"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133129	NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)	RYR1 (L13R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 1214005	NM_000540.3(RYR1):c.178G>T (p.Asp60Tyr)	RYR1 (D60Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 12967	NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	RYR1 (R163C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 133029	NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys)	RYR1 (R401C)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 983140	NM_000540.3(RYR1):c.1202G>T (p.Arg401Leu)	RYR1 (R401L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 1691866	NM_000540.3(RYR1):c.1421A>T (p.Gln474Leu)	RYR1 (Q474L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic
Select item 133101	NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	RYR1 (R530H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
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 635268	NM_000540.3(RYR1):c.1841G>A (p.Arg614His)	RYR1 (R614H)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 996809	NM_000540.3(RYR1):c.1951C>T (p.Arg651Ter)	RYR1 (R651*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 983142	NM_000540.3(RYR1):c.3679A>G (p.Ile1227Val)	RYR1 (I1227V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 1329885	NM_000540.3(RYR1):c.5449del (p.Glu1817fs)	RYR1 (E1817fs)	Deletion (frameshift variant)	RYR1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 12977	NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)	RYR1 (T2206M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 133172	NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)	RYR1 (V2280I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic 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 12970	NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	RYR1 (G2434R)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 65980	NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	RYR1 (R2454H)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 654130	NM_000540.3(RYR1):c.7778G>A (p.Arg2593His)	RYR1 (R2593H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 93292	NM_000540.3(RYR1):c.7835+5A>G	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +7 more	GBenign
Select item 982922	NM_000540.3(RYR1):c.7847del (p.Pro2616fs)	RYR1 (P2616fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 590599	NM_000540.3(RYR1):c.7880T>G (p.Val2627Gly)	RYR1 (V2627G)	Single nucleotide variant (missense variant)	Long QT syndrome +7 more	GUncertain significance
Select item 329090	NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	RYR1 (E3212G)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 450330	NM_000540.3(RYR1):c.9703A>C (p.Ser3235Arg)	RYR1 (S3235R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2885872	NM_000540.3(RYR1):c.10450dup (p.Ile3484fs)	RYR1 (I3484fs)	Duplication (frameshift variant +1 more)	Central core myopathy +1 more	GPathogenic/Likely pathogenic
Select item 133012	NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)	RYR1 (R3772Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 982757	NM_000540.3(RYR1):c.11905C>A (p.Gln3969Lys)	RYR1 (Q3964K +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 167624	NM_000540.3(RYR1):c.12283-7C>T	RYR1	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 983125	NM_000540.3(RYR1):c.12568_12576del (p.Glu4190_Ile4192del)	RYR1	Deletion (inframe_deletion)	Central core myopathy +2 more	GUncertain significance
Select item 982923	NM_000540.3(RYR1):c.12747G>C (p.Gln4249His)	RYR1 (Q4244H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
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
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic

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Items: 32