"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572642	NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)	RYR1 (N43T)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 569043	NM_000540.3(RYR1):c.958G>A (p.Glu320Lys)	RYR1 (E320K)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 544398	NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	RYR1 (L417P)	Single nucleotide variant (missense variant)	Central core myopathy +7 more	GConflicting classifications of pathogenicity
Select item 523377	NM_000540.3(RYR1):c.1264G>A (p.Gly422Arg)	RYR1 (G422R)	Single nucleotide variant (missense variant)	Myalgia +7 more	GConflicting classifications of pathogenicity
Select item 212099	NM_000540.3(RYR1):c.2505del (p.Pro836fs)	RYR1 (P836fs)	Deletion (frameshift variant)	Central core myopathy +4 more	GPathogenic/Likely pathogenic
Select item 590506	NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln)	RYR1 (R896Q)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GUncertain significance
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 benignFDA Recognized database
Select item 637046	NM_000540.3(RYR1):c.5995del (p.Arg1999fs)	RYR1 (R1999fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic
Select item 656707	NM_000540.3(RYR1):c.6445G>A (p.Val2149Met)	RYR1 (V2149M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 12976	NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)	RYR1 (V2168M)	Single nucleotide variant (missense variant)	halothane response - Toxicity +7 more	GPathogenic; drug responseFDA Recognized database
Select item 1708106	NM_000540.3(RYR1):c.7166A>G (p.Asp2389Gly)	RYR1 (D2389G)	Single nucleotide variant (missense variant)	Central core myopathy +1 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 benignFDA Recognized database
Select item 1708098	NM_000540.3(RYR1):c.11120G>A (p.Arg3707His)	RYR1 (R3702H +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GUncertain significance
Select item 133021	NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	RYR1 (Y3928C)	Single nucleotide variant (missense variant)	RYR1-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 65995	NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)	RYR1 (T4637I +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GPathogenic
Select item 12975	NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	RYR1 (I4898T +1 more)	Single nucleotide variant (missense variant)	halothane response - Toxicity +7 more	GUncertain significance; drug responseFDA Recognized database
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 pathogenicFDA Recognized database
Select item 2506533	GRCh37/hg19 19q13.2(chr19:38987608-38993136)	RYR1	Copy number loss	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic