C1866077[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 392278	NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly)	CACNA1S (D1859G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 1496452	NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)	CACNA1S (D1859N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 254850	NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	CACNA1S (S1857N)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 392277	NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly)	CACNA1S (E1821G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 1099677	NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1018149	NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)	CACNA1S (R1794Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 254846	NM_000069.3(CACNA1S):c.5371-19C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign
Select item 474003	NM_000069.3(CACNA1S):c.5370+10G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 698861	NM_000069.3(CACNA1S):c.5370+7C>T	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 846213	NM_000069.3(CACNA1S):c.5303A>G (p.His1768Arg)	CACNA1S (H1768R)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 1507001	NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)	CACNA1S (P1767S)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GConflicting classifications of pathogenicity
Select item 452887	NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val)	CACNA1S (M1750V)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 937413	NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala)	CACNA1S (V1746A)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 389563	NM_000069.3(CACNA1S):c.5227-20C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 837079	NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg)	CACNA1S (P1717R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 254845	NM_000069.3(CACNA1S):c.5135-7C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GLikely benign
Select item 643249	NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)	CACNA1S (V1710A)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 647313	NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)	CACNA1S (R1702P)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1419247	NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg)	CACNA1S (G1701R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 680385	NM_000069.3(CACNA1S):c.5048+8C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 294707	NM_000069.3(CACNA1S):c.5020A>C (p.Asn1674His)	CACNA1S (N1674H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 566697	NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr)	CACNA1S (N1662Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 541041	NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr)	CACNA1S (R1658Y)	Indel (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GUncertain significance
Select item 426437	NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)	CACNA1S (E1639V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 541033	NM_000069.3(CACNA1S):c.4861G>A (p.Val1621Ile)	CACNA1S (V1621I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 294711	NM_000069.3(CACNA1S):c.4818C>T (p.Gly1606=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1435020	NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln)	CACNA1S (R1599Q)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 652305	NM_000069.3(CACNA1S):c.4786G>A (p.Gly1596Arg)	CACNA1S (G1596R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 541073	NM_000069.3(CACNA1S):c.4718C>T (p.Thr1573Met)	CACNA1S (T1573M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 937788	NM_000069.3(CACNA1S):c.4705G>A (p.Glu1569Lys)	CACNA1S (E1569K)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 875615	NM_000069.3(CACNA1S):c.4669-11G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 859682	NM_000069.3(CACNA1S):c.4650G>T (p.Lys1550Asn)	CACNA1S (K1550N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 844985	NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu)	CACNA1S (F1523L)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 1589321	NM_000069.3(CACNA1S):c.4543+15G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 446962	NM_000069.3(CACNA1S):c.4543+4G>A	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 1364650	NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile)	CACNA1S (V1509I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 422368	NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)	CACNA1S (Q1508E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 695956	NM_000069.3(CACNA1S):c.4521C>T (p.Asp1507=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 875616	NM_000069.3(CACNA1S):c.4501A>G (p.Thr1501Ala)	CACNA1S (T1501A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 566816	NM_000069.3(CACNA1S):c.4490T>C (p.Ile1497Thr)	CACNA1S (I1497T)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 294717	NM_000069.3(CACNA1S):c.4441+3G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 1342775	NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)	CACNA1S (R1472H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 1026113	NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)	CACNA1S (R1472C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 695797	NM_000069.3(CACNA1S):c.4374C>T (p.Asp1458=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 541040	NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)	CACNA1S (R1447Q)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 1584244	NM_000069.3(CACNA1S):c.4338+13G>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GBenign/Likely benign
Select item 473994	NM_000069.3(CACNA1S):c.4242G>A (p.Lys1414=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 1012547	NM_000069.3(CACNA1S):c.4242-4G>A	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 1091672	NM_000069.3(CACNA1S):c.4242-10C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 541065	NM_000069.3(CACNA1S):c.4176C>G (p.Ser1392=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1157217	NM_000069.3(CACNA1S):c.4113+7_4113+8inv	CACNA1S	Inversion (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 705807	NM_000069.3(CACNA1S):c.4032T>C (p.Tyr1344=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 389444	NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GLikely benign
Select item 1043053	NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu)	CACNA1S (S1342L)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 575619	NM_000069.3(CACNA1S):c.3998G>A (p.Ser1333Asn)	CACNA1S (S1333N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 384314	NM_000069.3(CACNA1S):c.3953+14G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 1365693	NM_000069.3(CACNA1S):c.3953+5G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 1559007	NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 969194	NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln)	CACNA1S (R1302Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 473992	NM_000069.3(CACNA1S):c.3890G>A (p.Gly1297Glu)	CACNA1S (G1297E)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1021634	NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn)	CACNA1S (K1291N)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 294726	NM_000069.3(CACNA1S):c.3861+14G>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GBenign/Likely benign
Select item 514901	NM_000069.3(CACNA1S):c.3796-13G>A	CACNA1S	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
Select item 1543757	NM_000069.3(CACNA1S):c.3796-19G>A	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 633684	NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)	CACNA1S (Q1265H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 473990	NM_000069.3(CACNA1S):c.3777G>A (p.Thr1259=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign/Likely benign
Select item 571333	NM_000069.3(CACNA1S):c.3760C>G (p.Arg1254Gly)	CACNA1S (R1254G)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 573767	NM_000069.3(CACNA1S):c.3754G>A (p.Gly1252Arg)	CACNA1S (G1252R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 541038	NM_000069.3(CACNA1S):c.3752_3754del (p.Glu1251del)	CACNA1S (E1251del)	Deletion (inframe_deletion)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 1399747	NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)	CACNA1S (R1249Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 983515	NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp)	CACNA1S (R1249W)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 656802	NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His)	CACNA1S (R1229H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 698539	NM_000069.3(CACNA1S):c.3667-5C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1587930	NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 1586741	NM_000069.3(CACNA1S):c.3610-17G>A	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 1535949	NM_000069.3(CACNA1S):c.3610-18C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 294730	NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GBenign/Likely benign
Select item 473988	NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)	CACNA1S (I1195T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 254826	NM_000069.3(CACNA1S):c.3525+18C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 446961	NM_000069.3(CACNA1S):c.3525+7del	CACNA1S	Deletion (intron variant)	not specified +5 more	GLikely benign
Select item 1011416	NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val)	CACNA1S (I1152V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 577254	NM_000069.3(CACNA1S):c.3437T>A (p.Met1146Lys)	CACNA1S (M1146K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 706631	NM_000069.3(CACNA1S):c.3429G>A (p.Ser1143=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 473986	NM_000069.3(CACNA1S):c.3425A>C (p.Gln1142Pro)	CACNA1S (Q1142P)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 566678	NM_000069.3(CACNA1S):c.3406G>A (p.Gly1136Ser)	CACNA1S (G1136S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 942056	NM_000069.3(CACNA1S):c.3334T>G (p.Trp1112Gly)	CACNA1S (W1112G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 294731	NM_000069.3(CACNA1S):c.3331G>A (p.Val1111Met)	CACNA1S (V1111M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GBenign/Likely benign
Select item 935742	NM_000069.3(CACNA1S):c.3256C>G (p.Arg1086Gly)	CACNA1S (R1086G)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 21035	NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys)	CACNA1S (R1086C)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 704617	NM_000069.3(CACNA1S):c.3210G>A (p.Glu1070=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 856074	NM_000069.3(CACNA1S):c.3166A>G (p.Met1056Val)	CACNA1S (M1056V)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 1019539	NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn)	CACNA1S (I1046N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 654889	NM_000069.3(CACNA1S):c.3113G>A (p.Arg1038His)	CACNA1S (R1038H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 583409	NM_000069.3(CACNA1S):c.3091G>A (p.Val1031Met)	CACNA1S (V1031M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1316968	NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr)	CACNA1S (A1023T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 1408928	NM_000069.3(CACNA1S):c.3053+19C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 572444	NM_000069.3(CACNA1S):c.3013A>T (p.Met1005Leu)	CACNA1S (M1005L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 700991	NM_000069.3(CACNA1S):c.2979C>T (p.Ser993=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 642906	NM_000069.3(CACNA1S):c.2963G>A (p.Arg988His)	CACNA1S (R988H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1167463	NM_000069.3(CACNA1S):c.2922G>A (p.Val974=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign

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