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
397 542 3354 2342 1741 8375

Gene and significance breakdown #

Total genes and gene combinations: 151
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 23 101 600 568 510 1802
MYBPC3 79 73 199 76 24 451
BRCA2 65 28 143 140 43 418
FBN1 35 72 113 52 33 305
MYH7 27 31 149 61 13 281
NOTCH1 0 0 80 80 59 219
BRCA1 39 11 53 70 15 188
ATM 7 3 74 56 31 171
DSP 4 16 71 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 13 113
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 10 11 34 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
ABCC9 0 0 23 20 20 63
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 7 25 7 9 51
TNNI3 6 8 25 8 3 50
STK11 0 0 22 22 3 47
TGFBR2 1 2 23 11 10 47
SMAD3 2 12 16 12 4 46
SLC2A10 1 3 17 7 17 45
TP53 3 5 14 15 5 42
CSRP3 0 4 23 9 4 40
DES 1 2 20 7 10 40
LOC126861898, MYH7 5 9 15 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
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 0 4 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
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

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Cardiomyopathy 191 328 2167 1358 1230 5274
Breast and/or ovarian cancer 159 97 682 668 195 1801
Familial thoracic aortic aneurysm and aortic dissection 44 116 502 313 312 1287
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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