"Revvity Omics, Revvity"[submitter] AND "RYR1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435577	NM_000540.3(RYR1):c.-568T>C	RYR1	Single nucleotide variant	not provided	GUncertain significance
Select item 2435601	NM_000540.3(RYR1):c.3G>C (p.Met1Ile)	RYR1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435569	NM_000540.3(RYR1):c.40C>T (p.Arg14Trp)	RYR1 (R14W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 666139	NM_000540.3(RYR1):c.79G>A (p.Val27Met)	RYR1 (V27M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 224362	NM_000540.3(RYR1):c.89A>T (p.Glu30Val)	RYR1 (E30V)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GConflicting classifications of pathogenicity
Select item 195083	NM_000540.3(RYR1):c.94C>T (p.Leu32Phe)	RYR1 (L32F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 478170	NM_000540.3(RYR1):c.122T>C (p.Phe41Ser)	RYR1 (F41S)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2435630	NM_000540.3(RYR1):c.124G>A (p.Gly42Ser)	RYR1 (G42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133045	NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	RYR1 (R44C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 2435589	NM_000540.3(RYR1):c.133C>G (p.Leu45Val)	RYR1 (L45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 133099	NM_000540.3(RYR1):c.152C>A (p.Thr51Asn)	RYR1 (T51N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
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 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 1043556	NM_000540.3(RYR1):c.283G>A (p.Gly95Arg)	RYR1 (G95R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
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 2435555	NM_000540.3(RYR1):c.392C>T (p.Ala131Val)	RYR1 (A131V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435535	NM_000540.3(RYR1):c.400G>A (p.Val134Met)	RYR1 (V134M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 544412	NM_000540.3(RYR1):c.418G>A (p.Ala140Thr)	RYR1 (A140T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 2435525	NM_000540.3(RYR1):c.425-4A>G	RYR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2435568	NM_000540.3(RYR1):c.502A>G (p.Ile168Val)	RYR1 (I168V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2435610	NM_000540.3(RYR1):c.538-3C>G	RYR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 478239	NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)	RYR1 (T183I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1406913	NM_000540.3(RYR1):c.601A>G (p.Met201Val)	RYR1 (M201V)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 478246	NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)	RYR1 (C205S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 478249	NM_000540.3(RYR1):c.625G>A (p.Glu209Lys)	RYR1 (E209K)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
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 838708	NM_000540.3(RYR1):c.643G>A (p.Gly215Arg)	RYR1 (G215R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
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 849271	NM_000540.3(RYR1):c.766C>T (p.Arg256Cys)	RYR1 (R256C)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 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 2435573	NM_000540.3(RYR1):c.785A>G (p.Glu262Gly)	RYR1 (E262G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590608	NM_000540.3(RYR1):c.820C>T (p.Arg274Cys)	RYR1 (R274C)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 193601	NM_000540.3(RYR1):c.845G>A (p.Arg282Gln)	RYR1 (R282Q)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 193600	NM_000540.3(RYR1):c.957+5_957+29del	RYR1	Deletion (splice donor variant)	RYR1-related disorder +4 more	GUncertain significance
Select item 569043	NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)	RYR1 (E320K)	Single nucleotide variant (missense variant)	Central core myopathy +2 more	GConflicting classifications of pathogenicity
Select item 1116148	NM_000540.3(RYR1):c.975C>T (p.Ala325=)	RYR1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559646	NM_000540.3(RYR1):c.983G>A (p.Arg328Gln)	RYR1 (R328Q)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 2690691	NM_000540.3(RYR1):c.1007dup (p.Pro336_Glu337insTer)	RYR1	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 12969	NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg)	RYR1 (G341R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 835864	NM_000540.3(RYR1):c.1126A>G (p.Met376Val)	RYR1 (M376V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689892	NM_000540.3(RYR1):c.1174_1176dup (p.Cys392_Gln393insCys)	RYR1	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 133029	NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	RYR1 (R401C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
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 590396	NM_000540.3(RYR1):c.1211A>G (p.His404Arg)	RYR1 (H404R)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2435585	NM_000540.3(RYR1):c.1244+3G>A	RYR1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1507115	NM_000540.3(RYR1):c.1247G>A (p.Ser416Asn)	RYR1 (S416N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 544398	NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	RYR1 (L417P)	Single nucleotide variant (missense variant)	Myopathy, RYR1-associated +6 more	GConflicting classifications of pathogenicity
Select item 2435514	NM_000540.3(RYR1):c.1263C>A (p.Ser421Arg)	RYR1 (S421R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 523377	NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	RYR1 (G422R)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
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 590438	NM_000540.3(RYR1):c.1380C>G (p.His460Gln)	RYR1 (H460Q)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 224365	NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys)	RYR1 (E462K)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 2435606	NM_000540.3(RYR1):c.1403G>A (p.Arg468Gln)	RYR1 (R468Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 581618	NM_000540.3(RYR1):c.1423A>T (p.Ser475Cys)	RYR1 (S475C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2438132	NM_000540.2(RYR1):c.1439_1440+1del	RYR1	Microsatellite	not provided	GPathogenic
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 2435548	NM_000540.3(RYR1):c.1468A>G (p.Ile490Val)	LOC129391106, RYR1 (I490V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066582	NM_000540.3(RYR1):c.1474C>G (p.Arg492Gly)	LOC129391106, RYR1 (R492G)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
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 2019839	NM_000540.3(RYR1):c.1516G>A (p.Ala506Thr)	LOC129391106, RYR1 (A506T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2435544	NM_000540.3(RYR1):c.1531G>T (p.Ala511Ser)	LOC129391106, RYR1 (A511S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435560	NM_000540.3(RYR1):c.1550T>C (p.Ile517Thr)	LOC129391106, RYR1 (I517T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808532	NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys)	RYR1 (R530C)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 133101	NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	RYR1 (R530H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 133102	NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)	RYR1 (R533C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
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 2170561	NM_000540.3(RYR1):c.1605C>A (p.Asn535Lys)	RYR1 (N535K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 2435528	NM_000540.3(RYR1):c.1669T>A (p.Ser557Thr)	RYR1 (S557T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 224368	NM_000540.3(RYR1):c.1753A>G (p.Ile585Val)	RYR1 (I585V)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 590489	NM_000540.3(RYR1):c.1834G>A (p.Ala612Thr)	RYR1 (A612T)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 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 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 1547910	NM_000540.3(RYR1):c.1925+7C>T	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1017749	NM_000540.3(RYR1):c.1943T>C (p.Phe648Ser)	RYR1 (F648S)	Single nucleotide variant (missense variant)	not provided +2 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 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 1365722	NM_000540.3(RYR1):c.2008G>T (p.Val670Leu)	RYR1 (V670L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 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 660615	NM_000540.3(RYR1):c.2179C>T (p.Arg727Cys)	RYR1 (R727C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2435596	NM_000540.3(RYR1):c.2195C>T (p.Pro732Leu)	RYR1 (P732L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435616	NM_000540.3(RYR1):c.2242G>A (p.Asp748Asn)	RYR1 (D748N)	Single nucleotide variant (missense variant)	not provided	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 935062	NM_000540.3(RYR1):c.2278G>A (p.Gly760Ser)	RYR1 (G760S)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
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 328996	NM_000540.3(RYR1):c.2356G>A (p.Val786Ile)	RYR1 (V786I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 1567107	NM_000540.3(RYR1):c.2361-4C>G	RYR1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 838674	NM_000540.3(RYR1):c.2362G>T (p.Val788Leu)	RYR1 (V788L)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 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

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