"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201210	NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)	RYR2 (A391G)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +6 more	GUncertain significance
Select item 201232	NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)	RYR2 (L943S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 574960	NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)	LOC126806067, RYR2 (Q1293E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 848830	NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr)	LOC126806067, RYR2 (A1311T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 201381	NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)	LOC126806067, RYR2 (A1365V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 179410	NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)	RYR2 (R1414Q)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1021595	NM_001035.3(RYR2):c.6817G>A (p.Gly2273Arg)	RYR2 (G2273R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1762571	NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)	RYR2 (I2746M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 404193	NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)	RYR2 (P2873S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 2501734	NM_001035.3(RYR2):c.9165T>G (p.Ser3055Arg)	RYR2 (S3055R)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GUncertain significance
Select item 201411	NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)	LOC126806068, RYR2 (K4223del)	Deletion (inframe_deletion)	not provided +6 more	GConflicting classifications of pathogenicity