ClinVar for PubMed (Select 28012042) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247819	NC_000001.10:g.(?_201041873)_(201045757_?)del	CACNA1S	Deletion	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 3247818	NC_000001.10:g.(?_201079272)_(201081467_?)del	CACNA1S	Deletion	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 3247817	NC_000001.10:g.(?_201063001)_(201066352_?)del	CACNA1S	Deletion	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 3072250	NM_000069.3(CACNA1S):c.5042_5048delTTTCCAG (p.Phe1681fs)	CACNA1S (F1681fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3071792	NM_000069.3(CACNA1S):c.2166del (p.Ile722fs)	CACNA1S (I722fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3070954	NM_000069.3(CACNA1S):c.2550+1G>C	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3070265	NM_000069.3(CACNA1S):c.404dup (p.Thr136fs)	CACNA1S (T136fs)	Duplication (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3070248	NM_000069.3(CACNA1S):c.2069_2070del (p.Leu690fs)	CACNA1S (L690fs)	Microsatellite (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3069708	NM_000069.3(CACNA1S):c.1018G>T (p.Glu340Ter)	CACNA1S (E340*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 2954241	NM_000069.3(CACNA1S):c.1271del (p.Lys424fs)	CACNA1S (K424fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2953220	NM_000069.3(CACNA1S):c.2228-1G>A	CACNA1S	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 2953131	NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)	CACNA1S (W1325*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2952810	NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)	CACNA1S (Q1540*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2942441	NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter)	CACNA1S (W1016*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2941619	NM_000069.3(CACNA1S):c.1948+2T>C	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 2939512	NM_000069.3(CACNA1S):c.1840del (p.Glu614fs)	CACNA1S (E614fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2935568	NM_000069.3(CACNA1S):c.574_575del (p.Ala192fs)	CACNA1S (A192fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2935242	NM_000069.3(CACNA1S):c.2965del (p.Glu989fs)	CACNA1S (E989fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2932133	NM_000069.3(CACNA1S):c.1949-8_1986del	CACNA1S	Deletion (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 2930948	NM_000069.3(CACNA1S):c.629dup (p.Tyr210Ter)	CACNA1S (Y210*)	Duplication (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2930858	NM_000069.3(CACNA1S):c.5226+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely pathogenic
Select item 2930292	NM_000069.3(CACNA1S):c.2491-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely pathogenic
Select item 2930236	NM_000069.3(CACNA1S):c.124A>T (p.Lys42Ter)	CACNA1S (K42*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2928843	NM_000069.3(CACNA1S):c.4797+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 2927398	NM_000069.3(CACNA1S):c.3018_3021del (p.Leu1007fs)	CACNA1S (L1007fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2924306	NM_000069.3(CACNA1S):c.4184del (p.Gly1395fs)	CACNA1S (G1395fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2922029	NM_000069.3(CACNA1S):c.3567del (p.Ile1189fs)	CACNA1S (I1189fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2443904	NM_000069.3(CACNA1S):c.2225C>A (p.Pro742Gln)	CACNA1S	Single nucleotide variant (missense variant)	Centronuclear myopathy	GPathogenic
Select item 2443903	NM_000069.3(CACNA1S):c.2371del (p.Leu791fs)	CACNA1S (L791fs)	Deletion (frameshift variant)	Congenital myopathy 18	GPathogenic
Select item 2443902	NM_000069.3(CACNA1S):c.825C>A (p.Phe275Leu)	CACNA1S	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 2443901	NM_000069.3(CACNA1S):c.4453C>T (p.Gln1485Ter)	CACNA1S	Single nucleotide variant (nonsense)	Congenital myopathy 18	GPathogenic
Select item 2443900	NM_000069.3(CACNA1S):c.1189_1190del (p.Ser397fs)	CACNA1S (S397fs)	Microsatellite (frameshift variant)	Centronuclear myopathy +2 more	GPathogenic
Select item 2428663	NM_000069.3(CACNA1S):c.2224C>T (p.Pro742Ser)	CACNA1S (P742S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2174972	NM_000069.3(CACNA1S):c.4172G>A (p.Trp1391Ter)	CACNA1S (W1391*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2168576	NM_000069.3(CACNA1S):c.258+2T>C	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 2162033	NM_000069.3(CACNA1S):c.5223C>A (p.Cys1741Ter)	CACNA1S (C1741*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2128281	NM_000069.3(CACNA1S):c.2853+1G>T	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 2061561	NM_000069.3(CACNA1S):c.4967del (p.Leu1656fs)	CACNA1S (L1656fs)	Deletion (frameshift variant)	Congenital myopathy 18 +3 more	GPathogenic
Select item 2038462	NM_000069.3(CACNA1S):c.3760C>T (p.Arg1254Ter)	CACNA1S (R1254*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2012122	NM_000069.3(CACNA1S):c.3472_3473del (p.Thr1158fs)	CACNA1S (T1158fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2008122	NC_000001.11:g.201044429_201044459del	CACNA1S	Deletion	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 1993906	NM_000069.3(CACNA1S):c.794G>A (p.Trp265Ter)	CACNA1S (W265*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1990993	NM_000069.3(CACNA1S):c.4819C>T (p.Gln1607Ter)	CACNA1S (Q1607*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1922123	NM_000069.3(CACNA1S):c.1366C>T (p.Gln456Ter)	CACNA1S (Q456*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1521923	NM_000069.3(CACNA1S):c.2063+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1502887	NM_000069.3(CACNA1S):c.1233-1G>A	CACNA1S	Single nucleotide variant (splice acceptor variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely pathogenic
Select item 1471704	NM_000069.3(CACNA1S):c.695-1G>A	CACNA1S	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 1459071	NM_000069.3(CACNA1S):c.85del (p.Arg29fs)	CACNA1S (R29fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1455433	NM_000069.3(CACNA1S):c.4210del (p.Ala1404fs)	CACNA1S (A1404fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1455320	NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs)	CACNA1S (N468fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GPathogenic/Likely pathogenic
Select item 1454476	NC_000001.10:g.(?_201012389)_(201013604_?)del	CACNA1S	Deletion	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 1453569	NM_000069.3(CACNA1S):c.2324_2330del (p.Glu775fs)	CACNA1S (E775fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1452817	NM_000069.3(CACNA1S):c.4834del (p.Leu1612fs)	CACNA1S (L1612fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1452647	NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)	CACNA1S (R412*)	Single nucleotide variant (nonsense)	Thyrotoxic periodic paralysis, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1451963	NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter)	CACNA1S (C1743*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1446481	NM_000069.3(CACNA1S):c.1087del (p.Leu363fs)	CACNA1S (L363fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 1431806	NM_000069.3(CACNA1S):c.4173G>A (p.Trp1391Ter)	CACNA1S (W1391*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 1408026	NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs)	CACNA1S (V1621fs)	Duplication (frameshift variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1356276	NM_000069.3(CACNA1S):c.78del (p.Arg26fs)	CACNA1S (R26fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 1324005	NM_000069.3(CACNA1S):c.3415-1G>A	CACNA1S	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 1320453	NM_000069.3(CACNA1S):c.4099C>G (p.Leu1367Val)	CACNA1S (L1367V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206372	NM_000069.3(CACNA1S):c.1246C>T (p.Gln416Ter)	CACNA1S (Q416*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 1074196	NM_000069.3(CACNA1S):c.1274del (p.Cys425fs)	CACNA1S (C425fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 1069371	NM_000069.3(CACNA1S):c.436del (p.Gln146fs)	CACNA1S (Q146fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 1067261	NM_000069.3(CACNA1S):c.2158-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 1066109	NM_000069.3(CACNA1S):c.4442-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely pathogenic
Select item 966202	NM_000069.3(CACNA1S):c.5227-2del	CACNA1S	Deletion (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 862482	NM_000069.3(CACNA1S):c.3025_3026del (p.Thr1009fs)	CACNA1S (T1009fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 856306	NM_000069.3(CACNA1S):c.3773G>A (p.Trp1258Ter)	CACNA1S (W1258*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 854887	NM_000069.3(CACNA1S):c.19C>T (p.Gln7Ter)	CACNA1S (Q7*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 848766	NM_000069.3(CACNA1S):c.4947del (p.Asp1650fs)	CACNA1S (D1650fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 806311	NM_000069.3(CACNA1S):c.4543+2T>C	CACNA1S	Single nucleotide variant (splice donor variant)	Hypokalemic periodic paralysis, type 1 +2 more	GLikely pathogenic
Select item 665842	NM_000069.3(CACNA1S):c.4871_4874del (p.Asn1624fs)	CACNA1S (N1624fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 665684	NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)	CACNA1S (W616*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 656431	NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)	CACNA1S (L938fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 653974	NM_000069.3(CACNA1S):c.2854-2A>C	CACNA1S	Single nucleotide variant (splice acceptor variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely pathogenic
Select item 653789	NM_000069.3(CACNA1S):c.3525+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 649853	NM_000069.3(CACNA1S):c.897C>G (p.Tyr299Ter)	CACNA1S (Y299*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 646905	NM_000069.3(CACNA1S):c.732del (p.Cys245fs)	CACNA1S (C245fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 643605	NM_000069.3(CACNA1S):c.2970G>A (p.Trp990Ter)	CACNA1S (W990*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 641633	NM_000069.3(CACNA1S):c.4025C>A (p.Ser1342Ter)	CACNA1S (S1342*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 639552	NM_000069.3(CACNA1S):c.4798-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 633684	NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	CACNA1S (Q1265H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 633682	NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)	CACNA1S (R757*)	Single nucleotide variant (nonsense)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GPathogenic/Likely pathogenic
Select item 633680	NM_000069.3(CACNA1S):c.4113+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GLikely pathogenic
Select item 633665	NM_000069.3(CACNA1S):c.3988del (p.Leu1330fs)	CACNA1S (L1330fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 620285	NM_000069.3(CACNA1S):c.900G>A (p.Trp300Ter)	CACNA1S (W300*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +2 more	GPathogenic/Likely pathogenic
Select item 567517	NM_000069.3(CACNA1S):c.1796del (p.Asn599fs)	CACNA1S (N599fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 567328	NM_000069.3(CACNA1S):c.4113+1G>C	CACNA1S	Single nucleotide variant (splice donor variant)	Hypokalemic periodic paralysis, type 1 +2 more	GLikely pathogenic
Select item 541072	NM_000069.3(CACNA1S):c.5049-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 541039	NM_000069.3(CACNA1S):c.564del (p.Ile189fs)	CACNA1S (I189fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 504167	NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)	CACNA1S (R168*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 473964	NM_000069.3(CACNA1S):c.1503C>A (p.Cys501Ter)	CACNA1S (C501*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 422581	NM_000069.3(CACNA1S):c.2707C>T (p.Arg903Ter)	CACNA1S (R903*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +2 more	GPathogenic/Likely pathogenic
Select item 402472	NM_000069.3(CACNA1S):c.1948+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 402469	NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)	CACNA1S (R1702*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 209137	NM_000069.3(CACNA1S):c.3526-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	Hypokalemic periodic paralysis, type 1 +1 more	GConflicting classifications of pathogenicity

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Items: 97