ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular cardiomyopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (37):

Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Arrhythmogenic right ventricular cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy; Amyloidosis
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome
Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy; Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome
Arrhythmogenic right ventricular dysplasia 1
Arrhythmogenic right ventricular dysplasia 10
Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB
Arrhythmogenic right ventricular dysplasia 11
Arrhythmogenic right ventricular dysplasia 12
Arrhythmogenic right ventricular dysplasia 13
Arrhythmogenic right ventricular dysplasia 1; Rienhoff syndrome
Arrhythmogenic right ventricular dysplasia 2
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
Arrhythmogenic right ventricular dysplasia 5
Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3
Arrhythmogenic right ventricular dysplasia 8
Arrhythmogenic right ventricular dysplasia 9
Arrhythmogenic right ventricular dysplasia, familial, 14
Arrhythmogenic right ventricular dysplasia, familial, 14; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
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
Familial isolated arrhythmogenic right ventricular dysplasia
Naxos disease
Naxos disease; Arrhythmogenic right ventricular dysplasia 12
Naxos disease; non-syndromic arrhythmogenic right ventricular cardiomyopathy
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Atrial fibrillation

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	rs191564916	0.00060
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)	rs776046135	0.00009
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)	rs368336007	0.00007
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)	rs765793636	0.00005
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)	rs786204291	0.00004
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)	rs201015785	0.00003
NM_002230.4(JUP):c.1805G>A (p.Arg602His)	rs909955430	0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn)	rs782392706	0.00001
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr)	rs771808028
NM_001005242.3(PKP2):c.466C>G (p.Pro156Ala)	rs794729102
NM_001035.3(RYR2):c.12365_12367del (p.Ala4122del)	rs1695350400
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)	rs794728799
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg)	rs1402571360
NM_001035.3(RYR2):c.1709-15T>A	rs1663379209
NM_001035.3(RYR2):c.3023C>T (p.Ala1008Val)	rs1232224119
NM_001035.3(RYR2):c.9129G>T (p.Arg3043Ser)	rs1687847434
NM_001943.5(DSG2):c.2836A>G (p.Met946Val)	rs770026700
NM_002230.4(JUP):c.1807G>A (p.Val603Met)	rs200327969
NM_002230.4(JUP):c.73_88del (p.Gly25fs)	rs1916687478
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)	rs1057518818
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys)	rs142331975

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