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 Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA117835	rs_121908544	9 SubmittersRCV000006258 RCV000255921 RCV000206951 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	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA004054	rs_28930068	14 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003450645 RCV003992159
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	SNV Germline	Chr1:201053539	Pathogenic	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA004048	rs_28930069	6 SubmittersRCV000518061 RCV000693727 RCV003450646 RCV000019191
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	SNV Germline	Chr1:201077915	Pathogenic	Hypokalemic periodic paralysis, type 1 Condition: not provided 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	Criteria Provided Multiple Submitters No Conflicts	CA004021	rs_80338777	13 SubmittersRCV000019192 RCV000414449 RCV000627794 RCV002504808
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)	SNV Germline	Chr1:201066283	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	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	4 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	Criteria Provided Multiple Submitters No Conflicts	CA345720	rs_527236150	7 SubmittersRCV000132737 RCV000254971 RCV000797599 RCV002305449
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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder	Criteria Provided Conflicting Classifications	CA004058	rs_145910245	10 SubmittersRCV000148444 RCV000181043 RCV000586717 RCV001081599 RCV002225085 RCV003917462
NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)	SNV Germline	Chr1:201043324	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		rs_199989324	4 SubmittersRCV002918364 RCV003418637 RCV003517439
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	Criteria Provided Conflicting Classifications	CA004075	rs_141204958	9 SubmittersRCV000210886 RCV000455562 RCV000651228 RCV000755673 RCV000996101 RCV003318365
NM_000069.3(CACNA1S):c.3526-2A>G	SNV Germline	Chr1:201058493	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 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	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 not specified Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA078249	rs_528563981	5 SubmittersRCV000372195 RCV000863576 RCV000246687 RCV002500845 RCV003332158
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	Criteria Provided Conflicting Classifications	CA082871	rs_139491817	6 SubmittersRCV000242506 RCV000367694 RCV000711144 RCV001082151 RCV003165683
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	8 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 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	CA083665	rs_146696748	4 SubmittersRCV000362920 RCV000815102 RCV003454873 RCV003454872 RCV003458395
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)	SNV Germline	Chr1:201043447	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis Malignant hyperthermia of anesthesia Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083619	rs_200848930	4 SubmittersRCV000287248 RCV000379008 RCV000711148 RCV000692277
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	Criteria Provided Conflicting Classifications	CA083441	rs_764330337	4 SubmittersRCV000380331 RCV000810862 RCV001356451
NM_000069.3(CACNA1S):c.2877C>T (p.Asp959=)	SNV Germline	Chr1:201062491	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	CA079358	rs_138328785	3 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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10608735	rs_150708636	3 SubmittersRCV000338620 RCV000651248 RCV003884450
NM_000069.3(CACNA1S):c.1948+13G>C	SNV Germline	Chr1:201075482	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Hypokalemic periodic paralysis not specified Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078686	rs_538625530	3 SubmittersRCV000311304 RCV000355929 RCV000418638 RCV002059419
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=)	SNV Germline	Chr1:201085443	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 not specified Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA077973	rs_144883479	6 SubmittersRCV000324715 RCV000866071 RCV001288112 RCV002292504 RCV002504041
NM_000069.3(CACNA1S):c.152+14C>T	SNV Germline	Chr1:201112174	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Hypokalemic periodic paralysis Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078288	rs_201285556	2 SubmittersRCV000397320 RCV000370884 RCV002059420
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	Criteria Provided Conflicting Classifications	CA082677	rs_148870919	4 SubmittersRCV000372331 RCV000651218 RCV001092293
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	Criteria Provided Conflicting Classifications	CA078658	rs_201784750	3 SubmittersRCV000376805 RCV000552279 RCV001705442
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	4 SubmittersRCV000381485 RCV001850519 RCV003417940 RCV003995801
NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)	SNV Germline	Chr1:201083203	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA078157	rs_35521793	5 SubmittersRCV000484498 RCV000263862 RCV000697995 RCV003517182 RCV003165797
NM_000069.3(CACNA1S):c.909T>C (p.Asp303=)	SNV Germline	Chr1:201087921	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA084059	rs_760398733	2 SubmittersRCV000325894 RCV001421972
NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)	SNV Germline	Chr1:201039943	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided CACNA1S-related disorder	Criteria Provided Conflicting Classifications	CA083885	rs_200765341	5 SubmittersRCV000398256 RCV000551485 RCV001571219 RCV003957538
NM_000069.3(CACNA1S):c.4776G>A (p.Ala1592=)	SNV Germline	Chr1:201044349	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	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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083377	rs_533353353	3 SubmittersRCV000376799 RCV000554452 RCV001463001
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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083347	rs_200538716	3 SubmittersRCV000352167 RCV000994224 RCV001447393
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	Criteria Provided Conflicting Classifications	CA082928	rs_780390034	3 SubmittersRCV000337244 RCV001364039 RCV002508209
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	Criteria Provided Conflicting Classifications	CA078677	rs_760246258	5 SubmittersRCV000267151 RCV000651225 RCV000994231 RCV003298356
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	Criteria Provided Conflicting Classifications	CA078649	rs_147888089	2 SubmittersRCV000265931 RCV001295829
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala)	SNV Germline	Chr1:201077002	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA078549	rs_377459546	3 SubmittersRCV000299085 RCV000689050 RCV001753751
NM_000069.3(CACNA1S):c.1368G>A (p.Gln456=)	SNV Germline	Chr1:201083187	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA078162	rs_767568799	2 SubmittersRCV000397226 RCV001466152
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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083604	rs_146619460	3 SubmittersRCV000281287 RCV001850517 RCV002504037
NM_000069.3(CACNA1S):c.889G>A (p.Val297Ile)	SNV Germline	Chr1:201089269	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	CA084030	rs_138205421	4 SubmittersRCV000296457 RCV000811152 RCV003454913 RCV003458419 RCV003454912
NM_000069.3(CACNA1S):c.398+3G>A	SNV Germline	Chr1:201093879	Conflicting classifications of pathogenicity	Malignant hyperthermia of anesthesia Hypokalemic periodic paralysis Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083015	rs_764710968	6 SubmittersRCV000307110 RCV000397402 RCV000651213 RCV000835462 RCV003517183
NM_000069.3(CACNA1S):c.4752G>A (p.Leu1584=)	SNV Germline	Chr1:201044373	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083563	rs_763069723	2 SubmittersRCV000351633 RCV000555819
NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)	SNV Germline	Chr1:201061970	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	CA079486	rs_371818752	4 SubmittersRCV000259670 RCV001053276 RCV003454886 RCV003458404 RCV003454885
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	Criteria Provided Conflicting Classifications	CA079447	rs_140453525	5 SubmittersRCV000345175 RCV001241998 RCV001705441 RCV003401281 RCV003910073
NM_000069.3(CACNA1S):c.2594G>A (p.Arg865His)	SNV Germline	Chr1:201066950	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA079124	rs_545411173	3 SubmittersRCV000329590 RCV000867936 RCV003221891
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)	SNV Germline	Chr1:201069522	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 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	9 SubmittersRCV000524917 RCV000397662 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	4 SubmittersRCV000317251 RCV000651242 RCV003910074 RCV003995799
NM_000069.3(CACNA1S):c.1628C>T (p.Thr543Met)	SNV Germline	Chr1:201077119	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis Malignant hyperthermia of anesthesia 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 SubmittersRCV000350182 RCV000375261 RCV001850520 RCV002494914 RCV003995802
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)	SNV Germline	Chr1:201089415	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA083982	rs_200665694	6 SubmittersRCV000357931 RCV000553064 RCV000996099
NM_000069.3(CACNA1S):c.598G>A (p.Ala200Thr)	SNV Germline	Chr1:201091736	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis Malignant hyperthermia of anesthesia Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA083920	rs_527702358	6 SubmittersRCV000275090 RCV000383532 RCV000704043 RCV002522094 RCV001775757
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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA078019	rs_148770452	3 SubmittersRCV000414075 RCV000699469 RCV000996097 RCV002502444
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	Criteria Provided Conflicting Classifications	CA16603474	rs_892742196	4 SubmittersRCV000529294 RCV002264936 RCV003897864 RCV003996060
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	4 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 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA083451	rs_765581827	4 SubmittersRCV000422829 RCV001397065 RCV003456073 RCV003458436 RCV003456074 RCV003456072
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	Criteria Provided Conflicting Classifications	CA082876	rs_774300377	3 SubmittersRCV000420857 RCV001063783 RCV004000504
NM_000069.3(CACNA1S):c.2920G>A (p.Val974Met)	SNV Germline	Chr1:201062077	Conflicting classifications of pathogenicity	Condition: not provided 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	CA079417	rs_757840865	3 SubmittersRCV000437112 RCV000534363 RCV002480310
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	Criteria Provided Conflicting Classifications	CA079088	rs_369192794	3 SubmittersRCV000425186 RCV001861555 RCV004000425
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	Criteria Provided Conflicting Classifications	CA083605	rs_138265497	3 SubmittersRCV000419892 RCV001243309
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 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	CA078171	rs_143202536	4 SubmittersRCV000442859 RCV000706844 RCV002488987 RCV004000598
NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)	SNV Germline	Chr1:201041533	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083723	rs_201310235	3 SubmittersRCV000440915 RCV001230161 RCV002522473
NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)	SNV Germline	Chr1:201089450	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA083971	rs_754213830	4 SubmittersRCV000435466 RCV000651270 RCV003487270 RCV002502524
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	Criteria Provided Conflicting Classifications	CA078801	rs_771706267	2 SubmittersRCV000436745 RCV001088952
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	Criteria Provided Conflicting Classifications	CA083722	rs_550371466	6 SubmittersRCV000454946 RCV000782224 RCV000814679 RCV001096066
NM_000069.3(CACNA1S):c.1948+1G>A	SNV Germline	Chr1:201075494	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA078688	rs_745712829	4 SubmittersRCV004000600 RCV001218682 RCV000455181 RCV000782247
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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16617039	rs_367983954	3 SubmittersRCV000485404 RCV001851237 RCV003449237 RCV003449236
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	Criteria Provided Conflicting Classifications	CA078805	rs_147112322	4 SubmittersRCV000485685 RCV000697159 RCV001288113 RCV001724025
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser)	SNV Germline	Chr1:201083186	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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078164	rs_372374492	5 SubmittersRCV000482187 RCV001212349 RCV002526955 RCV002475950 RCV004003404
NM_000069.3(CACNA1S):c.619G>A (p.Val207Ile)	SNV Germline	Chr1:201091715	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083926	rs_767571919	3 SubmittersRCV000483307 RCV000528426 RCV002526575
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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA079143	rs_140330831	9 SubmittersRCV000651220 RCV000729718 RCV001356834 RCV001356678 RCV001356134 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	Criteria Provided Conflicting Classifications	CA078266	rs_150590855	6 SubmittersRCV000487733 RCV000697677 RCV001096477 RCV003168987
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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083624	rs_146885451	4 SubmittersRCV000489613 RCV000703733 RCV002506187 RCV002527025
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)	SNV Germline	Chr1:201074521	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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA078757	rs_141031133	5 SubmittersRCV000494517 RCV000688405 RCV001262359 RCV002481562 RCV004003478
NM_000069.3(CACNA1S):c.1904T>A (p.Met635Lys)	SNV Germline	Chr1:201075539	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	CA078659	rs_144590408	3 SubmittersRCV000494538 RCV001856961 RCV004003477
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)	SNV Germline	Chr1:201089385	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083997	rs_35534614	5 SubmittersRCV000514356 RCV001081811 RCV003935341 RCV003517213
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 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications	CA079631	rs_142102094	4 SubmittersRCV000517687 RCV000651222 RCV004003589 RCV001755763
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	Criteria Provided Conflicting Classifications	CA078265	rs_532351874	4 SubmittersRCV000518320 RCV001241845 RCV003487271 RCV004023496
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	Criteria Provided Conflicting Classifications	CA083622	rs_747238231	5 SubmittersRCV000517318 RCV001098317 RCV001321210 RCV003517214
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)	SNV Germline	Chr17:63941930	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 1 SCN4A-related non-dystrophic myotonia Condition: not provided	Criteria Provided Conflicting Classifications	CA292957365	rs_748517635	4 SubmittersRCV000532008 RCV002305499 RCV002267617 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	Criteria Provided Conflicting Classifications	CA078972	rs_760674518	3 SubmittersRCV000519296 RCV001225189
NM_000069.3(CACNA1S):c.482T>C (p.Val161Ala)	SNV Germline	Chr1:201092031	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA083608	rs_141521945	3 SubmittersRCV000522368 RCV000801970 RCV003159691
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 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder	Criteria Provided Conflicting Classifications	CA35978916	rs_80338777	5 SubmittersRCV000549801 RCV002293456 RCV002491092 RCV003517221 RCV003419987
NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter)	SNV Germline	Chr1:201077995	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter	CA344121959	rs_762294904	1 SubmittersRCV000536378
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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA083800	rs_200434921	5 SubmittersRCV000544824 RCV001096065 RCV001257060 RCV003517223
NM_000069.3(CACNA1S):c.3664G>A (p.Val1222Ile)	SNV Germline	Chr1:201054507	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	CA082696	rs_202240111	4 SubmittersRCV000559232 RCV003419988 RCV002530229 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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA079004	rs_199758244	3 SubmittersRCV000554629 RCV002483487 RCV003999450
NM_000069.3(CACNA1S):c.1091G>A (p.Arg364Gln)	SNV Germline	Chr1:201085495	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	Criteria Provided Conflicting Classifications	CA077944	rs_763360081	3 SubmittersRCV000529687 RCV001584331 RCV002483486
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	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	Criteria Provided Conflicting Classifications	CA082926	rs_749856222	3 SubmittersRCV000549714 RCV002476193 RCV003223654
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	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	Criteria Provided Conflicting Classifications	CA082633	rs_200366112	3 SubmittersRCV000546815 RCV002506366 RCV003487272
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	Criteria Provided Conflicting Classifications	CA083461	rs_761768992	2 SubmittersRCV000526070 RCV004024262
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	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA084070	rs_556751671	4 SubmittersRCV000555155 RCV000765034 RCV002060354 RCV003338664
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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications	CA35996896	rs_201998231	5 SubmittersRCV000599312 RCV000699379 RCV002498880 RCV003451352 RCV003456099
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)	SNV Germline	Chr1:201091973	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 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.4377C>T (p.Gly1459=)	SNV Germline	Chr1:201048646	Conflicting classifications of pathogenicity	not specified 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	Criteria Provided Conflicting Classifications	CA083316	rs_138189035	4 SubmittersRCV000605825 RCV000983807 RCV003451442 RCV003456108 RCV003456107 RCV003458478
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	Criteria Provided Conflicting Classifications	CA083110	rs_182873269	2 SubmittersRCV001044201 RCV001707818
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	Criteria Provided Conflicting Classifications	CA079205	rs_140924492	3 SubmittersRCV001242982 RCV001718903
NM_000069.3(CACNA1S):c.900+9G>A	SNV Germline	Chr1:201089249	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA658795584	rs_1454687459	2 SubmittersRCV000613168 RCV001860279
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	Criteria Provided Conflicting Classifications	CA082807	rs_530655602	3 SubmittersRCV000651253 RCV001084742 RCV003953182
NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)	SNV Germline	Chr1:201043468	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA1321791	rs_756066219	3 SubmittersRCV000651212 RCV002485470 RCV002530539
NM_000069.3(CACNA1S):c.5049-2A>G	SNV Germline	Chr1:201041591	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA083706	rs_148989517	4 SubmittersRCV000651268 RCV002248848 RCV002260656 RCV002469236
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 CACNA1S-related disorder Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications	CA083555	rs_183195890	5 SubmittersRCV000651269 RCV003451581 RCV003451582 RCV002493045 RCV003953183 RCV004025825 RCV003451580 RCV003458497
NM_000069.3(CACNA1S):c.5238G>A (p.Val1746=)	SNV Germline	Chr1:201040363	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications	CA35989714	rs_374660431	2 SubmittersRCV000651262 RCV004004095
NM_000069.3(CACNA1S):c.1557G>A (p.Met519Ile)	SNV Germline	Chr1:201077941	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	Criteria Provided Conflicting Classifications	CA078399	rs_200066766	3 SubmittersRCV000651227 RCV002477450 RCV004004092
NM_000069.3(CACNA1S):c.1348G>A (p.Ala450Thr)	SNV Germline	Chr1:201083207	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	Criteria Provided Conflicting Classifications	CA078156	rs_150218077	2 SubmittersRCV000651229 RCV002477451
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 Inborn genetic diseases CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_138364213	6 SubmittersRCV000658423 RCV001096478 RCV001855376 RCV002536327 RCV003392506 RCV004004191
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	Criteria Provided Conflicting Classifications		rs_138837077	3 SubmittersRCV000700646 RCV001310554
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 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_138541733	3 SubmittersRCV000699806 RCV001262360 RCV002485714
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 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369931782	3 SubmittersRCV000687088 RCV000765033 RCV004026255
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	Criteria Provided Conflicting Classifications		rs_368421264	2 SubmittersRCV000707372 RCV001555937
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 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_145039828	4 SubmittersRCV000686554 RCV002477528 RCV002547103 RCV004004250
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	Criteria Provided Conflicting Classifications		rs_777328046	2 SubmittersRCV000707737 RCV002477637
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 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		rs_375318710	3 SubmittersRCV000688155 RCV002477536 RCV004004277
NM_000069.3(CACNA1S):c.1827+6C>T	SNV Germline	Chr1:201076914	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 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder	Criteria Provided Conflicting Classifications		rs_202244301	5 SubmittersRCV000689838 RCV002485628 RCV003446350 RCV003446351 RCV003446349 RCV003446348 RCV003907948
NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)	SNV Germline	Chr1:201058487	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_774511818	2 SubmittersRCV000695256 RCV003517258
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 Condition: not provided Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_369332959	3 SubmittersRCV000694312 RCV003389726 RCV003999613
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		rs_1558056376	3 SubmittersRCV000687375 RCV001784310 RCV003446347 RCV003486917
NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)	SNV Germline	Chr1:201061984	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 CACNA1S-related disorder	Criteria Provided Conflicting Classifications		rs_149658326	3 SubmittersRCV000693824 RCV002477571 RCV003892548
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	Criteria Provided Conflicting Classifications		rs_751247956	2 SubmittersRCV000690461 RCV003999545
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)	SNV Germline	Chr1:201083170	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 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_146696298	5 SubmittersRCV000711137 RCV000765032 RCV001078851 RCV001098228 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	Criteria Provided Conflicting Classifications		rs_750807406	3 SubmittersRCV000714537 RCV001868336 RCV003999799
NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)	SNV Germline	Chr1:201089258	Pathogenic/Likely pathogenic	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 Multiple Submitters No Conflicts		rs_148317787	3 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		rs_202131129	4 SubmittersRCV000780079 RCV001766618 RCV001856184 RCV004001512
NM_000069.3(CACNA1S):c.4113+1G>A	SNV Germline	Chr1:201050983	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		rs_1558056376	4 SubmittersRCV000782244 RCV001378977 RCV003141766 RCV003446433
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	SNV Germline	Chr1:201053459	Conflicting classifications of pathogenicity	Condition: not provided 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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_201627041	6 SubmittersRCV000782249 RCV002493431 RCV001377927 RCV003453617 RCV003453618
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)	SNV Germline	Chr1:201070363	Pathogenic/Likely pathogenic	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 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_770073633	4 SubmittersRCV000782246 RCV001869163 RCV003458516 RCV003456143 RCV003456144 RCV002493430 RCV003453616
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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		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 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		rs_201310235	5 SubmittersRCV000801799 RCV002282371 RCV002495076 RCV004001641 RCV004028075
NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)	SNV Germline	Chr1:201043357	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Inborn genetic diseases CACNA1S-related disorder	Criteria Provided Conflicting Classifications		rs_147392278	4 SubmittersRCV000791823 RCV001805856 RCV002535852 RCV003975321
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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_751048080	3 SubmittersRCV000807837 RCV003353041 RCV002487735
NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)	SNV Germline	Chr1:201044394	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_202120583	2 SubmittersRCV000797715 RCV003517268
NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)	SNV Germline	Chr1:201047144	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_757433005	2 SubmittersRCV000794541 RCV000994222
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	Criteria Provided Conflicting Classifications		rs_371849585	4 SubmittersRCV000810717 RCV002281136 RCV002537341
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	Criteria Provided Conflicting Classifications		rs_756438139	4 SubmittersRCV000822773 RCV001508030 RCV003517272
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		rs_563795648	1 SubmittersRCV000794912
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)	SNV Germline	Chr1:201053568	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	Criteria Provided Conflicting Classifications		rs_774416016	3 SubmittersRCV000813312 RCV001776027 RCV002495139
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	Criteria Provided Conflicting Classifications		rs_774884290	3 SubmittersRCV000810949 RCV002487763 RCV003225128
NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)	SNV Germline	Chr1:201062027	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_747618077	4 SubmittersRCV000796459 RCV001336099 RCV002507377 RCV003166141
NM_000069.3(CACNA1S):c.2726A>G (p.Asn909Ser)	SNV Germline	Chr1:201066248	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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_139935847	4 SubmittersRCV000820172 RCV001571550 RCV002495170 RCV004002821
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)	SNV Germline	Chr1:201066951	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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_201205904	4 SubmittersRCV000800242 RCV002495065 RCV003517269 RCV003489884
NM_000069.3(CACNA1S):c.2380C>T (p.Arg794Cys)	SNV Germline	Chr1:201069582	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		rs_373328930	4 SubmittersRCV000820892 RCV004002826 RCV004029052 RCV002495172
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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Multiple Submitters No Conflicts		rs_1572048220	3 SubmittersRCV003453734 RCV003456151 RCV000824015 RCV002501148
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	Criteria Provided Conflicting Classifications		rs_748711395	3 SubmittersRCV000797737 RCV001101908 RCV004546563
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)	SNV Germline	Chr1:201085002	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		rs_112236248	3 SubmittersRCV000807536 RCV002507400 RCV003517271
NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)	SNV Germline	Chr1:201089261	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_1572059904	1 SubmittersRCV000804884
NM_000069.3(CACNA1S):c.86G>A (p.Arg29Gln)	SNV Germline	Chr1:201112254	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_758594181	2 SubmittersRCV000813617 RCV004001752
NM_000069.3(CACNA1S):c.4798-2A>G	SNV Germline	Chr1:201043533	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_1428157373	5 SubmittersRCV000792372 RCV002473138 RCV001784407 RCV003446434
NM_000069.3(CACNA1S):c.3525+1G>A	SNV Germline	Chr1:201059188	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_1572033599	1 SubmittersRCV000809616
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		rs_1572036396	1 SubmittersRCV000809846
NM_000069.3(CACNA1S):c.2490+5C>T	SNV Germline	Chr1:201069467	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder	Criteria Provided Conflicting Classifications		rs_369813191	3 SubmittersRCV000842082 RCV000800505 RCV003965593
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		rs_1287079817	4 SubmittersRCV000853588 RCV001310556 RCV001869308 RCV003453774
NM_000069.3(CACNA1S):c.1325T>C (p.Val442Ala)	SNV Germline	Chr1:201083230	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_202217590	2 SubmittersRCV000870095 RCV001258166
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		rs_756008578	3 SubmittersRCV000867937 RCV001096583 RCV004003010
NM_000069.3(CACNA1S):c.681C>T (p.Tyr227=)	SNV Germline	Chr1:201091653	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_371991382	2 SubmittersRCV000868105 RCV004003013
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		rs_548832647	2 SubmittersRCV000868745 RCV004003024
NM_000069.3(CACNA1S):c.2838C>T (p.Gly946=)	SNV Germline	Chr1:201065853	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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_759934490	5 SubmittersRCV000887743 RCV002501438 RCV003454930 RCV003454931 RCV003413713 RCV003454932 RCV003458569
NM_000069.3(CACNA1S):c.1314G>A (p.Val438=)	SNV Germline	Chr1:201083241	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_146400205	2 SubmittersRCV000926262 RCV004003214
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		rs_373609219	4 SubmittersRCV000932322 RCV001101989 RCV001172224 RCV004003246
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	Criteria Provided Conflicting Classifications		rs_978624647	3 SubmittersRCV000986500 RCV001869336 RCV004004416
NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile)	SNV Unknown	Chr1:201077013	Likely pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_1572049461	1 SubmittersRCV000986501
NM_000069.3(CACNA1S):c.5507G>A (p.Arg1836Gln)	SNV Germline	Chr1:201039946	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		rs_368214163	3 SubmittersRCV001242712 RCV003883484 RCV004004423
NM_000069.3(CACNA1S):c.4543+2T>C	SNV Germline	Chr1:201047523	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	Criteria Provided Multiple Submitters No Conflicts		rs_1572023336	3 SubmittersRCV000994223 RCV001376758 RCV003446575 RCV003446576
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly)	SNV Germline	Chr1:201066285	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_1572039465	2 SubmittersRCV000994229 RCV002549855
NM_000069.3(CACNA1S):c.1904T>C (p.Met635Thr)	SNV Germline	Chr1:201075539	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	Criteria Provided Conflicting Classifications		rs_144590408	3 SubmittersRCV001035245 RCV002479165 RCV004004424
NM_000069.3(CACNA1S):c.1591C>T (p.Arg531Cys)	SNV Germline	Chr1:201077907	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	Criteria Provided Conflicting Classifications		rs_751671175	4 SubmittersRCV001101909 RCV001248214 RCV003455023 RCV003455024 RCV003458582
NM_000069.3(CACNA1S):c.4616G>A (p.Arg1539His)	SNV Germline	Chr1:201047167	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_774256022	2 SubmittersRCV001038054 RCV004004718
NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)	SNV Germline	Chr1:201048604	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_540448406	4 SubmittersRCV001040475 RCV001593206 RCV003455165 RCV003455166 RCV003456179 RCV003458597
NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter)	SNV Germline	Chr1:201053481	Pathogenic	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Single Submitter		rs_1660729290	1 SubmittersRCV001061744
NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys)	SNV Germline	Chr1:201053529	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_750637537	1 SubmittersRCV001055832
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_757165791	2 SubmittersRCV001061466 RCV002497445
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	Criteria Provided Conflicting Classifications		rs_373701906	3 SubmittersRCV001070635 RCV002482134 RCV004000191
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 not specified Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_200844059	5 SubmittersRCV001042522 RCV002508281 RCV002481896 RCV003490022 RCV004004750
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	SNV Germline	Chr1:201077916	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	Criteria Provided Multiple Submitters No Conflicts		rs_80338778	6 SubmittersRCV001052970 RCV002307667 RCV002505605 RCV003455233 RCV004017781
NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val)	SNV Germline	Chr1:201083210	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369139165	5 SubmittersRCV001066686 RCV001531029 RCV002482104 RCV004000161 RCV004030622
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 Thyrotoxic periodic paralysis, susceptibility to, 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	Criteria Provided Conflicting Classifications		rs_186538122	3 SubmittersRCV001071065 RCV002489712 RCV003455301 RCV003455303 RCV003455302 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	Criteria Provided Conflicting Classifications		rs_555596737	2 SubmittersRCV001071805 RCV004000208
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	Criteria Provided Conflicting Classifications		rs_753195502	4 SubmittersRCV001057310 RCV002505615 RCV004000087 RCV004031806
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 Inborn genetic diseases Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_753901380	3 SubmittersRCV001056131 RCV002554394 RCV002505610
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		rs_374950276	1 SubmittersRCV001060025
NM_000069.3(CACNA1S):c.5135-3C>T	SNV Germline	Chr1:201040716	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		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	Criteria Provided Conflicting Classifications		rs_372436488	4 SubmittersRCV001092292 RCV001437600 RCV004000216
NM_000069.3(CACNA1S):c.785G>A (p.Arg262Gln)	SNV Germline	Chr1:201089373	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		rs_776311349	2 SubmittersRCV001101987 RCV002555964
NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)	SNV Germline	Chr1:201047567	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 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		rs_373248127	3 SubmittersRCV001099633 RCV002489743 RCV002554942
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		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	Criteria Provided Conflicting Classifications		rs_775845281	2 SubmittersRCV001099722 RCV004000233
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	Criteria Provided Conflicting Classifications		rs_757112281	3 SubmittersRCV001101705 RCV001204746 RCV004000239
NM_000069.3(CACNA1S):c.2892A>G (p.Thr964=)	SNV Germline	Chr1:201062476	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		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		rs_764821044	4 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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_373525085	4 SubmittersRCV001099902 RCV001856354 RCV003449554 RCV003490072 RCV003449553 RCV003458628
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)	SNV Germline	Chr1:201089392	Conflicting classifications of pathogenicity	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 not specified Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_190152688	5 SubmittersRCV001101988 RCV001856390 RCV002489745 RCV003317431 RCV003517298
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		rs_771569004	4 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		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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		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	Criteria Provided Conflicting Classifications		rs_562504992	2 SubmittersRCV001222445 RCV004010745
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		rs_372668776	2 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 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		rs_138768414	3 SubmittersRCV001206885 RCV002491626 RCV004010656
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 Malignant hyperthermia, susceptibility to, 5 CACNA1S-related disorder	Criteria Provided Conflicting Classifications		rs_151218760	5 SubmittersRCV001211964 RCV002484157 RCV002561769 RCV004010685 RCV003945922
NM_000069.3(CACNA1S):c.3143A>G (p.Tyr1048Cys)	SNV Germline	Chr1:201061379	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_745571736	2 SubmittersRCV001205347 RCV002561181
NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)	SNV Germline	Chr1:201061439	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		rs_751604155	3 SubmittersRCV001214058 RCV002561837 RCV003517318
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications		rs_200743095	3 SubmittersRCV001207236 RCV002497711 RCV003413994
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	Criteria Provided Conflicting Classifications		rs_374763528	2 SubmittersRCV001211294 RCV003311962
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 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		rs_750087191	3 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	Criteria Provided Conflicting Classifications		rs_553593355	2 SubmittersRCV001228544 RCV002480751
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 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		rs_554729466	3 SubmittersRCV001230911 RCV002497785 RCV004004837
NM_000069.3(CACNA1S):c.1382C>T (p.Thr461Ile)	SNV Germline	Chr1:201083173	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143202536	2 SubmittersRCV001233206 RCV002563794
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		rs_766892095	2 SubmittersRCV001238729 RCV004004876
NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)	SNV Germline	Chr1:201069494	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_553619980	2 SubmittersRCV001244432 RCV003487282
NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)	SNV Germline	Chr1:201089458	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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_370661912	3 SubmittersRCV001247978 RCV002499431 RCV004004912
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	SNV Germline	Chr1:201069596	Conflicting classifications of pathogenicity	skeletal contractures Muscular atrophy Hypokalemic periodic paralysis, type 1 Congenital myopathy 18 Condition: not provided Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_1157720606	6 SubmittersRCV001254711 RCV003145495 RCV003152617 RCV003456486 RCV003449815 RCV003449816
NM_000069.3(CACNA1S):c.4345G>A (p.Val1449Met)	SNV Germline	Chr1:201048678	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		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		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 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_142286187	2 SubmittersRCV001309209 RCV002476428
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_200334886	2 SubmittersRCV001307461 RCV002499584
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		rs_1356510559	3 SubmittersRCV001294279 RCV003517323
NM_000069.3(CACNA1S):c.1466G>A (p.Arg489His)	SNV Germline	Chr1:201078032	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_553739117	2 SubmittersRCV001297932 RCV002285472
NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)	SNV Germline	Chr1:201040072	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	Criteria Provided Conflicting Classifications		rs_139945826	2 SubmittersRCV001317410 RCV002493660
NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)	SNV Germline	Chr1:201047185	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_772750589	2 SubmittersRCV001326852 RCV003159199
NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)	SNV Germline	Chr1:201048609	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		rs_201257304	2 SubmittersRCV002476535 RCV001326518
NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)	SNV Germline	Chr1:201053247	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_760441649	2 SubmittersRCV001326517 RCV003517325
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 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		rs_200646947	5 SubmittersRCV001323805 RCV002504504 RCV003487284 RCV003517324
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 Thyrotoxic periodic paralysis, susceptibility to, 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		rs_553593355	3 SubmittersRCV001343372 RCV002476584 RCV003449965 RCV003449966 RCV003458673 RCV003449967
NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met)	SNV Germline	Chr1:201110258	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		rs_549107212	4 SubmittersRCV001351212 RCV002493807 RCV002547521 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	Criteria Provided Conflicting Classifications		rs_372383822	2 SubmittersRCV001372444 RCV002548661
NM_000069.3(CACNA1S):c.2974C>G (p.His992Asp)	SNV Germline	Chr1:201062023	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_527520015	2 SubmittersRCV001364882 RCV004006786
NM_000069.3(CACNA1S):c.2956C>T (p.Arg986Cys)	SNV Germline	Chr1:201062041	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_770099347	2 SubmittersRCV001368862 RCV004006816
NM_000069.3(CACNA1S):c.2884A>G (p.Lys962Glu)	SNV Germline	Chr1:201062484	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_200300308	2 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		rs_868409473	2 SubmittersRCV001370038 RCV002493886
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)	SNV Germline	Chr1:201072764	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		rs_752513328	4 SubmittersRCV001372783 RCV003517329 RCV003169919
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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_375704313	4 SubmittersRCV001367798 RCV002285479 RCV002499751
NM_000069.3(CACNA1S):c.85C>T (p.Arg29Trp)	SNV Germline	Chr1:201112255	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_577022740	2 SubmittersRCV001367207 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		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		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 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Congenital myopathy 18 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1	Criteria Provided Conflicting Classifications		rs_574154912	4 SubmittersRCV001411221 RCV002493969 RCV003446746 RCV003446748 RCV003446745 RCV003446747
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		rs_759359831	2 SubmittersRCV001505315 RCV004007224
NM_000069.3(CACNA1S):c.12C>T (p.Ser4=)	SNV Germline	Chr1:201112328	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_1448450110	2 SubmittersRCV001505854 RCV004007226
NM_000069.3(CACNA1S):c.3256-12T>A	SNV Germline	Chr1:201060828	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_374335683	3 SubmittersRCV001565331 RCV002573192 RCV004008937
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		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 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 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		rs_551510986	4 SubmittersRCV001757784 RCV002506804 RCV004009034 RCV002540652
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 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_1224786667	3 SubmittersRCV001758913 RCV002544177 RCV004009035
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		rs_1294455750	2 SubmittersRCV001774900 RCV003772075
NM_000069.3(CACNA1S):c.3415-1G>A	SNV Germline	Chr1:201059300	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_780724976	1 SubmittersRCV002034580
NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)	SNV Germline	Chr1:201048608	Conflicting classifications of pathogenicity	Condition: not provided Malignant hyperthermia, susceptibility to, 5 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	Criteria Provided Conflicting Classifications		rs_201463541	6 SubmittersRCV001840886 RCV002482385 RCV002543266 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	Criteria Provided Conflicting Classifications		rs_756712640	2 SubmittersRCV002025894 RCV003170560
NM_000069.3(CACNA1S):c.2063+1G>A	SNV Germline	Chr1:201074505	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		rs_1407484817	3 SubmittersRCV002034158 RCV003491021 RCV004011170
NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)	SNV Germline	Chr1:201065918	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 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_138708497	3 SubmittersRCV001877178 RCV002478184 RCV002551094
NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)	SNV Germline	Chr1:201039878	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	Criteria Provided Conflicting Classifications		rs_191263754	2 SubmittersRCV002019206 RCV002497997
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)	SNV Germline	Chr1:201083321	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 Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		rs_767052156	4 SubmittersRCV002037707 RCV002479575 RCV003453850 RCV003453849
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 Hypokalemic periodic paralysis, type 1 Thyrotoxic periodic paralysis, susceptibility to, 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_775009783	5 SubmittersRCV001917839 RCV002260713 RCV002506993 RCV002554327
NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)	SNV Germline	Chr1:201077967	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Condition: not provided	Criteria Provided Conflicting Classifications		rs_748021245	2 SubmittersRCV001992037 RCV003491002
NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)	SNV Germline	Chr1:201089332	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		rs_757755172	3 SubmittersRCV001935612 RCV003490939 RCV004010878
NM_000069.3(CACNA1S):c.695-1G>A	SNV Germline	Chr1:201089464	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_1213421499	1 SubmittersRCV002002715
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		rs_760082356	3 SubmittersRCV002022552 RCV002282680 RCV003446985
NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter)	SNV Germline	Chr1:201050457	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_761239255	1 SubmittersRCV001981869
NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile)	SNV Germline	Chr1:201047543	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		rs_775885648	3 SubmittersRCV001942463 RCV002482533 RCV004009218
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)	SNV Germline	Chr1:201084978	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 Condition: not provided	Criteria Provided Conflicting Classifications		rs_756022224	3 SubmittersRCV001903346 RCV002478296 RCV003314707
NM_000069.3(CACNA1S):c.2853+18C>T	SNV Germline	Chr1:201065820	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		rs_768391679	2 SubmittersRCV001917060 RCV002484561
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser)	SNV Germline	Chr1:201066274	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_2102582533	2 SubmittersRCV002025822 RCV002307830
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 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 Thyrotoxic periodic paralysis, susceptibility to, 1 Congenital myopathy 18	Criteria Provided Conflicting Classifications		rs_200434921	3 SubmittersRCV002038246 RCV002486665 RCV003453957 RCV003456271 RCV003456272 RCV003458818
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 Malignant hyperthermia, susceptibility to, 5 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_113812219	4 SubmittersRCV001978602 RCV002497977 RCV002592635 RCV004011081
NM_000069.3(CACNA1S):c.5049-6T>C	SNV Germline	Chr1:201041595	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_372192645	2 SubmittersRCV001957182 RCV004010901
NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter)	SNV Germline	Chr1:201040372	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter		rs_1434902604	1 SubmittersRCV001993393
NM_000069.3(CACNA1S):c.4760C>A (p.Ala1587Asp)	SNV Germline	Chr1:201044365	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_749495704	2 SubmittersRCV001931288 RCV004010912
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_762032797	2 SubmittersRCV001915519 RCV002482793
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 Thyrotoxic periodic paralysis, susceptibility to, 1 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_767790285	3 SubmittersRCV002001260 RCV002479671 RCV004011066
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	Criteria Provided Conflicting Classifications		rs_776908038	2 SubmittersRCV001944023 RCV004010935
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 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		rs_758354862	3 SubmittersRCV001981525 RCV002484733 RCV004010967
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 Thyrotoxic periodic paralysis, susceptibility to, 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 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications		rs_372276351	3 SubmittersRCV001909627 RCV002503570 RCV003446948 RCV003446949 RCV003446950 RCV003446947
NM_000069.3(CACNA1S):c.3953+4C>T	SNV Germline	Chr1:201052553	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder	Criteria Provided Conflicting Classifications		rs_763936268	2 SubmittersRCV001892551 RCV003892917
NM_000069.3(CACNA1S):c.3885G>A (p.Val1295=)	SNV Germline	Chr1:201052625	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_1660694623	2 SubmittersRCV002151065 RCV004005481
NM_000069.3(CACNA1S):c.1151-13C>A	SNV Germline	Chr1:201085044	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_200273802	2 SubmittersRCV002160788 RCV004005486
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		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		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		rs_139373152	2 SubmittersRCV002195722 RCV004005516
NM_000069.3(CACNA1S):c.3690C>T (p.Ile1230=)	SNV Germline	Chr1:201053564	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_1246570435	2 SubmittersRCV002076003 RCV004005422
NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)	SNV Germline	Chr1:201043446	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		rs_576536458	4 SubmittersRCV002176965 RCV003149015 RCV004011197
NM_000069.3(CACNA1S):c.648G>A (p.Glu216=)	SNV Germline	Chr1:201091686	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications		rs_200633947	2 SubmittersRCV002122602 RCV004005394
NM_000069.3(CACNA1S):c.1720G>A (p.Ala574Thr)	SNV Germline	Chr1:201077027	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			4 SubmittersRCV002288338 RCV003101662 RCV003325600
NM_000069.3(CACNA1S):c.2293C>T (p.Gln765Ter)	SNV Germline	Chr1:201070339	Likely pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			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			2 SubmittersRCV002306242 RCV003102288
NM_000069.3(CACNA1S):c.3726G>T (p.Arg1242Ser)	SNV Germline	Chr1:201053528	Likely pathogenic	Hypokalemic periodic paralysis, type 1	No Assertion Criteria Provided			1 SubmittersRCV002306243
NM_000083.3(CLCN1):c.2014C>G (p.Arg672Gly)	SNV Germline	Chr7:143345604	Pathogenic	Hypokalemic periodic paralysis, type 1	No Assertion Criteria Provided			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			2 SubmittersRCV003076692 RCV004009327
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			2 SubmittersRCV003058564 RCV004009320
NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter)	SNV Germline	Chr1:201040625	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003078873
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			3 SubmittersRCV003077777 RCV003077778 RCV004009367
NM_000069.3(CACNA1S):c.258+2T>C	SNV Germline	Chr1:201110162	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003092933
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)	SNV Germline	Chr1:201053539	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			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			1 SubmittersRCV002588291
NM_000069.3(CACNA1S):c.5199A>C (p.Arg1733Ser)	SNV Germline	Chr1:201040649	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV002629601 RCV004009524
NM_000069.3(CACNA1S):c.2635T>C (p.Ser879Pro)	SNV Germline	Chr1:201066909	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV002647291 RCV004009491
NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)	SNV Germline	Chr1:201061410	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			3 SubmittersRCV002628591 RCV003491260 RCV004009498
NM_000069.3(CACNA1S):c.2311G>A (p.Val771Met)	SNV Germline	Chr1:201070321	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV002638202 RCV004009519
NM_000069.3(CACNA1S):c.5312G>A (p.Ser1771Asn)	SNV Germline	Chr1:201040289	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV003117924 RCV004009573
NM_000069.3(CACNA1S):c.3440A>G (p.Asn1147Ser)	SNV Germline	Chr1:201059274	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV003120083 RCV004009585
NM_000069.3(CACNA1S):c.4610T>C (p.Met1537Thr)	SNV Germline	Chr1:201047173	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV002579832 RCV004007486
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			1 SubmittersRCV002613554
NM_000069.3(CACNA1S):c.1282A>T (p.Ile428Phe)	SNV Germline	Chr1:201083273	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002642837 RCV003340530
NM_000069.3(CACNA1S):c.790G>A (p.Gly264Ser)	SNV Germline	Chr1:201089368	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV002727016 RCV004007566
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			1 SubmittersRCV002805994
NM_000069.3(CACNA1S):c.1265G>A (p.Arg422His)	SNV Germline	Chr1:201083290	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			3 SubmittersRCV002780742 RCV003481333 RCV004007600
NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter)	SNV Germline	Chr1:201089364	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV002806462
NM_000069.3(CACNA1S):c.3057G>C (p.Leu1019=)	SNV Germline	Chr1:201061465	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV002847864 RCV004007644
NM_000069.3(CACNA1S):c.4850C>A (p.Ser1617Tyr)	SNV Germline	Chr1:201043479	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002886044 RCV004066004
NM_000069.3(CACNA1S):c.1889C>T (p.Pro630Leu)	SNV Germline	Chr1:201075554	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			3 SubmittersRCV002882236 RCV003409948 RCV004007657
NM_000069.3(CACNA1S):c.1022G>A (p.Arg341Gln)	SNV Germline	Chr1:201085564	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications			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	Criteria Provided Single Submitter			1 SubmittersRCV002894973
NM_000069.3(CACNA1S):c.754C>T (p.Arg252Cys)	SNV Germline	Chr1:201089404	Conflicting classifications of pathogenicity	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV002952962 RCV004007712
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			2 SubmittersRCV003057834 RCV004009288
NM_000069.3(CACNA1S):c.2853+1G>T	SNV Germline	Chr1:201065837	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003057506
NM_000069.3(CACNA1S):c.32T>G (p.Leu11Arg)	SNV Germline	Chr1:201112308	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			3 SubmittersRCV003779707 RCV003217186 RCV004009670
NM_000069.3(CACNA1S):c.1707C>G (p.Phe569Leu)	SNV Germline	Chr1:201077040	Likely pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003314509
NM_000069.3(CACNA1S):c.3256-13G>T	SNV Germline	Chr1:201060829	Conflicting classifications of pathogenicity	not specified Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003317957 RCV003777296
NM_000069.3(CACNA1S):c.2699G>T (p.Arg900Met)	SNV Germline	Chr1:201066275	Pathogenic	Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003320006
NM_000069.3(CACNA1S):c.5207C>T (p.Ala1736Val)	SNV Germline	Chr1:201040641	Conflicting classifications of pathogenicity	CACNA1S-related disorder Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003399971 RCV003778212
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			1 SubmittersRCV003782120
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	Criteria Provided Conflicting Classifications			3 SubmittersRCV003796043 RCV003988149 RCV004006019
NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=)	SNV Germline	Chr1:201077019	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV003788780 RCV004005962
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	Criteria Provided Conflicting Classifications			2 SubmittersRCV003789322 RCV004005977
NM_000069.3(CACNA1S):c.4416C>T (p.Arg1472=)	SNV Germline	Chr1:201048607	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			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	Criteria Provided Single Submitter			1 SubmittersRCV003787594
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			1 SubmittersRCV003787650
NM_000069.3(CACNA1S):c.3680G>A (p.Ser1227Asn)	SNV Germline	Chr1:201053574	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 1 Malignant hyperthermia, susceptibility to, 5 Malignant hyperthermia, susceptibility to, 5	Criteria Provided Conflicting Classifications			2 SubmittersRCV003786130 RCV004005947
NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter)	SNV Germline	Chr1:201061950	Pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003805655
NM_000069.3(CACNA1S):c.1948+2T>C	SNV Germline	Chr1:201075493	Likely pathogenic	Malignant hyperthermia, susceptibility to, 5 Hypokalemic periodic paralysis, type 1	Criteria Provided Single Submitter			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	Criteria Provided Single Submitter			1 SubmittersRCV003817944
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			2 SubmittersRCV003813218 RCV004006081
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			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			1 SubmittersRCV003810338

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

SNV
Germline

Chr17:63941940

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117835

rs_121908544

9 SubmittersRCV000006258 RCV000255921 RCV000206951 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

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA004054

rs_28930068

14 SubmittersRCV000019190 RCV000414086 RCV000627793 RCV003450645 RCV003992159

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

SNV
Germline

Chr1:201053539

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA004048

rs_28930069

6 SubmittersRCV000518061 RCV000693727 RCV003450646 RCV000019191

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

SNV
Germline

Chr1:201077915

Pathogenic

Hypokalemic periodic paralysis, type 1
Condition: not provided
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

Criteria Provided
Multiple Submitters
No Conflicts

CA004021

rs_80338777

13 SubmittersRCV000019192 RCV000414449 RCV000627794 RCV002504808

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

SNV
Germline

Chr1:201066283

Conflicting classifications of pathogenicity

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

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

4 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

Criteria Provided
Multiple Submitters
No Conflicts

CA345720

rs_527236150

7 SubmittersRCV000132737 RCV000254971 RCV000797599 RCV002305449

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

Criteria Provided
Conflicting Classifications

CA004058

rs_145910245

10 SubmittersRCV000148444 RCV000181043 RCV000586717 RCV001081599 RCV002225085 RCV003917462

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

SNV
Germline

Chr1:201043324

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

rs_199989324

4 SubmittersRCV002918364 RCV003418637 RCV003517439

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

Criteria Provided
Conflicting Classifications

CA004075

rs_141204958

9 SubmittersRCV000210886 RCV000455562 RCV000651228 RCV000755673 RCV000996101 RCV003318365

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

SNV
Germline

Chr1:201058493

Conflicting classifications of pathogenicity

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

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

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

Criteria Provided
Conflicting Classifications

CA078249

rs_528563981

5 SubmittersRCV000372195 RCV000863576 RCV000246687 RCV002500845 RCV003332158

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

Criteria Provided
Conflicting Classifications

CA082871

rs_139491817

6 SubmittersRCV000242506 RCV000367694 RCV000711144 RCV001082151 RCV003165683

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

8 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
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

CA083665

rs_146696748

4 SubmittersRCV000362920 RCV000815102 RCV003454873 RCV003454872 RCV003458395

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

SNV
Germline

Chr1:201043447

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083619

rs_200848930

4 SubmittersRCV000287248 RCV000379008 RCV000711148 RCV000692277

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

Criteria Provided
Conflicting Classifications

CA083441

rs_764330337

4 SubmittersRCV000380331 RCV000810862 RCV001356451

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

SNV
Germline

Chr1:201062491

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

CA079358

rs_138328785

3 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
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10608735

rs_150708636

3 SubmittersRCV000338620 RCV000651248 RCV003884450

NM_000069.3(CACNA1S):c.1948+13G>C

SNV
Germline

Chr1:201075482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078686

rs_538625530

3 SubmittersRCV000311304 RCV000355929 RCV000418638 RCV002059419

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

SNV
Germline

Chr1:201085443

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA077973

rs_144883479

6 SubmittersRCV000324715 RCV000866071 RCV001288112 RCV002292504 RCV002504041

NM_000069.3(CACNA1S):c.152+14C>T

SNV
Germline

Chr1:201112174

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078288

rs_201285556

2 SubmittersRCV000397320 RCV000370884 RCV002059420

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

Criteria Provided
Conflicting Classifications

CA082677

rs_148870919

4 SubmittersRCV000372331 RCV000651218 RCV001092293

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

Criteria Provided
Conflicting Classifications

CA078658

rs_201784750

3 SubmittersRCV000376805 RCV000552279 RCV001705442

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

4 SubmittersRCV000381485 RCV001850519 RCV003417940 RCV003995801

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

SNV
Germline

Chr1:201083203

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA078157

rs_35521793

5 SubmittersRCV000484498 RCV000263862 RCV000697995 RCV003517182 RCV003165797

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

SNV
Germline

Chr1:201087921

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA084059

rs_760398733

2 SubmittersRCV000325894 RCV001421972

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

SNV
Germline

Chr1:201039943

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083885

rs_200765341

5 SubmittersRCV000398256 RCV000551485 RCV001571219 RCV003957538

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

SNV
Germline

Chr1:201044349

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

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

Criteria Provided
Conflicting Classifications

CA083377

rs_533353353

3 SubmittersRCV000376799 RCV000554452 RCV001463001

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

Criteria Provided
Conflicting Classifications

CA083347

rs_200538716

3 SubmittersRCV000352167 RCV000994224 RCV001447393

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

Criteria Provided
Conflicting Classifications

CA082928

rs_780390034

3 SubmittersRCV000337244 RCV001364039 RCV002508209

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

Criteria Provided
Conflicting Classifications

CA078677

rs_760246258

5 SubmittersRCV000267151 RCV000651225 RCV000994231 RCV003298356

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

Criteria Provided
Conflicting Classifications

CA078649

rs_147888089

2 SubmittersRCV000265931 RCV001295829

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

SNV
Germline

Chr1:201077002

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078549

rs_377459546

3 SubmittersRCV000299085 RCV000689050 RCV001753751

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

SNV
Germline

Chr1:201083187

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078162

rs_767568799

2 SubmittersRCV000397226 RCV001466152

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

Criteria Provided
Conflicting Classifications

CA083604

rs_146619460

3 SubmittersRCV000281287 RCV001850517 RCV002504037

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

SNV
Germline

Chr1:201089269

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

CA084030

rs_138205421

4 SubmittersRCV000296457 RCV000811152 RCV003454913 RCV003458419 RCV003454912

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

SNV
Germline

Chr1:201093879

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083015

rs_764710968

6 SubmittersRCV000307110 RCV000397402 RCV000651213 RCV000835462 RCV003517183

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

SNV
Germline

Chr1:201044373

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083563

rs_763069723

2 SubmittersRCV000351633 RCV000555819

NM_000069.3(CACNA1S):c.3027G>A (p.Thr1009=)

SNV
Germline

Chr1:201061970

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

CA079486

rs_371818752

4 SubmittersRCV000259670 RCV001053276 RCV003454886 RCV003458404 RCV003454885

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

Criteria Provided
Conflicting Classifications

CA079447

rs_140453525

5 SubmittersRCV000345175 RCV001241998 RCV001705441 RCV003401281 RCV003910073

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

SNV
Germline

Chr1:201066950

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA079124

rs_545411173

3 SubmittersRCV000329590 RCV000867936 RCV003221891

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

SNV
Germline

Chr1:201069522

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 1
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

9 SubmittersRCV000524917 RCV000397662 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

4 SubmittersRCV000317251 RCV000651242 RCV003910074 RCV003995799

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

SNV
Germline

Chr1:201077119

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis
Malignant hyperthermia of anesthesia
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 SubmittersRCV000350182 RCV000375261 RCV001850520 RCV002494914 RCV003995802

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

SNV
Germline

Chr1:201089415

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083982

rs_200665694

6 SubmittersRCV000357931 RCV000553064 RCV000996099

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

SNV
Germline

Chr1:201091736

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083920

rs_527702358

6 SubmittersRCV000275090 RCV000383532 RCV000704043 RCV002522094 RCV001775757

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

Criteria Provided
Conflicting Classifications

CA078019

rs_148770452

3 SubmittersRCV000414075 RCV000699469 RCV000996097 RCV002502444

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

Criteria Provided
Conflicting Classifications

CA16603474

rs_892742196

4 SubmittersRCV000529294 RCV002264936 RCV003897864 RCV003996060

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

4 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
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

CA083451

rs_765581827

4 SubmittersRCV000422829 RCV001397065 RCV003456073 RCV003458436 RCV003456074 RCV003456072

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

Criteria Provided
Conflicting Classifications

CA082876

rs_774300377

3 SubmittersRCV000420857 RCV001063783 RCV004000504

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

SNV
Germline

Chr1:201062077

Conflicting classifications of pathogenicity

Condition: not provided
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

CA079417

rs_757840865

3 SubmittersRCV000437112 RCV000534363 RCV002480310

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

Criteria Provided
Conflicting Classifications

CA079088

rs_369192794

3 SubmittersRCV000425186 RCV001861555 RCV004000425

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

Criteria Provided
Conflicting Classifications

CA083605

rs_138265497

3 SubmittersRCV000419892 RCV001243309

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
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

CA078171

rs_143202536

4 SubmittersRCV000442859 RCV000706844 RCV002488987 RCV004000598

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

SNV
Germline

Chr1:201041533

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083723

rs_201310235

3 SubmittersRCV000440915 RCV001230161 RCV002522473

NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)

SNV
Germline

Chr1:201089450

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA083971

rs_754213830

4 SubmittersRCV000435466 RCV000651270 RCV003487270 RCV002502524

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

Criteria Provided
Conflicting Classifications

CA078801

rs_771706267

2 SubmittersRCV000436745 RCV001088952

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

Criteria Provided
Conflicting Classifications

CA083722

rs_550371466

6 SubmittersRCV000454946 RCV000782224 RCV000814679 RCV001096066

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

SNV
Germline

Chr1:201075494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA078688

rs_745712829

4 SubmittersRCV004000600 RCV001218682 RCV000455181 RCV000782247

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16617039

rs_367983954

3 SubmittersRCV000485404 RCV001851237 RCV003449237 RCV003449236

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

Criteria Provided
Conflicting Classifications

CA078805

rs_147112322

4 SubmittersRCV000485685 RCV000697159 RCV001288113 RCV001724025

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

SNV
Germline

Chr1:201083186

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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA078164

rs_372374492

5 SubmittersRCV000482187 RCV001212349 RCV002526955 RCV002475950 RCV004003404

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

SNV
Germline

Chr1:201091715

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083926

rs_767571919

3 SubmittersRCV000483307 RCV000528426 RCV002526575

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

Criteria Provided
Conflicting Classifications

CA079143

rs_140330831

9 SubmittersRCV000651220 RCV000729718 RCV001356834 RCV001356678 RCV001356134 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

Criteria Provided
Conflicting Classifications

CA078266

rs_150590855

6 SubmittersRCV000487733 RCV000697677 RCV001096477 RCV003168987

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

Criteria Provided
Conflicting Classifications

CA083624

rs_146885451

4 SubmittersRCV000489613 RCV000703733 RCV002506187 RCV002527025

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

SNV
Germline

Chr1:201074521

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

Criteria Provided
Conflicting Classifications

CA078757

rs_141031133

5 SubmittersRCV000494517 RCV000688405 RCV001262359 RCV002481562 RCV004003478

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

SNV
Germline

Chr1:201075539

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

CA078659

rs_144590408

3 SubmittersRCV000494538 RCV001856961 RCV004003477

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

SNV
Germline

Chr1:201089385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083997

rs_35534614

5 SubmittersRCV000514356 RCV001081811 RCV003935341 RCV003517213

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
Malignant hyperthermia, susceptibility to, 5
Condition: not provided

Criteria Provided
Conflicting Classifications

CA079631

rs_142102094

4 SubmittersRCV000517687 RCV000651222 RCV004003589 RCV001755763

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

Criteria Provided
Conflicting Classifications

CA078265

rs_532351874

4 SubmittersRCV000518320 RCV001241845 RCV003487271 RCV004023496

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

Criteria Provided
Conflicting Classifications

CA083622

rs_747238231

5 SubmittersRCV000517318 RCV001098317 RCV001321210 RCV003517214

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

SNV
Germline

Chr17:63941930

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292957365

rs_748517635

4 SubmittersRCV000532008 RCV002305499 RCV002267617 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

Criteria Provided
Conflicting Classifications

CA078972

rs_760674518

3 SubmittersRCV000519296 RCV001225189

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

SNV
Germline

Chr1:201092031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083608

rs_141521945

3 SubmittersRCV000522368 RCV000801970 RCV003159691

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
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

CA35978916

rs_80338777

5 SubmittersRCV000549801 RCV002293456 RCV002491092 RCV003517221 RCV003419987

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

SNV
Germline

Chr1:201077995

Pathogenic

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

Criteria Provided
Single Submitter

CA344121959

rs_762294904

1 SubmittersRCV000536378

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

Criteria Provided
Conflicting Classifications

CA083800

rs_200434921

5 SubmittersRCV000544824 RCV001096065 RCV001257060 RCV003517223

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

SNV
Germline

Chr1:201054507

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

CA082696

rs_202240111

4 SubmittersRCV000559232 RCV003419988 RCV002530229 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
Thyrotoxic periodic paralysis, susceptibility to, 1
Hypokalemic periodic paralysis, type 1
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

CA079004

rs_199758244

3 SubmittersRCV000554629 RCV002483487 RCV003999450

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

SNV
Germline

Chr1:201085495

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

Criteria Provided
Conflicting Classifications

CA077944

rs_763360081

3 SubmittersRCV000529687 RCV001584331 RCV002483486

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

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

Criteria Provided
Conflicting Classifications

CA082926

rs_749856222

3 SubmittersRCV000549714 RCV002476193 RCV003223654

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

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

Criteria Provided
Conflicting Classifications

CA082633

rs_200366112

3 SubmittersRCV000546815 RCV002506366 RCV003487272

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

Criteria Provided
Conflicting Classifications

CA083461

rs_761768992

2 SubmittersRCV000526070 RCV004024262

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

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA084070

rs_556751671

4 SubmittersRCV000555155 RCV000765034 RCV002060354 RCV003338664

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

Criteria Provided
Conflicting Classifications

CA35996896

rs_201998231

5 SubmittersRCV000599312 RCV000699379 RCV002498880 RCV003451352 RCV003456099

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

SNV
Germline

Chr1:201091973

Conflicting classifications of pathogenicity

not specified
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
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.4377C>T (p.Gly1459=)

SNV
Germline

Chr1:201048646

Conflicting classifications of pathogenicity

not specified
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

Criteria Provided
Conflicting Classifications

CA083316

rs_138189035

4 SubmittersRCV000605825 RCV000983807 RCV003451442 RCV003456108 RCV003456107 RCV003458478

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

Criteria Provided
Conflicting Classifications

CA083110

rs_182873269

2 SubmittersRCV001044201 RCV001707818

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

Criteria Provided
Conflicting Classifications

CA079205

rs_140924492

3 SubmittersRCV001242982 RCV001718903

NM_000069.3(CACNA1S):c.900+9G>A

SNV
Germline

Chr1:201089249

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA658795584

rs_1454687459

2 SubmittersRCV000613168 RCV001860279

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

Criteria Provided
Conflicting Classifications

CA082807

rs_530655602

3 SubmittersRCV000651253 RCV001084742 RCV003953182

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

SNV
Germline

Chr1:201043468

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA1321791

rs_756066219

3 SubmittersRCV000651212 RCV002485470 RCV002530539

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

SNV
Germline

Chr1:201041591

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA083706

rs_148989517

4 SubmittersRCV000651268 RCV002248848 RCV002260656 RCV002469236

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

Criteria Provided
Conflicting Classifications

CA083555

rs_183195890

5 SubmittersRCV000651269 RCV003451581 RCV003451582 RCV002493045 RCV003953183 RCV004025825 RCV003451580 RCV003458497

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

SNV
Germline

Chr1:201040363

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA35989714

rs_374660431

2 SubmittersRCV000651262 RCV004004095

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

SNV
Germline

Chr1:201077941

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

Criteria Provided
Conflicting Classifications

CA078399

rs_200066766

3 SubmittersRCV000651227 RCV002477450 RCV004004092

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

SNV
Germline

Chr1:201083207

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

Criteria Provided
Conflicting Classifications

CA078156

rs_150218077

2 SubmittersRCV000651229 RCV002477451

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
Inborn genetic diseases
CACNA1S-related disorder
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

rs_138364213

6 SubmittersRCV000658423 RCV001096478 RCV001855376 RCV002536327 RCV003392506 RCV004004191

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

Criteria Provided
Conflicting Classifications

rs_138837077

3 SubmittersRCV000700646 RCV001310554

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

Criteria Provided
Conflicting Classifications

rs_138541733

3 SubmittersRCV000699806 RCV001262360 RCV002485714

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

Criteria Provided
Conflicting Classifications

rs_369931782

3 SubmittersRCV000687088 RCV000765033 RCV004026255

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

Criteria Provided
Conflicting Classifications

rs_368421264

2 SubmittersRCV000707372 RCV001555937

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

Criteria Provided
Conflicting Classifications

rs_145039828

4 SubmittersRCV000686554 RCV002477528 RCV002547103 RCV004004250

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

Criteria Provided
Conflicting Classifications

rs_777328046

2 SubmittersRCV000707737 RCV002477637

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
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

rs_375318710

3 SubmittersRCV000688155 RCV002477536 RCV004004277

NM_000069.3(CACNA1S):c.1827+6C>T

SNV
Germline

Chr1:201076914

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

Criteria Provided
Conflicting Classifications

rs_202244301

5 SubmittersRCV000689838 RCV002485628 RCV003446350 RCV003446351 RCV003446349 RCV003446348 RCV003907948

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

SNV
Germline

Chr1:201058487

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774511818

2 SubmittersRCV000695256 RCV003517258

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
Condition: not provided
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

rs_369332959

3 SubmittersRCV000694312 RCV003389726 RCV003999613

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

rs_1558056376

3 SubmittersRCV000687375 RCV001784310 RCV003446347 RCV003486917

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

SNV
Germline

Chr1:201061984

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
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

rs_149658326

3 SubmittersRCV000693824 RCV002477571 RCV003892548

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

Criteria Provided
Conflicting Classifications

rs_751247956

2 SubmittersRCV000690461 RCV003999545

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

SNV
Germline

Chr1:201083170

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
Hypokalemic periodic paralysis, type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_146696298

5 SubmittersRCV000711137 RCV000765032 RCV001078851 RCV001098228 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

Criteria Provided
Conflicting Classifications

rs_750807406

3 SubmittersRCV000714537 RCV001868336 RCV003999799

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

SNV
Germline

Chr1:201089258

Pathogenic/Likely pathogenic

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
Multiple Submitters
No Conflicts

rs_148317787

3 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

rs_202131129

4 SubmittersRCV000780079 RCV001766618 RCV001856184 RCV004001512

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

SNV
Germline

Chr1:201050983

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

rs_1558056376

4 SubmittersRCV000782244 RCV001378977 RCV003141766 RCV003446433

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

SNV
Germline

Chr1:201053459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201627041

6 SubmittersRCV000782249 RCV002493431 RCV001377927 RCV003453617 RCV003453618

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

SNV
Germline

Chr1:201070363

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770073633

4 SubmittersRCV000782246 RCV001869163 RCV003458516 RCV003456143 RCV003456144 RCV002493430 RCV003453616

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

Criteria Provided
Conflicting Classifications

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
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

rs_201310235

5 SubmittersRCV000801799 RCV002282371 RCV002495076 RCV004001641 RCV004028075

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

SNV
Germline

Chr1:201043357

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_147392278

4 SubmittersRCV000791823 RCV001805856 RCV002535852 RCV003975321

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

Criteria Provided
Conflicting Classifications

rs_751048080

3 SubmittersRCV000807837 RCV003353041 RCV002487735

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

SNV
Germline

Chr1:201044394

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_202120583

2 SubmittersRCV000797715 RCV003517268

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

SNV
Germline

Chr1:201047144

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_757433005

2 SubmittersRCV000794541 RCV000994222

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

Criteria Provided
Conflicting Classifications

rs_371849585

4 SubmittersRCV000810717 RCV002281136 RCV002537341

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

Criteria Provided
Conflicting Classifications

rs_756438139

4 SubmittersRCV000822773 RCV001508030 RCV003517272

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

rs_563795648

1 SubmittersRCV000794912

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

SNV
Germline

Chr1:201053568

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

Criteria Provided
Conflicting Classifications

rs_774416016

3 SubmittersRCV000813312 RCV001776027 RCV002495139

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

Criteria Provided
Conflicting Classifications

rs_774884290

3 SubmittersRCV000810949 RCV002487763 RCV003225128

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

SNV
Germline

Chr1:201062027

Pathogenic

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

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_747618077

4 SubmittersRCV000796459 RCV001336099 RCV002507377 RCV003166141

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

SNV
Germline

Chr1:201066248

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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

rs_139935847

4 SubmittersRCV000820172 RCV001571550 RCV002495170 RCV004002821

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

SNV
Germline

Chr1:201066951

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201205904

4 SubmittersRCV000800242 RCV002495065 RCV003517269 RCV003489884

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

SNV
Germline

Chr1:201069582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_373328930

4 SubmittersRCV000820892 RCV004002826 RCV004029052 RCV002495172

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572048220

3 SubmittersRCV003453734 RCV003456151 RCV000824015 RCV002501148

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

Criteria Provided
Conflicting Classifications

rs_748711395

3 SubmittersRCV000797737 RCV001101908 RCV004546563

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

SNV
Germline

Chr1:201085002

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

rs_112236248

3 SubmittersRCV000807536 RCV002507400 RCV003517271

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

SNV
Germline

Chr1:201089261

Pathogenic

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

Criteria Provided
Single Submitter

rs_1572059904

1 SubmittersRCV000804884

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

SNV
Germline

Chr1:201112254

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_758594181

2 SubmittersRCV000813617 RCV004001752

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

SNV
Germline

Chr1:201043533

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1428157373

5 SubmittersRCV000792372 RCV002473138 RCV001784407 RCV003446434

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

SNV
Germline

Chr1:201059188

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_1572033599

1 SubmittersRCV000809616

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

rs_1572036396

1 SubmittersRCV000809846

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

SNV
Germline

Chr1:201069467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_369813191

3 SubmittersRCV000842082 RCV000800505 RCV003965593

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

rs_1287079817

4 SubmittersRCV000853588 RCV001310556 RCV001869308 RCV003453774

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

SNV
Germline

Chr1:201083230

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_202217590

2 SubmittersRCV000870095 RCV001258166

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

rs_756008578

3 SubmittersRCV000867937 RCV001096583 RCV004003010

NM_000069.3(CACNA1S):c.681C>T (p.Tyr227=)

SNV
Germline

Chr1:201091653

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_371991382

2 SubmittersRCV000868105 RCV004003013

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

rs_548832647

2 SubmittersRCV000868745 RCV004003024

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

SNV
Germline

Chr1:201065853

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

Criteria Provided
Conflicting Classifications

rs_759934490

5 SubmittersRCV000887743 RCV002501438 RCV003454930 RCV003454931 RCV003413713 RCV003454932 RCV003458569

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

SNV
Germline

Chr1:201083241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_146400205

2 SubmittersRCV000926262 RCV004003214

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

rs_373609219

4 SubmittersRCV000932322 RCV001101989 RCV001172224 RCV004003246

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

Criteria Provided
Conflicting Classifications

rs_978624647

3 SubmittersRCV000986500 RCV001869336 RCV004004416

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

SNV
Unknown

Chr1:201077013

Likely pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

rs_1572049461

1 SubmittersRCV000986501

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

SNV
Germline

Chr1:201039946

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

rs_368214163

3 SubmittersRCV001242712 RCV003883484 RCV004004423

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

SNV
Germline

Chr1:201047523

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1572023336

3 SubmittersRCV000994223 RCV001376758 RCV003446575 RCV003446576

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

SNV
Germline

Chr1:201066285

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1572039465

2 SubmittersRCV000994229 RCV002549855

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

SNV
Germline

Chr1:201075539

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

Criteria Provided
Conflicting Classifications

rs_144590408

3 SubmittersRCV001035245 RCV002479165 RCV004004424

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

SNV
Germline

Chr1:201077907

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

Criteria Provided
Conflicting Classifications

rs_751671175

4 SubmittersRCV001101909 RCV001248214 RCV003455023 RCV003455024 RCV003458582

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

SNV
Germline

Chr1:201047167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_774256022

2 SubmittersRCV001038054 RCV004004718

NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)

SNV
Germline

Chr1:201048604

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_540448406

4 SubmittersRCV001040475 RCV001593206 RCV003455165 RCV003455166 RCV003456179 RCV003458597

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

SNV
Germline

Chr1:201053481

Pathogenic

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

Criteria Provided
Single Submitter

rs_1660729290

1 SubmittersRCV001061744

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

SNV
Germline

Chr1:201053529

Pathogenic

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

Criteria Provided
Single Submitter

rs_750637537

1 SubmittersRCV001055832

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

Criteria Provided
Conflicting Classifications

rs_757165791

2 SubmittersRCV001061466 RCV002497445

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

Criteria Provided
Conflicting Classifications

rs_373701906

3 SubmittersRCV001070635 RCV002482134 RCV004000191

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

Criteria Provided
Conflicting Classifications

rs_200844059

5 SubmittersRCV001042522 RCV002508281 RCV002481896 RCV003490022 RCV004004750

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

SNV
Germline

Chr1:201077916

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_80338778

6 SubmittersRCV001052970 RCV002307667 RCV002505605 RCV003455233 RCV004017781

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

SNV
Germline

Chr1:201083210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_369139165

5 SubmittersRCV001066686 RCV001531029 RCV002482104 RCV004000161 RCV004030622

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
Thyrotoxic periodic paralysis, susceptibility to, 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

Criteria Provided
Conflicting Classifications

rs_186538122

3 SubmittersRCV001071065 RCV002489712 RCV003455301 RCV003455303 RCV003455302 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

Criteria Provided
Conflicting Classifications

rs_555596737

2 SubmittersRCV001071805 RCV004000208

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

Criteria Provided
Conflicting Classifications

rs_753195502

4 SubmittersRCV001057310 RCV002505615 RCV004000087 RCV004031806

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

Criteria Provided
Conflicting Classifications

rs_753901380

3 SubmittersRCV001056131 RCV002554394 RCV002505610

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

rs_374950276

1 SubmittersRCV001060025

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

SNV
Germline

Chr1:201040716

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_372436488

4 SubmittersRCV001092292 RCV001437600 RCV004000216

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

SNV
Germline

Chr1:201089373

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776311349

2 SubmittersRCV001101987 RCV002555964

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

SNV
Germline

Chr1:201047567

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 1
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

rs_373248127

3 SubmittersRCV001099633 RCV002489743 RCV002554942

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

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

Criteria Provided
Conflicting Classifications

rs_775845281

2 SubmittersRCV001099722 RCV004000233

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

Criteria Provided
Conflicting Classifications

rs_757112281

3 SubmittersRCV001101705 RCV001204746 RCV004000239

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

SNV
Germline

Chr1:201062476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

rs_764821044

4 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
Malignant hyperthermia, susceptibility to, 5
Hypokalemic periodic paralysis, type 1
Thyrotoxic periodic paralysis, susceptibility to, 1
Condition: not provided
Malignant hyperthermia, susceptibility to, 5
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

rs_373525085

4 SubmittersRCV001099902 RCV001856354 RCV003449554 RCV003490072 RCV003449553 RCV003458628

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

SNV
Germline

Chr1:201089392

Conflicting classifications of pathogenicity

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
not specified
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

rs_190152688

5 SubmittersRCV001101988 RCV001856390 RCV002489745 RCV003317431 RCV003517298

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

rs_771569004

4 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

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Conflicting Classifications

rs_562504992

2 SubmittersRCV001222445 RCV004010745

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

rs_372668776

2 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
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

rs_138768414

3 SubmittersRCV001206885 RCV002491626 RCV004010656

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
Malignant hyperthermia, susceptibility to, 5
CACNA1S-related disorder

Criteria Provided
Conflicting Classifications

rs_151218760

5 SubmittersRCV001211964 RCV002484157 RCV002561769 RCV004010685 RCV003945922

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

SNV
Germline

Chr1:201061379

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_745571736

2 SubmittersRCV001205347 RCV002561181

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

SNV
Germline

Chr1:201061439

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

rs_751604155

3 SubmittersRCV001214058 RCV002561837 RCV003517318

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

Criteria Provided
Conflicting Classifications

rs_200743095

3 SubmittersRCV001207236 RCV002497711 RCV003413994

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

Criteria Provided
Conflicting Classifications

rs_374763528

2 SubmittersRCV001211294 RCV003311962

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
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

rs_750087191

3 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

Criteria Provided
Conflicting Classifications

rs_553593355

2 SubmittersRCV001228544 RCV002480751

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
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

rs_554729466

3 SubmittersRCV001230911 RCV002497785 RCV004004837

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

SNV
Germline

Chr1:201083173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_143202536

2 SubmittersRCV001233206 RCV002563794

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

rs_766892095

2 SubmittersRCV001238729 RCV004004876

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

SNV
Germline

Chr1:201069494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_553619980

2 SubmittersRCV001244432 RCV003487282

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

SNV
Germline

Chr1:201089458

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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

rs_370661912

3 SubmittersRCV001247978 RCV002499431 RCV004004912

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

SNV
Germline

Chr1:201069596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1157720606

6 SubmittersRCV001254711 RCV003145495 RCV003152617 RCV003456486 RCV003449815 RCV003449816

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

SNV
Germline

Chr1:201048678

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_142286187

2 SubmittersRCV001309209 RCV002476428

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

Criteria Provided
Conflicting Classifications

rs_200334886

2 SubmittersRCV001307461 RCV002499584

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

rs_1356510559

3 SubmittersRCV001294279 RCV003517323

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

SNV
Germline

Chr1:201078032

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_553739117

2 SubmittersRCV001297932 RCV002285472

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

SNV
Germline

Chr1:201040072

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

Criteria Provided
Conflicting Classifications

rs_139945826

2 SubmittersRCV001317410 RCV002493660

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

SNV
Germline

Chr1:201047185

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_772750589

2 SubmittersRCV001326852 RCV003159199

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

SNV
Germline

Chr1:201048609

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_201257304

2 SubmittersRCV002476535 RCV001326518

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

SNV
Germline

Chr1:201053247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_760441649

2 SubmittersRCV001326517 RCV003517325

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
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

rs_200646947

5 SubmittersRCV001323805 RCV002504504 RCV003487284 RCV003517324

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
Thyrotoxic periodic paralysis, susceptibility to, 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

rs_553593355

3 SubmittersRCV001343372 RCV002476584 RCV003449965 RCV003449966 RCV003458673 RCV003449967

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

SNV
Germline

Chr1:201110258

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

rs_549107212

4 SubmittersRCV001351212 RCV002493807 RCV002547521 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

Criteria Provided
Conflicting Classifications

rs_372383822

2 SubmittersRCV001372444 RCV002548661

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

SNV
Germline

Chr1:201062023

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_527520015

2 SubmittersRCV001364882 RCV004006786

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

SNV
Germline

Chr1:201062041

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_770099347

2 SubmittersRCV001368862 RCV004006816

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

SNV
Germline

Chr1:201062484

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200300308

2 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

rs_868409473

2 SubmittersRCV001370038 RCV002493886

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

SNV
Germline

Chr1:201072764

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

rs_752513328

4 SubmittersRCV001372783 RCV003517329 RCV003169919

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

Criteria Provided
Conflicting Classifications

rs_375704313

4 SubmittersRCV001367798 RCV002285479 RCV002499751

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

SNV
Germline

Chr1:201112255

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_577022740

2 SubmittersRCV001367207 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

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

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

Criteria Provided
Conflicting Classifications

rs_574154912

4 SubmittersRCV001411221 RCV002493969 RCV003446746 RCV003446748 RCV003446745 RCV003446747

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

rs_759359831

2 SubmittersRCV001505315 RCV004007224

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

SNV
Germline

Chr1:201112328

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1448450110

2 SubmittersRCV001505854 RCV004007226

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

SNV
Germline

Chr1:201060828

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374335683

3 SubmittersRCV001565331 RCV002573192 RCV004008937

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

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
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
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

rs_551510986

4 SubmittersRCV001757784 RCV002506804 RCV004009034 RCV002540652

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
Malignant hyperthermia, susceptibility to, 5

Criteria Provided
Conflicting Classifications

rs_1224786667

3 SubmittersRCV001758913 RCV002544177 RCV004009035

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

rs_1294455750

2 SubmittersRCV001774900 RCV003772075

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

SNV
Germline

Chr1:201059300

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_780724976

1 SubmittersRCV002034580

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

SNV
Germline

Chr1:201048608

Conflicting classifications of pathogenicity

Condition: not provided
Malignant hyperthermia, susceptibility to, 5
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

Criteria Provided
Conflicting Classifications

rs_201463541

6 SubmittersRCV001840886 RCV002482385 RCV002543266 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

Criteria Provided
Conflicting Classifications

rs_756712640

2 SubmittersRCV002025894 RCV003170560

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

SNV
Germline

Chr1:201074505

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

rs_1407484817

3 SubmittersRCV002034158 RCV003491021 RCV004011170

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

SNV
Germline

Chr1:201065918

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_138708497

3 SubmittersRCV001877178 RCV002478184 RCV002551094

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

SNV
Germline

Chr1:201039878

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

Criteria Provided
Conflicting Classifications

rs_191263754

2 SubmittersRCV002019206 RCV002497997

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

SNV
Germline

Chr1:201083321

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

Criteria Provided
Conflicting Classifications

rs_767052156

4 SubmittersRCV002037707 RCV002479575 RCV003453850 RCV003453849

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

Criteria Provided
Conflicting Classifications

rs_775009783

5 SubmittersRCV001917839 RCV002260713 RCV002506993 RCV002554327

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

SNV
Germline

Chr1:201077967

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_748021245

2 SubmittersRCV001992037 RCV003491002

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

SNV
Germline

Chr1:201089332

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

rs_757755172

3 SubmittersRCV001935612 RCV003490939 RCV004010878

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

SNV
Germline

Chr1:201089464

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_1213421499

1 SubmittersRCV002002715

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

rs_760082356

3 SubmittersRCV002022552 RCV002282680 RCV003446985

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

SNV
Germline

Chr1:201050457

Pathogenic

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

Criteria Provided
Single Submitter

rs_761239255

1 SubmittersRCV001981869

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

SNV
Germline

Chr1:201047543

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

rs_775885648

3 SubmittersRCV001942463 RCV002482533 RCV004009218

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

SNV
Germline

Chr1:201084978

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_756022224

3 SubmittersRCV001903346 RCV002478296 RCV003314707

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

SNV
Germline

Chr1:201065820

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

rs_768391679

2 SubmittersRCV001917060 RCV002484561

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

SNV
Germline

Chr1:201066274

Likely pathogenic

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

Criteria Provided
Single Submitter

rs_2102582533

2 SubmittersRCV002025822 RCV002307830

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
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
Thyrotoxic periodic paralysis, susceptibility to, 1
Congenital myopathy 18

Criteria Provided
Conflicting Classifications

rs_200434921

3 SubmittersRCV002038246 RCV002486665 RCV003453957 RCV003456271 RCV003456272 RCV003458818

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

Criteria Provided
Conflicting Classifications

rs_113812219

4 SubmittersRCV001978602 RCV002497977 RCV002592635 RCV004011081

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

SNV
Germline

Chr1:201041595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372192645

2 SubmittersRCV001957182 RCV004010901

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

SNV
Germline

Chr1:201040372

Pathogenic

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

Criteria Provided
Single Submitter

rs_1434902604

1 SubmittersRCV001993393

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

SNV
Germline

Chr1:201044365

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_749495704

2 SubmittersRCV001931288 RCV004010912

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

Criteria Provided
Conflicting Classifications

rs_762032797

2 SubmittersRCV001915519 RCV002482793

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

Criteria Provided
Conflicting Classifications

rs_767790285

3 SubmittersRCV002001260 RCV002479671 RCV004011066

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

Criteria Provided
Conflicting Classifications

rs_776908038

2 SubmittersRCV001944023 RCV004010935

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
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

rs_758354862

3 SubmittersRCV001981525 RCV002484733 RCV004010967

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
Thyrotoxic periodic paralysis, susceptibility to, 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
Hypokalemic periodic paralysis, type 1

Criteria Provided
Conflicting Classifications

rs_372276351

3 SubmittersRCV001909627 RCV002503570 RCV003446948 RCV003446949 RCV003446950 RCV003446947

NM_000069.3(CACNA1S):c.3953+4C>T

SNV
Germline

Chr1:201052553

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_763936268

2 SubmittersRCV001892551 RCV003892917

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

SNV
Germline

Chr1:201052625

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1660694623

2 SubmittersRCV002151065 RCV004005481

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

SNV
Germline

Chr1:201085044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200273802

2 SubmittersRCV002160788 RCV004005486

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

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

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

rs_139373152

2 SubmittersRCV002195722 RCV004005516

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

SNV
Germline

Chr1:201053564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1246570435

2 SubmittersRCV002076003 RCV004005422

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

SNV
Germline

Chr1:201043446

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

rs_576536458

4 SubmittersRCV002176965 RCV003149015 RCV004011197

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

SNV
Germline

Chr1:201091686

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_200633947

2 SubmittersRCV002122602 RCV004005394

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

SNV
Germline

Chr1:201077027

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

4 SubmittersRCV002288338 RCV003101662 RCV003325600

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

SNV
Germline

Chr1:201070339

Likely pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

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

2 SubmittersRCV002306242 RCV003102288

NM_000069.3(CACNA1S):c.3726G>T (p.Arg1242Ser)

SNV
Germline

Chr1:201053528

Likely pathogenic

Hypokalemic periodic paralysis, type 1

No Assertion Criteria Provided

1 SubmittersRCV002306243

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

SNV
Germline

Chr7:143345604

Pathogenic

Hypokalemic periodic paralysis, type 1

No Assertion Criteria Provided

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

2 SubmittersRCV003076692 RCV004009327

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

2 SubmittersRCV003058564 RCV004009320

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

SNV
Germline

Chr1:201040625

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003078873

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

3 SubmittersRCV003077777 RCV003077778 RCV004009367

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

SNV
Germline

Chr1:201110162

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003092933

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

SNV
Germline

Chr1:201053539

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

1 SubmittersRCV002588291

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

SNV
Germline

Chr1:201040649

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002629601 RCV004009524

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

SNV
Germline

Chr1:201066909

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002647291 RCV004009491

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

SNV
Germline

Chr1:201061410

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

3 SubmittersRCV002628591 RCV003491260 RCV004009498

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

SNV
Germline

Chr1:201070321

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002638202 RCV004009519

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

SNV
Germline

Chr1:201040289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003117924 RCV004009573

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

SNV
Germline

Chr1:201059274

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003120083 RCV004009585

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

SNV
Germline

Chr1:201047173

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002579832 RCV004007486

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

1 SubmittersRCV002613554

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

SNV
Germline

Chr1:201083273

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002642837 RCV003340530

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

SNV
Germline

Chr1:201089368

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002727016 RCV004007566

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

1 SubmittersRCV002805994

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

SNV
Germline

Chr1:201083290

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

3 SubmittersRCV002780742 RCV003481333 RCV004007600

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

SNV
Germline

Chr1:201089364

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV002806462

NM_000069.3(CACNA1S):c.3057G>C (p.Leu1019=)

SNV
Germline

Chr1:201061465

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002847864 RCV004007644

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

SNV
Germline

Chr1:201043479

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002886044 RCV004066004

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

SNV
Germline

Chr1:201075554

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002882236 RCV003409948 RCV004007657

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

SNV
Germline

Chr1:201085564

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Single Submitter

1 SubmittersRCV002894973

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

SNV
Germline

Chr1:201089404

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002952962 RCV004007712

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

2 SubmittersRCV003057834 RCV004009288

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

SNV
Germline

Chr1:201065837

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003057506

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

SNV
Germline

Chr1:201112308

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

3 SubmittersRCV003779707 RCV003217186 RCV004009670

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

SNV
Germline

Chr1:201077040

Likely pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003314509

NM_000069.3(CACNA1S):c.3256-13G>T

SNV
Germline

Chr1:201060829

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003317957 RCV003777296

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

SNV
Germline

Chr1:201066275

Pathogenic

Hypokalemic periodic paralysis, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003320006

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

SNV
Germline

Chr1:201040641

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003399971 RCV003778212

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

1 SubmittersRCV003782120

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003796043 RCV003988149 RCV004006019

NM_000069.3(CACNA1S):c.1728G>A (p.Leu576=)

SNV
Germline

Chr1:201077019

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003788780 RCV004005962

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003789322 RCV004005977

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

SNV
Germline

Chr1:201048607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

Criteria Provided
Single Submitter

1 SubmittersRCV003787594

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

1 SubmittersRCV003787650

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

SNV
Germline

Chr1:201053574

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003786130 RCV004005947

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

SNV
Germline

Chr1:201061950

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV003805655

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

SNV
Germline

Chr1:201075493

Likely pathogenic

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

Criteria Provided
Single Submitter

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

Criteria Provided
Single Submitter

1 SubmittersRCV003817944

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

2 SubmittersRCV003813218 RCV004006081

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

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

1 SubmittersRCV003810338