C0024591[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1678638	NM_080704.4(TRPV1):c.2165G>A (p.Arg722His)	TRPV1 (R722H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	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 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 93269	NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	RYR1 (K1393R)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 133175	NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	RYR1 (N2342S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign 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 133202	NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)	RYR1 (R2454C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 1308515	NM_000540.3(RYR1):c.8054C>T (p.Ser2685Phe)	RYR1 (S2685F)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 201158	NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)	RYR1 (V3088M)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 133040	NM_000540.3(RYR1):c.12700G>C (p.Val4234Leu)	RYR1 (V4234L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GLikely pathogenic 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