"Baylor Genetics"[submitter] AND "RYR1"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1030857	NM_000540.3(RYR1):c.177dup (p.Asp60fs)	RYR1 (D60fs)	Duplication (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GPathogenic/Likely pathogenic
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 1030861	NM_000540.3(RYR1):c.487C>A (p.Arg163Ser)	RYR1 (R163S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +1 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 1031614	NM_000540.3(RYR1):c.1349A>G (p.Tyr450Cys)	RYR1 (Y450C)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
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 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 1032420	NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)	RYR1 (G705R)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GConflicting classifications of pathogenicity
Select item 1032421	NM_000540.3(RYR1):c.2449C>G (p.Arg817Gly)	RYR1 (R817G)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GUncertain significance
Select item 544404	NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp)	RYR1 (R830W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 1030858	NM_000540.3(RYR1):c.2654G>T (p.Arg885Leu)	RYR1 (R885L)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2582363	NM_000540.3(RYR1):c.2787-15C>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 590508	NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln)	RYR1 (R975Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133122	NM_000540.3(RYR1):c.2996G>A (p.Arg999His)	RYR1 (R999H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 1032422	NM_000540.3(RYR1):c.3094C>G (p.Arg1032Gly)	RYR1 (R1032G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 954950	NM_000540.3(RYR1):c.3396C>G (p.His1132Gln)	RYR1 (H1132Q)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 544419	NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)	RYR1 (V1207M)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GUncertain significance
Select item 1030859	NM_000540.3(RYR1):c.3695C>T (p.Pro1232Leu)	RYR1 (P1232L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 2442154	NM_000540.3(RYR1):c.4226G>A (p.Arg1409Gln)	RYR1 (R1409Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 1030860	NM_000540.3(RYR1):c.4495T>G (p.Phe1499Val)	RYR1 (F1499V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 2582530	NM_000540.3(RYR1):c.4550G>A (p.Cys1517Tyr)	RYR1 (C1517Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 808548	NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp)	RYR1 (R2118W)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	Congenital multicore myopathy with external ophthalmoplegia +8 more	GConflicting classifications of pathogenicity
Select item 133179	NM_000540.3(RYR1):c.7036G>A (p.Val2346Met)	RYR1 (V2346M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 561101	NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg)	RYR1 (G2365R)	Single nucleotide variant (missense variant)	Centronuclear myopathy +5 more	GConflicting classifications of pathogenicity
Select item 561102	NM_000540.3(RYR1):c.7215del (p.Phe2406fs)	RYR1 (F2406fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 65979	NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	RYR1 (R2452W)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 65980	NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	RYR1 (R2454H)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 3237453	NM_000540.3(RYR1):c.7522C>A (p.Arg2508Ser)	RYR1 (R2508S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 1032423	NM_000540.3(RYR1):c.8223G>C (p.Glu2741Asp)	RYR1 (E2741D)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 1030862	NM_000540.3(RYR1):c.8382C>G (p.Tyr2794Ter)	LOC126862902, RYR1 (Y2794*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 197960	NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)	LOC126862902, RYR1 (E2835D)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GConflicting classifications of pathogenicity
Select item 1000444	NM_000540.3(RYR1):c.8743G>A (p.Glu2915Lys)	RYR1 (E2915K)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 1030863	NM_000540.3(RYR1):c.9560G>A (p.Arg3187Gln)	RYR1 (R3187Q)	Single nucleotide variant (missense variant)	Central core myopathy +2 more	GUncertain significance
Select item 329090	NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	RYR1 (E3212G)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 132990	NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	RYR1 (R3366H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 576534	NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met)	RYR1 (T3425M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 573631	NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro)	RYR1 (R3499P +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 590369	NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu)	RYR1 (K3537E +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 133021	NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	RYR1 (Y3928C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +8 more	GConflicting classifications of pathogenicity
Select item 201152	NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)	RYR1 (S4028L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1029907	NM_000540.3(RYR1):c.12094+4A>G	RYR1	Single nucleotide variant (intron variant)	Central core myopathy	GUncertain significance
Select item 1031612	NM_000540.3(RYR1):c.12889G>C (p.Val4297Leu)	RYR1 (V4297L +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 1030854	NM_000540.3(RYR1):c.13022C>G (p.Thr4341Arg)	RYR1 (T4341R +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GUncertain significance
Select item 1030855	NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr)	RYR1 (A4338T +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 1031613	NM_000540.3(RYR1):c.13192G>A (p.Gly4398Arg)	RYR1 (G4393R +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GUncertain significance
Select item 1030856	NM_000540.3(RYR1):c.13334C>G (p.Pro4445Arg)	LOC130064357, RYR1 (P4440R +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GUncertain significance
Select item 65984	NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	RYR1 (R4558Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 218466	NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln)	RYR1 (R4564Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 65996	NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	RYR1 (T4709M +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 65986	NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	RYR1 (R4861C +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133098	NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	RYR1 (P4973L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 256454	NM_000540.3(RYR1):c.15015G>A (p.Thr5005=)	RYR1	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity

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Items: 55