"PharmGKB"[submitter] AND "RYR1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 132995	NM_000540.3(RYR1):c.103T>C (p.Cys35Arg)	RYR1 (C35R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 133045	NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	RYR1 (R44C)	Single nucleotide variant (missense variant)	enflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 12967	NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	RYR1 (R163C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133137	NM_000540.3(RYR1):c.488G>T (p.Arg163Leu)	RYR1 (R163L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 133245	NM_000540.3(RYR1):c.982C>T (p.Arg328Trp)	RYR1 (R328W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 133029	NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	RYR1 (R401C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12968	NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)	RYR1 (I403M)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GUncertain significance; drug response FDA Recognized database
Select item 12993	NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser)	RYR1 (Y522S)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133102	NM_000540.3(RYR1):c.1597C>T (p.Arg533Cys)	RYR1 (R533C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 133106	NM_000540.3(RYR1):c.1654C>T (p.Arg552Trp)	RYR1 (R552W)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
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 12973	NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)	RYR1 (R2163C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12974	NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	RYR1 (R2163H)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12976	NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	RYR1 (V2168M)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133174	NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	RYR1 (R2336H)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133180	NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)	RYR1 (E2348del)	Microsatellite (inframe_deletion)	desflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 133182	NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)	RYR1 (A2350T)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133183	NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)	RYR1 (R2355W)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133189	NM_000540.3(RYR1):c.7124G>C (p.Gly2375Ala)	RYR1 (G2375A)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
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)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12966	NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	RYR1 (R2435H)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
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 133202	NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)	RYR1 (R2454C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; 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 12971	NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	RYR1 (R2458C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 12972	NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	RYR1 (R2458H)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +6 more	Gdrug response
Select item 133207	NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)	RYR1 (R2508H)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 133240	NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys)	RYR1 (E3104K)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 133027	NM_000540.3(RYR1):c.11969G>T (p.Gly3990Val)	RYR1 (G3990V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 12979	NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)	RYR1 (Y4796C +1 more)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GUncertain significance; drug response FDA Recognized database
Select item 12978	NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile)	RYR1 (T4826I +1 more)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133072	NM_000540.3(RYR1):c.14497C>T (p.His4833Tyr)	RYR1 (H4833Y +1 more)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 133074	NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val)	RYR1 (L4838V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 12984	NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	RYR1 (V4849I +1 more)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +6 more	Gdrug response
Select item 12982	NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)	RYR1 (R4861H +1 more)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GUncertain significance; drug response FDA Recognized database
Select item 12975	NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	RYR1 (I4898T +1 more)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GUncertain significance; drug response FDA Recognized database

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Items: 38