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:

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
471 448 1686 3938 1786 1 8328

Gene and significance breakdown #

Total genes and gene combinations: 210
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
TTN 64 55 41 1434 404 0 1997
MYBPC3 58 42 102 78 17 0 296
FLNC 4 12 79 131 56 0 282
RYR2 1 14 81 80 56 0 232
LDLR 85 39 30 23 23 0 200
APOB 1 2 61 90 45 0 199
DSP 12 11 68 72 34 0 197
SCN5A 22 23 58 68 23 0 194
MYH7 23 29 62 45 29 0 188
DMD 4 4 38 91 35 0 172
NRAP 0 5 43 57 34 0 139
CACNA1C 3 3 25 63 30 0 124
ALPK3 2 3 26 64 24 0 119
FBN1 35 22 18 23 15 0 113
ACTN2 0 2 45 44 20 0 111
FHOD3 0 2 28 56 25 0 111
RBM20 2 5 35 49 13 0 104
KCNH2 17 17 22 21 15 0 92
DSG2 1 3 28 33 24 0 89
ANK2 0 0 24 35 29 0 88
KCNQ1 30 9 12 20 16 0 87
HCN4 0 0 23 44 16 0 83
PKP2 9 7 20 29 16 0 81
LMNA 13 12 27 14 12 0 78
JPH2 0 0 21 38 13 0 72
TNNT2 6 14 8 25 16 0 69
JUP 0 1 24 26 15 0 66
BAG3 1 6 11 32 10 0 60
PRKAG2 2 2 10 30 16 0 60
TPM1 2 6 13 26 13 0 60
AARS2 1 3 23 22 9 0 58
DES 3 2 21 18 12 0 56
DSC2 1 3 14 23 14 0 55
VCL 0 1 20 22 12 0 55
COL5A1 1 1 7 27 17 0 53
PCSK9 0 0 9 25 18 0 52
MYH6 1 0 33 9 7 0 50
LMF1 0 2 6 14 27 0 49
NEXN 0 1 26 19 3 0 49
PPP1R13L 0 0 12 32 4 0 48
RAF1 1 0 18 23 6 0 48
SLC4A3 0 0 3 26 15 0 44
TNNI3 7 5 11 11 9 0 43
FPGT-TNNI3K, TNNI3K 1 0 16 20 5 0 42
TRDN 0 1 12 16 13 0 42
TRPM4 0 0 3 26 13 0 42
MYLK 0 0 4 20 15 0 39
FKTN 1 0 8 19 10 0 38
MYH11 0 0 1 17 20 0 38
TMEM43 1 0 10 13 13 0 37
COL1A1 0 0 4 16 16 0 36
NKX2-5 0 3 3 21 8 0 35
COL5A2 0 0 2 19 13 0 34
TRIM63 1 3 10 14 6 0 34
MYH11, NDE1 0 0 1 20 12 0 33
COL3A1 3 6 2 12 9 0 32
FLNA 0 1 2 19 10 0 32
LOC101927055, TTN 0 1 0 20 7 0 28
TGFBR2 5 3 4 7 9 0 28
CSRP3 0 1 17 5 4 0 27
FKRP 1 3 2 12 9 0 27
GLA, RPL36A-HNRNPH2 4 5 9 5 3 0 26
SMAD3 0 6 8 9 3 0 26
LAMP2 0 0 4 16 5 0 25
MYPN 0 0 13 1 10 0 24
PLOD1 0 0 3 9 12 0 24
LOC126806432, TTN 0 0 0 17 6 0 23
LPL 5 1 3 5 9 0 23
CBS 0 0 3 10 9 0 22
CDH2 0 0 4 12 6 0 22
PRKG1 0 0 2 10 10 0 22
DOLK 0 0 9 12 0 0 21
LOC126806422, TTN 1 3 0 13 4 0 21
TTR 3 0 6 4 8 0 21
ACTC1, GJD2-DT 0 2 9 7 2 0 20
ELN 0 0 2 13 5 0 20
LOC126806425, TTN 1 1 0 16 2 0 20
LOC126861898, MYH7 6 5 3 5 1 0 20
PTPN11 2 1 4 9 4 0 20
AKAP9 0 0 12 6 1 0 19
LDB3 0 0 12 6 1 0 19
LOC110121269, SCN5A 1 1 7 5 5 0 19
LDLRAP1 0 0 3 9 6 0 18
LOC126806427, TTN 1 1 0 11 5 0 18
LOC126806430, TTN 0 0 0 13 5 0 18
LOC126861897, MHRT, MYH7 1 1 9 3 4 0 18
SKI 0 0 1 6 11 0 18
CASQ2 0 0 8 3 6 0 17
MHRT, MYH7 0 2 5 7 3 0 17
MYL3 1 1 6 7 2 0 17
SGO1 1 0 2 9 5 0 17
SLC2A10 0 0 2 6 9 0 17
TBX5 1 1 2 9 4 0 17
TECRL 0 1 4 9 3 0 17
LOC126806421, TTN 0 0 1 10 5 0 16
LOC126806424, TTN 0 2 1 10 3 0 16
TNNC1 0 0 7 7 2 0 16
KCNJ2 1 2 4 4 4 0 15
CCDC30, PPCS 0 0 3 9 2 0 14
LOC126806068, RYR2 0 2 3 6 3 0 14
TGFBR1 1 2 6 2 3 0 14
EMD 0 2 3 5 3 0 13
GNB5 0 0 1 4 8 0 13
LOC126806423, TTN 0 2 0 9 2 0 13
MYL2 0 2 7 1 3 0 13
TGFB2 0 1 4 6 2 0 13
ABCG8 1 0 1 0 10 0 12
ACTA2 3 1 6 2 0 0 12
LOC126806420, TTN 0 1 0 8 3 0 12
LOC126806428, TTN 0 0 0 10 2 0 12
FHL1 0 0 2 5 4 0 11
LOC126806429, TTN 0 0 0 7 4 0 11
ANKRD1 0 0 7 2 1 0 10
COL5A1, LOC101448202 0 0 2 1 7 0 10
GPIHBP1 0 0 2 3 5 0 10
LOC126806431, TTN 0 0 0 7 3 0 10
PPA2 1 1 0 3 5 0 10
ANK2, LOC126807137 0 0 1 6 2 0 9
LOC126806067, RYR2 0 0 4 5 0 0 9
LOC126806426, TTN 0 1 0 7 1 0 9
LOC126806433, TTN 0 0 0 8 1 0 9
LOC129935183, TTN 0 1 0 6 2 0 9
RIT1 0 0 1 5 3 0 9
ANK2, LOC126807136 0 0 2 3 3 0 8
APOA5 1 0 6 0 1 0 8
APOB, LOC106560211 0 1 2 3 2 0 8
FBLN5 0 0 0 5 3 0 8
KCNE1 1 0 1 2 3 1 8
LMNA, LOC126805877 1 1 2 2 2 0 8
SCN10A 0 0 3 0 5 0 8
TGFB3 0 0 2 4 2 0 8
EFEMP2 0 0 1 4 2 0 7
TCAP 0 0 5 1 1 0 7
LOC110121288, SCN10A 0 0 0 0 6 0 6
LOC126861896, MYH6 0 0 2 0 4 0 6
LOX, SRFBP1 0 0 1 4 1 0 6
SMAD4 0 0 1 2 3 0 6
ABCC9 0 0 4 1 0 0 5
ALPK3, LOC111718493 0 0 0 5 0 0 5
CALM3 0 0 1 1 3 0 5
CEP85L, PLN 1 0 4 0 0 0 5
HCN4, LOC105370890, LOC126862173 0 0 2 3 0 0 5
KCNE2, LOC105372791 0 0 1 4 0 0 5
LOC114827851, MYH6 0 0 2 2 1 0 5
LOC126861897, MYH7 0 0 3 2 0 0 5
LOC130057222, TPM1 0 0 2 1 2 0 5
SMAD2 0 1 0 0 4 0 5
CALM2 0 0 0 2 2 0 4
HABP2, NRAP 0 0 2 1 1 0 4
KCNQ1, KCNQ1OT1 1 0 0 1 2 0 4
LOC129999660, PRKAG2 0 0 1 3 0 0 4
SGCD 0 0 4 0 0 0 4
ABCG5, DYNC2LI1 0 0 1 1 1 0 3
CAV3, OXTR 0 0 1 1 1 0 3
CCDC30, LOC129930344, PPCS 0 0 1 1 1 0 3
CETP 0 0 0 1 2 0 3
DSC2, DSCAS 0 0 0 1 2 0 3
FKBP14 1 0 0 1 1 0 3
FLNC, LOC129999273 0 0 0 3 0 0 3
LMF1, LOC130058141 0 0 0 0 3 0 3
LOC112577486, PLOD1 0 0 0 1 2 0 3
LOC114827850, MYL2 0 1 2 0 0 0 3
LOC126805765, NEXN 0 0 1 1 1 0 3
SNTA1 0 0 0 1 2 0 3
APOC2, APOC4-APOC2 0 0 1 0 1 0 2
APOE 2 0 0 0 0 0 2
CCDC30, LOC129930343, PPCS 0 0 0 2 0 0 2
COL1A1, LOC126862586 0 0 0 1 1 0 2
DSG2, LOC130062340 0 0 0 2 0 0 2
EFEMP2, MUS81 0 0 0 1 1 0 2
FBN1, LOC113939944 1 0 0 0 1 0 2
FHOD3, LOC130062385 0 0 1 1 0 0 2
FPGT-TNNI3K, LRRC53, TNNI3K 1 0 0 1 0 0 2
KCNJ5 0 0 1 0 1 0 2
LMNA, LOC129931597 0 0 0 0 2 0 2
LOC129935182, TTN 0 0 0 2 0 0 2
LOC129935184, TTN 0 0 1 1 0 0 2
LOC129935186, TTN 0 0 2 0 0 0 2
LOC130004109, VCL 0 0 0 2 0 0 2
SCN1B 0 0 1 0 1 0 2
TAFAZZIN 0 0 2 0 0 0 2
ABCG5 0 0 0 0 1 0 1
ABCG5, ABCG8 0 0 0 0 1 0 1
APOA5, LOC108491825 0 0 0 0 1 0 1
APOB, APOB3'MAR 0 0 0 1 0 0 1
CACNA2D1 0 0 0 1 0 0 1
CAV3 0 0 0 1 0 0 1
CERNA1, GNB5 0 0 0 1 0 0 1
CETP, LOC130059064 0 0 0 0 1 0 1
COL2A1 0 0 1 0 0 0 1
DSC2, DSG2 0 0 1 0 0 0 1
FBN1, LOC126862124 0 0 0 1 0 0 1
FLNA, LOC107988032 0 0 1 0 0 0 1
GNB5, LOC130057083 0 1 0 0 0 0 1
KCND3 0 0 0 1 0 0 1
LAMA4 0 0 1 0 0 0 1
LDB3, LOC110121486 0 0 1 0 0 0 1
LDLR, MIR6886 1 0 0 0 0 0 1
LOC126806791, MYLK 0 0 0 0 1 0 1
LOC126806792, MYLK 0 0 1 0 0 0 1
LOC129935185, TTN 0 0 0 0 1 0 1
LOC129999659, PRKAG2 0 0 0 1 0 0 1
LOC130002223, TGFBR1 0 0 0 1 0 0 1
LOC130007664, PKP2 0 0 0 0 1 0 1
LOC130065680, SNTA1 0 0 1 0 0 0 1
MIR208B, MYH7 0 1 0 0 0 0 1
MKRN2, RAF1 0 0 0 0 1 0 1
MYOZ2 0 0 1 0 0 0 1
NOS1AP 0 0 1 0 0 0 1
RANGRF, SLC25A35 0 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
not specified 0 0 34 3881 1760 0 5675
Cardiovascular phenotype 301 317 1301 0 0 0 1919
not provided 33 29 62 50 21 1 196
Dyslipidemia 72 30 23 0 0 0 125
Primary familial hypertrophic cardiomyopathy 12 14 55 1 0 0 82
Primary familial dilated cardiomyopathy 13 15 50 0 0 0 78
Dilated cardiomyopathy 1A 10 2 26 2 0 0 40
Hypertrophic cardiomyopathy 1 3 4 30 0 0 0 37
Long QT syndrome 8 6 14 1 1 0 30
Conduction disorder of the heart 0 5 19 2 0 0 26
Hypercholesterolemia, familial, 1 9 4 8 0 0 0 21
Arrhythmogenic right ventricular cardiomyopathy 2 2 13 0 2 0 19
Long QT syndrome 1 4 2 11 0 1 0 18
Marfan syndrome 3 10 2 0 0 0 15
Left ventricular noncompaction 2 0 9 0 1 0 12
Brugada syndrome 1 2 5 0 0 0 8
Left ventricular noncompaction 1 0 0 7 0 0 0 7
Arrhythmogenic right ventricular dysplasia 1 0 2 3 1 0 0 6
Brugada syndrome 1 1 2 2 0 0 0 5
Loeys-Dietz syndrome 1 0 2 3 0 0 0 5
Aortic aneurysm, familial thoracic 6 0 0 4 0 0 0 4
Andersen Tawil syndrome 1 1 0 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 0 0 2 0 0 0 2
Hypercholesterolemia, autosomal dominant, 3 0 0 2 0 0 0 2
Hypercholesterolemia, autosomal dominant, type B 0 1 1 0 0 0 2
Loeys-Dietz syndrome 2 2 0 0 0 0 0 2
Ehlers-Danlos syndrome, type 4 1 0 0 0 0 0 1
Hyperlipoproteinemia, type I 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy 4 1 0 0 0 0 0 1

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