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:
ClinVar version:

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 49 183 23 16 346

Gene and significance breakdown #

Total genes and gene combinations: 80
Download table as spreadsheet
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 7 1 0 13
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 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 0 1 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: 49
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypertrophic cardiomyopathy 34 29 85 7 4 159
Hypertrophic cardiomyopathy 1 21 4 29 5 2 61
Sudden unexplained death 2 1 15 4 1 23
Primary dilated cardiomyopathy 1 2 9 0 1 13
Brugada syndrome 2 2 5 1 0 10
Long QT syndrome 3 1 4 1 0 9
Catecholaminergic polymorphic ventricular tachycardia 1 1 2 0 1 5
Left ventricular noncompaction cardiomyopathy 0 0 5 0 0 5
Sudden cardiac arrest 0 0 5 0 0 5
Aborted sudden cardiac death 1 1 2 0 0 4
Arrhythmogenic right ventricular cardiomyopathy 1 1 2 0 0 4
Long QT syndrome 1 0 2 0 1 0 3
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 2 0 1 0 0 3
Brugada syndrome 1 0 0 0 0 2 2
Hypertrophic cardiomyopathy; Sudden unexplained death 1 0 0 1 0 2
Paroxysmal familial ventricular fibrillation 0 0 2 0 0 2
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 1 0 1 0 0 2
Primary dilated cardiomyopathy; Mitochondrial complex I deficiency 0 0 2 0 0 2
Sudden cardiac death; Prolonged QT interval 0 0 2 0 0 2
Wolff-Parkinson-White pattern; Hypertrophic cardiomyopathy 0 2 0 0 0 2
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 1 0 0 1 0 0 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
Brugada syndrome; Sudden unexplained death 0 0 1 0 0 1
Cardiac arrest 0 0 1 0 0 1
Fabry disease 0 1 0 0 0 1
Holt-Oram syndrome; Left ventricular noncompaction cardiomyopathy 1 0 0 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
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
Mitral valve prolapse 0 1 0 0 0 1
Noonan syndrome 1 0 0 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 0 1 1
Primary dilated cardiomyopathy; Sudden cardiac death 0 0 1 0 0 1
Primary dilated cardiomyopathy; Sudden unexplained 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
Sinoatrial node disorder; Brugada syndrome; Sudden cardiac arrest 1 0 0 0 0 1
Sudden cardiac death 0 0 1 0 0 1
Syncope; Paroxysmal atrial fibrillation; Right ventricular dilatation; Ventricular tachycardia; Abnormal left ventricular function 0 0 1 0 0 1
Syncope; Ventricular tachycardia 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.