Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	SNV Germline	Chr19:38457545	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Inborn genetic diseases Malignant hyperthermia of anesthesia enflurane response - Toxicity succinylcholine response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Reviewed By Expert Panel	CA024311	rs_118192172	27 SubmittersRCV000013830 RCV000119586 RCV000538121 RCV000624176 RCV000608635 RCV001787389 RCV001787394 RCV001787390 RCV001787391 RCV001787392 RCV001787393 RCV001787388 RCV002496349
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	SNV Germline	Chr19:38499997	Pathogenic; drug response	Central core myopathy Condition: not provided RYR1-related disorder enflurane response - Toxicity desflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024750	rs_28933396	9 SubmittersRCV000013832 RCV000119699 RCV000707405 RCV001787396 RCV001787395 RCV001787397 RCV001787398 RCV001787399 RCV001787400 RCV001787401 RCV002281705 RCV004017238
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	SNV Germline	Chr19:38444211	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA018598	rs_118192161	9 SubmittersRCV000013833 RCV000013834 RCV000119625 RCV000806352 RCV001787706 RCV001787708 RCV001787710 RCV001787711 RCV001787402 RCV001787707 RCV001787709 RCV004017239
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	SNV Germline	Chr19:38499993	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Malignant hyperthermia of anesthesia isoflurane response - Toxicity sevoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity Central core myopathy Inborn genetic diseases	Reviewed By Expert Panel	CA024747	rs_121918593	26 SubmittersRCV000013837 RCV000119698 RCV000551243 RCV000612258 RCV001787722 RCV001787724 RCV001787723 RCV001787725 RCV001787719 RCV001787720 RCV001787721 RCV002288488 RCV002513026
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	SNV Germline	Chr19:38500654	Likely pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided Malignant hyperthermia of anesthesia RYR1-related disorder sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Reviewed By Expert Panel	CA024784	rs_28933397	11 SubmittersRCV000013838 RCV000119711 RCV000614410 RCV000796565 RCV001787731 RCV001787726 RCV001787727 RCV001787728 RCV001787729 RCV001787730 RCV001787732 RCV002490361
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	SNV Germline	Chr19:38494564	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided desflurane response - Toxicity halothane response - Toxicity RYR1-related disorder isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity enflurane response - Toxicity	Reviewed By Expert Panel	CA024590	rs_118192175	10 SubmittersRCV000013840 RCV000056223 RCV000119653 RCV001787740 RCV001787742 RCV001385701 RCV001787743 RCV001787744 RCV001787745 RCV001787746 RCV001787741
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	SNV Germline	Chr19:38494565	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity	Reviewed By Expert Panel	CA024593	rs_118192163	9 SubmittersRCV000013841 RCV000013842 RCV000119654 RCV001204982 RCV001787747 RCV001787749 RCV001787748 RCV001787750 RCV001787751 RCV001787752 RCV001787753
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	SNV Germline	Chr19:38494579	Pathogenic; drug response	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia methoxyflurane response - Toxicity succinylcholine response - Toxicity Central core myopathy desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity sevoflurane response - Toxicity Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024603	rs_118192176	10 SubmittersRCV000013845 RCV000119656 RCV000557804 RCV000578323 RCV001787765 RCV001787767 RCV001729347 RCV001787761 RCV001787762 RCV001787763 RCV001787764 RCV001787766 RCV003398498
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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024392	rs_118192173	15 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV002496350 RCV003447473 RCV003996093
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	SNV Germline	Chr19:38499961	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Lower limb amyotrophy EMG abnormality Clubfoot RYR1-related disorder Condition: not provided Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease	Criteria Provided Conflicting Classifications	CA024732	rs_118192174	10 SubmittersRCV000013861 RCV000415169 RCV001851835 RCV000119694 RCV001197410 RCV002504782 RCV003996094 RCV004017243
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	7 SubmittersRCV000210003 RCV000253393 RCV000300656 RCV000357829 RCV000404978 RCV000721732 RCV001086670
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	SNV Germline	Chr19:38519399	Conflicting classifications of pathogenicity	Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy not specified RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA023822	rs_367543058	11 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)	SNV Unknown	Chr19:38451846	Pathogenic	Congenital myopathy with fiber type disproportion Condition: not provided Central core myopathy	No Assertion Criteria Provided	CA023960	rs_118192117	2 SubmittersRCV000034926 RCV000119451 RCV000056214
NM_000540.3(RYR1):c.10348-6C>G	SNV Germline	Chr19:38523211	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Inborn genetic diseases King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Criteria Provided Conflicting Classifications	CA023836	rs_193922837	14 SubmittersRCV000119410 RCV000535801 RCV000624604 RCV001249074 RCV001775081 RCV003997313 RCV002477304
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)	SNV Unknown	Chr19:38565320	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024025	rs_118192129	2 SubmittersRCV000056171 RCV000119471
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)	SNV Germline	Chr19:38580395	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024167	rs_118192143	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 Single Submitter	CA024241	rs_118192153	4 SubmittersRCV000056173 RCV000119555 RCV002513729
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)	SNV Germline	Chr19:38572172	Pathogenic	Central core myopathy Condition: not provided	Criteria Provided Single Submitter	CA024076	rs_118192133	3 SubmittersRCV000056181 RCV000119486
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)	SNV Germline	Chr19:38585058	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA024251	rs_118192156	3 SubmittersRCV000056186 RCV000119560 RCV001854161
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)	SNV Germline	Chr19:38572184	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA024082	rs_118192136	3 SubmittersRCV000056190 RCV000119489 RCV000687662
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)	SNV Unknown	Chr19:38584967	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024215	rs_118192149	2 SubmittersRCV000056192 RCV000119544
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)	SNV Unknown	Chr19:38584986	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024231	rs_118192148	2 SubmittersRCV000056194 RCV000119551
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)	SNV Germline	Chr19:38584992	Pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Single Submitter	CA024237	rs_118192183	3 SubmittersRCV000056195 RCV000119554 RCV001382210
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)	SNV Germline	Chr19:38572224	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 RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024775	rs_118192123	5 SubmittersRCV000056200 RCV000119708 RCV001383435 RCV001588885
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)	SNV Unknown	Chr19:38527777	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA023862	rs_118192127	2 SubmittersRCV000056205 RCV000119419
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)	SNV Germline	Chr19:38570650	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024069	rs_118192131	4 SubmittersRCV000056206 RCV000119484 RCV001066791
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)	SNV Germline	Chr19:38572221	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA024091	rs_118192138	4 SubmittersRCV000056208 RCV000119493 RCV001039994
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	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024174	rs_118192144	2 SubmittersRCV000056216 RCV000119529
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	SNV Germline	Chr19:38500636	Likely pathogenic; drug response	Central core myopathy Condition: not provided methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity King Denborough syndrome desflurane response - Toxicity halothane response - Toxicity Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder enflurane response - Toxicity isoflurane response - Toxicity RYR1-related myopathy	Reviewed By Expert Panel	CA024770	rs_118192124	13 SubmittersRCV000056226 RCV000119706 RCV001787851 RCV001787852 RCV001787853 RCV001729374 RCV001787847 RCV001787849 RCV002281899 RCV000527240 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 RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity	Reviewed By Expert Panel	CA024781	rs_118192122	15 SubmittersRCV000056227 RCV000119710 RCV000699835 RCV000709760 RCV001787859 RCV001787860 RCV001787854 RCV001787856 RCV001787858 RCV001787855 RCV001787857
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	SNV Germline	Chr19:38500898	Likely pathogenic	Central core myopathy Condition: not provided RYR1-related disorder Inborn genetic diseases Congenital myopathy with fiber type disproportion Abnormality of the musculature King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Reviewed By Expert Panel	CA024819	rs_118192178	12 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)	SNV Germline	Chr19:38506952	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024952	rs_118192125	4 SubmittersRCV000056229 RCV000119763 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 RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Lynch syndrome 5	Criteria Provided Conflicting Classifications	CA024150	rs_118192180	5 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)	SNV Unknown	Chr19:38584974	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024223	rs_118192151	2 SubmittersRCV000056234 RCV000119547
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	SNV Germline	Chr19:38584973	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024220	rs_118192150	8 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)	SNV Germline	Chr19:38585036	Pathogenic	Central core myopathy Condition: not provided	Criteria Provided Single Submitter	CA024242	rs_118192184	3 SubmittersRCV000056237 RCV000119556
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)	SNV Germline	Chr19:38585037	Pathogenic	Central core myopathy Condition: not provided	Criteria Provided Single Submitter	CA024244	rs_118192154	3 SubmittersRCV000056238 RCV000119557
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)	SNV Germline	Chr19:38572182	Pathogenic	Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA024080	rs_118192134	4 SubmittersRCV000056242 RCV000119488 RCV000536286
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)	SNV Unknown	Chr19:38585055	Pathogenic	Central core myopathy Condition: not provided	No Assertion Criteria Provided	CA024246	rs_118192155	2 SubmittersRCV000056244 RCV000119558
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	not specified Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA023817	rs_140689610	12 SubmittersRCV000250990 RCV000308726 RCV000721187 RCV001080062 RCV000348497 RCV000344949 RCV000407628
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)	SNV Germline	Chr19:38565213	Conflicting classifications of pathogenicity	Condition: not provided not specified 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 Malignant hyperthermia of anesthesia	Criteria Provided Conflicting Classifications	CA024015	rs_193922854	13 SubmittersRCV000079126 RCV000252273 RCV000260031 RCV000355907 RCV000354942 RCV000415696 RCV001083097 RCV002051651
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=)	SNV Germline	Chr19:38580122	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia not specified Condition: not provided Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024159	rs_118126378	15 SubmittersRCV000259804 RCV000361747 RCV000304667 RCV000079132 RCV000721374 RCV000390273 RCV001082862
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=)	SNV Germline	Chr19:38489266	Conflicting classifications of pathogenicity	Condition: not provided 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	CA024532	rs_143418190	6 SubmittersRCV000079153 RCV000280975 RCV000335107 RCV000286979 RCV000405493 RCV001088721
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr)	SNV Germline	Chr19:38494436	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy King Denborough syndrome Congenital myopathy with fiber type disproportion 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	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA024637	rs_146617004	6 SubmittersRCV000363070 RCV000308423 RCV000723593 RCV001087587 RCV000314006 RCV000397477
NM_000540.3(RYR1):c.7737G>A (p.Val2579=)	SNV Germline	Chr19:38502629	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA024844	rs_114975624	7 SubmittersRCV000079168 RCV000307589 RCV000329613 RCV000147443 RCV001079993 RCV000276971 RCV000369238
NM_000243.3(MEFV):c.1261-28A>G	SNV Germline	Chr16:3249032	Conflicting classifications of pathogenicity	Familial Mediterranean fever Central core myopathy Condition: not provided Familial Mediterranean fever, autosomal dominant Acute febrile neutrophilic dermatosis	Criteria Provided Conflicting Classifications	CA280388	rs_104895140	6 SubmittersRCV000083690 RCV001258254 RCV001711585 RCV003126423 RCV003126424
NM_000540.3(RYR1):c.1123-11C>T	SNV Germline	Chr19:38451753	Conflicting classifications of pathogenicity	Condition: not provided Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia Central core myopathy not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA023902	rs_3745845	8 SubmittersRCV000119430 RCV000398335 RCV000280393 RCV000295802 RCV000243592 RCV000334467 RCV002055317
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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Central core myopathy not specified See cases RYR1-related myopathy	Criteria Provided Conflicting Classifications	CA023938	rs_147136339	21 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV003398723 RCV002251988 RCV003993810
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)	SNV Germline	Chr19:38451859	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	CA023973	rs_3745846	5 SubmittersRCV000119456 RCV000360290 RCV000303170 RCV000337884 RCV000391072 RCV001087365
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	SNV Germline	Chr19:38440829	Likely pathogenic; drug response	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 desflurane response - Toxicity enflurane response - Toxicity halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity succinylcholine response - Toxicity sevoflurane response - Toxicity Central core myopathy	Reviewed By Expert Panel	CA024034	rs_193922748	11 SubmittersRCV000119473 RCV001238887 RCV001588936 RCV001787944 RCV001787945 RCV001787946 RCV001787947 RCV001787948 RCV001787950 RCV001787949 RCV003338417
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	SNV Germline	Chr19:38577955	Pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Reviewed By Expert Panel	CA024118	rs_193922868	10 SubmittersRCV000119503 RCV003231155 RCV001380753 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	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Reviewed By Expert Panel	CA024276	rs_146876145	21 SubmittersRCV000119571 RCV000148804 RCV000554319 RCV000605381 RCV001249254 RCV001729396 RCV002505053
NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)	SNV Germline	Chr19:38455528	Likely pathogenic; drug response	Condition: not provided RYR1-related disorder sevoflurane response - Toxicity succinylcholine response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity desflurane response - Toxicity halothane response - Toxicity methoxyflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Reviewed By Expert Panel	CA024299	rs_193922770	6 SubmittersRCV000119581 RCV000536735 RCV001787970 RCV001787971 RCV001787966 RCV001787968 RCV001787965 RCV001787967 RCV001787969 RCV002281942 RCV003325460
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	SNV Germline	Chr19:38457546	Pathogenic; drug response	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity enflurane response - Toxicity isoflurane response - Toxicity Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Reviewed By Expert Panel	CA024313	rs_193922772	7 SubmittersRCV000119587 RCV001068141 RCV001705880 RCV002222024 RCV002222025 RCV002222026 RCV002222020 RCV002222022 RCV002222021 RCV002222023 RCV002477305
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)	SNV Germline	Chr19:38458246	Conflicting classifications of pathogenicity	Condition: not provided not specified 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	CA024329	rs_146104858	13 SubmittersRCV000119590 RCV000252771 RCV000288116 RCV000383723 RCV000291947 RCV000345447 RCV001085961
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	SNV Germline	Chr19:38485838	Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Malignant hyperthermia of anesthesia Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome	Reviewed By Expert Panel	CA024494	rs_193922781	14 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055
NM_000540.3(RYR1):c.5988C>T (p.Arg1996=)	SNV Germline	Chr19:38490249	Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy King Denborough syndrome	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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024651	rs_193922797	12 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV002492409 RCV003323407
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	SNV Germline	Chr19:38499670	Pathogenic; drug response	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder halothane response - Toxicity isoflurane response - Toxicity methoxyflurane response - Toxicity sevoflurane response - Toxicity desflurane response - Toxicity enflurane response - Toxicity succinylcholine response - Toxicity Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia	Reviewed By Expert Panel	CA024693	rs_193922803	11 SubmittersRCV000119682 RCV000763425 RCV000578408 RCV000803469 RCV001787995 RCV001787996 RCV001787997 RCV001787998 RCV001787993 RCV001787994 RCV001787999 RCV002281944 RCV004017408
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	SNV Germline	Chr19:38499975	Likely pathogenic; drug response	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder methoxyflurane response - Toxicity sevoflurane response - Toxicity succinylcholine response - Toxicity desflurane response - Toxicity halothane response - Toxicity Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Inborn genetic diseases enflurane response - Toxicity isoflurane response - Toxicity Malignant hyperthermia, susceptibility to	Reviewed By Expert Panel	CA024738	rs_193922809	13 SubmittersRCV000119695 RCV001127650 RCV001127649 RCV001236218 RCV001788011 RCV001788012 RCV001788013 RCV001788007 RCV001788009 RCV001127651 RCV002492410 RCV004019662 RCV001788008 RCV001788010 RCV004556734
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)	SNV Germline	Chr19:38458216	Conflicting classifications of pathogenicity	Condition: not provided not specified 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	Criteria Provided Conflicting Classifications	CA024325	rs_138704724	12 SubmittersRCV000147417 RCV000247824 RCV000285029 RCV000380122 RCV000323206 RCV000377071 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	Criteria Provided Conflicting Classifications	CA024401	rs_559581937	6 SubmittersRCV000147421 RCV001237337 RCV003338423
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser)	SNV Germline	Chr19:38483476	Conflicting classifications of pathogenicity	not specified Malignant hypothermia Multiminicore myopathy Central core myopathy RYR1-related disorder Condition: not provided Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA024469	rs_76537615	9 SubmittersRCV000147430 RCV000239106 RCV000282746 RCV000298179 RCV000553661 RCV001288364 RCV000342522 RCV000394130
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	SNV Germline	Chr19:38496466	Conflicting classifications of pathogenicity	Condition: not provided Multi-minicore disease and atypical periodic paralysis 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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA024643	rs_200563280	23 SubmittersRCV000147436 RCV000148787 RCV000171129 RCV000178453 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	SNV Germline	Chr19:38516111	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Fetal akinesia deformation sequence 1 Arthrogryposis multiplex congenita Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA024994	rs_587784379	7 SubmittersRCV000147451 RCV001036190 RCV000855485 RCV001004921 RCV003998165
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	SNV Germline	Chr19:38459253	Conflicting classifications of pathogenicity	Myopathy, RYR1-associated not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided Inborn genetic diseases Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA024341	rs_147320363	17 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)	SNV Germline	Chr19:38517386	Conflicting classifications of pathogenicity	Axial myopathy, late-onset Malignant hyperthermia of anesthesia not specified Central core myopathy Multiminicore myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024999	rs_200950673	9 SubmittersRCV000148800 RCV000287628 RCV000281816 RCV000323995 RCV000378617 RCV000382036 RCV000725266 RCV000990203 RCV001084344
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	SNV Germline	Chr19:38543420	Pathogenic/Likely pathogenic	Congenital myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Multiple Submitters No Conflicts	CA023934	rs_377178986	9 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=)	SNV Germline	Chr19:38483460	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided not specified RYR1-related disorder Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024464	rs_369466056	4 SubmittersRCV000288457 RCV000382933 RCV000721563 RCV000254093 RCV001085788 RCV000348149 RCV000394118
NM_000540.3(RYR1):c.12283-7C>T	SNV Germline	Chr19:38561106	Conflicting classifications of pathogenicity	not specified Central core myopathy Condition: not provided RYR1-related disorder Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA023977	rs_143861818	10 SubmittersRCV000153872 RCV000321998 RCV000513533 RCV001081922 RCV000271306 RCV000325376 RCV000384640
NM_000540.3(RYR1):c.2319C>T (p.Asp773=)	SNV Germline	Chr19:38459297	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 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024345	rs_374924686	6 SubmittersRCV000271334 RCV000382164 RCV000328927 RCV000385851 RCV000721447 RCV001080983
NM_000540.3(RYR1):c.271-7C>G	SNV Germline	Chr19:38443551	Conflicting classifications of pathogenicity	not specified Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024366	rs_192495718	7 SubmittersRCV000241987 RCV000269477 RCV000273582 RCV000329250 RCV000368221 RCV000513860 RCV001257051
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=)	SNV Germline	Chr19:38502967	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy not specified Condition: not provided Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024874	rs_142558977	8 SubmittersRCV000282044 RCV000335516 RCV000337138 RCV000245786 RCV000721683 RCV000408287 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 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA024923	rs_144777676	7 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 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024978	rs_61739911	6 SubmittersRCV000280267 RCV000283860 RCV000337639 RCV000407782 RCV000721737 RCV001081180
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=)	SNV Germline	Chr19:38543564	Conflicting classifications of pathogenicity	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA023939	rs_794727946	4 SubmittersRCV000180427 RCV002500520 RCV001852247 RCV003996587
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)	SNV Germline	Chr19:38561329	Pathogenic/Likely pathogenic	Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA023986	rs_772494345	4 SubmittersRCV000721273 RCV002492793 RCV003591696
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=)	SNV Germline	Chr19:38565378	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications	CA024031	rs_794727985	4 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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024020	rs_539194350	6 SubmittersRCV000180737 RCV000286783 RCV000341804 RCV000400216 RCV000721299 RCV000376367 RCV001085625
NM_000540.3(RYR1):c.14130-8C>G	SNV Germline	Chr19:38575911	Conflicting classifications of pathogenicity	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA024106	rs_140808099	7 SubmittersRCV000180763 RCV000308235 RCV000272964 RCV000400439 RCV000365160 RCV001080447 RCV000542341
NM_000540.3(RYR1):c.3301G>A (p.Val1101Met)	SNV Germline	Chr19:38467732	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA024393	rs_145088074	4 SubmittersRCV000182605 RCV000785928 RCV003996724 RCV001852321
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 Central core myopathy Malignant hyperthermia of anesthesia 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	10 SubmittersRCV000203140 RCV000272384 RCV000326085 RCV000329734 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 RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA023962	rs_794728696	8 SubmittersRCV000210653 RCV000542897 RCV000721259 RCV002288788 RCV003147380 RCV003114333
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 Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 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	Criteria Provided Conflicting Classifications	CA024278	rs_368874586	7 SubmittersRCV000210545 RCV000721408 RCV000793270 RCV001449967 RCV002051687 RCV004556761
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	6 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 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA061474	rs_536148030	4 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907
NM_000540.3(RYR1):c.725+6G>A	SNV Germline	Chr19:38446571	Conflicting classifications of pathogenicity	Malignant hypothermia Congenital multicore myopathy with external ophthalmoplegia not specified Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069403	rs_201679831	10 SubmittersRCV000202682 RCV000343659 RCV000252878 RCV000286450 RCV000378557 RCV000381967 RCV000721647 RCV001082010
NM_000540.3(RYR1):c.89A>T (p.Glu30Val)	SNV Germline	Chr19:38440788	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073030	rs_145771708	6 SubmittersRCV000209972 RCV000296805 RCV000351450 RCV000399849 RCV000721723 RCV001086341
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)	SNV Germline	Chr19:38464674	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA064079	rs_748568687	9 SubmittersRCV000210019 RCV000210634 RCV000298912 RCV000302588 RCV000357405 RCV000538947 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 Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA071016	rs_148041292	8 SubmittersRCV000209968 RCV000678749 RCV000765449 RCV000800203 RCV001356636
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys)	SNV Germline	Chr19:38536758	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Myalgia Exercise-induced myalgia Elevated circulating creatine kinase concentration 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	5 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195
NM_000540.3(RYR1):c.1438G>A (p.Glu480Lys)	SNV Germline	Chr19:38453012	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA10575982	rs_878854375	2 SubmittersRCV000231682 RCV000721364
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	SNV Germline	Chr19:38458154	Pathogenic	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16616833	rs_878854365	4 SubmittersRCV000550931 RCV001782728 RCV002500828
NM_000540.3(RYR1):c.10347+1G>A	SNV Germline	Chr19:38523116	Conflicting classifications of pathogenicity	Inborn genetic diseases 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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA053108	rs_111436401	9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320
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 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA063447	rs_532101469	4 SubmittersRCV000252952 RCV000304675 RCV000358107 RCV000404669 RCV000363985 RCV000655678
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 Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA063753	rs_201498416	6 SubmittersRCV000242463 RCV000294208 RCV000330535 RCV000290802 RCV000385226 RCV000721471 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 Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064432	rs_145434723	7 SubmittersRCV000249519 RCV000288869 RCV000343812 RCV000721487 RCV000383257 RCV000399586 RCV001084156
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)	SNV Germline	Chr19:38467812	Conflicting classifications of pathogenicity	not specified Multiminicore myopathy Malignant hyperthermia of anesthesia Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA064758	rs_200780880	7 SubmittersRCV000250679 RCV000282896 RCV000340280 RCV000379896 RCV000397188 RCV000559351 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 Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy Central core myopathy Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA065904	rs_368108496	6 SubmittersRCV000250307 RCV000301431 RCV000304590 RCV000336036 RCV000399614 RCV000513035 RCV001083634 RCV003514335
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=)	SNV Germline	Chr19:38478468	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	CA10587311	rs_886038331	4 SubmittersRCV000252142 RCV001122764 RCV001122763 RCV001128461 RCV002057382
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=)	SNV Germline	Chr19:38483056	Conflicting classifications of pathogenicity	not specified Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA066336	rs_200600174	4 SubmittersRCV000243315 RCV000292256 RCV000351827 RCV000395496 RCV000386558 RCV001487929
NM_000540.3(RYR1):c.4971C>T (p.Asp1657=)	SNV Germline	Chr19:38485626	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	Criteria Provided Conflicting Classifications	CA066559	rs_141107290	7 SubmittersRCV000301244 RCV000367615 RCV000353072 RCV000398418 RCV000721570 RCV001082011
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)	SNV Germline	Chr19:38499242	Conflicting classifications of pathogenicity	not specified RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA068977	rs_202061237	6 SubmittersRCV000249710 RCV000691898 RCV001125453 RCV000721630 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	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	Criteria Provided Conflicting Classifications	CA054019	rs_368360689	6 SubmittersRCV000248525 RCV000287336 RCV000283830 RCV000378251 RCV000323697 RCV000721204 RCV001079516
NM_000540.3(RYR1):c.10938-9C>T	SNV Germline	Chr19:38528590	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA055430	rs_201976186	7 SubmittersRCV000247423 RCV000305186 RCV000345117 RCV000306574 RCV000407981 RCV001079163 RCV000721217
NM_000540.3(RYR1):c.11260-13C>T	SNV Germline	Chr19:38534707	Conflicting classifications of pathogenicity	not specified Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA056599	rs_540088883	4 SubmittersRCV000243303 RCV001131438 RCV001131437 RCV001131439 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 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA056930	rs_369650355	4 SubmittersRCV000246426 RCV000279931 RCV000351142 RCV000312561 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	Criteria Provided Conflicting Classifications	CA061956	rs_2229149	5 SubmittersRCV000241903 RCV000277489 RCV000308165 RCV000332546 RCV000362889 RCV001080361
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp)	SNV Germline	Chr19:38527014	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Condition: not provided RYR1-related disorder Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA054285	rs_536304635	10 SubmittersRCV000280179 RCV000338681 RCV000335257 RCV000398390 RCV000656969 RCV000818112 RCV001266921 RCV001731554
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	not specified 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	CA068516	rs_149185729	8 SubmittersRCV000264217 RCV000261115 RCV000284219 RCV000316380 RCV000378714 RCV000721620 RCV001078963
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 Multiminicore myopathy Condition: not provided Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10605744	rs_867851900	5 SubmittersRCV000296266 RCV000344212 RCV000388448 RCV000721315 RCV000400884 RCV000549654
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=)	SNV Germline	Chr19:38485635	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Condition: not provided RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA066575	rs_374115286	5 SubmittersRCV001123942 RCV000721571 RCV001081976 RCV001123941 RCV001123943
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys)	SNV Germline	Chr19:38473649	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Condition: not provided Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA065501	rs_777049924	7 SubmittersRCV000273611 RCV000313458 RCV000370505 RCV000657029 RCV000331017 RCV000655552
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 not specified Condition: not provided RYR1-related disorder Central core myopathy	Criteria Provided Conflicting Classifications	CA064824	rs_201599911	6 SubmittersRCV000281594 RCV000313376 RCV000334540 RCV000439132 RCV000721494 RCV001079903 RCV000401348
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	Criteria Provided Conflicting Classifications	CA064990	rs_377282283	3 SubmittersRCV000281517 RCV000320067 RCV000320847 RCV000378330 RCV001298574 RCV001552285
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	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	CA065960	rs_370851779	5 SubmittersRCV000276785 RCV000272279 RCV000327130 RCV000381702 RCV003114490 RCV003129833
NM_000540.3(RYR1):c.4481T>C (p.Val1494Ala)	SNV Germline	Chr19:38478461	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	CA066143	rs_767928113	4 SubmittersRCV000270553 RCV000306888 RCV000364887 RCV000369799 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	3 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 Congenital multicore myopathy with external ophthalmoplegia Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA067063	rs_772422894	2 SubmittersRCV000295445 RCV000308529 RCV000395346 RCV000352631 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 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA067726	rs_201310026	3 SubmittersRCV000267358 RCV000322444 RCV000377017 RCV000371454 RCV000547971
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=)	SNV Germline	Chr19:38494395	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia of anesthesia RYR1-related disorder Multiminicore myopathy	Criteria Provided Conflicting Classifications	CA068067	rs_769443054	2 SubmittersRCV000351067 RCV000386877 RCV000292503 RCV000655691 RCV000296149
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 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA068218	rs_530885842	4 SubmittersRCV000275501 RCV000281444 RCV000330565 RCV000375920 RCV001795948 RCV001368607
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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069019	rs_369342449	2 SubmittersRCV000295398 RCV000350300 RCV000386259 RCV000389566 RCV003757170
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=)	SNV Germline	Chr19:38500912	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 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069757	rs_368560744	6 SubmittersRCV000272030 RCV000329583 RCV000320313 RCV000359718 RCV000655719 RCV001085945
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 Condition: not provided Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA073259	rs_200797340	5 SubmittersRCV000289050 RCV000346443 RCV000381209 RCV001660679 RCV003995872 RCV000384648 RCV000655514
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 Condition: not provided RYR1-related disorder Malignant hyperthermia of anesthesia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073441	rs_56338790	6 SubmittersRCV000265326 RCV000268916 RCV000721733 RCV001087825 RCV000304062 RCV000361218 RCV003995873
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=)	SNV Germline	Chr19:38523228	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Condition: not provided Multiminicore myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA053293	rs_376830015	3 SubmittersRCV000275472 RCV000330605 RCV000369963 RCV000721200 RCV000315315 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 Malignant hyperthermia of anesthesia Multiminicore myopathy RYR1-related disorder Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA057084	rs_151239950	3 SubmittersRCV000306797 RCV000364857 RCV000391757 RCV001050295 RCV000363542 RCV003514351
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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10642763	rs_886054405	2 SubmittersRCV000290164 RCV000326773 RCV000384595 RCV000340398 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 RYR1-related disorder Malignant hyperthermia of anesthesia	Criteria Provided Conflicting Classifications	CA059539	rs_758223017	2 SubmittersRCV000277297 RCV000313598 RCV000363576 RCV003757174 RCV000366875
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 Neuromuscular disease, congenital, with uniform type 1 fiber Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA059625	rs_543458339	3 SubmittersRCV000285745 RCV000321065 RCV000380159 RCV000336119 RCV000655645 RCV002225586
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)	SNV Germline	Chr19:38578028	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	CA061035	rs_201157293	5 SubmittersRCV000339321 RCV000345135 RCV000310165 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 Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Multiminicore myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA066968	rs_754569485	2 SubmittersRCV000280476 RCV000340557 RCV000374886 RCV000390244 RCV003757168
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 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	CA10648631	rs_886054385	3 SubmittersRCV000262875 RCV000317939 RCV000292316 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 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA065813	rs_2229141	7 SubmittersRCV000288850 RCV000333270 RCV000347977 RCV000387872 RCV001088328 RCV000721530
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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA068150	rs_201649680	2 SubmittersRCV000303533 RCV000358367 RCV000398295 RCV000393407 RCV003320631
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=)	SNV Germline	Chr19:38496317	Conflicting classifications of pathogenicity	Neuromuscular disease, congenital, with uniform type 1 fiber Central core myopathy Malignant hyperthermia of anesthesia RYR1-related disorder Multiminicore myopathy	Criteria Provided Conflicting Classifications	CA068509	rs_371006370	2 SubmittersRCV000273945 RCV000355962 RCV000368727 RCV000868600 RCV000319895
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 Malignant hyperthermia of anesthesia Central core myopathy RYR1-related disorder Multiminicore myopathy	Criteria Provided Conflicting Classifications	CA070814	rs_777420696	2 SubmittersRCV000265194 RCV000355376 RCV000379531 RCV002057507 RCV000320354
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 Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA072075	rs_761622550	2 SubmittersRCV000266825 RCV000326628 RCV000361260 RCV000362543 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 Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA072142	rs_140171924	2 SubmittersRCV000272700 RCV000292819 RCV000327865 RCV000387044 RCV002521223
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	3 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	3 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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA052950	rs_778171066	3 SubmittersRCV000299463 RCV000354208 RCV000403332 RCV000391270 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 Neuromuscular disease, congenital, with uniform type 1 fiber Multiminicore myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA10648646	rs_886054401	3 SubmittersRCV000276753 RCV000315425 RCV000366856 RCV000354968 RCV001506741 RCV003995875
NM_000540.3(RYR1):c.12219T>A (p.Ser4073=)	SNV Germline	Chr19:38548357	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	Criteria Provided Conflicting Classifications	CA058467	rs_764395582	2 SubmittersRCV000273946 RCV000270290 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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA063415	rs_200893443	7 SubmittersRCV000311307 RCV000347451 RCV000336109 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 Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA063690	rs_375402078	3 SubmittersRCV000263941 RCV000304164 RCV000319110 RCV000358911 RCV001718687 RCV000556795
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	3 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 RYR1-related disorder Malignant hyperthermia of anesthesia Central core myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA064318	rs_143891703	3 SubmittersRCV000267444 RCV000303829 RCV001483259 RCV000358587 RCV000362093 RCV000841631
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=)	SNV Germline	Chr19:38466343	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA10651846	rs_569565316	2 SubmittersRCV000300767 RCV000340438 RCV000304081 RCV001444339 RCV000398910
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	Criteria Provided Conflicting Classifications	CA069555	rs_199813873	4 SubmittersRCV000262130 RCV000311415 RCV000368469 RCV000397588 RCV000872671 RCV003995869
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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069615	rs_758872814	2 SubmittersRCV000284595 RCV000327926 RCV000384750 RCV000379912 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 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA069727	rs_375997435	5 SubmittersRCV000288054 RCV000296496 RCV000345553 RCV000390664 RCV001207649 RCV001093149
NM_000540.3(RYR1):c.7927-7C>T	SNV Germline	Chr19:38504213	Conflicting classifications of pathogenicity	Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber Congenital multicore myopathy with external ophthalmoplegia not specified Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651865	rs_886054395	3 SubmittersRCV000302093 RCV000403061 RCV000361454 RCV000714855 RCV000405078 RCV002521222
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=)	SNV Germline	Chr19:38504762	Conflicting classifications of pathogenicity	Multiminicore myopathy Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia of anesthesia Neuromuscular disease, congenital, with uniform type 1 fiber	Criteria Provided Conflicting Classifications	CA071465	rs_745619519	3 SubmittersRCV000285086 RCV000339139 RCV000655606 RCV003995870 RCV000344865 RCV000379609
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	2 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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10651880	rs_141542477	2 SubmittersRCV000263466 RCV000265489 RCV000375297 RCV000320643 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 Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder	Criteria Provided Conflicting Classifications	CA055308	rs_760754746	3 SubmittersRCV000293881 RCV000346406 RCV000407973 RCV000385840 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 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA056181	rs_370928637	2 SubmittersRCV000285706 RCV000343029 RCV000391397 RCV000382513 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	Criteria Provided Conflicting Classifications	CA056848	rs_757745087	3 SubmittersRCV000286552 RCV000320535 RCV000326225 RCV000378623 RCV001435330
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 Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder Central core myopathy	Criteria Provided Conflicting Classifications	CA060823	rs_546280470	2 SubmittersRCV000314047 RCV000352552 RCV000349023 RCV000861778 RCV000399675
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	3 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 Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA061510	rs_773080803	6 SubmittersRCV000289632 RCV000328355 RCV000385235 RCV000415618 RCV000868705 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	7 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	Criteria Provided Conflicting Classifications	CA064089	rs_576990255	4 SubmittersRCV000273622 RCV000288806 RCV000328415 RCV000383044 RCV000868274
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 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064092	rs_761045773	4 SubmittersRCV000285525 RCV000325076 RCV000379932 RCV000340381 RCV002057505
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)	SNV Germline	Chr19:38477722	Conflicting classifications of pathogenicity	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Neuromuscular disease, congenital, with uniform type 1 fiber Condition: not provided RYR1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA065927	rs_200289457	10 SubmittersRCV000275614 RCV000312053 RCV000371141 RCV000356178 RCV000513329 RCV000526894 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 RYR1-related disorder Central core myopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA068464	rs_375640581	4 SubmittersRCV000283795 RCV000348050 RCV000397482 RCV001086765 RCV000403740 RCV000721618
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 Malignant hyperthermia of anesthesia Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA069079	rs_748167551	2 SubmittersRCV000282587 RCV000298057 RCV000337664 RCV000405178 RCV000878714
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 Central core myopathy Neuromuscular disease, congenital, with uniform type 1 fiber RYR1-related disorder not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA072631	rs_368684717	6 SubmittersRCV000284518 RCV000341911 RCV000391685 RCV000376679 RCV001087983 RCV000502645 RCV000721716
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 Central core myopathy Multiminicore myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA10652422	rs_571477269	2 SubmittersRCV000287574 RCV000344848 RCV000378552 RCV000384274 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 not specified Condition: not provided RYR1-related disorder	Criteria Provided Conflicting Classifications	CA059752	rs_748743312	6 SubmittersRCV000271016 RCV000302764 RCV000357600 RCV000363198 RCV000501104 RCV000727521 RCV001088212
NM_000540.3(RYR1):c.13998+3G>A	SNV Germline	Chr19:38572273	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 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	CA060696	rs_765404523	4 SubmittersRCV000279016 RCV000282567 RCV000336443 RCV000374610 RCV001323430 RCV002487452
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val)	SNV Germline	Chr19:38473726	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion not specified	Criteria Provided Conflicting Classifications	CA065572	rs_370966353	11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948
NM_000540.3(RYR1):c.3381+5G>A	SNV Germline	Chr19:38467817	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA064755	rs_199691436	3 SubmittersRCV000422889 RCV004000367 RCV002226708
NM_000540.3(RYR1):c.7835+1G>A	SNV Germline	Chr19:38502728	Likely pathogenic	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Multiple Submitters No Conflicts	CA16607795	rs_1057524858	3 SubmittersRCV000442837 RCV001865407 RCV002488988
NM_000540.3(RYR1):c.6549-9C>T	SNV Germline	Chr19:38496206	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA068423	rs_370994573	4 SubmittersRCV000655697 RCV001127015 RCV001127017 RCV001127016 RCV001721301
NM_000540.3(RYR1):c.11590+1G>T	SNV Germline	Chr19:38536071	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy 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 Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications	CA068419	rs_756593088	5 SubmittersRCV000454540 RCV001127442 RCV001127018 RCV001127441 RCV001865413
NM_000540.3(RYR1):c.4160+1G>A	SNV Germline	Chr19:38473772	Likely pathogenic	Hypotonia Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA405643333	rs_113460156	3 SubmittersRCV000490681 RCV002489200 RCV003757181
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 Malignant hyperthermia, susceptibility to, 1 Central core myopathy	Criteria Provided Conflicting Classifications	CA073816	rs_756331568	7 SubmittersRCV000504175 RCV000721749 RCV001221339 RCV001829435 RCV004003530 RCV003992308
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=)	SNV Germline	Chr19:38467683	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications	CA064615	rs_144164620	3 SubmittersRCV000512747 RCV001125027 RCV001125025 RCV001125026 RCV001089334
NM_000540.3(RYR1):c.9472+1G>A	SNV Germline	Chr19:38512484	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA073621	rs_776697656	6 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622
NM_000540.3(RYR1):c.14129+1G>A	SNV Germline	Chr19:38573308	Likely pathogenic	Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Central core myopathy	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 King Denborough syndrome Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA066462	rs_776194441	5 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	SNV Germline	Chr19:38585967	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405692312	rs_1432807966	6 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490
NM_000540.3(RYR1):c.13477C>G (p.Pro4493Ala)	SNV Germline	Chr19:38566950	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA059891	rs_149455643	5 SubmittersRCV000551114 RCV000764199 RCV000623122 RCV001797108
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=)	SNV Germline	Chr19:38573248	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA060795	rs_113058779	5 SubmittersRCV001078943 RCV000827374 RCV002497201 RCV003999489
NM_000540.3(RYR1):c.5287C>T (p.Pro1763Ser)	SNV Germline	Chr19:38485942	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 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 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	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	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications	CA061519	rs_770698609	3 SubmittersRCV000552120 RCV001134675 RCV001134676 RCV001134677
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	SNV Germline	Chr19:38444167	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 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 Conflicting Classifications	CA066047	rs_151325948	8 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV003514380 RCV002497264
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 Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications	CA061382	rs_763954439	5 SubmittersRCV000721379 RCV001132277 RCV001132278 RCV001132279 RCV001081890
NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	SNV Germline	Chr19:38452838	Conflicting classifications of pathogenicity	Myalgia Exercise-induced myalgia Elevated circulating creatine kinase concentration Congenital myopathy with fiber type disproportion RYR1-related disorder Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1	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 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA074223	rs_752199191	8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser)	SNV Germline	Chr19:38499954	Conflicting classifications of pathogenicity	RYR1-related disorder Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069413	rs_193922808	6 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	SNV Germline	Chr19:38452824	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia See cases Malignant hyperthermia, susceptibility to, 1 Myopathy, RYR1-associated	Criteria Provided Conflicting Classifications	CA059053	rs_764262446	8 SubmittersRCV000655525 RCV000658830 RCV001729679 RCV002250674 RCV003334390 RCV004004138 RCV004525996
NM_000540.3(RYR1):c.6664-2A>G	SNV Germline	Chr19:38496407	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA405666150	rs_1346257891	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 Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA069011	rs_536596969	4 SubmittersRCV000655584 RCV000754734 RCV003238799 RCV004004153
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 multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA074235	rs_201276068	5 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.7836-1G>A	SNV Germline	Chr19:38502879	Likely pathogenic	Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1568507354	3 SubmittersRCV000678325 RCV002493120 RCV003591771
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	SNV Germline	Chr19:38442391	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion Central core myopathy King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		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 Condition: not provided Central core myopathy	Criteria Provided Conflicting Classifications		rs_1568440962	4 SubmittersRCV000689574 RCV003133523 RCV002286779
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	Criteria Provided Conflicting Classifications		rs_150977342	5 SubmittersRCV000699049 RCV001331318 RCV003130009 RCV004026463
NM_000540.3(RYR1):c.14869-5C>G	SNV Germline	Chr19:38586086	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications		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 King Denborough syndrome 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	Criteria Provided Conflicting Classifications		rs_146754847	6 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596
NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	SNV Germline	Chr19:38477860	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1 King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_747718728	6 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595
NM_000540.3(RYR1):c.2287G>A (p.Val763Met)	SNV Germline	Chr19:38459265	Conflicting classifications of pathogenicity	Condition: not provided King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_369947687	4 SubmittersRCV000721445 RCV002493286 RCV002533063
NM_000540.3(RYR1):c.5314A>G (p.Arg1772Gly)	SNV Germline	Chr19:38485969	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion	Criteria Provided Conflicting Classifications		rs_1568484835	4 SubmittersRCV000721586 RCV001036189 RCV002493289
NM_000540.3(RYR1):c.9001-15C>A	SNV Germline	Chr19:38510645	Conflicting classifications of pathogenicity	Condition: not provided King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_372702492	4 SubmittersRCV000721725 RCV002485829 RCV003768164 RCV003999866
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		rs_1568524980	2 SubmittersRCV000721744 RCV001126328 RCV001126329 RCV001126330
NM_000540.3(RYR1):c.9892G>A (p.Ala3298Thr)	SNV Germline	Chr19:38517565	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications		rs_544339193	4 SubmittersRCV000721762 RCV001312367 RCV002485830
NM_000540.3(RYR1):c.13180G>A (p.Glu4394Lys)	SNV Germline	Chr19:38565514	Conflicting classifications of pathogenicity	Condition: not provided RYR1-related disorder King Denborough syndrome Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_748844266	6 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924
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		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 King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1189024951	6 SubmittersRCV000721355 RCV000814221 RCV002499325 RCV003999821
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	Criteria Provided Multiple Submitters No Conflicts		rs_1568614042	3 SubmittersRCV000721411 RCV000785960 RCV001206699
NM_000540.3(RYR1):c.9633C>A (p.Asn3211Lys)	SNV Germline	Chr19:38516165	Likely pathogenic	Central core myopathy	No Assertion Criteria Provided		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		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	Criteria Provided Multiple Submitters No Conflicts		rs_1332371891	2 SubmittersRCV000754733 RCV002536549
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		rs_1278804520	2 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		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		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		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 Condition: not provided Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications		rs_202105428	5 SubmittersRCV000805637 RCV001125553 RCV001310399 RCV001125551 RCV001125552
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)	SNV Germline	Chr19:38466204	Conflicting classifications of pathogenicity	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 Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1440262870	4 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735
NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)	SNV Germline	Chr19:38494522	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_776830747	6 SubmittersRCV000813191 RCV001729710 RCV003132080 RCV004001749
NM_000540.3(RYR1):c.14667C>A (p.Tyr4889Ter)	SNV Germline	Chr19:38584963	Pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_193922887	2 SubmittersRCV000801582 RCV000853348
NM_000540.3(RYR1):c.2290C>T (p.Gln764Ter)	SNV Germline	Chr19:38459268	Pathogenic/Likely pathogenic	Central core myopathy RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_371455345	2 SubmittersRCV000825544 RCV001383922
NM_000540.3(RYR1):c.46-4G>A	SNV Germline	Chr19:38440741	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 Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_201094741	4 SubmittersRCV004002997 RCV002487901 RCV000867181
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		rs_915321867	3 SubmittersRCV001126225 RCV001126226 RCV001126227 RCV001402423
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	SNV Germline	Chr19:38458169	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided RYR1-related disorder Central core myopathy Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_776252106	6 SubmittersRCV001004922 RCV002305557 RCV001862742 RCV002479200 RCV004004475
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	SNV Germline	Chr19:38458108	Conflicting classifications of pathogenicity	RYR1-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1305971341	5 SubmittersRCV001058792 RCV001784614 RCV002505620 RCV004000105
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)	SNV Germline	Chr19:38505340	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_767805554	5 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His)	SNV Germline	Chr19:38580091	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Condition: not provided	Criteria Provided Conflicting Classifications		rs_193922875	3 SubmittersRCV001040954 RCV002481884 RCV003130110
NM_000540.3(RYR1):c.10824+8G>A	SNV Germline	Chr19:38527792	Conflicting classifications of pathogenicity	RYR1-related disorder Central core myopathy Congenital myopathy with fiber type disproportion King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications		rs_374325589	2 SubmittersRCV001034975 RCV002489536
NM_000540.3(RYR1):c.14447A>G (p.Asp4816Gly)	SNV Germline	Chr19:38580064	Pathogenic	Central core myopathy	Criteria Provided Single Submitter		rs_1974129338	1 SubmittersRCV001260939
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		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		rs_144067910	3 SubmittersRCV001125256 RCV001125257 RCV001126230 RCV001410297
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=)	SNV Germline	Chr19:38517405	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Central core myopathy Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_764290955	2 SubmittersRCV001128469 RCV001128467 RCV001128468 RCV002558261
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=)	SNV Germline	Chr19:38517558	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		rs_776468955	2 SubmittersRCV001123859 RCV001126499 RCV001123860 RCV002070021
NM_000540.3(RYR1):c.10656T>C (p.Phe3552=)	SNV Germline	Chr19:38527022	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Conflicting Classifications		rs_1971495978	2 SubmittersRCV001124050 RCV001124052 RCV001124051
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		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		rs_763353979	4 SubmittersRCV001126334 RCV001128376 RCV001128377 RCV002070065 RCV003490081
NM_000540.3(RYR1):c.9555-4C>T	SNV Germline	Chr19:38516083	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_1417337927	2 SubmittersRCV001122655 RCV001122654 RCV001122656 RCV001856618
NM_000540.3(RYR1):c.10441-8T>C	SNV Germline	Chr19:38523907	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital multicore myopathy with external ophthalmoplegia RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_755330618	3 SubmittersRCV001126619 RCV001126620 RCV001126621 RCV003757216
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=)	SNV Germline	Chr19:38543363	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		rs_776123178	3 SubmittersRCV001128887 RCV001128886 RCV001131555 RCV003757218
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=)	SNV Germline	Chr19:38565174	Conflicting classifications of pathogenicity	Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1 Central core myopathy RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_1292456827	3 SubmittersRCV001129123 RCV001129124 RCV001129125 RCV001406467
NM_000540.3(RYR1):c.7029C>T (p.Gly2343=)	SNV Germline	Chr19:38499636	Conflicting classifications of pathogenicity	RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Conflicting Classifications		rs_138617219	2 SubmittersRCV001217935 RCV002504268
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter)	SNV Germline	Chr19:38502902	Pathogenic	Condition: not provided RYR1-related disorder King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 Central core myopathy Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia Central core myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1365856881	4 SubmittersRCV001780144 RCV001219907 RCV002491686 RCV003156321
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter)	SNV Germline	Chr19:38523927	Pathogenic	RYR1-related disorder Condition: not provided Central core myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_199895006	3 SubmittersRCV001227328 RCV001780158 RCV003989647
NM_000540.3(RYR1):c.14701G>A (p.Glu4901Lys)	SNV Germline	Chr19:38584997	Likely pathogenic	Central core myopathy Congenital multicore myopathy with external ophthalmoplegia	Criteria Provided Single Submitter		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		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		rs_146514343	3 SubmittersRCV001332541 RCV004005141 RCV003989686
NM_000540.3(RYR1):c.1593C>T (p.Gly531=)	SNV Germline	Chr19:38455467	Conflicting classifications of pathogenicity	Central core myopathy RYR1-related disorder Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_927675372	4 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	SNV Germline	Chr19:38458238	Conflicting classifications of pathogenicity	Central core myopathy Condition: not provided Central core myopathy Malignant hyperthermia, susceptibility to, 1 Congenital myopathy with fiber type disproportion Congenital multicore myopathy with external ophthalmoplegia King Denborough syndrome Malignant hyperthermia, susceptibility to, 1 RYR1-related disorder	Criteria Provided Conflicting Classifications		rs_565825739	6 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV004005144 RCV003591856
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 Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_919322708	3 SubmittersRCV001370546 RCV002488164 RCV003235565
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	Criteria Provided Conflicting Classifications		rs_575446156	3 SubmittersRCV001363484 RCV001773721 RCV002291505
NM_000540.3(RYR1):c.10347C>T (p.His3449=)	SNV Germline	Chr19:38523115	Conflicting classifications of pathogenicity	RYR1-related disorder Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with fiber type disproportion King Denborough syndrome Central core myopathy Malignant hyperthermia, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_373702420	3 SubmittersRCV001370548 RCV002504621 RCV004006823
NM_000540.3(RYR1):c.3485C>T (p.Thr1162Ile)	SNV Germline	Chr19:38469069	Pathogenic	Central core myopathy	Criteria Provided Single Submitter		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		rs_1377668924	2 SubmittersRCV001530192 RCV001873747
NM_000540.3(RYR1):c.14364+1G>A	SNV Germline	Chr19:38578205	Pathogenic/Likely pathogenic	Condition: not provided RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1974046221	3 SubmittersRCV001531894 RCV003757223 RCV004017845
NM_000540.3(RYR1):c.8310+1G>T	SNV Germline	Chr19:38505082	Conflicting classifications of pathogenicity	Condition: not provided Central core myopathy RYR1-related disorder Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1970380121	4 SubmittersRCV001663366 RCV001775179 RCV003757225 RCV004008957
NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser)	SNV Germline	Chr19:38580449	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter		rs_118192146	1 SubmittersRCV001829286
NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)	SNV Germline	Chr19:38585945	Likely pathogenic	Central core myopathy RYR1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2145917373	2 SubmittersRCV001829287 RCV002034691
NM_000540.3(RYR1):c.14130-2A>G	SNV Germline	Chr19:38575917	Conflicting classifications of pathogenicity	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 Condition: not provided Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1457662393	4 SubmittersRCV001941795 RCV002497871 RCV003325593 RCV004010985
NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)	SNV Germline	Chr19:38580040	Likely pathogenic	RYR1-related disorder Central core myopathy	Criteria Provided Multiple Submitters No Conflicts		rs_1274780855	2 SubmittersRCV002035647 RCV002283577
NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)	SNV Germline	Chr19:38543372	Likely pathogenic	Central core myopathy	No Assertion Criteria Provided			1 SubmittersRCV002281653
NM_000540.3(RYR1):c.2168-1G>A	SNV Germline	Chr19:38459145	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			1 SubmittersRCV002284047
NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)	SNV Germline	Chr19:38580454	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			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			2 SubmittersRCV003340598 RCV003064582
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			2 SubmittersRCV002635880 RCV003988015
NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)	SNV Germline	Chr19:38517583	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			1 SubmittersRCV003335792
NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)	SNV Unknown	Chr19:38580055	Likely pathogenic	Central core myopathy	No Assertion Criteria Provided			1 SubmittersRCV003484986
NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)	SNV Germline	Chr19:38585938	Pathogenic	King Denborough syndrome Central core myopathy Congenital multicore myopathy with external ophthalmoplegia Malignant hyperthermia, susceptibility to, 1	Criteria Provided Single Submitter			1 SubmittersRCV003883301
NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)	SNV Germline	Chr19:38499975	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			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			2 SubmittersRCV004008065 RCV004018018
NM_000540.3(RYR1):c.1441-2A>G	SNV Germline	Chr19:38455233	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004018077
NM_000540.3(RYR1):c.2578-2A>G	SNV Germline	Chr19:38463421	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004018253
NM_000540.3(RYR1):c.7968C>A (p.Cys2656Ter)	SNV Germline	Chr19:38504261	Likely pathogenic	Central core myopathy	Criteria Provided Single Submitter			1 SubmittersRCV004018254

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

SNV
Germline

Chr19:38457545

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024311

rs_118192172

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

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

SNV
Germline

Chr19:38499997

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024750

rs_28933396

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

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

SNV
Germline

Chr19:38444211

Pathogenic; drug response

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

Reviewed By Expert Panel

CA018598

rs_118192161

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

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

SNV
Germline

Chr19:38499993

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024747

rs_121918593

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

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

SNV
Germline

Chr19:38500654

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024784

rs_28933397

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

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

SNV
Germline

Chr19:38494564

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024590

rs_118192175

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

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

SNV
Germline

Chr19:38494565

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024593

rs_118192163

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

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

SNV
Germline

Chr19:38494579

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024603

rs_118192176

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

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

Criteria Provided
Conflicting Classifications

CA024392

rs_118192173

15 SubmittersRCV000013860 RCV000119608 RCV000655512 RCV001199051 RCV002496350 RCV003447473 RCV003996093

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

SNV
Germline

Chr19:38499961

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024732

rs_118192174

10 SubmittersRCV000013861 RCV000415169 RCV001851835 RCV000119694 RCV001197410 RCV002504782 RCV003996094 RCV004017243

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

7 SubmittersRCV000210003 RCV000253393 RCV000300656 RCV000357829 RCV000404978 RCV000721732 RCV001086670

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

SNV
Germline

Chr19:38519399

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023822

rs_367543058

11 SubmittersRCV000034925 RCV000147397 RCV000233916 RCV000401146 RCV000529599 RCV003996181

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

SNV
Unknown

Chr19:38451846

Pathogenic

Congenital myopathy with fiber type disproportion
Condition: not provided
Central core myopathy

No Assertion Criteria Provided

CA023960

rs_118192117

2 SubmittersRCV000034926 RCV000119451 RCV000056214

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

SNV
Germline

Chr19:38523211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023836

rs_193922837

14 SubmittersRCV000119410 RCV000535801 RCV000624604 RCV001249074 RCV001775081 RCV003997313 RCV002477304

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

SNV
Unknown

Chr19:38565320

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024025

rs_118192129

2 SubmittersRCV000056171 RCV000119471

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

SNV
Germline

Chr19:38580395

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024167

rs_118192143

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
Single Submitter

CA024241

rs_118192153

4 SubmittersRCV000056173 RCV000119555 RCV002513729

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

SNV
Germline

Chr19:38572172

Pathogenic

Central core myopathy
Condition: not provided

Criteria Provided
Single Submitter

CA024076

rs_118192133

3 SubmittersRCV000056181 RCV000119486

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

SNV
Germline

Chr19:38585058

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA024251

rs_118192156

3 SubmittersRCV000056186 RCV000119560 RCV001854161

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

SNV
Germline

Chr19:38572184

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA024082

rs_118192136

3 SubmittersRCV000056190 RCV000119489 RCV000687662

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

SNV
Unknown

Chr19:38584967

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024215

rs_118192149

2 SubmittersRCV000056192 RCV000119544

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

SNV
Unknown

Chr19:38584986

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024231

rs_118192148

2 SubmittersRCV000056194 RCV000119551

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

SNV
Germline

Chr19:38584992

Pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Single Submitter

CA024237

rs_118192183

3 SubmittersRCV000056195 RCV000119554 RCV001382210

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

SNV
Germline

Chr19:38572224

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
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Reviewed By Expert Panel

CA024775

rs_118192123

5 SubmittersRCV000056200 RCV000119708 RCV001383435 RCV001588885

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

SNV
Unknown

Chr19:38527777

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA023862

rs_118192127

2 SubmittersRCV000056205 RCV000119419

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

SNV
Germline

Chr19:38570650

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024069

rs_118192131

4 SubmittersRCV000056206 RCV000119484 RCV001066791

NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)

SNV
Germline

Chr19:38572221

Likely pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA024091

rs_118192138

4 SubmittersRCV000056208 RCV000119493 RCV001039994

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

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024174

rs_118192144

2 SubmittersRCV000056216 RCV000119529

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

SNV
Germline

Chr19:38500636

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024770

rs_118192124

13 SubmittersRCV000056226 RCV000119706 RCV001787851 RCV001787852 RCV001787853 RCV001729374 RCV001787847 RCV001787849 RCV002281899 RCV000527240 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
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
sevoflurane response - Toxicity
succinylcholine response - Toxicity
desflurane response - Toxicity
halothane response - Toxicity
methoxyflurane response - Toxicity
enflurane response - Toxicity
isoflurane response - Toxicity

Reviewed By Expert Panel

CA024781

rs_118192122

15 SubmittersRCV000056227 RCV000119710 RCV000699835 RCV000709760 RCV001787859 RCV001787860 RCV001787854 RCV001787856 RCV001787858 RCV001787855 RCV001787857

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

SNV
Germline

Chr19:38500898

Likely pathogenic

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

Reviewed By Expert Panel

CA024819

rs_118192178

12 SubmittersRCV000056228 RCV000119718 RCV000552166 RCV000624571 RCV001198416 RCV001814037 RCV001731347 RCV002281900

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

SNV
Germline

Chr19:38506952

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024952

rs_118192125

4 SubmittersRCV000056229 RCV000119763 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
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1
Lynch syndrome 5

Criteria Provided
Conflicting Classifications

CA024150

rs_118192180

5 SubmittersRCV000056232 RCV000119518 RCV001854163 RCV003996488 RCV004555852

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

SNV
Unknown

Chr19:38584974

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024223

rs_118192151

2 SubmittersRCV000056234 RCV000119547

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

SNV
Germline

Chr19:38584973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024220

rs_118192150

8 SubmittersRCV000056236 RCV000119545 RCV001046476 RCV002496742 RCV003996489

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

SNV
Germline

Chr19:38585036

Pathogenic

Central core myopathy
Condition: not provided

Criteria Provided
Single Submitter

CA024242

rs_118192184

3 SubmittersRCV000056237 RCV000119556

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

SNV
Germline

Chr19:38585037

Pathogenic

Central core myopathy
Condition: not provided

Criteria Provided
Single Submitter

CA024244

rs_118192154

3 SubmittersRCV000056238 RCV000119557

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

SNV
Germline

Chr19:38572182

Pathogenic

Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA024080

rs_118192134

4 SubmittersRCV000056242 RCV000119488 RCV000536286

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

SNV
Unknown

Chr19:38585055

Pathogenic

Central core myopathy
Condition: not provided

No Assertion Criteria Provided

CA024246

rs_118192155

2 SubmittersRCV000056244 RCV000119558

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

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

Criteria Provided
Conflicting Classifications

CA023817

rs_140689610

12 SubmittersRCV000250990 RCV000308726 RCV000721187 RCV001080062 RCV000348497 RCV000344949 RCV000407628

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

SNV
Germline

Chr19:38565213

Conflicting classifications of pathogenicity

Condition: not provided
not specified
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
Malignant hyperthermia of anesthesia

Criteria Provided
Conflicting Classifications

CA024015

rs_193922854

13 SubmittersRCV000079126 RCV000252273 RCV000260031 RCV000355907 RCV000354942 RCV000415696 RCV001083097 RCV002051651

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

SNV
Germline

Chr19:38580122

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024159

rs_118126378

15 SubmittersRCV000259804 RCV000361747 RCV000304667 RCV000079132 RCV000721374 RCV000390273 RCV001082862

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

SNV
Germline

Chr19:38489266

Conflicting classifications of pathogenicity

Condition: not provided
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

CA024532

rs_143418190

6 SubmittersRCV000079153 RCV000280975 RCV000335107 RCV000286979 RCV000405493 RCV001088721

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

SNV
Germline

Chr19:38494436

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA024637

rs_146617004

6 SubmittersRCV000363070 RCV000308423 RCV000723593 RCV001087587 RCV000314006 RCV000397477

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

SNV
Germline

Chr19:38502629

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024844

rs_114975624

7 SubmittersRCV000079168 RCV000307589 RCV000329613 RCV000147443 RCV001079993 RCV000276971 RCV000369238

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

SNV
Germline

Chr16:3249032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA280388

rs_104895140

6 SubmittersRCV000083690 RCV001258254 RCV001711585 RCV003126423 RCV003126424

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

SNV
Germline

Chr19:38451753

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023902

rs_3745845

8 SubmittersRCV000119430 RCV000398335 RCV000280393 RCV000295802 RCV000243592 RCV000334467 RCV002055317

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
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Central core myopathy
not specified
See cases
RYR1-related myopathy

Criteria Provided
Conflicting Classifications

CA023938

rs_147136339

21 SubmittersRCV000119441 RCV000148797 RCV000655533 RCV000764196 RCV001331321 RCV003398723 RCV002251988 RCV003993810

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

SNV
Germline

Chr19:38451859

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

CA023973

rs_3745846

5 SubmittersRCV000119456 RCV000360290 RCV000303170 RCV000337884 RCV000391072 RCV001087365

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

SNV
Germline

Chr19:38440829

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024034

rs_193922748

11 SubmittersRCV000119473 RCV001238887 RCV001588936 RCV001787944 RCV001787945 RCV001787946 RCV001787947 RCV001787948 RCV001787950 RCV001787949 RCV003338417

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

SNV
Germline

Chr19:38577955

Pathogenic

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

Reviewed By Expert Panel

CA024118

rs_193922868

10 SubmittersRCV000119503 RCV003231155 RCV001380753 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

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

Reviewed By Expert Panel

CA024276

rs_146876145

21 SubmittersRCV000119571 RCV000148804 RCV000554319 RCV000605381 RCV001249254 RCV001729396 RCV002505053

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

SNV
Germline

Chr19:38455528

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024299

rs_193922770

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

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

SNV
Germline

Chr19:38457546

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024313

rs_193922772

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

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

SNV
Germline

Chr19:38458246

Conflicting classifications of pathogenicity

Condition: not provided
not specified
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

CA024329

rs_146104858

13 SubmittersRCV000119590 RCV000252771 RCV000288116 RCV000383723 RCV000291947 RCV000345447 RCV001085961

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

SNV
Germline

Chr19:38485838

Likely pathogenic

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

Reviewed By Expert Panel

CA024494

rs_193922781

14 SubmittersRCV000119633 RCV000148807 RCV001057054 RCV001449805 RCV001265978 RCV002505055

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

SNV
Germline

Chr19:38490249

Likely pathogenic

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

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

Reviewed By Expert Panel

CA024651

rs_193922797

12 SubmittersRCV000119670 RCV000185536 RCV000502398 RCV000691232 RCV002492409 RCV003323407

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

SNV
Germline

Chr19:38499670

Pathogenic; drug response

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

Reviewed By Expert Panel

CA024693

rs_193922803

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

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

SNV
Germline

Chr19:38499975

Likely pathogenic; drug response

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

Reviewed By Expert Panel

CA024738

rs_193922809

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

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

SNV
Germline

Chr19:38458216

Conflicting classifications of pathogenicity

Condition: not provided
not specified
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

Criteria Provided
Conflicting Classifications

CA024325

rs_138704724

12 SubmittersRCV000147417 RCV000247824 RCV000285029 RCV000380122 RCV000323206 RCV000377071 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

Criteria Provided
Conflicting Classifications

CA024401

rs_559581937

6 SubmittersRCV000147421 RCV001237337 RCV003338423

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

SNV
Germline

Chr19:38483476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024469

rs_76537615

9 SubmittersRCV000147430 RCV000239106 RCV000282746 RCV000298179 RCV000553661 RCV001288364 RCV000342522 RCV000394130

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

SNV
Germline

Chr19:38496466

Conflicting classifications of pathogenicity

Condition: not provided
Multi-minicore disease and atypical periodic paralysis
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
King Denborough syndrome
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Congenital myopathy with fiber type disproportion

Criteria Provided
Conflicting Classifications

CA024643

rs_200563280

23 SubmittersRCV000147436 RCV000148787 RCV000171129 RCV000178453 RCV000263175 RCV000525302 RCV001257398 RCV001530191 RCV002505131

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

SNV
Germline

Chr19:38516111

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024994

rs_587784379

7 SubmittersRCV000147451 RCV001036190 RCV000855485 RCV001004921 RCV003998165

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

SNV
Germline

Chr19:38459253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024341

rs_147320363

17 SubmittersRCV000148816 RCV000153861 RCV000210004 RCV000533102 RCV000723802 RCV002514856 RCV002492546

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

SNV
Germline

Chr19:38517386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024999

rs_200950673

9 SubmittersRCV000148800 RCV000287628 RCV000281816 RCV000323995 RCV000378617 RCV000382036 RCV000725266 RCV000990203 RCV001084344

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

SNV
Germline

Chr19:38543420

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA023934

rs_377178986

9 SubmittersRCV000148788 RCV000721251 RCV000704053 RCV000990206 RCV001266922 RCV001795258 RCV002478416

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

SNV
Germline

Chr19:38483460

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024464

rs_369466056

4 SubmittersRCV000288457 RCV000382933 RCV000721563 RCV000254093 RCV001085788 RCV000348149 RCV000394118

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

SNV
Germline

Chr19:38561106

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023977

rs_143861818

10 SubmittersRCV000153872 RCV000321998 RCV000513533 RCV001081922 RCV000271306 RCV000325376 RCV000384640

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

SNV
Germline

Chr19:38459297

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
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024345

rs_374924686

6 SubmittersRCV000271334 RCV000382164 RCV000328927 RCV000385851 RCV000721447 RCV001080983

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

SNV
Germline

Chr19:38443551

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024366

rs_192495718

7 SubmittersRCV000241987 RCV000269477 RCV000273582 RCV000329250 RCV000368221 RCV000513860 RCV001257051

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

SNV
Germline

Chr19:38502967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024874

rs_142558977

8 SubmittersRCV000282044 RCV000335516 RCV000337138 RCV000245786 RCV000721683 RCV000408287 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
Congenital multicore myopathy with external ophthalmoplegia
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA024923

rs_144777676

7 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
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024978

rs_61739911

6 SubmittersRCV000280267 RCV000283860 RCV000337639 RCV000407782 RCV000721737 RCV001081180

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

SNV
Germline

Chr19:38543564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA023939

rs_794727946

4 SubmittersRCV000180427 RCV002500520 RCV001852247 RCV003996587

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

SNV
Germline

Chr19:38561329

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA023986

rs_772494345

4 SubmittersRCV000721273 RCV002492793 RCV003591696

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

SNV
Germline

Chr19:38565378

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024031

rs_794727985

4 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
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Condition: not provided
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA024020

rs_539194350

6 SubmittersRCV000180737 RCV000286783 RCV000341804 RCV000400216 RCV000721299 RCV000376367 RCV001085625

NM_000540.3(RYR1):c.14130-8C>G

SNV
Germline

Chr19:38575911

Conflicting classifications of pathogenicity

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA024106

rs_140808099

7 SubmittersRCV000180763 RCV000308235 RCV000272964 RCV000400439 RCV000365160 RCV001080447 RCV000542341

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

SNV
Germline

Chr19:38467732

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA024393

rs_145088074

4 SubmittersRCV000182605 RCV000785928 RCV003996724 RCV001852321

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
Central core myopathy
Malignant hyperthermia of anesthesia
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

10 SubmittersRCV000203140 RCV000272384 RCV000326085 RCV000329734 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
RYR1-related disorder
Condition: not provided
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

CA023962

rs_794728696

8 SubmittersRCV000210653 RCV000542897 RCV000721259 RCV002288788 RCV003147380 RCV003114333

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
Congenital myopathy with fiber type disproportion
Central core myopathy
Malignant hyperthermia, susceptibility to, 1
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

Criteria Provided
Conflicting Classifications

CA024278

rs_368874586

7 SubmittersRCV000210545 RCV000721408 RCV000793270 RCV001449967 RCV002051687 RCV004556761

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

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

Criteria Provided
Conflicting Classifications

CA061474

rs_536148030

4 SubmittersRCV000192736 RCV000706064 RCV002485290 RCV003996907

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

SNV
Germline

Chr19:38446571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069403

rs_201679831

10 SubmittersRCV000202682 RCV000343659 RCV000252878 RCV000286450 RCV000378557 RCV000381967 RCV000721647 RCV001082010

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

SNV
Germline

Chr19:38440788

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073030

rs_145771708

6 SubmittersRCV000209972 RCV000296805 RCV000351450 RCV000399849 RCV000721723 RCV001086341

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

SNV
Germline

Chr19:38464674

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064079

rs_748568687

9 SubmittersRCV000210019 RCV000210634 RCV000298912 RCV000302588 RCV000357405 RCV000538947 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
Malignant hyperthermia, susceptibility to, 1
Congenital myopathy with fiber type disproportion
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA071016

rs_148041292

8 SubmittersRCV000209968 RCV000678749 RCV000765449 RCV000800203 RCV001356636

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

SNV
Germline

Chr19:38536758

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
Condition: not provided
RYR1-related disorder
Myalgia
Exercise-induced myalgia
Elevated circulating creatine kinase concentration
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

5 SubmittersRCV000210015 RCV000521020 RCV000547789 RCV000626705 RCV000764195

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

SNV
Germline

Chr19:38453012

Conflicting classifications of pathogenicity

Central core myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10575982

rs_878854375

2 SubmittersRCV000231682 RCV000721364

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

SNV
Germline

Chr19:38458154

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16616833

rs_878854365

4 SubmittersRCV000550931 RCV001782728 RCV002500828

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

SNV
Germline

Chr19:38523116

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA053108

rs_111436401

9 SubmittersRCV000210710 RCV000521927 RCV000695241 RCV000763426 RCV000995628 RCV002259320

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

Criteria Provided
Conflicting Classifications

CA063447

rs_532101469

4 SubmittersRCV000252952 RCV000304675 RCV000358107 RCV000404669 RCV000363985 RCV000655678

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

Criteria Provided
Conflicting Classifications

CA063753

rs_201498416

6 SubmittersRCV000242463 RCV000294208 RCV000330535 RCV000290802 RCV000385226 RCV000721471 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
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064432

rs_145434723

7 SubmittersRCV000249519 RCV000288869 RCV000343812 RCV000721487 RCV000383257 RCV000399586 RCV001084156

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

SNV
Germline

Chr19:38467812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064758

rs_200780880

7 SubmittersRCV000250679 RCV000282896 RCV000340280 RCV000379896 RCV000397188 RCV000559351 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
Malignant hyperthermia of anesthesia
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
Central core myopathy
Condition: not provided
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA065904

rs_368108496

6 SubmittersRCV000250307 RCV000301431 RCV000304590 RCV000336036 RCV000399614 RCV000513035 RCV001083634 RCV003514335

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

SNV
Germline

Chr19:38478468

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

CA10587311

rs_886038331

4 SubmittersRCV000252142 RCV001122764 RCV001122763 RCV001128461 RCV002057382

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

SNV
Germline

Chr19:38483056

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066336

rs_200600174

4 SubmittersRCV000243315 RCV000292256 RCV000351827 RCV000395496 RCV000386558 RCV001487929

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

SNV
Germline

Chr19:38485626

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

Criteria Provided
Conflicting Classifications

CA066559

rs_141107290

7 SubmittersRCV000301244 RCV000367615 RCV000353072 RCV000398418 RCV000721570 RCV001082011

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

SNV
Germline

Chr19:38499242

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068977

rs_202061237

6 SubmittersRCV000249710 RCV000691898 RCV001125453 RCV000721630 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

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

Criteria Provided
Conflicting Classifications

CA054019

rs_368360689

6 SubmittersRCV000248525 RCV000287336 RCV000283830 RCV000378251 RCV000323697 RCV000721204 RCV001079516

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

SNV
Germline

Chr19:38528590

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA055430

rs_201976186

7 SubmittersRCV000247423 RCV000305186 RCV000345117 RCV000306574 RCV000407981 RCV001079163 RCV000721217

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

SNV
Germline

Chr19:38534707

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA056599

rs_540088883

4 SubmittersRCV000243303 RCV001131438 RCV001131437 RCV001131439 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
Central core myopathy
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA056930

rs_369650355

4 SubmittersRCV000246426 RCV000279931 RCV000351142 RCV000312561 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

Criteria Provided
Conflicting Classifications

CA061956

rs_2229149

5 SubmittersRCV000241903 RCV000277489 RCV000308165 RCV000332546 RCV000362889 RCV001080361

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

SNV
Germline

Chr19:38527014

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA054285

rs_536304635

10 SubmittersRCV000280179 RCV000338681 RCV000335257 RCV000398390 RCV000656969 RCV000818112 RCV001266921 RCV001731554

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

not specified
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

CA068516

rs_149185729

8 SubmittersRCV000264217 RCV000261115 RCV000284219 RCV000316380 RCV000378714 RCV000721620 RCV001078963

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
Multiminicore myopathy
Condition: not provided
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10605744

rs_867851900

5 SubmittersRCV000296266 RCV000344212 RCV000388448 RCV000721315 RCV000400884 RCV000549654

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

SNV
Germline

Chr19:38485635

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA066575

rs_374115286

5 SubmittersRCV001123942 RCV000721571 RCV001081976 RCV001123941 RCV001123943

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

SNV
Germline

Chr19:38473649

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065501

rs_777049924

7 SubmittersRCV000273611 RCV000313458 RCV000370505 RCV000657029 RCV000331017 RCV000655552

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
not specified
Condition: not provided
RYR1-related disorder
Central core myopathy

Criteria Provided
Conflicting Classifications

CA064824

rs_201599911

6 SubmittersRCV000281594 RCV000313376 RCV000334540 RCV000439132 RCV000721494 RCV001079903 RCV000401348

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

Criteria Provided
Conflicting Classifications

CA064990

rs_377282283

3 SubmittersRCV000281517 RCV000320067 RCV000320847 RCV000378330 RCV001298574 RCV001552285

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

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

CA065960

rs_370851779

5 SubmittersRCV000276785 RCV000272279 RCV000327130 RCV000381702 RCV003114490 RCV003129833

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

SNV
Germline

Chr19:38478461

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

CA066143

rs_767928113

4 SubmittersRCV000270553 RCV000306888 RCV000364887 RCV000369799 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

3 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
Congenital multicore myopathy with external ophthalmoplegia
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA067063

rs_772422894

2 SubmittersRCV000295445 RCV000308529 RCV000395346 RCV000352631 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
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA067726

rs_201310026

3 SubmittersRCV000267358 RCV000322444 RCV000377017 RCV000371454 RCV000547971

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

SNV
Germline

Chr19:38494395

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068067

rs_769443054

2 SubmittersRCV000351067 RCV000386877 RCV000292503 RCV000655691 RCV000296149

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
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA068218

rs_530885842

4 SubmittersRCV000275501 RCV000281444 RCV000330565 RCV000375920 RCV001795948 RCV001368607

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

Criteria Provided
Conflicting Classifications

CA069019

rs_369342449

2 SubmittersRCV000295398 RCV000350300 RCV000386259 RCV000389566 RCV003757170

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

SNV
Germline

Chr19:38500912

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
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA069757

rs_368560744

6 SubmittersRCV000272030 RCV000329583 RCV000320313 RCV000359718 RCV000655719 RCV001085945

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

Criteria Provided
Conflicting Classifications

CA073259

rs_200797340

5 SubmittersRCV000289050 RCV000346443 RCV000381209 RCV001660679 RCV003995872 RCV000384648 RCV000655514

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

Criteria Provided
Conflicting Classifications

CA073441

rs_56338790

6 SubmittersRCV000265326 RCV000268916 RCV000721733 RCV001087825 RCV000304062 RCV000361218 RCV003995873

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

SNV
Germline

Chr19:38523228

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA053293

rs_376830015

3 SubmittersRCV000275472 RCV000330605 RCV000369963 RCV000721200 RCV000315315 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
Malignant hyperthermia of anesthesia
Multiminicore myopathy
RYR1-related disorder
Neuromuscular disease, congenital, with uniform type 1 fiber
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA057084

rs_151239950

3 SubmittersRCV000306797 RCV000364857 RCV000391757 RCV001050295 RCV000363542 RCV003514351

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

Criteria Provided
Conflicting Classifications

CA10642763

rs_886054405

2 SubmittersRCV000290164 RCV000326773 RCV000384595 RCV000340398 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
RYR1-related disorder
Malignant hyperthermia of anesthesia

Criteria Provided
Conflicting Classifications

CA059539

rs_758223017

2 SubmittersRCV000277297 RCV000313598 RCV000363576 RCV003757174 RCV000366875

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

Criteria Provided
Conflicting Classifications

CA059625

rs_543458339

3 SubmittersRCV000285745 RCV000321065 RCV000380159 RCV000336119 RCV000655645 RCV002225586

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

SNV
Germline

Chr19:38578028

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

CA061035

rs_201157293

5 SubmittersRCV000339321 RCV000345135 RCV000310165 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
Neuromuscular disease, congenital, with uniform type 1 fiber
Central core myopathy
Multiminicore myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA066968

rs_754569485

2 SubmittersRCV000280476 RCV000340557 RCV000374886 RCV000390244 RCV003757168

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
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

CA10648631

rs_886054385

3 SubmittersRCV000262875 RCV000317939 RCV000292316 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
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA065813

rs_2229141

7 SubmittersRCV000288850 RCV000333270 RCV000347977 RCV000387872 RCV001088328 RCV000721530

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

Criteria Provided
Conflicting Classifications

CA068150

rs_201649680

2 SubmittersRCV000303533 RCV000358367 RCV000398295 RCV000393407 RCV003320631

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

SNV
Germline

Chr19:38496317

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068509

rs_371006370

2 SubmittersRCV000273945 RCV000355962 RCV000368727 RCV000868600 RCV000319895

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
Malignant hyperthermia of anesthesia
Central core myopathy
RYR1-related disorder
Multiminicore myopathy

Criteria Provided
Conflicting Classifications

CA070814

rs_777420696

2 SubmittersRCV000265194 RCV000355376 RCV000379531 RCV002057507 RCV000320354

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

Criteria Provided
Conflicting Classifications

CA072075

rs_761622550

2 SubmittersRCV000266825 RCV000326628 RCV000361260 RCV000362543 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
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA072142

rs_140171924

2 SubmittersRCV000272700 RCV000292819 RCV000327865 RCV000387044 RCV002521223

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

3 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

3 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
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA052950

rs_778171066

3 SubmittersRCV000299463 RCV000354208 RCV000403332 RCV000391270 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
Neuromuscular disease, congenital, with uniform type 1 fiber
Multiminicore myopathy
RYR1-related disorder
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10648646

rs_886054401

3 SubmittersRCV000276753 RCV000315425 RCV000366856 RCV000354968 RCV001506741 RCV003995875

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

SNV
Germline

Chr19:38548357

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

Criteria Provided
Conflicting Classifications

CA058467

rs_764395582

2 SubmittersRCV000273946 RCV000270290 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
Congenital multicore myopathy with external ophthalmoplegia
Malignant hyperthermia, susceptibility to, 1
Central core myopathy
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA063415

rs_200893443

7 SubmittersRCV000311307 RCV000347451 RCV000336109 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
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA063690

rs_375402078

3 SubmittersRCV000263941 RCV000304164 RCV000319110 RCV000358911 RCV001718687 RCV000556795

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

3 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
RYR1-related disorder
Malignant hyperthermia of anesthesia
Central core myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA064318

rs_143891703

3 SubmittersRCV000267444 RCV000303829 RCV001483259 RCV000358587 RCV000362093 RCV000841631

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

SNV
Germline

Chr19:38466343

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10651846

rs_569565316

2 SubmittersRCV000300767 RCV000340438 RCV000304081 RCV001444339 RCV000398910

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

Criteria Provided
Conflicting Classifications

CA069555

rs_199813873

4 SubmittersRCV000262130 RCV000311415 RCV000368469 RCV000397588 RCV000872671 RCV003995869

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

Criteria Provided
Conflicting Classifications

CA069615

rs_758872814

2 SubmittersRCV000284595 RCV000327926 RCV000384750 RCV000379912 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
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA069727

rs_375997435

5 SubmittersRCV000288054 RCV000296496 RCV000345553 RCV000390664 RCV001207649 RCV001093149

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

SNV
Germline

Chr19:38504213

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10651865

rs_886054395

3 SubmittersRCV000302093 RCV000403061 RCV000361454 RCV000714855 RCV000405078 RCV002521222

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

SNV
Germline

Chr19:38504762

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA071465

rs_745619519

3 SubmittersRCV000285086 RCV000339139 RCV000655606 RCV003995870 RCV000344865 RCV000379609

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

2 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
Malignant hyperthermia, susceptibility to, 1
Congenital multicore myopathy with external ophthalmoplegia
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10651880

rs_141542477

2 SubmittersRCV000263466 RCV000265489 RCV000375297 RCV000320643 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
Malignant hyperthermia, susceptibility to, 1
Neuromuscular disease, congenital, with uniform type 1 fiber
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA055308

rs_760754746

3 SubmittersRCV000293881 RCV000346406 RCV000407973 RCV000385840 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
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA056181

rs_370928637

2 SubmittersRCV000285706 RCV000343029 RCV000391397 RCV000382513 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

Criteria Provided
Conflicting Classifications

CA056848

rs_757745087

3 SubmittersRCV000286552 RCV000320535 RCV000326225 RCV000378623 RCV001435330

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

Criteria Provided
Conflicting Classifications

CA060823

rs_546280470

2 SubmittersRCV000314047 RCV000352552 RCV000349023 RCV000861778 RCV000399675

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

3 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
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061510

rs_773080803

6 SubmittersRCV000289632 RCV000328355 RCV000385235 RCV000415618 RCV000868705 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

7 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

Criteria Provided
Conflicting Classifications

CA064089

rs_576990255

4 SubmittersRCV000273622 RCV000288806 RCV000328415 RCV000383044 RCV000868274

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
Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA064092

rs_761045773

4 SubmittersRCV000285525 RCV000325076 RCV000379932 RCV000340381 RCV002057505

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

SNV
Germline

Chr19:38477722

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065927

rs_200289457

10 SubmittersRCV000275614 RCV000312053 RCV000371141 RCV000356178 RCV000513329 RCV000526894 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
RYR1-related disorder
Central core myopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA068464

rs_375640581

4 SubmittersRCV000283795 RCV000348050 RCV000397482 RCV001086765 RCV000403740 RCV000721618

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
Malignant hyperthermia of anesthesia
Central core myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA069079

rs_748167551

2 SubmittersRCV000282587 RCV000298057 RCV000337664 RCV000405178 RCV000878714

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

Criteria Provided
Conflicting Classifications

CA072631

rs_368684717

6 SubmittersRCV000284518 RCV000341911 RCV000391685 RCV000376679 RCV001087983 RCV000502645 RCV000721716

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
Central core myopathy
Multiminicore myopathy
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA10652422

rs_571477269

2 SubmittersRCV000287574 RCV000344848 RCV000378552 RCV000384274 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
not specified
Condition: not provided
RYR1-related disorder

Criteria Provided
Conflicting Classifications

CA059752

rs_748743312

6 SubmittersRCV000271016 RCV000302764 RCV000357600 RCV000363198 RCV000501104 RCV000727521 RCV001088212

NM_000540.3(RYR1):c.13998+3G>A

SNV
Germline

Chr19:38572273

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
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

CA060696

rs_765404523

4 SubmittersRCV000279016 RCV000282567 RCV000336443 RCV000374610 RCV001323430 RCV002487452

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

SNV
Germline

Chr19:38473726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA065572

rs_370966353

11 SubmittersRCV000415245 RCV000487533 RCV000690328 RCV001128279 RCV001128278 RCV001128280 RCV001198358 RCV003993948

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

SNV
Germline

Chr19:38467817

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064755

rs_199691436

3 SubmittersRCV000422889 RCV004000367 RCV002226708

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

SNV
Germline

Chr19:38502728

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16607795

rs_1057524858

3 SubmittersRCV000442837 RCV001865407 RCV002488988

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

SNV
Germline

Chr19:38496206

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068423

rs_370994573

4 SubmittersRCV000655697 RCV001127015 RCV001127017 RCV001127016 RCV001721301

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

SNV
Germline

Chr19:38536071

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA068419

rs_756593088

5 SubmittersRCV000454540 RCV001127442 RCV001127018 RCV001127441 RCV001865413

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

SNV
Germline

Chr19:38473772

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA405643333

rs_113460156

3 SubmittersRCV000490681 RCV002489200 RCV003757181

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
Malignant hyperthermia, susceptibility to, 1
Central core myopathy

Criteria Provided
Conflicting Classifications

CA073816

rs_756331568

7 SubmittersRCV000504175 RCV000721749 RCV001221339 RCV001829435 RCV004003530 RCV003992308

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

SNV
Germline

Chr19:38467683

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA064615

rs_144164620

3 SubmittersRCV000512747 RCV001125027 RCV001125025 RCV001125026 RCV001089334

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

SNV
Germline

Chr19:38512484

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA073621

rs_776697656

6 SubmittersRCV000522844 RCV001266974 RCV001858000 RCV002506276 RCV004003622

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

SNV
Germline

Chr19:38573308

Likely pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA066462

rs_776194441

5 SubmittersRCV000541033 RCV001546453 RCV002476208 RCV004024433

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

SNV
Germline

Chr19:38585967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405692312

rs_1432807966

6 SubmittersRCV000541517 RCV000595499 RCV002250657 RCV002497202 RCV003999490

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

SNV
Germline

Chr19:38566950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059891

rs_149455643

5 SubmittersRCV000551114 RCV000764199 RCV000623122 RCV001797108

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

SNV
Germline

Chr19:38573248

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA060795

rs_113058779

5 SubmittersRCV001078943 RCV000827374 RCV002497201 RCV003999489

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

SNV
Germline

Chr19:38485942

Conflicting classifications of pathogenicity

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

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

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

Criteria Provided
Conflicting Classifications

CA061519

rs_770698609

3 SubmittersRCV000552120 RCV001134675 RCV001134676 RCV001134677

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

SNV
Germline

Chr19:38444167

Conflicting classifications of pathogenicity

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

CA066047

rs_151325948

8 SubmittersRCV000623845 RCV000721535 RCV000818782 RCV003514380 RCV002497264

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

Criteria Provided
Conflicting Classifications

CA061382

rs_763954439

5 SubmittersRCV000721379 RCV001132277 RCV001132278 RCV001132279 RCV001081890

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

SNV
Germline

Chr19:38452838

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA074223

rs_752199191

8 SubmittersRCV000627253 RCV001809708 RCV001855333 RCV002499018

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

SNV
Germline

Chr19:38499954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA069413

rs_193922808

6 SubmittersRCV000655593 RCV001125555 RCV001125554 RCV002275123 RCV002507140

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

SNV
Germline

Chr19:38452824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA059053

rs_764262446

8 SubmittersRCV000655525 RCV000658830 RCV001729679 RCV002250674 RCV003334390 RCV004004138 RCV004525996

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

SNV
Germline

Chr19:38496407

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA405666150

rs_1346257891

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
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA069011

rs_536596969

4 SubmittersRCV000655584 RCV000754734 RCV003238799 RCV004004153

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

Criteria Provided
Conflicting Classifications

CA074235

rs_201276068

5 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.7836-1G>A

SNV
Germline

Chr19:38502879

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568507354

3 SubmittersRCV000678325 RCV002493120 RCV003591771

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

SNV
Germline

Chr19:38442391

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
Condition: not provided
Central core myopathy

Criteria Provided
Conflicting Classifications

rs_1568440962

4 SubmittersRCV000689574 RCV003133523 RCV002286779

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

Criteria Provided
Conflicting Classifications

rs_150977342

5 SubmittersRCV000699049 RCV001331318 RCV003130009 RCV004026463

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

SNV
Germline

Chr19:38586086

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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
King Denborough syndrome
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

Criteria Provided
Conflicting Classifications

rs_146754847

6 SubmittersRCV000693319 RCV000721454 RCV002477569 RCV003999596

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

SNV
Germline

Chr19:38477860

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_747718728

6 SubmittersRCV000693287 RCV002477568 RCV003130003 RCV002531464 RCV003999595

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

SNV
Germline

Chr19:38459265

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_369947687

4 SubmittersRCV000721445 RCV002493286 RCV002533063

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

SNV
Germline

Chr19:38485969

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1568484835

4 SubmittersRCV000721586 RCV001036189 RCV002493289

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

SNV
Germline

Chr19:38510645

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372702492

4 SubmittersRCV000721725 RCV002485829 RCV003768164 RCV003999866

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

rs_1568524980

2 SubmittersRCV000721744 RCV001126328 RCV001126329 RCV001126330

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

SNV
Germline

Chr19:38517565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_544339193

4 SubmittersRCV000721762 RCV001312367 RCV002485830

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

SNV
Germline

Chr19:38565514

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_748844266

6 SubmittersRCV000721305 RCV001362581 RCV002507264 RCV004026924

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

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

Criteria Provided
Conflicting Classifications

rs_1189024951

6 SubmittersRCV000721355 RCV000814221 RCV002499325 RCV003999821

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1568614042

3 SubmittersRCV000721411 RCV000785960 RCV001206699

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

SNV
Germline

Chr19:38516165

Likely pathogenic

Central core myopathy

No Assertion Criteria Provided

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1332371891

2 SubmittersRCV000754733 RCV002536549

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

rs_1278804520

2 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

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

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

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
Condition: not provided
Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Conflicting Classifications

rs_202105428

5 SubmittersRCV000805637 RCV001125553 RCV001310399 RCV001125551 RCV001125552

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

SNV
Germline

Chr19:38466204

Conflicting classifications of pathogenicity

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
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1440262870

4 SubmittersRCV000811818 RCV002495127 RCV003141824 RCV004001735

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

SNV
Germline

Chr19:38494522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776830747

6 SubmittersRCV000813191 RCV001729710 RCV003132080 RCV004001749

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

SNV
Germline

Chr19:38584963

Pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_193922887

2 SubmittersRCV000801582 RCV000853348

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

SNV
Germline

Chr19:38459268

Pathogenic/Likely pathogenic

Central core myopathy
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_371455345

2 SubmittersRCV000825544 RCV001383922

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

SNV
Germline

Chr19:38440741

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
Malignant hyperthermia, susceptibility to, 1
RYR1-related disorder

Criteria Provided
Conflicting Classifications

rs_201094741

4 SubmittersRCV004002997 RCV002487901 RCV000867181

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

rs_915321867

3 SubmittersRCV001126225 RCV001126226 RCV001126227 RCV001402423

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

SNV
Germline

Chr19:38458169

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776252106

6 SubmittersRCV001004922 RCV002305557 RCV001862742 RCV002479200 RCV004004475

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

SNV
Germline

Chr19:38458108

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1305971341

5 SubmittersRCV001058792 RCV001784614 RCV002505620 RCV004000105

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

SNV
Germline

Chr19:38505340

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_767805554

5 SubmittersRCV001051646 RCV002505599 RCV003490034 RCV003514460

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

SNV
Germline

Chr19:38580091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_193922875

3 SubmittersRCV001040954 RCV002481884 RCV003130110

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

SNV
Germline

Chr19:38527792

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374325589

2 SubmittersRCV001034975 RCV002489536

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

SNV
Germline

Chr19:38580064

Pathogenic

Central core myopathy

Criteria Provided
Single Submitter

rs_1974129338

1 SubmittersRCV001260939

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

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

rs_144067910

3 SubmittersRCV001125256 RCV001125257 RCV001126230 RCV001410297

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

SNV
Germline

Chr19:38517405

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_764290955

2 SubmittersRCV001128469 RCV001128467 RCV001128468 RCV002558261

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

SNV
Germline

Chr19:38517558

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

rs_776468955

2 SubmittersRCV001123859 RCV001126499 RCV001123860 RCV002070021

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

SNV
Germline

Chr19:38527022

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1971495978

2 SubmittersRCV001124050 RCV001124052 RCV001124051

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

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

rs_763353979

4 SubmittersRCV001126334 RCV001128376 RCV001128377 RCV002070065 RCV003490081

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

SNV
Germline

Chr19:38516083

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1417337927

2 SubmittersRCV001122655 RCV001122654 RCV001122656 RCV001856618

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

SNV
Germline

Chr19:38523907

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_755330618

3 SubmittersRCV001126619 RCV001126620 RCV001126621 RCV003757216

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

SNV
Germline

Chr19:38543363

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

rs_776123178

3 SubmittersRCV001128887 RCV001128886 RCV001131555 RCV003757218

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

SNV
Germline

Chr19:38565174

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1292456827

3 SubmittersRCV001129123 RCV001129124 RCV001129125 RCV001406467

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

SNV
Germline

Chr19:38499636

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_138617219

2 SubmittersRCV001217935 RCV002504268

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

SNV
Germline

Chr19:38502902

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1365856881

4 SubmittersRCV001780144 RCV001219907 RCV002491686 RCV003156321

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

SNV
Germline

Chr19:38523927

Pathogenic

RYR1-related disorder
Condition: not provided
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_199895006

3 SubmittersRCV001227328 RCV001780158 RCV003989647

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

SNV
Germline

Chr19:38584997

Likely pathogenic

Central core myopathy
Congenital multicore myopathy with external ophthalmoplegia

Criteria Provided
Single Submitter

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

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

rs_146514343

3 SubmittersRCV001332541 RCV004005141 RCV003989686

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

SNV
Germline

Chr19:38455467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_927675372

4 SubmittersRCV001334520 RCV001865812 RCV002476551 RCV004005143

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

SNV
Germline

Chr19:38458238

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_565825739

6 SubmittersRCV001334521 RCV001702096 RCV002499657 RCV004005144 RCV003591856

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

Criteria Provided
Conflicting Classifications

rs_919322708

3 SubmittersRCV001370546 RCV002488164 RCV003235565

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

Criteria Provided
Conflicting Classifications

rs_575446156

3 SubmittersRCV001363484 RCV001773721 RCV002291505

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

SNV
Germline

Chr19:38523115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373702420

3 SubmittersRCV001370548 RCV002504621 RCV004006823

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

SNV
Germline

Chr19:38469069

Pathogenic

Central core myopathy

Criteria Provided
Single Submitter

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

rs_1377668924

2 SubmittersRCV001530192 RCV001873747

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

SNV
Germline

Chr19:38578205

Pathogenic/Likely pathogenic

Condition: not provided
RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1974046221

3 SubmittersRCV001531894 RCV003757223 RCV004017845

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

SNV
Germline

Chr19:38505082

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1970380121

4 SubmittersRCV001663366 RCV001775179 RCV003757225 RCV004008957

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

SNV
Germline

Chr19:38580449

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

rs_118192146

1 SubmittersRCV001829286

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

SNV
Germline

Chr19:38585945

Likely pathogenic

Central core myopathy
RYR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2145917373

2 SubmittersRCV001829287 RCV002034691

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

SNV
Germline

Chr19:38575917

Conflicting classifications of pathogenicity

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
Condition: not provided
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

rs_1457662393

4 SubmittersRCV001941795 RCV002497871 RCV003325593 RCV004010985

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

SNV
Germline

Chr19:38580040

Likely pathogenic

RYR1-related disorder
Central core myopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1274780855

2 SubmittersRCV002035647 RCV002283577

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

SNV
Germline

Chr19:38543372

Likely pathogenic

Central core myopathy

No Assertion Criteria Provided

1 SubmittersRCV002281653

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

SNV
Germline

Chr19:38459145

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV002284047

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

SNV
Germline

Chr19:38580454

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

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

2 SubmittersRCV003340598 RCV003064582

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

2 SubmittersRCV002635880 RCV003988015

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

SNV
Germline

Chr19:38517583

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003335792

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

SNV
Unknown

Chr19:38580055

Likely pathogenic

Central core myopathy

No Assertion Criteria Provided

1 SubmittersRCV003484986

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

SNV
Germline

Chr19:38585938

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003883301

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

SNV
Germline

Chr19:38499975

Likely pathogenic

Central core myopathy

Criteria Provided
Single Submitter

1 SubmittersRCV003990362

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

SNV
Germline

Chr19:38532542