Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	SNV Germline	Chr17:63941940	Pathogenic	Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Condition: not provided Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA117835	rs_121908544	9 SubmittersRCV000006258 RCV000206951 RCV000255921 RCV001813736 RCV003989102
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	SNV Germline	Chr17:63959270	Pathogenic	Hypokalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 1 Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253653	rs_80338785	5 SubmittersRCV000006276 RCV000020262 RCV000206901 RCV001092728
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	SNV Germline	Chr1:201053538	Pathogenic	Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA004054	rs_28930068	15 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003450645 RCV003992159
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	SNV Germline	Chr1:201053539	Pathogenic	Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA004048	rs_28930069	7 SubmittersRCV000019191 RCV000518061 RCV000693727 RCV003450646
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	SNV Germline	Chr1:201077915	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA004021	rs_80338777	18 SubmittersRCV000019192 RCV000414449 RCV000627794 RCV004751219 RCV005003389 RCV006547500
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)	SNV Germline	Chr1:201066283	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 not specified Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA004032	rs_80338779	4 SubmittersRCV000019197 RCV000455686 RCV000822757
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)	SNV Germline	Chr1:201066917	Likely pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA004028	rs_267606698	3 SubmittersRCV000019198
NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly)	SNV Germline	Chr1:201077916	Pathogenic	Hypokalemic periodic paralysis, type 1	No Assertion Criteria Provided	CA004020	rs_80338778	2 SubmittersRCV000020093
NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=)	SNV Germline	Chr1:201061333	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079585	rs_150020550	5 SubmittersRCV000344251 RCV000516744 RCV000874413 RCV003996559
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	SNV Germline	Chr17:63947082	Pathogenic	Hypokalemic periodic paralysis, type 2 Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 1 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA345720	rs_527236150	9 SubmittersRCV000132737 RCV000254971 RCV000797599 RCV002305449 RCV005016463
NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)	SNV Germline	Chr1:201060816	Likely pathogenic	Condition: not provided Malignant hyperthermia of anesthesia Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA004036	rs_80338782	4 SubmittersRCV000144372 RCV004017419 RCV005008047
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)	SNV Germline	Chr1:201051037	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 1 not specified Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA004058	rs_145910245	12 SubmittersRCV000148444 RCV000181043 RCV000586717 RCV001081599 RCV002225085 RCV003917462 RCV005305968
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)	SNV Germline	Chr1:201043324	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA004070	rs_199989324	4 SubmittersRCV002918364 RCV003517439 RCV003418637
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	SNV Germline	Chr1:201091983	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Long QT syndrome Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA004075	rs_141204958	13 SubmittersRCV000210886 RCV000455562 RCV000651228 RCV000755673 RCV000996101 RCV003318365 RCV005008109 RCV005361087 RCV005402868
NM_000069.3(CACNA1S):c.3526-2A>G	SNV Germline	Chr1:201058493	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA276128	rs_797045031	2 SubmittersRCV000191067 RCV001376984
NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)	SNV Germline	Chr1:201062005	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Hypokalemic periodic paralysis, type 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079474	rs_116347156	5 SubmittersRCV000210902 RCV000320288 RCV000493592 RCV001079169 RCV003517149
NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)	SNV Germline	Chr1:201078040	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078249	rs_528563981	6 SubmittersRCV000246687 RCV000372195 RCV000863576 RCV002500845 RCV003332158 RCV006547912
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser)	SNV Germline	Chr1:201093897	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082871	rs_139491817	8 SubmittersRCV000242506 RCV000367694 RCV000711144 RCV001082151 RCV003165683 RCV005401403
NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)	SNV Germline	Chr1:201078005	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 not specified Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078268	rs_150590855	12 SubmittersRCV000277233 RCV000326557 RCV000415659 RCV000560360 RCV000656816 RCV002519032
NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)	SNV Germline	Chr1:201043321	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA083665	rs_146696748	7 SubmittersRCV000362920 RCV000815102 RCV003454872 RCV003458395 RCV003454873 RCV005401415
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)	SNV Germline	Chr1:201043447	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083619	rs_200848930	5 SubmittersRCV000692277 RCV000711148 RCV005003622 RCV005401416
NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His)	SNV Germline	Chr1:201047237	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083441	rs_764330337	7 SubmittersRCV000380331 RCV000810862 RCV001356451 RCV005305998 RCV006547958
NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)	SNV Germline	Chr1:201062018	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA10608734	rs_146497999	7 SubmittersRCV000290207 RCV002221220 RCV003454890 RCV003458406 RCV004021408 RCV005222879
NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=)	SNV Germline	Chr1:201062491	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079358	rs_138328785	4 SubmittersRCV000295985 RCV000865777 RCV003995798
NM_000069.3(CACNA1S):c.2754G>A (p.Val918=)	SNV Germline	Chr1:201065937	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA10608735	rs_150708636	4 SubmittersRCV000338620 RCV000651248 RCV003884450 RCV006547963
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)	SNV Germline	Chr1:201085443	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 not specified Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA077973	rs_144883479	7 SubmittersRCV000324715 RCV000866071 RCV001288112 RCV002292504 RCV002504041 RCV006547969
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)	SNV Germline	Chr1:201054543	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided not specified Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082677	rs_148870919	7 SubmittersRCV000372331 RCV000651218 RCV001092293 RCV004999254 RCV006547962
NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val)	SNV Germline	Chr1:201075540	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078658	rs_201784750	5 SubmittersRCV000376805 RCV000552279 RCV001705442 RCV006547965
NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr)	SNV Germline	Chr1:201077069	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078518	rs_763794604	5 SubmittersRCV000381485 RCV001850519 RCV003417940 RCV003995801
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)	SNV Germline	Chr1:201083203	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078157	rs_35521793	5 SubmittersRCV000263862 RCV000484498 RCV000697995 RCV003165797 RCV003517182
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=)	SNV Germline	Chr1:201087921	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084059	rs_760398733	3 SubmittersRCV000325894 RCV001421972 RCV006547970
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)	SNV Germline	Chr1:201039943	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083885	rs_200765341	6 SubmittersRCV000398256 RCV000551485 RCV001571219 RCV003957538 RCV006547955
NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=)	SNV Germline	Chr1:201044349	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA10609292	rs_752911523	4 SubmittersRCV000396474 RCV001485565 RCV003977832 RCV003995797
NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)	SNV Germline	Chr1:201047606	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083377	rs_533353353	4 SubmittersRCV000376799 RCV000554452 RCV001463001 RCV006547959
NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=)	SNV Germline	Chr1:201048586	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083347	rs_200538716	4 SubmittersRCV000352167 RCV000994224 RCV001447393 RCV006547960
NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp)	SNV Germline	Chr1:201052606	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082928	rs_780390034	4 SubmittersRCV000337244 RCV001364039 RCV002508209 RCV006547961
NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)	SNV Germline	Chr1:201075498	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Inborn genetic diseases Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078677	rs_760246258	8 SubmittersRCV000267151 RCV000651225 RCV000994231 RCV003298356 RCV005008267 RCV005402900
NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg)	SNV Germline	Chr1:201075558	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078649	rs_147888089	5 SubmittersRCV000265931 RCV001295829 RCV005008268 RCV005003624 RCV006547966
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)	SNV Germline	Chr1:201077002	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078549	rs_377459546	6 SubmittersRCV000299085 RCV000689050 RCV001753751 RCV005008269 RCV006547967
NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=)	SNV Germline	Chr1:201083187	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078162	rs_767568799	3 SubmittersRCV000397226 RCV001466152 RCV006547968
NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=)	SNV Germline	Chr1:201043511	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083604	rs_146619460	4 SubmittersRCV000281287 RCV001850517 RCV002504037 RCV006547956
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)	SNV Germline	Chr1:201089269	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA084030	rs_138205421	7 SubmittersRCV000296457 RCV000811152 RCV003454913 RCV003454912 RCV003458419 RCV005008270
NM_000069.3(CACNA1S):c.398+3G>A	SNV Germline	Chr1:201093879	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083015	rs_764710968	6 SubmittersRCV000651213 RCV000835462 RCV003517183 RCV005008271
NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=)	SNV Germline	Chr1:201044373	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083563	rs_763069723	3 SubmittersRCV000351633 RCV000555819 RCV006547957
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)	SNV Germline	Chr1:201062040	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided not specified CACNA1S-related disorder Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079447	rs_140453525	7 SubmittersRCV000345175 RCV001241998 RCV001705441 RCV003401281 RCV003910073 RCV005008266 RCV005402899
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)	SNV Germline	Chr1:201066950	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079124	rs_545411173	5 SubmittersRCV000329590 RCV000867936 RCV003221891 RCV006547964
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)	SNV Germline	Chr1:201069522	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 not specified Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder	Criteria Provided Conflicting Classifications	CA078993	rs_139956524	11 SubmittersRCV000397662 RCV000524917 RCV001081318 RCV001723879 RCV003517181 RCV003957539
NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=)	SNV Germline	Chr1:201073606	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078808	rs_774160640	5 SubmittersRCV000317251 RCV000651242 RCV003910074 RCV003995799
NM_000069.3(CACNA1S):c.1949-7C>T	SNV Germline	Chr1:201074627	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 CACNA1S-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA078725	rs_368564115	6 SubmittersRCV000400031 RCV000545576 RCV003445866 RCV003445867 RCV003445868 RCV003940101 RCV004725150
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met)	SNV Germline	Chr1:201077119	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078485	rs_777962341	4 SubmittersRCV001850520 RCV002494914 RCV003995802
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)	SNV Germline	Chr1:201089415	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083982	rs_200665694	8 SubmittersRCV000357931 RCV000553064 RCV000996099 RCV006547971
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)	SNV Germline	Chr1:201091736	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083920	rs_527702358	6 SubmittersRCV000383532 RCV000704043 RCV001775757 RCV002522094 RCV006547973
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val)	SNV Germline	Chr1:201085016	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078019	rs_148770452	5 SubmittersRCV000414075 RCV000699469 RCV000996097 RCV005004145 RCV006549985
NM_000069.3(CACNA1S):c.3414+3A>T	SNV Germline	Chr1:201060655	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA16603474	rs_892742196	6 SubmittersRCV000529294 RCV002264936 RCV003897864 RCV003996060 RCV005010322
NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=)	SNV Germline	Chr1:201065856	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079309	rs_753072795	5 SubmittersRCV000438310 RCV001096284 RCV001482700 RCV004000475
NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)	SNV Germline	Chr1:201047211	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA083451	rs_765581827	6 SubmittersRCV000422829 RCV001397065 RCV003456072 RCV003458436 RCV003456073 RCV003456074 RCV004711096
NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)	SNV Germline	Chr1:201053226	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA082876	rs_774300377	6 SubmittersRCV000420857 RCV001063783 RCV004000504 RCV005004158 RCV005791857
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)	SNV Germline	Chr1:201062077	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079417	rs_757840865	4 SubmittersRCV000437112 RCV000534363 RCV002480310 RCV006550046
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala)	SNV Germline	Chr1:201066962	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079088	rs_369192794	7 SubmittersRCV000425186 RCV001861555 RCV004000425 RCV005004156 RCV004965454
NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)	SNV Germline	Chr1:201092032	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083605	rs_138265497	4 SubmittersRCV000419892 RCV001243309 RCV006550029
NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)	SNV Germline	Chr1:201083173	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078171	rs_143202536	5 SubmittersRCV000442859 RCV000706844 RCV004000598 RCV002488987
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)	SNV Germline	Chr1:201041533	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083723	rs_201310235	5 SubmittersRCV000440915 RCV001230161 RCV002522473 RCV005004157 RCV006550053
NM_000069.3(CACNA1S):c.208G>A (p.Val70Met)	SNV Germline	Chr1:201110214	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078801	rs_771706267	3 SubmittersRCV000436745 RCV001088952 RCV006550054
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)	SNV Germline	Chr1:201041534	Conflicting classifications of pathogenicity	not specified Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083722	rs_550371466	10 SubmittersRCV000454946 RCV000782224 RCV000814679 RCV001096066 RCV004751528 RCV005010330 RCV005239013 RCV006550070 RCV005355786
NM_000069.3(CACNA1S):c.1948+1G>A	SNV Germline	Chr1:201075494	Conflicting classifications of pathogenicity	not specified Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078688	rs_745712829	6 SubmittersRCV000455181 RCV000782247 RCV001218682 RCV006458363 RCV004000600
NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)	SNV Germline	Chr1:201047546	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16617038	rs_970352258	7 SubmittersRCV000481252 RCV001851232 RCV002481522 RCV003449232 RCV003449231 RCV003458442 RCV003449233
NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)	SNV Germline	Chr1:201066267	Pathogenic/Likely pathogenic	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA16617039	rs_367983954	3 SubmittersRCV000485404 RCV001851237 RCV003449236 RCV003449237
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)	SNV Germline	Chr1:201073607	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 not specified Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078805	rs_147112322	9 SubmittersRCV000485685 RCV000697159 RCV001288113 RCV001724025 RCV004751562 RCV005010393
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser)	SNV Germline	Chr1:201083186	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078164	rs_372374492	5 SubmittersRCV000482187 RCV001212349 RCV002475950 RCV002526955 RCV004003404
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)	SNV Germline	Chr1:201091715	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083926	rs_767571919	4 SubmittersRCV000483307 RCV000528426 RCV002526575 RCV006550220
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)	SNV Germline	Chr1:201094018	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA079143	rs_140330831	10 SubmittersRCV000651220 RCV000729718 RCV001356134 RCV001356678 RCV001356834 RCV002526644 RCV002481529
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)	SNV Germline	Chr1:201078005	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078266	rs_150590855	9 SubmittersRCV000487733 RCV000697677 RCV001096477 RCV003168987 RCV005401467 RCV005010400
NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)	SNV Germline	Chr1:201043413	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 not specified Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083624	rs_146885451	7 SubmittersRCV000489613 RCV000703733 RCV002527025 RCV002506187 RCV004701542 RCV006550241
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)	SNV Germline	Chr1:201074521	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078757	rs_141031133	6 SubmittersRCV000494517 RCV000688405 RCV001262359 RCV004003478 RCV005004190
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)	SNV Germline	Chr1:201075539	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078659	rs_144590408	5 SubmittersRCV000494538 RCV001856961 RCV004003477 RCV006342308
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)	SNV Germline	Chr1:201089385	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083997	rs_35534614	8 SubmittersRCV000514356 RCV001081811 RCV003517213 RCV003935341 RCV005004204
NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)	SNV Germline	Chr1:201060785	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Intellectual disability	Criteria Provided Conflicting Classifications	CA079631	rs_142102094	7 SubmittersRCV000517687 RCV000651222 RCV001755763 RCV004003589 RCV005010469 RCV005625655
NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)	SNV Germline	Chr1:201078006	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078265	rs_532351874	7 SubmittersRCV000518320 RCV001241845 RCV003487271 RCV004023496 RCV005004207 RCV006550272
NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)	SNV Germline	Chr1:201092023	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083622	rs_747238231	6 SubmittersRCV000517318 RCV001098317 RCV001321210 RCV003517214 RCV005532679
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)	SNV Germline	Chr17:63941930	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis SCN4A-related non-dystrophic myotonia Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA292957365	rs_748517635	5 SubmittersRCV000532008 RCV002267617 RCV002305499 RCV002473036
NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp)	SNV Germline	Chr1:201069555	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA35973564	rs_561979536	2 SubmittersRCV000520364 RCV000796556
NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)	SNV Germline	Chr1:201069581	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078972	rs_760674518	5 SubmittersRCV000519296 RCV001225189 RCV005010484 RCV006550292
NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His)	SNV Germline	Chr1:201083299	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078097	rs_370861322	5 SubmittersRCV000522132 RCV000811193 RCV003456085 RCV003456086 RCV003458449 RCV003449493 RCV005010481
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)	SNV Germline	Chr1:201092031	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083608	rs_141521945	4 SubmittersRCV000522368 RCV000801970 RCV003159691 RCV006550288
NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln)	SNV Germline	Chr1:201049032	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083217	rs_752196801	4 SubmittersRCV000525294 RCV005532692 RCV005648024 RCV006550425
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)	SNV Germline	Chr1:201077915	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA35978916	rs_80338777	5 SubmittersRCV000549801 RCV002293456 RCV002491092 RCV003419987 RCV003517221
NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter)	SNV Germline	Chr1:201077995	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344121959	rs_762294904	1 SubmittersRCV000536378
NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys)	SNV Germline	Chr1:201039903	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 not specified Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083898	rs_141556780	5 SubmittersRCV000535113 RCV004586790 RCV005641692 RCV005010524 RCV006550427
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)	SNV Germline	Chr1:201040302	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA083800	rs_200434921	7 SubmittersRCV000544824 RCV001096065 RCV001257060 RCV003517223 RCV005010523 RCV005431759
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)	SNV Germline	Chr1:201054507	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082696	rs_202240111	6 SubmittersRCV000559232 RCV002530229 RCV003419988 RCV003999454
NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp)	SNV Germline	Chr1:201069495	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079004	rs_199758244	6 SubmittersRCV000554629 RCV002483487 RCV003999450 RCV004691253
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)	SNV Germline	Chr1:201085495	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA077944	rs_763360081	5 SubmittersRCV000529687 RCV001584331 RCV005004239 RCV006550419 RCV006342371
NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg)	SNV Germline	Chr1:201089260	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084033	rs_370325121	5 SubmittersRCV000542564 RCV001100001 RCV003320687 RCV003517224
NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)	SNV Germline	Chr1:201052620	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082926	rs_749856222	6 SubmittersRCV000549714 RCV002476193 RCV003223654 RCV004965570 RCV006550424
NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys)	SNV Germline	Chr1:201066284	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344102557	rs_1287079817	1 SubmittersRCV000545029
NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)	SNV Germline	Chr1:201058433	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA082633	rs_200366112	5 SubmittersRCV000546815 RCV003487272 RCV005004242 RCV006550423 RCV005791894
NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala)	SNV Germline	Chr1:201075591	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078626	rs_149195094	3 SubmittersRCV000532209 RCV005010522 RCV006550421
NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly)	SNV Germline	Chr1:201092053	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases CACNA1S-related disorder Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083461	rs_761768992	5 SubmittersRCV000526070 RCV004024262 RCV004751601 RCV005630751 RCV006550426
NM_000069.3(CACNA1S):c.695-5T>A	SNV Germline	Chr1:201089468	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA528536752	rs_1487979476	2 SubmittersRCV000541007 RCV002483488
NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe)	SNV Germline	Chr1:201112247	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084070	rs_556751671	6 SubmittersRCV000555155 RCV000765034 RCV002060354 RCV003338664 RCV006550428
NM_000069.3(CACNA1S):c.-4A>G	SNV Germline	Chr1:201112343	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083652	rs_200408018	4 SubmittersRCV000579186 RCV001102103 RCV003517228
NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro)	SNV Germline	Chr1:201053568	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082755	rs_774416016	2 SubmittersRCV002051711 RCV002061992
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)	SNV Germline	Chr1:201092011	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA35996896	rs_201998231	6 SubmittersRCV000599312 RCV000699379 RCV002498880 RCV003451352 RCV003456099
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)	SNV Germline	Chr1:201091973	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083849	rs_138245131	4 SubmittersRCV000610265 RCV000822871 RCV003905583 RCV003517240
NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=)	SNV Germline	Chr1:201083265	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA422691707	rs_1241905770	4 SubmittersRCV000614872 RCV002529688 RCV003451420 RCV003451421 RCV003458473 RCV003451422
NM_000069.3(CACNA1S):c.4114-3C>T	SNV Germline	Chr1:201050519	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083110	rs_182873269	3 SubmittersRCV001044201 RCV001707818 RCV006552497
NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=)	SNV Germline	Chr1:201066316	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079205	rs_140924492	5 SubmittersRCV001242982 RCV001718903 RCV006552471 RCV005791903
NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)	SNV Germline	Chr1:201043333	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083650	rs_145340252	5 SubmittersRCV000613062 RCV001313278 RCV003456104 RCV003456105 RCV003456106 RCV003458476 RCV004601221
NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)	SNV Germline	Chr1:201053493	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082807	rs_530655602	6 SubmittersRCV000651253 RCV001084742 RCV003953182 RCV004601236 RCV006552622
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)	SNV Germline	Chr1:201043468	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA1321791	rs_756066219	4 SubmittersRCV000651212 RCV002530539 RCV005004304 RCV006552618
NM_000069.3(CACNA1S):c.5049-2A>G	SNV Germline	Chr1:201041591	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Condition: not provided not specified Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083706	rs_148989517	6 SubmittersRCV000651268 RCV002248848 RCV002260656 RCV002469236 RCV005004308 RCV006552625
NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)	SNV Germline	Chr1:201044407	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 CACNA1S-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA083555	rs_183195890	9 SubmittersRCV000651269 RCV002493045 RCV003451581 RCV003451580 RCV003458497 RCV003451582 RCV003953183 RCV004025825 RCV004792337
NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)	SNV Germline	Chr1:201047600	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083380	rs_149036408	6 SubmittersRCV000711146 RCV001515531 RCV003451565 RCV003451564 RCV003451566 RCV003458489 RCV005010632
NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)	SNV Germline	Chr1:201048683	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 not specified Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083251	rs_377474103	8 SubmittersRCV000651224 RCV001574964 RCV003451555 RCV003451556 RCV003456115 RCV003458485 RCV005000459 RCV005004306
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=)	SNV Germline	Chr1:201040363	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA35989714	rs_374660431	3 SubmittersRCV000651262 RCV004004095
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)	SNV Germline	Chr1:201077941	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078399	rs_200066766	5 SubmittersRCV000651227 RCV004004092 RCV005623352 RCV005004307
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr)	SNV Germline	Chr1:201083207	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078156	rs_150218077	5 SubmittersRCV000651229 RCV002477451 RCV005357867 RCV005870731
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys)	SNV Germline	Chr1:201078033	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078252	rs_138364213	8 SubmittersRCV000658423 RCV001096478 RCV001855376 RCV003392506 RCV002536327 RCV004004191 RCV005010641
NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)	SNV Germline	Chr1:201061332	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079587	rs_138837077	4 SubmittersRCV000700646 RCV001310554 RCV006552754
NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)	SNV Germline	Chr1:201076970	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078557	rs_138541733	5 SubmittersRCV000699806 RCV001262360 RCV002485714 RCV005603656 RCV006552750
NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser)	SNV Germline	Chr1:201110169	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079052	rs_369931782	4 SubmittersRCV000687088 RCV000765033 RCV004026255 RCV006552684
NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)	SNV Germline	Chr1:201044435	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083540	rs_368421264	4 SubmittersRCV000707372 RCV001555937 RCV005532747 RCV006552783
NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)	SNV Germline	Chr1:201060666	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079656	rs_145039828	5 SubmittersRCV000686554 RCV004004250 RCV002547103 RCV005004363
NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)	SNV Germline	Chr1:201061431	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA1321811	rs_777328046	3 SubmittersRCV000707737 RCV002477637 RCV006552786
NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys)	SNV Germline	Chr1:201066245	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079234	rs_375318710	5 SubmittersRCV000688155 RCV002477536 RCV004004277 RCV005532731
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)	SNV Germline	Chr1:201058487	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA082611	rs_774511818	3 SubmittersRCV000695256 RCV003517258 RCV004792393
NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)	SNV Germline	Chr1:201092059	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA083443	rs_369332959	5 SubmittersRCV000694312 RCV003999613 RCV003389726
NM_000069.3(CACNA1S):c.4113+1G>C	SNV Germline	Chr1:201050983	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA344149424	rs_1558056376	3 SubmittersRCV000687375 RCV001784310 RCV003446347 RCV003486917
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)	SNV Germline	Chr1:201061984	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079482	rs_149658326	6 SubmittersRCV000693824 RCV003892548 RCV005004372 RCV004965679 RCV006552712 RCV004783841
NM_000069.3(CACNA1S):c.2361-3C>T	SNV Germline	Chr1:201069604	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078961	rs_774194599	4 SubmittersRCV000705596 RCV002499271 RCV003446371 RCV003446373 RCV003446370 RCV003446372
NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp)	SNV Germline	Chr1:201085526	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA077932	rs_751247956	3 SubmittersRCV000690461 RCV003999545 RCV006250841
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)	SNV Germline	Chr1:201083170	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078177	rs_146696298	6 SubmittersRCV000711137 RCV001098228 RCV000765032 RCV001078851 RCV006552788 RCV004026798
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met)	SNV Germline	Chr1:201083270	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA078114	rs_750807406	5 SubmittersRCV000714537 RCV001868336 RCV003999799 RCV006342514 RCV006272399
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)	SNV Germline	Chr1:201089258	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA35993665	rs_148317787	4 SubmittersRCV000760649 RCV002533842 RCV003453573 RCV003456139
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)	SNV Germline	Chr1:201066912	Conflicting classifications of pathogenicity	not specified Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079148	rs_202131129	5 SubmittersRCV000780079 RCV001766618 RCV001856184 RCV004001512
NM_000069.3(CACNA1S):c.4113+1G>A	SNV Germline	Chr1:201050983	Pathogenic/Likely pathogenic	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA344149425	rs_1558056376	5 SubmittersRCV000782244 RCV001378977 RCV003141766 RCV003446433 RCV005012304
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	SNV Germline	Chr1:201053459	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA082845	rs_201627041	7 SubmittersRCV000782249 RCV001377927 RCV003453617 RCV003453618 RCV005004416
NM_000069.3(CACNA1S):c.2491-1G>T	SNV Germline	Chr1:201069197	Likely pathogenic	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Single Submitter	CA344106187	rs_1558067283	2 SubmittersRCV000782245 RCV005004415
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)	SNV Germline	Chr1:201070363	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078912	rs_770073633	8 SubmittersRCV000782246 RCV001869163 RCV002493430 RCV003453616 RCV003456143 RCV003456144 RCV003458516
NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)	SNV Germline	Chr1:201041509	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344132769	rs_1189622818	2 SubmittersRCV000796914 RCV002501055
NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)	SNV Germline	Chr1:201041533	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083724	rs_201310235	6 SubmittersRCV000801799 RCV002282371 RCV004028075 RCV004001641 RCV005004433
NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)	SNV Germline	Chr1:201043342	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083643	rs_141618437	5 SubmittersRCV000819326 RCV003938175 RCV004721636 RCV005012370 RCV006545558
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)	SNV Germline	Chr1:201043357	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Inborn genetic diseases CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083636	rs_147392278	5 SubmittersRCV000791823 RCV001805856 RCV002535852 RCV003975321 RCV006552837
NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)	SNV Germline	Chr1:201044339	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083571	rs_751048080	3 SubmittersRCV000807837 RCV003353041 RCV005004439
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)	SNV Germline	Chr1:201044394	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083561	rs_202120583	3 SubmittersRCV000797715 RCV003517268 RCV005012324
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)	SNV Germline	Chr1:201047144	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083476	rs_757433005	4 SubmittersRCV000794541 RCV000994222 RCV005012319 RCV006552847
NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)	SNV Germline	Chr1:201050460	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083135	rs_371849585	6 SubmittersRCV000810717 RCV002281136 RCV002537341 RCV005012350 RCV006545525
NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)	SNV Germline	Chr1:201050464	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083133	rs_756438139	5 SubmittersRCV000822773 RCV001508030 RCV003517272 RCV005012378
NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)	SNV Germline	Chr1:201051072	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344150419	rs_563795648	1 SubmittersRCV000794912
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)	SNV Germline	Chr1:201053568	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082753	rs_774416016	4 SubmittersRCV000813312 RCV001776027 RCV002495139 RCV006545532
NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)	SNV Germline	Chr1:201061409	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079553	rs_774884290	4 SubmittersRCV000810949 RCV002487763 RCV003225128 RCV005401622
NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)	SNV Germline	Chr1:201062027	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344163455	rs_1572035834	1 SubmittersRCV000797345
NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)	SNV Germline	Chr1:201062034	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079453	rs_747618077	5 SubmittersRCV000796459 RCV001336099 RCV003166141 RCV005004429 RCV006552852
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)	SNV Germline	Chr1:201066248	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079232	rs_139935847	6 SubmittersRCV000820172 RCV001571550 RCV002495170 RCV004002821
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)	SNV Germline	Chr1:201066951	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079119	rs_201205904	5 SubmittersRCV000800242 RCV003517269 RCV003489884 RCV005004432
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)	SNV Germline	Chr1:201069582	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078970	rs_373328930	5 SubmittersRCV000820892 RCV002495172 RCV004002826 RCV004029052
NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)	SNV Germline	Chr1:201070336	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078922	rs_771865391	7 SubmittersRCV000803519 RCV001585731 RCV003453673 RCV003453675 RCV003458533 RCV003453674 RCV003908099 RCV004702433 RCV004601284
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)	SNV Germline	Chr1:201075596	Pathogenic/Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA344117381	rs_1572048220	3 SubmittersRCV000824015 RCV002501148 RCV003453734 RCV003456151
NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His)	SNV Germline	Chr1:201077906	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078429	rs_748711395	6 SubmittersRCV000797737 RCV001101908 RCV004546563 RCV006552854
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)	SNV Germline	Chr1:201085002	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078030	rs_112236248	4 SubmittersRCV000807536 RCV003517271 RCV005004438 RCV005641814
NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)	SNV Germline	Chr1:201089261	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344134163	rs_1572059904	1 SubmittersRCV000804884
NM_000069.3(CACNA1S):c.755G>A (p.Arg252His)	SNV Germline	Chr1:201089403	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083988	rs_766838790	2 SubmittersRCV000803971 RCV004962817
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln)	SNV Germline	Chr1:201112254	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA084025	rs_758594181	5 SubmittersRCV000813617 RCV004001752 RCV005532774 RCV006265303
NM_000069.3(CACNA1S):c.4798-2A>G	SNV Germline	Chr1:201043533	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344137968	rs_1428157373	6 SubmittersRCV000792372 RCV001784407 RCV002473138 RCV003446434
NM_000069.3(CACNA1S):c.3525+1G>A	SNV Germline	Chr1:201059188	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344158026	rs_1572033599	2 SubmittersRCV000809616 RCV006552888
NM_000069.3(CACNA1S):c.2854-2A>C	SNV Germline	Chr1:201062516	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344164754	rs_1572036396	1 SubmittersRCV000809846
NM_000069.3(CACNA1S):c.2490+5C>T	SNV Germline	Chr1:201069467	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079021	rs_369813191	4 SubmittersRCV000800505 RCV000842082 RCV003965593 RCV006552867
NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)	SNV Germline	Chr1:201066284	Pathogenic/Likely pathogenic	Hypokalemic periodic paralysis, type 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA344102559	rs_1287079817	4 SubmittersRCV000853588 RCV001310556 RCV001869308 RCV003453774
NM_000069.3(CACNA1S):c.2746-8G>C	SNV Germline	Chr1:201065953	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA915941965	rs_1572039133	2 SubmittersRCV001440269 RCV006545599
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)	SNV Germline	Chr1:201083230	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078140	rs_202217590	4 SubmittersRCV000870095 RCV001258166 RCV005630843
NM_000069.3(CACNA1S):c.1112C>T (p.Thr371Met)	SNV Germline	Chr1:201085474	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA077950	rs_150954040	3 SubmittersRCV001505735 RCV006545611 RCV005414545
NM_000069.3(CACNA1S):c.699C>T (p.Ile233=)	SNV Germline	Chr1:201089459	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083963	rs_756008578	4 SubmittersRCV000867937 RCV001096583 RCV004003010
NM_000069.3(CACNA1S):c.288C>T (p.Val96=)	SNV Germline	Chr1:201093992	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079360	rs_548832647	3 SubmittersRCV000868745 RCV004003024
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)	SNV Germline	Chr1:201065853	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA422686681	rs_759934490	6 SubmittersRCV000887743 RCV002501438 RCV003454930 RCV003454931 RCV003458569 RCV003413713 RCV003454932
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=)	SNV Germline	Chr1:201083241	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078127	rs_146400205	3 SubmittersRCV000926262 RCV004003214 RCV005004466
NM_000069.3(CACNA1S):c.744G>C (p.Thr248=)	SNV Germline	Chr1:201089414	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083984	rs_373609219	5 SubmittersRCV000932322 RCV001101989 RCV001172224 RCV004003246
NM_000069.3(CACNA1S):c.3255+10C>T	SNV Germline	Chr1:201061257	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA915941962	rs_1572035084	2 SubmittersRCV001484810 RCV005012404
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr)	SNV Germline	Chr1:201061451	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA36007458	rs_978624647	6 SubmittersRCV000986500 RCV001869336 RCV004004416 RCV006265516 RCV005432510
NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile)	SNV Unknown	Chr1:201077013	Likely pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344119936	rs_1572049461	1 SubmittersRCV000986501
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)	SNV Germline	Chr1:201039946	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083883	rs_368214163	5 SubmittersRCV001242712 RCV003883484 RCV004004423
NM_000069.3(CACNA1S):c.4543+2T>C	SNV Germline	Chr1:201047523	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344142849	rs_1572023336	4 SubmittersRCV000994223 RCV001376758 RCV003446575 RCV003446576
NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile)	SNV Germline	Chr1:201065852	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079317	rs_76460090	6 SubmittersRCV000994228 RCV003455017 RCV003455018 RCV002550662 RCV003455019 RCV003458580 RCV005004475
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly)	SNV Germline	Chr1:201066285	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA344102568	rs_1572039465	2 SubmittersRCV000994229 RCV002549855
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)	SNV Germline	Chr1:201075539	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078661	rs_144590408	5 SubmittersRCV001035245 RCV004004424 RCV005004476 RCV005532810
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)	SNV Germline	Chr1:201077907	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078427	rs_751671175	6 SubmittersRCV001101909 RCV001248214 RCV003458582 RCV003455023 RCV003455024 RCV005012426 RCV005630851
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)	SNV Germline	Chr1:201089400	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083991	rs_768015104	8 SubmittersRCV000996098 RCV003455032 RCV003455033 RCV003458583 RCV003456172 RCV003769351 RCV005012431
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His)	SNV Germline	Chr1:201047167	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA083466	rs_774256022	4 SubmittersRCV001038054 RCV004004718 RCV005004495 RCV006279297
NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln)	SNV Germline	Chr1:201047182	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA35996167	rs_891244994	4 SubmittersRCV001065639 RCV004000149 RCV005012521
NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter)	SNV Germline	Chr1:201053481	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344154314	rs_1660729290	1 SubmittersRCV001061744
NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys)	SNV Germline	Chr1:201053529	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082779	rs_750637537	2 SubmittersRCV001055832 RCV006545839
NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)	SNV Germline	Chr1:201061356	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079574	rs_757165791	4 SubmittersRCV001061466 RCV002497445 RCV005401714 RCV006347375
NM_000069.3(CACNA1S):c.2932G>A (p.Gly978Arg)	SNV Germline	Chr1:201062065	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079429	rs_760596943	3 SubmittersRCV001035425 RCV004004694
NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met)	SNV Germline	Chr1:201065897	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079298	rs_373701906	6 SubmittersRCV001070635 RCV002482134 RCV004000191 RCV005225217 RCV006347394
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)	SNV Germline	Chr1:201074514	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 not specified Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078760	rs_200844059	7 SubmittersRCV001042522 RCV002508281 RCV002481896 RCV003490022 RCV004004750
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	SNV Germline	Chr1:201077916	Pathogenic/Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA078419	rs_80338778	7 SubmittersRCV001052970 RCV002307667 RCV002505605 RCV003455233 RCV004017781 RCV004761906
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)	SNV Germline	Chr1:201083210	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078153	rs_369139165	6 SubmittersRCV001066686 RCV001531029 RCV002482104 RCV004030622 RCV004000161
NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)	SNV Germline	Chr1:201089374	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083998	rs_186538122	4 SubmittersRCV001071065 RCV002489712 RCV003455301 RCV003455302 RCV003455303 RCV003458616
NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp)	SNV Germline	Chr1:201089401	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083990	rs_555596737	3 SubmittersRCV001071805 RCV004000208 RCV005012532
NM_000069.3(CACNA1S):c.409G>A (p.Val137Met)	SNV Germline	Chr1:201092104	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA083079	rs_753195502	6 SubmittersRCV001057310 RCV002505615 RCV004000087 RCV004031806 RCV005401712
NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr)	SNV Germline	Chr1:201093976	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079500	rs_753901380	3 SubmittersRCV001056131 RCV002505610 RCV002554394
NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala)	SNV Germline	Chr1:201112197	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA36018215	rs_977298165	3 SubmittersRCV001054284 RCV003455242 RCV003455243 RCV003456182 RCV003458606 RCV005005011
NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter)	SNV Germline	Chr1:201112321	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA078741	rs_374950276	1 SubmittersRCV001060025
NM_000069.3(CACNA1S):c.5135-3C>T	SNV Germline	Chr1:201040716	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA528312286	rs_1311822511	2 SubmittersRCV001070089 RCV004000189
NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)	SNV Germline	Chr1:201044446	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083530	rs_372436488	8 SubmittersRCV001092292 RCV001437600 RCV004000216 RCV004609622 RCV005012549
NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)	SNV Germline	Chr1:201065906	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079290	rs_146903750	3 SubmittersRCV002995961 RCV005010857 RCV005401995
NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln)	SNV Germline	Chr1:201089373	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083999	rs_776311349	3 SubmittersRCV001101987 RCV002555964 RCV006545897
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)	SNV Germline	Chr1:201047567	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083395	rs_373248127	5 SubmittersRCV001099633 RCV002489743 RCV002554942 RCV006545901 RCV006347407
NM_000069.3(CACNA1S):c.4461C>T (p.Asn1487=)	SNV Germline	Chr1:201047607	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083375	rs_149668892	2 SubmittersRCV001101609 RCV001456068
NM_000069.3(CACNA1S):c.3538G>A (p.Asp1180Asn)	SNV Germline	Chr1:201058479	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA082617	rs_775845281	3 SubmittersRCV001099722 RCV004000233 RCV004963113
NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser)	SNV Germline	Chr1:201061442	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079536	rs_757112281	4 SubmittersRCV001101705 RCV001204746 RCV004000239 RCV006272425
NM_000069.3(CACNA1S):c.2892A>G (p.Thr964=)	SNV Germline	Chr1:201062476	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA422720523	rs_1181877748	2 SubmittersRCV001096282 RCV003106111
NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)	SNV Germline	Chr1:201069148	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079050	rs_764821044	5 SubmittersRCV001098033 RCV001504451 RCV003458626 RCV003455453 RCV003455454
NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)	SNV Germline	Chr1:201077110	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078494	rs_373525085	7 SubmittersRCV001099902 RCV001856354 RCV003449554 RCV003490072 RCV003449553 RCV003458628 RCV005792010
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)	SNV Germline	Chr1:201089392	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 not specified	Criteria Provided Conflicting Classifications	CA083995	rs_190152688	5 SubmittersRCV001101988 RCV001856390 RCV002489745 RCV003517298 RCV003317431
NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)	SNV Germline	Chr1:201091678	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083935	rs_771569004	5 SubmittersRCV001096584 RCV002555984 RCV003456197 RCV003458625 RCV003456198
NM_000069.3(CACNA1S):c.3953+13C>T	SNV Germline	Chr1:201052544	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082947	rs_767630424	2 SubmittersRCV001096189 RCV003769043
NM_000069.3(CACNA1S):c.1619+10G>T	SNV Germline	Chr1:201077869	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA528536612	rs_374195664	2 SubmittersRCV001099903 RCV002069681
NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr)	SNV Germline	Chr1:201061398	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079556	rs_562504992	4 SubmittersRCV001222445 RCV004010745 RCV004601406 RCV005012632
NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val)	SNV Germline	Chr1:201069509	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078995	rs_372668776	3 SubmittersRCV001223338 RCV002462843
NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys)	SNV Germline	Chr1:201044420	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA083543	rs_138768414	5 SubmittersRCV001206885 RCV002491626 RCV004010656 RCV006250961
NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)	SNV Germline	Chr1:201060738	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079640	rs_151218760	7 SubmittersRCV001211964 RCV002484157 RCV002561769 RCV003945922 RCV004010685 RCV006450906
NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys)	SNV Germline	Chr1:201061379	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079564	rs_745571736	3 SubmittersRCV001205347 RCV002561181 RCV006545943
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)	SNV Germline	Chr1:201061439	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079538	rs_751604155	3 SubmittersRCV001214058 RCV002561837 RCV003517318
NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys)	SNV Germline	Chr1:201070357	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078915	rs_777247285	3 SubmittersRCV001202456 RCV005005069 RCV006545934
NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)	SNV Germline	Chr1:201075559	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078647	rs_200743095	4 SubmittersRCV001207236 RCV002497711 RCV003413994 RCV006545952
NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr)	SNV Germline	Chr1:201091648	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083940	rs_778551098	2 SubmittersRCV001206672 RCV005402980
NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)	SNV Germline	Chr1:201091664	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083938	rs_374763528	3 SubmittersRCV001211294 RCV003311962 RCV006545968
NM_000069.3(CACNA1S):c.531G>A (p.Ser177=)	SNV Germline	Chr1:201091982	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083806	rs_750087191	4 SubmittersRCV001204636 RCV002484108 RCV004010637
NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val)	SNV Germline	Chr1:201066897	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079155	rs_553593355	3 SubmittersRCV001228544 RCV002480751 RCV006546012
NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser)	SNV Germline	Chr1:201077979	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078287	rs_554729466	3 SubmittersRCV001230911 RCV002497785 RCV004004837
NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile)	SNV Germline	Chr1:201083173	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078172	rs_143202536	3 SubmittersRCV001233206 RCV002563794 RCV005403000
NM_000069.3(CACNA1S):c.709G>A (p.Val237Met)	SNV Germline	Chr1:201089449	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083972	rs_766892095	3 SubmittersRCV001238729 RCV004004876
NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=)	SNV Germline	Chr1:201058408	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082652	rs_374324793	2 SubmittersRCV001244372 RCV006548014
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)	SNV Germline	Chr1:201069494	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079006	rs_553619980	4 SubmittersRCV001244432 RCV003487282 RCV004963292 RCV006548015
NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)	SNV Germline	Chr1:201077991	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078278	rs_140246559	6 SubmittersRCV001240073 RCV003449743 RCV003449744 RCV003449745 RCV003458653 RCV005005112 RCV005409787
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)	SNV Germline	Chr1:201089458	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083965	rs_370661912	6 SubmittersRCV001247978 RCV002499431 RCV004004912 RCV005628894 RCV005532904
NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn)	SNV Germline	Chr1:201112200	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078231	rs_372497364	3 SubmittersRCV001245317 RCV006548018 RCV005532899
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	SNV Germline	Chr1:201069596	Conflicting classifications of pathogenicity	Muscular atrophy skeletal contractures Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA344108070	rs_1157720606	6 SubmittersRCV001254711 RCV003152617 RCV003449816 RCV003145495 RCV003449815 RCV003456486
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met)	SNV Germline	Chr1:201048678	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083253	rs_542998031	2 SubmittersRCV001258165 RCV003106168
NM_000069.3(CACNA1S):c.4797+1G>A	SNV Germline	Chr1:201044327	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344138794	rs_1323823133	1 SubmittersRCV003789617
NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val)	SNV Germline	Chr1:201059260	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA082561	rs_142286187	5 SubmittersRCV001309209 RCV002476428 RCV004783947 RCV006548088 RCV004601444
NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)	SNV Germline	Chr1:201066989	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079080	rs_200334886	3 SubmittersRCV001307461 RCV005005154 RCV006548081
NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)	SNV Germline	Chr1:201069175	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344105966	rs_1356510559	3 SubmittersRCV001294279 RCV003517323
NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)	SNV Germline	Chr1:201070387	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA344109538	rs_1313818230	5 SubmittersRCV001308957 RCV002499591 RCV003458662 RCV003449883 RCV003449884 RCV003449882 RCV005630916
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)	SNV Germline	Chr1:201078032	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078255	rs_553739117	4 SubmittersRCV001297932 RCV002285472 RCV005012736 RCV006548062
NM_000069.3(CACNA1S):c.905A>G (p.Asn302Ser)	SNV Germline	Chr1:201087925	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084058	rs_765889961	2 SubmittersRCV001308361 RCV004807997
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)	SNV Germline	Chr1:201040072	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083842	rs_139945826	2 SubmittersRCV001317410 RCV002493660
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)	SNV Germline	Chr1:201047185	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083460	rs_772750589	3 SubmittersRCV001326852 RCV003159199 RCV006548143
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)	SNV Germline	Chr1:201048609	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083331	rs_201257304	5 SubmittersRCV001326518 RCV002476535 RCV004968038 RCV004590329 RCV005401828
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)	SNV Germline	Chr1:201053247	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA082868	rs_760441649	3 SubmittersRCV001326517 RCV003517325 RCV006347689
NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)	SNV Germline	Chr1:201066914	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079145	rs_200646947	5 SubmittersRCV001323805 RCV002504504 RCV003487284 RCV003517324
NM_000069.3(CACNA1S):c.258+6A>G	SNV Germline	Chr1:201110158	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA079098	rs_376899610	5 SubmittersRCV001324343 RCV003446707 RCV003446708 RCV003446706 RCV003446705 RCV005005174
NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)	SNV Germline	Chr1:201066897	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA079154	rs_553593355	4 SubmittersRCV001343372 RCV003449965 RCV003449966 RCV003458673 RCV003449967 RCV005005190 RCV006347713
NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val)	SNV Germline	Chr1:201075588	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078628	rs_776996468	3 SubmittersRCV005005858 RCV001347797 RCV004808022
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met)	SNV Germline	Chr1:201110258	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078498	rs_549107212	4 SubmittersRCV001351212 RCV002547521 RCV002493807 RCV004005239
NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn)	SNV Germline	Chr1:201049091	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 not specified Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083203	rs_372383822	5 SubmittersRCV001372444 RCV002548661 RCV005005894 RCV005912560 RCV006548232
NM_000069.3(CACNA1S):c.2974C>G (p.His992Asp)	SNV Germline	Chr1:201062023	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079461	rs_527520015	2 SubmittersRCV001364882 RCV004006786
NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys)	SNV Germline	Chr1:201062041	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079446	rs_770099347	4 SubmittersRCV001368862 RCV004006816 RCV005630930
NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu)	SNV Germline	Chr1:201062484	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079359	rs_200300308	3 SubmittersRCV001370657 RCV004006824
NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln)	SNV Germline	Chr1:201070362	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA35974019	rs_868409473	2 SubmittersRCV001370038 RCV002493886
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)	SNV Germline	Chr1:201072764	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078873	rs_752513328	5 SubmittersRCV001372783 RCV003517329 RCV003169919 RCV005005896
NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)	SNV Germline	Chr1:201089323	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084013	rs_375704313	5 SubmittersRCV001367798 RCV002285479 RCV002499751 RCV006548225
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp)	SNV Germline	Chr1:201112255	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084021	rs_577022740	4 SubmittersRCV001367207 RCV005005214 RCV004006807
NM_000069.3(CACNA1S):c.4442-2A>G	SNV Germline	Chr1:201047628	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344143650	rs_2102553716	1 SubmittersRCV001377024
NM_000069.3(CACNA1S):c.2158-2A>G	SNV Germline	Chr1:201072826	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344112764	rs_2102135936	2 SubmittersRCV001378474 RCV004006847
NM_000069.3(CACNA1S):c.4242-10C>G	SNV Germline	Chr1:201049109	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083175	rs_574154912	4 SubmittersRCV001411221 RCV002493969 RCV003446746 RCV003446748 RCV003446745 RCV003446747
NM_000069.3(CACNA1S):c.3054G>A (p.Gln1018=)	SNV Germline	Chr1:201061468	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079528	rs_141956714	2 SubmittersRCV001397477 RCV006548259
NM_000069.3(CACNA1S):c.2928G>A (p.Lys976=)	SNV Germline	Chr1:201062069	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079426	rs_759359831	2 SubmittersRCV001505315 RCV004007224
NM_000069.3(CACNA1S):c.12C>T (p.Ser4=)	SNV Germline	Chr1:201112328	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA422698335	rs_1448450110	3 SubmittersRCV001505854 RCV004007226
NM_000069.3(CACNA1S):c.3256-12T>A	SNV Germline	Chr1:201060828	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079612	rs_374335683	4 SubmittersRCV001565331 RCV004008937 RCV002573192
NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter)	SNV Germline	Chr1:201083309	Pathogenic	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344126214	rs_1303215579	3 SubmittersRCV001573974 RCV003771745
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr)	SNV Germline	Chr1:201061455	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079530	rs_551510986	4 SubmittersRCV001757784 RCV002540652 RCV002506804 RCV004009034
NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)	SNV Germline	Chr1:201049077	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA344146480	rs_1224786667	6 SubmittersRCV001758913 RCV002544177 RCV004601526 RCV004009035 RCV005006037
NM_000069.3(CACNA1S):c.3256-9G>A	SNV Germline	Chr1:201060825	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA730076403	rs_1294455750	2 SubmittersRCV001774900 RCV003772075
NM_000069.3(CACNA1S):c.3415-1G>A	SNV Germline	Chr1:201059300	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079669	rs_780724976	2 SubmittersRCV002034580 RCV006550534
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)	SNV Germline	Chr1:201048608	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083333	rs_201463541	7 SubmittersRCV002482385 RCV002543266 RCV001840886 RCV004009168
NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu)	SNV Germline	Chr1:201059286	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082551	rs_756712640	3 SubmittersRCV002025894 RCV003170560 RCV006550842
NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met)	SNV Germline	Chr1:201048587	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA083346	rs_780785403	5 SubmittersRCV002047777 RCV005008399 RCV005308678 RCV006550844 RCV005639386
NM_000069.3(CACNA1S):c.5387G>A (p.Gly1796Asp)	SNV Germline	Chr1:201040066	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083844	rs_746407476	4 SubmittersRCV001884847 RCV004010795 RCV005792197
NM_000069.3(CACNA1S):c.2063+1G>A	SNV Germline	Chr1:201074505	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344114206	rs_1407484817	3 SubmittersRCV002034158 RCV003491021 RCV004011170
NM_000069.3(CACNA1S):c.2047C>A (p.Arg683Ser)	SNV Germline	Chr1:201074522	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078756	rs_35708442	2 SubmittersRCV006550878 RCV002028046
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)	SNV Germline	Chr1:201065918	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079286	rs_138708497	4 SubmittersRCV001877178 RCV002551094 RCV005005323 RCV006550591
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)	SNV Germline	Chr1:201039878	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA083904	rs_191263754	3 SubmittersRCV002019206 RCV002497997 RCV005639384
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)	SNV Germline	Chr1:201083321	Pathogenic/Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA078080	rs_767052156	4 SubmittersRCV002037707 RCV002479575 RCV003453849 RCV003453850
NM_000069.3(CACNA1S):c.4858C>G (p.Pro1620Ala)	SNV Germline	Chr1:201043471	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083612	rs_199691275	3 SubmittersRCV001922803 RCV005535116 RCV006550647
NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)	SNV Germline	Chr1:201053508	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082794	rs_775009783	6 SubmittersRCV001917839 RCV002260713 RCV002554327 RCV005002644 RCV006550648
NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr)	SNV Germline	Chr1:201040030	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344129593	rs_1170882286	2 SubmittersRCV001949818 RCV006550706
NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile)	SNV Germline	Chr1:201076928	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078581	rs_377461013	4 SubmittersRCV002029875 RCV005006093 RCV005241469
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)	SNV Germline	Chr1:201077967	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078364	rs_748021245	4 SubmittersRCV003491002 RCV006550828 RCV005520653 RCV001992037
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)	SNV Germline	Chr1:201089332	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084010	rs_757755172	4 SubmittersRCV001935612 RCV003490939 RCV004010878
NM_000069.3(CACNA1S):c.695-1G>A	SNV Germline	Chr1:201089464	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344137244	rs_1213421499	2 SubmittersRCV002002715 RCV005401887
NM_000069.3(CACNA1S):c.3526-3C>T	SNV Germline	Chr1:201058494	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082605	rs_753852308	3 SubmittersRCV001999220 RCV004808184
NM_000069.3(CACNA1S):c.3678G>C (p.Glu1226Asp)	SNV Germline	Chr1:201053576	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082743	rs_769524894	2 SubmittersRCV001938672 RCV004010883
NM_000069.3(CACNA1S):c.2962C>T (p.Arg988Cys)	SNV Germline	Chr1:201062035	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079450	rs_143722841	2 SubmittersRCV001938673 RCV006550686
NM_000069.3(CACNA1S):c.1233-1G>A	SNV Germline	Chr1:201083323	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA078063	rs_760082356	3 SubmittersRCV002022552 RCV002282680 RCV003446985
NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser)	SNV Germline	Chr1:201110183	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA078980	rs_752667224	3 SubmittersRCV001903409 RCV004010831 RCV005002651
NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter)	SNV Germline	Chr1:201050457	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA083139	rs_761239255	1 SubmittersRCV001981869
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile)	SNV Germline	Chr1:201047543	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083410	rs_775885648	3 SubmittersRCV001942463 RCV002482533 RCV004009218
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)	SNV Germline	Chr1:201084978	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078036	rs_756022224	4 SubmittersRCV001903346 RCV003314707 RCV002478296 RCV006550639
NM_000069.3(CACNA1S):c.2853+18C>T	SNV Germline	Chr1:201065820	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079327	rs_768391679	2 SubmittersRCV001917060 RCV002484561
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser)	SNV Germline	Chr1:201066274	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA344102465	rs_2102582533	3 SubmittersRCV002025822 RCV002307830 RCV005638615
NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)	SNV Germline	Chr1:201040302	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083801	rs_200434921	4 SubmittersRCV002038246 RCV002486665 RCV003458818 RCV003456271 RCV003456272 RCV003453957
NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln)	SNV Germline	Chr1:201076969	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078560	rs_113812219	5 SubmittersRCV001978602 RCV002592635 RCV002497977 RCV004011081
NM_000069.3(CACNA1S):c.5049-6T>C	SNV Germline	Chr1:201041595	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA083709	rs_372192645	3 SubmittersRCV001957182 RCV004010901 RCV005412323
NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter)	SNV Germline	Chr1:201040372	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344131516	rs_1434902604	1 SubmittersRCV001993393
NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr)	SNV Germline	Chr1:201093996	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079319	rs_550479246	4 SubmittersRCV001957912 RCV005006273 RCV006550735 RCV005432862
NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp)	SNV Germline	Chr1:201044365	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA083565	rs_749495704	4 SubmittersRCV001931288 RCV004010912 RCV005432853
NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu)	SNV Germline	Chr1:201076966	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078566	rs_762032797	3 SubmittersRCV001915519 RCV002482793 RCV006550652
NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)	SNV Germline	Chr1:201089451	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083969	rs_767790285	5 SubmittersRCV002001260 RCV004011066 RCV005535221 RCV005002755
NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr)	SNV Germline	Chr1:201040016	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083874	rs_777333498	2 SubmittersRCV001884012 RCV006550620
NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg)	SNV Germline	Chr1:201054513	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA082687	rs_776908038	3 SubmittersRCV001944023 RCV004010935 RCV005006257
NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp)	SNV Germline	Chr1:201077968	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078360	rs_758354862	4 SubmittersRCV004010967 RCV002484733 RCV004970614 RCV001981525
NM_000069.3(CACNA1S):c.3053+19C>G	SNV Germline	Chr1:201061925	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA079503	rs_372276351	3 SubmittersRCV001909627 RCV002503570 RCV003446948 RCV003446949 RCV003446950 RCV003446947
NM_000069.3(CACNA1S):c.2482A>G (p.Arg828Gly)	SNV Germline	Chr1:201069480	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344106484	rs_1174225838	2 SubmittersRCV001866951 RCV004808138
NM_000069.3(CACNA1S):c.5572C>T (p.Leu1858Phe)	SNV Germline	Chr1:201039881	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA344128262	rs_1356229958	3 SubmittersRCV004808193 RCV002027248 RCV004970806
NM_000069.3(CACNA1S):c.3885G>A (p.Val1295=)	SNV Germline	Chr1:201052625	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA422719429	rs_1660694623	2 SubmittersRCV002151065 RCV004005481
NM_000069.3(CACNA1S):c.1151-13C>A	SNV Germline	Chr1:201085044	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA077987	rs_200273802	3 SubmittersRCV002160788 RCV004005486
NM_000069.3(CACNA1S):c.1619+16G>A	SNV Germline	Chr1:201077863	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078446	rs_148454228	2 SubmittersRCV002073533 RCV005002794
NM_000069.3(CACNA1S):c.564C>T (p.Ser188=)	SNV Germline	Chr1:201091770	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083910	rs_769008033	2 SubmittersRCV002110022 RCV004005441
NM_000069.3(CACNA1S):c.216G>C (p.Leu72=)	SNV Germline	Chr1:201110206	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078863	rs_754538534	2 SubmittersRCV002095836 RCV004005361
NM_000069.3(CACNA1S):c.3425A>G (p.Gln1142Arg)	SNV Germline	Chr1:201059289	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082550	rs_139373152	3 SubmittersRCV002195722 RCV004005516
NM_000069.3(CACNA1S):c.3690C>T (p.Ile1230=)	SNV Germline	Chr1:201053564	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA422719625	rs_1246570435	2 SubmittersRCV002076003 RCV004005422
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)	SNV Germline	Chr1:201043446	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA083621	rs_576536458	6 SubmittersRCV002176965 RCV003149015 RCV004011197 RCV005002793
NM_000069.3(CACNA1S):c.1948+11G>A	SNV Germline	Chr1:201075484	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078683	rs_199852936	3 SubmittersRCV002122531 RCV004711821 RCV005008462
NM_000069.3(CACNA1S):c.648G>A (p.Glu216=)	SNV Germline	Chr1:201091686	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA35996528	rs_200633947	3 SubmittersRCV002122602 RCV004005394
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)	SNV Germline	Chr1:201077027	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078529	rs_773440873	6 SubmittersRCV002288338 RCV003325600 RCV003101662 RCV005008524
NM_000069.3(CACNA1S):c.2293C>T (p.Gln765Ter)	SNV Germline	Chr1:201070339	Likely pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344109104	rs_2464539498	1 SubmittersRCV002289494
NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser)	SNV Germline	Chr1:201066274	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344102474	rs_2102582533	2 SubmittersRCV002306242 RCV003102288
NM_000083.3(CLCN1):c.2014C>G (p.Arg672Gly)	SNV Germline	Chr7:143345604	Pathogenic	Hypokalemic periodic paralysis, type 1	No Assertion Criteria Provided	CA369649885	rs_778587934	1 SubmittersRCV002306245
NM_000069.3(CACNA1S):c.5254G>A (p.Glu1752Lys)	SNV Germline	Chr1:201040347	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083789	rs_747004063	3 SubmittersRCV003076692 RCV004009327
NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)	SNV Germline	Chr1:201060811	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079627	rs_34515088	3 SubmittersRCV003068704 RCV005010945 RCV004808407
NM_000069.3(CACNA1S):c.3610-12T>G	SNV Germline	Chr1:201054573	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA36003297	rs_754526467	3 SubmittersRCV003058564 RCV004009320
NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)	SNV Germline	Chr1:201047218	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083447	rs_763242241	3 SubmittersRCV003069764 RCV004721111 RCV006546316
NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter)	SNV Germline	Chr1:201040625	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344131688	rs_1451363764	2 SubmittersRCV003078873 RCV004808419
NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala)	SNV Germline	Chr1:201070282	Conflicting classifications of pathogenicity	Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078936	rs_755964792	3 SubmittersRCV003077777 RCV003077778 RCV004009367
NM_000069.3(CACNA1S):c.258+2T>C	SNV Germline	Chr1:201110162	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA344155586	rs_1663041820	2 SubmittersRCV003092933 RCV005002953
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)	SNV Germline	Chr1:201053539	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344154758	rs_28930069	2 SubmittersRCV003080081 RCV004009412
NM_000069.3(CACNA1S):c.4172G>A (p.Trp1391Ter)	SNV Germline	Chr1:201050458	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344148481	rs_2464443951	1 SubmittersRCV002588291
NM_000069.3(CACNA1S):c.2064-5C>T	SNV Germline	Chr1:201073647	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA730084171	rs_1233259784	2 SubmittersRCV002637072 RCV006546398
NM_000069.3(CACNA1S):c.4339C>A (p.Arg1447=)	SNV Germline	Chr1:201048684	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA36000451	rs_758909185	2 SubmittersRCV002654547 RCV006435302
NM_000069.3(CACNA1S):c.5199A>C (p.Arg1733Ser)	SNV Germline	Chr1:201040649	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344131914	rs_1490186766	2 SubmittersRCV002629601 RCV004009524
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)	SNV Germline	Chr1:201066909	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079149	rs_573597311	4 SubmittersRCV002647291 RCV004009491 RCV005002970
NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)	SNV Germline	Chr1:201062017	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079469	rs_369941827	4 SubmittersRCV002637771 RCV005011075 RCV005623503 RCV006546410
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)	SNV Germline	Chr1:201061410	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1321809	rs_1473668614	6 SubmittersRCV002628591 RCV003491260 RCV004009498 RCV005011071 RCV005323375
NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met)	SNV Germline	Chr1:201070321	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078924	rs_778705388	3 SubmittersRCV002638202 RCV004009519
NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser)	SNV Germline	Chr1:201073641	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078791	rs_753313121	4 SubmittersRCV002607759 RCV003491258 RCV004070653 RCV005403291
NM_000069.3(CACNA1S):c.47C>T (p.Pro16Leu)	SNV Germline	Chr1:201112293	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA083598	rs_768611153	2 SubmittersRCV002624398 RCV005415658
NM_000069.3(CACNA1S):c.5312G>A (p.Ser1771Asn)	SNV Germline	Chr1:201040289	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083804	rs_761605711	2 SubmittersRCV003117924 RCV004009573
NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)	SNV Germline	Chr1:201110241	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078582	rs_147382463	4 SubmittersRCV003104780 RCV004725634 RCV005011206 RCV006546435
NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser)	SNV Germline	Chr1:201059274	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082558	rs_762768883	3 SubmittersRCV003120083 RCV004009585
NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)	SNV Germline	Chr1:201047564	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344143120	rs_1263776472	2 SubmittersRCV002575936 RCV005008611
NM_000069.3(CACNA1S):c.4610T>C (p.Met1537Thr)	SNV Germline	Chr1:201047173	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083462	rs_771685251	2 SubmittersRCV002579832 RCV004007486
NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)	SNV Germline	Chr1:201062033	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079456	rs_778128095	3 SubmittersRCV002572843 RCV005008622 RCV006546021
NM_000069.3(CACNA1S):c.1366C>T (p.Gln456Ter)	SNV Germline	Chr1:201083189	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344125214	rs_1440652791	1 SubmittersRCV002613554
NM_000069.3(CACNA1S):c.1282A>T (p.Ile428Phe)	SNV Germline	Chr1:201083273	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078111	rs_756504992	2 SubmittersRCV002642837 RCV003340530
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)	SNV Germline	Chr1:201089368	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA084002	rs_779029870	5 SubmittersRCV002727016 RCV004007566 RCV005008721 RCV005639432
NM_000069.3(CACNA1S):c.4819C>T (p.Gln1607Ter)	SNV Germline	Chr1:201043510	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344137776	rs_1342285831	1 SubmittersRCV002805994
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)	SNV Germline	Chr1:201083290	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078106	rs_768968718	4 SubmittersRCV002780742 RCV003481333 RCV004007600
NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter)	SNV Germline	Chr1:201089364	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344135898	rs_2464614456	1 SubmittersRCV002806462
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)	SNV Germline	Chr1:201043479	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344137438	rs_1313984683	4 SubmittersRCV002886044 RCV004066004 RCV005008781 RCV006546144
NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)	SNV Germline	Chr1:201070315	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078925	rs_566562378	4 SubmittersRCV002895751 RCV005002898 RCV004750783 RCV006546153
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)	SNV Germline	Chr1:201075554	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078650	rs_150646872	6 SubmittersRCV002882236 RCV004007657 RCV003409948 RCV005008775 RCV005628958
NM_000069.3(CACNA1S):c.1090C>T (p.Arg364Trp)	SNV Germline	Chr1:201085496	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA077941	rs_529038948	2 SubmittersRCV002882128 RCV006546139
NM_000069.3(CACNA1S):c.1022G>A (p.Arg341Gln)	SNV Germline	Chr1:201085564	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA077917	rs_369136264	2 SubmittersRCV002886517 RCV004066027
NM_000069.3(CACNA1S):c.3760C>T (p.Arg1254Ter)	SNV Germline	Chr1:201053494	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts	CA344154388	rs_200034567	2 SubmittersRCV002894973 RCV005622192
NM_000069.3(CACNA1S):c.2258C>T (p.Pro753Leu)	SNV Germline	Chr1:201070374	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078902	rs_190705834	3 SubmittersRCV002919024 RCV005869945 RCV006546167
NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg)	SNV Germline	Chr1:201061954	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079494	rs_202242262	2 SubmittersRCV002957605 RCV005403254
NM_000069.3(CACNA1S):c.754C>T (p.Arg252Cys)	SNV Germline	Chr1:201089404	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083987	rs_151005797	2 SubmittersRCV002952962 RCV004007712
NM_000069.3(CACNA1S):c.1294A>G (p.Lys432Glu)	SNV Germline	Chr1:201083261	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078119	rs_757788424	3 SubmittersRCV005627464 RCV006546181 RCV002948311
NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr)	SNV Germline	Chr1:201039922	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083894	rs_145195149	3 SubmittersRCV002982420 RCV005794436 RCV006546206
NM_000069.3(CACNA1S):c.1749G>A (p.Gly583=)	SNV Germline	Chr1:201076998	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA422689410	rs_2102142398	2 SubmittersRCV003057834 RCV004009288
NM_000069.3(CACNA1S):c.2853+1G>T	SNV Germline	Chr1:201065837	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344101158	rs_2464518149	1 SubmittersRCV003057506
NM_000069.3(CACNA1S):c.724C>T (p.Pro242Ser)	SNV Germline	Chr1:201089434	Conflicting classifications of pathogenicity	Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083975	rs_376595247	3 SubmittersRCV002763370 RCV005011127 RCV006560872
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)	SNV Germline	Chr1:201112308	Conflicting classifications of pathogenicity	Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344158674	rs_1420388292	4 SubmittersRCV003217186 RCV003779707 RCV004009670 RCV005003037
NM_000069.3(CACNA1S):c.5119C>G (p.Pro1707Ala)	SNV Germline	Chr1:201041519	Conflicting classifications of pathogenicity	Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA344132867	rs_1426011893	3 SubmittersRCV003262587 RCV006548503 RCV006561318
NM_000069.3(CACNA1S):c.1707C>G (p.Phe569Leu)	SNV Germline	Chr1:201077040	Likely pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344120095	rs_2464567071	1 SubmittersRCV003314509
NM_000069.3(CACNA1S):c.2699G>T (p.Arg900Met)	SNV Germline	Chr1:201066275	Pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344102480	rs_2464520880	1 SubmittersRCV003320006
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)	SNV Germline	Chr1:201040641	Conflicting classifications of pathogenicity	CACNA1S-related disorder Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083758	rs_765797870	3 SubmittersRCV003399971 RCV003778212 RCV004808485
NM_000069.3(CACNA1S):c.293C>T (p.Ser98Leu)	SNV Germline	Chr1:201093987	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344145692	rs_1310029541	2 SubmittersRCV003517867 RCV006562602
NM_000069.3(CACNA1S):c.5226+1G>A	SNV Germline	Chr1:201040621	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344131660	rs_2464393390	1 SubmittersRCV003782120
NM_000069.3(CACNA1S):c.2276G>A (p.Arg759His)	SNV Germline	Chr1:201070356	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078917	rs_771314646	3 SubmittersRCV003782393 RCV006548868 RCV005631241
NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His)	SNV Germline	Chr1:201043374	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083629	rs_567364021	4 SubmittersRCV003782472 RCV004805605 RCV005537683
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)	SNV Germline	Chr1:201072815	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 not specified Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078861	rs_756920981	5 SubmittersRCV003796043 RCV003988149 RCV004006019 RCV006251282
NM_000069.3(CACNA1S):c.1983G>A (p.Val661=)	SNV Germline	Chr1:201074586	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078736	rs_763510435	2 SubmittersRCV003780982 RCV006548841
NM_000069.3(CACNA1S):c.4798-5C>G	SNV Germline	Chr1:201043536	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA730082558	rs_375500585	3 SubmittersRCV003781475 RCV004805601
NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=)	SNV Germline	Chr1:201069577	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078974	rs_200730765	2 SubmittersRCV003789562 RCV005003712
NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)	SNV Germline	Chr1:201043405	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA35992730	rs_148724065	4 SubmittersRCV003789322 RCV004005977 RCV005003711
NM_000069.3(CACNA1S):c.4416C>T (p.Arg1472=)	SNV Germline	Chr1:201048607	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA422718780	rs_1162767709	2 SubmittersRCV003789385 RCV004005980
NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter)	SNV Germline	Chr1:201112216	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA344157756	rs_1553254275	2 SubmittersRCV003787594 RCV006264146
NM_000069.3(CACNA1S):c.2491-2A>G	SNV Germline	Chr1:201069198	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344106214	rs_2464534175	1 SubmittersRCV003787650
NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn)	SNV Germline	Chr1:201053574	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082748	rs_745672876	3 SubmittersRCV003786130 RCV004005947
NM_000069.3(CACNA1S):c.5215G>A (p.Ala1739Thr)	SNV Germline	Chr1:201040633	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA083760	rs_542268566	3 SubmittersRCV003788326 RCV004605033 RCV006455761
NM_000069.3(CACNA1S):c.1944C>T (p.Gly648=)	SNV Germline	Chr1:201075499	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078675	rs_145733062	3 SubmittersRCV003786440 RCV006548845 RCV006548846
NM_000069.3(CACNA1S):c.5049-12C>G	SNV Germline	Chr1:201041601	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA1219569652	rs_1660213551	3 SubmittersRCV003792706 RCV004006007 RCV005003713
NM_000069.3(CACNA1S):c.2812C>T (p.Leu938=)	SNV Germline	Chr1:201065879	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079303	rs_751604761	2 SubmittersRCV003794080 RCV005433467
NM_000069.3(CACNA1S):c.2762T>C (p.Met921Thr)	SNV Germline	Chr1:201065929	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079277	rs_765793568	2 SubmittersRCV003806908 RCV004805611
NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter)	SNV Germline	Chr1:201061950	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344163154	rs_2464500667	1 SubmittersRCV003805655
NM_000069.3(CACNA1S):c.1948+2T>C	SNV Germline	Chr1:201075493	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter	CA344116443	rs_1185268927	1 SubmittersRCV003802641
NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)	SNV Germline	Chr1:201047165	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Multiple Submitters No Conflicts	CA344141866	rs_1351956022	2 SubmittersRCV003817944 RCV006264156
NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)	SNV Germline	Chr1:201051096	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083031	rs_146158332	5 SubmittersRCV003818041 RCV005537694 RCV004721229 RCV005013201 RCV006548909
NM_000069.3(CACNA1S):c.3667-7C>G	SNV Germline	Chr1:201053594	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA36002794	rs_774905373	2 SubmittersRCV004006081 RCV003813218
NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)	SNV Germline	Chr1:201051122	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344150900	rs_2464447576	1 SubmittersRCV003810249
NM_000069.3(CACNA1S):c.2228-1G>A	SNV Germline	Chr1:201070405	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344109743	rs_2464539907	1 SubmittersRCV003810338
NM_000069.3(CACNA1S):c.2511C>G (p.Ile837Met)	SNV Germline	Chr1:201069176	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344105968	rs_764647345	2 SubmittersRCV004007868 RCV005220818
NM_000069.3(CACNA1S):c.695-14C>G	SNV Germline	Chr1:201089477	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA528536755	rs_1262968798	2 SubmittersRCV004007936 RCV006564572
NM_000069.3(CACNA1S):c.136A>G (p.Ser46Gly)	SNV Germline	Chr1:201112204	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344157633	rs_773923999	2 SubmittersRCV004013089 RCV005220831
NM_000069.3(CACNA1S):c.4404T>A (p.Phe1468Leu)	SNV Germline	Chr1:201048619	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083326	rs_373506089	3 SubmittersRCV004014393 RCV006564598
NM_000069.3(CACNA1S):c.3542C>G (p.Pro1181Arg)	SNV Germline	Chr1:201058475	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA082619	rs_144935943	2 SubmittersRCV004012440 RCV006564652
NM_000069.3(CACNA1S):c.430G>A (p.Val144Ile)	SNV Germline	Chr1:201092083	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA344142503	rs_1295305811	3 SubmittersRCV004016223 RCV005220845
NM_000069.3(CACNA1S):c.5065G>A (p.Glu1689Lys)	SNV Germline	Chr1:201041573	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083713	rs_769271960	2 SubmittersRCV004015237 RCV005220855
NM_000069.3(CACNA1S):c.1393+1G>T	SNV Germline	Chr1:201083161	Likely pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV004795450
NM_000069.3(CACNA1S):c.4107C>T (p.Ala1369=)	SNV Germline	Chr1:201050990	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004805727 RCV005006570
NM_000069.3(CACNA1S):c.3667-3C>T	SNV Germline	Chr1:201053590	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004805738 RCV005003812
NM_000069.3(CACNA1S):c.1731C>T (p.Gly577=)	SNV Germline	Chr1:201077016	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications			3 SubmittersRCV004805791 RCV006565386
NM_000069.3(CACNA1S):c.1785C>T (p.Ser595=)	SNV Germline	Chr1:201076962	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV005003111 RCV006551342
NM_000069.3(CACNA1S):c.4113+2T>C	SNV Germline	Chr1:201050982	Likely pathogenic	Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Single Submitter			1 SubmittersRCV005009365
NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)	SNV Germline	Chr1:201051123	Likely pathogenic	Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Single Submitter			1 SubmittersRCV005009403
NM_000069.3(CACNA1S):c.2658-2A>C	SNV Germline	Chr1:201066318	Likely pathogenic	Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Single Submitter			1 SubmittersRCV005005755
NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)	SNV Germline	Chr1:201040666	Likely pathogenic	Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Single Submitter			1 SubmittersRCV005005655
NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)	SNV Germline	Chr1:201091983	Likely pathogenic	Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Single Submitter			1 SubmittersRCV005012000
NM_000069.3(CACNA1S):c.646G>A (p.Glu216Lys)	SNV Germline	Chr1:201091688	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005221755 RCV006567128
NM_000069.3(CACNA1S):c.3275C>T (p.Ala1092Val)	SNV Germline	Chr1:201060797	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter			1 SubmittersRCV005216620
NM_000069.3(CACNA1S):c.3339C>A (p.Tyr1113Ter)	SNV Germline	Chr1:201060733	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter			1 SubmittersRCV005212438
NM_000069.3(CACNA1S):c.1005-1G>A	SNV Germline	Chr1:201085582	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter			1 SubmittersRCV005218115
NM_000069.3(CACNA1S):c.389T>A (p.Val130Asp)	SNV Germline	Chr1:201093891	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter			1 SubmittersRCV005224610
NM_000069.3(CACNA1S):c.4524G>C (p.Gln1508His)	SNV Germline	Chr1:201047544	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV005226717 RCV006553466
NM_000069.3(CACNA1S):c.4338+1G>A	SNV Germline	Chr1:201049002	Likely pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter			1 SubmittersRCV005226930
NM_000069.3(CACNA1S):c.1377G>A (p.Trp459Ter)	SNV Germline	Chr1:201083178	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter			1 SubmittersRCV005224918
NM_000069.3(CACNA1S):c.2170G>A (p.Glu724Lys)	SNV Germline	Chr1:201072812	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005225028 RCV005311231
NM_000069.3(CACNA1S):c.2054A>G (p.Lys685Arg)	SNV Germline	Chr1:201074515	Conflicting classifications of pathogenicity	Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV005316132 RCV006567320
NM_000069.3(CACNA1S):c.2386G>A (p.Val796Ile)	SNV Germline	Chr1:201069576	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV006554909 RCV006570051
NM_000069.3(CACNA1S):c.2400G>A (p.Trp800Ter)	SNV Germline	Chr1:201069562	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter			1 SubmittersRCV006595074

NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)

SNV
Germline

Chr17:63941940

Pathogenic

Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Condition: not provided
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA117835

rs_121908544

9 SubmittersRCV000006258 RCV000206951 RCV000255921 RCV001813736 RCV003989102

NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)

SNV
Germline

Chr17:63959270

Pathogenic

Hypokalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 1
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253653

rs_80338785

5 SubmittersRCV000006276 RCV000020262 RCV000206901 RCV001092728

NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)

SNV
Germline

Chr1:201053538

Pathogenic

Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Multiple Submitters
No Conflicts

CA004054

rs_28930068

15 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003450645 RCV003992159

NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)

SNV
Germline

Chr1:201053539

Pathogenic

Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA004048

rs_28930069

7 SubmittersRCV000019191 RCV000518061 RCV000693727 RCV003450646

NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)

SNV
Germline

Chr1:201077915

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
CACNA1S-related disorder
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA004021

rs_80338777

18 SubmittersRCV000019192 RCV000414449 RCV000627794 RCV004751219 RCV005003389 RCV006547500

NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)

SNV
Germline

Chr1:201066283

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
not specified
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA004032

rs_80338779

4 SubmittersRCV000019197 RCV000455686 RCV000822757

NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)

SNV
Germline

Chr1:201066917

Likely pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA004028

rs_267606698

3 SubmittersRCV000019198

NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly)

SNV
Germline

Chr1:201077916

Pathogenic

Hypokalemic periodic paralysis, type 1

No Assertion Criteria Provided

CA004020

rs_80338778

2 SubmittersRCV000020093

NM_000069.3(CACNA1S):c.3189C>T (p.Phe1063=)

SNV
Germline

Chr1:201061333

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079585

rs_150020550

5 SubmittersRCV000344251 RCV000516744 RCV000874413 RCV003996559

NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)

SNV
Germline

Chr17:63947082

Pathogenic

Hypokalemic periodic paralysis, type 2
Condition: not provided
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 1
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA345720

rs_527236150

9 SubmittersRCV000132737 RCV000254971 RCV000797599 RCV002305449 RCV005016463

NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser)

SNV
Germline

Chr1:201060816

Likely pathogenic

Condition: not provided
Malignant hyperthermia of anesthesia
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA004036

rs_80338782

4 SubmittersRCV000144372 RCV004017419 RCV005008047

NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)

SNV
Germline

Chr1:201051037

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 1
not specified
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA004058

rs_145910245

12 SubmittersRCV000148444 RCV000181043 RCV000586717 RCV001081599 RCV002225085 RCV003917462 RCV005305968

NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)

SNV
Germline

Chr1:201043324

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA004070

rs_199989324

4 SubmittersRCV002918364 RCV003517439 RCV003418637

NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)

SNV
Germline

Chr1:201091983

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Long QT syndrome
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA004075

rs_141204958

13 SubmittersRCV000210886 RCV000455562 RCV000651228 RCV000755673 RCV000996101 RCV003318365 RCV005008109 RCV005361087 RCV005402868

NM_000069.3(CACNA1S):c.3526-2A>G

SNV
Germline

Chr1:201058493

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA276128

rs_797045031

2 SubmittersRCV000191067 RCV001376984

NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)

SNV
Germline

Chr1:201062005

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Hypokalemic periodic paralysis, type 1
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079474

rs_116347156

5 SubmittersRCV000210902 RCV000320288 RCV000493592 RCV001079169 RCV003517149

NM_000069.3(CACNA1S):c.1458G>A (p.Leu486=)

SNV
Germline

Chr1:201078040

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078249

rs_528563981

6 SubmittersRCV000246687 RCV000372195 RCV000863576 RCV002500845 RCV003332158 RCV006547912

NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser)

SNV
Germline

Chr1:201093897

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082871

rs_139491817

8 SubmittersRCV000242506 RCV000367694 RCV000711144 RCV001082151 RCV003165683 RCV005401403

NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)

SNV
Germline

Chr1:201078005

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
not specified
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078268

rs_150590855

12 SubmittersRCV000277233 RCV000326557 RCV000415659 RCV000560360 RCV000656816 RCV002519032

NM_000069.3(CACNA1S):c.5008T>A (p.Tyr1670Asn)

SNV
Germline

Chr1:201043321

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083665

rs_146696748

7 SubmittersRCV000362920 RCV000815102 RCV003454872 RCV003458395 RCV003454873 RCV005401415

NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)

SNV
Germline

Chr1:201043447

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083619

rs_200848930

5 SubmittersRCV000692277 RCV000711148 RCV005003622 RCV005401416

NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His)

SNV
Germline

Chr1:201047237

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083441

rs_764330337

7 SubmittersRCV000380331 RCV000810862 RCV001356451 RCV005305998 RCV006547958

NM_000069.3(CACNA1S):c.2979C>A (p.Ser993Arg)

SNV
Germline

Chr1:201062018

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA10608734

rs_146497999

7 SubmittersRCV000290207 RCV002221220 RCV003454890 RCV003458406 RCV004021408 RCV005222879

NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=)

SNV
Germline

Chr1:201062491

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079358

rs_138328785

4 SubmittersRCV000295985 RCV000865777 RCV003995798

NM_000069.3(CACNA1S):c.2754G>A (p.Val918=)

SNV
Germline

Chr1:201065937

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA10608735

rs_150708636

4 SubmittersRCV000338620 RCV000651248 RCV003884450 RCV006547963

NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)

SNV
Germline

Chr1:201085443

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
not specified
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA077973

rs_144883479

7 SubmittersRCV000324715 RCV000866071 RCV001288112 RCV002292504 RCV002504041 RCV006547969

NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg)

SNV
Germline

Chr1:201054543

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
not specified
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082677

rs_148870919

7 SubmittersRCV000372331 RCV000651218 RCV001092293 RCV004999254 RCV006547962

NM_000069.3(CACNA1S):c.1903A>G (p.Met635Val)

SNV
Germline

Chr1:201075540

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078658

rs_201784750

5 SubmittersRCV000376805 RCV000552279 RCV001705442 RCV006547965

NM_000069.3(CACNA1S):c.1678G>A (p.Ala560Thr)

SNV
Germline

Chr1:201077069

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078518

rs_763794604

5 SubmittersRCV000381485 RCV001850519 RCV003417940 RCV003995801

NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)

SNV
Germline

Chr1:201083203

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078157

rs_35521793

5 SubmittersRCV000263862 RCV000484498 RCV000697995 RCV003165797 RCV003517182

NM_000069.3(CACNA1S):c.909T>C (p.Asp303=)

SNV
Germline

Chr1:201087921

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084059

rs_760398733

3 SubmittersRCV000325894 RCV001421972 RCV006547970

NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)

SNV
Germline

Chr1:201039943

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083885

rs_200765341

6 SubmittersRCV000398256 RCV000551485 RCV001571219 RCV003957538 RCV006547955

NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=)

SNV
Germline

Chr1:201044349

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA10609292

rs_752911523

4 SubmittersRCV000396474 RCV001485565 RCV003977832 RCV003995797

NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)

SNV
Germline

Chr1:201047606

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083377

rs_533353353

4 SubmittersRCV000376799 RCV000554452 RCV001463001 RCV006547959

NM_000069.3(CACNA1S):c.4437G>A (p.Thr1479=)

SNV
Germline

Chr1:201048586

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083347

rs_200538716

4 SubmittersRCV000352167 RCV000994224 RCV001447393 RCV006547960

NM_000069.3(CACNA1S):c.3904C>T (p.Arg1302Trp)

SNV
Germline

Chr1:201052606

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082928

rs_780390034

4 SubmittersRCV000337244 RCV001364039 RCV002508209 RCV006547961

NM_000069.3(CACNA1S):c.1945A>C (p.Asn649His)

SNV
Germline

Chr1:201075498

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Inborn genetic diseases
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078677

rs_760246258

8 SubmittersRCV000267151 RCV000651225 RCV000994231 RCV003298356 RCV005008267 RCV005402900

NM_000069.3(CACNA1S):c.1885G>A (p.Gly629Arg)

SNV
Germline

Chr1:201075558

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078649

rs_147888089

5 SubmittersRCV000265931 RCV001295829 RCV005008268 RCV005003624 RCV006547966

NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)

SNV
Germline

Chr1:201077002

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078549

rs_377459546

6 SubmittersRCV000299085 RCV000689050 RCV001753751 RCV005008269 RCV006547967

NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=)

SNV
Germline

Chr1:201083187

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078162

rs_767568799

3 SubmittersRCV000397226 RCV001466152 RCV006547968

NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=)

SNV
Germline

Chr1:201043511

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083604

rs_146619460

4 SubmittersRCV000281287 RCV001850517 RCV002504037 RCV006547956

NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)

SNV
Germline

Chr1:201089269

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA084030

rs_138205421

7 SubmittersRCV000296457 RCV000811152 RCV003454913 RCV003454912 RCV003458419 RCV005008270

NM_000069.3(CACNA1S):c.398+3G>A

SNV
Germline

Chr1:201093879

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083015

rs_764710968

6 SubmittersRCV000651213 RCV000835462 RCV003517183 RCV005008271

NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=)

SNV
Germline

Chr1:201044373

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083563

rs_763069723

3 SubmittersRCV000351633 RCV000555819 RCV006547957

NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His)

SNV
Germline

Chr1:201062040

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
not specified
CACNA1S-related disorder
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079447

rs_140453525

7 SubmittersRCV000345175 RCV001241998 RCV001705441 RCV003401281 RCV003910073 RCV005008266 RCV005402899

NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)

SNV
Germline

Chr1:201066950

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079124

rs_545411173

5 SubmittersRCV000329590 RCV000867936 RCV003221891 RCV006547964

NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)

SNV
Germline

Chr1:201069522

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
not specified
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

CA078993

rs_139956524

11 SubmittersRCV000397662 RCV000524917 RCV001081318 RCV001723879 RCV003517181 RCV003957539

NM_000069.3(CACNA1S):c.2100G>A (p.Thr700=)

SNV
Germline

Chr1:201073606

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078808

rs_774160640

5 SubmittersRCV000317251 RCV000651242 RCV003910074 RCV003995799

NM_000069.3(CACNA1S):c.1949-7C>T

SNV
Germline

Chr1:201074627

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
CACNA1S-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078725

rs_368564115

6 SubmittersRCV000400031 RCV000545576 RCV003445866 RCV003445867 RCV003445868 RCV003940101 RCV004725150

NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met)

SNV
Germline

Chr1:201077119

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078485

rs_777962341

4 SubmittersRCV001850520 RCV002494914 RCV003995802

NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)

SNV
Germline

Chr1:201089415

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083982

rs_200665694

8 SubmittersRCV000357931 RCV000553064 RCV000996099 RCV006547971

NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)

SNV
Germline

Chr1:201091736

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083920

rs_527702358

6 SubmittersRCV000383532 RCV000704043 RCV001775757 RCV002522094 RCV006547973

NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val)

SNV
Germline

Chr1:201085016

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078019

rs_148770452

5 SubmittersRCV000414075 RCV000699469 RCV000996097 RCV005004145 RCV006549985

NM_000069.3(CACNA1S):c.3414+3A>T

SNV
Germline

Chr1:201060655

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA16603474

rs_892742196

6 SubmittersRCV000529294 RCV002264936 RCV003897864 RCV003996060 RCV005010322

NM_000069.3(CACNA1S):c.2835C>T (p.Ile945=)

SNV
Germline

Chr1:201065856

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079309

rs_753072795

5 SubmittersRCV000438310 RCV001096284 RCV001482700 RCV004000475

NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)

SNV
Germline

Chr1:201047211

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083451

rs_765581827

6 SubmittersRCV000422829 RCV001397065 RCV003456072 RCV003458436 RCV003456073 RCV003456074 RCV004711096

NM_000069.3(CACNA1S):c.3844G>T (p.Ala1282Ser)

SNV
Germline

Chr1:201053226

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA082876

rs_774300377

6 SubmittersRCV000420857 RCV001063783 RCV004000504 RCV005004158 RCV005791857

NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)

SNV
Germline

Chr1:201062077

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079417

rs_757840865

4 SubmittersRCV000437112 RCV000534363 RCV002480310 RCV006550046

NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala)

SNV
Germline

Chr1:201066962

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079088

rs_369192794

7 SubmittersRCV000425186 RCV001861555 RCV004000425 RCV005004156 RCV004965454

NM_000069.3(CACNA1S):c.481G>A (p.Val161Ile)

SNV
Germline

Chr1:201092032

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083605

rs_138265497

4 SubmittersRCV000419892 RCV001243309 RCV006550029

NM_000069.3(CACNA1S):c.1382C>A (p.Thr461Asn)

SNV
Germline

Chr1:201083173

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078171

rs_143202536

5 SubmittersRCV000442859 RCV000706844 RCV004000598 RCV002488987

NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)

SNV
Germline

Chr1:201041533

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083723

rs_201310235

5 SubmittersRCV000440915 RCV001230161 RCV002522473 RCV005004157 RCV006550053

NM_000069.3(CACNA1S):c.208G>A (p.Val70Met)

SNV
Germline

Chr1:201110214

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078801

rs_771706267

3 SubmittersRCV000436745 RCV001088952 RCV006550054

NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)

SNV
Germline

Chr1:201041534

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA083722

rs_550371466

10 SubmittersRCV000454946 RCV000782224 RCV000814679 RCV001096066 RCV004751528 RCV005010330 RCV005239013 RCV006550070 RCV005355786

NM_000069.3(CACNA1S):c.1948+1G>A

SNV
Germline

Chr1:201075494

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078688

rs_745712829

6 SubmittersRCV000455181 RCV000782247 RCV001218682 RCV006458363 RCV004000600

NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)

SNV
Germline

Chr1:201047546

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16617038

rs_970352258

7 SubmittersRCV000481252 RCV001851232 RCV002481522 RCV003449232 RCV003449231 RCV003458442 RCV003449233

NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)

SNV
Germline

Chr1:201066267

Pathogenic/Likely pathogenic

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16617039

rs_367983954

3 SubmittersRCV000485404 RCV001851237 RCV003449236 RCV003449237

NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)

SNV
Germline

Chr1:201073607

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
not specified
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078805

rs_147112322

9 SubmittersRCV000485685 RCV000697159 RCV001288113 RCV001724025 RCV004751562 RCV005010393

NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser)

SNV
Germline

Chr1:201083186

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078164

rs_372374492

5 SubmittersRCV000482187 RCV001212349 RCV002475950 RCV002526955 RCV004003404

NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)

SNV
Germline

Chr1:201091715

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083926

rs_767571919

4 SubmittersRCV000483307 RCV000528426 RCV002526575 RCV006550220

NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)

SNV
Germline

Chr1:201094018

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA079143

rs_140330831

10 SubmittersRCV000651220 RCV000729718 RCV001356134 RCV001356678 RCV001356834 RCV002526644 RCV002481529

NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His)

SNV
Germline

Chr1:201078005

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078266

rs_150590855

9 SubmittersRCV000487733 RCV000697677 RCV001096477 RCV003168987 RCV005401467 RCV005010400

NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)

SNV
Germline

Chr1:201043413

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
not specified
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083624

rs_146885451

7 SubmittersRCV000489613 RCV000703733 RCV002527025 RCV002506187 RCV004701542 RCV006550241

NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)

SNV
Germline

Chr1:201074521

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078757

rs_141031133

6 SubmittersRCV000494517 RCV000688405 RCV001262359 RCV004003478 RCV005004190

NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)

SNV
Germline

Chr1:201075539

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078659

rs_144590408

5 SubmittersRCV000494538 RCV001856961 RCV004003477 RCV006342308

NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)

SNV
Germline

Chr1:201089385

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083997

rs_35534614

8 SubmittersRCV000514356 RCV001081811 RCV003517213 RCV003935341 RCV005004204

NM_000069.3(CACNA1S):c.3287G>A (p.Arg1096His)

SNV
Germline

Chr1:201060785

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Intellectual disability

Criteria Provided
Conflicting Classifications

CA079631

rs_142102094

7 SubmittersRCV000517687 RCV000651222 RCV001755763 RCV004003589 RCV005010469 RCV005625655

NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)

SNV
Germline

Chr1:201078006

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078265

rs_532351874

7 SubmittersRCV000518320 RCV001241845 RCV003487271 RCV004023496 RCV005004207 RCV006550272

NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)

SNV
Germline

Chr1:201092023

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083622

rs_747238231

6 SubmittersRCV000517318 RCV001098317 RCV001321210 RCV003517214 RCV005532679

NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)

SNV
Germline

Chr17:63941930

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
SCN4A-related non-dystrophic myotonia
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292957365

rs_748517635

5 SubmittersRCV000532008 RCV002267617 RCV002305499 RCV002473036

NM_000069.3(CACNA1S):c.2407A>G (p.Asn803Asp)

SNV
Germline

Chr1:201069555

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA35973564

rs_561979536

2 SubmittersRCV000520364 RCV000796556

NM_000069.3(CACNA1S):c.2381G>A (p.Arg794His)

SNV
Germline

Chr1:201069581

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078972

rs_760674518

5 SubmittersRCV000519296 RCV001225189 RCV005010484 RCV006550292

NM_000069.3(CACNA1S):c.1256G>A (p.Arg419His)

SNV
Germline

Chr1:201083299

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078097

rs_370861322

5 SubmittersRCV000522132 RCV000811193 RCV003456085 RCV003456086 RCV003458449 RCV003449493 RCV005010481

NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)

SNV
Germline

Chr1:201092031

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083608

rs_141521945

4 SubmittersRCV000522368 RCV000801970 RCV003159691 RCV006550288

NM_000069.3(CACNA1S):c.4309A>C (p.Lys1437Gln)

SNV
Germline

Chr1:201049032

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083217

rs_752196801

4 SubmittersRCV000525294 RCV005532692 RCV005648024 RCV006550425

NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)

SNV
Germline

Chr1:201077915

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA35978916

rs_80338777

5 SubmittersRCV000549801 RCV002293456 RCV002491092 RCV003419987 RCV003517221

NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter)

SNV
Germline

Chr1:201077995

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344121959

rs_762294904

1 SubmittersRCV000536378

NM_000069.3(CACNA1S):c.5550C>A (p.Asn1850Lys)

SNV
Germline

Chr1:201039903

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
not specified
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083898

rs_141556780

5 SubmittersRCV000535113 RCV004586790 RCV005641692 RCV005010524 RCV006550427

NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)

SNV
Germline

Chr1:201040302

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA083800

rs_200434921

7 SubmittersRCV000544824 RCV001096065 RCV001257060 RCV003517223 RCV005010523 RCV005431759

NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)

SNV
Germline

Chr1:201054507

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082696

rs_202240111

6 SubmittersRCV000559232 RCV002530229 RCV003419988 RCV003999454

NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp)

SNV
Germline

Chr1:201069495

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079004

rs_199758244

6 SubmittersRCV000554629 RCV002483487 RCV003999450 RCV004691253

NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)

SNV
Germline

Chr1:201085495

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA077944

rs_763360081

5 SubmittersRCV000529687 RCV001584331 RCV005004239 RCV006550419 RCV006342371

NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg)

SNV
Germline

Chr1:201089260

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084033

rs_370325121

5 SubmittersRCV000542564 RCV001100001 RCV003320687 RCV003517224

NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)

SNV
Germline

Chr1:201052620

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082926

rs_749856222

6 SubmittersRCV000549714 RCV002476193 RCV003223654 RCV004965570 RCV006550424

NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys)

SNV
Germline

Chr1:201066284

Pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344102557

rs_1287079817

1 SubmittersRCV000545029

NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)

SNV
Germline

Chr1:201058433

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA082633

rs_200366112

5 SubmittersRCV000546815 RCV003487272 RCV005004242 RCV006550423 RCV005791894

NM_000069.3(CACNA1S):c.1852T>G (p.Ser618Ala)

SNV
Germline

Chr1:201075591

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078626

rs_149195094

3 SubmittersRCV000532209 RCV005010522 RCV006550421

NM_000069.3(CACNA1S):c.460A>G (p.Ser154Gly)

SNV
Germline

Chr1:201092053

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
CACNA1S-related disorder
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083461

rs_761768992

5 SubmittersRCV000526070 RCV004024262 RCV004751601 RCV005630751 RCV006550426

NM_000069.3(CACNA1S):c.695-5T>A

SNV
Germline

Chr1:201089468

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA528536752

rs_1487979476

2 SubmittersRCV000541007 RCV002483488

NM_000069.3(CACNA1S):c.93G>C (p.Leu31Phe)

SNV
Germline

Chr1:201112247

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084070

rs_556751671

6 SubmittersRCV000555155 RCV000765034 RCV002060354 RCV003338664 RCV006550428

NM_000069.3(CACNA1S):c.-4A>G

SNV
Germline

Chr1:201112343

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083652

rs_200408018

4 SubmittersRCV000579186 RCV001102103 RCV003517228

NM_000069.3(CACNA1S):c.3686G>C (p.Arg1229Pro)

SNV
Germline

Chr1:201053568

Conflicting classifications of pathogenicity

Malignant hyperthermia of anesthesia
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082755

rs_774416016

2 SubmittersRCV002051711 RCV002061992

NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)

SNV
Germline

Chr1:201092011

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA35996896

rs_201998231

6 SubmittersRCV000599312 RCV000699379 RCV002498880 RCV003451352 RCV003456099

NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)

SNV
Germline

Chr1:201091973

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083849

rs_138245131

4 SubmittersRCV000610265 RCV000822871 RCV003905583 RCV003517240

NM_000069.3(CACNA1S):c.1290G>A (p.Lys430=)

SNV
Germline

Chr1:201083265

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA422691707

rs_1241905770

4 SubmittersRCV000614872 RCV002529688 RCV003451420 RCV003451421 RCV003458473 RCV003451422

NM_000069.3(CACNA1S):c.4114-3C>T

SNV
Germline

Chr1:201050519

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083110

rs_182873269

3 SubmittersRCV001044201 RCV001707818 RCV006552497

NM_000069.3(CACNA1S):c.2658G>A (p.Glu886=)

SNV
Germline

Chr1:201066316

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079205

rs_140924492

5 SubmittersRCV001242982 RCV001718903 RCV006552471 RCV005791903

NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)

SNV
Germline

Chr1:201043333

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083650

rs_145340252

5 SubmittersRCV000613062 RCV001313278 RCV003456104 RCV003456105 RCV003456106 RCV003458476 RCV004601221

NM_000069.3(CACNA1S):c.3761G>A (p.Arg1254Gln)

SNV
Germline

Chr1:201053493

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
CACNA1S-related disorder
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082807

rs_530655602

6 SubmittersRCV000651253 RCV001084742 RCV003953182 RCV004601236 RCV006552622

NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)

SNV
Germline

Chr1:201043468

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA1321791

rs_756066219

4 SubmittersRCV000651212 RCV002530539 RCV005004304 RCV006552618

NM_000069.3(CACNA1S):c.5049-2A>G

SNV
Germline

Chr1:201041591

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Condition: not provided
not specified
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083706

rs_148989517

6 SubmittersRCV000651268 RCV002248848 RCV002260656 RCV002469236 RCV005004308 RCV006552625

NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)

SNV
Germline

Chr1:201044407

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
CACNA1S-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083555

rs_183195890

9 SubmittersRCV000651269 RCV002493045 RCV003451581 RCV003451580 RCV003458497 RCV003451582 RCV003953183 RCV004025825 RCV004792337

NM_000069.3(CACNA1S):c.4468C>T (p.Leu1490=)

SNV
Germline

Chr1:201047600

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083380

rs_149036408

6 SubmittersRCV000711146 RCV001515531 RCV003451565 RCV003451564 RCV003451566 RCV003458489 RCV005010632

NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)

SNV
Germline

Chr1:201048683

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
not specified
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083251

rs_377474103

8 SubmittersRCV000651224 RCV001574964 RCV003451555 RCV003451556 RCV003456115 RCV003458485 RCV005000459 RCV005004306

NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=)

SNV
Germline

Chr1:201040363

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA35989714

rs_374660431

3 SubmittersRCV000651262 RCV004004095

NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)

SNV
Germline

Chr1:201077941

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078399

rs_200066766

5 SubmittersRCV000651227 RCV004004092 RCV005623352 RCV005004307

NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr)

SNV
Germline

Chr1:201083207

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078156

rs_150218077

5 SubmittersRCV000651229 RCV002477451 RCV005357867 RCV005870731

NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys)

SNV
Germline

Chr1:201078033

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
CACNA1S-related disorder
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078252

rs_138364213

8 SubmittersRCV000658423 RCV001096478 RCV001855376 RCV003392506 RCV002536327 RCV004004191 RCV005010641

NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)

SNV
Germline

Chr1:201061332

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079587

rs_138837077

4 SubmittersRCV000700646 RCV001310554 RCV006552754

NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)

SNV
Germline

Chr1:201076970

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078557

rs_138541733

5 SubmittersRCV000699806 RCV001262360 RCV002485714 RCV005603656 RCV006552750

NM_000069.3(CACNA1S):c.253G>A (p.Gly85Ser)

SNV
Germline

Chr1:201110169

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079052

rs_369931782

4 SubmittersRCV000687088 RCV000765033 RCV004026255 RCV006552684

NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)

SNV
Germline

Chr1:201044435

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083540

rs_368421264

4 SubmittersRCV000707372 RCV001555937 RCV005532747 RCV006552783

NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)

SNV
Germline

Chr1:201060666

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079656

rs_145039828

5 SubmittersRCV000686554 RCV004004250 RCV002547103 RCV005004363

NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)

SNV
Germline

Chr1:201061431

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA1321811

rs_777328046

3 SubmittersRCV000707737 RCV002477637 RCV006552786

NM_000069.3(CACNA1S):c.2729G>A (p.Arg910Lys)

SNV
Germline

Chr1:201066245

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079234

rs_375318710

5 SubmittersRCV000688155 RCV002477536 RCV004004277 RCV005532731

NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)

SNV
Germline

Chr1:201058487

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA082611

rs_774511818

3 SubmittersRCV000695256 RCV003517258 RCV004792393

NM_000069.3(CACNA1S):c.454A>G (p.Met152Val)

SNV
Germline

Chr1:201092059

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083443

rs_369332959

5 SubmittersRCV000694312 RCV003999613 RCV003389726

NM_000069.3(CACNA1S):c.4113+1G>C

SNV
Germline

Chr1:201050983

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA344149424

rs_1558056376

3 SubmittersRCV000687375 RCV001784310 RCV003446347 RCV003486917

NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)

SNV
Germline

Chr1:201061984

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079482

rs_149658326

6 SubmittersRCV000693824 RCV003892548 RCV005004372 RCV004965679 RCV006552712 RCV004783841

NM_000069.3(CACNA1S):c.2361-3C>T

SNV
Germline

Chr1:201069604

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078961

rs_774194599

4 SubmittersRCV000705596 RCV002499271 RCV003446371 RCV003446373 RCV003446370 RCV003446372

NM_000069.3(CACNA1S):c.1060C>T (p.Arg354Trp)

SNV
Germline

Chr1:201085526

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA077932

rs_751247956

3 SubmittersRCV000690461 RCV003999545 RCV006250841

NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)

SNV
Germline

Chr1:201083170

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078177

rs_146696298

6 SubmittersRCV000711137 RCV001098228 RCV000765032 RCV001078851 RCV006552788 RCV004026798

NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met)

SNV
Germline

Chr1:201083270

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078114

rs_750807406

5 SubmittersRCV000714537 RCV001868336 RCV003999799 RCV006342514 RCV006272399

NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)

SNV
Germline

Chr1:201089258

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA35993665

rs_148317787

4 SubmittersRCV000760649 RCV002533842 RCV003453573 RCV003456139

NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met)

SNV
Germline

Chr1:201066912

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079148

rs_202131129

5 SubmittersRCV000780079 RCV001766618 RCV001856184 RCV004001512

NM_000069.3(CACNA1S):c.4113+1G>A

SNV
Germline

Chr1:201050983

Pathogenic/Likely pathogenic

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA344149425

rs_1558056376

5 SubmittersRCV000782244 RCV001378977 RCV003141766 RCV003446433 RCV005012304

NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)

SNV
Germline

Chr1:201053459

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA082845

rs_201627041

7 SubmittersRCV000782249 RCV001377927 RCV003453617 RCV003453618 RCV005004416

NM_000069.3(CACNA1S):c.2491-1G>T

SNV
Germline

Chr1:201069197

Likely pathogenic

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Single Submitter

CA344106187

rs_1558067283

2 SubmittersRCV000782245 RCV005004415

NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)

SNV
Germline

Chr1:201070363

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA078912

rs_770073633

8 SubmittersRCV000782246 RCV001869163 RCV002493430 RCV003453616 RCV003456143 RCV003456144 RCV003458516

NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)

SNV
Germline

Chr1:201041509

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344132769

rs_1189622818

2 SubmittersRCV000796914 RCV002501055

NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)

SNV
Germline

Chr1:201041533

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083724

rs_201310235

6 SubmittersRCV000801799 RCV002282371 RCV004028075 RCV004001641 RCV005004433

NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)

SNV
Germline

Chr1:201043342

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083643

rs_141618437

5 SubmittersRCV000819326 RCV003938175 RCV004721636 RCV005012370 RCV006545558

NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)

SNV
Germline

Chr1:201043357

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Inborn genetic diseases
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083636

rs_147392278

5 SubmittersRCV000791823 RCV001805856 RCV002535852 RCV003975321 RCV006552837

NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)

SNV
Germline

Chr1:201044339

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083571

rs_751048080

3 SubmittersRCV000807837 RCV003353041 RCV005004439

NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)

SNV
Germline

Chr1:201044394

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083561

rs_202120583

3 SubmittersRCV000797715 RCV003517268 RCV005012324

NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)

SNV
Germline

Chr1:201047144

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083476

rs_757433005

4 SubmittersRCV000794541 RCV000994222 RCV005012319 RCV006552847

NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)

SNV
Germline

Chr1:201050460

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083135

rs_371849585

6 SubmittersRCV000810717 RCV002281136 RCV002537341 RCV005012350 RCV006545525

NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)

SNV
Germline

Chr1:201050464

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083133

rs_756438139

5 SubmittersRCV000822773 RCV001508030 RCV003517272 RCV005012378

NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)

SNV
Germline

Chr1:201051072

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344150419

rs_563795648

1 SubmittersRCV000794912

NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)

SNV
Germline

Chr1:201053568

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082753

rs_774416016

4 SubmittersRCV000813312 RCV001776027 RCV002495139 RCV006545532

NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)

SNV
Germline

Chr1:201061409

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079553

rs_774884290

4 SubmittersRCV000810949 RCV002487763 RCV003225128 RCV005401622

NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)

SNV
Germline

Chr1:201062027

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344163455

rs_1572035834

1 SubmittersRCV000797345

NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)

SNV
Germline

Chr1:201062034

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079453

rs_747618077

5 SubmittersRCV000796459 RCV001336099 RCV003166141 RCV005004429 RCV006552852

NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)

SNV
Germline

Chr1:201066248

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079232

rs_139935847

6 SubmittersRCV000820172 RCV001571550 RCV002495170 RCV004002821

NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)

SNV
Germline

Chr1:201066951

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079119

rs_201205904

5 SubmittersRCV000800242 RCV003517269 RCV003489884 RCV005004432

NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)

SNV
Germline

Chr1:201069582

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078970

rs_373328930

5 SubmittersRCV000820892 RCV002495172 RCV004002826 RCV004029052

NM_000069.3(CACNA1S):c.2296C>A (p.Leu766Met)

SNV
Germline

Chr1:201070336

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078922

rs_771865391

7 SubmittersRCV000803519 RCV001585731 RCV003453673 RCV003453675 RCV003458533 RCV003453674 RCV003908099 RCV004702433 RCV004601284

NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)

SNV
Germline

Chr1:201075596

Pathogenic/Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA344117381

rs_1572048220

3 SubmittersRCV000824015 RCV002501148 RCV003453734 RCV003456151

NM_000069.3(CACNA1S):c.1592G>A (p.Arg531His)

SNV
Germline

Chr1:201077906

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078429

rs_748711395

6 SubmittersRCV000797737 RCV001101908 RCV004546563 RCV006552854

NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)

SNV
Germline

Chr1:201085002

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078030

rs_112236248

4 SubmittersRCV000807536 RCV003517271 RCV005004438 RCV005641814

NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)

SNV
Germline

Chr1:201089261

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344134163

rs_1572059904

1 SubmittersRCV000804884

NM_000069.3(CACNA1S):c.755G>A (p.Arg252His)

SNV
Germline

Chr1:201089403

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083988

rs_766838790

2 SubmittersRCV000803971 RCV004962817

NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln)

SNV
Germline

Chr1:201112254

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA084025

rs_758594181

5 SubmittersRCV000813617 RCV004001752 RCV005532774 RCV006265303

NM_000069.3(CACNA1S):c.4798-2A>G

SNV
Germline

Chr1:201043533

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344137968

rs_1428157373

6 SubmittersRCV000792372 RCV001784407 RCV002473138 RCV003446434

NM_000069.3(CACNA1S):c.3525+1G>A

SNV
Germline

Chr1:201059188

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344158026

rs_1572033599

2 SubmittersRCV000809616 RCV006552888

NM_000069.3(CACNA1S):c.2854-2A>C

SNV
Germline

Chr1:201062516

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344164754

rs_1572036396

1 SubmittersRCV000809846

NM_000069.3(CACNA1S):c.2490+5C>T

SNV
Germline

Chr1:201069467

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079021

rs_369813191

4 SubmittersRCV000800505 RCV000842082 RCV003965593 RCV006552867

NM_000069.3(CACNA1S):c.2690G>C (p.Arg897Thr)

SNV
Germline

Chr1:201066284

Pathogenic/Likely pathogenic

Hypokalemic periodic paralysis, type 1
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA344102559

rs_1287079817

4 SubmittersRCV000853588 RCV001310556 RCV001869308 RCV003453774

NM_000069.3(CACNA1S):c.2746-8G>C

SNV
Germline

Chr1:201065953

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA915941965

rs_1572039133

2 SubmittersRCV001440269 RCV006545599

NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)

SNV
Germline

Chr1:201083230

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078140

rs_202217590

4 SubmittersRCV000870095 RCV001258166 RCV005630843

NM_000069.3(CACNA1S):c.1112C>T (p.Thr371Met)

SNV
Germline

Chr1:201085474

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA077950

rs_150954040

3 SubmittersRCV001505735 RCV006545611 RCV005414545

NM_000069.3(CACNA1S):c.699C>T (p.Ile233=)

SNV
Germline

Chr1:201089459

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083963

rs_756008578

4 SubmittersRCV000867937 RCV001096583 RCV004003010

NM_000069.3(CACNA1S):c.288C>T (p.Val96=)

SNV
Germline

Chr1:201093992

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079360

rs_548832647

3 SubmittersRCV000868745 RCV004003024

NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)

SNV
Germline

Chr1:201065853

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA422686681

rs_759934490

6 SubmittersRCV000887743 RCV002501438 RCV003454930 RCV003454931 RCV003458569 RCV003413713 RCV003454932

NM_000069.3(CACNA1S):c.1314G>A (p.Val438=)

SNV
Germline

Chr1:201083241

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078127

rs_146400205

3 SubmittersRCV000926262 RCV004003214 RCV005004466

NM_000069.3(CACNA1S):c.744G>C (p.Thr248=)

SNV
Germline

Chr1:201089414

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083984

rs_373609219

5 SubmittersRCV000932322 RCV001101989 RCV001172224 RCV004003246

NM_000069.3(CACNA1S):c.3255+10C>T

SNV
Germline

Chr1:201061257

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA915941962

rs_1572035084

2 SubmittersRCV001484810 RCV005012404

NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr)

SNV
Germline

Chr1:201061451

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA36007458

rs_978624647

6 SubmittersRCV000986500 RCV001869336 RCV004004416 RCV006265516 RCV005432510

NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile)

SNV
Unknown

Chr1:201077013

Likely pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344119936

rs_1572049461

1 SubmittersRCV000986501

NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)

SNV
Germline

Chr1:201039946

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083883

rs_368214163

5 SubmittersRCV001242712 RCV003883484 RCV004004423

NM_000069.3(CACNA1S):c.4543+2T>C

SNV
Germline

Chr1:201047523

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344142849

rs_1572023336

4 SubmittersRCV000994223 RCV001376758 RCV003446575 RCV003446576

NM_000069.3(CACNA1S):c.2839G>A (p.Val947Ile)

SNV
Germline

Chr1:201065852

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA079317

rs_76460090

6 SubmittersRCV000994228 RCV003455017 RCV003455018 RCV002550662 RCV003455019 RCV003458580 RCV005004475

NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly)

SNV
Germline

Chr1:201066285

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA344102568

rs_1572039465

2 SubmittersRCV000994229 RCV002549855

NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)

SNV
Germline

Chr1:201075539

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078661

rs_144590408

5 SubmittersRCV001035245 RCV004004424 RCV005004476 RCV005532810

NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)

SNV
Germline

Chr1:201077907

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078427

rs_751671175

6 SubmittersRCV001101909 RCV001248214 RCV003458582 RCV003455023 RCV003455024 RCV005012426 RCV005630851

NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)

SNV
Germline

Chr1:201089400

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083991

rs_768015104

8 SubmittersRCV000996098 RCV003455032 RCV003455033 RCV003458583 RCV003456172 RCV003769351 RCV005012431

NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His)

SNV
Germline

Chr1:201047167

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083466

rs_774256022

4 SubmittersRCV001038054 RCV004004718 RCV005004495 RCV006279297

NM_000069.3(CACNA1S):c.4601G>A (p.Arg1534Gln)

SNV
Germline

Chr1:201047182

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA35996167

rs_891244994

4 SubmittersRCV001065639 RCV004000149 RCV005012521

NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter)

SNV
Germline

Chr1:201053481

Pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344154314

rs_1660729290

1 SubmittersRCV001061744

NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys)

SNV
Germline

Chr1:201053529

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082779

rs_750637537

2 SubmittersRCV001055832 RCV006545839

NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)

SNV
Germline

Chr1:201061356

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079574

rs_757165791

4 SubmittersRCV001061466 RCV002497445 RCV005401714 RCV006347375

NM_000069.3(CACNA1S):c.2932G>A (p.Gly978Arg)

SNV
Germline

Chr1:201062065

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079429

rs_760596943

3 SubmittersRCV001035425 RCV004004694

NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met)

SNV
Germline

Chr1:201065897

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079298

rs_373701906

6 SubmittersRCV001070635 RCV002482134 RCV004000191 RCV005225217 RCV006347394

NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn)

SNV
Germline

Chr1:201074514

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
not specified
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078760

rs_200844059

7 SubmittersRCV001042522 RCV002508281 RCV002481896 RCV003490022 RCV004004750

NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)

SNV
Germline

Chr1:201077916

Pathogenic/Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis
Congenital myopathy 18

Criteria Provided
Multiple Submitters
No Conflicts

CA078419

rs_80338778

7 SubmittersRCV001052970 RCV002307667 RCV002505605 RCV003455233 RCV004017781 RCV004761906

NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)

SNV
Germline

Chr1:201083210

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078153

rs_369139165

6 SubmittersRCV001066686 RCV001531029 RCV002482104 RCV004030622 RCV004000161

NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp)

SNV
Germline

Chr1:201089374

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083998

rs_186538122

4 SubmittersRCV001071065 RCV002489712 RCV003455301 RCV003455302 RCV003455303 RCV003458616

NM_000069.3(CACNA1S):c.757C>T (p.Arg253Trp)

SNV
Germline

Chr1:201089401

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083990

rs_555596737

3 SubmittersRCV001071805 RCV004000208 RCV005012532

NM_000069.3(CACNA1S):c.409G>A (p.Val137Met)

SNV
Germline

Chr1:201092104

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083079

rs_753195502

6 SubmittersRCV001057310 RCV002505615 RCV004000087 RCV004031806 RCV005401712

NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr)

SNV
Germline

Chr1:201093976

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079500

rs_753901380

3 SubmittersRCV001056131 RCV002505610 RCV002554394

NM_000069.3(CACNA1S):c.143T>C (p.Val48Ala)

SNV
Germline

Chr1:201112197

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA36018215

rs_977298165

3 SubmittersRCV001054284 RCV003455242 RCV003455243 RCV003456182 RCV003458606 RCV005005011

NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter)

SNV
Germline

Chr1:201112321

Pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA078741

rs_374950276

1 SubmittersRCV001060025

NM_000069.3(CACNA1S):c.5135-3C>T

SNV
Germline

Chr1:201040716

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA528312286

rs_1311822511

2 SubmittersRCV001070089 RCV004000189

NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)

SNV
Germline

Chr1:201044446

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA083530

rs_372436488

8 SubmittersRCV001092292 RCV001437600 RCV004000216 RCV004609622 RCV005012549

NM_000069.3(CACNA1S):c.2785G>A (p.Gly929Arg)

SNV
Germline

Chr1:201065906

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079290

rs_146903750

3 SubmittersRCV002995961 RCV005010857 RCV005401995

NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln)

SNV
Germline

Chr1:201089373

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083999

rs_776311349

3 SubmittersRCV001101987 RCV002555964 RCV006545897

NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)

SNV
Germline

Chr1:201047567

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083395

rs_373248127

5 SubmittersRCV001099633 RCV002489743 RCV002554942 RCV006545901 RCV006347407

NM_000069.3(CACNA1S):c.4461C>T (p.Asn1487=)

SNV
Germline

Chr1:201047607

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083375

rs_149668892

2 SubmittersRCV001101609 RCV001456068

NM_000069.3(CACNA1S):c.3538G>A (p.Asp1180Asn)

SNV
Germline

Chr1:201058479

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA082617

rs_775845281

3 SubmittersRCV001099722 RCV004000233 RCV004963113

NM_000069.3(CACNA1S):c.3080A>G (p.Asn1027Ser)

SNV
Germline

Chr1:201061442

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079536

rs_757112281

4 SubmittersRCV001101705 RCV001204746 RCV004000239 RCV006272425

NM_000069.3(CACNA1S):c.2892A>G (p.Thr964=)

SNV
Germline

Chr1:201062476

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA422720523

rs_1181877748

2 SubmittersRCV001096282 RCV003106111

NM_000069.3(CACNA1S):c.2539A>G (p.Ile847Val)

SNV
Germline

Chr1:201069148

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA079050

rs_764821044

5 SubmittersRCV001098033 RCV001504451 RCV003458626 RCV003455453 RCV003455454

NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)

SNV
Germline

Chr1:201077110

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078494

rs_373525085

7 SubmittersRCV001099902 RCV001856354 RCV003449554 RCV003490072 RCV003449553 RCV003458628 RCV005792010

NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)

SNV
Germline

Chr1:201089392

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
not specified

Criteria Provided
Conflicting Classifications

CA083995

rs_190152688

5 SubmittersRCV001101988 RCV001856390 RCV002489745 RCV003517298 RCV003317431

NM_000069.3(CACNA1S):c.656A>G (p.Lys219Arg)

SNV
Germline

Chr1:201091678

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083935

rs_771569004

5 SubmittersRCV001096584 RCV002555984 RCV003456197 RCV003458625 RCV003456198

NM_000069.3(CACNA1S):c.3953+13C>T

SNV
Germline

Chr1:201052544

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082947

rs_767630424

2 SubmittersRCV001096189 RCV003769043

NM_000069.3(CACNA1S):c.1619+10G>T

SNV
Germline

Chr1:201077869

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA528536612

rs_374195664

2 SubmittersRCV001099903 RCV002069681

NM_000069.3(CACNA1S):c.3124G>A (p.Ala1042Thr)

SNV
Germline

Chr1:201061398

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA079556

rs_562504992

4 SubmittersRCV001222445 RCV004010745 RCV004601406 RCV005012632

NM_000069.3(CACNA1S):c.2453C>T (p.Ala818Val)

SNV
Germline

Chr1:201069509

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078995

rs_372668776

3 SubmittersRCV001223338 RCV002462843

NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys)

SNV
Germline

Chr1:201044420

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083543

rs_138768414

5 SubmittersRCV001206885 RCV002491626 RCV004010656 RCV006250961

NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)

SNV
Germline

Chr1:201060738

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Inborn genetic diseases
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079640

rs_151218760

7 SubmittersRCV001211964 RCV002484157 RCV002561769 RCV003945922 RCV004010685 RCV006450906

NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys)

SNV
Germline

Chr1:201061379

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079564

rs_745571736

3 SubmittersRCV001205347 RCV002561181 RCV006545943

NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)

SNV
Germline

Chr1:201061439

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079538

rs_751604155

3 SubmittersRCV001214058 RCV002561837 RCV003517318

NM_000069.3(CACNA1S):c.2275C>T (p.Arg759Cys)

SNV
Germline

Chr1:201070357

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078915

rs_777247285

3 SubmittersRCV001202456 RCV005005069 RCV006545934

NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=)

SNV
Germline

Chr1:201075559

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078647

rs_200743095

4 SubmittersRCV001207236 RCV002497711 RCV003413994 RCV006545952

NM_000069.3(CACNA1S):c.686T>C (p.Ile229Thr)

SNV
Germline

Chr1:201091648

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083940

rs_778551098

2 SubmittersRCV001206672 RCV005402980

NM_000069.3(CACNA1S):c.670A>G (p.Lys224Glu)

SNV
Germline

Chr1:201091664

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083938

rs_374763528

3 SubmittersRCV001211294 RCV003311962 RCV006545968

NM_000069.3(CACNA1S):c.531G>A (p.Ser177=)

SNV
Germline

Chr1:201091982

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083806

rs_750087191

4 SubmittersRCV001204636 RCV002484108 RCV004010637

NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val)

SNV
Germline

Chr1:201066897

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079155

rs_553593355

3 SubmittersRCV001228544 RCV002480751 RCV006546012

NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser)

SNV
Germline

Chr1:201077979

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078287

rs_554729466

3 SubmittersRCV001230911 RCV002497785 RCV004004837

NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile)

SNV
Germline

Chr1:201083173

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078172

rs_143202536

3 SubmittersRCV001233206 RCV002563794 RCV005403000

NM_000069.3(CACNA1S):c.709G>A (p.Val237Met)

SNV
Germline

Chr1:201089449

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083972

rs_766892095

3 SubmittersRCV001238729 RCV004004876

NM_000069.3(CACNA1S):c.3609C>T (p.Asp1203=)

SNV
Germline

Chr1:201058408

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082652

rs_374324793

2 SubmittersRCV001244372 RCV006548014

NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)

SNV
Germline

Chr1:201069494

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079006

rs_553619980

4 SubmittersRCV001244432 RCV003487282 RCV004963292 RCV006548015

NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)

SNV
Germline

Chr1:201077991

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078278

rs_140246559

6 SubmittersRCV001240073 RCV003449743 RCV003449744 RCV003449745 RCV003458653 RCV005005112 RCV005409787

NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)

SNV
Germline

Chr1:201089458

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083965

rs_370661912

6 SubmittersRCV001247978 RCV002499431 RCV004004912 RCV005628894 RCV005532904

NM_000069.3(CACNA1S):c.140T>A (p.Ile47Asn)

SNV
Germline

Chr1:201112200

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078231

rs_372497364

3 SubmittersRCV001245317 RCV006548018 RCV005532899

NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)

SNV
Germline

Chr1:201069596

Conflicting classifications of pathogenicity

Muscular atrophy
skeletal contractures
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344108070

rs_1157720606

6 SubmittersRCV001254711 RCV003152617 RCV003449816 RCV003145495 RCV003449815 RCV003456486

NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met)

SNV
Germline

Chr1:201048678

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA083253

rs_542998031

2 SubmittersRCV001258165 RCV003106168

NM_000069.3(CACNA1S):c.4797+1G>A

SNV
Germline

Chr1:201044327

Likely pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344138794

rs_1323823133

1 SubmittersRCV003789617

NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val)

SNV
Germline

Chr1:201059260

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA082561

rs_142286187

5 SubmittersRCV001309209 RCV002476428 RCV004783947 RCV006548088 RCV004601444

NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)

SNV
Germline

Chr1:201066989

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079080

rs_200334886

3 SubmittersRCV001307461 RCV005005154 RCV006548081

NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)

SNV
Germline

Chr1:201069175

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344105966

rs_1356510559

3 SubmittersRCV001294279 RCV003517323

NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)

SNV
Germline

Chr1:201070387

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA344109538

rs_1313818230

5 SubmittersRCV001308957 RCV002499591 RCV003458662 RCV003449883 RCV003449884 RCV003449882 RCV005630916

NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)

SNV
Germline

Chr1:201078032

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078255

rs_553739117

4 SubmittersRCV001297932 RCV002285472 RCV005012736 RCV006548062

NM_000069.3(CACNA1S):c.905A>G (p.Asn302Ser)

SNV
Germline

Chr1:201087925

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084058

rs_765889961

2 SubmittersRCV001308361 RCV004807997

NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)

SNV
Germline

Chr1:201040072

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083842

rs_139945826

2 SubmittersRCV001317410 RCV002493660

NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)

SNV
Germline

Chr1:201047185

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083460

rs_772750589

3 SubmittersRCV001326852 RCV003159199 RCV006548143

NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)

SNV
Germline

Chr1:201048609

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083331

rs_201257304

5 SubmittersRCV001326518 RCV002476535 RCV004968038 RCV004590329 RCV005401828

NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)

SNV
Germline

Chr1:201053247

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA082868

rs_760441649

3 SubmittersRCV001326517 RCV003517325 RCV006347689

NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)

SNV
Germline

Chr1:201066914

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079145

rs_200646947

5 SubmittersRCV001323805 RCV002504504 RCV003487284 RCV003517324

NM_000069.3(CACNA1S):c.258+6A>G

SNV
Germline

Chr1:201110158

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA079098

rs_376899610

5 SubmittersRCV001324343 RCV003446707 RCV003446708 RCV003446706 RCV003446705 RCV005005174

NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)

SNV
Germline

Chr1:201066897

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA079154

rs_553593355

4 SubmittersRCV001343372 RCV003449965 RCV003449966 RCV003458673 RCV003449967 RCV005005190 RCV006347713

NM_000069.3(CACNA1S):c.1855A>G (p.Met619Val)

SNV
Germline

Chr1:201075588

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078628

rs_776996468

3 SubmittersRCV005005858 RCV001347797 RCV004808022

NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met)

SNV
Germline

Chr1:201110258

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078498

rs_549107212

4 SubmittersRCV001351212 RCV002547521 RCV002493807 RCV004005239

NM_000069.3(CACNA1S):c.4250T>A (p.Ile1417Asn)

SNV
Germline

Chr1:201049091

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
not specified
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083203

rs_372383822

5 SubmittersRCV001372444 RCV002548661 RCV005005894 RCV005912560 RCV006548232

NM_000069.3(CACNA1S):c.2974C>G (p.His992Asp)

SNV
Germline

Chr1:201062023

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079461

rs_527520015

2 SubmittersRCV001364882 RCV004006786

NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys)

SNV
Germline

Chr1:201062041

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079446

rs_770099347

4 SubmittersRCV001368862 RCV004006816 RCV005630930

NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu)

SNV
Germline

Chr1:201062484

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079359

rs_200300308

3 SubmittersRCV001370657 RCV004006824

NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln)

SNV
Germline

Chr1:201070362

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA35974019

rs_868409473

2 SubmittersRCV001370038 RCV002493886

NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)

SNV
Germline

Chr1:201072764

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA078873

rs_752513328

5 SubmittersRCV001372783 RCV003517329 RCV003169919 RCV005005896

NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)

SNV
Germline

Chr1:201089323

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084013

rs_375704313

5 SubmittersRCV001367798 RCV002285479 RCV002499751 RCV006548225

NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp)

SNV
Germline

Chr1:201112255

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084021

rs_577022740

4 SubmittersRCV001367207 RCV005005214 RCV004006807

NM_000069.3(CACNA1S):c.4442-2A>G

SNV
Germline

Chr1:201047628

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344143650

rs_2102553716

1 SubmittersRCV001377024

NM_000069.3(CACNA1S):c.2158-2A>G

SNV
Germline

Chr1:201072826

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344112764

rs_2102135936

2 SubmittersRCV001378474 RCV004006847

NM_000069.3(CACNA1S):c.4242-10C>G

SNV
Germline

Chr1:201049109

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083175

rs_574154912

4 SubmittersRCV001411221 RCV002493969 RCV003446746 RCV003446748 RCV003446745 RCV003446747

NM_000069.3(CACNA1S):c.3054G>A (p.Gln1018=)

SNV
Germline

Chr1:201061468

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079528

rs_141956714

2 SubmittersRCV001397477 RCV006548259

NM_000069.3(CACNA1S):c.2928G>A (p.Lys976=)

SNV
Germline

Chr1:201062069

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079426

rs_759359831

2 SubmittersRCV001505315 RCV004007224

NM_000069.3(CACNA1S):c.12C>T (p.Ser4=)

SNV
Germline

Chr1:201112328

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA422698335

rs_1448450110

3 SubmittersRCV001505854 RCV004007226

NM_000069.3(CACNA1S):c.3256-12T>A

SNV
Germline

Chr1:201060828

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079612

rs_374335683

4 SubmittersRCV001565331 RCV004008937 RCV002573192

NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter)

SNV
Germline

Chr1:201083309

Pathogenic

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344126214

rs_1303215579

3 SubmittersRCV001573974 RCV003771745

NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr)

SNV
Germline

Chr1:201061455

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079530

rs_551510986

4 SubmittersRCV001757784 RCV002540652 RCV002506804 RCV004009034

NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)

SNV
Germline

Chr1:201049077

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA344146480

rs_1224786667

6 SubmittersRCV001758913 RCV002544177 RCV004601526 RCV004009035 RCV005006037

NM_000069.3(CACNA1S):c.3256-9G>A

SNV
Germline

Chr1:201060825

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA730076403

rs_1294455750

2 SubmittersRCV001774900 RCV003772075

NM_000069.3(CACNA1S):c.3415-1G>A

SNV
Germline

Chr1:201059300

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079669

rs_780724976

2 SubmittersRCV002034580 RCV006550534

NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)

SNV
Germline

Chr1:201048608

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083333

rs_201463541

7 SubmittersRCV002482385 RCV002543266 RCV001840886 RCV004009168

NM_000069.3(CACNA1S):c.3428C>T (p.Ser1143Leu)

SNV
Germline

Chr1:201059286

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082551

rs_756712640

3 SubmittersRCV002025894 RCV003170560 RCV006550842

NM_000069.3(CACNA1S):c.4436C>T (p.Thr1479Met)

SNV
Germline

Chr1:201048587

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083346

rs_780785403

5 SubmittersRCV002047777 RCV005008399 RCV005308678 RCV006550844 RCV005639386

NM_000069.3(CACNA1S):c.5387G>A (p.Gly1796Asp)

SNV
Germline

Chr1:201040066

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083844

rs_746407476

4 SubmittersRCV001884847 RCV004010795 RCV005792197

NM_000069.3(CACNA1S):c.2063+1G>A

SNV
Germline

Chr1:201074505

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344114206

rs_1407484817

3 SubmittersRCV002034158 RCV003491021 RCV004011170

NM_000069.3(CACNA1S):c.2047C>A (p.Arg683Ser)

SNV
Germline

Chr1:201074522

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078756

rs_35708442

2 SubmittersRCV006550878 RCV002028046

NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)

SNV
Germline

Chr1:201065918

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079286

rs_138708497

4 SubmittersRCV001877178 RCV002551094 RCV005005323 RCV006550591

NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)

SNV
Germline

Chr1:201039878

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083904

rs_191263754

3 SubmittersRCV002019206 RCV002497997 RCV005639384

NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)

SNV
Germline

Chr1:201083321

Pathogenic/Likely pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA078080

rs_767052156

4 SubmittersRCV002037707 RCV002479575 RCV003453849 RCV003453850

NM_000069.3(CACNA1S):c.4858C>G (p.Pro1620Ala)

SNV
Germline

Chr1:201043471

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083612

rs_199691275

3 SubmittersRCV001922803 RCV005535116 RCV006550647

NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)

SNV
Germline

Chr1:201053508

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082794

rs_775009783

6 SubmittersRCV001917839 RCV002260713 RCV002554327 RCV005002644 RCV006550648

NM_000069.3(CACNA1S):c.5423T>C (p.Met1808Thr)

SNV
Germline

Chr1:201040030

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344129593

rs_1170882286

2 SubmittersRCV001949818 RCV006550706

NM_000069.3(CACNA1S):c.1819G>A (p.Val607Ile)

SNV
Germline

Chr1:201076928

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078581

rs_377461013

4 SubmittersRCV002029875 RCV005006093 RCV005241469

NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)

SNV
Germline

Chr1:201077967

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078364

rs_748021245

4 SubmittersRCV003491002 RCV006550828 RCV005520653 RCV001992037

NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)

SNV
Germline

Chr1:201089332

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA084010

rs_757755172

4 SubmittersRCV001935612 RCV003490939 RCV004010878

NM_000069.3(CACNA1S):c.695-1G>A

SNV
Germline

Chr1:201089464

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344137244

rs_1213421499

2 SubmittersRCV002002715 RCV005401887

NM_000069.3(CACNA1S):c.3526-3C>T

SNV
Germline

Chr1:201058494

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082605

rs_753852308

3 SubmittersRCV001999220 RCV004808184

NM_000069.3(CACNA1S):c.3678G>C (p.Glu1226Asp)

SNV
Germline

Chr1:201053576

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082743

rs_769524894

2 SubmittersRCV001938672 RCV004010883

NM_000069.3(CACNA1S):c.2962C>T (p.Arg988Cys)

SNV
Germline

Chr1:201062035

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079450

rs_143722841

2 SubmittersRCV001938673 RCV006550686

NM_000069.3(CACNA1S):c.1233-1G>A

SNV
Germline

Chr1:201083323

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA078063

rs_760082356

3 SubmittersRCV002022552 RCV002282680 RCV003446985

NM_000069.3(CACNA1S):c.239A>G (p.Asn80Ser)

SNV
Germline

Chr1:201110183

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

CA078980

rs_752667224

3 SubmittersRCV001903409 RCV004010831 RCV005002651

NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter)

SNV
Germline

Chr1:201050457

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA083139

rs_761239255

1 SubmittersRCV001981869

NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile)

SNV
Germline

Chr1:201047543

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083410

rs_775885648

3 SubmittersRCV001942463 RCV002482533 RCV004009218

NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)

SNV
Germline

Chr1:201084978

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078036

rs_756022224

4 SubmittersRCV001903346 RCV003314707 RCV002478296 RCV006550639

NM_000069.3(CACNA1S):c.2853+18C>T

SNV
Germline

Chr1:201065820

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA079327

rs_768391679

2 SubmittersRCV001917060 RCV002484561

NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser)

SNV
Germline

Chr1:201066274

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA344102465

rs_2102582533

3 SubmittersRCV002025822 RCV002307830 RCV005638615

NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)

SNV
Germline

Chr1:201040302

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA083801

rs_200434921

4 SubmittersRCV002038246 RCV002486665 RCV003458818 RCV003456271 RCV003456272 RCV003453957

NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln)

SNV
Germline

Chr1:201076969

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078560

rs_113812219

5 SubmittersRCV001978602 RCV002592635 RCV002497977 RCV004011081

NM_000069.3(CACNA1S):c.5049-6T>C

SNV
Germline

Chr1:201041595

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083709

rs_372192645

3 SubmittersRCV001957182 RCV004010901 RCV005412323

NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter)

SNV
Germline

Chr1:201040372

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344131516

rs_1434902604

1 SubmittersRCV001993393

NM_000069.3(CACNA1S):c.284T>C (p.Ile95Thr)

SNV
Germline

Chr1:201093996

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079319

rs_550479246

4 SubmittersRCV001957912 RCV005006273 RCV006550735 RCV005432862

NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp)

SNV
Germline

Chr1:201044365

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083565

rs_749495704

4 SubmittersRCV001931288 RCV004010912 RCV005432853

NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu)

SNV
Germline

Chr1:201076966

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078566

rs_762032797

3 SubmittersRCV001915519 RCV002482793 RCV006550652

NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)

SNV
Germline

Chr1:201089451

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA083969

rs_767790285

5 SubmittersRCV002001260 RCV004011066 RCV005535221 RCV005002755

NM_000069.3(CACNA1S):c.5437G>A (p.Ala1813Thr)

SNV
Germline

Chr1:201040016

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083874

rs_777333498

2 SubmittersRCV001884012 RCV006550620

NM_000069.3(CACNA1S):c.3658G>A (p.Gly1220Arg)

SNV
Germline

Chr1:201054513

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA082687

rs_776908038

3 SubmittersRCV001944023 RCV004010935 RCV005006257

NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp)

SNV
Germline

Chr1:201077968

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078360

rs_758354862

4 SubmittersRCV004010967 RCV002484733 RCV004970614 RCV001981525

NM_000069.3(CACNA1S):c.3053+19C>G

SNV
Germline

Chr1:201061925

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA079503

rs_372276351

3 SubmittersRCV001909627 RCV002503570 RCV003446948 RCV003446949 RCV003446950 RCV003446947

NM_000069.3(CACNA1S):c.2482A>G (p.Arg828Gly)

SNV
Germline

Chr1:201069480

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344106484

rs_1174225838

2 SubmittersRCV001866951 RCV004808138

NM_000069.3(CACNA1S):c.5572C>T (p.Leu1858Phe)

SNV
Germline

Chr1:201039881

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA344128262

rs_1356229958

3 SubmittersRCV004808193 RCV002027248 RCV004970806

NM_000069.3(CACNA1S):c.3885G>A (p.Val1295=)

SNV
Germline

Chr1:201052625

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA422719429

rs_1660694623

2 SubmittersRCV002151065 RCV004005481

NM_000069.3(CACNA1S):c.1151-13C>A

SNV
Germline

Chr1:201085044

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA077987

rs_200273802

3 SubmittersRCV002160788 RCV004005486

NM_000069.3(CACNA1S):c.1619+16G>A

SNV
Germline

Chr1:201077863

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078446

rs_148454228

2 SubmittersRCV002073533 RCV005002794

NM_000069.3(CACNA1S):c.564C>T (p.Ser188=)

SNV
Germline

Chr1:201091770

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083910

rs_769008033

2 SubmittersRCV002110022 RCV004005441

NM_000069.3(CACNA1S):c.216G>C (p.Leu72=)

SNV
Germline

Chr1:201110206

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078863

rs_754538534

2 SubmittersRCV002095836 RCV004005361

NM_000069.3(CACNA1S):c.3425A>G (p.Gln1142Arg)

SNV
Germline

Chr1:201059289

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082550

rs_139373152

3 SubmittersRCV002195722 RCV004005516

NM_000069.3(CACNA1S):c.3690C>T (p.Ile1230=)

SNV
Germline

Chr1:201053564

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA422719625

rs_1246570435

2 SubmittersRCV002076003 RCV004005422

NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)

SNV
Germline

Chr1:201043446

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA083621

rs_576536458

6 SubmittersRCV002176965 RCV003149015 RCV004011197 RCV005002793

NM_000069.3(CACNA1S):c.1948+11G>A

SNV
Germline

Chr1:201075484

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA078683

rs_199852936

3 SubmittersRCV002122531 RCV004711821 RCV005008462

NM_000069.3(CACNA1S):c.648G>A (p.Glu216=)

SNV
Germline

Chr1:201091686

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA35996528

rs_200633947

3 SubmittersRCV002122602 RCV004005394

NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)

SNV
Germline

Chr1:201077027

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA078529

rs_773440873

6 SubmittersRCV002288338 RCV003325600 RCV003101662 RCV005008524

NM_000069.3(CACNA1S):c.2293C>T (p.Gln765Ter)

SNV
Germline

Chr1:201070339

Likely pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344109104

rs_2464539498

1 SubmittersRCV002289494

NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser)

SNV
Germline

Chr1:201066274

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344102474

rs_2102582533

2 SubmittersRCV002306242 RCV003102288

NM_000083.3(CLCN1):c.2014C>G (p.Arg672Gly)

SNV
Germline

Chr7:143345604

Pathogenic

Hypokalemic periodic paralysis, type 1

No Assertion Criteria Provided

CA369649885

rs_778587934

1 SubmittersRCV002306245

NM_000069.3(CACNA1S):c.5254G>A (p.Glu1752Lys)

SNV
Germline

Chr1:201040347

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083789

rs_747004063

3 SubmittersRCV003076692 RCV004009327

NM_000069.3(CACNA1S):c.3261A>C (p.Gln1087His)

SNV
Germline

Chr1:201060811

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079627

rs_34515088

3 SubmittersRCV003068704 RCV005010945 RCV004808407

NM_000069.3(CACNA1S):c.3610-12T>G

SNV
Germline

Chr1:201054573

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA36003297

rs_754526467

3 SubmittersRCV003058564 RCV004009320

NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)

SNV
Germline

Chr1:201047218

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083447

rs_763242241

3 SubmittersRCV003069764 RCV004721111 RCV006546316

NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter)

SNV
Germline

Chr1:201040625

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344131688

rs_1451363764

2 SubmittersRCV003078873 RCV004808419

NM_000069.3(CACNA1S):c.2350C>G (p.Pro784Ala)

SNV
Germline

Chr1:201070282

Conflicting classifications of pathogenicity

Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078936

rs_755964792

3 SubmittersRCV003077777 RCV003077778 RCV004009367

NM_000069.3(CACNA1S):c.258+2T>C

SNV
Germline

Chr1:201110162

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA344155586

rs_1663041820

2 SubmittersRCV003092933 RCV005002953

NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)

SNV
Germline

Chr1:201053539

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344154758

rs_28930069

2 SubmittersRCV003080081 RCV004009412

NM_000069.3(CACNA1S):c.4172G>A (p.Trp1391Ter)

SNV
Germline

Chr1:201050458

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344148481

rs_2464443951

1 SubmittersRCV002588291

NM_000069.3(CACNA1S):c.2064-5C>T

SNV
Germline

Chr1:201073647

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA730084171

rs_1233259784

2 SubmittersRCV002637072 RCV006546398

NM_000069.3(CACNA1S):c.4339C>A (p.Arg1447=)

SNV
Germline

Chr1:201048684

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA36000451

rs_758909185

2 SubmittersRCV002654547 RCV006435302

NM_000069.3(CACNA1S):c.5199A>C (p.Arg1733Ser)

SNV
Germline

Chr1:201040649

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344131914

rs_1490186766

2 SubmittersRCV002629601 RCV004009524

NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)

SNV
Germline

Chr1:201066909

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA079149

rs_573597311

4 SubmittersRCV002647291 RCV004009491 RCV005002970

NM_000069.3(CACNA1S):c.2980G>A (p.Asp994Asn)

SNV
Germline

Chr1:201062017

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079469

rs_369941827

4 SubmittersRCV002637771 RCV005011075 RCV005623503 RCV006546410

NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)

SNV
Germline

Chr1:201061410

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1321809

rs_1473668614

6 SubmittersRCV002628591 RCV003491260 RCV004009498 RCV005011071 RCV005323375

NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met)

SNV
Germline

Chr1:201070321

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078924

rs_778705388

3 SubmittersRCV002638202 RCV004009519

NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser)

SNV
Germline

Chr1:201073641

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078791

rs_753313121

4 SubmittersRCV002607759 RCV003491258 RCV004070653 RCV005403291

NM_000069.3(CACNA1S):c.47C>T (p.Pro16Leu)

SNV
Germline

Chr1:201112293

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA083598

rs_768611153

2 SubmittersRCV002624398 RCV005415658

NM_000069.3(CACNA1S):c.5312G>A (p.Ser1771Asn)

SNV
Germline

Chr1:201040289

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083804

rs_761605711

2 SubmittersRCV003117924 RCV004009573

NM_000069.3(CACNA1S):c.181A>G (p.Ile61Val)

SNV
Germline

Chr1:201110241

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078582

rs_147382463

4 SubmittersRCV003104780 RCV004725634 RCV005011206 RCV006546435

NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser)

SNV
Germline

Chr1:201059274

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082558

rs_762768883

3 SubmittersRCV003120083 RCV004009585

NM_000069.3(CACNA1S):c.4504A>G (p.Ser1502Gly)

SNV
Germline

Chr1:201047564

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344143120

rs_1263776472

2 SubmittersRCV002575936 RCV005008611

NM_000069.3(CACNA1S):c.4610T>C (p.Met1537Thr)

SNV
Germline

Chr1:201047173

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083462

rs_771685251

2 SubmittersRCV002579832 RCV004007486

NM_000069.3(CACNA1S):c.2964C>T (p.Arg988=)

SNV
Germline

Chr1:201062033

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079456

rs_778128095

3 SubmittersRCV002572843 RCV005008622 RCV006546021

NM_000069.3(CACNA1S):c.1366C>T (p.Gln456Ter)

SNV
Germline

Chr1:201083189

Pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344125214

rs_1440652791

1 SubmittersRCV002613554

NM_000069.3(CACNA1S):c.1282A>T (p.Ile428Phe)

SNV
Germline

Chr1:201083273

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078111

rs_756504992

2 SubmittersRCV002642837 RCV003340530

NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)

SNV
Germline

Chr1:201089368

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA084002

rs_779029870

5 SubmittersRCV002727016 RCV004007566 RCV005008721 RCV005639432

NM_000069.3(CACNA1S):c.4819C>T (p.Gln1607Ter)

SNV
Germline

Chr1:201043510

Pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344137776

rs_1342285831

1 SubmittersRCV002805994

NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)

SNV
Germline

Chr1:201083290

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078106

rs_768968718

4 SubmittersRCV002780742 RCV003481333 RCV004007600

NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter)

SNV
Germline

Chr1:201089364

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344135898

rs_2464614456

1 SubmittersRCV002806462

NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)

SNV
Germline

Chr1:201043479

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344137438

rs_1313984683

4 SubmittersRCV002886044 RCV004066004 RCV005008781 RCV006546144

NM_000069.3(CACNA1S):c.2317A>G (p.Ile773Val)

SNV
Germline

Chr1:201070315

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078925

rs_566562378

4 SubmittersRCV002895751 RCV005002898 RCV004750783 RCV006546153

NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)

SNV
Germline

Chr1:201075554

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078650

rs_150646872

6 SubmittersRCV002882236 RCV004007657 RCV003409948 RCV005008775 RCV005628958

NM_000069.3(CACNA1S):c.1090C>T (p.Arg364Trp)

SNV
Germline

Chr1:201085496

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA077941

rs_529038948

2 SubmittersRCV002882128 RCV006546139

NM_000069.3(CACNA1S):c.1022G>A (p.Arg341Gln)

SNV
Germline

Chr1:201085564

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA077917

rs_369136264

2 SubmittersRCV002886517 RCV004066027

NM_000069.3(CACNA1S):c.3760C>T (p.Arg1254Ter)

SNV
Germline

Chr1:201053494

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Multiple Submitters
No Conflicts

CA344154388

rs_200034567

2 SubmittersRCV002894973 RCV005622192

NM_000069.3(CACNA1S):c.2258C>T (p.Pro753Leu)

SNV
Germline

Chr1:201070374

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078902

rs_190705834

3 SubmittersRCV002919024 RCV005869945 RCV006546167

NM_000069.3(CACNA1S):c.3043G>A (p.Gly1015Arg)

SNV
Germline

Chr1:201061954

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079494

rs_202242262

2 SubmittersRCV002957605 RCV005403254

NM_000069.3(CACNA1S):c.754C>T (p.Arg252Cys)

SNV
Germline

Chr1:201089404

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083987

rs_151005797

2 SubmittersRCV002952962 RCV004007712

NM_000069.3(CACNA1S):c.1294A>G (p.Lys432Glu)

SNV
Germline

Chr1:201083261

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078119

rs_757788424

3 SubmittersRCV005627464 RCV006546181 RCV002948311

NM_000069.3(CACNA1S):c.5531G>C (p.Ser1844Thr)

SNV
Germline

Chr1:201039922

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083894

rs_145195149

3 SubmittersRCV002982420 RCV005794436 RCV006546206

NM_000069.3(CACNA1S):c.1749G>A (p.Gly583=)

SNV
Germline

Chr1:201076998

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA422689410

rs_2102142398

2 SubmittersRCV003057834 RCV004009288

NM_000069.3(CACNA1S):c.2853+1G>T

SNV
Germline

Chr1:201065837

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344101158

rs_2464518149

1 SubmittersRCV003057506

NM_000069.3(CACNA1S):c.724C>T (p.Pro242Ser)

SNV
Germline

Chr1:201089434

Conflicting classifications of pathogenicity

Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA083975

rs_376595247

3 SubmittersRCV002763370 RCV005011127 RCV006560872

NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)

SNV
Germline

Chr1:201112308

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344158674

rs_1420388292

4 SubmittersRCV003217186 RCV003779707 RCV004009670 RCV005003037

NM_000069.3(CACNA1S):c.5119C>G (p.Pro1707Ala)

SNV
Germline

Chr1:201041519

Conflicting classifications of pathogenicity

Inborn genetic diseases
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA344132867

rs_1426011893

3 SubmittersRCV003262587 RCV006548503 RCV006561318

NM_000069.3(CACNA1S):c.1707C>G (p.Phe569Leu)

SNV
Germline

Chr1:201077040

Likely pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344120095

rs_2464567071

1 SubmittersRCV003314509

NM_000069.3(CACNA1S):c.2699G>T (p.Arg900Met)

SNV
Germline

Chr1:201066275

Pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344102480

rs_2464520880

1 SubmittersRCV003320006

NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)

SNV
Germline

Chr1:201040641

Conflicting classifications of pathogenicity

CACNA1S-related disorder
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083758

rs_765797870

3 SubmittersRCV003399971 RCV003778212 RCV004808485

NM_000069.3(CACNA1S):c.293C>T (p.Ser98Leu)

SNV
Germline

Chr1:201093987

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344145692

rs_1310029541

2 SubmittersRCV003517867 RCV006562602

NM_000069.3(CACNA1S):c.5226+1G>A

SNV
Germline

Chr1:201040621

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344131660

rs_2464393390

1 SubmittersRCV003782120

NM_000069.3(CACNA1S):c.2276G>A (p.Arg759His)

SNV
Germline

Chr1:201070356

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078917

rs_771314646

3 SubmittersRCV003782393 RCV006548868 RCV005631241

NM_000069.3(CACNA1S):c.4955G>A (p.Arg1652His)

SNV
Germline

Chr1:201043374

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA083629

rs_567364021

4 SubmittersRCV003782472 RCV004805605 RCV005537683

NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)

SNV
Germline

Chr1:201072815

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
not specified
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078861

rs_756920981

5 SubmittersRCV003796043 RCV003988149 RCV004006019 RCV006251282

NM_000069.3(CACNA1S):c.1983G>A (p.Val661=)

SNV
Germline

Chr1:201074586

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078736

rs_763510435

2 SubmittersRCV003780982 RCV006548841

NM_000069.3(CACNA1S):c.4798-5C>G

SNV
Germline

Chr1:201043536

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA730082558

rs_375500585

3 SubmittersRCV003781475 RCV004805601

NM_000069.3(CACNA1S):c.2385C>A (p.Ile795=)

SNV
Germline

Chr1:201069577

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078974

rs_200730765

2 SubmittersRCV003789562 RCV005003712

NM_000069.3(CACNA1S):c.4924G>A (p.Val1642Ile)

SNV
Germline

Chr1:201043405

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA35992730

rs_148724065

4 SubmittersRCV003789322 RCV004005977 RCV005003711

NM_000069.3(CACNA1S):c.4416C>T (p.Arg1472=)

SNV
Germline

Chr1:201048607

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA422718780

rs_1162767709

2 SubmittersRCV003789385 RCV004005980

NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter)

SNV
Germline

Chr1:201112216

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Multiple Submitters
No Conflicts

CA344157756

rs_1553254275

2 SubmittersRCV003787594 RCV006264146

NM_000069.3(CACNA1S):c.2491-2A>G

SNV
Germline

Chr1:201069198

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344106214

rs_2464534175

1 SubmittersRCV003787650

NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn)

SNV
Germline

Chr1:201053574

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082748

rs_745672876

3 SubmittersRCV003786130 RCV004005947

NM_000069.3(CACNA1S):c.5215G>A (p.Ala1739Thr)

SNV
Germline

Chr1:201040633

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA083760

rs_542268566

3 SubmittersRCV003788326 RCV004605033 RCV006455761

NM_000069.3(CACNA1S):c.1944C>T (p.Gly648=)

SNV
Germline

Chr1:201075499

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA078675

rs_145733062

3 SubmittersRCV003786440 RCV006548845 RCV006548846

NM_000069.3(CACNA1S):c.5049-12C>G

SNV
Germline

Chr1:201041601

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA1219569652

rs_1660213551

3 SubmittersRCV003792706 RCV004006007 RCV005003713

NM_000069.3(CACNA1S):c.2812C>T (p.Leu938=)

SNV
Germline

Chr1:201065879

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079303

rs_751604761

2 SubmittersRCV003794080 RCV005433467

NM_000069.3(CACNA1S):c.2762T>C (p.Met921Thr)

SNV
Germline

Chr1:201065929

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079277

rs_765793568

2 SubmittersRCV003806908 RCV004805611

NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter)

SNV
Germline

Chr1:201061950

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344163154

rs_2464500667

1 SubmittersRCV003805655

NM_000069.3(CACNA1S):c.1948+2T>C

SNV
Germline

Chr1:201075493

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

CA344116443

rs_1185268927

1 SubmittersRCV003802641

NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)

SNV
Germline

Chr1:201047165

Pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Multiple Submitters
No Conflicts

CA344141866

rs_1351956022

2 SubmittersRCV003817944 RCV006264156

NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)

SNV
Germline

Chr1:201051096

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083031

rs_146158332

5 SubmittersRCV003818041 RCV005537694 RCV004721229 RCV005013201 RCV006548909

NM_000069.3(CACNA1S):c.3667-7C>G

SNV
Germline

Chr1:201053594

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA36002794

rs_774905373

2 SubmittersRCV004006081 RCV003813218

NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)

SNV
Germline

Chr1:201051122

Pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344150900

rs_2464447576

1 SubmittersRCV003810249

NM_000069.3(CACNA1S):c.2228-1G>A

SNV
Germline

Chr1:201070405

Likely pathogenic

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

CA344109743

rs_2464539907

1 SubmittersRCV003810338

NM_000069.3(CACNA1S):c.2511C>G (p.Ile837Met)

SNV
Germline

Chr1:201069176

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344105968

rs_764647345

2 SubmittersRCV004007868 RCV005220818

NM_000069.3(CACNA1S):c.695-14C>G

SNV
Germline

Chr1:201089477

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA528536755

rs_1262968798

2 SubmittersRCV004007936 RCV006564572

NM_000069.3(CACNA1S):c.136A>G (p.Ser46Gly)

SNV
Germline

Chr1:201112204

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344157633

rs_773923999

2 SubmittersRCV004013089 RCV005220831

NM_000069.3(CACNA1S):c.4404T>A (p.Phe1468Leu)

SNV
Germline

Chr1:201048619

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083326

rs_373506089

3 SubmittersRCV004014393 RCV006564598

NM_000069.3(CACNA1S):c.3542C>G (p.Pro1181Arg)

SNV
Germline

Chr1:201058475

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA082619

rs_144935943

2 SubmittersRCV004012440 RCV006564652

NM_000069.3(CACNA1S):c.430G>A (p.Val144Ile)

SNV
Germline

Chr1:201092083

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA344142503

rs_1295305811

3 SubmittersRCV004016223 RCV005220845

NM_000069.3(CACNA1S):c.5065G>A (p.Glu1689Lys)

SNV
Germline

Chr1:201041573

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA083713

rs_769271960

2 SubmittersRCV004015237 RCV005220855

NM_000069.3(CACNA1S):c.1393+1G>T

SNV
Germline

Chr1:201083161

Likely pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004795450

NM_000069.3(CACNA1S):c.4107C>T (p.Ala1369=)

SNV
Germline

Chr1:201050990

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004805727 RCV005006570

NM_000069.3(CACNA1S):c.3667-3C>T

SNV
Germline

Chr1:201053590

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004805738 RCV005003812

NM_000069.3(CACNA1S):c.1731C>T (p.Gly577=)

SNV
Germline

Chr1:201077016

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004805791 RCV006565386

NM_000069.3(CACNA1S):c.1785C>T (p.Ser595=)

SNV
Germline

Chr1:201076962

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005003111 RCV006551342

NM_000069.3(CACNA1S):c.4113+2T>C

SNV
Germline

Chr1:201050982

Likely pathogenic

Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Single Submitter

1 SubmittersRCV005009365

NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)

SNV
Germline

Chr1:201051123

Likely pathogenic

Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Single Submitter

1 SubmittersRCV005009403

NM_000069.3(CACNA1S):c.2658-2A>C

SNV
Germline

Chr1:201066318

Likely pathogenic

Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Single Submitter

1 SubmittersRCV005005755

NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)

SNV
Germline

Chr1:201040666

Likely pathogenic

Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Single Submitter

1 SubmittersRCV005005655

NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)

SNV
Germline

Chr1:201091983

Likely pathogenic

Thyrotoxic periodic paralysis, susceptibility to, 1
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Congenital myopathy 18

Criteria Provided
Single Submitter

1 SubmittersRCV005012000

NM_000069.3(CACNA1S):c.646G>A (p.Glu216Lys)

SNV
Germline

Chr1:201091688

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005221755 RCV006567128

NM_000069.3(CACNA1S):c.3275C>T (p.Ala1092Val)

SNV
Germline

Chr1:201060797

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

1 SubmittersRCV005216620

NM_000069.3(CACNA1S):c.3339C>A (p.Tyr1113Ter)

SNV
Germline

Chr1:201060733

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

1 SubmittersRCV005212438

NM_000069.3(CACNA1S):c.1005-1G>A

SNV
Germline

Chr1:201085582

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

1 SubmittersRCV005218115

NM_000069.3(CACNA1S):c.389T>A (p.Val130Asp)

SNV
Germline

Chr1:201093891

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

1 SubmittersRCV005224610

NM_000069.3(CACNA1S):c.4524G>C (p.Gln1508His)

SNV
Germline

Chr1:201047544

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005226717 RCV006553466

NM_000069.3(CACNA1S):c.4338+1G>A

SNV
Germline

Chr1:201049002

Likely pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

1 SubmittersRCV005226930

NM_000069.3(CACNA1S):c.1377G>A (p.Trp459Ter)

SNV
Germline

Chr1:201083178

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

1 SubmittersRCV005224918

NM_000069.3(CACNA1S):c.2170G>A (p.Glu724Lys)

SNV
Germline

Chr1:201072812

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005225028 RCV005311231

NM_000069.3(CACNA1S):c.2054A>G (p.Lys685Arg)

SNV
Germline

Chr1:201074515

Conflicting classifications of pathogenicity

Inborn genetic diseases
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005316132 RCV006567320

NM_000069.3(CACNA1S):c.2386G>A (p.Val796Ile)

SNV
Germline

Chr1:201069576

Conflicting classifications of pathogenicity

Malignant hyperthermia, susceptibility to, 5
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006554909 RCV006570051

NM_000069.3(CACNA1S):c.2400G>A (p.Trp800Ter)

SNV
Germline

Chr1:201069562

Pathogenic

Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Single Submitter

1 SubmittersRCV006595074