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 risk factor other total
124 135 363 122 95 4 1 844

Gene and significance breakdown #

Total genes and gene combinations: 94
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
MYBPC3 25 14 33 12 5 0 0 89
TTN 23 11 3 10 1 0 0 48
MYH7 7 18 18 0 3 0 0 46
MYH6 1 0 26 6 8 0 0 41
DSP 2 2 21 4 7 0 0 36
SCN5A 5 8 11 4 3 0 0 31
LDLR 14 5 6 1 0 0 0 26
PKP2 8 1 9 4 4 0 0 26
RYR2 0 2 17 3 2 0 0 24
FBN1 8 11 2 0 0 0 0 21
KCNH2 2 6 9 0 2 1 0 20
MYPN 0 0 9 1 10 0 0 20
ACTN2 0 2 13 4 0 0 0 19
KCNQ1 6 7 4 0 2 0 0 19
APOB 1 1 10 5 1 0 0 18
DSG2 0 3 7 3 5 0 0 18
RBM20 0 3 8 4 2 0 0 17
TNNT2 5 8 1 1 2 0 0 17
DMD 0 0 8 8 0 0 0 16
LDB3 0 1 8 4 1 0 0 14
LMNA 3 5 5 0 0 0 0 13
BAG3 1 2 6 2 1 0 0 12
ANK2 0 0 9 2 0 0 0 11
AKAP9 0 0 5 4 1 0 0 10
JPH2 0 0 5 3 2 0 0 10
NEXN 0 0 7 1 1 0 0 9
DSC2 0 1 3 2 2 0 0 8
SCN10A 0 0 3 0 5 0 0 8
TPM1 0 2 4 1 1 0 0 8
VCL 0 0 8 0 0 0 0 8
ABCC9 0 0 6 1 0 0 0 7
ANKRD1 0 0 4 2 1 0 0 7
GLA, RPL36A-HNRNPH2 1 3 2 1 0 0 0 7
JUP 0 0 3 1 3 0 0 7
RAF1 0 0 6 1 0 0 0 7
LOC110121288, SCN10A 0 0 0 0 6 0 0 6
TMEM43 1 0 1 2 2 0 0 6
CACNA1C 0 0 4 1 0 0 0 5
CSRP3 0 0 3 2 0 0 0 5
KCNJ2 1 1 3 0 0 0 0 5
LAMP2 0 0 0 5 0 0 0 5
LOC110121269, SCN5A 0 1 3 0 0 1 0 5
PRKAG2 1 0 3 1 0 0 0 5
SMAD3 0 2 1 0 2 0 0 5
TGFBR1 0 1 3 0 1 0 0 5
TNNI3 1 2 0 1 1 0 0 5
ACTC1, LOC101928174 0 1 3 0 0 0 0 4
LOC114827851, MYH6 0 0 1 2 1 0 0 4
MHRT, MYH7 0 2 2 0 0 0 0 4
TCAP 0 0 3 1 0 0 0 4
TGFBR2 3 1 0 0 0 0 0 4
CASQ2 0 0 3 0 0 0 0 3
CAV3 0 0 1 1 1 0 0 3
COL3A1 1 1 1 0 0 0 0 3
MYL2 0 1 2 0 0 0 0 3
MYL3 0 0 3 0 0 0 0 3
SGCD 0 0 3 0 0 0 0 3
TRPM4 0 0 0 3 0 0 0 3
APOB, LOC106560211 0 0 1 0 1 0 0 2
APOE 0 0 0 0 0 2 0 2
DES 0 1 1 0 0 0 0 2
KCNE1 1 0 0 0 0 0 1 2
KCNJ5 0 0 1 0 1 0 0 2
LDLRAP1 0 0 2 0 0 0 0 2
LOC114827850, MYL2 0 1 1 0 0 0 0 2
PAH 1 0 0 0 1 0 0 2
PCSK9 0 0 1 1 0 0 0 2
PTPN11 1 0 0 1 0 0 0 2
TGFB3 0 0 2 0 0 0 0 2
TTR 0 0 1 0 1 0 0 2
ABCG8 0 0 0 0 1 0 0 1
ACTA2 0 1 0 0 0 0 0 1
APOA5 0 0 1 0 0 0 0 1
CACNA2D1 0 0 0 1 0 0 0 1
CAV3, SSUH2 0 0 0 1 0 0 0 1
CEP85L, PLN 0 0 1 0 0 0 0 1
EMD 0 1 0 0 0 0 0 1
FLNC 0 1 0 0 0 0 0 1
HCN4 0 0 1 0 0 0 0 1
KCND3 0 0 0 1 0 0 0 1
KCNE2 0 0 0 1 0 0 0 1
KCNQ1, KCNQ1OT1 1 0 0 0 0 0 0 1
LAMA4 0 0 1 0 0 0 0 1
LDB3, LOC110121486 0 0 1 0 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 0 1
MYLK 0 0 0 1 0 0 0 1
MYOZ2 0 0 1 0 0 0 0 1
NOS1AP 0 0 1 0 0 0 0 1
RANGRF, SLC25A35 0 0 0 1 0 0 0 1
SCN1B 0 0 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 0 0 1
TAZ 0 0 1 0 0 0 0 1
TECRL 0 1 0 0 0 0 0 1
TRDN 0 0 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other total
not provided 37 38 63 58 35 2 1 234
not specified 0 0 59 57 53 0 0 169
Primary familial hypertrophic cardiomyopathy 24 34 87 1 1 0 0 147
Familial dilated cardiomyopathy 21 23 73 1 2 0 0 120
Long QT syndrome 10 11 20 1 1 1 0 44
Arrhythmogenic right ventricular cardiomyopathy 7 6 19 2 2 0 0 36
Left ventricular noncompaction 2 1 13 1 0 1 0 18
Familial hypercholesterolemia 1 12 2 2 0 0 0 0 16
Marfan syndrome 4 8 2 0 0 0 0 14
Brugada syndrome 2 4 5 0 1 0 0 12
Conduction disorder of the heart 1 2 8 1 0 0 0 12
Catecholaminergic polymorphic ventricular tachycardia 0 0 4 0 0 0 0 4
Loeys-Dietz syndrome 1 0 2 2 0 0 0 0 4
Aortic aneurysm, familial thoracic 6 0 1 2 0 0 0 0 3
Familial hypercholesterolemia 2 1 1 1 0 0 0 0 3
Andersen Tawil syndrome 1 1 0 0 0 0 0 2
Familial hypercholesterolemia 3 0 0 2 0 0 0 0 2
Loeys-Dietz syndrome 2 2 0 0 0 0 0 0 2
Cardiomyopathy 0 1 0 0 0 0 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 0 0 0 0 1
Familial hypercholesterolemia 4 0 0 1 0 0 0 0 1
Familial hypertrophic cardiomyopathy 4 1 0 0 0 0 0 0 1
Loeys-Dietz syndrome 0 1 0 0 0 0 0 1

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