ClinVar Miner

List of variants reported as pathogenic for ventricular tachycardia, familial by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (16):

Arrhythmogenic right ventricular dysplasia 2
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1
Arrhythmogenic right ventricular dysplasia 2; Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia
Catecholaminergic polymorphic ventricular tachycardia 1
Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
Catecholaminergic polymorphic ventricular tachycardia 2
Catecholaminergic polymorphic ventricular tachycardia 3
Catecholaminergic polymorphic ventricular tachycardia 4
Catecholaminergic polymorphic ventricular tachycardia 4; Long QT syndrome 14
Catecholaminergic polymorphic ventricular tachycardia 5
Long QT syndrome 16
Ventricular tachycardia, catecholaminergic polymorphic 6

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	rs190140598	0.00001
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	rs121918602

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