C1850674[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12988	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1 (R109W)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 12994	NM_000540.3(RYR1):c.1739_1742dup (p.His581fs)	RYR1 (H581fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 190957	NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del)	RYR1	Deletion (inframe_deletion)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 12976	NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	RYR1 (V2168M)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	Hydrops fetalis +8 more	GConflicting classifications of pathogenicity
Select item 133180	NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del)	RYR1 (E2348del)	Microsatellite (inframe_deletion)	desflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 12989	NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)	RYR1 (M2423K)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 12971	NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	RYR1 (R2458C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 29876	NM_000540.2(RYR1):c.[5726_5727delAG;9242T>C]	RYR1 (M3081T +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 12991	NM_000540.3(RYR1):c.10343C>T (p.Ser3448Phe)	RYR1 (S3448F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 65396	NM_000540.2(RYR1):c.[10348-6C>G;14524G>A]	RYR1 (V4842M +1 more)	Single nucleotide variant (intron variant +1 more)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 12983	NM_000540.3(RYR1):c.10579C>T (p.Pro3527Ser)	RYR1 (P3527S +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 2627379	NM_000540.3(RYR1):c.[11941C>T;8342_8343del]	RYR1, LOC126862902 (H3976Y +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 12990	NM_000540.3(RYR1):c.14365-2A>T	RYR1	Single nucleotide variant (splice acceptor variant)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 12984	NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	RYR1 (V4849I +1 more)	Single nucleotide variant (missense variant)	sevoflurane response - Toxicity +6 more	Gdrug response
Select item 12987	NM_000540.2(RYR1):c.14647-1449A>G	RYR1	Single nucleotide variant (intron variant)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 65989	NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)	RYR1 (R4893W +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 12975	NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	RYR1 (I4898T +1 more)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GUncertain significance; drug response FDA Recognized database