057	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024141	rs_118192142	2 SubmittersRCV000056211 RCV000119514
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp)	SNV Unknown	Chr19:38580430	Pathogenic	Condition: not provided Central core myopathy	No Assertion Criteria Provided	CA024174	rs_118192144	2 SubmittersRCV000119529 RCV000056216
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	SNV Germline	Chr19:38500636	Likely pathogenic; drug response	Central core myopathy Condition: not provided RYR1-related disorder King Denborough syndrome desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024770	rs_118192124	16 SubmittersRCV000056226 RCV000119706 RCV000527240 RCV001729374 RCV001787847 RCV001787849 RCV001787848 RCV001787850 RCV001787851 RCV001787852 RCV001787853 RCV002221195 RCV002281899
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	SNV Germline	Chr19:38500643	Pathogenic; drug response	Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder halothane response - Toxicity methoxyflurane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity desflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia of anesthesia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA024781	rs_118192122	18 SubmittersRCV000056227 RCV000119710 RCV000709760 RCV000699835 RCV001787856 RCV001787858 RCV001787855 RCV001787857 RCV001787854 RCV001787859 RCV001787860 RCV004700357 RCV005016355
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	SNV Germline	Chr19:38500898	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Inborn genetic diseases Congenital myopathy with fiber type disproportion Abnormality of the musculature King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024819	rs_118192178	13 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)	SNV Germline	Chr19:38506952	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024952	rs_118192125	5 SubmittersRCV000056229 RCV000119763 RCV001383436 RCV003996487
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)	SNV Germline	Chr19:38580090	Pathogenic/Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Lynch syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA024150	rs_118192180	6 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)	SNV Unknown	Chr19:38584974	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024223	rs_118192151	2 SubmittersRCV000056234 RCV000119547
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	SNV Germline	Chr19:38584973	Pathogenic/Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA024220	rs_118192150	9 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)	SNV Germline	Chr19:38585036	Pathogenic	Central core myopathy Condition: not provided	Criteria Provided Single Submitter	CA024242	rs_118192184	3 SubmittersRCV000056237 RCV000119556
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)	SNV Germline	Chr19:38585037	Pathogenic	Central core myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA024244	rs_118192154	4 SubmittersRCV000056238 RCV000119557
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)	SNV Germline	Chr19:38572182	Pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA024080	rs_118192134	4 SubmittersRCV000056242 RCV000119488 RCV000536286
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)	SNV Germline	Chr19:38585055	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA024246	rs_118192155	3 SubmittersRCV000056244 RCV000119558 RCV005089463
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)	SNV Unknown	Chr19:38572163	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024074	rs_118192132	2 SubmittersRCV000056249 RCV000119485
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)	SNV Germline	Chr19:38580449	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024196	rs_118192146	3 SubmittersRCV000056251 RCV000119535
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)	SNV Germline	Chr19:38565213	Conflicting classifications of pathogenicity	Condition: not provided not specified Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia	Criteria Provided Conflicting Classifications	CA024015	rs_193922854	14 SubmittersRCV000079126 RCV000252273 RCV000354942 RCV000355907 RCV000415696 RCV001083097 RCV002051651
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)	SNV Germline	Chr19:38586161	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder not specified Centronuclear myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia RYR1-related myopathy	Criteria Provided Conflicting Classifications	CA024280	rs_398123471	7 SubmittersRCV000079134 RCV000801203 RCV004700390 RCV004795343 RCV005025133 RCV005250014
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)	SNV Germline	Chr19:38494436	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024569	rs_398123473	6 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)	SNV Germline	Chr19:38502629	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024844	rs_114975624	8 SubmittersRCV000079168 RCV000147443 RCV000276971 RCV000307589 RCV000329613 RCV001079993
NM_000243.3(MEFV):c.1261-28A>G	SNV Germline	Chr16:3249032	Conflicting classifications of pathogenicity	Familial Mediterranean fever Central core myopathy Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280388	rs_104895140	6 SubmittersRCV000083690 RCV001258254 RCV001711585 RCV003126423 RCV003126424
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	SNV Germline	Chr19:38534775	Likely pathogenic	Condition: not provided Progressive distal muscle weakness Pelvic girdle muscle weakness Delayed gross motor development Proximal muscle weakness Scoliosis Malignant hyperthermia of anesthesia Neuromuscular disease RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA023909	rs_193922839	16 SubmittersRCV000119432 RCV000415300 RCV000610269 RCV001244597 RCV002281938 RCV003258668 RCV005620342
NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)	SNV Germline	Chr19:38543365	Likely pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Reviewed By Expert Panel	CA023926	rs_148399313	8 SubmittersRCV000119437 RCV001389265 RCV001580388 RCV004017404 RCV004796024
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	SNV Germline	Chr19:38440829	Likely pathogenic; drug response	Condition: not provided RYR1-related disorder sevoflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity Central core myopathy Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy	Reviewed By Expert Panel	CA024034	rs_193922748	13 SubmittersRCV000119473 RCV001238887 RCV001787949 RCV001588936 RCV001787944 RCV001787945 RCV001787946 RCV001787947 RCV001787948 RCV001787950 RCV003338417 RCV004689616 RCV005025189
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)	SNV Germline	Chr19:38577954	Likely pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia of anesthesia Central core myopathy	Reviewed By Expert Panel	CA024116	rs_193922867	8 SubmittersRCV000119502 RCV001070022 RCV001449998 RCV004820832
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	SNV Germline	Chr19:38577955	Pathogenic	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024118	rs_193922868	12 SubmittersRCV000119503 RCV001380753 RCV002498548 RCV003231155
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)	SNV Germline	Chr19:38580503	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024204	rs_193922884	7 SubmittersRCV000119538 RCV000695746 RCV002288602 RCV006547612
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	SNV Germline	Chr19:38586140	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Inborn genetic diseases	Reviewed By Expert Panel	CA024276	rs_146876145	24 SubmittersRCV000119571 RCV000148804 RCV000605381 RCV000554319 RCV001249254 RCV001729396 RCV005003480 RCV004658969
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	SNV Germline	Chr19:38455463	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder King Denborough syndrome Malignant hyperthermia of anesthesia Inborn genetic diseases Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024291	rs_111888148	22 SubmittersRCV000119576 RCV000148805 RCV000655554 RCV001249073 RCV001449797 RCV004658970 RCV005016407
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)	SNV Germline	Chr19:38455471	Pathogenic; drug response	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 enflurane response - Toxicity isoflurane response - Toxicity desflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy	Reviewed By Expert Panel	CA024293	rs_193922768	10 SubmittersRCV000119577 RCV000802081 RCV001588943 RCV003227650 RCV003227652 RCV003227649 RCV003227651 RCV003227653 RCV003227654 RCV003227655 RCV004700425 RCV005016408
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)	SNV Germline	Chr19:38455528	Likely pathogenic; drug response	Condition: not provided RYR1-related disorder desflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Reviewed By Expert Panel	CA024299	rs_193922770	7 SubmittersRCV000119581 RCV000536735 RCV001787965 RCV001787967 RCV001787969 RCV001787966 RCV001787968 RCV001787970 RCV001787971 RCV002281942 RCV003325460
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	SNV Germline	Chr19:38457546	Pathogenic; drug response	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Reviewed By Expert Panel	CA024313	rs_193922772	9 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002222024 RCV002222025 RCV002222026 RCV002477305
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	SNV Germline	Chr19:38485838	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia Inborn genetic diseases Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Acute rhabdomyolysis	Reviewed By Expert Panel	CA024494	rs_193922781	17 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055 RCV005865238
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)	SNV Germline	Chr19:38490249	Likely pathogenic	Condition: not provided Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Single Submitter	CA024548	rs_193922787	2 SubmittersRCV000119645 RCV003224799
NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)	SNV Germline	Chr19:38496265	Likely pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024615	rs_193922791	10 SubmittersRCV000119659 RCV000688108 RCV001580442 RCV001823114 RCV005417967
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	SNV Germline	Chr19:38496901	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 not specified RYR1-related disorder Malignant hyperthermia of anesthesia Inborn genetic diseases Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024651	rs_193922797	20 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV003323407 RCV005268555 RCV005003481
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	SNV Germline	Chr19:38499223	Pathogenic; drug response	Condition: not provided RYR1-related disorder halothane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Reviewed By Expert Panel	CA024662	rs_112563513	11 SubmittersRCV000119673 RCV000554523 RCV001787974 RCV001787976 RCV001787978 RCV001787975 RCV001787977 RCV001787972 RCV001787973 RCV001824615 RCV002281943 RCV004698826 RCV005409618
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	SNV Germline	Chr19:38499670	Pathogenic; drug response	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Central core myopathy	Reviewed By Expert Panel	CA024693	rs_193922803	14 SubmittersRCV000119682 RCV000578408 RCV000803469 RCV000763425 RCV001787994 RCV001787999 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787993 RCV002281944 RCV004017408 RCV004813060
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	SNV Germline	Chr19:38499975	Likely pathogenic; drug response	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Inborn genetic diseases Malignant hyperthermia, susceptibility to	Reviewed By Expert Panel	CA024738	rs_193922809	16 SubmittersRCV000119695 RCV001127650 RCV001236218 RCV001788008 RCV001788010 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV002492410 RCV004019662 RCV004556734
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)	SNV Germline	Chr19:38499984	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Autosomal dominant and autosomal recessive RYR1-related disorders	Reviewed By Expert Panel	CA024741	rs_193922810	11 SubmittersRCV000119696 RCV000148824 RCV001854585 RCV004525874 RCV005025190 RCV006554458
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)	SNV Germline	Chr19:38469078	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024401	rs_559581937	8 SubmittersRCV000147421 RCV001237337 RCV003338423 RCV005016466 RCV005411352 RCV006547638
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)	SNV Germline	Chr19:38475382	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024435	rs_587784376	6 SubmittersRCV000147427 RCV001057643 RCV003998164 RCV005016467 RCV005431490
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	SNV Germline	Chr19:38496466	Conflicting classifications of pathogenicity	Condition: not provided Multi-minicore disease and atypical periodic paralysis Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Neuromuscular disease RYR1-related disorder Hydrops fetalis Central core myopathy Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024643	rs_200563280	27 SubmittersRCV000147436 RCV000148787 RCV000178453 RCV000171129 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131 RCV005394501
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	SNV Germline	Chr19:38516111	Conflicting classifications of pathogenicity	Condition: not provided Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024994	rs_587784379	7 SubmittersRCV000147451 RCV000855485 RCV001036190 RCV001004921 RCV003998165
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	SNV Germline	Chr19:38459253	Conflicting classifications of pathogenicity	Myopathy, RYR1-associated not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024341	rs_147320363	18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002492546 RCV002514856 RCV005252771
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	SNV Germline	Chr19:38543420	Conflicting classifications of pathogenicity	Congenital myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA023934	rs_377178986	14 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416 RCV004786401
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)	SNV Germline	Chr19:38502967	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024874	rs_142558977	8 SubmittersRCV000245786 RCV000282044 RCV000335516 RCV000337138 RCV000721683 RCV001085362
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)	SNV Germline	Chr19:38505910	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024923	rs_144777676	10 SubmittersRCV000179139 RCV000526318 RCV000765450 RCV000680153 RCV001122357 RCV001122358
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)	SNV Germline	Chr19:38543564	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA023939	rs_794727946	6 SubmittersRCV000180427 RCV001852247 RCV002500520 RCV003996587 RCV004586602
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	SNV Germline	Chr19:38561329	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA023986	rs_772494345	4 SubmittersRCV000721273 RCV002492793 RCV003591696
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)	SNV Germline	Chr19:38565378	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA024031	rs_794727985	5 SubmittersRCV000180735 RCV000543194 RCV002503701
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)	SNV Germline	Chr19:38467732	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA024393	rs_145088074	5 SubmittersRCV000182605 RCV000785928 RCV001852321 RCV003996724 RCV005437976
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	SNV Germline	Chr19:38546515	Conflicting classifications of pathogenicity	Inborn genetic diseases RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA023962	rs_794728696	14 SubmittersRCV000210653 RCV000542897 RCV000721259 RCV002288788 RCV003147380 RCV003114333 RCV004795344
NM_000540.3(RYR1):c.14304-6C>A	SNV Germline	Chr19:38578138	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024125	rs_794728693	4 SubmittersRCV000182600 RCV000702407 RCV002485210 RCV006547753
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)	SNV Germline	Chr19:38586150	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Central core myopathy Malignant hyperthermia of anesthesia Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024278	rs_368874586	9 SubmittersRCV000210545 RCV000721408 RCV000793270 RCV001449967 RCV002051687 RCV004556761 RCV004804789
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)	SNV Germline	Chr19:38580504	Conflicting classifications of pathogenicity	not specified RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061474	rs_536148030	5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)	SNV Germline	Chr19:38502946	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy not specified RYR1-related disorder Condition: not provided Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA071016	rs_148041292	12 SubmittersRCV000209968 RCV000765449 RCV000678749 RCV000800203 RCV001356636 RCV005625449
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	SNV Germline	Chr19:38536758	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Exercise-induced myalgia Myalgia Elevated circulating creatine kinase concentration Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA057247	rs_138593495	6 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)	SNV Germline	Chr19:38453012	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10575982	rs_878854375	3 SubmittersRCV000231682 RCV000721364 RCV005431554
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	SNV Germline	Chr19:38458154	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16616833	rs_878854365	6 SubmittersRCV000550931 RCV001782728 RCV005003587 RCV006547898
NM_000540.3(RYR1):c.10347+1G>A	SNV Germline	Chr19:38523116	Pathogenic	Inborn genetic diseases Condition: not provided Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related myopathy	Reviewed By Expert Panel	CA053108	rs_111436401	11 SubmittersRCV000210710 RCV000521927 RCV000763426 RCV000695241 RCV000995628 RCV002259320 RCV005025343 RCV005859342
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)	SNV Germline	Chr19:38534781	Conflicting classifications of pathogenicity	Malignant hypothermia Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA056720	rs_146361173	9 SubmittersRCV000239317 RCV000520252 RCV000706929 RCV002487106 RCV006547911
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=)	SNV Germline	Chr19:38475426	Conflicting classifications of pathogenicity	not specified Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA065808	rs_2229141	5 SubmittersRCV000245577 RCV001128373 RCV001128374 RCV001128375 RCV002057380
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)	SNV Germline	Chr19:38478468	Conflicting classifications of pathogenicity	not specified Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10587311	rs_886038331	5 SubmittersRCV000252142 RCV001122763 RCV001128461 RCV001122764 RCV002057382
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)	SNV Germline	Chr19:38483056	Conflicting classifications of pathogenicity	not specified Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA066336	rs_200600174	6 SubmittersRCV000243315 RCV000292256 RCV000351827 RCV000395496 RCV001487929
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)	SNV Germline	Chr19:38499242	Conflicting classifications of pathogenicity	not specified RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA068977	rs_202061237	7 SubmittersRCV000249710 RCV000691898 RCV000721630 RCV001127567 RCV001127566 RCV001125453
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)	SNV Germline	Chr19:38502920	Conflicting classifications of pathogenicity	not specified Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA070955	rs_145446438	6 SubmittersRCV000249188 RCV000721679 RCV001083040 RCV001125806 RCV001125805 RCV001125807
NM_000540.3(RYR1):c.11260-13C>T	SNV Germline	Chr19:38534707	Conflicting classifications of pathogenicity	not specified Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA056599	rs_540088883	5 SubmittersRCV000243303 RCV001131438 RCV001131437 RCV001131439 RCV002057370
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)	SNV Germline	Chr19:38586570	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA061956	rs_2229149	7 SubmittersRCV000241903 RCV000277489 RCV000332546 RCV000308165 RCV001080361 RCV004721322
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)	SNV Germline	Chr19:38580033	Pathogenic/Likely pathogenic	Condition: not provided not specified RYR1-related disorder Abnormality of the musculature RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA10588687	rs_886039586	9 SubmittersRCV000255902 RCV000784911 RCV001047738 RCV001814134 RCV003761884 RCV005625491
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)	SNV Germline	Chr19:38527014	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder Inborn genetic diseases not specified Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy King Denborough syndrome	Criteria Provided Conflicting Classifications	CA054285	rs_536304635	13 SubmittersRCV000280179 RCV000338681 RCV000398390 RCV000656969 RCV000818112 RCV001266921 RCV001731554 RCV005016666
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)	SNV Germline	Chr19:38570637	Conflicting classifications of pathogenicity	RYR1-related disorder Inborn genetic diseases Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA060399	rs_753208767	9 SubmittersRCV000533233 RCV000623983 RCV000721328 RCV003995761 RCV003338497
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)	SNV Germline	Chr19:38578184	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA061124	rs_746538672	10 SubmittersRCV000725566 RCV001042937 RCV002519169 RCV003995775 RCV005355592
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)	SNV Germline	Chr19:38485635	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia not specified	Criteria Provided Conflicting Classifications	CA066575	rs_374115286	8 SubmittersRCV000721571 RCV001081976 RCV001123942 RCV001123941 RCV001123943 RCV005055836
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)	SNV Germline	Chr19:38478461	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA066143	rs_767928113	7 SubmittersRCV000364887 RCV000369799 RCV001224473 RCV005632367 RCV004782358
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)	SNV Germline	Chr19:38490628	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA067690	rs_199947661	7 SubmittersRCV000307113 RCV000364152 RCV000397620 RCV000512722 RCV000535360
NM_000540.3(RYR1):c.7028-11C>G	SNV Germline	Chr19:38499624	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069019	rs_369342449	2 SubmittersRCV000295398 RCV000389566 RCV000386259 RCV003757170
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)	SNV Germline	Chr19:38511586	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA073259	rs_200797340	7 SubmittersRCV000655514 RCV001660679 RCV003995872 RCV005018684
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)	SNV Germline	Chr19:38565288	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10642763	rs_886054405	2 SubmittersRCV000326773 RCV000340398 RCV000384595 RCV002523065
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)	SNV Germline	Chr19:38585002	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10642775	rs_886054411	4 SubmittersRCV000287271 RCV000342306 RCV000395190 RCV001461603
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)	SNV Germline	Chr19:38504759	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA071456	rs_368063600	4 SubmittersRCV000284075 RCV000259500 RCV000373972 RCV000861066 RCV006441925
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)	SNV Germline	Chr19:38505871	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA072075	rs_761622550	3 SubmittersRCV000266825 RCV000362543 RCV000361260 RCV002057508
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)	SNV Germline	Chr19:38460559	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA063415	rs_200893443	8 SubmittersRCV000347451 RCV000336109 RCV000400231 RCV000721456 RCV001085250
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)	SNV Germline	Chr19:38463521	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA063690	rs_375402078	4 SubmittersRCV000304164 RCV000319110 RCV000358911 RCV000556795 RCV001718687
NM_000540.3(RYR1):c.2937G>A (p.Ala979=)	SNV Germline	Chr19:38466157	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064238	rs_775442275	5 SubmittersRCV000271380 RCV000326462 RCV000366045 RCV000655722
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)	SNV Germline	Chr19:38466343	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651846	rs_569565316	3 SubmittersRCV000304081 RCV000300767 RCV000340438 RCV001444339
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)	SNV Germline	Chr19:38500704	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069615	rs_758872814	2 SubmittersRCV000327926 RCV000379912 RCV000384750 RCV003757171
NM_000540.3(RYR1):c.11193+15C>G	SNV Germline	Chr19:38532556	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA056181	rs_370928637	2 SubmittersRCV000343029 RCV000382513 RCV000391397 RCV002057510
NM_000540.3(RYR1):c.11907+8G>A	SNV Germline	Chr19:38543668	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651890	rs_886054402	2 SubmittersRCV000359696 RCV000360509 RCV000408133 RCV003757172
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)	SNV Germline	Chr19:38584966	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA061510	rs_773080803	6 SubmittersRCV000289632 RCV000385235 RCV000415618 RCV000868705 RCV001718688
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)	SNV Germline	Chr19:38459334	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA063123	rs_369281291	9 SubmittersRCV000293885 RCV000278670 RCV000389411 RCV000823531 RCV000996863 RCV002521218
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)	SNV Germline	Chr19:38464696	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064092	rs_761045773	4 SubmittersRCV000285525 RCV000340381 RCV000379932 RCV002057505
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)	SNV Germline	Chr19:38477722	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA065927	rs_200289457	11 SubmittersRCV000275614 RCV000312053 RCV000371141 RCV000526894 RCV000513329 RCV002523063
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	SNV Germline	Chr19:38473726	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA065572	rs_370966353	11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)	SNV Germline	Chr19:38505868	Conflicting classifications of pathogenicity	Myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA16043556	rs_1057518773	6 SubmittersRCV000415002 RCV001861443 RCV003995931 RCV005018713
NM_000540.3(RYR1):c.3381+5G>A	SNV Germline	Chr19:38467817	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064755	rs_199691436	4 SubmittersRCV000422889 RCV002226708 RCV004000367 RCV005090748
NM_000540.3(RYR1):c.7835+1G>A	SNV Germline	Chr19:38502728	Likely pathogenic	Condition: not provided RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16607795	rs_1057524858	3 SubmittersRCV000442837 RCV001865407 RCV002488988
NM_000540.3(RYR1):c.6549-9C>T	SNV Germline	Chr19:38496206	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA068423	rs_370994573	5 SubmittersRCV000655697 RCV001127015 RCV001127017 RCV001127016 RCV001721301
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)	SNV Germline	Chr19:38504269	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy not specified Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA071182	rs_138325444	7 SubmittersRCV000428395 RCV001239103 RCV002481350 RCV003317210 RCV006550068 RCV006362347
NM_000540.3(RYR1):c.11590+1G>T	SNV Germline	Chr19:38536071	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16608213	rs_113928116	6 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031
NM_000540.3(RYR1):c.4620+13C>T	SNV Germline	Chr19:38478613	Conflicting classifications of pathogenicity	not specified Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA066238	rs_201971363	3 SubmittersRCV000423225 RCV001123856 RCV001123858 RCV001123857 RCV002062729
NM_000540.3(RYR1):c.6549-8G>A	SNV Germline	Chr19:38496207	Conflicting classifications of pathogenicity	not specified Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA068419	rs_756593088	6 SubmittersRCV000454540 RCV001127442 RCV001127018 RCV001127441 RCV001865413
NM_000540.3(RYR1):c.4160+1G>A	SNV Germline	Chr19:38473772	Conflicting classifications of pathogenicity	Hypotonia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA405643333	rs_113460156	5 SubmittersRCV000490681 RCV002489200 RCV003757181 RCV004806371 RCV004722827
NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)	SNV Germline	Chr19:38516103	Conflicting classifications of pathogenicity	not specified Condition: not provided RYR1-related disorder RYR1-related myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA073816	rs_756331568	9 SubmittersRCV000504175 RCV000721749 RCV001221339 RCV001829435 RCV003992308 RCV004003530 RCV004720267
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)	SNV Germline	Chr19:38467683	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA064615	rs_144164620	4 SubmittersRCV000512747 RCV001089334 RCV001125027 RCV001125026 RCV001125025
NM_000540.3(RYR1):c.9472+1G>A	SNV Germline	Chr19:38512484	Pathogenic	Condition: not provided Inborn genetic diseases RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA073621	rs_776697656	9 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004737600 RCV004003622 RCV005860099 RCV006268833
NM_000540.3(RYR1):c.14129+1G>A	SNV Germline	Chr19:38573308	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Uterine corpus endometrial carcinoma Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA060836	rs_142929172	8 SubmittersRCV000519097 RCV001851492 RCV002497013 RCV005901172 RCV006550278 RCV005860097 RCV006605280
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)	SNV Germline	Chr19:38483429	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066462	rs_776194441	6 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433 RCV006550448
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)	SNV Germline	Chr19:38500715	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069622	rs_141298868	7 SubmittersRCV000539694 RCV000721652 RCV005398873 RCV006550455
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	SNV Germline	Chr19:38585967	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405692312	rs_1432807966	7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)	SNV Germline	Chr19:38566950	Conflicting classifications of pathogenicity	RYR1-related disorder Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA059891	rs_149455643	7 SubmittersRCV000551114 RCV000623122 RCV000764199 RCV001797108 RCV004802183
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)	SNV Germline	Chr19:38573248	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA060795	rs_113058779	6 SubmittersRCV000827374 RCV001078943 RCV002497201 RCV003999489
NM_000540.3(RYR1):c.6274+1G>A	SNV Germline	Chr19:38492637	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Multiminicore myopathy Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405662693	rs_1226228092	8 SubmittersRCV000525713 RCV000721603 RCV000853333 RCV005018959 RCV004802184
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)	SNV Germline	Chr19:38485942	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided	Criteria Provided Conflicting Classifications	CA066855	rs_202225176	3 SubmittersRCV000526099 RCV002483516 RCV003133373
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)	SNV Germline	Chr19:38496276	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA308104063	rs_745432757	2 SubmittersRCV000558724 RCV002506378
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)	SNV Germline	Chr19:38565214	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA308109322	rs_1003914966	6 SubmittersRCV000721297 RCV001082883 RCV001131808 RCV001131809 RCV001131810
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)	SNV Germline	Chr19:38584993	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA061519	rs_770698609	4 SubmittersRCV000552120 RCV001134675 RCV001134676 RCV001134677
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	SNV Germline	Chr19:38444167	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066047	rs_151325948	9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380
NM_000540.3(RYR1):c.1440+2T>G	SNV Germline	Chr19:38453016	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA405686944	rs_1555767403	5 SubmittersRCV000598890 RCV001258222 RCV002289892 RCV003591756
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)	SNV Germline	Chr22:42619922	Pathogenic/Likely pathogenic	Hereditary methemoglobinemia Condition: not provided Deficiency of cytochrome-b5 reductase Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA10269583	rs_144071404	10 SubmittersRCV000601950 RCV001811091 RCV002498895 RCV004813125
NM_000540.3(RYR1):c.11034+15G>A	SNV Germline	Chr19:38528710	Conflicting classifications of pathogenicity	not specified Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA055593	rs_552725260	3 SubmittersRCV000611618 RCV001135775 RCV001135774 RCV001135776 RCV002064178
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)	SNV Germline	Chr19:38580396	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA061382	rs_763954439	6 SubmittersRCV000721379 RCV001132277 RCV001132278 RCV001132279 RCV001081890
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	SNV Germline	Chr19:38452838	Conflicting classifications of pathogenicity	Myalgia Exercise-induced myalgia Elevated circulating creatine kinase concentration Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA059313	rs_757157750	8 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758 RCV005870706
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)	SNV Germline	Chr19:38517520	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA074223	rs_752199191	9 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)	SNV Germline	Chr19:38460502	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 not specified Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Autosomal dominant centronuclear myopathy	Criteria Provided Conflicting Classifications	CA063319	rs_142548565	9 SubmittersRCV000655535 RCV000721451 RCV003147531 RCV003235329 RCV005429031
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)	SNV Germline	Chr19:38499954	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA069413	rs_193922808	7 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)	SNV Germline	Chr19:38469107	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA064958	rs_769744438	8 SubmittersRCV000655600 RCV000721499 RCV004004155 RCV004586854 RCV005019092
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	SNV Germline	Chr19:38452824	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia See cases Malignant hyperthermia, susceptibility to, 1 Myopathy, RYR1-associated King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA059053	rs_764262446	11 SubmittersRCV000655525 RCV000658830 RCV001729679 RCV002250674 RCV003334390 RCV004004138 RCV004525996 RCV005019091
NM_000540.3(RYR1):c.6664-2A>G	SNV Germline	Chr19:38496407	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405666150	rs_1346257891	6 SubmittersRCV000655503 RCV000721621 RCV001249649 RCV004004132
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)	SNV Germline	Chr19:38499243	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA069011	rs_536596969	8 SubmittersRCV000655584 RCV000754734 RCV003238799 RCV004004153 RCV004586853 RCV005416385
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)	SNV Germline	Chr19:38517532	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided not specified King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA074235	rs_201276068	7 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131 RCV006552637
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)	SNV Germline	Chr19:38519425	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA052657	rs_774663618	6 SubmittersRCV000655644 RCV001122867 RCV001122868 RCV001122869 RCV003133481
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val)	SNV Germline	Chr19:38565203	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA059496	rs_755065800	4 SubmittersRCV000721295 RCV001083692 RCV005392253
NM_000540.3(RYR1):c.7836-1G>A	SNV Germline	Chr19:38502879	Likely pathogenic	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA082842	rs_1568507354	3 SubmittersRCV000678325 RCV002493120 RCV003591771
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	SNV Germline	Chr19:38442391	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Condition: not provided King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405674053	rs_1456276440	6 SubmittersRCV000680086 RCV001861877 RCV001784304 RCV002507180 RCV004004220
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)	SNV Germline	Chr19:38448649	Pathogenic/Likely pathogenic	RYR1-related disorder Central core myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405682570	rs_1568440962	4 SubmittersRCV000689574 RCV002286779 RCV003133523
NM_000540.3(RYR1):c.13104G>A (p.Val4368=)	SNV Germline	Chr19:38565438	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA507355614	rs_1357186643	2 SubmittersRCV000703165 RCV002499265
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)	SNV Germline	Chr19:38452916	Pathogenic/Likely pathogenic	RYR1-related disorder Centronuclear myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA308120715	rs_911417327	4 SubmittersRCV000692043 RCV004586880 RCV005001101 RCV005392294
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)	SNV Germline	Chr19:38523042	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Condition: not provided RYR1-related myopathy Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA052986	rs_150977342	8 SubmittersRCV000699049 RCV001331318 RCV003130009 RCV004788135 RCV004026463 RCV006552745
NM_000540.3(RYR1):c.14869-5C>G	SNV Germline	Chr19:38586086	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA891844342	rs_1199304403	2 SubmittersRCV000695461 RCV002499246
NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)	SNV Germline	Chr19:38460545	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA063399	rs_146754847	7 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	SNV Germline	Chr19:38477860	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066054	rs_747718728	8 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595
NM_000540.3(RYR1):c.767G>A (p.Arg256His)	SNV Germline	Chr19:38446735	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069967	rs_772767943	7 SubmittersRCV000721663 RCV000797005 RCV002499330 RCV003999860
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)	SNV Germline	Chr19:38451839	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications	CA308119861	rs_777016690	6 SubmittersRCV000721257 RCV000820328 RCV004807114 RCV005027887
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)	SNV Germline	Chr19:38459265	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA063078	rs_369947687	4 SubmittersRCV000721445 RCV002533063 RCV005004387
NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)	SNV Germline	Chr19:38469026	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder not specified Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064845	rs_201174268	9 SubmittersRCV000721497 RCV000817122 RCV001249075 RCV002499327 RCV002535005 RCV003999839
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)	SNV Germline	Chr19:38485969	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA405654623	rs_1568484835	4 SubmittersRCV000721586 RCV001036189 RCV002493289
NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu)	SNV Germline	Chr19:38496250	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA068442	rs_772003357	8 SubmittersRCV000721617 RCV000800253 RCV004802407 RCV005253091
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg)	SNV Germline	Chr19:38499642	Likely pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405667781	rs_1448949048	2 SubmittersRCV001060012 RCV006606839
NM_000540.3(RYR1):c.9001-15C>A	SNV Germline	Chr19:38510645	Conflicting classifications of pathogenicity	Condition: not provided Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073057	rs_372702492	5 SubmittersRCV000721725 RCV002485829 RCV003999866 RCV003768164
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=)	SNV Germline	Chr19:38515066	Conflicting classifications of pathogenicity	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA507246714	rs_1568524980	2 SubmittersRCV000721744 RCV001126328 RCV001126329 RCV001126330
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)	SNV Germline	Chr19:38517565	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Centronuclear myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA074292	rs_544339193	6 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902 RCV006459863
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)	SNV Germline	Chr19:38565514	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA059617	rs_748844266	7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004702371 RCV004026924
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr)	SNV Germline	Chr19:38570671	Pathogenic/Likely pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405678916	rs_1568591803	2 SubmittersRCV000815082 RCV006606838
NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly)	SNV Germline	Chr19:38572176	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy	Criteria Provided Conflicting Classifications	CA405680961	rs_1568593984	2 SubmittersRCV000721340 RCV001825442
NM_000540.3(RYR1):c.14173-2A>G	SNV Germline	Chr19:38577916	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA405684067	rs_1189024951	8 SubmittersRCV000721355 RCV000814221 RCV003999821 RCV005004386 RCV006633942
NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)	SNV Germline	Chr19:38586571	Pathogenic/Likely pathogenic	Condition: not provided Central core myopathy RYR1-related disorder King Denborough syndrome Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405693838	rs_1568614042	4 SubmittersRCV000721411 RCV000785960 RCV001206699 RCV005409728
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys)	SNV Germline	Chr19:38516165	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405690443	rs_978984063	2 SubmittersRCV000786072 RCV006552821
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg)	SNV Germline	Chr19:38580028	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405686998	rs_1568604308	1 SubmittersRCV000786073
NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)	SNV Germline	Chr19:38483419	Pathogenic/Likely pathogenic	Central core myopathy RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405650606	rs_1332371891	4 SubmittersRCV000754733 RCV002536549 RCV005021145 RCV004586913
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)	SNV Germline	Chr19:38448392	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405681155	rs_1278804520	4 SubmittersRCV000760976 RCV003757205 RCV006552827
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)	SNV Germline	Chr19:38502900	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA082875	rs_1263237391	2 SubmittersRCV000770989 RCV003328625
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)	SNV Germline	Chr19:38504839	Pathogenic	Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405676798	rs_1568510406	2 SubmittersRCV000785057
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)	SNV Germline	Chr19:38467722	Likely pathogenic	Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA507234701	rs_1234999215	3 SubmittersRCV000785893 RCV001345997 RCV004001543
NM_000540.3(RYR1):c.1956G>A (p.Ala652=)	SNV Germline	Chr19:38458081	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA062717	rs_202105428	6 SubmittersRCV000805637 RCV001310399 RCV001125553 RCV001125551 RCV001125552
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	SNV Germline	Chr19:38466204	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405634883	rs_1440262870	6 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)	SNV Germline	Chr19:38494522	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA068263	rs_776830747	8 SubmittersRCV000813191 RCV001729710 RCV003132080 RCV004001749 RCV005056593
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)	SNV Germline	Chr19:38584963	Pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405690192	rs_193922887	2 SubmittersRCV000801582 RCV000853348
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)	SNV Germline	Chr19:38459268	Pathogenic/Likely pathogenic	Central core myopathy RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA063087	rs_371455345	2 SubmittersRCV000825544 RCV001383922
NM_000540.3(RYR1):c.46-4G>A	SNV Germline	Chr19:38440741	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA066333	rs_201094741	6 SubmittersRCV000867181 RCV002487901 RCV004002997 RCV005633769
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)	SNV Germline	Chr19:38473667	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA308079786	rs_915321867	4 SubmittersRCV001126226 RCV001126227 RCV001126225 RCV001402423
NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg)	SNV Germline	Chr19:38499730	Likely pathogenic	Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405668243	rs_1568501059	2 SubmittersRCV000990201 RCV005411626
NM_000540.3(RYR1):c.668A>G (p.His223Arg)	SNV Germline	Chr19:38446508	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068570	rs_766836202	6 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	SNV Germline	Chr19:38458169	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Condition: not provided King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA062775	rs_776252106	6 SubmittersRCV001004922 RCV001862742 RCV002305557 RCV002479200 RCV004004475
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	SNV Germline	Chr19:38458108	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA405695616	rs_1305971341	5 SubmittersRCV001058792 RCV001784614 RCV004000105 RCV002505620
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)	SNV Germline	Chr19:38466117	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064173	rs_143179371	6 SubmittersRCV001048927 RCV002489605 RCV003130122 RCV003989632 RCV004004791
NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)	SNV Germline	Chr19:38499671	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA069098	rs_144526634	5 SubmittersRCV001066687 RCV002482105 RCV004000162 RCV005603684
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)	SNV Germline	Chr19:38505340	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA071860	rs_767805554	6 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460
NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)	SNV Germline	Chr19:38512483	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073657	rs_770942162	4 SubmittersRCV001057839 RCV002482022 RCV004000093
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	SNV Germline	Chr19:38580091	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061315	rs_193922875	6 SubmittersRCV001040954 RCV002481884 RCV003130110 RCV004819235 RCV006545807
NM_000540.3(RYR1):c.10824+8G>A	SNV Germline	Chr19:38527792	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA054848	rs_374325589	4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly)	SNV Germline	Chr19:38580064	Pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405687172	rs_1974129338	1 SubmittersRCV001260939
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)	SNV Germline	Chr19:38455529	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Central core myopathy	Criteria Provided Conflicting Classifications	CA062238	rs_772978260	10 SubmittersRCV001092336 RCV001221706 RCV001258047 RCV004017787 RCV005253721
NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)	SNV Germline	Chr19:38519244	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA052265	rs_538500669	6 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV004000222 RCV005409773
NM_000540.3(RYR1):c.663C>T (p.Leu221=)	SNV Germline	Chr19:38446503	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068502	rs_761319979	2 SubmittersRCV001124359 RCV001124358 RCV001124360
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=)	SNV Germline	Chr19:38502635	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA507243807	rs_1477392994	2 SubmittersRCV001123653 RCV001123654 RCV001123655 RCV002070017
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)	SNV Germline	Chr19:38510755	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073142	rs_144067910	4 SubmittersRCV001125256 RCV001126230 RCV001125257 RCV001410297
NM_000540.3(RYR1):c.9726C>T (p.Asp3242=)	SNV Germline	Chr19:38517399	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA084847	rs_1971019633	2 SubmittersRCV001128464 RCV001128465 RCV001128466 RCV005093592
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)	SNV Germline	Chr19:38517405	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA074094	rs_764290955	2 SubmittersRCV001128469 RCV001128467 RCV001128468 RCV002558261
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)	SNV Germline	Chr19:38517558	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA074275	rs_776468955	3 SubmittersRCV001123860 RCV001123859 RCV001126499 RCV002070021 RCV005633899
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=)	SNV Germline	Chr19:38527022	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA507236861	rs_1971495978	2 SubmittersRCV001124051 RCV001124050 RCV001124052
NM_000540.3(RYR1):c.2682+13C>T	SNV Germline	Chr19:38463540	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA063708	rs_745844424	2 SubmittersRCV001122047 RCV001122048 RCV001122049 RCV002558211
NM_000540.3(RYR1):c.6128-13T>G	SNV Germline	Chr19:38492477	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA1139666427	rs_1969594703	2 SubmittersRCV001124245 RCV001124246 RCV001124247
NM_000540.3(RYR1):c.9555-14G>A	SNV Germline	Chr19:38516073	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder not specified	Criteria Provided Conflicting Classifications	CA073800	rs_763353979	4 SubmittersRCV001128377 RCV001126334 RCV001128376 RCV002070065 RCV003490081
NM_000540.3(RYR1):c.9555-4C>T	SNV Germline	Chr19:38516083	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA632876987	rs_1417337927	2 SubmittersRCV001122655 RCV001122654 RCV001122656 RCV001856618
NM_000540.3(RYR1):c.10441-8T>C	SNV Germline	Chr19:38523907	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA053536	rs_755330618	3 SubmittersRCV001126619 RCV001126620 RCV001126621 RCV003757216
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)	SNV Germline	Chr19:38543363	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA057532	rs_776123178	4 SubmittersRCV001131555 RCV001128887 RCV001128886 RCV003757218
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)	SNV Germline	Chr19:38565174	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA507355428	rs_1292456827	3 SubmittersRCV001129124 RCV001129123 RCV001129125 RCV001406467
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)	SNV Germline	Chr19:38499636	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069044	rs_138617219	3 SubmittersRCV001217935 RCV002504268 RCV005402988
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)	SNV Germline	Chr19:38502902	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA082877	rs_1365856881	7 SubmittersRCV001219907 RCV001780144 RCV003156321 RCV005005088 RCV004803576
NM_000540.3(RYR1):c.14752G>A (p.Asp4918Asn)	SNV Germline	Chr19:38585048	Pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405690809	rs_1469916243	2 SubmittersRCV001210308 RCV005419037
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)	SNV Germline	Chr19:38523927	Pathogenic	RYR1-related disorder Central core myopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA308134023	rs_199895006	3 SubmittersRCV001227328 RCV003989647 RCV001780158
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)	SNV Germline	Chr19:38584997	Likely pathogenic	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Single Submitter	CA061530	rs_764602570	1 SubmittersRCV001249650
NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp)	SNV Germline	Chr19:38528405	Likely pathogenic	Central core myopathy	No Assertion Criteria Provided	CA405649642	rs_1971575594	1 SubmittersRCV001257448
NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)	SNV Germline	Chr19:38505380	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA071914	rs_146514343	3 SubmittersRCV001332541 RCV004005141 RCV003989686
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)	SNV Germline	Chr19:38455467	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA308123278	rs_927675372	6 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143 RCV006266710
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	SNV Germline	Chr19:38458238	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA062851	rs_565825739	7 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV003591856 RCV004005144
NM_000540.3(RYR1):c.2682G>T (p.Pro894=)	SNV Germline	Chr19:38463527	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA308074291	rs_919322708	5 SubmittersRCV001370546 RCV002488164 RCV003235565 RCV004808034
NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)	SNV Germline	Chr19:38500989	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Central core myopathy Inborn genetic diseases not specified Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069809	rs_575446156	7 SubmittersRCV001363484 RCV001773721 RCV002291505 RCV004656561 RCV006274208 RCV006548208
NM_000540.3(RYR1):c.10347C>T (p.His3449=)	SNV Germline	Chr19:38523115	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA053217	rs_373702420	4 SubmittersRCV001370548 RCV002504621 RCV004006823
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile)	SNV Germline	Chr19:38469069	Pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405638644	rs_1280346095	1 SubmittersRCV001449965
NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile)	SNV Germline	Chr19:38490176	Pathogenic/Likely pathogenic	Central core myopathy RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA405660482	rs_1377668924	2 SubmittersRCV001530192 RCV001873747
NM_000540.3(RYR1):c.14364+1G>A	SNV Germline	Chr19:38578205	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA405685479	rs_1974046221	5 SubmittersRCV001531894 RCV003757223 RCV004804225 RCV004017845
NM_000540.3(RYR1):c.1630G>T (p.Asp544Tyr)	SNV Germline	Chr19:38455504	Likely pathogenic	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Condition: not provided	Reviewed By Expert Panel	CA308123345	rs_113812662	3 SubmittersRCV001580389 RCV005409829 RCV006272455
NM_000540.3(RYR1):c.8310+1G>T	SNV Germline	Chr19:38505082	Pathogenic	Condition: not provided Central core myopathy RYR1-related disorder RYR1-related myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA405677313	rs_1970380121	5 SubmittersRCV001663366 RCV001775179 RCV003757225 RCV004738355 RCV004008957
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser)	SNV Germline	Chr19:38580449	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405687854	rs_118192146	1 SubmittersRCV001829286
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)	SNV Germline	Chr19:38585945	Pathogenic/Likely pathogenic	Central core myopathy RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA405692175	rs_2145917373	2 SubmittersRCV001829287 RCV002034691
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)	SNV Germline	Chr19:38496923	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA068817	rs_761154999	4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346
NM_000540.3(RYR1):c.14130-2A>G	SNV Germline	Chr19:38575917	Pathogenic	RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA405683232	rs_1457662393	4 SubmittersRCV001941795 RCV002497871 RCV004010985 RCV003325593
NM_000540.3(RYR1):c.947G>A (p.Arg316His)	SNV Germline	Chr19:38448501	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome not specified	Criteria Provided Conflicting Classifications	CA073714	rs_193922761	5 SubmittersRCV001962291 RCV002490033 RCV004009225 RCV005253914 RCV005409051
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)	SNV Germline	Chr19:38446710	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 not specified Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA069619	rs_1801086	5 SubmittersRCV002008037 RCV004011032 RCV004699607 RCV005025566
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)	SNV Germline	Chr19:38580040	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405687045	rs_1274780855	3 SubmittersRCV002035647 RCV002283577 RCV004804342
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)	SNV Germline	Chr19:38543372	Likely pathogenic	Central core myopathy	No Assertion Criteria Provided	CA405661171	rs_1027596623	1 SubmittersRCV002281653
NM_000540.3(RYR1):c.2168-1G>A	SNV Germline	Chr19:38459145	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405627486	rs_2514048182	1 SubmittersRCV002284047
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)	SNV Germline	Chr19:38580454	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA081265	rs_2514752302	1 SubmittersRCV002290319
NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)	SNV Germline	Chr19:38510518	Pathogenic/Likely pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405683370	rs_1381679767	2 SubmittersRCV003064582 RCV003340598
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)	SNV Germline	Chr19:38460463	Pathogenic/Likely pathogenic	RYR1-related disorder Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Multiple Submitters No Conflicts	CA063249	rs_150633775	2 SubmittersRCV003082827 RCV005021563
NM_000540.3(RYR1):c.2633A>G (p.His878Arg)	SNV Germline	Chr19:38463478	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy	Criteria Provided Conflicting Classifications	CA405631967	rs_2514074117	2 SubmittersRCV002635880 RCV003988015
NM_000540.3(RYR1):c.6856C>G (p.Leu2286Val)	SNV Germline	Chr19:38496919	Likely pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405666573	rs_369610397	2 SubmittersRCV002761273 RCV005416646
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)	SNV Germline	Chr22:42631422	Conflicting classifications of pathogenicity	Deficiency of cytochrome-b5 reductase Central core myopathy	Criteria Provided Conflicting Classifications	CA324703519	rs_774242947	3 SubmittersRCV003145963 RCV004813221
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)	SNV Germline	Chr19:38517583	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA074340	rs_746935915	1 SubmittersRCV003335792
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)	SNV Unknown	Chr19:38580055	Likely pathogenic	Central core myopathy	No Assertion Criteria Provided	CA405687138	rs_2514748917	1 SubmittersRCV003484986
NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)	SNV Germline	Chr19:38584974	Likely pathogenic	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405690254	rs_118192151	2 SubmittersRCV003591149 RCV005030121
NM_000540.3(RYR1):c.11608+1G>A	SNV Germline	Chr19:38536768	Likely pathogenic	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Multiple Submitters No Conflicts	CA405657664	rs_1354044963	2 SubmittersRCV003757143 RCV005014940
NM_000540.3(RYR1):c.12095-2A>G	SNV Germline	Chr19:38548231	Likely pathogenic	RYR1-related disorder King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405665017	rs_2514599811	2 SubmittersRCV003849843 RCV005015040
NM_000540.3(RYR1):c.7927-1G>T	SNV Germline	Chr19:38504219	Likely pathogenic	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405675342	rs_2514351010	2 SubmittersRCV003874299 RCV005030352
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)	SNV Germline	Chr19:38585938	Pathogenic	King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Single Submitter	CA405692125	rs_979090493	1 SubmittersRCV003883301
NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)	SNV Germline	Chr19:38499975	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405669469	rs_193922809	1 SubmittersRCV003990362
NM_000540.3(RYR1):c.11193+1G>A	SNV Germline	Chr19:38532542	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA308084134	rs_111986316	2 SubmittersRCV004008065 RCV004018018
NM_000540.3(RYR1):c.1441-2A>G	SNV Germline	Chr19:38455233	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405688274	rs_1163185721	1 SubmittersRCV004018077
NM_000540.3(RYR1):c.2578-2A>G	SNV Germline	Chr19:38463421	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405631644	rs_2514073477	1 SubmittersRCV004018253
NM_000540.3(RYR1):c.7968C>A (p.Cys2656Ter)	SNV Germline	Chr19:38504261	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter	CA405675652	rs_1305053560	1 SubmittersRCV004018254
NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)	SNV Germline	Chr19:38570614	Likely pathogenic	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004795613
NM_000540.3(RYR1):c.12623A>G (p.Gln4208Arg)	SNV Germline	Chr19:38561453	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004813347
NM_000540.3(RYR1):c.14228G>T (p.Gly4743Val)	SNV Germline	Chr19:38577973	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004821176
NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)	SNV Germline	Chr19:38446558	Pathogenic	King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Single Submitter			1 SubmittersRCV005022987
NM_000540.3(RYR1):c.3382-1G>A	SNV Germline	Chr19:38468965	Likely pathogenic	King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Single Submitter			1 SubmittersRCV005022989
NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)	SNV Germline	Chr19:38516157	Likely pathogenic	King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Single Submitter			1 SubmittersRCV005022991
NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)	SNV Germline	Chr19:38528309	Likely pathogenic	King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Single Submitter			1 SubmittersRCV005022992
NM_000540.3(RYR1):c.10450A>G (p.Ile3484Val)	SNV Germline	Chr19:38523924	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications			4 SubmittersRCV005148756 RCV005392977 RCV006378072 RCV006553352
NM_000540.3(RYR1):c.7354C>G (p.Arg2452Gly)	SNV Germline	Chr19:38500636	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			1 SubmittersRCV006454989

NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)

SNV
Germline

Chr19:38457545

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Inborn genetic diseases
Malignant hyperthermia of anesthesia
enflurane response - Toxicity
succinylcholine response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
desflurane response - Toxicity
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024311

rs_118192172

32 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349

NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)

SNV
Germline

Chr19:38499997

Pathogenic; drug response

Central core myopathy
Condition: not provided
RYR1-related disorder
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024750

rs_28933396

11 SubmittersRCV000013832 RCV000119699 RCV000707405 RCV001787396 RCV001787398 RCV001787399 RCV001787400 RCV001787401 RCV001787395 RCV001787397 RCV002281705 RCV004017238 RCV005409599

NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)

SNV
Germline

Chr19:38444211

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Condition: not provided
RYR1-related disorder
enflurane response - Toxicity
isoflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA018598

rs_118192161

13 SubmittersRCV000013833 RCV000013834 RCV000119625 RCV000806352 RCV001787706 RCV001787708 RCV001787710 RCV001787711 RCV001787402 RCV001787707 RCV001787709 RCV004017239

NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)

SNV
Germline

Chr19:38499993

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Malignant hyperthermia of anesthesia
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
Central core myopathy
isoflurane response - Toxicity
sevoflurane response - Toxicity
Inborn genetic diseases
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024747

rs_121918593

34 SubmittersRCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787723 RCV001787725 RCV001787719 RCV001787720 RCV001787721 RCV002288488 RCV001787722 RCV001787724 RCV002513026 RCV005025050

NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)

SNV
Germline

Chr19:38500654

Likely pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Malignant hyperthermia of anesthesia
RYR1-related disorder
sevoflurane response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024784

rs_28933397

13 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361

NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)

SNV
Germline

Chr19:38494564

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Condition: not provided
RYR1-related disorder
desflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
enflurane response - Toxicity
Inborn genetic diseases

Reviewed By Expert Panel

CA024590

rs_118192175

12 SubmittersRCV000013840 RCV000056223 RCV000119653 RCV001385701 RCV001787740 RCV001787742 RCV001787743 RCV001787744 RCV001787745 RCV001787746 RCV001787741 RCV005722088

NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)

SNV
Germline

Chr19:38494565

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Condition: not provided
RYR1-related disorder
desflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity

Reviewed By Expert Panel

CA024593

rs_118192163

9 SubmittersRCV000013841 RCV000013842 RCV000119654 RCV001204982 RCV001787747 RCV001787749 RCV001787751 RCV001787752 RCV001787753 RCV001787748 RCV001787750

NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)

SNV
Germline

Chr19:38494579

Pathogenic; drug response

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Central core myopathy
isoflurane response - Toxicity
sevoflurane response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA024603

rs_118192176

12 SubmittersRCV000013845 RCV000119656 RCV000578323 RCV000557804 RCV001729347 RCV001787764 RCV001787766 RCV001787761 RCV001787762 RCV001787763 RCV001787765 RCV001787767 RCV003398498

NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)

SNV
Germline

Chr19:38496283

Pathogenic

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Absence of the sacrum
Ptosis
History of neonatal hypotonia
Malignant hyperthermia of anesthesia
RYR1-related disorder
King Denborough syndrome
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to
Inborn genetic diseases
King Denborough syndrome
Central core myopathy

Reviewed By Expert Panel

CA024622

rs_118192177

26 SubmittersRCV000013846 RCV000119662 RCV000162149 RCV000606881 RCV000655558 RCV001729348 RCV005016260 RCV004556715 RCV004658961 RCV005624685

NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)

SNV
Germline

Chr19:38580440

Conflicting classifications of pathogenicity; drug response

Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
Malignant hyperthermia of anesthesia
RYR1-related myopathy

Reviewed By Expert Panel

CA024187

rs_63749869

16 SubmittersRCV000013852 RCV000119533 RCV000534187 RCV000851296 RCV001787783 RCV001787785 RCV001787786 RCV001787787 RCV001787788 RCV001787782 RCV001787784 RCV004017241 RCV004991972

NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)

SNV
Germline

Chr19:38443612

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

19 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003447473 RCV003996093 RCV004586005 RCV005003354

NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)

SNV
Germline

Chr19:38499961

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Clubfoot
EMG abnormality
Lower limb amyotrophy
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

12 SubmittersRCV000013861 RCV000119694 RCV000415169 RCV001197410 RCV001851835 RCV002504782 RCV003996094 RCV004017243 RCV004813035

NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala)

SNV
Germline

Chr19:38572181

Pathogenic/Likely pathogenic

Central core myopathy
Condition: not provided
Malignant hyperthermia of anesthesia
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA024078

rs_118192166

6 SubmittersRCV000013864 RCV000119487 RCV001824568 RCV001851836

NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)

SNV
Germline

Chr19:38519399

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy
not specified
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Reviewed By Expert Panel

CA023822

rs_367543058

15 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181 RCV004786294 RCV005252703 RCV005394216

NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)

SNV
Germline

Chr19:38451846

Likely pathogenic

Congenital myopathy with fiber type disproportion
Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA023960

rs_118192117

3 SubmittersRCV000034926 RCV000056214 RCV000119451 RCV005089338

NM_000540.3(RYR1):c.10348-6C>G

SNV
Germline

Chr19:38523211

Pathogenic

Condition: not provided
RYR1-related disorder
Inborn genetic diseases
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Myopathy, RYR1-associated
Centronuclear myopathy
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
RYR1-related myopathy
Congenital multicore myopathy with external ophthalmoplegia

Reviewed By Expert Panel

CA023836

rs_193922837

20 SubmittersRCV000119410 RCV000535801 RCV000624604 RCV001249074 RCV001775081 RCV003997313 RCV004689614 RCV004586556 RCV005003479 RCV005359124 RCV005430496 RCV005867906

NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)

SNV
Unknown

Chr19:38565320

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024025

rs_118192129

2 SubmittersRCV000056171 RCV000119471

NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)

SNV
Germline

Chr19:38580395

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024167

rs_118192143

6 SubmittersRCV000056172 RCV000119525 RCV001390401 RCV003996484

NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)

SNV
Germline

Chr19:38585013

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA024241

rs_118192153

5 SubmittersRCV000056173 RCV000119555 RCV002513729

NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)

SNV
Germline

Chr19:38572172

Pathogenic

Condition: not provided
Central core myopathy

Criteria Provided
Single Submitter

CA024076

rs_118192133

3 SubmittersRCV000119486 RCV000056181

NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)

SNV
Germline

Chr19:38585058

Pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA024251

rs_118192156

4 SubmittersRCV000056186 RCV000119560 RCV001854161

NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)

SNV
Germline

Chr19:38572184

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024082

rs_118192136

4 SubmittersRCV000056190 RCV000119489 RCV000687662 RCV004804032

NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)

SNV
Unknown

Chr19:38584967

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024215

rs_118192149

2 SubmittersRCV000056192 RCV000119544

NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)

SNV
Unknown

Chr19:38584986

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024231

rs_118192148

2 SubmittersRCV000056194 RCV000119551

NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)

SNV
Germline

Chr19:38584992

Pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA024237

rs_118192183

3 SubmittersRCV000056195 RCV000119554 RCV001382210

NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)

SNV
Germline

Chr19:38572224

Pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA024093

rs_118192139

4 SubmittersRCV000056198 RCV000119494 RCV003591653

NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)

SNV
Germline

Chr19:38584955

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA024212

rs_118192147

3 SubmittersRCV000056199 RCV000119542 RCV004528261

NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)

SNV
Germline

Chr19:38500640

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024775

rs_118192123

5 SubmittersRCV000056200 RCV000119708 RCV001383435 RCV001588885

NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)

SNV
Germline

Chr19:38527777

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA023862

rs_118192127

3 SubmittersRCV000056205 RCV000119419 RCV005089462

NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)

SNV
Germline

Chr19:38570650

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024069

rs_118192131

4 SubmittersRCV000056206 RCV000119484 RCV001066791

NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)

SNV
Germline

Chr19:38579995

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024130

rs_118192179

4 SubmittersRCV000056209 RCV000119508 RCV001854162

NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)

SNV
Unknown

Chr19:38580057

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024141

rs_118192142

2 SubmittersRCV000056211 RCV000119514

NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp)

SNV
Unknown

Chr19:38580430

Pathogenic

Condition: not provided
Central core myopathy

No Assertion Criteria Provided

CA024174

rs_118192144

2 SubmittersRCV000119529 RCV000056216

NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)

SNV
Germline

Chr19:38500636

Likely pathogenic; drug response

Central core myopathy
Condition: not provided
RYR1-related disorder
King Denborough syndrome
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024770

rs_118192124

16 SubmittersRCV000056226 RCV000119706 RCV000527240 RCV001729374 RCV001787847 RCV001787849 RCV001787848 RCV001787850 RCV001787851 RCV001787852 RCV001787853 RCV002221195 RCV002281899

NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)

SNV
Germline

Chr19:38500643

Pathogenic; drug response

Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
halothane response - Toxicity
methoxyflurane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
desflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia of anesthesia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Reviewed By Expert Panel

CA024781

rs_118192122

18 SubmittersRCV000056227 RCV000119710 RCV000709760 RCV000699835 RCV001787856 RCV001787858 RCV001787855 RCV001787857 RCV001787854 RCV001787859 RCV001787860 RCV004700357 RCV005016355

NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)

SNV
Germline

Chr19:38500898

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Abnormality of the musculature
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024819

rs_118192178

13 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900

NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)

SNV
Germline

Chr19:38506952

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024952

rs_118192125

5 SubmittersRCV000056229 RCV000119763 RCV001383436 RCV003996487

NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)

SNV
Germline

Chr19:38580090

Pathogenic/Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Lynch syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA024150

rs_118192180

6 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852

NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)

SNV
Unknown

Chr19:38584974

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024223

rs_118192151

2 SubmittersRCV000056234 RCV000119547

NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)

SNV
Germline

Chr19:38584973

Pathogenic/Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA024220

rs_118192150

9 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489

NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)

SNV
Germline

Chr19:38585036

Pathogenic

Central core myopathy
Condition: not provided

Criteria Provided
Single Submitter

CA024242

rs_118192184

3 SubmittersRCV000056237 RCV000119556

NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)

SNV
Germline

Chr19:38585037

Pathogenic

Central core myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA024244

rs_118192154

4 SubmittersRCV000056238 RCV000119557

NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)

SNV
Germline

Chr19:38572182

Pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA024080

rs_118192134

4 SubmittersRCV000056242 RCV000119488 RCV000536286

NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)

SNV
Germline

Chr19:38585055

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA024246

rs_118192155

3 SubmittersRCV000056244 RCV000119558 RCV005089463

NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)

SNV
Unknown

Chr19:38572163

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024074

rs_118192132

2 SubmittersRCV000056249 RCV000119485

NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)

SNV
Germline

Chr19:38580449

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024196

rs_118192146

3 SubmittersRCV000056251 RCV000119535

NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)

SNV
Germline

Chr19:38565213

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia of anesthesia

Criteria Provided
Conflicting Classifications

CA024015

rs_193922854

14 SubmittersRCV000079126 RCV000252273 RCV000354942 RCV000355907 RCV000415696 RCV001083097 RCV002051651

NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met)

SNV
Germline

Chr19:38586161

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
not specified
Centronuclear myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related myopathy

Criteria Provided
Conflicting Classifications

CA024280

rs_398123471

7 SubmittersRCV000079134 RCV000801203 RCV004700390 RCV004795343 RCV005025133 RCV005250014

NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024569

rs_398123473

6 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199

NM_000540.3(RYR1):c.7737G>A (p.Val2579=)

SNV
Germline

Chr19:38502629

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024844

rs_114975624

8 SubmittersRCV000079168 RCV000147443 RCV000276971 RCV000307589 RCV000329613 RCV001079993

NM_000243.3(MEFV):c.1261-28A>G

SNV
Germline

Chr16:3249032

Conflicting classifications of pathogenicity

Familial Mediterranean fever
Central core myopathy
Condition: not provided
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis

Criteria Provided
Conflicting Classifications

CA280388

rs_104895140

6 SubmittersRCV000083690 RCV001258254 RCV001711585 RCV003126423 RCV003126424

NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)

SNV
Germline

Chr19:38534775

Likely pathogenic

Condition: not provided
Progressive distal muscle weakness
Pelvic girdle muscle weakness
Delayed gross motor development
Proximal muscle weakness
Scoliosis
Malignant hyperthermia of anesthesia
Neuromuscular disease
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA023909

rs_193922839

16 SubmittersRCV000119432 RCV000415300 RCV000610269 RCV001244597 RCV002281938 RCV003258668 RCV005620342

NM_000540.3(RYR1):c.11708G>A (p.Arg3903Gln)

SNV
Germline

Chr19:38543365

Likely pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Reviewed By Expert Panel

CA023926

rs_148399313

8 SubmittersRCV000119437 RCV001389265 RCV001580388 RCV004017404 RCV004796024

NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)

SNV
Germline

Chr19:38440829

Likely pathogenic; drug response

Condition: not provided
RYR1-related disorder
sevoflurane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
Central core myopathy
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy

Reviewed By Expert Panel

CA024034

rs_193922748

13 SubmittersRCV000119473 RCV001238887 RCV001787949 RCV001588936 RCV001787944 RCV001787945 RCV001787946 RCV001787947 RCV001787948 RCV001787950 RCV003338417 RCV004689616 RCV005025189

NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp)

SNV
Germline

Chr19:38577954

Likely pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia of anesthesia
Central core myopathy

Reviewed By Expert Panel

CA024116

rs_193922867

8 SubmittersRCV000119502 RCV001070022 RCV001449998 RCV004820832

NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)

SNV
Germline

Chr19:38577955

Pathogenic

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024118

rs_193922868

12 SubmittersRCV000119503 RCV001380753 RCV002498548 RCV003231155

NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)

SNV
Germline

Chr19:38580503

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024204

rs_193922884

7 SubmittersRCV000119538 RCV000695746 RCV002288602 RCV006547612

NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)

SNV
Germline

Chr19:38586140

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Inborn genetic diseases

Reviewed By Expert Panel

CA024276

rs_146876145

24 SubmittersRCV000119571 RCV000148804 RCV000605381 RCV000554319 RCV001249254 RCV001729396 RCV005003480 RCV004658969

NM_000540.3(RYR1):c.1589G>A (p.Arg530His)

SNV
Germline

Chr19:38455463

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia of anesthesia
Inborn genetic diseases
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024291

rs_111888148

22 SubmittersRCV000119576 RCV000148805 RCV000655554 RCV001249073 RCV001449797 RCV004658970 RCV005016407

NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)

SNV
Germline

Chr19:38455471

Pathogenic; drug response

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
enflurane response - Toxicity
isoflurane response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy

Reviewed By Expert Panel

CA024293

rs_193922768

10 SubmittersRCV000119577 RCV000802081 RCV001588943 RCV003227650 RCV003227652 RCV003227649 RCV003227651 RCV003227653 RCV003227654 RCV003227655 RCV004700425 RCV005016408

NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)

SNV
Germline

Chr19:38455528

Likely pathogenic; drug response

Condition: not provided
RYR1-related disorder
desflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Reviewed By Expert Panel

CA024299

rs_193922770

7 SubmittersRCV000119581 RCV000536735 RCV001787965 RCV001787967 RCV001787969 RCV001787966 RCV001787968 RCV001787970 RCV001787971 RCV002281942 RCV003325460

NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)

SNV
Germline

Chr19:38457546

Pathogenic; drug response

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion

Reviewed By Expert Panel

CA024313

rs_193922772

9 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002222024 RCV002222025 RCV002222026 RCV002477305

NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)

SNV
Germline

Chr19:38485838

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia of anesthesia
Inborn genetic diseases
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Acute rhabdomyolysis

Reviewed By Expert Panel

CA024494

rs_193922781

17 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055 RCV005865238

NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)

SNV
Germline

Chr19:38490249

Likely pathogenic

Condition: not provided
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

CA024548

rs_193922787

2 SubmittersRCV000119645 RCV003224799

NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)

SNV
Germline

Chr19:38496265

Likely pathogenic

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA024615

rs_193922791

10 SubmittersRCV000119659 RCV000688108 RCV001580442 RCV001823114 RCV005417967

NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)

SNV
Germline

Chr19:38496901

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
not specified
RYR1-related disorder
Malignant hyperthermia of anesthesia
Inborn genetic diseases
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024651

rs_193922797

20 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV003323407 RCV005268555 RCV005003481

NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)

SNV
Germline

Chr19:38499223

Pathogenic; drug response

Condition: not provided
RYR1-related disorder
halothane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
isoflurane response - Toxicity
sevoflurane response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Reviewed By Expert Panel

CA024662

rs_112563513

11 SubmittersRCV000119673 RCV000554523 RCV001787974 RCV001787976 RCV001787978 RCV001787975 RCV001787977 RCV001787972 RCV001787973 RCV001824615 RCV002281943 RCV004698826 RCV005409618

NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)

SNV
Germline

Chr19:38499670

Pathogenic; drug response

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
enflurane response - Toxicity
succinylcholine response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
desflurane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia
Central core myopathy

Reviewed By Expert Panel

CA024693

rs_193922803

14 SubmittersRCV000119682 RCV000578408 RCV000803469 RCV000763425 RCV001787994 RCV001787999 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787993 RCV002281944 RCV004017408 RCV004813060

NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Inborn genetic diseases
Malignant hyperthermia, susceptibility to

Reviewed By Expert Panel

CA024738

rs_193922809

16 SubmittersRCV000119695 RCV001127650 RCV001236218 RCV001788008 RCV001788010 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV002492410 RCV004019662 RCV004556734

NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)

SNV
Germline

Chr19:38499984

Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Autosomal dominant and autosomal recessive RYR1-related disorders

Reviewed By Expert Panel

CA024741

rs_193922810

11 SubmittersRCV000119696 RCV000148824 RCV001854585 RCV004525874 RCV005025190 RCV006554458

NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)

SNV
Germline

Chr19:38469078

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024401

rs_559581937

8 SubmittersRCV000147421 RCV001237337 RCV003338423 RCV005016466 RCV005411352 RCV006547638

NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)

SNV
Germline

Chr19:38475382

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024435

rs_587784376

6 SubmittersRCV000147427 RCV001057643 RCV003998164 RCV005016467 RCV005431490

NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)

SNV
Germline

Chr19:38496466

Conflicting classifications of pathogenicity

Condition: not provided
Multi-minicore disease and atypical periodic paralysis
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Neuromuscular disease
RYR1-related disorder
Hydrops fetalis
Central core myopathy
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

27 SubmittersRCV000147436 RCV000148787 RCV000178453 RCV000171129 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131 RCV005394501

NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)

SNV
Germline

Chr19:38516111

Conflicting classifications of pathogenicity

Condition: not provided
Fetal akinesia deformation sequence 1
Arthrogryposis multiplex congenita
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024994

rs_587784379

7 SubmittersRCV000147451 RCV000855485 RCV001036190 RCV001004921 RCV003998165

NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)

SNV
Germline

Chr19:38459253

Conflicting classifications of pathogenicity

Myopathy, RYR1-associated
not specified
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Inborn genetic diseases
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002492546 RCV002514856 RCV005252771

NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)

SNV
Germline

Chr19:38543420

Conflicting classifications of pathogenicity

Congenital myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases
Congenital myopathy with fiber type disproportion
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA023934

rs_377178986

14 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416 RCV004786401

NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)

SNV
Germline

Chr19:38502967

Conflicting classifications of pathogenicity

not specified
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024874

rs_142558977

8 SubmittersRCV000245786 RCV000282044 RCV000335516 RCV000337138 RCV000721683 RCV001085362

NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)

SNV
Germline

Chr19:38505910

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024923

rs_144777676

10 SubmittersRCV000179139 RCV000526318 RCV000765450 RCV000680153 RCV001122357 RCV001122358

NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)

SNV
Germline

Chr19:38543564

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

6 SubmittersRCV000180427 RCV001852247 RCV002500520 RCV003996587 RCV004586602

NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)

SNV
Germline

Chr19:38561329

Pathogenic/Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA023986

rs_772494345

4 SubmittersRCV000721273 RCV002492793 RCV003591696

NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)

SNV
Germline

Chr19:38565378

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

5 SubmittersRCV000180735 RCV000543194 RCV002503701

NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)

SNV
Germline

Chr19:38467732

Conflicting classifications of pathogenicity

Condition: not provided
Central core myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA024393

rs_145088074

5 SubmittersRCV000182605 RCV000785928 RCV001852321 RCV003996724 RCV005437976

NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)

SNV
Germline

Chr19:38546515

Conflicting classifications of pathogenicity

Inborn genetic diseases
RYR1-related disorder
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA023962

rs_794728696

14 SubmittersRCV000210653 RCV000542897 RCV000721259 RCV002288788 RCV003147380 RCV003114333 RCV004795344

NM_000540.3(RYR1):c.14304-6C>A

SNV
Germline

Chr19:38578138

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024125

rs_794728693

4 SubmittersRCV000182600 RCV000702407 RCV002485210 RCV006547753

NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)

SNV
Germline

Chr19:38586150

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia of anesthesia
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024278

rs_368874586

9 SubmittersRCV000210545 RCV000721408 RCV000793270 RCV001449967 RCV002051687 RCV004556761 RCV004804789

NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)

SNV
Germline

Chr19:38580504

Conflicting classifications of pathogenicity

not specified
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907

NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)

SNV
Germline

Chr19:38502946

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
not specified
RYR1-related disorder
Condition: not provided
Arrhythmogenic right ventricular cardiomyopathy

Criteria Provided
Conflicting Classifications

CA071016

rs_148041292

12 SubmittersRCV000209968 RCV000765449 RCV000678749 RCV000800203 RCV001356636 RCV005625449

NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)

SNV
Germline

Chr19:38536758

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Exercise-induced myalgia
Myalgia
Elevated circulating creatine kinase concentration
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA057247

rs_138593495

6 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195

NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)

SNV
Germline

Chr19:38453012

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10575982

rs_878854375

3 SubmittersRCV000231682 RCV000721364 RCV005431554

NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)

SNV
Germline

Chr19:38458154

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16616833

rs_878854365

6 SubmittersRCV000550931 RCV001782728 RCV005003587 RCV006547898

NM_000540.3(RYR1):c.10347+1G>A

SNV
Germline

Chr19:38523116

Pathogenic

Inborn genetic diseases
Condition: not provided
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related myopathy

Reviewed By Expert Panel

CA053108

rs_111436401

11 SubmittersRCV000210710 RCV000521927 RCV000763426 RCV000695241 RCV000995628 RCV002259320 RCV005025343 RCV005859342

NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)

SNV
Germline

Chr19:38534781

Conflicting classifications of pathogenicity

Malignant hypothermia
Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA056720

rs_146361173

9 SubmittersRCV000239317 RCV000520252 RCV000706929 RCV002487106 RCV006547911

NM_000540.3(RYR1):c.4269C>G (p.Pro1423=)

SNV
Germline

Chr19:38475426

Conflicting classifications of pathogenicity

not specified
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA065808

rs_2229141

5 SubmittersRCV000245577 RCV001128373 RCV001128374 RCV001128375 RCV002057380

NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)

SNV
Germline

Chr19:38478468

Conflicting classifications of pathogenicity

not specified
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10587311

rs_886038331

5 SubmittersRCV000252142 RCV001122763 RCV001128461 RCV001122764 RCV002057382

NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)

SNV
Germline

Chr19:38483056

Conflicting classifications of pathogenicity

not specified
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA066336

rs_200600174

6 SubmittersRCV000243315 RCV000292256 RCV000351827 RCV000395496 RCV001487929

NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)

SNV
Germline

Chr19:38499242

Conflicting classifications of pathogenicity

not specified
RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA068977

rs_202061237

7 SubmittersRCV000249710 RCV000691898 RCV000721630 RCV001127567 RCV001127566 RCV001125453

NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)

SNV
Germline

Chr19:38502920

Conflicting classifications of pathogenicity

not specified
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA070955

rs_145446438

6 SubmittersRCV000249188 RCV000721679 RCV001083040 RCV001125806 RCV001125805 RCV001125807

NM_000540.3(RYR1):c.11260-13C>T

SNV
Germline

Chr19:38534707

Conflicting classifications of pathogenicity

not specified
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA056599

rs_540088883

5 SubmittersRCV000243303 RCV001131438 RCV001131437 RCV001131439 RCV002057370

NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)

SNV
Germline

Chr19:38586570

Conflicting classifications of pathogenicity

not specified
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061956

rs_2229149

7 SubmittersRCV000241903 RCV000277489 RCV000332546 RCV000308165 RCV001080361 RCV004721322

NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)

SNV
Germline

Chr19:38580033

Pathogenic/Likely pathogenic

Condition: not provided
not specified
RYR1-related disorder
Abnormality of the musculature
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10588687

rs_886039586

9 SubmittersRCV000255902 RCV000784911 RCV001047738 RCV001814134 RCV003761884 RCV005625491

NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)

SNV
Germline

Chr19:38527014

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Condition: not provided
RYR1-related disorder
Inborn genetic diseases
not specified
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA054285

rs_536304635

13 SubmittersRCV000280179 RCV000338681 RCV000398390 RCV000656969 RCV000818112 RCV001266921 RCV001731554 RCV005016666

NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)

SNV
Germline

Chr19:38570637

Conflicting classifications of pathogenicity

RYR1-related disorder
Inborn genetic diseases
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Conflicting Classifications

CA060399

rs_753208767

9 SubmittersRCV000533233 RCV000623983 RCV000721328 RCV003995761 RCV003338497

NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg)

SNV
Germline

Chr19:38578184

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA061124

rs_746538672

10 SubmittersRCV000725566 RCV001042937 RCV002519169 RCV003995775 RCV005355592

NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)

SNV
Germline

Chr19:38485635

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
not specified

Criteria Provided
Conflicting Classifications

CA066575

rs_374115286

8 SubmittersRCV000721571 RCV001081976 RCV001123942 RCV001123941 RCV001123943 RCV005055836

NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)

SNV
Germline

Chr19:38478461

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA066143

rs_767928113

7 SubmittersRCV000364887 RCV000369799 RCV001224473 RCV005632367 RCV004782358

NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)

SNV
Germline

Chr19:38490628

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA067690

rs_199947661

7 SubmittersRCV000307113 RCV000364152 RCV000397620 RCV000512722 RCV000535360

NM_000540.3(RYR1):c.7028-11C>G

SNV
Germline

Chr19:38499624

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA069019

rs_369342449

2 SubmittersRCV000295398 RCV000389566 RCV000386259 RCV003757170

NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)

SNV
Germline

Chr19:38511586

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA073259

rs_200797340

7 SubmittersRCV000655514 RCV001660679 RCV003995872 RCV005018684

NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)

SNV
Germline

Chr19:38565288

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10642763

rs_886054405

2 SubmittersRCV000326773 RCV000340398 RCV000384595 RCV002523065

NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)

SNV
Germline

Chr19:38585002

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10642775

rs_886054411

4 SubmittersRCV000287271 RCV000342306 RCV000395190 RCV001461603

NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)

SNV
Germline

Chr19:38504759

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA071456

rs_368063600

4 SubmittersRCV000284075 RCV000259500 RCV000373972 RCV000861066 RCV006441925

NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)

SNV
Germline

Chr19:38505871

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA072075

rs_761622550

3 SubmittersRCV000266825 RCV000362543 RCV000361260 RCV002057508

NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)

SNV
Germline

Chr19:38460559

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA063415

rs_200893443

8 SubmittersRCV000347451 RCV000336109 RCV000400231 RCV000721456 RCV001085250

NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)

SNV
Germline

Chr19:38463521

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA063690

rs_375402078

4 SubmittersRCV000304164 RCV000319110 RCV000358911 RCV000556795 RCV001718687

NM_000540.3(RYR1):c.2937G>A (p.Ala979=)

SNV
Germline

Chr19:38466157

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064238

rs_775442275

5 SubmittersRCV000271380 RCV000326462 RCV000366045 RCV000655722

NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)

SNV
Germline

Chr19:38466343

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651846

rs_569565316

3 SubmittersRCV000304081 RCV000300767 RCV000340438 RCV001444339

NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)

SNV
Germline

Chr19:38500704

Conflicting classifications of pathogenicity

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA069615

rs_758872814

2 SubmittersRCV000327926 RCV000379912 RCV000384750 RCV003757171

NM_000540.3(RYR1):c.11193+15C>G

SNV
Germline

Chr19:38532556

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA056181

rs_370928637

2 SubmittersRCV000343029 RCV000382513 RCV000391397 RCV002057510

NM_000540.3(RYR1):c.11907+8G>A

SNV
Germline

Chr19:38543668

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651890

rs_886054402

2 SubmittersRCV000359696 RCV000360509 RCV000408133 RCV003757172

NM_000540.3(RYR1):c.14670G>C (p.Val4890=)

SNV
Germline

Chr19:38584966

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061510

rs_773080803

6 SubmittersRCV000289632 RCV000385235 RCV000415618 RCV000868705 RCV001718688

NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)

SNV
Germline

Chr19:38459334

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA063123

rs_369281291

9 SubmittersRCV000293885 RCV000278670 RCV000389411 RCV000823531 RCV000996863 RCV002521218

NM_000540.3(RYR1):c.2844C>T (p.Asn948=)

SNV
Germline

Chr19:38464696

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064092

rs_761045773

4 SubmittersRCV000285525 RCV000340381 RCV000379932 RCV002057505

NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)

SNV
Germline

Chr19:38477722

Conflicting classifications of pathogenicity

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065927

rs_200289457

11 SubmittersRCV000275614 RCV000312053 RCV000371141 RCV000526894 RCV000513329 RCV002523063

NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)

SNV
Germline

Chr19:38473726

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome
Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
not specified

Criteria Provided
Conflicting Classifications

CA065572

rs_370966353

11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948

NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)

SNV
Germline

Chr19:38505868

Conflicting classifications of pathogenicity

Myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA16043556

rs_1057518773

6 SubmittersRCV000415002 RCV001861443 RCV003995931 RCV005018713

NM_000540.3(RYR1):c.3381+5G>A

SNV
Germline

Chr19:38467817

Conflicting classifications of pathogenicity

Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064755

rs_199691436

4 SubmittersRCV000422889 RCV002226708 RCV004000367 RCV005090748

NM_000540.3(RYR1):c.7835+1G>A

SNV
Germline

Chr19:38502728

Likely pathogenic

Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16607795

rs_1057524858

3 SubmittersRCV000442837 RCV001865407 RCV002488988

NM_000540.3(RYR1):c.6549-9C>T

SNV
Germline

Chr19:38496206

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA068423

rs_370994573

5 SubmittersRCV000655697 RCV001127015 RCV001127017 RCV001127016 RCV001721301

NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met)

SNV
Germline

Chr19:38504269

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
not specified
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA071182

rs_138325444

7 SubmittersRCV000428395 RCV001239103 RCV002481350 RCV003317210 RCV006550068 RCV006362347

NM_000540.3(RYR1):c.11590+1G>T

SNV
Germline

Chr19:38536071

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16608213

rs_113928116

6 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031

NM_000540.3(RYR1):c.4620+13C>T

SNV
Germline

Chr19:38478613

Conflicting classifications of pathogenicity

not specified
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA066238

rs_201971363

3 SubmittersRCV000423225 RCV001123856 RCV001123858 RCV001123857 RCV002062729

NM_000540.3(RYR1):c.6549-8G>A

SNV
Germline

Chr19:38496207

Conflicting classifications of pathogenicity

not specified
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA068419

rs_756593088

6 SubmittersRCV000454540 RCV001127442 RCV001127018 RCV001127441 RCV001865413

NM_000540.3(RYR1):c.4160+1G>A

SNV
Germline

Chr19:38473772

Conflicting classifications of pathogenicity

Hypotonia
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA405643333

rs_113460156

5 SubmittersRCV000490681 RCV002489200 RCV003757181 RCV004806371 RCV004722827

NM_000540.3(RYR1):c.9571G>A (p.Gly3191Arg)

SNV
Germline

Chr19:38516103

Conflicting classifications of pathogenicity

not specified
Condition: not provided
RYR1-related disorder
RYR1-related myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA073816

rs_756331568

9 SubmittersRCV000504175 RCV000721749 RCV001221339 RCV001829435 RCV003992308 RCV004003530 RCV004720267

NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)

SNV
Germline

Chr19:38467683

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA064615

rs_144164620

4 SubmittersRCV000512747 RCV001089334 RCV001125027 RCV001125026 RCV001125025

NM_000540.3(RYR1):c.9472+1G>A

SNV
Germline

Chr19:38512484

Pathogenic

Condition: not provided
Inborn genetic diseases
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Reviewed By Expert Panel

CA073621

rs_776697656

9 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004737600 RCV004003622 RCV005860099 RCV006268833

NM_000540.3(RYR1):c.14129+1G>A

SNV
Germline

Chr19:38573308

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Uterine corpus endometrial carcinoma
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA060836

rs_142929172

8 SubmittersRCV000519097 RCV001851492 RCV002497013 RCV005901172 RCV006550278 RCV005860097 RCV006605280

NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)

SNV
Germline

Chr19:38483429

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

6 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433 RCV006550448

NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)

SNV
Germline

Chr19:38500715

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069622

rs_141298868

7 SubmittersRCV000539694 RCV000721652 RCV005398873 RCV006550455

NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)

SNV
Germline

Chr19:38585967

Pathogenic/Likely pathogenic

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA405692312

rs_1432807966

7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490

NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)

SNV
Germline

Chr19:38566950

Conflicting classifications of pathogenicity

RYR1-related disorder
Inborn genetic diseases
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059891

rs_149455643

7 SubmittersRCV000551114 RCV000623122 RCV000764199 RCV001797108 RCV004802183

NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

6 SubmittersRCV000827374 RCV001078943 RCV002497201 RCV003999489

NM_000540.3(RYR1):c.6274+1G>A

SNV
Germline

Chr19:38492637

Pathogenic/Likely pathogenic

RYR1-related disorder
Condition: not provided
Multiminicore myopathy
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA405662693

rs_1226228092

8 SubmittersRCV000525713 RCV000721603 RCV000853333 RCV005018959 RCV004802184

NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Condition: not provided

Criteria Provided
Conflicting Classifications

CA066855

rs_202225176

3 SubmittersRCV000526099 RCV002483516 RCV003133373

NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr)

SNV
Germline

Chr19:38496276

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA308104063

rs_745432757

2 SubmittersRCV000558724 RCV002506378

NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala)

SNV
Germline

Chr19:38565214

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA308109322

rs_1003914966

6 SubmittersRCV000721297 RCV001082883 RCV001131808 RCV001131809 RCV001131810

NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)

SNV
Germline

Chr19:38584993

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA061519

rs_770698609

4 SubmittersRCV000552120 RCV001134675 RCV001134676 RCV001134677

NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)

SNV
Germline

Chr19:38444167

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066047

rs_151325948

9 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV002497264 RCV003514380

NM_000540.3(RYR1):c.1440+2T>G

SNV
Germline

Chr19:38453016

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA405686944

rs_1555767403

5 SubmittersRCV000598890 RCV001258222 RCV002289892 RCV003591756

NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)

SNV
Germline

Chr22:42619922

Pathogenic/Likely pathogenic

Hereditary methemoglobinemia
Condition: not provided
Deficiency of cytochrome-b5 reductase
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10269583

rs_144071404

10 SubmittersRCV000601950 RCV001811091 RCV002498895 RCV004813125

NM_000540.3(RYR1):c.11034+15G>A

SNV
Germline

Chr19:38528710

Conflicting classifications of pathogenicity

not specified
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA055593

rs_552725260

3 SubmittersRCV000611618 RCV001135775 RCV001135774 RCV001135776 RCV002064178

NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)

SNV
Germline

Chr19:38580396

Conflicting classifications of pathogenicity

Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA061382

rs_763954439

6 SubmittersRCV000721379 RCV001132277 RCV001132278 RCV001132279 RCV001081890

NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)

SNV
Germline

Chr19:38452838

Conflicting classifications of pathogenicity

Myalgia
Exercise-induced myalgia
Elevated circulating creatine kinase concentration
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA059313

rs_757157750

8 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758 RCV005870706

NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter)

SNV
Germline

Chr19:38517520

Pathogenic/Likely pathogenic

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

9 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)

SNV
Germline

Chr19:38460502

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
not specified
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Autosomal dominant centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA063319

rs_142548565

9 SubmittersRCV000655535 RCV000721451 RCV003147531 RCV003235329 RCV005429031

NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

7 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140

NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys)

SNV
Germline

Chr19:38469107

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA064958

rs_769744438

8 SubmittersRCV000655600 RCV000721499 RCV004004155 RCV004586854 RCV005019092

NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)

SNV
Germline

Chr19:38452824

Pathogenic/Likely pathogenic

RYR1-related disorder
Condition: not provided
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
See cases
Malignant hyperthermia, susceptibility to, 1
Myopathy, RYR1-associated
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA059053

rs_764262446

11 SubmittersRCV000655525 RCV000658830 RCV001729679 RCV002250674 RCV003334390 RCV004004138 RCV004525996 RCV005019091

NM_000540.3(RYR1):c.6664-2A>G

SNV
Germline

Chr19:38496407

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405666150

rs_1346257891

6 SubmittersRCV000655503 RCV000721621 RCV001249649 RCV004004132

NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser)

SNV
Germline

Chr19:38499243

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA069011

rs_536596969

8 SubmittersRCV000655584 RCV000754734 RCV003238799 RCV004004153 RCV004586853 RCV005416385

NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys)

SNV
Germline

Chr19:38517532

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
not specified
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

7 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131 RCV006552637

NM_000540.3(RYR1):c.10230G>A (p.Pro3410=)

SNV
Germline

Chr19:38519425

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA052657

rs_774663618

6 SubmittersRCV000655644 RCV001122867 RCV001122868 RCV001122869 RCV003133481

NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val)

SNV
Germline

Chr19:38565203

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059496

rs_755065800

4 SubmittersRCV000721295 RCV001083692 RCV005392253

NM_000540.3(RYR1):c.7836-1G>A

SNV
Germline

Chr19:38502879

Likely pathogenic

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA082842

rs_1568507354

3 SubmittersRCV000678325 RCV002493120 RCV003591771

NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)

SNV
Germline

Chr19:38442391

Conflicting classifications of pathogenicity

Central core myopathy
RYR1-related disorder
Condition: not provided
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405674053

rs_1456276440

6 SubmittersRCV000680086 RCV001861877 RCV001784304 RCV002507180 RCV004004220

NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)

SNV
Germline

Chr19:38448649

Pathogenic/Likely pathogenic

RYR1-related disorder
Central core myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405682570

rs_1568440962

4 SubmittersRCV000689574 RCV002286779 RCV003133523

NM_000540.3(RYR1):c.13104G>A (p.Val4368=)

SNV
Germline

Chr19:38565438

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA507355614

rs_1357186643

2 SubmittersRCV000703165 RCV002499265

NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)

SNV
Germline

Chr19:38452916

Pathogenic/Likely pathogenic

RYR1-related disorder
Centronuclear myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA308120715

rs_911417327

4 SubmittersRCV000692043 RCV004586880 RCV005001101 RCV005392294

NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)

SNV
Germline

Chr19:38523042

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Condition: not provided
RYR1-related myopathy
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA052986

rs_150977342

8 SubmittersRCV000699049 RCV001331318 RCV003130009 RCV004788135 RCV004026463 RCV006552745

NM_000540.3(RYR1):c.14869-5C>G

SNV
Germline

Chr19:38586086

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA891844342

rs_1199304403

2 SubmittersRCV000695461 RCV002499246

NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)

SNV
Germline

Chr19:38460545

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA063399

rs_146754847

7 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596

NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066054

rs_747718728

8 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595

NM_000540.3(RYR1):c.767G>A (p.Arg256His)

SNV
Germline

Chr19:38446735

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069967

rs_772767943

7 SubmittersRCV000721663 RCV000797005 RCV002499330 RCV003999860

NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr)

SNV
Germline

Chr19:38451839

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Conflicting Classifications

CA308119861

rs_777016690

6 SubmittersRCV000721257 RCV000820328 RCV004807114 RCV005027887

NM_000540.3(RYR1):c.2287G>A (p.Val763Met)

SNV
Germline

Chr19:38459265

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA063078

rs_369947687

4 SubmittersRCV000721445 RCV002533063 RCV005004387

NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)

SNV
Germline

Chr19:38469026

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
not specified
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA064845

rs_201174268

9 SubmittersRCV000721497 RCV000817122 RCV001249075 RCV002499327 RCV002535005 RCV003999839

NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA405654623

rs_1568484835

4 SubmittersRCV000721586 RCV001036189 RCV002493289

NM_000540.3(RYR1):c.6584C>T (p.Pro2195Leu)

SNV
Germline

Chr19:38496250

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Conflicting Classifications

CA068442

rs_772003357

8 SubmittersRCV000721617 RCV000800253 RCV004802407 RCV005253091

NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg)

SNV
Germline

Chr19:38499642

Likely pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405667781

rs_1448949048

2 SubmittersRCV001060012 RCV006606839

NM_000540.3(RYR1):c.9001-15C>A

SNV
Germline

Chr19:38510645

Conflicting classifications of pathogenicity

Condition: not provided
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA073057

rs_372702492

5 SubmittersRCV000721725 RCV002485829 RCV003999866 RCV003768164

NM_000540.3(RYR1):c.9513T>C (p.Ser3171=)

SNV
Germline

Chr19:38515066

Conflicting classifications of pathogenicity

Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA507246714

rs_1568524980

2 SubmittersRCV000721744 RCV001126328 RCV001126329 RCV001126330

NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)

SNV
Germline

Chr19:38517565

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Centronuclear myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA074292

rs_544339193

6 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902 RCV006459863

NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA059617

rs_748844266

7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004702371 RCV004026924

NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr)

SNV
Germline

Chr19:38570671

Pathogenic/Likely pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405678916

rs_1568591803

2 SubmittersRCV000815082 RCV006606838

NM_000540.3(RYR1):c.13904A>G (p.Glu4635Gly)

SNV
Germline

Chr19:38572176

Conflicting classifications of pathogenicity

Condition: not provided
Central core myopathy

Criteria Provided
Conflicting Classifications

CA405680961

rs_1568593984

2 SubmittersRCV000721340 RCV001825442

NM_000540.3(RYR1):c.14173-2A>G

SNV
Germline

Chr19:38577916

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA405684067

rs_1189024951

8 SubmittersRCV000721355 RCV000814221 RCV003999821 RCV005004386 RCV006633942

NM_000540.3(RYR1):c.15016G>A (p.Gly5006Ser)

SNV
Germline

Chr19:38586571

Pathogenic/Likely pathogenic

Condition: not provided
Central core myopathy
RYR1-related disorder
King Denborough syndrome
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405693838

rs_1568614042

4 SubmittersRCV000721411 RCV000785960 RCV001206699 RCV005409728

NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys)

SNV
Germline

Chr19:38516165

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405690443

rs_978984063

2 SubmittersRCV000786072 RCV006552821

NM_000540.3(RYR1):c.14411A>G (p.His4804Arg)

SNV
Germline

Chr19:38580028

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405686998

rs_1568604308

1 SubmittersRCV000786073

NM_000540.3(RYR1):c.4837C>T (p.Gln1613Ter)

SNV
Germline

Chr19:38483419

Pathogenic/Likely pathogenic

Central core myopathy
RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405650606

rs_1332371891

4 SubmittersRCV000754733 RCV002536549 RCV005021145 RCV004586913

NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)

SNV
Germline

Chr19:38448392

Conflicting classifications of pathogenicity

Central core myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405681155

rs_1278804520

4 SubmittersRCV000760976 RCV003757205 RCV006552827

NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)

SNV
Germline

Chr19:38502900

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA082875

rs_1263237391

2 SubmittersRCV000770989 RCV003328625

NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)

SNV
Germline

Chr19:38504839

Pathogenic

Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405676798

rs_1568510406

2 SubmittersRCV000785057

NM_000540.3(RYR1):c.3291C>T (p.Gly1097=)

SNV
Germline

Chr19:38467722

Likely pathogenic

Central core myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA507234701

rs_1234999215

3 SubmittersRCV000785893 RCV001345997 RCV004001543

NM_000540.3(RYR1):c.1956G>A (p.Ala652=)

SNV
Germline

Chr19:38458081

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA062717

rs_202105428

6 SubmittersRCV000805637 RCV001310399 RCV001125553 RCV001125551 RCV001125552

NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)

SNV
Germline

Chr19:38466204

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405634883

rs_1440262870

6 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735

NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)

SNV
Germline

Chr19:38494522

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA068263

rs_776830747

8 SubmittersRCV000813191 RCV001729710 RCV003132080 RCV004001749 RCV005056593

NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)

SNV
Germline

Chr19:38584963

Pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405690192

rs_193922887

2 SubmittersRCV000801582 RCV000853348

NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)

SNV
Germline

Chr19:38459268

Pathogenic/Likely pathogenic

Central core myopathy
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA063087

rs_371455345

2 SubmittersRCV000825544 RCV001383922

NM_000540.3(RYR1):c.46-4G>A

SNV
Germline

Chr19:38440741

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA066333

rs_201094741

6 SubmittersRCV000867181 RCV002487901 RCV004002997 RCV005633769

NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)

SNV
Germline

Chr19:38473667

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA308079786

rs_915321867

4 SubmittersRCV001126226 RCV001126227 RCV001126225 RCV001402423

NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg)

SNV
Germline

Chr19:38499730

Likely pathogenic

Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405668243

rs_1568501059

2 SubmittersRCV000990201 RCV005411626

NM_000540.3(RYR1):c.668A>G (p.His223Arg)

SNV
Germline

Chr19:38446508

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA068570

rs_766836202

6 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442

NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)

SNV
Germline

Chr19:38458169

Conflicting classifications of pathogenicity

Central core myopathy
RYR1-related disorder
Condition: not provided
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA062775

rs_776252106

6 SubmittersRCV001004922 RCV001862742 RCV002305557 RCV002479200 RCV004004475

NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)

SNV
Germline

Chr19:38458108

Pathogenic/Likely pathogenic

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion

Criteria Provided
Multiple Submitters
No Conflicts

CA405695616

rs_1305971341

5 SubmittersRCV001058792 RCV001784614 RCV004000105 RCV002505620

NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu)

SNV
Germline

Chr19:38466117

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA064173

rs_143179371

6 SubmittersRCV001048927 RCV002489605 RCV003130122 RCV003989632 RCV004004791

NM_000540.3(RYR1):c.7064G>A (p.Arg2355Gln)

SNV
Germline

Chr19:38499671

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069098

rs_144526634

5 SubmittersRCV001066687 RCV002482105 RCV004000162 RCV005603684

NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)

SNV
Germline

Chr19:38505340

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA071860

rs_767805554

6 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460

NM_000540.3(RYR1):c.9472C>T (p.Leu3158=)

SNV
Germline

Chr19:38512483

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA073657

rs_770942162

4 SubmittersRCV001057839 RCV002482022 RCV004000093

NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061315

rs_193922875

6 SubmittersRCV001040954 RCV002481884 RCV003130110 RCV004819235 RCV006545807

NM_000540.3(RYR1):c.10824+8G>A

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA054848

rs_374325589

4 SubmittersRCV001034975 RCV002489536 RCV004590030 RCV004689962

NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly)

SNV
Germline

Chr19:38580064

Pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405687172

rs_1974129338

1 SubmittersRCV001260939

NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln)

SNV
Germline

Chr19:38455529

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia of anesthesia
Central core myopathy

Criteria Provided
Conflicting Classifications

CA062238

rs_772978260

10 SubmittersRCV001092336 RCV001221706 RCV001258047 RCV004017787 RCV005253721

NM_000540.3(RYR1):c.10049G>A (p.Arg3350Gln)

SNV
Germline

Chr19:38519244

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA052265

rs_538500669

6 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV004000222 RCV005409773

NM_000540.3(RYR1):c.663C>T (p.Leu221=)

SNV
Germline

Chr19:38446503

Conflicting classifications of pathogenicity

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA068502

rs_761319979

2 SubmittersRCV001124359 RCV001124358 RCV001124360

NM_000540.3(RYR1):c.7743T>C (p.Ser2581=)

SNV
Germline

Chr19:38502635

Conflicting classifications of pathogenicity

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA507243807

rs_1477392994

2 SubmittersRCV001123653 RCV001123654 RCV001123655 RCV002070017

NM_000540.3(RYR1):c.9096T>A (p.Ser3032=)

SNV
Germline

Chr19:38510755

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA073142

rs_144067910

4 SubmittersRCV001125256 RCV001126230 RCV001125257 RCV001410297

NM_000540.3(RYR1):c.9726C>T (p.Asp3242=)

SNV
Germline

Chr19:38517399

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA084847

rs_1971019633

2 SubmittersRCV001128464 RCV001128465 RCV001128466 RCV005093592

NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)

SNV
Germline

Chr19:38517405

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA074094

rs_764290955

2 SubmittersRCV001128469 RCV001128467 RCV001128468 RCV002558261

NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)

SNV
Germline

Chr19:38517558

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA074275

rs_776468955

3 SubmittersRCV001123860 RCV001123859 RCV001126499 RCV002070021 RCV005633899

NM_000540.3(RYR1):c.10656T>C (p.Phe3552=)

SNV
Germline

Chr19:38527022

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA507236861

rs_1971495978

2 SubmittersRCV001124051 RCV001124050 RCV001124052

NM_000540.3(RYR1):c.2682+13C>T

SNV
Germline

Chr19:38463540

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA063708

rs_745844424

2 SubmittersRCV001122047 RCV001122048 RCV001122049 RCV002558211

NM_000540.3(RYR1):c.6128-13T>G

SNV
Germline

Chr19:38492477

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA1139666427

rs_1969594703

2 SubmittersRCV001124245 RCV001124246 RCV001124247

NM_000540.3(RYR1):c.9555-14G>A

SNV
Germline

Chr19:38516073

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA073800

rs_763353979

4 SubmittersRCV001128377 RCV001126334 RCV001128376 RCV002070065 RCV003490081

NM_000540.3(RYR1):c.9555-4C>T

SNV
Germline

Chr19:38516083

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA632876987

rs_1417337927

2 SubmittersRCV001122655 RCV001122654 RCV001122656 RCV001856618

NM_000540.3(RYR1):c.10441-8T>C

SNV
Germline

Chr19:38523907

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA053536

rs_755330618

3 SubmittersRCV001126619 RCV001126620 RCV001126621 RCV003757216

NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)

SNV
Germline

Chr19:38543363

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA057532

rs_776123178

4 SubmittersRCV001131555 RCV001128887 RCV001128886 RCV003757218

NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)

SNV
Germline

Chr19:38565174

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA507355428

rs_1292456827

3 SubmittersRCV001129124 RCV001129123 RCV001129125 RCV001406467

NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)

SNV
Germline

Chr19:38499636

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069044

rs_138617219

3 SubmittersRCV001217935 RCV002504268 RCV005402988

NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)

SNV
Germline

Chr19:38502902

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA082877

rs_1365856881

7 SubmittersRCV001219907 RCV001780144 RCV003156321 RCV005005088 RCV004803576

NM_000540.3(RYR1):c.14752G>A (p.Asp4918Asn)

SNV
Germline

Chr19:38585048

Pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405690809

rs_1469916243

2 SubmittersRCV001210308 RCV005419037

NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)

SNV
Germline

Chr19:38523927

Pathogenic

RYR1-related disorder
Central core myopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA308134023

rs_199895006

3 SubmittersRCV001227328 RCV003989647 RCV001780158

NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)

SNV
Germline

Chr19:38584997

Likely pathogenic

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Single Submitter

CA061530

rs_764602570

1 SubmittersRCV001249650

NM_000540.3(RYR1):c.10924T>G (p.Tyr3642Asp)

SNV
Germline

Chr19:38528405

Likely pathogenic

Central core myopathy

No Assertion Criteria Provided

CA405649642

rs_1971575594

1 SubmittersRCV001257448

NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)

SNV
Germline

Chr19:38505380

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Conflicting Classifications

CA071914

rs_146514343

3 SubmittersRCV001332541 RCV004005141 RCV003989686

NM_000540.3(RYR1):c.1593C>T (p.Gly531=)

SNV
Germline

Chr19:38455467

Conflicting classifications of pathogenicity

Central core myopathy
RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA308123278

rs_927675372

6 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143 RCV006266710

NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA062851

rs_565825739

7 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV003591856 RCV004005144

NM_000540.3(RYR1):c.2682G>T (p.Pro894=)

SNV
Germline

Chr19:38463527

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA308074291

rs_919322708

5 SubmittersRCV001370546 RCV002488164 RCV003235565 RCV004808034

NM_000540.3(RYR1):c.7613C>T (p.Thr2538Met)

SNV
Germline

Chr19:38500989

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Central core myopathy
Inborn genetic diseases
not specified
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069809

rs_575446156

7 SubmittersRCV001363484 RCV001773721 RCV002291505 RCV004656561 RCV006274208 RCV006548208

NM_000540.3(RYR1):c.10347C>T (p.His3449=)

SNV
Germline

Chr19:38523115

Conflicting classifications of pathogenicity

RYR1-related disorder
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA053217

rs_373702420

4 SubmittersRCV001370548 RCV002504621 RCV004006823

NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile)

SNV
Germline

Chr19:38469069

Pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405638644

rs_1280346095

1 SubmittersRCV001449965

NM_000540.3(RYR1):c.5915A>T (p.Asn1972Ile)

SNV
Germline

Chr19:38490176

Pathogenic/Likely pathogenic

Central core myopathy
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA405660482

rs_1377668924

2 SubmittersRCV001530192 RCV001873747

NM_000540.3(RYR1):c.14364+1G>A

SNV
Germline

Chr19:38578205

Conflicting classifications of pathogenicity

Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Conflicting Classifications

CA405685479

rs_1974046221

5 SubmittersRCV001531894 RCV003757223 RCV004804225 RCV004017845

NM_000540.3(RYR1):c.1630G>T (p.Asp544Tyr)

SNV
Germline

Chr19:38455504

Likely pathogenic

Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided

Reviewed By Expert Panel

CA308123345

rs_113812662

3 SubmittersRCV001580389 RCV005409829 RCV006272455

NM_000540.3(RYR1):c.8310+1G>T

SNV
Germline

Chr19:38505082

Pathogenic

Condition: not provided
Central core myopathy
RYR1-related disorder
RYR1-related myopathy
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA405677313

rs_1970380121

5 SubmittersRCV001663366 RCV001775179 RCV003757225 RCV004738355 RCV004008957

NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser)

SNV
Germline

Chr19:38580449

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405687854

rs_118192146

1 SubmittersRCV001829286

NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)

SNV
Germline

Chr19:38585945

Pathogenic/Likely pathogenic

Central core myopathy
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA405692175

rs_2145917373

2 SubmittersRCV001829287 RCV002034691

NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)

SNV
Germline

Chr19:38496923

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Condition: not provided
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA068817

rs_761154999

4 SubmittersRCV001943281 RCV002484475 RCV004720975 RCV004795346

NM_000540.3(RYR1):c.14130-2A>G

SNV
Germline

Chr19:38575917

Pathogenic

RYR1-related disorder
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA405683232

rs_1457662393

4 SubmittersRCV001941795 RCV002497871 RCV004010985 RCV003325593

NM_000540.3(RYR1):c.947G>A (p.Arg316His)

SNV
Germline

Chr19:38448501

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
not specified

Criteria Provided
Conflicting Classifications

CA073714

rs_193922761

5 SubmittersRCV001962291 RCV002490033 RCV004009225 RCV005253914 RCV005409051

NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)

SNV
Germline

Chr19:38446710

Conflicting classifications of pathogenicity

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
not specified
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA069619

rs_1801086

5 SubmittersRCV002008037 RCV004011032 RCV004699607 RCV005025566

NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)

SNV
Germline

Chr19:38580040

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405687045

rs_1274780855

3 SubmittersRCV002035647 RCV002283577 RCV004804342

NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)

SNV
Germline

Chr19:38543372

Likely pathogenic

Central core myopathy

No Assertion Criteria Provided

CA405661171

rs_1027596623

1 SubmittersRCV002281653

NM_000540.3(RYR1):c.2168-1G>A

SNV
Germline

Chr19:38459145

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405627486

rs_2514048182

1 SubmittersRCV002284047

NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)

SNV
Germline

Chr19:38580454

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA081265

rs_2514752302

1 SubmittersRCV002290319

NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)

SNV
Germline

Chr19:38510518

Pathogenic/Likely pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405683370

rs_1381679767

2 SubmittersRCV003064582 RCV003340598

NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)

SNV
Germline

Chr19:38460463

Pathogenic/Likely pathogenic

RYR1-related disorder
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA063249

rs_150633775

2 SubmittersRCV003082827 RCV005021563

NM_000540.3(RYR1):c.2633A>G (p.His878Arg)

SNV
Germline

Chr19:38463478

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy

Criteria Provided
Conflicting Classifications

CA405631967

rs_2514074117

2 SubmittersRCV002635880 RCV003988015

NM_000540.3(RYR1):c.6856C>G (p.Leu2286Val)

SNV
Germline

Chr19:38496919

Likely pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405666573

rs_369610397

2 SubmittersRCV002761273 RCV005416646

NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)

SNV
Germline

Chr22:42631422

Conflicting classifications of pathogenicity

Deficiency of cytochrome-b5 reductase
Central core myopathy

Criteria Provided
Conflicting Classifications

CA324703519

rs_774242947

3 SubmittersRCV003145963 RCV004813221

NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)

SNV
Germline

Chr19:38517583

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA074340

rs_746935915

1 SubmittersRCV003335792

NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)

SNV
Unknown

Chr19:38580055

Likely pathogenic

Central core myopathy

No Assertion Criteria Provided

CA405687138

rs_2514748917

1 SubmittersRCV003484986

NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)

SNV
Germline

Chr19:38584974

Likely pathogenic

RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA405690254

rs_118192151

2 SubmittersRCV003591149 RCV005030121

NM_000540.3(RYR1):c.11608+1G>A

SNV
Germline

Chr19:38536768

Likely pathogenic

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Multiple Submitters
No Conflicts

CA405657664

rs_1354044963

2 SubmittersRCV003757143 RCV005014940

NM_000540.3(RYR1):c.12095-2A>G

SNV
Germline

Chr19:38548231

Likely pathogenic

RYR1-related disorder
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA405665017

rs_2514599811

2 SubmittersRCV003849843 RCV005015040

NM_000540.3(RYR1):c.7927-1G>T

SNV
Germline

Chr19:38504219

Likely pathogenic

RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
King Denborough syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA405675342

rs_2514351010

2 SubmittersRCV003874299 RCV005030352

NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)

SNV
Germline

Chr19:38585938

Pathogenic

King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Single Submitter

CA405692125

rs_979090493

1 SubmittersRCV003883301

NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)

SNV
Germline

Chr19:38499975

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405669469

rs_193922809

1 SubmittersRCV003990362

NM_000540.3(RYR1):c.11193+1G>A

SNV
Germline

Chr19:38532542

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Conflicting Classifications

CA308084134

rs_111986316

2 SubmittersRCV004008065 RCV004018018

NM_000540.3(RYR1):c.1441-2A>G

SNV
Germline

Chr19:38455233

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405688274

rs_1163185721

1 SubmittersRCV004018077

NM_000540.3(RYR1):c.2578-2A>G

SNV
Germline

Chr19:38463421

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405631644

rs_2514073477

1 SubmittersRCV004018253

NM_000540.3(RYR1):c.7968C>A (p.Cys2656Ter)

SNV
Germline

Chr19:38504261

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

CA405675652

rs_1305053560

1 SubmittersRCV004018254

NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)

SNV
Germline

Chr19:38570614

Likely pathogenic

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004795613

NM_000540.3(RYR1):c.12623A>G (p.Gln4208Arg)

SNV
Germline

Chr19:38561453

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004813347

NM_000540.3(RYR1):c.14228G>T (p.Gly4743Val)

SNV
Germline

Chr19:38577973

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV004821176

NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)

SNV
Germline

Chr19:38446558

Pathogenic

King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005022987

NM_000540.3(RYR1):c.3382-1G>A

SNV
Germline

Chr19:38468965

Likely pathogenic

King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005022989

NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)

SNV
Germline

Chr19:38516157

Likely pathogenic

King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005022991

NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)

SNV
Germline

Chr19:38528309

Likely pathogenic

King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

1 SubmittersRCV005022992

NM_000540.3(RYR1):c.10450A>G (p.Ile3484Val)

SNV
Germline

Chr19:38523924

Conflicting classifications of pathogenicity

RYR1-related disorder
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

4 SubmittersRCV005148756 RCV005392977 RCV006378072 RCV006553352

NM_000540.3(RYR1):c.7354C>G (p.Arg2452Gly)

SNV
Germline

Chr19:38500636

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV006454989