C5542154[trait identifier] AND "Baylor Genetics"[submitter] - 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)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GUncertain significance
Select item 178115	NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	RYR2 (R647C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GUncertain significance
Select item 1332608	NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)	RYR2 (F2304S)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 201407	NM_001035.3(RYR2):c.6957_6959del (p.Val2321del)	RYR2 (V2321del)	Deletion (inframe_deletion)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GConflicting classifications of pathogenicity
Select item 691652	NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)	RYR2 (L2592V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 629423	NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)	RYR2 (A3064T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 1480581	NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu)	RYR2 (V3875L)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GLikely pathogenic
Select item 2441802	NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)	RYR2 (L3935F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely pathogenic
Select item 2582328	NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu)	RYR2 (G4711E)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +1 more	GUncertain significance
Select item 2442200	NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)	RYR2 (N4917K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 3238788	NM_001035.3(RYR2):c.14755T>G (p.Leu4919Val)	RYR2 (L4919V)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	GUncertain significance