"Ambry Genetics"[submitter] AND "RYR1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2236131	NM_000540.3(RYR1):c.97A>C (p.Lys33Gln)	RYR1 (K33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521422	NM_000540.3(RYR1):c.124G>C (p.Gly42Arg)	RYR1 (G42R)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 499535	NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)	RYR1 (T148I)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 478239	NM_000540.3(RYR1):c.548C>T (p.Thr183Ile)	RYR1 (T183I)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3157343	NM_000540.3(RYR1):c.713A>G (p.Asp238Gly)	RYR1 (D238G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247494	NM_000540.3(RYR1):c.904G>T (p.Asp302Tyr)	RYR1 (D302Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157348	NM_000540.3(RYR1):c.952T>A (p.Ser318Thr)	RYR1 (S318T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491232	NM_000540.3(RYR1):c.965T>C (p.Leu322Pro)	RYR1 (L322P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547220	NM_000540.3(RYR1):c.1006C>T (p.Pro336Ser)	RYR1 (P336S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 837913	NM_000540.3(RYR1):c.1298C>T (p.Thr433Met)	RYR1 (T433M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2538831	NM_000540.3(RYR1):c.1378C>T (p.His460Tyr)	RYR1 (H460Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3157334	NM_000540.3(RYR1):c.1489A>G (p.Thr497Ala)	LOC129391106, RYR1 (T497A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2019839	NM_000540.3(RYR1):c.1516G>A (p.Ala506Thr)	LOC129391106, RYR1 (A506T)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 2616137	NM_000540.3(RYR1):c.1750T>C (p.Ser584Pro)	RYR1 (S584P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	sevoflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 3157335	NM_000540.3(RYR1):c.1926C>T (p.Ser642=)	RYR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 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 3069939	NM_000540.3(RYR1):c.2216C>T (p.Pro739Leu)	RYR1 (P739L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 161369	NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	RYR1 (N759D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +8 more	GConflicting classifications of pathogenicity
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 2997416	NM_000540.3(RYR1):c.2381G>A (p.Gly794Asp)	RYR1 (G794D)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 2071672	NM_000540.3(RYR1):c.2528G>T (p.Arg843Leu)	RYR1 (R843L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GUncertain significance
Select item 201156	NM_000540.3(RYR1):c.2551G>A (p.Val851Met)	RYR1 (V851M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GLikely benign
Select item 967664	NM_000540.3(RYR1):c.2588C>T (p.Pro863Leu)	RYR1 (P863L)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 521351	NM_000540.3(RYR1):c.2609G>A (p.Arg870Gln)	RYR1 (R870Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 328999	NM_000540.3(RYR1):c.2711C>T (p.Pro904Leu)	RYR1 (P904L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 3157336	NM_000540.3(RYR1):c.2771C>G (p.Ser924Cys)	RYR1 (S924C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 968662	NM_000540.3(RYR1):c.2780C>T (p.Thr927Met)	RYR1 (T927M)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 224377	NM_000540.3(RYR1):c.2822C>T (p.Ala941Val)	RYR1 (A941V)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GConflicting classifications of pathogenicity
Select item 2267077	NM_000540.3(RYR1):c.2866A>G (p.Lys956Glu)	RYR1 (K956E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 500206	NM_000540.3(RYR1):c.3208C>T (p.Arg1070Trp)	RYR1 (R1070W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GUncertain significance
Select item 2605068	NM_000540.3(RYR1):c.3270G>C (p.Glu1090Asp)	RYR1 (E1090D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 329008	NM_000540.3(RYR1):c.3299G>A (p.Arg1100His)	RYR1 (R1100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 478222	NM_000540.3(RYR1):c.3311C>T (p.Ala1104Val)	RYR1 (A1104V)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 890998	NM_000540.3(RYR1):c.3319G>A (p.Glu1107Lys)	RYR1 (E1107K)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GUncertain significance
Select item 420141	NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)	RYR1 (Y1121C)	Single nucleotide variant (missense variant)	RYR1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 329009	NM_000540.3(RYR1):c.3379C>T (p.Arg1127Cys)	RYR1 (R1127C)	Single nucleotide variant (missense variant)	RYR1-related disorder +8 more	GUncertain significance
Select item 590515	NM_000540.3(RYR1):c.3442G>A (p.Val1148Ile)	RYR1 (V1148I)	Single nucleotide variant (missense variant)	RYR1-related disorder +8 more	GUncertain significance
Select item 581666	NM_000540.3(RYR1):c.3548T>C (p.Ile1183Thr)	RYR1 (I1183T)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +3 more	GUncertain significance
Select item 3157337	NM_000540.3(RYR1):c.3553G>A (p.Asp1185Asn)	RYR1 (D1185N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 839320	NM_000540.3(RYR1):c.3808C>T (p.Arg1270Cys)	RYR1 (R1270C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1494426	NM_000540.3(RYR1):c.3952G>A (p.Ala1318Thr)	RYR1 (A1318T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1523848	NM_000540.3(RYR1):c.4072G>A (p.Gly1358Arg)	RYR1 (G1358R)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 2284835	NM_000540.3(RYR1):c.4219C>G (p.Leu1407Val)	RYR1 (L1407V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 329025	NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)	RYR1 (V1436M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 658283	NM_000540.3(RYR1):c.4390G>A (p.Asp1464Asn)	RYR1 (D1464N)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 954376	NM_000540.3(RYR1):c.4429G>A (p.Asp1477Asn)	RYR1 (D1477N)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 572002	NM_000540.3(RYR1):c.4444G>A (p.Val1482Ile)	RYR1 (V1482I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 544403	NM_000540.3(RYR1):c.4657G>A (p.Val1553Ile)	RYR1 (V1553I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GUncertain significance
Select item 2284235	NM_000540.3(RYR1):c.4724C>T (p.Ser1575Leu)	RYR1 (S1575L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334993	NM_000540.3(RYR1):c.4801C>A (p.Pro1601Thr)	RYR1 (P1601T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 478233	NM_000540.3(RYR1):c.4847C>T (p.Thr1616Met)	RYR1 (T1616M)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GConflicting classifications of pathogenicity
Select item 1194181	NM_000540.3(RYR1):c.4864C>T (p.Arg1622Trp)	RYR1 (R1622W)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 994735	NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys)	RYR1 (R1655C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 520725	NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)	RYR1 (L1706fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 3157340	NM_000540.3(RYR1):c.5170C>G (p.Arg1724Gly)	RYR1 (R1724G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 133144	NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	RYR1 (S1728F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 544450	NM_000540.3(RYR1):c.5464G>A (p.Gly1822Ser)	RYR1 (G1822S)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 1003696	NM_000540.3(RYR1):c.5533G>C (p.Val1845Leu)	RYR1 (V1845L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2557580	NM_000540.3(RYR1):c.5557A>C (p.Ile1853Leu)	RYR1 (I1853L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556559	NM_000540.3(RYR1):c.5617G>A (p.Glu1873Lys)	RYR1 (E1873K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 478240	NM_000540.3(RYR1):c.5638G>A (p.Glu1880Lys)	RYR1 (E1880K)	Single nucleotide variant (missense variant)	RYR1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1214398	NM_000540.3(RYR1):c.5671G>A (p.Glu1891Lys)	RYR1 (E1891K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 649867	NM_000540.3(RYR1):c.5708A>C (p.Lys1903Thr)	RYR1 (K1903T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1441339	NM_000540.3(RYR1):c.5891G>A (p.Arg1964His)	RYR1 (R1964H)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 972545	NM_000540.3(RYR1):c.6050A>G (p.Asp2017Gly)	RYR1 (D2017G)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +7 more	GUncertain significance
Select item 979082	NM_000540.3(RYR1):c.6139G>C (p.Asp2047His)	RYR1 (D2047H)	Single nucleotide variant (missense variant)	RYR1-related disorder +3 more	GUncertain significance
Select item 3157341	NM_000540.3(RYR1):c.6267C>A (p.Ser2089Arg)	RYR1 (S2089R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268139	NM_000540.3(RYR1):c.6271C>T (p.Pro2091Ser)	RYR1 (P2091S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241987	NM_000540.3(RYR1):c.6355G>A (p.Ala2119Thr)	RYR1 (A2119T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 959133	NM_000540.3(RYR1):c.6479G>T (p.Gly2160Val)	RYR1 (G2160V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2289946	NM_000540.3(RYR1):c.6514C>T (p.Pro2172Ser)	RYR1 (P2172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1023007	NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg)	RYR1 (L2236R)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 329056	NM_000540.3(RYR1):c.6910G>A (p.Gly2304Ser)	RYR1 (G2304S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GUncertain significance
Select item 2239482	NM_000540.3(RYR1):c.7108G>A (p.Gly2370Ser)	RYR1 (G2370S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 133193	NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)	RYR1 (A2428T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 12970	NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	RYR1 (G2434R)	Single nucleotide variant (missense variant)	methoxyflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 2293073	NM_000540.3(RYR1):c.7435C>A (p.Leu2479Met)	RYR1 (L2479M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 444466	NM_000540.3(RYR1):c.7483G>A (p.Val2495Met)	RYR1 (V2495M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 65981	NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	RYR1 (R2508C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 1415421	NM_000540.3(RYR1):c.7600G>A (p.Ala2534Thr)	RYR1 (A2534T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3071850	NM_000540.3(RYR1):c.7646C>T (p.Ala2549Val)	RYR1 (A2549V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 3157344	NM_000540.3(RYR1):c.7663T>C (p.Cys2555Arg)	RYR1 (C2555R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1522317	NM_000540.3(RYR1):c.7754C>T (p.Thr2585Ile)	RYR1 (T2585I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 499811	NM_000540.3(RYR1):c.7798C>T (p.Arg2600Cys)	RYR1 (R2600C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2064676	NM_000540.3(RYR1):c.7819C>T (p.Leu2607Phe)	RYR1 (L2607F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 3157345	NM_000540.3(RYR1):c.7822A>C (p.Met2608Leu)	RYR1 (M2608L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319188	NM_000540.3(RYR1):c.7850C>G (p.Ser2617Trp)	RYR1 (S2617W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391300	NM_000540.3(RYR1):c.7850C>T (p.Ser2617Leu)	RYR1 (S2617L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 985942	NM_000540.3(RYR1):c.7876C>G (p.Leu2626Val)	RYR1 (L2626V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1933243	NM_000540.3(RYR1):c.7949G>A (p.Arg2650His)	RYR1 (R2650H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 2269431	NM_000540.3(RYR1):c.8044A>G (p.Ile2682Val)	RYR1 (I2682V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 872587	NM_000540.3(RYR1):c.8078C>T (p.Pro2693Leu)	RYR1 (P2693L)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 847440	NM_000540.3(RYR1):c.8263A>G (p.Ile2755Val)	RYR1 (I2755V)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 1405915	NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys)	LOC126862902, RYR1 (E2783K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 523076	NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)	LOC126862902, RYR1 (M2816V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3157346	NM_000540.3(RYR1):c.8474A>G (p.Lys2825Arg)	LOC126862902, RYR1 (K2825R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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