"GeneReviews"[submitter] AND "LOC129391106"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133076	NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	LOC129391106, RYR1 (M485V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 65935	NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys)	LOC129391106, RYR1 (E512K)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance