C1840365[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 55831	NM_000540.3(RYR1):c.97A>G (p.Lys33Glu)	RYR1 (K33E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 12988	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1 (R109W)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
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 12977	NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	RYR1 (T2206M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1 +8 more	GConflicting classifications of pathogenicity
Select item 12989	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1 (M2423K)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +7 more	GConflicting classifications of pathogenicity
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 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 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