ClinVar Miner

Variants from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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 total
402 550 3341 2342 1741 8375

Gene and significance breakdown #

Total genes and gene combinations: 154
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 24 101 598 568 510 1801
MYBPC3 79 74 198 76 24 451
BRCA2 65 28 143 140 43 418
FBN1 35 73 112 52 33 305
MYH7 28 32 146 61 13 280
NOTCH1 0 0 80 80 59 219
BRCA1 39 11 53 70 15 188
ATM 7 3 74 56 31 171
DSP 4 17 70 43 35 169
RYR2 2 3 73 34 46 158
MYLK 0 1 58 42 31 132
ACTN2 0 0 60 32 24 116
FLNC 2 5 42 24 43 116
PMS2 3 3 53 46 10 115
MSH6 4 3 41 52 12 112
RBM20 1 1 54 28 28 112
MYH6 0 0 34 40 36 110
MYH11 0 0 39 36 21 96
MSH2 0 0 38 37 17 92
ATM, C11orf65 11 11 33 29 7 91
PKP2 12 15 26 19 19 91
DSG2 0 5 36 12 31 84
PALB2 13 5 30 27 7 82
COL3A1 0 9 35 15 22 81
MLH1 2 0 25 42 11 80
BRIP1 1 5 37 30 6 79
NEXN 0 1 52 12 14 79
TNNT2 7 7 42 16 5 77
CDH1 0 0 23 43 9 75
MYH11, NDE1 0 1 30 15 29 75
LDB3 0 0 34 14 20 68
LAMA4 0 0 27 17 22 66
CHEK2 6 10 36 11 2 65
PRKAG2 1 0 29 14 19 63
VCL 0 0 34 10 16 60
DSC2 0 2 26 13 16 57
SCN5A 0 1 18 10 23 52
TPM1 2 4 34 9 3 52
JUP 0 1 24 14 12 51
LMNA 3 8 24 7 9 51
ABCC9 0 0 19 14 17 50
TNNI3 6 9 24 8 3 50
SMAD3 2 13 16 12 4 47
STK11 0 0 22 22 3 47
TGFBR2 1 2 23 11 10 47
SLC2A10 1 3 17 7 17 45
TP53 3 5 14 15 5 42
CSRP3 1 3 23 9 4 40
DES 1 2 20 7 10 40
LOC126861898, MYH7 6 9 14 9 0 38
TGFBR1 1 2 18 10 7 38
ACTC1, GJD2-DT 1 1 17 17 1 37
MYLK2 0 0 13 7 15 35
LOC126861897, MHRT, MYH7 1 1 20 10 2 34
ROBO4 0 0 7 1 26 34
LOC101927055, TTN 0 2 10 8 13 33
MYL2 1 4 13 8 6 32
RAD51C 1 4 11 8 8 32
BARD1 0 0 16 14 1 31
MYL3 0 5 12 9 4 30
CASQ2 0 0 14 5 9 28
TTR 2 0 15 5 6 28
PTEN 0 1 10 10 6 27
TGFB2 1 3 14 3 6 27
TMEM43 1 0 10 9 7 27
BRCA1, LOC126862571 7 3 6 8 2 26
RAD51D, RAD51L3-RFFL 0 3 13 8 2 26
LOC126806422, TTN 0 2 9 6 8 25
TNNC1 0 1 15 6 2 24
BAG3 0 0 7 7 9 23
LAMP2 1 1 12 5 4 23
CAV3, OXTR 0 0 12 3 7 22
GLA, RPL36A-HNRNPH2 3 2 10 5 2 22
LOC126806424, TTN 1 1 7 8 4 21
LOC126806430, TTN 0 0 8 3 10 21
TGFB3 0 4 9 5 3 21
MYOZ2 0 0 9 4 7 20
ACTA2 1 2 11 3 2 19
LOC126806423, TTN 0 2 7 7 3 19
LOC126806431, TTN 0 0 6 7 6 19
THSD4 0 1 3 3 12 19
LOC114827851, MYH6 0 0 6 4 8 18
LOC126806425, TTN 0 2 3 7 6 18
LOC126806427, TTN 0 0 4 4 10 18
MHRT, MYH7 0 2 13 2 1 18
ANKRD1 0 0 7 3 5 15
LOC126806421, TTN 0 1 4 4 6 15
ABCC9, KCNJ8 0 0 4 6 3 13
EMD 0 0 8 4 1 13
LOC126806433, TTN 0 0 7 6 0 13
TCAP 0 0 7 3 3 13
LOC126806420, TTN 0 0 2 6 4 12
LOC126806428, TTN 0 0 4 2 6 12
CEP85L, PLN 3 1 6 1 0 11
LOC126861896, MYH6 0 0 3 4 4 11
SGCD 0 0 1 4 6 11
C2orf49, FHL2 0 0 3 3 4 10
LOC126806426, TTN 0 0 4 4 2 10
LOX, SRFBP1 0 0 2 5 3 10
FBN1, LOC113939944 1 3 4 0 1 9
LOC110121269, SCN5A 0 0 3 3 3 9
LOC126806429, TTN 0 0 3 3 3 9
PRKG1 0 0 3 0 6 9
SMAD4 0 0 5 3 1 9
CTF1, LOC130058878 0 0 4 3 1 8
FOXE3, LINC01389 0 0 1 1 6 8
LOC114827850, MYL2 0 2 4 1 1 8
LOC129999660, PRKAG2 0 0 7 0 1 8
CRYAB 0 0 4 0 3 7
EFEMP2 0 0 1 2 4 7
FBN1, LOC126862124 1 1 3 1 1 7
LOC126805765, NEXN 0 0 4 2 1 7
LOC126806068, RYR2 0 1 2 3 1 7
LMNA, LOC126805877 1 1 2 0 2 6
LOC129935183, TTN 0 0 0 4 2 6
FHL2 0 0 1 1 3 5
LAMA4, LOC126859766 0 0 3 2 0 5
LOC126806791, MYLK 0 0 3 2 0 5
LOC130004109, VCL 0 0 1 3 1 5
LOC130062899, STK11 0 0 3 1 1 5
TAFAZZIN 1 0 2 2 0 5
CTF1 0 0 1 1 2 4
DSC2, DSCAS 0 0 2 0 2 4
LDB3, LOC110121486 0 2 2 0 0 4
LOC126806067, RYR2 0 0 2 1 1 4
LOC126860794, NOTCH1 0 0 0 3 1 4
LOC126861897, MYH7 0 0 3 1 0 4
LOC129390903, RAD51C 0 2 2 0 0 4
ARIH1 0 0 0 1 2 3
CAV3 0 0 2 1 0 3
DSG2, LOC130062340 0 0 2 0 1 3
FLNC, LOC129999273 0 0 1 2 0 3
LMNA, LOC129931597 0 0 2 0 1 3
LOC129935182, TTN 0 0 2 0 1 3
CASQ2, VANGL1 0 0 0 0 2 2
FBN1, LOC130057019 0 0 1 0 1 2
LOC129935184, TTN 0 0 1 0 1 2
LOC130002223, TGFBR1 0 0 2 0 0 2
SMAD2 0 0 0 0 2 2
ADSS1, AHNAK2, AKT1, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDCA4, CEP170B, CKB, CLBA1, COA8, CRIP1, CRIP2, EIF5, GPR132, IGH, IGHA1, IGHA2, IGHD, IGHD3-3, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHM, IGHV3-23, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MTA1, NUDT14, PACS2, PLD4, PPP1R13B, RD3L, SIVA1, TDRD9, TEDC1, TEX22, TMEM121, TMEM179, TRMT61A, XRCC3, ZBTB42, ZFYVE21 1 0 0 0 0 1
COL3A1, LOC126806446 0 0 0 0 1 1
DNAAF3, TNNI3 0 0 0 0 1 1
DNAAF3, TNNI3, TNNT1 0 0 1 0 0 1
DNASE1L1, TAFAZZIN 0 0 1 0 0 1
EFEMP2, MUS81 0 0 0 0 1 1
FBXO11, MSH6 0 0 0 0 1 1
HOXB13 0 1 0 0 0 1
LDB3, LOC130004243 0 0 1 0 0 1
LOC126806792, MYLK 0 0 1 0 0 1
LOC129936399, TGFBR2 0 0 1 0 0 1
LOC130003020, NOTCH1 0 0 1 0 0 1
LOC130057352, SMAD3 0 0 1 0 0 1
LOC130061310, RAD51C 0 0 0 1 0 1
MIR208B, MYH7 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cardiomyopathy 195 334 2156 1358 1230 5273
Breast and/or ovarian cancer 160 97 681 668 195 1801
Familial thoracic aortic aneurysm and aortic dissection 44 118 501 313 312 1288
Hereditary breast ovarian cancer syndrome 8 0 2 0 0 10
not specified 0 0 1 3 4 8
Breast-ovarian cancer, familial, susceptibility to, 1 0 1 0 0 0 1
not provided 1 0 0 0 0 1

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