CACNA1S[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogen - ClinVar

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Items: 97

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14519631.	NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter) GRCh37: Chr1:201009500 GRCh38: Chr1:201040372	CACNA1S	C1743*	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 9662022.	NM_000069.3(CACNA1S):c.5227-2del GRCh37: Chr1:201009504 GRCh38: Chr1:201040376	CACNA1S		Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Oct 1, 2019)	criteria provided, single submitter
Select item 21620333.	NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter) GRCh37: Chr1:201009753 GRCh38: Chr1:201040625	CACNA1S	C1741*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Dec 21, 2021)	criteria provided, single submitter
Select item 20615614.	NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs) GRCh37: Chr1:201012490 GRCh38: Chr1:201043362	CACNA1S	L1656fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 8487665.	NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs) GRCh37: Chr1:201012510 GRCh38: Chr1:201043382	CACNA1S	D1650fs	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Feb 28, 2022)	criteria provided, single submitter
Select item 18048736.	NM_000069.3(CACNA1S):c.4931T>A (p.Leu1644Ter) GRCh37: Chr1:201012526 GRCh38: Chr1:201043398	CACNA1S	L1644*	Hypokalemic periodic paralysis	Likely pathogenic (Nov 22, 2022)	criteria provided, single submitter
Select item 6658427.	NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs) GRCh37: Chr1:201012583-201012586 GRCh38: Chr1:201043455-201043458	CACNA1S	N1624fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Dec 17, 2019)	criteria provided, single submitter
Select item 14528178.	NM_000069.3(CACNA1S):c.4834del (p.Leu1612fs) GRCh37: Chr1:201012623 GRCh38: Chr1:201043495	CACNA1S	L1612fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Oct 30, 2022)	criteria provided, single submitter
Select item 19909939.	NM_000069.3(CACNA1S):c.4819C>T (p.Gln1607Ter) GRCh37: Chr1:201012638 GRCh38: Chr1:201043510	CACNA1S	Q1607*	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 63955210.	NM_000069.3(CACNA1S):c.4798-2A>G GRCh37: Chr1:201012661 GRCh38: Chr1:201043533	CACNA1S		Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not provided, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 200812211.	NC_000001.10:g.201013554_201013584del GRCh37: Chr1:201013554-201013584 GRCh38: Chr1:201044426-201044456	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jun 18, 2022)	criteria provided, single submitter
Select item 80631112.	NM_000069.3(CACNA1S):c.4543+2T>C GRCh37: Chr1:201016651 GRCh38: Chr1:201047523	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, not provided	Likely pathogenic (Aug 19, 2020)	criteria provided, multiple submitters, no conflicts
Select item 106610913.	NM_000069.3(CACNA1S):c.4442-2A>G GRCh37: Chr1:201016756 GRCh38: Chr1:201047628	CACNA1S		Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 145543314.	NM_000069.3(CACNA1S):c.4210del (p.Ala1404fs) GRCh37: Chr1:201019548 GRCh38: Chr1:201050420	CACNA1S	A1404fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 143180615.	NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter) GRCh37: Chr1:201019585 GRCh38: Chr1:201050457	CACNA1S	W1391*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (May 13, 2021)	criteria provided, single submitter
Select item 217497216.	NM_000069.3(CACNA1S):c.4172G>A (p.Trp1391Ter) GRCh37: Chr1:201019586 GRCh38: Chr1:201050458	CACNA1S	W1391*	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Apr 9, 2022)	criteria provided, single submitter
Select item 63368017.	NM_000069.3(CACNA1S):c.4113+1G>A GRCh37: Chr1:201020111 GRCh38: Chr1:201050983	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56732818.	NM_000069.3(CACNA1S):c.4113+1G>C GRCh37: Chr1:201020111 GRCh38: Chr1:201050983	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52397219.	NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs) GRCh37: Chr1:201020187 GRCh38: Chr1:201051059	CACNA1S	E1348fs	not provided	Likely pathogenic (Jun 19, 2019)	criteria provided, single submitter
Select item 64163320.	NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter) GRCh37: Chr1:201020200 GRCh38: Chr1:201051072	CACNA1S	S1342*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Oct 31, 2018)	criteria provided, single submitter
Select item 63366521.	NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs) GRCh37: Chr1:201020237 GRCh38: Chr1:201051109	CACNA1S	L1330fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (May 17, 2022)	criteria provided, single submitter
Select item 169729722.	NM_000069.3(CACNA1S):c.3953+2C>G GRCh37: Chr1:201021683 GRCh38: Chr1:201052555	CACNA1S		Malignant hyperthermia, susceptibility to, 5	Likely pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 63368423.	NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) GRCh37: Chr1:201022587 GRCh38: Chr1:201053459	CACNA1S	Q1265H	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	Likely pathogenic (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85630624.	NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter) GRCh37: Chr1:201022609 GRCh38: Chr1:201053481	CACNA1S	W1258*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Aug 13, 2021)	criteria provided, single submitter
Select item 203846225.	NM_000069.3(CACNA1S):c.3760C>T (p.Arg1254Ter) GRCh37: Chr1:201022622 GRCh38: Chr1:201053494	CACNA1S	R1254*	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 172313626.	NM_000069.3(CACNA1S):c.3726G>T (p.Arg1242Ser) GRCh37: Chr1:201022656 GRCh38: Chr1:201053528	CACNA1S	R1242S	Hypokalemic periodic paralysis, type 1	Likely pathogenic (Apr 12, 2022)	no assertion criteria provided
Select item 85143627.	NM_000069.3(CACNA1S):c.3725G>A (p.Arg1242Lys) GRCh37: Chr1:201022657 GRCh38: Chr1:201053529	CACNA1S	R1242K	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 118074128.	NM_000069.3(CACNA1S):c.3724A>G (p.Arg1242Gly) GRCh37: Chr1:201022658 GRCh38: Chr1:201053530	CACNA1S	R1242G	Abnormality of the musculature	Pathogenic (Jul 10, 2021)	criteria provided, single submitter
Select item 1762329.	NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His) GRCh37: Chr1:201022666 GRCh38: Chr1:201053538	CACNA1S	R1239H	Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, not provided	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216643830.	NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys) GRCh37: Chr1:201022667 GRCh38: Chr1:201053539	CACNA1S	R1239C	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Likely pathogenic (Jul 27, 2022)	criteria provided, single submitter
Select item 1762431.	NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly) GRCh37: Chr1:201022667 GRCh38: Chr1:201053539	CACNA1S	R1239G	not provided, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132400432.	NM_000069.3(CACNA1S):c.3667-1G>A GRCh37: Chr1:201022716 GRCh38: Chr1:201053588	CACNA1S		Hypokalemic periodic paralysis, type 1	Likely pathogenic (Nov 18, 2020)	criteria provided, single submitter
Select item 20913733.	NM_000069.3(CACNA1S):c.3526-2A>G GRCh37: Chr1:201027621 GRCh38: Chr1:201058493	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic/Likely pathogenic (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65378934.	NM_000069.3(CACNA1S):c.3525+1G>A GRCh37: Chr1:201028316 GRCh38: Chr1:201059188	CACNA1S		Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Jun 18, 2021)	criteria provided, single submitter
Select item 201212235.	NM_000069.3(CACNA1S):c.3472_3473del (p.Thr1158fs) GRCh37: Chr1:201028369-201028370 GRCh38: Chr1:201059241-201059242	CACNA1S	T1158fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jun 30, 2022)	criteria provided, single submitter
Select item 132400536.	NM_000069.3(CACNA1S):c.3415-1G>A GRCh37: Chr1:201028428 GRCh38: Chr1:201059300	CACNA1S		Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Oct 16, 2022)	criteria provided, single submitter
Select item 169454037.	NM_000069.3(CACNA1S):c.3335G>A (p.Trp1112Ter) GRCh37: Chr1:201029865 GRCh38: Chr1:201060737	CACNA1S	W1112*	not provided	Likely pathogenic (May 1, 2022)	criteria provided, single submitter
Select item 15628838.	NM_000069.3(CACNA1S):c.3256C>A (p.Arg1086Ser) GRCh37: Chr1:201029944 GRCh38: Chr1:201060816	CACNA1S	R1086S	not provided	Likely pathogenic (Sep 1, 2020)	criteria provided, single submitter
Select item 86248239.	NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs) GRCh37: Chr1:201031099-201031100 GRCh38: Chr1:201061971-201061972	CACNA1S	T1009fs	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Jul 1, 2019)	criteria provided, single submitter
Select item 64360540.	NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter) GRCh37: Chr1:201031155 GRCh38: Chr1:201062027	CACNA1S	W990*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 170111941.	NM_000069.3(CACNA1S):c.2875del (p.Asp959fs) GRCh37: Chr1:201031621 GRCh38: Chr1:201062493	CACNA1S	D959fs	not provided	Likely pathogenic (Jul 1, 2022)	criteria provided, single submitter
Select item 65397442.	NM_000069.3(CACNA1S):c.2854-2A>C GRCh37: Chr1:201031644 GRCh38: Chr1:201062516	CACNA1S		Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Dec 16, 2020)	criteria provided, single submitter
Select item 212828143.	NM_000069.3(CACNA1S):c.2853+1G>T GRCh37: Chr1:201034965 GRCh38: Chr1:201065837	CACNA1S		Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Apr 20, 2022)	criteria provided, single submitter
Select item 65643144.	NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) GRCh37: Chr1:201035007 GRCh38: Chr1:201065879	CACNA1S	L938fs	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	Pathogenic/Likely pathogenic (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 42258145.	NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter) GRCh37: Chr1:201035395 GRCh38: Chr1:201066267	CACNA1S	R903*	not provided, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic/Likely pathogenic (Jan 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 172313546.	NM_000069.3(CACNA1S):c.2700G>C (p.Arg900Ser) GRCh37: Chr1:201035402 GRCh38: Chr1:201066274	CACNA1S	R900S	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 150394547.	NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser) GRCh37: Chr1:201035402 GRCh38: Chr1:201066274	CACNA1S	R900S	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Likely pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 101254848.	NM_000069.3(CACNA1S):c.2691G>C (p.Arg897Ser) GRCh37: Chr1:201035411 GRCh38: Chr1:201066283	CACNA1S	R897S	not provided	Pathogenic (Feb 1, 2021)	criteria provided, single submitter
Select item 47397949.	NM_000069.3(CACNA1S):c.2690G>A (p.Arg897Lys) GRCh37: Chr1:201035412 GRCh38: Chr1:201066284	CACNA1S	R897K	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jan 19, 2022)	criteria provided, single submitter
Select item 1763150.	NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu) GRCh37: Chr1:201036045 GRCh38: Chr1:201066917	CACNA1S	V876E	Hypokalemic periodic paralysis, type 1	Likely pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 145356951.	NM_000069.3(CACNA1S):c.2324_2330del (p.Glu775fs) GRCh37: Chr1:201039430-201039436 GRCh38: Chr1:201070302-201070308	CACNA1S	E775fs	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Nov 13, 2021)	criteria provided, single submitter
Select item 170967952.	NM_000069.3(CACNA1S):c.2293C>T (p.Gln765Ter) GRCh37: Chr1:201039467 GRCh38: Chr1:201070339	CACNA1S	Q765*	Hypokalemic periodic paralysis, type 1	Likely pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 63368253.	NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) GRCh37: Chr1:201039491 GRCh38: Chr1:201070363	CACNA1S	R757*	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	Pathogenic/Likely pathogenic (Feb 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 242866354.	NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser) GRCh37: Chr1:201041886 GRCh38: Chr1:201072758	CACNA1S	P742S	not provided	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 106726155.	NM_000069.3(CACNA1S):c.2158-2A>G GRCh37: Chr1:201041954 GRCh38: Chr1:201072826	CACNA1S		Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 152192356.	NM_000069.3(CACNA1S):c.2063+1G>A GRCh37: Chr1:201043633 GRCh38: Chr1:201074505	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 66568457.	NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) GRCh37: Chr1:201044724 GRCh38: Chr1:201075596	CACNA1S	W616*	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	Pathogenic/Likely pathogenic (Feb 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56751758.	NM_000069.3(CACNA1S):c.1796del (p.Asn599fs) GRCh37: Chr1:201046079 GRCh38: Chr1:201076951	CACNA1S	N599fs	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Apr 8, 2018)	criteria provided, single submitter
Select item 80160559.	NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile) GRCh37: Chr1:201046141 GRCh38: Chr1:201077013	CACNA1S	M578I	Hypokalemic periodic paralysis, type 1	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 47396560.	NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) GRCh37: Chr1:201047043 GRCh38: Chr1:201077915	CACNA1S	R528L	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, not provided	Likely pathogenic (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1762561.	NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His) GRCh37: Chr1:201047043 GRCh38: Chr1:201077915	CACNA1S	R528H	not provided, 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	Pathogenic (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84908562.	NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys) GRCh37: Chr1:201047044 GRCh38: Chr1:201077916	CACNA1S	R528C	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not provided	Likely pathogenic (Feb 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2103463.	NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly) GRCh37: Chr1:201047044 GRCh38: Chr1:201077916	CACNA1S	R528G	Hypokalemic periodic paralysis, type 1	Pathogenic (Apr 12, 2022)	no assertion criteria provided
Select item 47396464.	NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter) GRCh37: Chr1:201047123 GRCh38: Chr1:201077995	CACNA1S	C501*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Mar 21, 2018)	criteria provided, single submitter
Select item 145532065.	NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) GRCh37: Chr1:201047212-201047225 GRCh38: Chr1:201078084-201078097	CACNA1S	N468fs	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	Pathogenic/Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192212366.	NM_000069.3(CACNA1S):c.1366C>T (p.Gln456Ter) GRCh37: Chr1:201052317 GRCh38: Chr1:201083189	CACNA1S	Q456*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 107419667.	NM_000069.3(CACNA1S):c.1274del (p.Cys425fs) GRCh37: Chr1:201052409 GRCh38: Chr1:201083281	CACNA1S	C425fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 62032068.	NM_000069.3(CACNA1S):c.1269G>A (p.Trp423Ter) GRCh37: Chr1:201052414 GRCh38: Chr1:201083286	CACNA1S	W423*	not provided	Likely pathogenic (Aug 17, 2018)	criteria provided, single submitter
Select item 170850669.	NM_000069.3(CACNA1S):c.1252_1253del (p.Asn418fs) GRCh37: Chr1:201052430-201052431 GRCh38: Chr1:201083302-201083303	CACNA1S	N418fs	Malignant hyperthermia, susceptibility to, 5	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 145264770.	NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) GRCh37: Chr1:201052449 GRCh38: Chr1:201083321	CACNA1S	R412*	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	Pathogenic/Likely pathogenic (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150288771.	NM_000069.3(CACNA1S):c.1233-1G>A GRCh37: Chr1:201052451 GRCh38: Chr1:201083323	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Likely pathogenic (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144648172.	NM_000069.3(CACNA1S):c.1087del (p.Leu363fs) GRCh37: Chr1:201054627 GRCh38: Chr1:201085499	CACNA1S	L363fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jul 26, 2021)	criteria provided, single submitter
Select item 62028573.	NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter) GRCh37: Chr1:201058386 GRCh38: Chr1:201089258	CACNA1S	W300*	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not provided	Pathogenic/Likely pathogenic (Sep 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64985374.	NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter) GRCh37: Chr1:201058389 GRCh38: Chr1:201089261	CACNA1S	Y299*	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Aug 1, 2018)	criteria provided, single submitter
Select item 199390675.	NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter) GRCh37: Chr1:201058492 GRCh38: Chr1:201089364	CACNA1S	W265*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 64690576.	NM_000069.3(CACNA1S):c.732del (p.Cys245fs) GRCh37: Chr1:201058554 GRCh38: Chr1:201089426	CACNA1S	C245fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 147170477.	NM_000069.3(CACNA1S):c.695-1G>A GRCh37: Chr1:201058592 GRCh38: Chr1:201089464	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Likely pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 54103978.	NM_000069.3(CACNA1S):c.564del (p.Ile189fs) GRCh37: Chr1:201060898 GRCh38: Chr1:201091770	CACNA1S	I189fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jul 11, 2022)	criteria provided, single submitter
Select item 50416779.	NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) GRCh37: Chr1:201061139 GRCh38: Chr1:201092011	CACNA1S	R168*	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, not provided	Pathogenic/Likely pathogenic (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106937180.	NM_000069.3(CACNA1S):c.436del (p.Gln146fs) GRCh37: Chr1:201061205 GRCh38: Chr1:201092077	CACNA1S	Q146fs	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Mar 22, 2018)	criteria provided, single submitter
Select item 118063881.	NM_000069.3(CACNA1S):c.324C>G (p.Tyr108Ter) GRCh37: Chr1:201063084 GRCh38: Chr1:201093956	CACNA1S	Y108*	Abnormality of the musculature	Likely pathogenic (Jul 10, 2021)	criteria provided, single submitter
Select item 216857682.	NM_000069.3(CACNA1S):c.258+2T>C GRCh37: Chr1:201079290 GRCh38: Chr1:201110162	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 170895583.	NM_000069.3(CACNA1S):c.182del (p.Ile61fs) GRCh37: Chr1:201079368 GRCh38: Chr1:201110240	CACNA1S	I61fs	Hypokalemic periodic paralysis, type 1	Likely pathogenic (Nov 16, 2021)	criteria provided, single submitter
Select item 145907184.	NM_000069.3(CACNA1S):c.85del (p.Arg29fs) GRCh37: Chr1:201081383 GRCh38: Chr1:201112255	CACNA1S	R29fs	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Pathogenic (Jun 8, 2021)	criteria provided, single submitter
Select item 135627685.	NM_000069.3(CACNA1S):c.78del (p.Arg26fs) GRCh37: Chr1:201081390 GRCh38: Chr1:201112262	CACNA1S	R26fs	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Nov 15, 2020)	criteria provided, single submitter
Select item 85488786.	NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter) GRCh37: Chr1:201081449 GRCh38: Chr1:201112321	CACNA1S	Q7*	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jan 30, 2020)	criteria provided, single submitter
Select item 145447687.	NC_000001.10:g.(?_201012389)_(201013604_?)del GRCh37: Chr1:201012389-201013604	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 244390888.	CACNA1S, ARG789CYS	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244390789.	CACNA1S, MET222LYS	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244390690.	CACNA1S, LEU1367VAL	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244390591.	CACNA1S, PRO742SER	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244390492.	CACNA1S, PRO742GLN	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244390393.	CACNA1S, 1-BP DEL, 2371C	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244390294.	CACNA1S, PHE275LEU	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244390195.	CACNA1S, GLN1485TER	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244390096.	CACNA1S, 2-BP DEL, NT1189	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided
Select item 244389997.	CACNA1S, 1-BP DEL, 4967T	CACNA1S		Myopathy, congenital, due to dihydropyridine receptor defect	Pathogenic (Mar 10, 2023)	no assertion criteria provided

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Items: 97