"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "RYR - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193600	NM_000540.3(RYR1):c.957+5_957+29del	RYR1	Deletion (splice donor variant)	RYR1-related disorder +4 more	GUncertain significance
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