"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC126862902 - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 197946	NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)	LOC126862902, RYR1 (S2776F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 93299	NM_000540.3(RYR1):c.8337G>A (p.Glu2779=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +7 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)	Congenital multicore myopathy with external ophthalmoplegia +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 256574	NM_000540.3(RYR1):c.8361C>T (p.Thr2787=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 167620	NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 697345	NM_000540.3(RYR1):c.8442G>A (p.Lys2814=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 93300	NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +7 more	GBenign