"Revvity Omics, Revvity"[submitter] AND "LOC126862902"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1419820	NM_000540.3(RYR1):c.8330A>G (p.Tyr2777Cys)	LOC126862902, RYR1 (Y2777C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1405915	NM_000540.3(RYR1):c.8347G>A (p.Glu2783Lys)	LOC126862902, RYR1 (E2783K)	Single nucleotide variant (missense variant)	RYR1-related myopathy +4 more	GUncertain significance
Select item 1442245	NM_000540.3(RYR1):c.8378C>T (p.Pro2793Leu)	LOC126862902, RYR1 (P2793L)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 1424696	NM_000540.3(RYR1):c.8410A>T (p.Ile2804Phe)	LOC126862902, RYR1 (I2804F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2435594	NM_000540.3(RYR1):c.8430G>A (p.Lys2810=)	LOC126862902, RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 523076	NM_000540.3(RYR1):c.8446A>G (p.Met2816Val)	LOC126862902, RYR1 (M2816V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2435553	NM_000540.3(RYR1):c.8464A>T (p.Thr2822Ser)	LOC126862902, RYR1 (T2822S)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 2435576	NM_000540.3(RYR1):c.8473A>G (p.Lys2825Glu)	LOC126862902, RYR1 (K2825E)	Single nucleotide variant (missense variant)	not provided	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 1078957	NM_000540.3(RYR1):c.8501C>G (p.Thr2834Arg)	LOC126862902, RYR1 (T2834R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2689901	NM_000540.3(RYR1):c.8508G>T (p.Lys2836Asn)	LOC126862902, RYR1 (K2836N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 329081	NM_000540.3(RYR1):c.8554C>T (p.Arg2852Ter)	LOC126862902, RYR1 (R2852*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1323547	NM_000540.3(RYR1):c.8614C>T (p.Gln2872Ter)	LOC126862902, RYR1 (Q2872*)	Single nucleotide variant (nonsense)	not provided	GPathogenic