"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC126862902"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 452402	NM_000540.3(RYR1):c.8330A>T (p.Tyr2777Phe)	LOC126862902, RYR1 (Y2777F)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 93299	NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +8 more	GBenign
Select item 590611	NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)	LOC126862902, RYR1 (I2781fs)	Deletion (frameshift variant)	Centronuclear myopathy +7 more	GConflicting classifications of pathogenicity
Select item 847990	NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr)	LOC126862902, RYR1 (I2781T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 133223	NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser)	LOC126862902, RYR1 (T2787S)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 890999	NM_000540.3(RYR1):c.8377C>T (p.Pro2793Ser)	LOC126862902, RYR1 (P2793S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +7 more	GUncertain significance
Select item 590614	NM_000540.3(RYR1):c.8450T>C (p.Ile2817Thr)	LOC126862902, RYR1 (I2817T)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 544422	NM_000540.3(RYR1):c.8488GAG[2] (p.Glu2832del)	LOC126862902, RYR1 (E2832del)	Microsatellite (inframe_deletion)	Central core myopathy +6 more	GUncertain significance
Select item 197960	NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp)	LOC126862902, RYR1 (E2835D)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GConflicting classifications of pathogenicity
Select item 640070	NM_000540.3(RYR1):c.8516C>T (p.Thr2839Met)	LOC126862902, RYR1 (T2839M)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GUncertain significance
Select item 133226	NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)	LOC126862902, RYR1 (R2840W)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 93300	NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related myopathy	GBenign FDA Recognized database