R-( )-4-Chloro-3-hydroxybutyronitrile - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 133174	NM_000540.3(RYR1):c.7007G>A (p.Arg2336His)	RYR1 (R2336H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +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)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 12970	NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	RYR1 (G2434R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database

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