"Ambry Genetics"[submitter] AND "LOC129391106"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1050940	NM_000540.3(RYR1):c.1475G>A (p.Arg492His)	LOC129391106, RYR1 (R492H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 2019839	NM_000540.3(RYR1):c.1516G>A (p.Ala506Thr)	LOC129391106, RYR1 (A506T)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +3 more	GUncertain significance