ClinVar Miner

Variants from Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego

Location: United States  Primary collection method: clinical testing
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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
26 26 148 308 213 721

Gene and significance breakdown #

Total genes and gene combinations: 113
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 6 3 40 98 74 221
DSP 0 3 8 9 5 25
ANK2 0 0 8 8 5 21
MYBPC3 5 1 3 8 3 20
AKAP9 0 0 0 10 9 19
RBM20 1 0 4 6 5 16
DSG2 0 2 4 3 6 15
DMD 0 0 1 4 9 14
TRPM4 0 0 3 8 3 14
MYH6 0 1 2 7 3 13
RYR2 0 0 8 3 1 12
CACNA1C 0 0 5 4 2 11
HCN4 0 0 4 2 5 11
MYPN 0 0 1 9 1 11
PKP2 2 0 0 6 3 11
GAA 0 0 0 6 4 10
LAMA4 0 0 2 6 1 9
SCN5A 1 1 2 4 1 9
BAG3 0 0 2 2 4 8
CACNB2 0 0 1 5 1 7
LDB3 0 0 2 4 1 7
LMNA 2 1 1 1 1 6
LOC126806430, TTN 0 0 0 2 4 6
ABCC9 0 0 0 3 2 5
ACTN2 0 0 2 3 0 5
CALR3 0 0 1 2 2 5
DSC2 0 0 1 4 0 5
JUP 0 0 0 1 4 5
KCNE1 0 1 2 0 2 5
KCNQ1 2 0 0 2 1 5
LOC101927055, TTN 0 0 0 3 2 5
MYLK2 0 0 3 2 0 5
TMPO 0 0 0 4 1 5
TPM1 0 3 2 0 0 5
TTR 2 0 1 2 0 5
ANKRD1 0 0 0 1 3 4
JPH2 0 0 1 2 1 4
LOC126806422, TTN 0 0 2 0 2 4
LOC126806427, TTN 0 1 0 0 3 4
LOC126806429, TTN 0 0 0 2 2 4
MYH7 2 0 1 1 0 4
MYL2 0 0 3 0 1 4
MYOT, PKD2L2-DT 0 0 1 3 0 4
PTPN11 0 1 1 2 0 4
SGCA 0 0 0 3 1 4
SOS1 0 0 1 1 2 4
TCAP 0 1 1 1 1 4
TGFB3 0 0 1 3 0 4
VCL 0 0 1 2 1 4
ANK2, LOC126807137 0 0 0 2 1 3
BRAF 0 0 1 1 1 3
FKTN 0 0 0 2 1 3
LOC110121269, SCN5A 0 0 1 2 0 3
LOC126806425, TTN 0 0 0 2 1 3
NEXN 0 0 1 1 1 3
PRKAG2 1 0 1 1 0 3
SNTA1 0 1 0 1 1 3
TMEM43 0 0 1 0 2 3
TNNI3 1 0 0 1 1 3
AKAP9, LOC121175350 0 0 1 1 0 2
CASQ2 0 0 0 2 0 2
CAV3, OXTR 0 0 0 1 1 2
DES 0 2 0 0 0 2
DTNA 0 0 0 1 1 2
EMD 0 0 1 0 1 2
EYA4 0 0 0 1 1 2
FKRP 0 0 0 0 2 2
GLA, RPL36A-HNRNPH2 0 0 1 1 0 2
GPD1L 0 0 0 2 0 2
KCNJ5 0 0 0 1 1 2
KCNJ8 0 0 0 2 0 2
LAMA4, LOC126859766 0 0 1 0 1 2
LOC114827851, MYH6 0 0 0 0 2 2
LOC126806420, TTN 0 0 1 1 0 2
LOC126806423, TTN 0 1 0 1 0 2
LOC126806424, TTN 0 0 0 2 0 2
LOC126806426, TTN 0 0 0 0 2 2
LOC126806431, TTN 0 0 0 1 1 2
LOC126861896, MYH6 0 0 0 0 2 2
LOC126861898, MYH7 0 0 2 0 0 2
MYOZ2 0 0 0 1 1 2
PDLIM3 0 0 0 1 1 2
SLC25A4 0 0 2 0 0 2
TNNT2 0 1 0 1 0 2
ACTC1, GJD2-DT 0 0 0 1 0 1
CEP85L, PLN 0 1 0 0 0 1
COX15 0 0 1 0 0 1
CRYAB 0 0 0 1 0 1
CTF1 0 0 0 1 0 1
CTF1, LOC130058878 0 0 0 1 0 1
FXN, LOC130001862 0 0 1 0 0 1
HCN4, LOC105370890, LOC126862173 0 0 0 1 0 1
ILK, LOC130005201 0 0 0 1 0 1
KCND3 0 0 0 0 1 1
KCNE3, LIPT2 0 0 0 1 0 1
KCNH2 0 0 0 1 0 1
KCNJ2 0 0 1 0 0 1
LAMP2 0 0 0 0 1 1
LDB3, LOC110121486 0 0 0 0 1 1
LOC114827850, MYL2 0 1 0 0 0 1
LOC126805765, NEXN 0 0 1 0 0 1
LOC126806421, TTN 0 0 1 0 0 1
LOC126807246, PDLIM3 0 0 0 1 0 1
LOC126861897, MHRT, MYH7 0 0 1 0 0 1
MAP2K2 0 0 0 0 1 1
MHRT, MYH7 0 0 0 0 1 1
MYL3 0 0 0 1 0 1
NKX2-5 0 0 1 0 0 1
RAF1 1 0 0 0 0 1
SCN3B 0 0 0 1 0 1
SGCB 0 0 0 1 0 1
SGCD 0 0 1 0 0 1
SGCG 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 77
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cardiomyopathy 3 9 50 104 53 219
Hypertrophic cardiomyopathy 6 4 28 51 16 105
Primary dilated cardiomyopathy 8 6 10 29 43 96
Arrhythmogenic right ventricular cardiomyopathy 2 3 11 19 5 40
Ventricular tachycardia 1 2 15 15 0 33
Long QT syndrome 2 0 7 9 10 28
Heart failure 0 0 0 12 1 13
Brugada syndrome 1 0 6 3 2 12
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 1 1 10 12
Atrial fibrillation 0 0 3 5 3 11
Primary dilated cardiomyopathy; Cardiomyopathy 0 0 0 6 5 11
Congestive heart failure 0 0 3 6 1 10
Restrictive cardiomyopathy 1 0 2 3 2 8
Cardiomyopathy; Long QT syndrome 0 0 0 2 5 7
Familial amyloid neuropathy 1 0 0 4 2 7
Sudden cardiac arrest 0 0 3 2 2 7
Ventricular fibrillation 0 0 1 5 1 7
Premature ventricular contraction 0 0 2 3 1 6
Cardiomyopathy; Ventricular tachycardia 0 0 0 1 4 5
Supraventricular tachycardia 0 0 1 3 1 5
Cardiomyopathy; Ventricular fibrillation 0 0 0 0 4 4
Restrictive cardiomyopathy; Cardiomyopathy 0 0 1 1 2 4
Long QT syndrome; Hypertrophic cardiomyopathy 1 0 0 1 1 3
Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy 0 0 0 0 2 2
Atrial fibrillation; Cardiomyopathy 0 0 0 1 1 2
Cardiomyopathy; Long QT syndrome; Heart failure 0 0 0 0 2 2
Cardiomyopathy; Long QT syndrome; Hypertrophic cardiomyopathy 0 0 0 1 1 2
Cardiomyopathy; Supraventricular tachycardia 0 0 0 2 0 2
Cardiomyopathy; Systolic heart failure 0 0 0 0 2 2
Catecholaminergic polymorphic ventricular tachycardia 0 0 1 1 0 2
Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 2 2
Family history of cardiomyopathy 0 0 1 0 1 2
Family history of sudden cardiac death 0 0 1 1 0 2
Hypertrophic cardiomyopathy; Supraventricular tachycardia 0 0 0 0 2 2
Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 2 2
Primary dilated cardiomyopathy; Heart failure 0 0 0 2 0 2
Primary dilated cardiomyopathy; Long QT syndrome 0 0 0 1 1 2
Amyloidosis 0 0 0 1 0 1
Arrhythmogenic right ventricular cardiomyopathy; Amyloidosis 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome 0 0 0 0 1 1
Atrial fibrillation; Brugada syndrome; Congestive heart failure; Hypertrophic cardiomyopathy 0 0 0 1 0 1
Atrial fibrillation; Cardiomyopathy; Heart failure; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Atrial fibrillation; Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 1
Atrial fibrillation; Congestive heart failure; Ventricular tachycardia 0 0 0 0 1 1
Atrial fibrillation; Long QT syndrome 0 1 0 0 0 1
Atrial fibrillation; Ventricular tachycardia 0 0 0 0 1 1
Brugada syndrome; Premature ventricular contraction 0 0 0 0 1 1
Brugada syndrome; Supraventricular tachycardia; Ventricular tachycardia 0 0 0 0 1 1
Cardiomyopathy; Brugada syndrome 0 0 0 1 0 1
Cardiomyopathy; Congestive heart failure; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 1
Cardiomyopathy; Long QT syndrome; Ventricular tachycardia 0 0 0 1 0 1
Cardiomyopathy; Premature ventricular contraction 0 0 1 0 0 1
Congestive heart failure; Hypertrophic cardiomyopathy 0 0 0 1 0 1
Congestive heart failure; Ventricular tachycardia 0 0 0 1 0 1
Familial amyloid neuropathy; Cardiomyopathy 0 0 0 0 1 1
Hypertrophic cardiomyopathy; Systolic heart failure 0 0 0 0 1 1
Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 1 0 1
Hypertrophic cardiomyopathy; Ventricular tachycardia; Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 1 1
Long QT syndrome; Brugada syndrome 0 0 0 1 0 1
Long QT syndrome; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 1
Primary dilated cardiomyopathy; Amyloidosis 0 0 0 0 1 1
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 0 0 0 1 0 1
Primary dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Atrial fibrillation 0 0 0 0 1 1
Primary dilated cardiomyopathy; Atrial fibrillation 0 0 0 0 1 1
Primary dilated cardiomyopathy; Brugada syndrome 0 0 0 1 0 1
Primary dilated cardiomyopathy; Cardiomyopathy; Heart failure 0 0 0 1 0 1
Primary dilated cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy; Supraventricular tachycardia; Ventricular tachycardia 0 0 0 0 1 1
Primary dilated cardiomyopathy; Premature ventricular contraction 0 0 0 1 0 1
Primary dilated cardiomyopathy; Systolic heart failure 0 0 0 0 1 1
Primary dilated cardiomyopathy; Ventricular tachycardia 0 0 0 1 0 1
Primary familial dilated cardiomyopathy; Peripheral neuropathy 0 1 0 0 0 1
Restrictive cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Restrictive cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 1
Systolic heart failure 0 0 0 1 0 1

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