"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC129391106"[gen - ClinVar

	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 224366	NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys)	LOC129391106, RYR1 (R492C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
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 700839	NM_000540.3(RYR1):c.1479A>C (p.Leu493=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +5 more	GLikely benign
Select item 1089697	NM_000540.3(RYR1):c.1518A>G (p.Ala506=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 256457	NM_000540.3(RYR1):c.1533C>T (p.Ala511=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GLikely benign
Select item 451318	NM_000540.3(RYR1):c.1561C>T (p.Leu521Phe)	LOC129391106, RYR1 (L521F)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance

ClinVar