"Institute for Clinical Genetics, University Hospital TU Dresden, Univ - 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 2575944	NM_000540.3(RYR1):c.2204_2213del (p.His735fs)	RYR1 (H735fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 478228	NM_000540.3(RYR1):c.4108G>A (p.Ala1370Thr)	RYR1 (A1370T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 1319405	NM_000540.3(RYR1):c.9412C>A (p.Pro3138Thr)	RYR1 (P3138T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306987	NM_000540.3(RYR1):c.10970A>G (p.Tyr3657Cys)	RYR1 (Y3652C +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GUncertain significance
Select item 133043	NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)	RYR1 (A4295V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 1210316	NM_000540.3(RYR1):c.14803G>A (p.Gly4935Ser)	RYR1 (G4930S +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GLikely pathogenic FDA Recognized database

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