C1850674[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1678617	NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)	RYR1 (T214A)	Single nucleotide variant (missense variant)	Central core myopathy +4 more	GUncertain significance
Select item 133103	NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	RYR1 (R533H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
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 496666	NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)	RYR1 (G774R)	Single nucleotide variant (missense variant)	Central core myopathy +8 more	GUncertain significance
Select item 93269	NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	RYR1 (K1393R)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 159851	NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	RYR1 (I1571V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 133175	NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	RYR1 (N2342S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
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 201158	NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)	RYR1 (V3088M)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 568062	NM_000540.3(RYR1):c.9772G>A (p.Glu3258Lys)	RYR1 (E3258K)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +7 more	GUncertain significance
Select item 132990	NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	RYR1 (R3366H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 133021	NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	RYR1 (Y3928C)	Single nucleotide variant (missense variant)	RYR1-related myopathy +8 more	GConflicting classifications of pathogenicity
Select item 590394	NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)	RYR1 (M4022fs +1 more)	Duplication (frameshift variant)	RYR1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 590432	NM_000540.3(RYR1):c.13484C>T (p.Pro4495Leu)	RYR1 (P4495L +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GUncertain significance
Select item 133098	NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	RYR1 (P4973L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database