C1850674[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 328987	NM_000540.3(RYR1):c.-74A>C	RYR1	Single nucleotide variant (5 prime UTR variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 328989	NM_000540.3(RYR1):c.-69T>G	RYR1	Single nucleotide variant (5 prime UTR variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 590536	NM_000540.3(RYR1):c.46-5C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +6 more	GLikely benign
Select item 699389	NM_000540.3(RYR1):c.46-4G>A	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 842174	NM_000540.3(RYR1):c.49G>A (p.Asp17Asn)	RYR1 (D17N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 544416	NM_000540.3(RYR1):c.82C>T (p.Leu28Phe)	RYR1 (L28F)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 658548	NM_000540.3(RYR1):c.112G>A (p.Ala38Thr)	RYR1 (A38T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1210306	NM_000540.3(RYR1):c.119G>C (p.Gly40Ala)	RYR1 (G40A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 1051998	NM_000540.3(RYR1):c.161C>A (p.Ala54Glu)	RYR1 (A54E)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 561100	NM_000540.3(RYR1):c.208C>T (p.Gln70Ter)	RYR1 (Q70*)	Single nucleotide variant (nonsense)	Central core myopathy +6 more	GConflicting classifications of pathogenicity
Select item 808527	NM_000540.3(RYR1):c.251C>T (p.Thr84Met)	RYR1 (T84M)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 430468	NM_000540.3(RYR1):c.251C>G (p.Thr84Arg)	RYR1 (T84R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 227056	NM_000540.3(RYR1):c.297G>A (p.Thr99=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +6 more	GBenign/Likely benign
Select item 12988	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1 (R109W)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +6 more	GConflicting classifications of pathogenicity
Select item 842089	NM_000540.3(RYR1):c.370C>T (p.Arg124Cys)	RYR1 (R124C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 575635	NM_000540.3(RYR1):c.424+4C>A	RYR1	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +6 more	GUncertain significance
Select item 256504	NM_000540.3(RYR1):c.425-19A>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +6 more	GBenign/Likely benign
Select item 499535	NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	RYR1 (T148I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 635269	NM_000540.3(RYR1):c.488G>A (p.Arg163His)	RYR1 (R163H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 198090	NM_000540.3(RYR1):c.526G>A (p.Glu176Lys)	RYR1 (E176K)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 328993	NM_000540.3(RYR1):c.577T>A (p.Ser193Thr)	RYR1 (S193T)	Single nucleotide variant (missense variant)	Central core myopathy +8 more	GUncertain significance
Select item 1678617	NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)	RYR1 (T214A)	Single nucleotide variant (missense variant)	Central core myopathy +4 more	GUncertain significance
Select item 167614	NM_000540.3(RYR1):c.641C>T (p.Thr214Met)	RYR1 (T214M)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 808528	NM_000540.3(RYR1):c.668A>G (p.His223Arg)	RYR1 (H223R)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 662533	NM_000540.3(RYR1):c.721C>T (p.Arg241Cys)	RYR1 (R241C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 430199	NM_000540.3(RYR1):c.722G>A (p.Arg241His)	RYR1 (R241H)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 1304575	NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys)	RYR1 (Y246C)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 590594	NM_000540.3(RYR1):c.767G>A (p.Arg256His)	RYR1 (R256H)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 544424	NM_000540.3(RYR1):c.821G>C (p.Arg274Pro)	RYR1 (R274P)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 1462128	NM_000540.3(RYR1):c.825G>T (p.Trp275Cys)	RYR1 (W275C)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 567487	NM_000540.3(RYR1):c.847C>T (p.His283Tyr)	RYR1 (H283Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 965774	NM_000540.3(RYR1):c.859G>A (p.Gly287Arg)	RYR1 (G287R)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 851952	NM_000540.3(RYR1):c.872C>T (p.Ala291Val)	RYR1 (A291V)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 159862	NM_000540.3(RYR1):c.897G>C (p.Val299=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 159863	NM_000540.3(RYR1):c.906C>T (p.Asp302=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +7 more	GBenign/Likely benign
Select item 847164	NM_000540.3(RYR1):c.907G>A (p.Ala303Thr)	RYR1 (A303T)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GUncertain significance
Select item 425174	NM_000540.3(RYR1):c.929C>T (p.Ala310Val)	RYR1 (A310V)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 889434	NM_000540.3(RYR1):c.946C>T (p.Arg316Cys)	RYR1 (R316C)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 1367389	NM_000540.3(RYR1):c.947G>A (p.Arg316His)	RYR1 (R316H)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1430036	NM_000540.3(RYR1):c.985G>A (p.Asp329Asn)	RYR1 (D329N)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GUncertain significance
Select item 93243	NM_000540.3(RYR1):c.1077T>C (p.Ala359=)	RYR1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 167615	NM_000540.3(RYR1):c.1087C>T (p.Pro363Ser)	RYR1 (P363S)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 660241	NM_000540.3(RYR1):c.1105G>A (p.Gly369Ser)	RYR1 (G369S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 1434613	NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del)	RYR1 (K374del)	Microsatellite (inframe_deletion)	Central core myopathy +5 more	GUncertain significance
Select item 194002	NM_000540.3(RYR1):c.1172G>A (p.Arg391His)	RYR1 (R391H)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GUncertain significance
Select item 580665	NM_000540.3(RYR1):c.1204A>G (p.Met402Val)	RYR1 (M402V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 590419	NM_000540.3(RYR1):c.1286C>T (p.Pro429Leu)	RYR1 (P429L)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 544452	NM_000540.3(RYR1):c.1372T>G (p.Leu458Val)	RYR1 (L458V)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 423940	NM_000540.3(RYR1):c.1418G>A (p.Arg473His)	RYR1 (R473H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 133076	NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	LOC129391106, RYR1 (M485V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 224366	NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys)	LOC129391106, RYR1 (R492C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 1050940	NM_000540.3(RYR1):c.1475G>A (p.Arg492His)	LOC129391106, RYR1 (R492H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 700839	NM_000540.3(RYR1):c.1479A>C (p.Leu493=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GLikely benign
Select item 1089697	NM_000540.3(RYR1):c.1518A>G (p.Ala506=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +6 more	GLikely benign
Select item 256457	NM_000540.3(RYR1):c.1533C>T (p.Ala511=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	not specified +6 more	GLikely benign
Select item 451318	NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe)	LOC129391106, RYR1 (L521F)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +6 more	GUncertain significance
Select item 159838	NM_000540.3(RYR1):c.1577-6C>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +8 more	GBenign/Likely benign
Select item 1032419	NM_000540.3(RYR1):c.1593C>T (p.Gly531=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GConflicting classifications of pathogenicity
Select item 133103	NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	RYR1 (R533H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 93258	NM_000540.3(RYR1):c.1668G>A (p.Ser556=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +7 more	GBenign
Select item 590486	NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala)	RYR1 (E572A)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 449573	NM_000540.3(RYR1):c.1735G>A (p.Glu579Lys)	RYR1 (E579K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 945468	NM_000540.3(RYR1):c.1768G>T (p.Asp590Tyr)	RYR1 (D590Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133108	NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu)	RYR1 (R614L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 590491	NM_000540.3(RYR1):c.1882C>T (p.Arg628Cys)	RYR1 (R628C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 256465	NM_000540.3(RYR1):c.1923C>G (p.Thr641=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +10 more	GBenign/Likely benign
Select item 1643897	NM_000540.3(RYR1):c.1925+19G>A	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +5 more	GLikely benign
Select item 565426	NM_000540.3(RYR1):c.1937A>G (p.Asn646Ser)	RYR1 (N646S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 848919	NM_000540.3(RYR1):c.1955C>T (p.Ala652Val)	RYR1 (A652V)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 1398835	NM_000540.3(RYR1):c.1967C>T (p.Thr656Met)	RYR1 (T656M)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 853883	NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter)	RYR1 (W661*)	Single nucleotide variant (nonsense)	RYR1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 242414	NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter)	RYR1 (Q677*)	Single nucleotide variant (nonsense)	RYR1-related disorder +6 more	GPathogenic
Select item 813941	NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	RYR1 (R682W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 663301	NM_000540.3(RYR1):c.2065G>A (p.Glu689Lys)	RYR1 (E689K)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1391067	NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala)	RYR1 (T692A)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 544407	NM_000540.3(RYR1):c.2092G>A (p.Gly698Ser)	RYR1 (G698S)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 452190	NM_000540.3(RYR1):c.2107G>A (p.Gly703Ser)	RYR1 (G703S)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +6 more	GUncertain significance
Select item 1032420	NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	RYR1 (G705R)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GConflicting classifications of pathogenicity
Select item 159840	NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)	RYR1 (D708N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 566364	NM_000540.3(RYR1):c.2269C>T (p.Arg757Cys)	RYR1 (R757C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 161369	NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	RYR1 (N759D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 93259	NM_000540.3(RYR1):c.2286C>T (p.Pro762=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +7 more	GBenign
Select item 590499	NM_000540.3(RYR1):c.2287G>A (p.Val763Met)	RYR1 (V763M)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 496666	NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)	RYR1 (G774R)	Single nucleotide variant (missense variant)	Central core myopathy +8 more	GUncertain significance
Select item 423297	NM_000540.3(RYR1):c.2365C>T (p.Arg789Trp)	RYR1 (R789W)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 478212	NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys)	RYR1 (R795C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1200067	NM_000540.3(RYR1):c.2384G>A (p.Arg795His)	RYR1 (R795H)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 478214	NM_000540.3(RYR1):c.2450G>A (p.Arg817Gln)	RYR1 (R817Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 224373	NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln)	RYR1 (E823Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 657359	NM_000540.3(RYR1):c.2480A>T (p.Glu827Val)	RYR1 (E827V)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 590500	NM_000540.3(RYR1):c.2489G>A (p.Arg830Gln)	RYR1 (R830Q)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 944075	NM_000540.3(RYR1):c.2500C>T (p.Arg834Trp)	RYR1 (R834W)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 658407	NM_000540.3(RYR1):c.2527C>T (p.Arg843Cys)	RYR1 (R843C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 572029	NM_000540.3(RYR1):c.2531G>A (p.Cys844Tyr)	RYR1 (C844Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 808536	NM_000540.3(RYR1):c.2594A>T (p.His865Leu)	RYR1 (H865L)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 478216	NM_000540.3(RYR1):c.2618T>C (p.Leu873Pro)	RYR1 (L873P)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 201145	NM_000540.3(RYR1):c.2645C>T (p.Ala882Val)	RYR1 (A882V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 212100	NM_000540.3(RYR1):c.2654G>A (p.Arg885His)	RYR1 (R885H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 569224	NM_000540.3(RYR1):c.2659G>A (p.Glu887Lys)	RYR1 (E887K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance

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