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	Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder Inborn genetic diseases desflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 enflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity	Reviewed By Expert Panel	CA024311	rs_118192172	30 SubmittersRCV000119586 RCV000608635 RCV000538121 RCV000624176 RCV001787388 RCV000013830 RCV001787389 RCV001787394 RCV002496349 RCV001787390 RCV001787391 RCV001787392 RCV001787393
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 desflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024750	rs_28933396	11 SubmittersRCV000013832 RCV000119699 RCV000707405 RCV001787396 RCV001787395 RCV001787397 RCV001787398 RCV001787399 RCV001787400 RCV001787401 RCV004017238 RCV005409599 RCV002281705
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 desflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA018598	rs_118192161	12 SubmittersRCV000013833 RCV000013834 RCV000119625 RCV000806352 RCV001787402 RCV001787707 RCV001787709 RCV001787706 RCV001787708 RCV001787710 RCV001787711 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 desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity Central core myopathy Inborn genetic diseases King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Reviewed By Expert Panel	CA024747	rs_121918593	32 SubmittersRCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787719 RCV001787720 RCV001787721 RCV001787723 RCV001787725 RCV001787722 RCV001787724 RCV002288488 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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy methoxyflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity	Reviewed By Expert Panel	CA024784	rs_28933397	12 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV002490361 RCV001787730 RCV001787732 RCV001787726 RCV001787727 RCV001787728 RCV001787729
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 enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity	Reviewed By Expert Panel	CA024590	rs_118192175	11 SubmittersRCV000013840 RCV000056223 RCV000119653 RCV001385701 RCV001787741 RCV001787743 RCV001787744 RCV001787745 RCV001787746 RCV001787740 RCV001787742
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 methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity	Reviewed By Expert Panel	CA024593	rs_118192163	9 SubmittersRCV000013841 RCV000013842 RCV000119654 RCV001787751 RCV001787752 RCV001787753 RCV001787747 RCV001787749 RCV001204982 RCV001787748 RCV001787750
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	SNV Germline	Chr19:38494579	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy isoflurane response - Toxicity sevoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity Condition: not provided RYR1-related disorder desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024603	rs_118192176	10 SubmittersRCV000013845 RCV000578323 RCV001729347 RCV001787764 RCV001787766 RCV001787765 RCV001787767 RCV000119656 RCV000557804 RCV001787761 RCV001787762 RCV001787763 RCV003398498
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	SNV Germline	Chr19:38496283	Pathogenic	Malignant hyperthermia, susceptibility to, 1 Condition: not provided History of neonatal hypotonia Absence of the sacrum Ptosis Malignant hyperthermia of anesthesia RYR1-related disorder King Denborough syndrome Inborn genetic diseases Malignant hyperthermia, susceptibility to Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy King Denborough syndrome Central core myopathy	Reviewed By Expert Panel	CA024622	rs_118192177	24 SubmittersRCV000013846 RCV000119662 RCV000162149 RCV000606881 RCV000655558 RCV001729348 RCV004658961 RCV004556715 RCV005016260 RCV005624685
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	SNV Germline	Chr19:38580440	Conflicting classifications of pathogenicity; drug response	Central core myopathy RYR1-related disorder Condition: not provided enflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 desflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia of anesthesia RYR1-related myopathy	Reviewed By Expert Panel	CA024187	rs_63749869	15 SubmittersRCV000013852 RCV000534187 RCV000119533 RCV001787783 RCV000851296 RCV001787782 RCV001787784 RCV001787785 RCV001787786 RCV001787787 RCV001787788 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 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Centronuclear myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	17 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003996093 RCV003447473 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 King Denborough syndrome Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	11 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 RYR1-related disorder Malignant hyperthermia of anesthesia	Criteria Provided Multiple Submitters No Conflicts	CA024078	rs_118192166	6 SubmittersRCV000013864 RCV000119487 RCV001851836 RCV001824568
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)	SNV Germline	Chr19:38512253	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 not specified Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024970	rs_147012990	8 SubmittersRCV000210003 RCV000253393 RCV000300656 RCV000357829 RCV000404978 RCV000721732 RCV001086670
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	SNV Germline	Chr19:38519399	Pathogenic	Congenital myopathy with fiber type disproportion Central core myopathy Condition: not provided not specified RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA023822	rs_367543058	14 SubmittersRCV000034925 RCV000233916 RCV000147397 RCV000401146 RCV000529599 RCV004786294 RCV003996181 RCV005252703 RCV005394216
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	SNV Germline	Chr19:38451846	Likely pathogenic	Central core myopathy Congenital myopathy with fiber type disproportion Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA023960	rs_118192117	3 SubmittersRCV000056214 RCV000034926 RCV000119451 RCV005089338
NM_000540.3(RYR1):c.10348-6C>G	SNV Germline	Chr19:38523211	Pathogenic	RYR1-related disorder Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Inborn genetic diseases King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Myopathy, RYR1-associated RYR1-related myopathy	Reviewed By Expert Panel	CA023836	rs_193922837	18 SubmittersRCV000535801 RCV000119410 RCV005359124 RCV001775081 RCV000624604 RCV001249074 RCV005003479 RCV003997313 RCV004586556 RCV004689614 RCV005430496
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	Pathogenic/Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA024167	rs_118192143	5 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	Condition: not provided Central core myopathy RYR1-related disorder	Criteria Provided Single Submitter	CA024237	rs_118192183	3 SubmittersRCV000119554 RCV000056195 RCV001382210
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)	SNV Germline	Chr19:38572224	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	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 Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Reviewed By Expert Panel	CA024775	rs_118192123	5 SubmittersRCV000056200 RCV000119708 RCV001588885 RCV001383435
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)	SNV Germline	Chr19:38519295	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related myopathy	Reviewed By Expert Panel	CA023815	rs_118192126	4 SubmittersRCV000056203 RCV000119402 RCV001449987 RCV005252722
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	Condition: not provided Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024069	rs_118192131	4 SubmittersRCV000119484 RCV000056206 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 methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity RYR1-related myopathy	Reviewed By Expert Panel	CA024770	rs_118192124	15 SubmittersRCV000056226 RCV000119706 RCV000527240 RCV001787851 RCV001787852 RCV001787853 RCV002281899 RCV001729374 RCV001787847 RCV001787849 RCV001787848 RCV001787850 RCV002221195
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	SNV Germline	Chr19:38500643	Pathogenic; drug response	Central core myopathy Condition: not provided desflurane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder halothane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia of anesthesia King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024781	rs_118192122	17 SubmittersRCV000056227 RCV000119710 RCV001787854 RCV001787855 RCV001787857 RCV000709760 RCV000699835 RCV001787856 RCV001787858 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 Congenital myopathy with fiber type disproportion RYR1-related disorder Abnormality of the musculature Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Reviewed By Expert Panel	CA024819	rs_118192178	13 SubmittersRCV000056228 RCV000119718 RCV001198416 RCV000552166 RCV001814037 RCV000624571 RCV002281900 RCV001731347
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)	SNV Germline	Chr19:38506952	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024952	rs_118192125	4 SubmittersRCV000119763 RCV000056229 RCV001383436 RCV003996487
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)	SNV Germline	Chr19:38580090	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA024150	rs_118192180	6 SubmittersRCV000056232 RCV000119518 RCV003996488 RCV001854163 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	Condition: not provided Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA024220	rs_118192150	9 SubmittersRCV000119545 RCV000056236 RCV001046476 RCV003996489 RCV002496742
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 RYR1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA024080	rs_118192134	4 SubmittersRCV000056242 RCV000536286 RCV000119488
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.10119G>A (p.Val3373=)	SNV Germline	Chr19:38519314	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA023817	rs_140689610	12 SubmittersRCV000308726 RCV000344949 RCV000407628 RCV000250990 RCV000348497 RCV001080062 RCV000721187
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)	SNV Germline	Chr19:38565213	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 not specified Central core myopathy RYR1-related disorder Malignant hyperthermia of anesthesia	Criteria Provided Conflicting Classifications	CA024015	rs_193922854	13 SubmittersRCV000079126 RCV000260031 RCV000355907 RCV000415696 RCV000252273 RCV000354942 RCV001083097 RCV002051651
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)	SNV Germline	Chr19:38580122	Conflicting classifications of pathogenicity	not specified Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA024159	rs_118126378	15 SubmittersRCV000079132 RCV000304667 RCV000390273 RCV000259804 RCV000361747 RCV001082862 RCV000721374
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 RYR1-related myopathy Centronuclear myopathy Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA024280	rs_398123471	7 SubmittersRCV000079134 RCV000801203 RCV004700390 RCV005250014 RCV004795343 RCV005025133
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)	SNV Germline	Chr19:38489266	Conflicting classifications of pathogenicity	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024532	rs_143418190	6 SubmittersRCV000079153 RCV000405493 RCV000286979 RCV000280975 RCV000335107 RCV001088721
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)	SNV Germline	Chr19:38494436	Conflicting classifications of pathogenicity	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024569	rs_398123473	5 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)	SNV Germline	Chr19:38496311	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024637	rs_146617004	7 SubmittersRCV000314006 RCV000397477 RCV000308423 RCV000363070 RCV000723593 RCV001087587
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)	SNV Germline	Chr19:38502629	Conflicting classifications of pathogenicity	Condition: not provided not specified Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024844	rs_114975624	8 SubmittersRCV000147443 RCV000079168 RCV000307589 RCV000329613 RCV000276971 RCV000369238 RCV001079993
NM_000243.3(MEFV):c.1261-28A>G	SNV Germline	Chr16:3249032	Conflicting classifications of pathogenicity	Familial Mediterranean fever Condition: not provided Central core myopathy Acute febrile neutrophilic dermatosis Familial Mediterranean fever, autosomal dominant	Criteria Provided Conflicting Classifications	CA280388	rs_104895140	6 SubmittersRCV000083690 RCV001711585 RCV001258254 RCV003126424 RCV003126423
NM_000540.3(RYR1):c.1123-11C>T	SNV Germline	Chr19:38451753	Conflicting classifications of pathogenicity	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA023902	rs_3745845	8 SubmittersRCV000119430 RCV000280393 RCV000295802 RCV000398335 RCV000243592 RCV000334467 RCV002055317
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	SNV Germline	Chr19:38534775	Likely pathogenic	Condition: not provided Malignant hyperthermia of anesthesia Neuromuscular disease Progressive distal muscle weakness Delayed gross motor development Pelvic girdle muscle weakness Proximal muscle weakness Scoliosis RYR1-related disorder Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA023909	rs_193922839	14 SubmittersRCV000119432 RCV000610269 RCV000415300 RCV001244597 RCV003258668 RCV002281938 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 Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA023926	rs_148399313	8 SubmittersRCV000119437 RCV001389265 RCV001580388 RCV004796024 RCV004017404
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	SNV Germline	Chr19:38543551	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy Central core myopathy See cases not specified RYR1-related myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	Criteria Provided Conflicting Classifications	CA023938	rs_147136339	23 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV002251988 RCV003398723 RCV003993810 RCV005016406
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)	SNV Germline	Chr19:38451859	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA023973	rs_3745846	5 SubmittersRCV000119456 RCV000303170 RCV000337884 RCV000360290 RCV001087365 RCV000391072
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	SNV Germline	Chr19:38440829	Likely pathogenic; drug response	Condition: not provided sevoflurane response - Toxicity RYR1-related disorder desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity Malignant hyperthermia of anesthesia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 succinylcholine response - Toxicity Central core myopathy	Reviewed By Expert Panel	CA024034	rs_193922748	13 SubmittersRCV000119473 RCV001787949 RCV001238887 RCV001787944 RCV001787945 RCV001787946 RCV001787947 RCV001787948 RCV004689616 RCV005025189 RCV001588936 RCV001787950 RCV003338417
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 Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Reviewed By Expert Panel	CA024118	rs_193922868	12 SubmittersRCV000119503 RCV001380753 RCV003231155 RCV002498548
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met)	SNV Germline	Chr19:38580503	Pathogenic/Likely pathogenic	Condition: not provided RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA024204	rs_193922884	6 SubmittersRCV000119538 RCV000695746 RCV002288602
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	SNV Germline	Chr19:38586140	Likely pathogenic	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Malignant hyperthermia of anesthesia Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Inborn genetic diseases	Reviewed By Expert Panel	CA024276	rs_146876145	24 SubmittersRCV000148804 RCV000119571 RCV000554319 RCV000605381 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 Malignant hyperthermia of anesthesia King Denborough syndrome King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases	Reviewed By Expert Panel	CA024291	rs_111888148	22 SubmittersRCV000119576 RCV000148805 RCV000655554 RCV001449797 RCV001249073 RCV005016407 RCV004658970
NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)	SNV Germline	Chr19:38455471	Pathogenic; drug response	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity Malignant hyperthermia of anesthesia Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy halothane response - Toxicity methoxyflurane response - Toxicity	Reviewed By Expert Panel	CA024293	rs_193922768	10 SubmittersRCV000119577 RCV001588943 RCV000802081 RCV003227650 RCV003227652 RCV003227654 RCV003227655 RCV003227649 RCV004700425 RCV005016408 RCV003227651 RCV003227653
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 Malignant hyperthermia, susceptibility to, 1 sevoflurane response - Toxicity succinylcholine response - Toxicity Central core myopathy enflurane response - Toxicity isoflurane response - Toxicity	Reviewed By Expert Panel	CA024299	rs_193922770	6 SubmittersRCV000119581 RCV000536735 RCV001787965 RCV001787967 RCV001787969 RCV002281942 RCV001787970 RCV001787971 RCV003325460 RCV001787966 RCV001787968
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 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity	Reviewed By Expert Panel	CA024313	rs_193922772	9 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002477305 RCV002222024 RCV002222025 RCV002222026
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)	SNV Germline	Chr19:38458246	Conflicting classifications of pathogenicity	Condition: not provided not specified Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024329	rs_146104858	13 SubmittersRCV000119590 RCV000252771 RCV000383723 RCV000291947 RCV000345447 RCV000288116 RCV001085961
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	SNV Germline	Chr19:38485838	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Inborn genetic diseases RYR1-related disorder Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Reviewed By Expert Panel	CA024494	rs_193922781	16 SubmittersRCV000119633 RCV000148807 RCV001449805 RCV001265978 RCV001057054 RCV002505055
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.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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases	Reviewed By Expert Panel	CA024651	rs_193922797	19 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV003323407 RCV005003481 RCV005268555
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	SNV Germline	Chr19:38499223	Pathogenic; drug response	Condition: not provided halothane response - Toxicity methoxyflurane response - Toxicity RYR1-related disorder desflurane response - Toxicity enflurane response - Toxicity Malignant hyperthermia of anesthesia succinylcholine response - Toxicity Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 isoflurane response - Toxicity sevoflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024662	rs_112563513	11 SubmittersRCV000119673 RCV001787974 RCV001787976 RCV000554523 RCV001787972 RCV001787973 RCV001824615 RCV001787978 RCV004698826 RCV005409618 RCV001787975 RCV001787977 RCV002281943
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	SNV Germline	Chr19:38499670	Pathogenic; drug response	Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity RYR1-related disorder enflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 desflurane response - Toxicity Central core myopathy Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024693	rs_193922803	14 SubmittersRCV000119682 RCV000763425 RCV000578408 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV000803469 RCV001787994 RCV001787999 RCV002281944 RCV001787993 RCV004813060 RCV004017408
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	SNV Germline	Chr19:38499975	Likely pathogenic; drug response	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Central core myopathy 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 Inborn genetic diseases Malignant hyperthermia, susceptibility to RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity desflurane response - Toxicity halothane response - Toxicity	Reviewed By Expert Panel	CA024738	rs_193922809	17 SubmittersRCV000119695 RCV001127649 RCV001788011 RCV001788012 RCV001788013 RCV001127651 RCV002492410 RCV001127650 RCV004019662 RCV004556734 RCV001236218 RCV001788008 RCV001788010 RCV001788007 RCV001788009
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)	SNV Germline	Chr19:38499984	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Reviewed By Expert Panel	CA024741	rs_193922810	10 SubmittersRCV000119696 RCV000148824 RCV004525874 RCV005025190 RCV001854585
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)	SNV Germline	Chr19:38458216	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy not specified Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024325	rs_138704724	13 SubmittersRCV000147417 RCV000285029 RCV000247824 RCV000380122 RCV000377071 RCV000323206 RCV001085166
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 Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024401	rs_559581937	7 SubmittersRCV000147421 RCV001237337 RCV003338423 RCV005016466 RCV005411352
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)	SNV Germline	Chr19:38475382	Pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Multiple Submitters No Conflicts	CA024435	rs_587784376	5 SubmittersRCV000147427 RCV001057643 RCV003998164 RCV005431490 RCV005016467
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)	SNV Germline	Chr19:38483476	Conflicting classifications of pathogenicity	not specified Multiminicore myopathy Central core myopathy Malignant hypothermia Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024469	rs_76537615	10 SubmittersRCV000147430 RCV000282746 RCV000298179 RCV000239106 RCV000342522 RCV000394130 RCV001288364 RCV000553661 RCV005401336
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	SNV Germline	Chr19:38496466	Conflicting classifications of pathogenicity	Multi-minicore disease and atypical periodic paralysis Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease Central core myopathy RYR1-related disorder Hydrops fetalis Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	Criteria Provided Conflicting Classifications	CA024643	rs_200563280	26 SubmittersRCV000148787 RCV000147436 RCV000171129 RCV000178453 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 Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024994	rs_587784379	7 SubmittersRCV000147451 RCV000855485 RCV001004921 RCV001036190 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 Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024341	rs_147320363	18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546 RCV005252771
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)	SNV Germline	Chr19:38517386	Conflicting classifications of pathogenicity	Axial myopathy, late-onset not specified Multiminicore myopathy Malignant hyperthermia of anesthesia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024999	rs_200950673	9 SubmittersRCV000148800 RCV000281816 RCV000378617 RCV000287628 RCV000323995 RCV000990203 RCV000382036 RCV000725266 RCV001084344
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	SNV Germline	Chr19:38543420	Conflicting classifications of pathogenicity	Congenital myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Condition: not provided Inborn genetic diseases Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA023934	rs_377178986	11 SubmittersRCV000148788 RCV000704053 RCV000990206 RCV000721251 RCV001266922 RCV002478416 RCV001795258 RCV004786401
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)	SNV Germline	Chr19:38483460	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024464	rs_369466056	5 SubmittersRCV000254093 RCV000288457 RCV000348149 RCV000394118 RCV000721563 RCV000382933 RCV001085788
NM_000540.3(RYR1):c.12283-7C>T	SNV Germline	Chr19:38561106	Conflicting classifications of pathogenicity	not specified Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Congenital myopathy	Criteria Provided Conflicting Classifications	CA023977	rs_143861818	11 SubmittersRCV000153872 RCV000321998 RCV000271306 RCV000325376 RCV000384640 RCV000513533 RCV001081922 RCV005621890
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)	SNV Germline	Chr19:38459297	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Central core myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA024345	rs_374924686	7 SubmittersRCV000328927 RCV000385851 RCV000382164 RCV001080983 RCV000271334 RCV000721447
NM_000540.3(RYR1):c.271-7C>G	SNV Germline	Chr19:38443551	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 not specified Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024366	rs_192495718	9 SubmittersRCV000269477 RCV000273582 RCV000241987 RCV000368221 RCV000329250 RCV000513860 RCV001257051
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 Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024874	rs_142558977	8 SubmittersRCV000245786 RCV000282044 RCV000335516 RCV000337138 RCV000408287 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 Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 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	CA024923	rs_144777676	8 SubmittersRCV000179139 RCV000526318 RCV000680153 RCV000765450 RCV001122357 RCV001122358
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)	SNV Germline	Chr19:38512366	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA024978	rs_61739911	6 SubmittersRCV000280267 RCV000283860 RCV000337639 RCV000407782 RCV001081180 RCV000721737
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)	SNV Germline	Chr19:38543564	Conflicting classifications of pathogenicity	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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA023939	rs_794727946	5 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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion 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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA024031	rs_794727985	5 SubmittersRCV000180735 RCV000543194 RCV002503701
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)	SNV Germline	Chr19:38565290	Conflicting classifications of pathogenicity	not specified Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024020	rs_539194350	6 SubmittersRCV000180737 RCV000286783 RCV000376367 RCV000341804 RCV000400216 RCV000721299 RCV001085625
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.9262G>A (p.Val3088Met)	SNV Germline	Chr19:38512273	Conflicting classifications of pathogenicity	Malignant hypothermia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia of anesthesia Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Long QT syndrome	Criteria Provided Conflicting Classifications	CA024973	rs_145044872	11 SubmittersRCV000203140 RCV000272384 RCV000329734 RCV000326085 RCV000383042 RCV000721734 RCV001084220 RCV002225092 RCV003318366
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	SNV Germline	Chr19:38546515	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA023962	rs_794728696	12 SubmittersRCV000210653 RCV000721259 RCV000542897 RCV002288788 RCV003114333 RCV003147380 RCV004795344
NM_000540.3(RYR1):c.14304-6C>A	SNV Germline	Chr19:38578138	Conflicting classifications of pathogenicity	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 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA024125	rs_794728693	3 SubmittersRCV000182600 RCV000702407 RCV002485210
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	8 SubmittersRCV000210545 RCV000721408 RCV000793270 RCV001449967 RCV002051687 RCV004556761 RCV004804789
NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)	SNV Germline	Chr19:38561418	Conflicting classifications of pathogenicity	not specified Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy Malignant hyperthermia of anesthesia RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA059141	rs_61739895	7 SubmittersRCV000193583 RCV000278057 RCV000293474 RCV000337896 RCV000402166 RCV000557907 RCV003996905
NM_000540.3(RYR1):c.14646G>A (p.Thr4882=)	SNV Germline	Chr19:38580504	Conflicting classifications of pathogenicity	not specified 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 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061474	rs_536148030	5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907
NM_000540.3(RYR1):c.725+6G>A	SNV Germline	Chr19:38446571	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hypothermia Condition: not provided not specified RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069403	rs_201679831	10 SubmittersRCV000286450 RCV000343659 RCV000378557 RCV000381967 RCV000202682 RCV000721647 RCV000252878 RCV001082010
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)	SNV Germline	Chr19:38440788	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073030	rs_145771708	7 SubmittersRCV000209972 RCV000399849 RCV000351450 RCV000296805 RCV000721723 RCV001086341
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)	SNV Germline	Chr19:38464674	Conflicting classifications of pathogenicity	Inborn genetic diseases Central core myopathy RYR1-related disorder Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA064079	rs_748568687	9 SubmittersRCV000210634 RCV000298912 RCV000538947 RCV000357405 RCV000210019 RCV000302588 RCV003137802 RCV003488465
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)	SNV Germline	Chr19:38502946	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 not specified RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Condition: not provided Arrhythmogenic right ventricular cardiomyopathy	Criteria Provided Conflicting Classifications	CA071016	rs_148041292	10 SubmittersRCV000209968 RCV000678749 RCV000800203 RCV000765449 RCV001356636 RCV005625449
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	SNV Germline	Chr19:38536758	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Elevated circulating creatine kinase concentration Myalgia Exercise-induced myalgia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications	CA057247	rs_138593495	6 SubmittersRCV000210015 RCV000547789 RCV000521020 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	Pathogenic	RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Multiple Submitters No Conflicts	CA16616833	rs_878854365	5 SubmittersRCV000550931 RCV001782728 RCV005003587
NM_000540.3(RYR1):c.10347+1G>A	SNV Germline	Chr19:38523116	Pathogenic/Likely pathogenic	Inborn genetic diseases 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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA053108	rs_111436401	9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320 RCV005025343
NM_000540.3(RYR1):c.255G>T (p.Val85=)	SNV Germline	Chr19:38442438	Conflicting classifications of pathogenicity	not specified Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA063447	rs_532101469	5 SubmittersRCV000252952 RCV000304675 RCV000363985 RCV000358107 RCV000655678 RCV000404669
NM_000540.3(RYR1):c.2682+7G>A	SNV Germline	Chr19:38463534	Conflicting classifications of pathogenicity	not specified Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Condition: not provided Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA063753	rs_201498416	6 SubmittersRCV000242463 RCV000294208 RCV000330535 RCV000385226 RCV000721471 RCV000290802 RCV001079133
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)	SNV Germline	Chr19:38466331	Conflicting classifications of pathogenicity	not specified Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA064432	rs_145434723	7 SubmittersRCV000249519 RCV000288869 RCV000343812 RCV000721487 RCV001084156 RCV000383257 RCV000399586
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)	SNV Germline	Chr19:38467812	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy RYR1-related disorder Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064758	rs_200780880	7 SubmittersRCV000250679 RCV000340280 RCV000397188 RCV000282896 RCV000559351 RCV000379896 RCV000721491 RCV003514334
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)	SNV Germline	Chr19:38469004	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064829	rs_201599911	5 SubmittersRCV000246040 RCV000370410 RCV000309450 RCV000366574 RCV000721495 RCV000406827 RCV001086127
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	4 SubmittersRCV000245577 RCV001128373 RCV001128374 RCV001128375 RCV002057380
NM_000540.3(RYR1):c.4294-4C>T	SNV Germline	Chr19:38477706	Conflicting classifications of pathogenicity	not specified Multiminicore myopathy Central core myopathy RYR1-related disorder Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA065904	rs_368108496	6 SubmittersRCV000250307 RCV000336036 RCV000399614 RCV001083634 RCV000301431 RCV000304590 RCV000513035 RCV003514335
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	4 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 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA066336	rs_200600174	5 SubmittersRCV000243315 RCV000292256 RCV000386558 RCV000395496 RCV000351827 RCV001487929
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)	SNV Germline	Chr19:38485626	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided RYR1-related disorder Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA066559	rs_141107290	7 SubmittersRCV000398418 RCV000301244 RCV000353072 RCV000721570 RCV001082011 RCV000367615
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 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068977	rs_202061237	6 SubmittersRCV000249710 RCV000691898 RCV000721630 RCV001125453 RCV001127566 RCV001127567
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)	SNV Germline	Chr19:38502920	Conflicting classifications of pathogenicity	not specified Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA070955	rs_145446438	6 SubmittersRCV000249188 RCV000721679 RCV001125805 RCV001125807 RCV001125806 RCV001083040
NM_000540.3(RYR1):c.9555-9G>A	SNV Germline	Chr19:38516078	Conflicting classifications of pathogenicity	not specified Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder See cases	Criteria Provided Conflicting Classifications	CA073808	rs_149569999	12 SubmittersRCV000243094 RCV000281800 RCV000373758 RCV000377361 RCV000721747 RCV000320420 RCV001085580 RCV002252065
NM_000540.3(RYR1):c.10578G>A (p.Ala3526=)	SNV Germline	Chr19:38525454	Conflicting classifications of pathogenicity	Central core myopathy not specified Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA054019	rs_368360689	6 SubmittersRCV000287336 RCV000248525 RCV000378251 RCV000283830 RCV000323697 RCV000721204 RCV001079516
NM_000540.3(RYR1):c.10938-9C>T	SNV Germline	Chr19:38528590	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy not specified Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA055430	rs_201976186	8 SubmittersRCV000305186 RCV000345117 RCV000247423 RCV000306574 RCV000407981 RCV000721217 RCV001079163
NM_000540.3(RYR1):c.11260-13C>T	SNV Germline	Chr19:38534707	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA056599	rs_540088883	4 SubmittersRCV000243303 RCV001131437 RCV001131439 RCV001131438 RCV002057370
NM_000540.3(RYR1):c.11439+9G>A	SNV Germline	Chr19:38535229	Conflicting classifications of pathogenicity	not specified Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA056930	rs_369650355	5 SubmittersRCV000246426 RCV000279931 RCV000312561 RCV000351142 RCV000392603 RCV001087535
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)	SNV Germline	Chr19:38586570	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA061956	rs_2229149	6 SubmittersRCV000241903 RCV000277489 RCV000308165 RCV000332546 RCV000362889 RCV001080361 RCV004721322
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp)	SNV Germline	Chr19:38580033	Conflicting classifications of pathogenicity	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 Conflicting Classifications	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 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Condition: not provided Inborn genetic diseases not specified RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA054285	rs_536304635	13 SubmittersRCV000280179 RCV000398390 RCV000335257 RCV000338681 RCV000656969 RCV001266921 RCV001731554 RCV000818112 RCV005016666
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)	SNV Germline	Chr19:38570637	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA060399	rs_753208767	8 SubmittersRCV000623983 RCV000721328 RCV000533233 RCV003338497 RCV003995761
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)	SNV Germline	Chr19:38496320	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber not specified Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA068516	rs_149185729	8 SubmittersRCV000261115 RCV000264217 RCV000284219 RCV000316380 RCV000378714 RCV000721620 RCV001078963
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	8 SubmittersRCV000725566 RCV001042937 RCV002519169 RCV003995775 RCV005355592
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)	SNV Germline	Chr19:38565703	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia of anesthesia Central core myopathy Multiminicore myopathy RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10605744	rs_867851900	5 SubmittersRCV000296266 RCV000344212 RCV000400884 RCV000388448 RCV000549654 RCV000721315
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)	SNV Germline	Chr19:38485635	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA066575	rs_374115286	6 SubmittersRCV000721571 RCV001081976 RCV001123941 RCV001123943 RCV001123942 RCV005055836
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)	SNV Germline	Chr19:38473649	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy RYR1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA065501	rs_777049924	9 SubmittersRCV000273611 RCV000331017 RCV000313458 RCV000370505 RCV000655552 RCV000657029 RCV005407025
NM_000540.3(RYR1):c.537+12C>A	SNV Germline	Chr19:38444273	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA066961	rs_779869638	2 SubmittersRCV000279319 RCV000315736 RCV000333314 RCV000387776 RCV002057504
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)	SNV Germline	Chr19:38469004	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Condition: not provided Central core myopathy RYR1-related disorder not specified	Criteria Provided Conflicting Classifications	CA064824	rs_201599911	6 SubmittersRCV000281594 RCV000313376 RCV000334540 RCV000721494 RCV000401348 RCV001079903 RCV000439132
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=)	SNV Germline	Chr19:38469139	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy RYR1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA064990	rs_377282283	4 SubmittersRCV000281517 RCV000320067 RCV000320847 RCV000378330 RCV001298574 RCV001552285 RCV005418083
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)	SNV Germline	Chr19:38475414	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA065784	rs_36042816	2 SubmittersRCV000266792 RCV000317226 RCV000353026 RCV000361284 RCV000873466
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met)	SNV Germline	Chr19:38475449	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA065830	rs_191656849	4 SubmittersRCV000284701 RCV000339681 RCV000383916 RCV000393166 RCV000721532 RCV001217688
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)	SNV Germline	Chr19:38477755	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA065960	rs_370851779	5 SubmittersRCV000272279 RCV000276785 RCV000327130 RCV000381702 RCV003129833 RCV003114490
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 not specified RYR1-related disorder	Criteria Provided Conflicting Classifications	CA066143	rs_767928113	4 SubmittersRCV000364887 RCV000369799 RCV004782358 RCV001224473
NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)	SNV Germline	Chr19:38485976	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA066879	rs_199837883	4 SubmittersRCV000265956 RCV000270216 RCV000308884 RCV000365875 RCV000868676 RCV003221924
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=)	SNV Germline	Chr19:38486040	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA067063	rs_772422894	2 SubmittersRCV000295445 RCV000308529 RCV000352631 RCV000395346 RCV000903221
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr)	SNV Germline	Chr19:38490628	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber 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	6 SubmittersRCV000272082 RCV000307113 RCV000364152 RCV000397620 RCV000512722 RCV000535360
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)	SNV Germline	Chr19:38490683	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA067726	rs_201310026	3 SubmittersRCV000267358 RCV000322444 RCV000371454 RCV000377017 RCV000547971
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)	SNV Germline	Chr19:38494395	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Multiminicore myopathy Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068067	rs_769443054	3 SubmittersRCV000292503 RCV000296149 RCV000351067 RCV000386877 RCV000655691 RCV004804985
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His)	SNV Germline	Chr19:38494484	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA068218	rs_530885842	4 SubmittersRCV000275501 RCV000281444 RCV000330565 RCV000375920 RCV001368607 RCV001795948
NM_000540.3(RYR1):c.7028-11C>G	SNV Germline	Chr19:38499624	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069019	rs_369342449	2 SubmittersRCV000295398 RCV000350300 RCV000389566 RCV000386259 RCV003757170
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)	SNV Germline	Chr19:38500912	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder not specified	Criteria Provided Conflicting Classifications	CA069757	rs_368560744	7 SubmittersRCV000272030 RCV000320313 RCV000329583 RCV000359718 RCV000655719 RCV001085945 RCV005434834
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=)	SNV Germline	Chr19:38502647	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA070152	rs_768702294	3 SubmittersRCV000262053 RCV000319519 RCV000371970 RCV000386494 RCV001478499
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)	SNV Germline	Chr19:38502899	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA070859	rs_762212220	2 SubmittersRCV000285159 RCV000290862 RCV000325976 RCV000385132 RCV001494688
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile)	SNV Germline	Chr19:38511586	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy Malignant hyperthermia of anesthesia 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	Criteria Provided Conflicting Classifications	CA073259	rs_200797340	7 SubmittersRCV000289050 RCV000346443 RCV000381209 RCV000384648 RCV001660679 RCV000655514 RCV005018684 RCV003995872
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)	SNV Germline	Chr19:38512272	Conflicting classifications of pathogenicity	Multiminicore myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073441	rs_56338790	7 SubmittersRCV000265326 RCV000268916 RCV000304062 RCV003995873 RCV000361218 RCV000721733 RCV001087825
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)	SNV Germline	Chr19:38523228	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Multiminicore myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA053293	rs_376830015	3 SubmittersRCV000275472 RCV000315315 RCV000330605 RCV000369963 RCV000721200 RCV001465261
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)	SNV Germline	Chr19:38535193	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA056876	rs_376851030	4 SubmittersRCV000281147 RCV000338508 RCV000377549 RCV000398248 RCV000655610 RCV003133227
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)	SNV Germline	Chr19:38535997	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia of anesthesia Multiminicore myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA057084	rs_151239950	4 SubmittersRCV000306797 RCV000363542 RCV000364857 RCV000391757 RCV001050295 RCV003514351 RCV005480357
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=)	SNV Germline	Chr19:38565288	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber 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 SubmittersRCV000290164 RCV000326773 RCV000340398 RCV000384595 RCV002523065
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)	SNV Germline	Chr19:38565372	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy Malignant hyperthermia of anesthesia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA059539	rs_758223017	2 SubmittersRCV000277297 RCV000313598 RCV000363576 RCV000366875 RCV003757174
NM_000540.3(RYR1):c.13191C>T (p.Ala4397=)	SNV Germline	Chr19:38565525	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA059625	rs_543458339	3 SubmittersRCV000285745 RCV000321065 RCV000336119 RCV000380159 RCV000655645 RCV002225586
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)	SNV Germline	Chr19:38578028	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA061035	rs_201157293	6 SubmittersRCV000310165 RCV000339321 RCV000345135 RCV000556274 RCV000401414 RCV003133228
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=)	SNV Germline	Chr19:38585002	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10642775	rs_886054411	3 SubmittersRCV000287271 RCV000336592 RCV000342306 RCV000395190 RCV001461603
NM_000540.3(RYR1):c.*135C>T	SNV Germline	Chr19:38587555	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA10642776	rs_188314477	1 SubmittersRCV000274180 RCV000279566 RCV000319777 RCV000374482
NM_000540.3(RYR1):c.537+13G>A	SNV Germline	Chr19:38444274	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia RYR1-related disorder Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy	Criteria Provided Conflicting Classifications	CA066968	rs_754569485	2 SubmittersRCV000280476 RCV003757168 RCV000374886 RCV000340557 RCV000390244
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=)	SNV Germline	Chr19:38473535	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA065352	rs_144350050	5 SubmittersRCV000290315 RCV000347639 RCV000381142 RCV000385854 RCV000721514 RCV001086546
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)	SNV Germline	Chr19:38473592	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA065445	rs_763082630	2 SubmittersRCV000300437 RCV000340476 RCV000352945 RCV000398871 RCV001426429
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)	SNV Germline	Chr19:38475423	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10648631	rs_886054385	3 SubmittersRCV000262875 RCV000292316 RCV000317939 RCV000386481 RCV001424923
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)	SNV Germline	Chr19:38475426	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA065813	rs_2229141	8 SubmittersRCV000288850 RCV000333270 RCV000347977 RCV000387872 RCV000721530 RCV001088328 RCV005268595
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro)	SNV Germline	Chr19:38494430	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA068150	rs_201649680	2 SubmittersRCV000303533 RCV000358367 RCV000393407 RCV000398295 RCV003320631
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)	SNV Germline	Chr19:38496317	Conflicting classifications of pathogenicity	Multiminicore myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy RYR1-related disorder Malignant hyperthermia of anesthesia	Criteria Provided Conflicting Classifications	CA068509	rs_371006370	2 SubmittersRCV000319895 RCV000273945 RCV000355962 RCV000868600 RCV000368727
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)	SNV Germline	Chr19:38502886	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy Malignant hyperthermia of anesthesia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA070814	rs_777420696	2 SubmittersRCV000265194 RCV000320354 RCV000355376 RCV000379531 RCV002057507
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=)	SNV Germline	Chr19:38504759	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA071456	rs_368063600	2 SubmittersRCV000259500 RCV000284075 RCV000319320 RCV000373972 RCV000861066
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=)	SNV Germline	Chr19:38505871	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA072075	rs_761622550	2 SubmittersRCV000266825 RCV000326628 RCV000362543 RCV000361260 RCV002057508
NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn)	SNV Germline	Chr19:38505919	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Central core myopathy Multiminicore myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA072142	rs_140171924	3 SubmittersRCV000272700 RCV000292819 RCV000327865 RCV004804986 RCV002521223 RCV000387044
NM_000540.3(RYR1):c.9555-10C>T	SNV Germline	Chr19:38516077	Conflicting classifications of pathogenicity	Central core myopathy Multiminicore myopathy Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber not specified RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073793	rs_774666035	4 SubmittersRCV000259435 RCV000317059 RCV000332119 RCV000370403 RCV000429807 RCV001459437
NM_000540.3(RYR1):c.9685+8G>T	SNV Germline	Chr19:38516225	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA074002	rs_752615788	2 SubmittersRCV000276175 RCV000297357 RCV000370708 RCV000404097 RCV001412533
NM_000540.3(RYR1):c.10260-12C>T	SNV Germline	Chr19:38523016	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA052848	rs_779541890	4 SubmittersRCV000283933 RCV000338947 RCV000342556 RCV000391248 RCV002057509
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=)	SNV Germline	Chr19:38523031	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA052950	rs_778171066	3 SubmittersRCV000299463 RCV000354208 RCV000391270 RCV000403332 RCV001491002
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)	SNV Germline	Chr19:38534752	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia of anesthesia RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Multiminicore myopathy Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA10648646	rs_886054401	3 SubmittersRCV000276753 RCV000315425 RCV001506741 RCV003995875 RCV000354968 RCV000366856
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=)	SNV Germline	Chr19:38548357	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA058467	rs_764395582	2 SubmittersRCV000270290 RCV000273946 RCV000315124 RCV000369757
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=)	SNV Germline	Chr19:38565222	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10648658	rs_571850239	2 SubmittersRCV000275321 RCV000295165 RCV000330216 RCV000389391 RCV000655680
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=)	SNV Germline	Chr19:38577941	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA060981	rs_201670423	4 SubmittersRCV000267872 RCV000303085 RCV000315974 RCV000360214 RCV000531112
NM_000540.3(RYR1):c.1441-12T>C	SNV Germline	Chr19:38455223	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651818	rs_760987340	2 SubmittersRCV000271566 RCV000306535 RCV000363816 RCV000391071 RCV002521217
NM_000540.3(RYR1):c.2545G>A (p.Asp849Asn)	SNV Germline	Chr19:38460559	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA063415	rs_200893443	7 SubmittersRCV000311307 RCV000336109 RCV000347451 RCV000400231 RCV000721456 RCV001085250
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=)	SNV Germline	Chr19:38463521	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber 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 SubmittersRCV000263941 RCV000304164 RCV000319110 RCV000358911 RCV000556795 RCV001718687
NM_000540.3(RYR1):c.2823G>A (p.Ala941=)	SNV Germline	Chr19:38464675	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064080	rs_750305530	4 SubmittersRCV000277066 RCV000332068 RCV000353812 RCV000368172 RCV001859940
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 Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064238	rs_775442275	4 SubmittersRCV000271380 RCV000326462 RCV000362410 RCV000366045 RCV000655722
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)	SNV Germline	Chr19:38466241	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy Malignant hyperthermia of anesthesia Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064318	rs_143891703	3 SubmittersRCV000267444 RCV000303829 RCV000358587 RCV000362093 RCV000841631 RCV001483259
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)	SNV Germline	Chr19:38466343	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651846	rs_569565316	3 SubmittersRCV000300767 RCV000304081 RCV000340438 RCV000398910 RCV001444339
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=)	SNV Germline	Chr19:38485680	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651848	rs_886054388	2 SubmittersRCV000272893 RCV000320685 RCV000326651 RCV000383683 RCV003757169
NM_000540.3(RYR1):c.5548-9G>T	SNV Germline	Chr19:38489168	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA067270	rs_776320867	3 SubmittersRCV000296508 RCV000325708 RCV000382455 RCV000388466 RCV002057506
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)	SNV Germline	Chr19:38500626	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Multiminicore myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA069555	rs_199813873	5 SubmittersRCV000262130 RCV000311415 RCV000368469 RCV000397588 RCV000872671 RCV003995869 RCV004584674
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=)	SNV Germline	Chr19:38500704	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber 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 SubmittersRCV000284595 RCV000327926 RCV000379912 RCV000384750 RCV003757171
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)	SNV Germline	Chr19:38500864	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069727	rs_375997435	5 SubmittersRCV000288054 RCV000296496 RCV000345553 RCV000390664 RCV001093149 RCV001207649
NM_000540.3(RYR1):c.7927-7C>T	SNV Germline	Chr19:38504213	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber not specified RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651865	rs_886054395	3 SubmittersRCV000302093 RCV000361454 RCV000405078 RCV000403061 RCV000714855 RCV002521222
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)	SNV Germline	Chr19:38504762	Conflicting classifications of pathogenicity	Multiminicore myopathy Central core myopathy Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA071465	rs_745619519	3 SubmittersRCV000285086 RCV000339139 RCV000344865 RCV000379609 RCV000655606 RCV003995870
NM_000540.3(RYR1):c.8310+10A>G	SNV Germline	Chr19:38505091	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA071767	rs_372730488	3 SubmittersRCV000263387 RCV000318492 RCV000353964 RCV000377912 RCV000558919
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=)	SNV Germline	Chr19:38517498	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA074199	rs_753425281	3 SubmittersRCV000314240 RCV000335224 RCV000350374 RCV000406845 RCV002521224
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)	SNV Germline	Chr19:38525334	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder not specified	Criteria Provided Conflicting Classifications	CA053762	rs_770132934	4 SubmittersRCV000271674 RCV000326697 RCV000366652 RCV000381288 RCV000866069 RCV003479099
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=)	SNV Germline	Chr19:38527763	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651880	rs_141542477	2 SubmittersRCV000263466 RCV000265489 RCV000320643 RCV000375297 RCV003765905
NM_000540.3(RYR1):c.10938-11C>T	SNV Germline	Chr19:38528588	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA055308	rs_760754746	3 SubmittersRCV000293881 RCV000346406 RCV000385840 RCV000407973 RCV003765906
NM_000540.3(RYR1):c.11193+15C>G	SNV Germline	Chr19:38532556	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber 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 SubmittersRCV000285706 RCV000343029 RCV000382513 RCV000391397 RCV002057510
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=)	SNV Germline	Chr19:38535166	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA056848	rs_757745087	4 SubmittersRCV000286552 RCV000320535 RCV000326225 RCV000378623 RCV001435330 RCV005411413
NM_000540.3(RYR1):c.11907+8G>A	SNV Germline	Chr19:38543668	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber 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 SubmittersRCV000302219 RCV000359696 RCV000360509 RCV000408133 RCV003757172
NM_000540.3(RYR1):c.12624+9A>G	SNV Germline	Chr19:38561463	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA059236	rs_548515798	2 SubmittersRCV000264567 RCV000309307 RCV000359406 RCV000392672 RCV001850760
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=)	SNV Germline	Chr19:38567809	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651894	rs_886054410	3 SubmittersRCV000299957 RCV000334873 RCV000357149 RCV000400738 RCV003591727
NM_000540.3(RYR1):c.14129+10C>A	SNV Germline	Chr19:38573317	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA060823	rs_546280470	2 SubmittersRCV000314047 RCV000349023 RCV000352552 RCV000399675 RCV000861778
NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)	SNV Germline	Chr19:38580460	Conflicting classifications of pathogenicity	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA061423	rs_187569997	4 SubmittersRCV000276585 RCV000334101 RCV000368870 RCV000381623 RCV003317192 RCV002521226
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)	SNV Germline	Chr19:38584966	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA061510	rs_773080803	6 SubmittersRCV000289632 RCV000328355 RCV000385235 RCV000868705 RCV000415618 RCV001718688
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)	SNV Germline	Chr19:38459334	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA063123	rs_369281291	8 SubmittersRCV000278670 RCV000293885 RCV000351092 RCV000389411 RCV000823531 RCV000996863 RCV002521218
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)	SNV Germline	Chr19:38464687	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA064089	rs_576990255	5 SubmittersRCV000273622 RCV000288806 RCV000328415 RCV000383044 RCV000868274 RCV004597780
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)	SNV Germline	Chr19:38464696	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064092	rs_761045773	4 SubmittersRCV000285525 RCV000325076 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 Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA065927	rs_200289457	10 SubmittersRCV000275614 RCV000312053 RCV000356178 RCV000371141 RCV000526894 RCV000513329 RCV002523063
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)	SNV Germline	Chr19:38496266	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA068464	rs_375640581	4 SubmittersRCV000283795 RCV000348050 RCV000397482 RCV000403740 RCV000721618 RCV001086765
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)	SNV Germline	Chr19:38499660	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy Central core myopathy RYR1-related disorder Malignant hyperthermia of anesthesia	Criteria Provided Conflicting Classifications	CA069079	rs_748167551	2 SubmittersRCV000282587 RCV000298057 RCV000405178 RCV000878714 RCV000337664
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)	SNV Germline	Chr19:38506851	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy not specified Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA072631	rs_368684717	6 SubmittersRCV000284518 RCV000341911 RCV000376679 RCV000391685 RCV000502645 RCV000721716 RCV001087983
NM_000540.3(RYR1):c.10938-12T>A	SNV Germline	Chr19:38528587	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA055312	rs_767711818	2 SubmittersRCV000295117 RCV000316290 RCV000352244 RCV000373214
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)	SNV Germline	Chr19:38546516	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10652422	rs_571477269	2 SubmittersRCV000287574 RCV000344848 RCV000384274 RCV000378552 RCV003757173
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)	SNV Germline	Chr19:38565684	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided not specified RYR1-related disorder	Criteria Provided Conflicting Classifications	CA059752	rs_748743312	6 SubmittersRCV000271016 RCV000302764 RCV000357600 RCV000363198 RCV000727521 RCV000501104 RCV001088212
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	SNV Germline	Chr19:38473726	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia not specified	Criteria Provided Conflicting Classifications	CA065572	rs_370966353	11 SubmittersRCV000415245 RCV000690328 RCV000487533 RCV001128278 RCV001128280 RCV001198358 RCV001128279 RCV003993948
NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter)	SNV Germline	Chr19:38505868	Pathogenic	Myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA16043556	rs_1057518773	5 SubmittersRCV000415002 RCV003995931 RCV001861443 RCV005018713
NM_000540.3(RYR1):c.3381+5G>A	SNV Germline	Chr19:38467817	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064755	rs_199691436	4 SubmittersRCV000422889 RCV004000367 RCV002226708 RCV005090748
NM_000540.3(RYR1):c.7835+1G>A	SNV Germline	Chr19:38502728	Likely pathogenic	Condition: not provided 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	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 Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA068423	rs_370994573	4 SubmittersRCV000655697 RCV001721301 RCV001127015 RCV001127017 RCV001127016
NM_000540.3(RYR1):c.11590+1G>T	SNV Germline	Chr19:38536071	Conflicting classifications of pathogenicity	Condition: not provided 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 Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16608213	rs_113928116	5 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031
NM_000540.3(RYR1):c.4620+13C>T	SNV Germline	Chr19:38478613	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA066238	rs_201971363	3 SubmittersRCV000423225 RCV001123858 RCV001123856 RCV001123857 RCV002062729
NM_000540.3(RYR1):c.6549-8G>A	SNV Germline	Chr19:38496207	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA068419	rs_756593088	6 SubmittersRCV000454540 RCV001127018 RCV001127441 RCV001127442 RCV001865413
NM_000540.3(RYR1):c.4160+1G>A	SNV Germline	Chr19:38473772	Conflicting classifications of pathogenicity	Hypotonia Condition: not provided King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405643333	rs_113460156	5 SubmittersRCV000490681 RCV004722827 RCV002489200 RCV003757181 RCV004806371
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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073816	rs_756331568	9 SubmittersRCV000504175 RCV000721749 RCV001221339 RCV001829435 RCV003992308 RCV004720267 RCV004003530
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)	SNV Germline	Chr19:38467683	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064615	rs_144164620	3 SubmittersRCV001125027 RCV001125025 RCV000512747 RCV001089334 RCV001125026
NM_000540.3(RYR1):c.9472+1G>A	SNV Germline	Chr19:38512484	Pathogenic	Condition: not provided Inborn genetic diseases RYR1-related disorder Congenital myopathy with fiber type disproportion 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	CA073621	rs_776697656	7 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622 RCV004737600
NM_000540.3(RYR1):c.14129+1G>A	SNV Germline	Chr19:38573308	Likely pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA060836	rs_142929172	4 SubmittersRCV000519097 RCV001851492 RCV002497013
NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)	SNV Germline	Chr19:38483429	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA066462	rs_776194441	5 SubmittersRCV000541033 RCV001546453 RCV004024433 RCV002476208
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn)	SNV Germline	Chr19:38500715	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Conflicting Classifications	CA069622	rs_141298868	6 SubmittersRCV000539694 RCV000721652 RCV005398873
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 Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA405692312	rs_1432807966	7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV003999490 RCV002497202
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)	SNV Germline	Chr19:38566950	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA059891	rs_149455643	6 SubmittersRCV000551114 RCV000764199 RCV000623122 RCV001797108 RCV004802183
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)	SNV Germline	Chr19:38573248	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA060795	rs_113058779	5 SubmittersRCV002497201 RCV000827374 RCV001078943 RCV003999489
NM_000540.3(RYR1):c.6274+1G>A	SNV Germline	Chr19:38492637	Conflicting classifications of pathogenicity	RYR1-related disorder Multiminicore myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405662693	rs_1226228092	8 SubmittersRCV000525713 RCV000853333 RCV000721603 RCV005018959 RCV004802184
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)	SNV Germline	Chr19:38485942	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome 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 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome	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	5 SubmittersRCV000721297 RCV001082883 RCV001131808 RCV001131809 RCV001131810
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=)	SNV Germline	Chr19:38584993	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	CA061519	rs_770698609	3 SubmittersRCV001134675 RCV001134676 RCV001134677 RCV000552120
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 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	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_000540.3(RYR1):c.11034+15G>A	SNV Germline	Chr19:38528710	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA055593	rs_552725260	3 SubmittersRCV000611618 RCV001135774 RCV001135776 RCV001135775 RCV002064178
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=)	SNV Germline	Chr19:38580396	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	CA061382	rs_763954439	5 SubmittersRCV000721379 RCV001081890 RCV001132277 RCV001132278 RCV001132279
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	Criteria Provided Conflicting Classifications	CA059313	rs_757157750	6 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758
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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA074223	rs_752199191	8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)	SNV Germline	Chr19:38460502	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Autosomal dominant centronuclear myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder not specified	Criteria Provided Conflicting Classifications	CA063319	rs_142548565	8 SubmittersRCV000721451 RCV005429031 RCV003147531 RCV000655535 RCV003235329
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)	SNV Germline	Chr19:38499954	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Condition: not provided Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA069413	rs_193922808	6 SubmittersRCV000655593 RCV001125554 RCV001125555 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 Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA064958	rs_769744438	7 SubmittersRCV000655600 RCV000721499 RCV004004155 RCV005019092 RCV004586854
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	SNV Germline	Chr19:38452824	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided See cases Malignant hyperthermia, susceptibility to, 1 Myopathy, RYR1-associated	Criteria Provided Conflicting Classifications	CA059053	rs_764262446	11 SubmittersRCV000655525 RCV002250674 RCV005019091 RCV001729679 RCV000658830 RCV003334390 RCV004004138 RCV004525996
NM_000540.3(RYR1):c.6664-2A>G	SNV Germline	Chr19:38496407	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405666150	rs_1346257891	5 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 Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy Condition: not provided Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA069011	rs_536596969	6 SubmittersRCV000655584 RCV000754734 RCV004004153 RCV004586853 RCV003238799 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 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA074235	rs_201276068	6 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131
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	5 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 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA059496	rs_755065800	4 SubmittersRCV000721295 RCV005392253 RCV001083692
NM_000540.3(RYR1):c.7836-1G>A	SNV Germline	Chr19:38502879	Likely pathogenic	Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA082842	rs_1568507354	3 SubmittersRCV000678325 RCV003591771 RCV002493120
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	SNV Germline	Chr19:38442391	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405674053	rs_1456276440	5 SubmittersRCV000680086 RCV001784304 RCV001861877 RCV002507180 RCV004004220
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)	SNV Germline	Chr19:38448649	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Condition: not provided	Criteria Provided Conflicting Classifications	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 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA507355614	rs_1357186643	2 SubmittersRCV000703165 RCV002499265
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe)	SNV Germline	Chr19:38452916	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Centronuclear myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA308120715	rs_911417327	4 SubmittersRCV000692043 RCV005392294 RCV004586880 RCV005001101
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 Inborn genetic diseases RYR1-related myopathy	Criteria Provided Conflicting Classifications	CA052986	rs_150977342	7 SubmittersRCV000699049 RCV001331318 RCV003130009 RCV004026463 RCV004788135
NM_000540.3(RYR1):c.14869-5C>G	SNV Germline	Chr19:38586086	Conflicting classifications of pathogenicity	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	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 Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome	Criteria Provided Conflicting Classifications	CA063399	rs_146754847	6 SubmittersRCV000693319 RCV000721454 RCV003999596 RCV002477569
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	SNV Germline	Chr19:38477860	Conflicting classifications of pathogenicity	RYR1-related disorder Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 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	Criteria Provided Conflicting Classifications	CA066054	rs_747718728	7 SubmittersRCV000693287 RCV002531464 RCV003999595 RCV002477568 RCV003130003
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 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA308119861	rs_777016690	5 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.5314A>G (p.Arg1772Gly)	SNV Germline	Chr19:38485969	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	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	7 SubmittersRCV000721617 RCV000800253 RCV004802407 RCV005253091
NM_000540.3(RYR1):c.9001-15C>A	SNV Germline	Chr19:38510645	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073057	rs_372702492	4 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 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Centronuclear myopathy	Criteria Provided Conflicting Classifications	CA074292	rs_544339193	5 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)	SNV Germline	Chr19:38565514	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA059617	rs_748844266	7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924 RCV004702371
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 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405684067	rs_1189024951	6 SubmittersRCV000721355 RCV000814221 RCV003999821 RCV005004386
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 Central core myopathy King Denborough syndrome	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	Likely pathogenic	Central core myopathy	No Assertion Criteria Provided	CA405690443	rs_978984063	1 SubmittersRCV000786072
NM_000540.3(RYR1):c.14411A>G (p.His4804Arg)	SNV Germline	Chr19:38580028	Likely pathogenic	Central core myopathy	No Assertion Criteria Provided	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 Centronuclear myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405650606	rs_1332371891	4 SubmittersRCV000754733 RCV002536549 RCV004586913 RCV005021145
NM_000540.3(RYR1):c.838C>T (p.Arg280Ter)	SNV Germline	Chr19:38448392	Pathogenic	Central core myopathy RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA405681155	rs_1278804520	3 SubmittersRCV000760976 RCV003757205
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	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	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 Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA062717	rs_202105428	5 SubmittersRCV000805637 RCV001125553 RCV001125551 RCV001125552 RCV001310399
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	SNV Germline	Chr19:38466204	Pathogenic/Likely pathogenic	RYR1-related disorder Condition: not provided Central core myopathy King Denborough syndrome Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405634883	rs_1440262870	5 SubmittersRCV000811818 RCV003141824 RCV002495127 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 not specified Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068263	rs_776830747	7 SubmittersRCV000813191 RCV001729710 RCV003132080 RCV005056593 RCV004001749
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)	SNV Germline	Chr19:38584963	Pathogenic	Central core myopathy RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA405690192	rs_193922887	2 SubmittersRCV000853348 RCV000801582
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)	SNV Germline	Chr19:38459268	Pathogenic/Likely pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA063087	rs_371455345	2 SubmittersRCV001383922 RCV000825544
NM_000540.3(RYR1):c.46-4G>A	SNV Germline	Chr19:38440741	Conflicting classifications of pathogenicity	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 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA066333	rs_201094741	4 SubmittersRCV000867181 RCV002487901 RCV004002997
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=)	SNV Germline	Chr19:38473667	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	CA308079786	rs_915321867	3 SubmittersRCV001126225 RCV001126226 RCV001126227 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 Congenital myopathy with fiber type disproportion 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	CA068570	rs_766836202	5 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	SNV Germline	Chr19:38458169	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA062775	rs_776252106	6 SubmittersRCV001862742 RCV002479200 RCV001004922 RCV004004475 RCV002305557
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	SNV Germline	Chr19:38458108	Pathogenic/Likely pathogenic	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA405695616	rs_1305971341	5 SubmittersRCV001058792 RCV002505620 RCV001784614 RCV004000105
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 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064173	rs_143179371	5 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 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA069098	rs_144526634	4 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 King Denborough syndrome Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073657	rs_770942162	3 SubmittersRCV001057839 RCV002482022 RCV004000093
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	SNV Germline	Chr19:38580091	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided 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 Central core myopathy	Criteria Provided Conflicting Classifications	CA061315	rs_193922875	5 SubmittersRCV001040954 RCV003130110 RCV002481884 RCV004819235
NM_000540.3(RYR1):c.10824+8G>A	SNV Germline	Chr19:38527792	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome 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	9 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 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA052265	rs_538500669	5 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV005409773 RCV004000222
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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073142	rs_144067910	3 SubmittersRCV001125256 RCV001125257 RCV001126230 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	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA074094	rs_764290955	2 SubmittersRCV001128467 RCV001128468 RCV001128469 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	Criteria Provided Conflicting Classifications	CA074275	rs_776468955	2 SubmittersRCV001123860 RCV001123859 RCV001126499 RCV002070021
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.9555-14G>A	SNV Germline	Chr19:38516073	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder not specified	Criteria Provided Conflicting Classifications	CA073800	rs_763353979	4 SubmittersRCV001126334 RCV001128376 RCV001128377 RCV002070065 RCV003490081
NM_000540.3(RYR1):c.9555-4C>T	SNV Germline	Chr19:38516083	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	CA632876987	rs_1417337927	2 SubmittersRCV001122654 RCV001122656 RCV001122655 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	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA057532	rs_776123178	3 SubmittersRCV001128886 RCV001128887 RCV001131555 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 Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia 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	Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA082877	rs_1365856881	7 SubmittersRCV005005088 RCV001780144 RCV004803576 RCV003156321 RCV001219907
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	Condition: not provided RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA308134023	rs_199895006	3 SubmittersRCV001780158 RCV001227328 RCV003989647
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 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA308123278	rs_927675372	4 SubmittersRCV001334520 RCV002476551 RCV001865812 RCV004005143
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	SNV Germline	Chr19:38458238	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Congenital myopathy with fiber type disproportion 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	CA062851	rs_565825739	7 SubmittersRCV001334521 RCV001702096 RCV003591856 RCV002499657 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	Criteria Provided Conflicting Classifications	CA069809	rs_575446156	5 SubmittersRCV001363484 RCV001773721 RCV002291505 RCV004656561
NM_000540.3(RYR1):c.10347C>T (p.His3449=)	SNV Germline	Chr19:38523115	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital myopathy with fiber type disproportion Central core myopathy	Criteria Provided Conflicting Classifications	CA053217	rs_373702420	3 SubmittersRCV001370548 RCV004006823 RCV002504621
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	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 Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405685479	rs_1974046221	4 SubmittersRCV001531894 RCV003757223 RCV004017845 RCV004804225
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	Reviewed By Expert Panel	CA308123345	rs_113812662	2 SubmittersRCV001580389 RCV005409829
NM_000540.3(RYR1):c.8310+1G>T	SNV Germline	Chr19:38505082	Pathogenic	Condition: not provided Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 RYR1-related myopathy	Reviewed By Expert Panel	CA405677313	rs_1970380121	5 SubmittersRCV001663366 RCV001775179 RCV003757225 RCV004008957 RCV004738355
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	Likely pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts	CA405692175	rs_2145917373	2 SubmittersRCV002034691 RCV001829287
NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)	SNV Germline	Chr19:38496923	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy 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	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 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 Conflicting Classifications	CA405683232	rs_1457662393	4 SubmittersRCV001941795 RCV003325593 RCV004010985 RCV002497871
NM_000540.3(RYR1):c.947G>A (p.Arg316His)	SNV Germline	Chr19:38448501	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA073714	rs_193922761	5 SubmittersRCV001962291 RCV004009225 RCV005253914 RCV002490033 RCV005409051
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)	SNV Germline	Chr19:38446710	Conflicting classifications of pathogenicity	RYR1-related disorder not specified Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Conflicting Classifications	CA069619	rs_1801086	4 SubmittersRCV002008037 RCV004699607 RCV004011032 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	Central core myopathy RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA405683370	rs_1381679767	2 SubmittersRCV003340598 RCV003064582
NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)	SNV Germline	Chr19:38460463	Pathogenic/Likely pathogenic	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	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_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	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA405690254	rs_118192151	2 SubmittersRCV005030121 RCV003591149
NM_000540.3(RYR1):c.11608+1G>A	SNV Germline	Chr19:38536768	Likely pathogenic	RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	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 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	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 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	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	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy 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.1840C>T (p.Arg614Cys)

SNV
Germline

Chr19:38457545

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024311

rs_118192172

30 SubmittersRCV000119586 RCV000608635 RCV000538121 RCV000624176 RCV001787388 RCV000013830 RCV001787389 RCV001787394 RCV002496349 RCV001787390 RCV001787391 RCV001787392 RCV001787393

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
desflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024750

rs_28933396

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

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
desflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA018598

rs_118192161

12 SubmittersRCV000013833 RCV000013834 RCV000119625 RCV000806352 RCV001787402 RCV001787707 RCV001787709 RCV001787706 RCV001787708 RCV001787710 RCV001787711 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
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
isoflurane response - Toxicity
sevoflurane response - Toxicity
Central core myopathy
Inborn genetic diseases
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Reviewed By Expert Panel

CA024747

rs_121918593

32 SubmittersRCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787719 RCV001787720 RCV001787721 RCV001787723 RCV001787725 RCV001787722 RCV001787724 RCV002288488 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
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
methoxyflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
enflurane response - Toxicity
halothane response - Toxicity
isoflurane response - Toxicity

Reviewed By Expert Panel

CA024784

rs_28933397

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

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
enflurane response - Toxicity
isoflurane response - Toxicity
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity

Reviewed By Expert Panel

CA024590

rs_118192175

11 SubmittersRCV000013840 RCV000056223 RCV000119653 RCV001385701 RCV001787741 RCV001787743 RCV001787744 RCV001787745 RCV001787746 RCV001787740 RCV001787742

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
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
RYR1-related disorder
enflurane response - Toxicity
isoflurane response - Toxicity

Reviewed By Expert Panel

CA024593

rs_118192163

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

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

SNV
Germline

Chr19:38494579

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024603

rs_118192176

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

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

SNV
Germline

Chr19:38496283

Pathogenic

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

Reviewed By Expert Panel

CA024622

rs_118192177

24 SubmittersRCV000013846 RCV000119662 RCV000162149 RCV000606881 RCV000655558 RCV001729348 RCV004658961 RCV004556715 RCV005016260 RCV005624685

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

SNV
Germline

Chr19:38580440

Conflicting classifications of pathogenicity; drug response

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

Reviewed By Expert Panel

CA024187

rs_63749869

15 SubmittersRCV000013852 RCV000534187 RCV000119533 RCV001787783 RCV000851296 RCV001787782 RCV001787784 RCV001787785 RCV001787786 RCV001787787 RCV001787788 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
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Centronuclear myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

17 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV003996093 RCV003447473 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
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease
Central core myopathy

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

11 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
RYR1-related disorder
Malignant hyperthermia of anesthesia

Criteria Provided
Multiple Submitters
No Conflicts

CA024078

rs_118192166

6 SubmittersRCV000013864 RCV000119487 RCV001851836 RCV001824568

NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)

SNV
Germline

Chr19:38512253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024970

rs_147012990

8 SubmittersRCV000210003 RCV000253393 RCV000300656 RCV000357829 RCV000404978 RCV000721732 RCV001086670

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

SNV
Germline

Chr19:38519399

Pathogenic

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

Reviewed By Expert Panel

CA023822

rs_367543058

14 SubmittersRCV000034925 RCV000233916 RCV000147397 RCV000401146 RCV000529599 RCV004786294 RCV003996181 RCV005252703 RCV005394216

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

SNV
Germline

Chr19:38451846

Likely pathogenic

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

Criteria Provided
Single Submitter

CA023960

rs_118192117

3 SubmittersRCV000056214 RCV000034926 RCV000119451 RCV005089338

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

SNV
Germline

Chr19:38523211

Pathogenic

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

Reviewed By Expert Panel

CA023836

rs_193922837

18 SubmittersRCV000535801 RCV000119410 RCV005359124 RCV001775081 RCV000624604 RCV001249074 RCV005003479 RCV003997313 RCV004586556 RCV004689614 RCV005430496

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA024167

rs_118192143

5 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

Condition: not provided
Central core myopathy
RYR1-related disorder

Criteria Provided
Single Submitter

CA024237

rs_118192183

3 SubmittersRCV000119554 RCV000056195 RCV001382210

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

SNV
Germline

Chr19:38572224

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

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
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Reviewed By Expert Panel

CA024775

rs_118192123

5 SubmittersRCV000056200 RCV000119708 RCV001588885 RCV001383435

NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)

SNV
Germline

Chr19:38519295

Conflicting classifications of pathogenicity

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

Reviewed By Expert Panel

CA023815

rs_118192126

4 SubmittersRCV000056203 RCV000119402 RCV001449987 RCV005252722

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

Condition: not provided
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024069

rs_118192131

4 SubmittersRCV000119484 RCV000056206 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
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
desflurane response - Toxicity
halothane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity
RYR1-related myopathy

Reviewed By Expert Panel

CA024770

rs_118192124

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

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

SNV
Germline

Chr19:38500643

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024781

rs_118192122

17 SubmittersRCV000056227 RCV000119710 RCV001787854 RCV001787855 RCV001787857 RCV000709760 RCV000699835 RCV001787856 RCV001787858 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
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Abnormality of the musculature
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome

Reviewed By Expert Panel

CA024819

rs_118192178

13 SubmittersRCV000056228 RCV000119718 RCV001198416 RCV000552166 RCV001814037 RCV000624571 RCV002281900 RCV001731347

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

SNV
Germline

Chr19:38506952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024952

rs_118192125

4 SubmittersRCV000119763 RCV000056229 RCV001383436 RCV003996487

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

SNV
Germline

Chr19:38580090

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024150

rs_118192180

6 SubmittersRCV000056232 RCV000119518 RCV003996488 RCV001854163 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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA024220

rs_118192150

9 SubmittersRCV000119545 RCV000056236 RCV001046476 RCV003996489 RCV002496742

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
RYR1-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA024080

rs_118192134

4 SubmittersRCV000056242 RCV000536286 RCV000119488

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.10119G>A (p.Val3373=)

SNV
Germline

Chr19:38519314

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023817

rs_140689610

12 SubmittersRCV000308726 RCV000344949 RCV000407628 RCV000250990 RCV000348497 RCV001080062 RCV000721187

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

SNV
Germline

Chr19:38565213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024015

rs_193922854

13 SubmittersRCV000079126 RCV000260031 RCV000355907 RCV000415696 RCV000252273 RCV000354942 RCV001083097 RCV002051651

NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)

SNV
Germline

Chr19:38580122

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024159

rs_118126378

15 SubmittersRCV000079132 RCV000304667 RCV000390273 RCV000259804 RCV000361747 RCV001082862 RCV000721374

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

Criteria Provided
Conflicting Classifications

CA024280

rs_398123471

7 SubmittersRCV000079134 RCV000801203 RCV004700390 RCV005250014 RCV004795343 RCV005025133

NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)

SNV
Germline

Chr19:38489266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024532

rs_143418190

6 SubmittersRCV000079153 RCV000405493 RCV000286979 RCV000280975 RCV000335107 RCV001088721

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

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024569

rs_398123473

5 SubmittersRCV000079157 RCV002490686 RCV002515759 RCV003997199

NM_000540.3(RYR1):c.6645C>T (p.Leu2215=)

SNV
Germline

Chr19:38496311

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024637

rs_146617004

7 SubmittersRCV000314006 RCV000397477 RCV000308423 RCV000363070 RCV000723593 RCV001087587

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

SNV
Germline

Chr19:38502629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024844

rs_114975624

8 SubmittersRCV000147443 RCV000079168 RCV000307589 RCV000329613 RCV000276971 RCV000369238 RCV001079993

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

SNV
Germline

Chr16:3249032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280388

rs_104895140

6 SubmittersRCV000083690 RCV001711585 RCV001258254 RCV003126424 RCV003126423

NM_000540.3(RYR1):c.1123-11C>T

SNV
Germline

Chr19:38451753

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023902

rs_3745845

8 SubmittersRCV000119430 RCV000280393 RCV000295802 RCV000398335 RCV000243592 RCV000334467 RCV002055317

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

SNV
Germline

Chr19:38534775

Likely pathogenic

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

Reviewed By Expert Panel

CA023909

rs_193922839

14 SubmittersRCV000119432 RCV000610269 RCV000415300 RCV001244597 RCV003258668 RCV002281938 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
Central core myopathy
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia of anesthesia

Reviewed By Expert Panel

CA023926

rs_148399313

8 SubmittersRCV000119437 RCV001389265 RCV001580388 RCV004796024 RCV004017404

NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)

SNV
Germline

Chr19:38543551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023938

rs_147136339

23 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV002251988 RCV003398723 RCV003993810 RCV005016406

NM_000540.3(RYR1):c.1218C>T (p.Thr406=)

SNV
Germline

Chr19:38451859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023973

rs_3745846

5 SubmittersRCV000119456 RCV000303170 RCV000337884 RCV000360290 RCV001087365 RCV000391072

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

SNV
Germline

Chr19:38440829

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024034

rs_193922748

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

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

Reviewed By Expert Panel

CA024118

rs_193922868

12 SubmittersRCV000119503 RCV001380753 RCV003231155 RCV002498548

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

SNV
Germline

Chr19:38580503

Pathogenic/Likely pathogenic

Condition: not provided
RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA024204

rs_193922884

6 SubmittersRCV000119538 RCV000695746 RCV002288602

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

SNV
Germline

Chr19:38586140

Likely pathogenic

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

Reviewed By Expert Panel

CA024276

rs_146876145

24 SubmittersRCV000148804 RCV000119571 RCV000554319 RCV000605381 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
Malignant hyperthermia of anesthesia
King Denborough syndrome
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Inborn genetic diseases

Reviewed By Expert Panel

CA024291

rs_111888148

22 SubmittersRCV000119576 RCV000148805 RCV000655554 RCV001449797 RCV001249073 RCV005016407 RCV004658970

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

SNV
Germline

Chr19:38455471

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024293

rs_193922768

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

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
Malignant hyperthermia, susceptibility to, 1
sevoflurane response - Toxicity
succinylcholine response - Toxicity
Central core myopathy
enflurane response - Toxicity
isoflurane response - Toxicity

Reviewed By Expert Panel

CA024299

rs_193922770

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

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
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
methoxyflurane response - Toxicity
sevoflurane response - Toxicity
succinylcholine response - Toxicity

Reviewed By Expert Panel

CA024313

rs_193922772

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

NM_000540.3(RYR1):c.2121C>A (p.Gly707=)

SNV
Germline

Chr19:38458246

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024329

rs_146104858

13 SubmittersRCV000119590 RCV000252771 RCV000383723 RCV000291947 RCV000345447 RCV000288116 RCV001085961

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

SNV
Germline

Chr19:38485838

Likely pathogenic

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

Reviewed By Expert Panel

CA024494

rs_193922781

16 SubmittersRCV000119633 RCV000148807 RCV001449805 RCV001265978 RCV001057054 RCV002505055

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

Reviewed By Expert Panel

CA024651

rs_193922797

19 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV003323407 RCV005003481 RCV005268555

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

SNV
Germline

Chr19:38499223

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024662

rs_112563513

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

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

SNV
Germline

Chr19:38499670

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024693

rs_193922803

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

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

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024738

rs_193922809

17 SubmittersRCV000119695 RCV001127649 RCV001788011 RCV001788012 RCV001788013 RCV001127651 RCV002492410 RCV001127650 RCV004019662 RCV004556734 RCV001236218 RCV001788008 RCV001788010 RCV001788007 RCV001788009

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

SNV
Germline

Chr19:38499984

Likely pathogenic

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

Reviewed By Expert Panel

CA024741

rs_193922810

10 SubmittersRCV000119696 RCV000148824 RCV004525874 RCV005025190 RCV001854585

NM_000540.3(RYR1):c.2091C>T (p.Ala697=)

SNV
Germline

Chr19:38458216

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024325

rs_138704724

13 SubmittersRCV000147417 RCV000285029 RCV000247824 RCV000380122 RCV000377071 RCV000323206 RCV001085166

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

Criteria Provided
Conflicting Classifications

CA024401

rs_559581937

7 SubmittersRCV000147421 RCV001237337 RCV003338423 RCV005016466 RCV005411352

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

SNV
Germline

Chr19:38475382

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA024435

rs_587784376

5 SubmittersRCV000147427 RCV001057643 RCV003998164 RCV005431490 RCV005016467

NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)

SNV
Germline

Chr19:38483476

Conflicting classifications of pathogenicity

not specified
Multiminicore myopathy
Central core myopathy
Malignant hypothermia
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024469

rs_76537615

10 SubmittersRCV000147430 RCV000282746 RCV000298179 RCV000239106 RCV000342522 RCV000394130 RCV001288364 RCV000553661 RCV005401336

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

SNV
Germline

Chr19:38496466

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

26 SubmittersRCV000148787 RCV000147436 RCV000171129 RCV000178453 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
Central core myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA024994

rs_587784379

7 SubmittersRCV000147451 RCV000855485 RCV001004921 RCV001036190 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
Inborn genetic diseases
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

18 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546 RCV005252771

NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)

SNV
Germline

Chr19:38517386

Conflicting classifications of pathogenicity

Axial myopathy, late-onset
not specified
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024999

rs_200950673

9 SubmittersRCV000148800 RCV000281816 RCV000378617 RCV000287628 RCV000323995 RCV000990203 RCV000382036 RCV000725266 RCV001084344

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

SNV
Germline

Chr19:38543420

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023934

rs_377178986

11 SubmittersRCV000148788 RCV000704053 RCV000990206 RCV000721251 RCV001266922 RCV002478416 RCV001795258 RCV004786401

NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)

SNV
Germline

Chr19:38483460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024464

rs_369466056

5 SubmittersRCV000254093 RCV000288457 RCV000348149 RCV000394118 RCV000721563 RCV000382933 RCV001085788

NM_000540.3(RYR1):c.12283-7C>T

SNV
Germline

Chr19:38561106

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023977

rs_143861818

11 SubmittersRCV000153872 RCV000321998 RCV000271306 RCV000325376 RCV000384640 RCV000513533 RCV001081922 RCV005621890

NM_000540.3(RYR1):c.2319C>T (p.Asp773=)

SNV
Germline

Chr19:38459297

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024345

rs_374924686

7 SubmittersRCV000328927 RCV000385851 RCV000382164 RCV001080983 RCV000271334 RCV000721447

NM_000540.3(RYR1):c.271-7C>G

SNV
Germline

Chr19:38443551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024366

rs_192495718

9 SubmittersRCV000269477 RCV000273582 RCV000241987 RCV000368221 RCV000329250 RCV000513860 RCV001257051

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
Neuromuscular disease, congenital, with uniform type 1 fiber
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024874

rs_142558977

8 SubmittersRCV000245786 RCV000282044 RCV000335516 RCV000337138 RCV000408287 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
Central core myopathy
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
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

CA024923

rs_144777676

8 SubmittersRCV000179139 RCV000526318 RCV000680153 RCV000765450 RCV001122357 RCV001122358

NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys)

SNV
Germline

Chr19:38512366

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024978

rs_61739911

6 SubmittersRCV000280267 RCV000283860 RCV000337639 RCV000407782 RCV001081180 RCV000721737

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

SNV
Germline

Chr19:38543564

Conflicting classifications of pathogenicity

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
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

5 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
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
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
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

5 SubmittersRCV000180735 RCV000543194 RCV002503701

NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln)

SNV
Germline

Chr19:38565290

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024020

rs_539194350

6 SubmittersRCV000180737 RCV000286783 RCV000376367 RCV000341804 RCV000400216 RCV000721299 RCV001085625

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.9262G>A (p.Val3088Met)

SNV
Germline

Chr19:38512273

Conflicting classifications of pathogenicity

Malignant hypothermia
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia of anesthesia
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Long QT syndrome

Criteria Provided
Conflicting Classifications

CA024973

rs_145044872

11 SubmittersRCV000203140 RCV000272384 RCV000329734 RCV000326085 RCV000383042 RCV000721734 RCV001084220 RCV002225092 RCV003318366

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

SNV
Germline

Chr19:38546515

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023962

rs_794728696

12 SubmittersRCV000210653 RCV000721259 RCV000542897 RCV002288788 RCV003114333 RCV003147380 RCV004795344

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

SNV
Germline

Chr19:38578138

Conflicting classifications of pathogenicity

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
King Denborough syndrome

Criteria Provided
Conflicting Classifications

CA024125

rs_794728693

3 SubmittersRCV000182600 RCV000702407 RCV002485210

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

8 SubmittersRCV000210545 RCV000721408 RCV000793270 RCV001449967 RCV002051687 RCV004556761 RCV004804789

NM_000540.3(RYR1):c.12588C>T (p.Ile4196=)

SNV
Germline

Chr19:38561418

Conflicting classifications of pathogenicity

not specified
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA059141

rs_61739895

7 SubmittersRCV000193583 RCV000278057 RCV000293474 RCV000337896 RCV000402166 RCV000557907 RCV003996905

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

SNV
Germline

Chr19:38580504

Conflicting classifications of pathogenicity

not specified
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
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

5 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907

NM_000540.3(RYR1):c.725+6G>A

SNV
Germline

Chr19:38446571

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Malignant hypothermia
Condition: not provided
not specified
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA069403

rs_201679831

10 SubmittersRCV000286450 RCV000343659 RCV000378557 RCV000381967 RCV000202682 RCV000721647 RCV000252878 RCV001082010

NM_000540.3(RYR1):c.89A>T (p.Glu30Val)

SNV
Germline

Chr19:38440788

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073030

rs_145771708

7 SubmittersRCV000209972 RCV000399849 RCV000351450 RCV000296805 RCV000721723 RCV001086341

NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)

SNV
Germline

Chr19:38464674

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064079

rs_748568687

9 SubmittersRCV000210634 RCV000298912 RCV000538947 RCV000357405 RCV000210019 RCV000302588 RCV003137802 RCV003488465

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

SNV
Germline

Chr19:38502946

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071016

rs_148041292

10 SubmittersRCV000209968 RCV000678749 RCV000800203 RCV000765449 RCV001356636 RCV005625449

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

SNV
Germline

Chr19:38536758

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA057247

rs_138593495

6 SubmittersRCV000210015 RCV000547789 RCV000521020 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

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16616833

rs_878854365

5 SubmittersRCV000550931 RCV001782728 RCV005003587

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

SNV
Germline

Chr19:38523116

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA053108

rs_111436401

9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320 RCV005025343

NM_000540.3(RYR1):c.255G>T (p.Val85=)

SNV
Germline

Chr19:38442438

Conflicting classifications of pathogenicity

not specified
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA063447

rs_532101469

5 SubmittersRCV000252952 RCV000304675 RCV000363985 RCV000358107 RCV000655678 RCV000404669

NM_000540.3(RYR1):c.2682+7G>A

SNV
Germline

Chr19:38463534

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA063753

rs_201498416

6 SubmittersRCV000242463 RCV000294208 RCV000330535 RCV000385226 RCV000721471 RCV000290802 RCV001079133

NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)

SNV
Germline

Chr19:38466331

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064432

rs_145434723

7 SubmittersRCV000249519 RCV000288869 RCV000343812 RCV000721487 RCV001084156 RCV000383257 RCV000399586

NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)

SNV
Germline

Chr19:38467812

Conflicting classifications of pathogenicity

not specified
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
RYR1-related disorder
Central core myopathy
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA064758

rs_200780880

7 SubmittersRCV000250679 RCV000340280 RCV000397188 RCV000282896 RCV000559351 RCV000379896 RCV000721491 RCV003514334

NM_000540.3(RYR1):c.3420C>T (p.Arg1140=)

SNV
Germline

Chr19:38469004

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064829

rs_201599911

5 SubmittersRCV000246040 RCV000370410 RCV000309450 RCV000366574 RCV000721495 RCV000406827 RCV001086127

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

4 SubmittersRCV000245577 RCV001128373 RCV001128374 RCV001128375 RCV002057380

NM_000540.3(RYR1):c.4294-4C>T

SNV
Germline

Chr19:38477706

Conflicting classifications of pathogenicity

not specified
Multiminicore myopathy
Central core myopathy
RYR1-related disorder
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA065904

rs_368108496

6 SubmittersRCV000250307 RCV000336036 RCV000399614 RCV001083634 RCV000301431 RCV000304590 RCV000513035 RCV003514335

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

4 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
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA066336

rs_200600174

5 SubmittersRCV000243315 RCV000292256 RCV000386558 RCV000395496 RCV000351827 RCV001487929

NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)

SNV
Germline

Chr19:38485626

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066559

rs_141107290

7 SubmittersRCV000398418 RCV000301244 RCV000353072 RCV000721570 RCV001082011 RCV000367615

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

Criteria Provided
Conflicting Classifications

CA068977

rs_202061237

6 SubmittersRCV000249710 RCV000691898 RCV000721630 RCV001125453 RCV001127566 RCV001127567

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

SNV
Germline

Chr19:38502920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA070955

rs_145446438

6 SubmittersRCV000249188 RCV000721679 RCV001125805 RCV001125807 RCV001125806 RCV001083040

NM_000540.3(RYR1):c.9555-9G>A

SNV
Germline

Chr19:38516078

Conflicting classifications of pathogenicity

not specified
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Congenital multicore myopathy with external ophthalmoplegia
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
See cases

Criteria Provided
Conflicting Classifications

CA073808

rs_149569999

12 SubmittersRCV000243094 RCV000281800 RCV000373758 RCV000377361 RCV000721747 RCV000320420 RCV001085580 RCV002252065

NM_000540.3(RYR1):c.10578G>A (p.Ala3526=)

SNV
Germline

Chr19:38525454

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA054019

rs_368360689

6 SubmittersRCV000287336 RCV000248525 RCV000378251 RCV000283830 RCV000323697 RCV000721204 RCV001079516

NM_000540.3(RYR1):c.10938-9C>T

SNV
Germline

Chr19:38528590

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA055430

rs_201976186

8 SubmittersRCV000305186 RCV000345117 RCV000247423 RCV000306574 RCV000407981 RCV000721217 RCV001079163

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

SNV
Germline

Chr19:38534707

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA056599

rs_540088883

4 SubmittersRCV000243303 RCV001131437 RCV001131439 RCV001131438 RCV002057370

NM_000540.3(RYR1):c.11439+9G>A

SNV
Germline

Chr19:38535229

Conflicting classifications of pathogenicity

not specified
Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA056930

rs_369650355

5 SubmittersRCV000246426 RCV000279931 RCV000312561 RCV000351142 RCV000392603 RCV001087535

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

SNV
Germline

Chr19:38586570

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA061956

rs_2229149

6 SubmittersRCV000241903 RCV000277489 RCV000308165 RCV000332546 RCV000362889 RCV001080361 RCV004721322

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

SNV
Germline

Chr19:38580033

Conflicting classifications of pathogenicity

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
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

CA054285

rs_536304635

13 SubmittersRCV000280179 RCV000398390 RCV000335257 RCV000338681 RCV000656969 RCV001266921 RCV001731554 RCV000818112 RCV005016666

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

SNV
Germline

Chr19:38570637

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060399

rs_753208767

8 SubmittersRCV000623983 RCV000721328 RCV000533233 RCV003338497 RCV003995761

NM_000540.3(RYR1):c.6654C>T (p.Gly2218=)

SNV
Germline

Chr19:38496320

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068516

rs_149185729

8 SubmittersRCV000261115 RCV000264217 RCV000284219 RCV000316380 RCV000378714 RCV000721620 RCV001078963

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

8 SubmittersRCV000725566 RCV001042937 RCV002519169 RCV003995775 RCV005355592

NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu)

SNV
Germline

Chr19:38565703

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia of anesthesia
Central core myopathy
Multiminicore myopathy
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10605744

rs_867851900

5 SubmittersRCV000296266 RCV000344212 RCV000400884 RCV000388448 RCV000549654 RCV000721315

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

SNV
Germline

Chr19:38485635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066575

rs_374115286

6 SubmittersRCV000721571 RCV001081976 RCV001123941 RCV001123943 RCV001123942 RCV005055836

NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)

SNV
Germline

Chr19:38473649

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065501

rs_777049924

9 SubmittersRCV000273611 RCV000331017 RCV000313458 RCV000370505 RCV000655552 RCV000657029 RCV005407025

NM_000540.3(RYR1):c.537+12C>A

SNV
Germline

Chr19:38444273

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA066961

rs_779869638

2 SubmittersRCV000279319 RCV000315736 RCV000333314 RCV000387776 RCV002057504

NM_000540.3(RYR1):c.3420C>G (p.Arg1140=)

SNV
Germline

Chr19:38469004

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064824

rs_201599911

6 SubmittersRCV000281594 RCV000313376 RCV000334540 RCV000721494 RCV000401348 RCV001079903 RCV000439132

NM_000540.3(RYR1):c.3555C>T (p.Asp1185=)

SNV
Germline

Chr19:38469139

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064990

rs_377282283

4 SubmittersRCV000281517 RCV000320067 RCV000320847 RCV000378330 RCV001298574 RCV001552285 RCV005418083

NM_000540.3(RYR1):c.4257C>T (p.Asn1419=)

SNV
Germline

Chr19:38475414

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA065784

rs_36042816

2 SubmittersRCV000266792 RCV000317226 RCV000353026 RCV000361284 RCV000873466

NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met)

SNV
Germline

Chr19:38475449

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065830

rs_191656849

4 SubmittersRCV000284701 RCV000339681 RCV000383916 RCV000393166 RCV000721532 RCV001217688

NM_000540.3(RYR1):c.4339G>A (p.Val1447Met)

SNV
Germline

Chr19:38477755

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065960

rs_370851779

5 SubmittersRCV000272279 RCV000276785 RCV000327130 RCV000381702 RCV003129833 RCV003114490

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
not specified
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA066143

rs_767928113

4 SubmittersRCV000364887 RCV000369799 RCV004782358 RCV001224473

NM_000540.3(RYR1):c.5321C>T (p.Pro1774Leu)

SNV
Germline

Chr19:38485976

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066879

rs_199837883

4 SubmittersRCV000265956 RCV000270216 RCV000308884 RCV000365875 RCV000868676 RCV003221924

NM_000540.3(RYR1):c.5385G>C (p.Pro1795=)

SNV
Germline

Chr19:38486040

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA067063

rs_772422894

2 SubmittersRCV000295445 RCV000308529 RCV000352631 RCV000395346 RCV000903221

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

SNV
Germline

Chr19:38490628

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
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

6 SubmittersRCV000272082 RCV000307113 RCV000364152 RCV000397620 RCV000512722 RCV000535360

NM_000540.3(RYR1):c.6078G>A (p.Glu2026=)

SNV
Germline

Chr19:38490683

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA067726

rs_201310026

3 SubmittersRCV000267358 RCV000322444 RCV000371454 RCV000377017 RCV000547971

NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)

SNV
Germline

Chr19:38494395

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Multiminicore myopathy
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA068067

rs_769443054

3 SubmittersRCV000292503 RCV000296149 RCV000351067 RCV000386877 RCV000655691 RCV004804985

NM_000540.3(RYR1):c.6407G>A (p.Arg2136His)

SNV
Germline

Chr19:38494484

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068218

rs_530885842

4 SubmittersRCV000275501 RCV000281444 RCV000330565 RCV000375920 RCV001368607 RCV001795948

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

SNV
Germline

Chr19:38499624

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA069019

rs_369342449

2 SubmittersRCV000295398 RCV000350300 RCV000389566 RCV000386259 RCV003757170

NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)

SNV
Germline

Chr19:38500912

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069757

rs_368560744

7 SubmittersRCV000272030 RCV000320313 RCV000329583 RCV000359718 RCV000655719 RCV001085945 RCV005434834

NM_000540.3(RYR1):c.7755C>T (p.Thr2585=)

SNV
Germline

Chr19:38502647

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA070152

rs_768702294

3 SubmittersRCV000262053 RCV000319519 RCV000371970 RCV000386494 RCV001478499

NM_000540.3(RYR1):c.7855C>T (p.Leu2619=)

SNV
Germline

Chr19:38502899

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA070859

rs_762212220

2 SubmittersRCV000285159 RCV000290862 RCV000325976 RCV000385132 RCV001494688

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

SNV
Germline

Chr19:38511586

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
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

Criteria Provided
Conflicting Classifications

CA073259

rs_200797340

7 SubmittersRCV000289050 RCV000346443 RCV000381209 RCV000384648 RCV001660679 RCV000655514 RCV005018684 RCV003995872

NM_000540.3(RYR1):c.9261C>T (p.Ile3087=)

SNV
Germline

Chr19:38512272

Conflicting classifications of pathogenicity

Multiminicore myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA073441

rs_56338790

7 SubmittersRCV000265326 RCV000268916 RCV000304062 RCV003995873 RCV000361218 RCV000721733 RCV001087825

NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)

SNV
Germline

Chr19:38523228

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Multiminicore myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA053293

rs_376830015

3 SubmittersRCV000275472 RCV000315315 RCV000330605 RCV000369963 RCV000721200 RCV001465261

NM_000540.3(RYR1):c.11412C>T (p.Leu3804=)

SNV
Germline

Chr19:38535193

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA056876

rs_376851030

4 SubmittersRCV000281147 RCV000338508 RCV000377549 RCV000398248 RCV000655610 RCV003133227

NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)

SNV
Germline

Chr19:38535997

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia of anesthesia
Multiminicore myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA057084

rs_151239950

4 SubmittersRCV000306797 RCV000363542 RCV000364857 RCV000391757 RCV001050295 RCV003514351 RCV005480357

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

SNV
Germline

Chr19:38565288

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
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 SubmittersRCV000290164 RCV000326773 RCV000340398 RCV000384595 RCV002523065

NM_000540.3(RYR1):c.13038T>C (p.Ala4346=)

SNV
Germline

Chr19:38565372

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA059539

rs_758223017

2 SubmittersRCV000277297 RCV000313598 RCV000363576 RCV000366875 RCV003757174

NM_000540.3(RYR1):c.13191C>T (p.Ala4397=)

SNV
Germline

Chr19:38565525

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059625

rs_543458339

3 SubmittersRCV000285745 RCV000321065 RCV000336119 RCV000380159 RCV000655645 RCV002225586

NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)

SNV
Germline

Chr19:38578028

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA061035

rs_201157293

6 SubmittersRCV000310165 RCV000339321 RCV000345135 RCV000556274 RCV000401414 RCV003133228

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

SNV
Germline

Chr19:38585002

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10642775

rs_886054411

3 SubmittersRCV000287271 RCV000336592 RCV000342306 RCV000395190 RCV001461603

NM_000540.3(RYR1):c.*135C>T

SNV
Germline

Chr19:38587555

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10642776

rs_188314477

1 SubmittersRCV000274180 RCV000279566 RCV000319777 RCV000374482

NM_000540.3(RYR1):c.537+13G>A

SNV
Germline

Chr19:38444274

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
RYR1-related disorder
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy

Criteria Provided
Conflicting Classifications

CA066968

rs_754569485

2 SubmittersRCV000280476 RCV003757168 RCV000374886 RCV000340557 RCV000390244

NM_000540.3(RYR1):c.3924G>C (p.Pro1308=)

SNV
Germline

Chr19:38473535

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065352

rs_144350050

5 SubmittersRCV000290315 RCV000347639 RCV000381142 RCV000385854 RCV000721514 RCV001086546

NM_000540.3(RYR1):c.3981C>G (p.Pro1327=)

SNV
Germline

Chr19:38473592

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA065445

rs_763082630

2 SubmittersRCV000300437 RCV000340476 RCV000352945 RCV000398871 RCV001426429

NM_000540.3(RYR1):c.4266C>T (p.Asp1422=)

SNV
Germline

Chr19:38475423

Conflicting classifications of pathogenicity

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10648631

rs_886054385

3 SubmittersRCV000262875 RCV000292316 RCV000317939 RCV000386481 RCV001424923

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

SNV
Germline

Chr19:38475426

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065813

rs_2229141

8 SubmittersRCV000288850 RCV000333270 RCV000347977 RCV000387872 RCV000721530 RCV001088328 RCV005268595

NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro)

SNV
Germline

Chr19:38494430

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA068150

rs_201649680

2 SubmittersRCV000303533 RCV000358367 RCV000393407 RCV000398295 RCV003320631

NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)

SNV
Germline

Chr19:38496317

Conflicting classifications of pathogenicity

Multiminicore myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
RYR1-related disorder
Malignant hyperthermia of anesthesia

Criteria Provided
Conflicting Classifications

CA068509

rs_371006370

2 SubmittersRCV000319895 RCV000273945 RCV000355962 RCV000868600 RCV000368727

NM_000540.3(RYR1):c.7842C>T (p.Ile2614=)

SNV
Germline

Chr19:38502886

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA070814

rs_777420696

2 SubmittersRCV000265194 RCV000320354 RCV000355376 RCV000379531 RCV002057507

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

SNV
Germline

Chr19:38504759

Conflicting classifications of pathogenicity

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA071456

rs_368063600

2 SubmittersRCV000259500 RCV000284075 RCV000319320 RCV000373972 RCV000861066

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

SNV
Germline

Chr19:38505871

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA072075

rs_761622550

2 SubmittersRCV000266825 RCV000326628 RCV000362543 RCV000361260 RCV002057508

NM_000540.3(RYR1):c.8514A>C (p.Lys2838Asn)

SNV
Germline

Chr19:38505919

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Central core myopathy
Multiminicore myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Neuromuscular disease, congenital, with uniform type 1 fiber

Criteria Provided
Conflicting Classifications

CA072142

rs_140171924

3 SubmittersRCV000272700 RCV000292819 RCV000327865 RCV004804986 RCV002521223 RCV000387044

NM_000540.3(RYR1):c.9555-10C>T

SNV
Germline

Chr19:38516077

Conflicting classifications of pathogenicity

Central core myopathy
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
not specified
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA073793

rs_774666035

4 SubmittersRCV000259435 RCV000317059 RCV000332119 RCV000370403 RCV000429807 RCV001459437

NM_000540.3(RYR1):c.9685+8G>T

SNV
Germline

Chr19:38516225

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA074002

rs_752615788

2 SubmittersRCV000276175 RCV000297357 RCV000370708 RCV000404097 RCV001412533

NM_000540.3(RYR1):c.10260-12C>T

SNV
Germline

Chr19:38523016

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA052848

rs_779541890

4 SubmittersRCV000283933 RCV000338947 RCV000342556 RCV000391248 RCV002057509

NM_000540.3(RYR1):c.10263G>A (p.Ala3421=)

SNV
Germline

Chr19:38523031

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA052950

rs_778171066

3 SubmittersRCV000299463 RCV000354208 RCV000391270 RCV000403332 RCV001491002

NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=)

SNV
Germline

Chr19:38534752

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia of anesthesia
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Multiminicore myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber

Criteria Provided
Conflicting Classifications

CA10648646

rs_886054401

3 SubmittersRCV000276753 RCV000315425 RCV001506741 RCV003995875 RCV000354968 RCV000366856

NM_000540.3(RYR1):c.12219T>A (p.Ser4073=)

SNV
Germline

Chr19:38548357

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA058467

rs_764395582

2 SubmittersRCV000270290 RCV000273946 RCV000315124 RCV000369757

NM_000540.3(RYR1):c.12888G>C (p.Arg4296=)

SNV
Germline

Chr19:38565222

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10648658

rs_571850239

2 SubmittersRCV000275321 RCV000295165 RCV000330216 RCV000389391 RCV000655680

NM_000540.3(RYR1):c.14196C>A (p.Ile4732=)

SNV
Germline

Chr19:38577941

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA060981

rs_201670423

4 SubmittersRCV000267872 RCV000303085 RCV000315974 RCV000360214 RCV000531112

NM_000540.3(RYR1):c.1441-12T>C

SNV
Germline

Chr19:38455223

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651818

rs_760987340

2 SubmittersRCV000271566 RCV000306535 RCV000363816 RCV000391071 RCV002521217

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

SNV
Germline

Chr19:38460559

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA063415

rs_200893443

7 SubmittersRCV000311307 RCV000336109 RCV000347451 RCV000400231 RCV000721456 RCV001085250

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

SNV
Germline

Chr19:38463521

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
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 SubmittersRCV000263941 RCV000304164 RCV000319110 RCV000358911 RCV000556795 RCV001718687

NM_000540.3(RYR1):c.2823G>A (p.Ala941=)

SNV
Germline

Chr19:38464675

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064080

rs_750305530

4 SubmittersRCV000277066 RCV000332068 RCV000353812 RCV000368172 RCV001859940

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
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064238

rs_775442275

4 SubmittersRCV000271380 RCV000326462 RCV000362410 RCV000366045 RCV000655722

NM_000540.3(RYR1):c.3021C>T (p.Ser1007=)

SNV
Germline

Chr19:38466241

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Malignant hyperthermia of anesthesia
Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064318

rs_143891703

3 SubmittersRCV000267444 RCV000303829 RCV000358587 RCV000362093 RCV000841631 RCV001483259

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

SNV
Germline

Chr19:38466343

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651846

rs_569565316

3 SubmittersRCV000300767 RCV000304081 RCV000340438 RCV000398910 RCV001444339

NM_000540.3(RYR1):c.5025G>C (p.Leu1675=)

SNV
Germline

Chr19:38485680

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651848

rs_886054388

2 SubmittersRCV000272893 RCV000320685 RCV000326651 RCV000383683 RCV003757169

NM_000540.3(RYR1):c.5548-9G>T

SNV
Germline

Chr19:38489168

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA067270

rs_776320867

3 SubmittersRCV000296508 RCV000325708 RCV000382455 RCV000388466 RCV002057506

NM_000540.3(RYR1):c.7344T>C (p.Gly2448=)

SNV
Germline

Chr19:38500626

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Multiminicore myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069555

rs_199813873

5 SubmittersRCV000262130 RCV000311415 RCV000368469 RCV000397588 RCV000872671 RCV003995869 RCV004584674

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

SNV
Germline

Chr19:38500704

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
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 SubmittersRCV000284595 RCV000327926 RCV000379912 RCV000384750 RCV003757171

NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)

SNV
Germline

Chr19:38500864

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069727

rs_375997435

5 SubmittersRCV000288054 RCV000296496 RCV000345553 RCV000390664 RCV001093149 RCV001207649

NM_000540.3(RYR1):c.7927-7C>T

SNV
Germline

Chr19:38504213

Conflicting classifications of pathogenicity

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
not specified
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651865

rs_886054395

3 SubmittersRCV000302093 RCV000361454 RCV000405078 RCV000403061 RCV000714855 RCV002521222

NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)

SNV
Germline

Chr19:38504762

Conflicting classifications of pathogenicity

Multiminicore myopathy
Central core myopathy
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA071465

rs_745619519

3 SubmittersRCV000285086 RCV000339139 RCV000344865 RCV000379609 RCV000655606 RCV003995870

NM_000540.3(RYR1):c.8310+10A>G

SNV
Germline

Chr19:38505091

Conflicting classifications of pathogenicity

Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA071767

rs_372730488

3 SubmittersRCV000263387 RCV000318492 RCV000353964 RCV000377912 RCV000558919

NM_000540.3(RYR1):c.9825C>T (p.Pro3275=)

SNV
Germline

Chr19:38517498

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA074199

rs_753425281

3 SubmittersRCV000314240 RCV000335224 RCV000350374 RCV000406845 RCV002521224

NM_000540.3(RYR1):c.10458C>T (p.Ser3486=)

SNV
Germline

Chr19:38525334

Conflicting classifications of pathogenicity

Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA053762

rs_770132934

4 SubmittersRCV000271674 RCV000326697 RCV000366652 RCV000381288 RCV000866069 RCV003479099

NM_000540.3(RYR1):c.10803C>A (p.Ala3601=)

SNV
Germline

Chr19:38527763

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651880

rs_141542477

2 SubmittersRCV000263466 RCV000265489 RCV000320643 RCV000375297 RCV003765905

NM_000540.3(RYR1):c.10938-11C>T

SNV
Germline

Chr19:38528588

Conflicting classifications of pathogenicity

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA055308

rs_760754746

3 SubmittersRCV000293881 RCV000346406 RCV000385840 RCV000407973 RCV003765906

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

SNV
Germline

Chr19:38532556

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
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 SubmittersRCV000285706 RCV000343029 RCV000382513 RCV000391397 RCV002057510

NM_000540.3(RYR1):c.11385C>T (p.Ser3795=)

SNV
Germline

Chr19:38535166

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA056848

rs_757745087

4 SubmittersRCV000286552 RCV000320535 RCV000326225 RCV000378623 RCV001435330 RCV005411413

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

SNV
Germline

Chr19:38543668

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
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 SubmittersRCV000302219 RCV000359696 RCV000360509 RCV000408133 RCV003757172

NM_000540.3(RYR1):c.12624+9A>G

SNV
Germline

Chr19:38561463

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA059236

rs_548515798

2 SubmittersRCV000264567 RCV000309307 RCV000359406 RCV000392672 RCV001850760

NM_000540.3(RYR1):c.13551C>T (p.Pro4517=)

SNV
Germline

Chr19:38567809

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651894

rs_886054410

3 SubmittersRCV000299957 RCV000334873 RCV000357149 RCV000400738 RCV003591727

NM_000540.3(RYR1):c.14129+10C>A

SNV
Germline

Chr19:38573317

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA060823

rs_546280470

2 SubmittersRCV000314047 RCV000349023 RCV000352552 RCV000399675 RCV000861778

NM_000540.3(RYR1):c.14602G>A (p.Glu4868Lys)

SNV
Germline

Chr19:38580460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA061423

rs_187569997

4 SubmittersRCV000276585 RCV000334101 RCV000368870 RCV000381623 RCV003317192 RCV002521226

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

SNV
Germline

Chr19:38584966

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA061510

rs_773080803

6 SubmittersRCV000289632 RCV000328355 RCV000385235 RCV000868705 RCV000415618 RCV001718688

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

SNV
Germline

Chr19:38459334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA063123

rs_369281291

8 SubmittersRCV000278670 RCV000293885 RCV000351092 RCV000389411 RCV000823531 RCV000996863 RCV002521218

NM_000540.3(RYR1):c.2835G>A (p.Ala945=)

SNV
Germline

Chr19:38464687

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064089

rs_576990255

5 SubmittersRCV000273622 RCV000288806 RCV000328415 RCV000383044 RCV000868274 RCV004597780

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

SNV
Germline

Chr19:38464696

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064092

rs_761045773

4 SubmittersRCV000285525 RCV000325076 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
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA065927

rs_200289457

10 SubmittersRCV000275614 RCV000312053 RCV000356178 RCV000371141 RCV000526894 RCV000513329 RCV002523063

NM_000540.3(RYR1):c.6600G>A (p.Ala2200=)

SNV
Germline

Chr19:38496266

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068464

rs_375640581

4 SubmittersRCV000283795 RCV000348050 RCV000397482 RCV000403740 RCV000721618 RCV001086765

NM_000540.3(RYR1):c.7053T>C (p.Asn2351=)

SNV
Germline

Chr19:38499660

Conflicting classifications of pathogenicity

Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Central core myopathy
RYR1-related disorder
Malignant hyperthermia of anesthesia

Criteria Provided
Conflicting Classifications

CA069079

rs_748167551

2 SubmittersRCV000282587 RCV000298057 RCV000405178 RCV000878714 RCV000337664

NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)

SNV
Germline

Chr19:38506851

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA072631

rs_368684717

6 SubmittersRCV000284518 RCV000341911 RCV000376679 RCV000391685 RCV000502645 RCV000721716 RCV001087983

NM_000540.3(RYR1):c.10938-12T>A

SNV
Germline

Chr19:38528587

Conflicting classifications of pathogenicity

Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Conflicting Classifications

CA055312

rs_767711818

2 SubmittersRCV000295117 RCV000316290 RCV000352244 RCV000373214

NM_000540.3(RYR1):c.12084G>T (p.Ser4028=)

SNV
Germline

Chr19:38546516

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10652422

rs_571477269

2 SubmittersRCV000287574 RCV000344848 RCV000384274 RCV000378552 RCV003757173

NM_000540.3(RYR1):c.13350G>A (p.Gly4450=)

SNV
Germline

Chr19:38565684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059752

rs_748743312

6 SubmittersRCV000271016 RCV000302764 RCV000357600 RCV000363198 RCV000727521 RCV000501104 RCV001088212

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

SNV
Germline

Chr19:38473726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065572

rs_370966353

11 SubmittersRCV000415245 RCV000690328 RCV000487533 RCV001128278 RCV001128280 RCV001198358 RCV001128279 RCV003993948

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

SNV
Germline

Chr19:38505868

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043556

rs_1057518773

5 SubmittersRCV000415002 RCV003995931 RCV001861443 RCV005018713

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

SNV
Germline

Chr19:38467817

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064755

rs_199691436

4 SubmittersRCV000422889 RCV004000367 RCV002226708 RCV005090748

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

SNV
Germline

Chr19:38502728

Likely pathogenic

Condition: not provided
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

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

Criteria Provided
Conflicting Classifications

CA068423

rs_370994573

4 SubmittersRCV000655697 RCV001721301 RCV001127015 RCV001127017 RCV001127016

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

SNV
Germline

Chr19:38536071

Conflicting classifications of pathogenicity

Condition: not provided
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
Centronuclear myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16608213

rs_113928116

5 SubmittersRCV000438320 RCV000803108 RCV002502495 RCV004017611 RCV003996031

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

SNV
Germline

Chr19:38478613

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066238

rs_201971363

3 SubmittersRCV000423225 RCV001123858 RCV001123856 RCV001123857 RCV002062729

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

SNV
Germline

Chr19:38496207

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068419

rs_756593088

6 SubmittersRCV000454540 RCV001127018 RCV001127441 RCV001127442 RCV001865413

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

SNV
Germline

Chr19:38473772

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405643333

rs_113460156

5 SubmittersRCV000490681 RCV004722827 RCV002489200 RCV003757181 RCV004806371

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

Criteria Provided
Conflicting Classifications

CA073816

rs_756331568

9 SubmittersRCV000504175 RCV000721749 RCV001221339 RCV001829435 RCV003992308 RCV004720267 RCV004003530

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

SNV
Germline

Chr19:38467683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064615

rs_144164620

3 SubmittersRCV001125027 RCV001125025 RCV000512747 RCV001089334 RCV001125026

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

SNV
Germline

Chr19:38512484

Pathogenic

Condition: not provided
Inborn genetic diseases
RYR1-related disorder
Congenital myopathy with fiber type disproportion
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

CA073621

rs_776697656

7 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622 RCV004737600

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

SNV
Germline

Chr19:38573308

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA060836

rs_142929172

4 SubmittersRCV000519097 RCV001851492 RCV002497013

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

SNV
Germline

Chr19:38483429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

5 SubmittersRCV000541033 RCV001546453 RCV004024433 RCV002476208

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

SNV
Germline

Chr19:38500715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069622

rs_141298868

6 SubmittersRCV000539694 RCV000721652 RCV005398873

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405692312

rs_1432807966

7 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV003999490 RCV002497202

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

SNV
Germline

Chr19:38566950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059891

rs_149455643

6 SubmittersRCV000551114 RCV000764199 RCV000623122 RCV001797108 RCV004802183

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

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

5 SubmittersRCV002497201 RCV000827374 RCV001078943 RCV003999489

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

SNV
Germline

Chr19:38492637

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405662693

rs_1226228092

8 SubmittersRCV000525713 RCV000853333 RCV000721603 RCV005018959 RCV004802184

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

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

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

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

5 SubmittersRCV000721297 RCV001082883 RCV001131808 RCV001131809 RCV001131810

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

SNV
Germline

Chr19:38584993

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

CA061519

rs_770698609

3 SubmittersRCV001134675 RCV001134676 RCV001134677 RCV000552120

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
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

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_000540.3(RYR1):c.11034+15G>A

SNV
Germline

Chr19:38528710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA055593

rs_552725260

3 SubmittersRCV000611618 RCV001135774 RCV001135776 RCV001135775 RCV002064178

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

SNV
Germline

Chr19:38580396

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

CA061382

rs_763954439

5 SubmittersRCV000721379 RCV001081890 RCV001132277 RCV001132278 RCV001132279

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

Criteria Provided
Conflicting Classifications

CA059313

rs_757157750

6 SubmittersRCV000626706 RCV001198660 RCV001297707 RCV001532375 RCV001729664 RCV004002758

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

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

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

SNV
Germline

Chr19:38460502

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA063319

rs_142548565

8 SubmittersRCV000721451 RCV005429031 RCV003147531 RCV000655535 RCV003235329

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

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

6 SubmittersRCV000655593 RCV001125554 RCV001125555 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
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA064958

rs_769744438

7 SubmittersRCV000655600 RCV000721499 RCV004004155 RCV005019092 RCV004586854

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

SNV
Germline

Chr19:38452824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059053

rs_764262446

11 SubmittersRCV000655525 RCV002250674 RCV005019091 RCV001729679 RCV000658830 RCV003334390 RCV004004138 RCV004525996

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

SNV
Germline

Chr19:38496407

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405666150

rs_1346257891

5 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
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy
Condition: not provided
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA069011

rs_536596969

6 SubmittersRCV000655584 RCV000754734 RCV004004153 RCV004586853 RCV003238799 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
Congenital myopathy with fiber type disproportion
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

6 SubmittersRCV000655563 RCV000721760 RCV002307581 RCV002499131

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

5 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
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA059496

rs_755065800

4 SubmittersRCV000721295 RCV005392253 RCV001083692

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

SNV
Germline

Chr19:38502879

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA082842

rs_1568507354

3 SubmittersRCV000678325 RCV003591771 RCV002493120

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

SNV
Germline

Chr19:38442391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405674053

rs_1456276440

5 SubmittersRCV000680086 RCV001784304 RCV001861877 RCV002507180 RCV004004220

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

SNV
Germline

Chr19:38448649

Conflicting classifications of pathogenicity

RYR1-related disorder
Central core myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

CA507355614

rs_1357186643

2 SubmittersRCV000703165 RCV002499265

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

SNV
Germline

Chr19:38452916

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA308120715

rs_911417327

4 SubmittersRCV000692043 RCV005392294 RCV004586880 RCV005001101

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
Inborn genetic diseases
RYR1-related myopathy

Criteria Provided
Conflicting Classifications

CA052986

rs_150977342

7 SubmittersRCV000699049 RCV001331318 RCV003130009 RCV004026463 RCV004788135

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

SNV
Germline

Chr19:38586086

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA063399

rs_146754847

6 SubmittersRCV000693319 RCV000721454 RCV003999596 RCV002477569

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

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

RYR1-related disorder
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 1
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

Criteria Provided
Conflicting Classifications

CA066054

rs_747718728

7 SubmittersRCV000693287 RCV002531464 RCV003999595 RCV002477568 RCV003130003

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

Criteria Provided
Conflicting Classifications

CA308119861

rs_777016690

5 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.5314A>G (p.Arg1772Gly)

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

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

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

7 SubmittersRCV000721617 RCV000800253 RCV004802407 RCV005253091

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

SNV
Germline

Chr19:38510645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073057

rs_372702492

4 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
Central core myopathy
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Centronuclear myopathy

Criteria Provided
Conflicting Classifications

CA074292

rs_544339193

5 SubmittersRCV000721762 RCV001312367 RCV002485830 RCV004586902

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

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059617

rs_748844266

7 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924 RCV004702371

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

Criteria Provided
Conflicting Classifications

CA405684067

rs_1189024951

6 SubmittersRCV000721355 RCV000814221 RCV003999821 RCV005004386

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
Central core myopathy
King Denborough syndrome

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

Likely pathogenic

Central core myopathy

No Assertion Criteria Provided

CA405690443

rs_978984063

1 SubmittersRCV000786072

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

SNV
Germline

Chr19:38580028

Likely pathogenic

Central core myopathy

No Assertion Criteria Provided

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405650606

rs_1332371891

4 SubmittersRCV000754733 RCV002536549 RCV004586913 RCV005021145

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

SNV
Germline

Chr19:38448392

Pathogenic

Central core myopathy
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA405681155

rs_1278804520

3 SubmittersRCV000760976 RCV003757205

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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

CA062717

rs_202105428

5 SubmittersRCV000805637 RCV001125553 RCV001125551 RCV001125552 RCV001310399

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

SNV
Germline

Chr19:38466204

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405634883

rs_1440262870

5 SubmittersRCV000811818 RCV003141824 RCV002495127 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
not specified
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA068263

rs_776830747

7 SubmittersRCV000813191 RCV001729710 RCV003132080 RCV005056593 RCV004001749

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

SNV
Germline

Chr19:38584963

Pathogenic

Central core myopathy
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA405690192

rs_193922887

2 SubmittersRCV000853348 RCV000801582

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

SNV
Germline

Chr19:38459268

Pathogenic/Likely pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA063087

rs_371455345

2 SubmittersRCV001383922 RCV000825544

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

SNV
Germline

Chr19:38440741

Conflicting classifications of pathogenicity

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
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA066333

rs_201094741

4 SubmittersRCV000867181 RCV002487901 RCV004002997

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

SNV
Germline

Chr19:38473667

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

CA308079786

rs_915321867

3 SubmittersRCV001126225 RCV001126226 RCV001126227 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
Congenital myopathy with fiber type disproportion
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

CA068570

rs_766836202

5 SubmittersRCV000996855 RCV001215577 RCV002481782 RCV004004442

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

SNV
Germline

Chr19:38458169

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA062775

rs_776252106

6 SubmittersRCV001862742 RCV002479200 RCV001004922 RCV004004475 RCV002305557

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

SNV
Germline

Chr19:38458108

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405695616

rs_1305971341

5 SubmittersRCV001058792 RCV002505620 RCV001784614 RCV004000105

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

Criteria Provided
Conflicting Classifications

CA064173

rs_143179371

5 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
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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069098

rs_144526634

4 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
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
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
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA073657

rs_770942162

3 SubmittersRCV001057839 RCV002482022 RCV004000093

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

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
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
Central core myopathy

Criteria Provided
Conflicting Classifications

CA061315

rs_193922875

5 SubmittersRCV001040954 RCV003130110 RCV002481884 RCV004819235

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

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

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

9 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
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
King Denborough syndrome
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA052265

rs_538500669

5 SubmittersRCV001093153 RCV001231239 RCV002482167 RCV005409773 RCV004000222

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

Criteria Provided
Conflicting Classifications

CA073142

rs_144067910

3 SubmittersRCV001125256 RCV001125257 RCV001126230 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

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

Criteria Provided
Conflicting Classifications

CA074094

rs_764290955

2 SubmittersRCV001128467 RCV001128468 RCV001128469 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

Criteria Provided
Conflicting Classifications

CA074275

rs_776468955

2 SubmittersRCV001123860 RCV001123859 RCV001126499 RCV002070021

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.9555-14G>A

SNV
Germline

Chr19:38516073

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073800

rs_763353979

4 SubmittersRCV001126334 RCV001128376 RCV001128377 RCV002070065 RCV003490081

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

SNV
Germline

Chr19:38516083

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

CA632876987

rs_1417337927

2 SubmittersRCV001122654 RCV001122656 RCV001122655 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

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

Criteria Provided
Conflicting Classifications

CA057532

rs_776123178

3 SubmittersRCV001128886 RCV001128887 RCV001131555 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
Malignant hyperthermia, susceptibility to, 1
King Denborough syndrome
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
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

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

Criteria Provided
Conflicting Classifications

CA082877

rs_1365856881

7 SubmittersRCV005005088 RCV001780144 RCV004803576 RCV003156321 RCV001219907

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

Condition: not provided
RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA308134023

rs_199895006

3 SubmittersRCV001780158 RCV001227328 RCV003989647

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

Criteria Provided
Conflicting Classifications

CA308123278

rs_927675372

4 SubmittersRCV001334520 RCV002476551 RCV001865812 RCV004005143

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

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

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

CA062851

rs_565825739

7 SubmittersRCV001334521 RCV001702096 RCV003591856 RCV002499657 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

Criteria Provided
Conflicting Classifications

CA069809

rs_575446156

5 SubmittersRCV001363484 RCV001773721 RCV002291505 RCV004656561

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

SNV
Germline

Chr19:38523115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA053217

rs_373702420

3 SubmittersRCV001370548 RCV004006823 RCV002504621

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

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
Central core myopathy
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA405685479

rs_1974046221

4 SubmittersRCV001531894 RCV003757223 RCV004017845 RCV004804225

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

Reviewed By Expert Panel

CA308123345

rs_113812662

2 SubmittersRCV001580389 RCV005409829

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

SNV
Germline

Chr19:38505082

Pathogenic

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

Reviewed By Expert Panel

CA405677313

rs_1970380121

5 SubmittersRCV001663366 RCV001775179 RCV003757225 RCV004008957 RCV004738355

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

Likely pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA405692175

rs_2145917373

2 SubmittersRCV002034691 RCV001829287

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

SNV
Germline

Chr19:38496923

Conflicting classifications of pathogenicity

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

Conflicting classifications of pathogenicity

RYR1-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 1
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
Conflicting Classifications

CA405683232

rs_1457662393

4 SubmittersRCV001941795 RCV003325593 RCV004010985 RCV002497871

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

SNV
Germline

Chr19:38448501

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073714

rs_193922761

5 SubmittersRCV001962291 RCV004009225 RCV005253914 RCV002490033 RCV005409051

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

SNV
Germline

Chr19:38446710

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069619

rs_1801086

4 SubmittersRCV002008037 RCV004699607 RCV004011032 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

Central core myopathy
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA405683370

rs_1381679767

2 SubmittersRCV003340598 RCV003064582

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

SNV
Germline

Chr19:38460463

Pathogenic/Likely pathogenic

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

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_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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405690254

rs_118192151

2 SubmittersRCV005030121 RCV003591149

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

SNV
Germline

Chr19:38536768

Likely pathogenic

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

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

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

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

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