"Genome Diagnostics Laboratory, Amsterdam University Medical Center"[s - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 544424	NM_000540.3(RYR1):c.821G>C (p.Arg274Pro)	RYR1 (R274P)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	sevoflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 161363	NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)	RYR1 (A933T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	Congenital multicore myopathy with external ophthalmoplegia +8 more	GConflicting classifications of pathogenicity
Select item 132988	NM_000540.3(RYR1):c.10043G>A (p.Arg3348His)	RYR1 (R3348H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 132997	NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	RYR1 (R3539H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GLikely benign FDA Recognized database
Select item 1045546	NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp)	RYR1 (R3763W +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 285857	NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)	RYR1 (R4757H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database