ClinVar Miner

Variants from Agnes Ginges Centre for Molecular Cardiology,Centenary Institute

Location: Australia — Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
53 24 122 20 12 231

Gene and significance breakdown #

Total genes and gene combinations: 57
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYH7 20 10 19 1 1 51
MYBPC3 20 3 23 1 1 48
RYR2 1 0 7 0 1 9
TNNT2 0 1 6 0 1 8
SCN5A 2 1 3 1 0 7
TTN 0 0 5 2 0 7
DSP 1 1 3 0 1 6
KCNH2 1 1 2 2 0 6
MYH6 1 0 3 1 0 5
ACTC1, LOC101928174 0 1 3 0 0 4
CSRP3 0 0 3 1 0 4
MHRT, MYH7 0 0 3 1 0 4
MYL3 0 2 1 1 0 4
ACTN2 0 0 3 0 0 3
CACNA1C 0 1 2 0 0 3
NEBL 0 0 2 0 1 3
PKP2 2 1 0 0 0 3
PRKAG2 0 0 3 0 0 3
RBM20 0 0 2 0 1 3
TNNI3 1 0 2 0 0 3
TPM1 1 1 1 0 0 3
VCL 0 0 3 0 0 3
AKAP9 0 0 0 0 2 2
ANK2 0 0 1 1 0 2
KCNQ1 1 1 0 0 0 2
LDB3 0 0 1 1 0 2
LMNA 0 0 2 0 0 2
MYPN 0 0 2 0 0 2
ABCC9 0 0 1 0 0 1
CACNB2 0 0 1 0 0 1
CACNB2, NSUN6 0 0 1 0 0 1
CASQ2 0 0 0 1 0 1
CEP85L, PLN 0 0 1 0 0 1
CRYAB 0 0 1 0 0 1
CTF1 0 0 1 0 0 1
DMD 0 0 1 0 0 1
DSG2 0 0 1 0 0 1
GLA, RPL36A-HNRNPH2 0 0 0 1 0 1
KCNA5 0 0 0 0 1 1
KCNE1 0 0 1 0 0 1
KCNE2 0 0 0 0 1 1
KCNJ8 0 0 1 0 0 1
LAMA4 0 0 1 0 0 1
LAMP2 0 0 0 1 0 1
LOC100128979, TPM1 0 0 0 1 0 1
LOC110121269, SCN5A 0 0 1 0 0 1
LOC114827850, MYL2 0 0 0 1 0 1
MYL2 0 0 1 0 0 1
MYLK2 0 0 1 0 0 1
MYOM1 0 0 1 0 0 1
NEXN 0 0 1 0 0 1
PTPN11 1 0 0 0 0 1
RAF1 1 0 0 0 0 1
SCN1B 0 0 0 1 0 1
SGCD 0 0 0 1 0 1
TCAP 0 0 0 0 1 1
TRPM4 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial hypertrophic cardiomyopathy 1 29 10 42 5 2 88
Hypertrophic cardiomyopathy 14 7 44 4 1 70
Sudden unexplained death 0 1 12 4 0 17
Primary dilated cardiomyopathy 1 0 6 0 0 7
Brugada syndrome 2 1 1 1 0 5
Arrhythmogenic right ventricular cardiomyopathy 0 1 2 0 0 3
Brugada syndrome 1 0 0 1 0 2 3
Long QT syndrome 1 0 2 0 1 0 3
Aborted sudden cardiac death 1 0 1 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 0 0 1 2
Long QT syndrome 1 0 0 1 0 2
Sudden cardiac death; Prolonged QT interval 0 0 2 0 0 2
Ventricular fibrillation, idiopathic 0 0 2 0 0 2
Arrhythmogenic right ventricular cardiomyopathy, type 9 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Sudden unexplained death 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Sudden unexplained death 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 1 0 0 1
Brugada syndrome; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 0 1 0 1
Brugada syndrome; Sudden unexplained death 0 0 1 0 0 1
Cardiac arrest 0 0 1 0 0 1
Hypertrophic cardiomyopathy; Aborted sudden cardiac death 0 0 1 0 0 1
Hypertrophic cardiomyopathy; Cardiac arrest 0 0 0 0 1 1
Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 1 0 1
Hypertrophic cardiomyopathy; Sudden unexplained death; Dilated cardiomyopathy 0 0 0 0 1 1
Hypertrophic cardiomyopathy; Wolff-Parkinson-White syndrome 0 1 0 0 0 1
Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 1
Left ventricular noncompaction cardiomyopathy; Aborted sudden cardiac death 0 0 1 0 0 1
Long QT syndrome; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Long QT syndrome; Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 0 1 1
Noonan syndrome 1 0 0 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 0 0 1
Primary dilated cardiomyopathy; Sudden cardiac death 0 0 1 0 0 1
Prolonged QT interval 1 0 0 0 0 1
Prolonged QT interval; Ventricular fibrillation 0 0 0 1 0 1
Right ventricular cardiomyopathy 0 0 1 0 0 1
Ventricular fibrillation 0 0 0 1 0 1
Ventricular tachycardia 0 1 0 0 0 1
unspecified heart condition 0 0 0 0 1 1

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