ClinVar Miner

Variants from Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

Location: Australia  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
75 50 181 23 16 345

Gene and significance breakdown #

Total genes and gene combinations: 80
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MYBPC3 30 11 28 1 2 72
MYH7 20 11 21 1 1 54
RYR2 1 1 11 0 2 15
SCN5A 3 2 6 1 0 12
TNNI3 3 2 7 0 0 12
TNNT2 0 2 9 0 1 12
LOC126861898, MYH7 2 6 2 1 0 11
KCNH2 2 1 4 2 0 9
DSP 1 1 5 0 1 8
CSRP3 0 0 6 1 0 7
PKP2 4 2 1 0 0 7
KCNQ1 2 2 2 0 0 6
MYH6 1 0 3 2 0 6
MYL3 0 1 4 1 0 6
ACTC1, GJD2-DT 0 1 3 0 1 5
RBM20 0 1 3 0 1 5
TTN 0 1 3 1 0 5
ACTN2 0 0 4 0 0 4
CACNA1C 0 1 3 0 0 4
PRKAG2 0 0 4 0 0 4
VCL 0 0 4 0 0 4
LDB3 0 0 1 2 0 3
NEBL 0 0 2 0 1 3
NEXN 0 0 3 0 0 3
TCAP 0 0 2 0 1 3
TPM1 1 1 1 0 0 3
AKAP9 0 0 0 0 2 2
CACNB2 0 0 2 0 0 2
ELAC2 0 0 2 0 0 2
GLA, RPL36A-HNRNPH2 0 1 0 1 0 2
LMNA 1 0 1 0 0 2
LOC126861897, MHRT, MYH7 0 0 1 1 0 2
MHRT, MYH7 0 0 2 0 0 2
MYPN 0 0 2 0 0 2
ABCC9, KCNJ8 0 0 1 0 0 1
ALPK3 0 0 1 0 0 1
ANK2 0 0 0 1 0 1
ANK2, LOC126807137 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, LOC130058878 0 0 1 0 0 1
DES 0 1 0 0 0 1
DMD 0 0 1 0 0 1
DSC2 0 0 1 0 0 1
DSG2 0 0 1 0 0 1
FHOD3 0 0 1 0 0 1
FLNC 0 0 0 0 1 1
HCN4 0 0 1 0 0 1
JUP 0 0 1 0 0 1
KCNA5 0 0 0 0 1 1
KCNE1 0 0 1 0 0 1
KCNE2, LOC105372791 0 0 0 0 1 1
KCNJ2 0 0 1 0 0 1
KCNJ8 0 0 1 0 0 1
LAMA4 0 0 1 0 0 1
LAMP2 0 0 0 1 0 1
LDB3, LOC110121486 0 0 1 0 0 1
LMNA, LOC129931597 0 0 1 0 0 1
LOC110121269, SCN5A 0 1 0 0 0 1
LOC114827850, MYL2 0 0 0 1 0 1
LOC126806423, TTN 0 0 1 0 0 1
LOC126806427, TTN 0 0 1 0 0 1
LOC126861896, MYH6 0 0 1 0 0 1
LOC126861897, MYH7 0 0 1 0 0 1
LOC129935184, TTN 0 0 0 1 0 1
LOC130057222, TPM1 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
NRAP 0 0 1 0 0 1
PRDM16 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
SCN3B 0 0 1 0 0 1
SGCD 0 0 0 1 0 1
TBX5 1 0 0 0 0 1
TMEM43 1 0 0 0 0 1
TRPM4 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 67
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypertrophic cardiomyopathy 1 30 15 38 6 2 91
Hypertrophic cardiomyopathy 14 9 29 3 1 56
Hypertrophic cardiomyopathy 4 10 7 17 0 1 35
Sudden unexplained death 3 1 19 4 1 28
Brugada syndrome 2 2 4 1 0 9
Long QT syndrome 3 1 4 1 0 9
Primary dilated cardiomyopathy 1 0 5 0 1 7
Arrhythmogenic right ventricular cardiomyopathy 1 1 4 0 0 6
Hypertrophic cardiomyopathy 7 2 1 3 0 0 6
Catecholaminergic polymorphic ventricular tachycardia 1 1 2 0 1 5
Hypertrophic cardiomyopathy 11 0 1 3 0 1 5
Sudden cardiac arrest 0 0 5 0 0 5
Hypertrophic cardiomyopathy 2 0 1 3 0 0 4
Hypertrophic cardiomyopathy 6 0 0 4 0 0 4
Hypertrophic cardiomyopathy 8 0 1 2 1 0 4
Hypertrophic cardiomyopathy 9 0 0 3 1 0 4
Left ventricular noncompaction cardiomyopathy 0 0 4 0 0 4
Long QT syndrome 1 1 2 0 1 0 4
Hypertrophic cardiomyopathy 14 0 0 2 1 0 3
Brugada syndrome 1 0 0 0 0 2 2
Combined oxidative phosphorylation defect type 17 0 0 2 0 0 2
Dilated cardiomyopathy 1C 0 0 2 0 0 2
Hypertrophic cardiomyopathy 12 0 0 2 0 0 2
Hypertrophic cardiomyopathy 15 0 0 2 0 0 2
Hypertrophic cardiomyopathy 25 0 0 2 0 0 2
Hypertrophic cardiomyopathy 3 1 1 0 0 0 2
Paroxysmal familial ventricular fibrillation 0 0 2 0 0 2
not provided 0 0 2 0 0 2
Aborted sudden cardiac death 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 1 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 0 0 1
Brugada syndrome; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 0 1 0 1
Conduction system disorder; Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 0 1
Dilated cardiomyopathy 1DD 0 1 0 0 0 1
Dilated cardiomyopathy 1E 0 0 1 0 0 1
Dilated cardiomyopathy 1G 0 0 1 0 0 1
Dilated cardiomyopathy 1I 0 1 0 0 0 1
Dilated cardiomyopathy 1KK 0 0 1 0 0 1
Dilated cardiomyopathy 1S 0 0 1 0 0 1
Fabry disease 0 1 0 0 0 1
Holt-Oram syndrome 1 0 0 0 0 1
Hypertrophic cardiomyopathy 18 0 0 1 0 0 1
Hypertrophic cardiomyopathy 20 0 0 1 0 0 1
Hypertrophic cardiomyopathy 26 0 0 0 0 1 1
Hypertrophic cardiomyopathy; Cardiac arrest 0 0 1 0 0 1
Hypertrophic cardiomyopathy; Cardiac arrest; Sudden unexpected death in epilepsy 0 0 0 0 1 1
Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 1 0 1
Left ventricular noncompaction 8 0 0 1 0 0 1
Long QT syndrome 2 0 0 1 0 0 1
Long QT syndrome 3 0 1 0 0 0 1
Long QT syndrome; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Long QT syndrome; Hypertrophic cardiomyopathy; Sudden unexplained death; Sudden unexpected death in epilepsy 0 0 0 0 1 1
Long QT syndrome; Paroxysmal familial ventricular fibrillation 0 0 0 1 0 1
Mitral valve prolapse 0 1 0 0 0 1
Noonan syndrome 1 0 0 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 1 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 0 1 1
Restrictive cardiomyopathy 0 0 1 0 0 1
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 1 0 0 0 0 1
Sinoatrial node disorder; Brugada syndrome; Cardiac arrest 1 0 0 0 0 1
Sudden cardiac death 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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