"RYR1-Related Disorder"[Disease/phenotype] AND "Greenwood Genetic Cent - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 12966	NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	RYR1 (R2435H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 653550	NM_000540.3(RYR1):c.8441A>G (p.Lys2814Arg)	LOC126862902, RYR1 (K2814R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 286387	NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu)	RYR1 (P4522L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 133061	NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)	RYR1 (R4737Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 12984	NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	RYR1 (V4849I +1 more)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +6 more	Gdrug response

ClinVar