"Eurofins Ntd Llc (ga)"[submitter] AND "LOC126862902"[gene] - ClinVar

	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)	RYR1-related disorder +8 more	GBenign
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 167620	NM_000540.3(RYR1):c.8376G>A (p.Arg2792=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GBenign/Likely benign
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 93300	NM_000540.3(RYR1):c.8589T>C (p.Ser2863=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related myopathy	GBenign FDA Recognized database
Select item 93301	NM_000540.3(RYR1):c.8616+7G>A	LOC126862902, RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +6 more	GBenign/Likely benign

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