C0751951[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133045	NM_000540.3(RYR1):c.130C>T (p.Arg44Cys)	RYR1 (R44C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 2584942	NM_000540.3(RYR1):c.334C>T (p.His112Tyr)	RYR1 (H112Y)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GUncertain significance
Select item 1339209	NM_000540.3(RYR1):c.1888C>G (p.Leu630Val)	RYR1 (L630V)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 590513	NM_000540.3(RYR1):c.3389G>A (p.Arg1130His)	RYR1 (R1130H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 159843	NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)	RYR1 (G1165D)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 2585509	NM_000540.3(RYR1):c.4582T>A (p.Phe1528Ile)	RYR1 (F1528I)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2585584	NM_000540.3(RYR1):c.6340C>A (p.Pro2114Thr)	RYR1 (P2114T)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 133162	NM_000540.3(RYR1):c.6599C>T (p.Ala2200Val)	RYR1 (A2200V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 1339042	NM_000540.3(RYR1):c.7215-3C>T	RYR1	Single nucleotide variant (intron variant)	Central core myopathy	GUncertain significance
Select item 2138288	NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)	RYR1 (R2985*)	Single nucleotide variant (nonsense)	Central core myopathy +1 more	GPathogenic/Likely pathogenic
Select item 159865	NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)	RYR1 (I3253T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 2585200	NM_000540.3(RYR1):c.11308C>G (p.His3770Asp)	RYR1 (H3770D +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2584884	NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)	RYR1	Deletion (nonsense)	Central core myopathy	GLikely pathogenic
Select item 1339210	NM_000540.3(RYR1):c.13565C>A (p.Pro4522His)	RYR1 (P4517H +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 282726	NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp)	RYR1 (R4564W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2584885	NM_000540.3(RYR1):c.13858G>A (p.Ala4620Thr)	RYR1 (A4620T +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 65951	NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)	RYR1 (H4651P +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GConflicting classifications of pathogenicity
Select item 65986	NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	RYR1 (R4861C +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 2585510	NM_000540.3(RYR1):c.14594A>G (p.Asn4865Ser)	RYR1 (N4860S +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2585627	NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)	RYR1 (M4875K +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 65990	NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)	RYR1 (R4914G +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GPathogenic
Select item 420588	NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)	RYR1 (F4924del +1 more)	Microsatellite (inframe_deletion)	not provided +6 more	GConflicting classifications of pathogenicity

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Items: 22