ClinVar for MedGen (Select 413199) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16718151.	NM_000069.3(CACNA1S):c.331T>C (p.Leu111=) GRCh37: Chr1:201063077 GRCh38: Chr1:201093949	CACNA1S		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	Likely benign (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16706572.	NM_000069.3(CACNA1S):c.1151-18T>C GRCh37: Chr1:201054177 GRCh38: Chr1:201085049	CACNA1S		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	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16286983.	NM_000069.3(CACNA1S):c.2491-20C>T GRCh37: Chr1:201038344 GRCh38: Chr1:201069216	CACNA1S		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	Likely benign (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16245714.	NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=) GRCh37: Chr1:201052336 GRCh38: Chr1:201083208	CACNA1S		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	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16202515.	NM_000069.3(CACNA1S):c.2854-15T>G GRCh37: Chr1:201031657 GRCh38: Chr1:201062529	CACNA1S		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	Likely benign (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15958226.	NM_000069.3(CACNA1S):c.541+18T>A GRCh37: Chr1:201061082 GRCh38: Chr1:201091954	CACNA1S		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	Likely benign (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15913727.	NM_000069.3(CACNA1S):c.542-9C>T GRCh37: Chr1:201060929 GRCh38: Chr1:201091801	CACNA1S		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	Likely benign (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15893218.	NM_000069.3(CACNA1S):c.4543+15G>A GRCh37: Chr1:201016638 GRCh38: Chr1:201047510	CACNA1S		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 benign (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15879309.	NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=) GRCh37: Chr1:201023663 GRCh38: Chr1:201054535	CACNA1S		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 benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158674110.	NM_000069.3(CACNA1S):c.3610-17G>A GRCh37: Chr1:201023706 GRCh38: Chr1:201054578	CACNA1S		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 benign (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158424411.	NM_000069.3(CACNA1S):c.4338+13G>T GRCh37: Chr1:201018118 GRCh38: Chr1:201048990	CACNA1S		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	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155900712.	NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=) GRCh37: Chr1:201021695 GRCh38: Chr1:201052567	CACNA1S		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 benign (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154375713.	NM_000069.3(CACNA1S):c.3796-19G>A GRCh37: Chr1:201022421 GRCh38: Chr1:201053293	CACNA1S		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 benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154051614.	NM_000069.3(CACNA1S):c.900+17G>A GRCh37: Chr1:201058369 GRCh38: Chr1:201089241	CACNA1S		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 benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153927115.	NM_000069.3(CACNA1S):c.259-14G>A GRCh37: Chr1:201063163 GRCh38: Chr1:201094035	CACNA1S		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 benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153594916.	NM_000069.3(CACNA1S):c.3610-18C>T GRCh37: Chr1:201023707 GRCh38: Chr1:201054579	CACNA1S		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 benign (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150700117.	NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser) GRCh37: Chr1:201009430 GRCh38: Chr1:201040302	CACNA1S, LOC101929305	P1767S	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	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149979618.	NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu) GRCh37: Chr1:201054159 GRCh38: Chr1:201085031	CACNA1S	G384E	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	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149645219.	NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn) GRCh37: Chr1:201009006 GRCh38: Chr1:201039878	CACNA1S, LOC101929305	D1859N	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	Conflicting interpretations of pathogenicity (Jul 11, 2022)	criteria provided, conflicting interpretations
Select item 149053320.	NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln) GRCh37: Chr1:201046097 GRCh38: Chr1:201076969	CACNA1S	R593Q	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	Conflicting interpretations of pathogenicity (Sep 28, 2022)	criteria provided, conflicting interpretations
Select item 148613521.	NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met) GRCh37: Chr1:201058579 GRCh38: Chr1:201089451	CACNA1S	T236M	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	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 147840922.	NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu) GRCh37: Chr1:201044743 GRCh38: Chr1:201075615	CACNA1S	V610L	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	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145532023.	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 145264724.	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 144393825.	NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp) GRCh37: Chr1:201047096 GRCh38: Chr1:201077968	CACNA1S	E510D	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	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 143502026.	NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln) GRCh37: Chr1:201013457 GRCh38: Chr1:201044329	CACNA1S	R1599Q	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	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143141627.	NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe) GRCh37: Chr1:201054591 GRCh38: Chr1:201085463	CACNA1S	V375F	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	Uncertain significance (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143027828.	NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile) GRCh37: Chr1:201047196 GRCh38: Chr1:201078068	CACNA1S	T477I	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	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142170329.	NM_000069.3(CACNA1S):c.2853+18C>T GRCh37: Chr1:201034948 GRCh38: Chr1:201065820	CACNA1S		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	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 141924730.	NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg) GRCh37: Chr1:201010665 GRCh38: Chr1:201041537	CACNA1S, LOC101929305	G1701R	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	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140892831.	NM_000069.3(CACNA1S):c.3053+19C>G GRCh37: Chr1:201031053 GRCh38: Chr1:201061925	CACNA1S		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	Uncertain significance (Oct 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140216332.	NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu) GRCh37: Chr1:201046094 GRCh38: Chr1:201076966	CACNA1S	R594L	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	Conflicting interpretations of pathogenicity (Jun 28, 2022)	criteria provided, conflicting interpretations
Select item 139974733.	NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln) GRCh37: Chr1:201022636 GRCh38: Chr1:201053508	CACNA1S	R1249Q	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, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 139712634.	NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) GRCh37: Chr1:201054106 GRCh38: Chr1:201084978	CACNA1S	A402S	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, not provided, Thyrotoxic periodic paralysis, susceptibility to, 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Conflicting interpretations of pathogenicity (Jul 5, 2023)	criteria provided, conflicting interpretations
Select item 138838735.	NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys) GRCh37: Chr1:201063068 GRCh38: Chr1:201093940	CACNA1S	Q114K	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	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138268336.	NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser) GRCh37: Chr1:201058480 GRCh38: Chr1:201089352	CACNA1S	N269S	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	Uncertain significance (Feb 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137189537.	NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe) GRCh37: Chr1:201043740 GRCh38: Chr1:201074612	CACNA1S	L653F	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	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137047138.	NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val) GRCh37: Chr1:201035046 GRCh38: Chr1:201065918	CACNA1S	I925V	Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Inborn genetic diseases, Thyrotoxic periodic paralysis, susceptibility to, 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Conflicting interpretations of pathogenicity (Jun 27, 2022)	criteria provided, conflicting interpretations
Select item 136569339.	NM_000069.3(CACNA1S):c.3953+5G>A GRCh37: Chr1:201021680 GRCh38: Chr1:201052552	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, not provided, Thyrotoxic periodic paralysis, susceptibility to, 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Uncertain significance (Feb 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 136465040.	NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile) GRCh37: Chr1:201016671 GRCh38: Chr1:201047543	CACNA1S	V1509I	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	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 134277541.	NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His) GRCh37: Chr1:201017736 GRCh38: Chr1:201048608	CACNA1S	R1472H	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, not provided	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 131867042.	NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr) GRCh37: Chr1:201047074 GRCh38: Chr1:201077946	CACNA1S	A518T	Thyrotoxic periodic paralysis, susceptibility to, 1, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, not provided	Uncertain significance (Sep 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131696843.	NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) GRCh37: Chr1:201030583 GRCh38: Chr1:201061455	CACNA1S	A1023T	Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1, Thyrotoxic periodic paralysis, susceptibility to, 1, not provided, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Conflicting interpretations of pathogenicity (Aug 28, 2023)	criteria provided, conflicting interpretations
Select item 116746344.	NM_000069.3(CACNA1S):c.2922G>A (p.Val974=) GRCh37: Chr1:201031203 GRCh38: Chr1:201062075	CACNA1S		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	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115721745.	NM_000069.3(CACNA1S):c.4113+7_4113+8inv GRCh37: Chr1:201020104-201020105 GRCh38: Chr1:201050976-201050977	CACNA1S		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	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115104246.	NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=) GRCh37: Chr1:201035053 GRCh38: Chr1:201065925	CACNA1S		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 benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114675447.	NM_000069.3(CACNA1S):c.2854-6C>T GRCh37: Chr1:201031648 GRCh38: Chr1:201062520	CACNA1S		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	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109967748.	NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=) GRCh37: Chr1:201009187 GRCh38: Chr1:201040059	CACNA1S, LOC101929305		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	Likely benign (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109167249.	NM_000069.3(CACNA1S):c.4242-10C>G GRCh37: Chr1:201018237 GRCh38: Chr1:201049109	CACNA1S		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 benign (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108706450.	NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=) GRCh37: Chr1:201052381 GRCh38: Chr1:201083253	CACNA1S		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 benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108676251.	NM_000069.3(CACNA1S):c.2658-10C>T GRCh37: Chr1:201035454 GRCh38: Chr1:201066326	CACNA1S		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 benign (Aug 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106058552.	NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln) GRCh37: Chr1:201039490 GRCh38: Chr1:201070362	CACNA1S	R757Q	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	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 105863753.	NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser) GRCh37: Chr1:201058451 GRCh38: Chr1:201089323	CACNA1S	G279S	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, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 104663354.	NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met) GRCh37: Chr1:201079386 GRCh38: Chr1:201110258	CACNA1S	T55M	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	Conflicting interpretations of pathogenicity (Nov 18, 2022)	criteria provided, conflicting interpretations
Select item 104305355.	NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu) GRCh37: Chr1:201020200 GRCh38: Chr1:201051072	CACNA1S	S1342L	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, not provided	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103982256.	NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu) GRCh37: Chr1:201036025 GRCh38: Chr1:201066897	CACNA1S	M883L	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	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103554357.	NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu) GRCh37: Chr1:201039487 GRCh38: Chr1:201070359	CACNA1S	P758L	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	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102611358.	NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys) GRCh37: Chr1:201017737 GRCh38: Chr1:201048609	CACNA1S	R1472C	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	Conflicting interpretations of pathogenicity (Jul 5, 2022)	criteria provided, conflicting interpretations
Select item 102419059.	NM_000069.3(CACNA1S):c.258+6A>G GRCh37: Chr1:201079286 GRCh38: Chr1:201110158	CACNA1S		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	Uncertain significance (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102371760.	NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val) GRCh37: Chr1:201036042 GRCh38: Chr1:201066914	CACNA1S	A877V	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, Malignant hyperthermia, susceptibility to, 5	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 102272861.	NM_000069.3(CACNA1S):c.2853+6C>T GRCh37: Chr1:201034960 GRCh38: Chr1:201065832	CACNA1S		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	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102242962.	NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg) GRCh37: Chr1:201052406 GRCh38: Chr1:201083278	CACNA1S	H426R	Hypokalemic periodic paralysis, type 1, Thyrotoxic periodic paralysis, susceptibility to, 1, Malignant hyperthermia, susceptibility to, 5, not provided, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Uncertain significance (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102163463.	NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn) GRCh37: Chr1:201021765 GRCh38: Chr1:201052637	CACNA1S	K1291N	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	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101953964.	NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn) GRCh37: Chr1:201030513 GRCh38: Chr1:201061385	CACNA1S	I1046N	not provided, 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	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101814965.	NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln) GRCh37: Chr1:201009200 GRCh38: Chr1:201040072	CACNA1S, LOC101929305	R1794Q	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	Conflicting interpretations of pathogenicity (Sep 3, 2022)	criteria provided, conflicting interpretations
Select item 101254766.	NM_000069.3(CACNA1S):c.4242-4G>A GRCh37: Chr1:201018231 GRCh38: Chr1:201049103	CACNA1S		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	Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101141667.	NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val) GRCh37: Chr1:201028388 GRCh38: Chr1:201059260	CACNA1S	I1152V	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	Conflicting interpretations of pathogenicity (Sep 23, 2022)	criteria provided, conflicting interpretations
Select item 101119568.	NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys) GRCh37: Chr1:201039515 GRCh38: Chr1:201070387	CACNA1S	E749K	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	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100990569.	NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met) GRCh37: Chr1:201036117 GRCh38: Chr1:201066989	CACNA1S	T852M	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	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 100893170.	NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr) GRCh37: Chr1:201034997 GRCh38: Chr1:201065869	CACNA1S	M941T	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	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100001071.	NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val) GRCh37: Chr1:201041946 GRCh38: Chr1:201072818	CACNA1S	I722V	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	Uncertain significance (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98351572.	NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp) GRCh37: Chr1:201022637 GRCh38: Chr1:201053509	CACNA1S	R1249W	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, Hypokalemic periodic paralysis, type 1	Uncertain significance (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97629373.	NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met) GRCh37: Chr1:201035070 GRCh38: Chr1:201065942	CACNA1S	V917M	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, Hypokalemic periodic paralysis, type 1	Uncertain significance (Aug 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 97204574.	NM_000069.3(CACNA1S):c.700G>A (p.Val234Met) GRCh37: Chr1:201058586 GRCh38: Chr1:201089458	CACNA1S	V234M	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	Conflicting interpretations of pathogenicity (Oct 10, 2022)	criteria provided, conflicting interpretations
Select item 97101175.	NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp) GRCh37: Chr1:201046215 GRCh38: Chr1:201077087	CACNA1S	N554D	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	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96919476.	NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln) GRCh37: Chr1:201021733 GRCh38: Chr1:201052605	CACNA1S	R1302Q	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	Uncertain significance (Jul 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96558577.	NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met) GRCh37: Chr1:201047119 GRCh38: Chr1:201077991	CACNA1S	V503M	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	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95785078.	NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser) GRCh37: Chr1:201047107 GRCh38: Chr1:201077979	CACNA1S	G507S	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	Conflicting interpretations of pathogenicity (Jun 28, 2022)	criteria provided, conflicting interpretations
Select item 95583779.	NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val) GRCh37: Chr1:201036025 GRCh38: Chr1:201066897	CACNA1S	M883V	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	Conflicting interpretations of pathogenicity (Jul 19, 2022)	criteria provided, conflicting interpretations
Select item 94996680.	NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu) GRCh37: Chr1:201081454 GRCh38: Chr1:201112326	CACNA1S	S5L	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	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94205681.	NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly) GRCh37: Chr1:201029866 GRCh38: Chr1:201060738	CACNA1S	W1112G	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	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 93808482.	NM_000069.3(CACNA1S):c.1884C>T (p.Gly628=) GRCh37: Chr1:201044687 GRCh38: Chr1:201075559	CACNA1S		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	Conflicting interpretations of pathogenicity (Aug 27, 2022)	criteria provided, conflicting interpretations
Select item 93778883.	NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys) GRCh37: Chr1:201013548 GRCh38: Chr1:201044420	CACNA1S	E1569K	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	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 93741384.	NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala) GRCh37: Chr1:201009492 GRCh38: Chr1:201040364	CACNA1S, LOC101929305	V1746A	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, not provided	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93593985.	NM_000069.3(CACNA1S):c.531G>A (p.Ser177=) GRCh37: Chr1:201061110 GRCh38: Chr1:201091982	CACNA1S		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	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 93574286.	NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly) GRCh37: Chr1:201029944 GRCh38: Chr1:201060816	CACNA1S	R1086G	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	Uncertain significance (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87679687.	NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) GRCh37: Chr1:201058520 GRCh38: Chr1:201089392	CACNA1S	I256V	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, not specified, Hypokalemic periodic paralysis, type 1	Conflicting interpretations of pathogenicity (Jun 30, 2023)	criteria provided, conflicting interpretations
Select item 87585988.	NM_000069.3(CACNA1S):c.225G>A (p.Pro75=) GRCh37: Chr1:201079325 GRCh38: Chr1:201110197	CACNA1S		Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Thyrotoxic periodic paralysis, susceptibility to, 1, Hypokalemic periodic paralysis, type 1, not provided, Malignant hyperthermia, susceptibility to, 5, Hypokalemic periodic paralysis, type 1	Benign/Likely benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87561689.	NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala) GRCh37: Chr1:201016695 GRCh38: Chr1:201047567	CACNA1S	T1501A	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, Hypokalemic periodic paralysis, type 1	Conflicting interpretations of pathogenicity (Aug 30, 2022)	criteria provided, conflicting interpretations
Select item 87561590.	NM_000069.3(CACNA1S):c.4669-11G>A GRCh37: Chr1:201013595 GRCh38: Chr1:201044467	CACNA1S		Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5, Thyrotoxic periodic paralysis, susceptibility to, 1, not provided, Hypokalemic periodic paralysis, type 1, Malignant hyperthermia, susceptibility to, 5	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86397791.	NM_000069.3(CACNA1S):c.784C>T (p.Arg262Trp) GRCh37: Chr1:201058502 GRCh38: Chr1:201089374	CACNA1S	R262W	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	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86362992.	NM_000069.3(CACNA1S):c.2794G>A (p.Val932Met) GRCh37: Chr1:201035025 GRCh38: Chr1:201065897	CACNA1S	V932M	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	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 86208493.	NM_000069.3(CACNA1S):c.1919A>G (p.Tyr640Cys) GRCh37: Chr1:201044652 GRCh38: Chr1:201075524	CACNA1S	Y640C	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	Uncertain significance (Feb 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86039794.	NM_000069.3(CACNA1S):c.1345A>G (p.Ile449Val) GRCh37: Chr1:201052338 GRCh38: Chr1:201083210	CACNA1S	I449V	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	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 85968295.	NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn) GRCh37: Chr1:201016261 GRCh38: Chr1:201047133	CACNA1S	K1550N	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	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85607496.	NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val) GRCh37: Chr1:201030484 GRCh38: Chr1:201061356	CACNA1S	M1056V	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	Conflicting interpretations of pathogenicity (Aug 10, 2022)	criteria provided, conflicting interpretations
Select item 85265397.	NM_000069.3(CACNA1S):c.409G>A (p.Val137Met) GRCh37: Chr1:201061232 GRCh38: Chr1:201092104	CACNA1S	V137M	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	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 85258798.	NM_000069.3(CACNA1S):c.336C>G (p.Phe112Leu) GRCh37: Chr1:201063072 GRCh38: Chr1:201093944	CACNA1S	F112L	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	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85168899.	NM_000069.3(CACNA1S):c.304G>A (p.Ala102Thr) GRCh37: Chr1:201063104 GRCh38: Chr1:201093976	CACNA1S	A102T	Inborn genetic diseases, 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	Conflicting interpretations of pathogenicity (Jul 11, 2022)	criteria provided, conflicting interpretations
Select item 850619100.	NM_000069.3(CACNA1S):c.162G>T (p.Glu54Asp) GRCh37: Chr1:201079388 GRCh38: Chr1:201110260	CACNA1S	E54D	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	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts

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