ClinVar Miner

Variants from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute

Location: Canada — Primary collection method: clinical testing
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 other total
70 78 203 58 55 1 465

Gene and significance breakdown #

Total genes and gene combinations: 73
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
MYBPC3 14 9 20 10 1 0 54
MYH6 1 0 13 3 8 0 25
TTN 15 5 2 2 1 0 25
MYH7 5 10 9 0 0 0 24
SCN5A 3 5 9 1 0 0 18
DSP 0 1 14 0 2 0 17
RYR2 0 1 13 1 1 0 16
FBN1 6 8 1 0 0 0 15
MYPN 0 0 5 0 10 0 15
PKP2 6 1 4 3 1 0 15
RBM20 0 3 5 4 2 0 14
KCNH2 2 2 8 0 0 0 12
ACTN2 0 2 8 1 0 0 11
LMNA 2 3 4 0 0 0 9
KCNQ1 3 2 2 0 1 0 8
SCN10A 0 0 3 0 5 0 8
TNNT2 4 3 0 1 0 0 8
BAG3 1 1 2 2 1 0 7
DSG2 0 1 4 1 1 0 7
JPH2 0 0 2 3 2 0 7
JUP 0 0 3 1 3 0 7
LDB3 0 1 3 2 1 0 7
LOC110121288, SCN10A 0 0 0 0 6 0 6
TPM1 0 2 4 0 0 0 6
ANKRD1 0 0 3 1 1 0 5
DSC2 0 1 2 2 0 0 5
SMAD3 0 2 1 0 2 0 5
AKAP9 0 0 4 0 0 0 4
ANK2 0 0 4 0 0 0 4
LAMP2 0 0 0 4 0 0 4
NEXN 0 0 3 0 1 0 4
PRKAG2 1 0 2 1 0 0 4
RAF1 0 0 3 1 0 0 4
TGFBR1 0 1 2 0 1 0 4
ABCC9 0 0 3 0 0 0 3
ACTC1, LOC101928174 0 1 2 0 0 0 3
CACNA1C 0 0 2 1 0 0 3
CASQ2 0 0 3 0 0 0 3
COL3A1 1 1 1 0 0 0 3
CSRP3 0 0 2 1 0 0 3
DMD 0 0 1 2 0 0 3
GLA, RPL36A-HNRNPH2 0 0 2 1 0 0 3
KCNJ2 0 0 3 0 0 0 3
LOC110121269, SCN5A 0 1 2 0 0 0 3
MHRT, MYH7 0 2 1 0 0 0 3
MYL2 0 1 2 0 0 0 3
TCAP 0 0 2 1 0 0 3
TGFBR2 2 1 0 0 0 0 3
TNNI3 1 2 0 0 0 0 3
TRPM4 0 0 0 3 0 0 3
VCL 0 0 3 0 0 0 3
CAV3 0 0 0 1 1 0 2
DES 0 1 1 0 0 0 2
KCNJ5 0 0 1 0 1 0 2
LDLR 0 2 0 0 0 0 2
LOC114827851, MYH6 0 0 0 1 1 0 2
PTPN11 1 0 0 1 0 0 2
SGCD 0 0 2 0 0 0 2
TGFB3 0 0 2 0 0 0 2
ACTA2 0 1 0 0 0 0 1
APOB 0 0 0 1 0 0 1
KCNE1 0 0 0 0 0 1 1
KCNQ1, KCNQ1OT1 1 0 0 0 0 0 1
LAMA4 0 0 1 0 0 0 1
LDB3, LOC110121486 0 0 1 0 0 0 1
LOC114827850, MYL2 0 0 1 0 0 0 1
MYL3 0 0 1 0 0 0 1
MYLK 0 0 0 1 0 0 1
MYOZ2 0 0 1 0 0 0 1
NOS1AP 0 0 1 0 0 0 1
TECRL 0 1 0 0 0 0 1
TMEM43 1 0 0 0 0 0 1
TTR 0 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
not specified 0 0 59 57 53 0 169
Primary familial hypertrophic cardiomyopathy 15 19 58 1 0 0 93
not provided 28 32 0 0 0 1 61
Familial dilated cardiomyopathy 9 7 33 0 1 0 50
Long QT syndrome 6 3 18 0 1 0 28
Arrhythmogenic right ventricular cardiomyopathy 3 4 15 0 0 0 22
Marfan syndrome 3 6 1 0 0 0 10
Brugada syndrome 2 3 4 0 0 0 9
Left ventricular noncompaction 0 0 8 0 0 0 8
Catecholaminergic polymorphic ventricular tachycardia 0 0 4 0 0 0 4
Loeys-Dietz syndrome 1 0 2 2 0 0 0 4
Loeys-Dietz syndrome 2 2 0 0 0 0 0 2
Aortic aneurysm, familial thoracic 6 0 1 0 0 0 0 1
Cardiomyopathy 0 1 0 0 0 0 1
Conduction disorder of the heart 0 0 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 0 0 0 1
Familial hypertrophic cardiomyopathy 4 1 0 0 0 0 0 1
Loeys-Dietz syndrome 0 1 0 0 0 0 1

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