ClinVar Miner

Variants studied for Cardiovascular phenotype

Coded as:
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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
429 308 3415 2709 1547 8403

Gene and significance breakdown #

Total genes and gene combinations: 133
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
TTN 1 62 535 337 325 1260
FBN1 104 54 133 75 23 389
NOTCH1 1 0 115 119 43 278
FBN2 2 5 113 99 39 258
MYBPC3 71 14 93 53 17 246
RYR2 4 6 100 85 40 235
SCN5A 17 19 82 70 22 210
MYH7 16 31 80 58 15 200
ANK2 0 0 71 91 32 194
AKAP9 0 0 76 83 29 188
DSP 13 2 74 64 29 182
MYH6 0 0 83 56 28 167
MYLK 0 0 75 57 32 164
COL5A1 2 1 74 63 23 163
KCNH2 34 14 45 41 12 144
FLNA 1 1 36 68 35 141
CACNA1C 0 0 44 66 25 135
DMD 1 0 53 35 46 135
COL3A1 13 8 58 36 16 131
MYH11 2 0 54 55 14 125
KCNQ1 38 20 31 23 8 120
COL5A2 0 0 55 27 20 102
MYPN 0 0 44 33 22 99
PKP2 19 3 38 18 13 91
MYH11, NDE1 0 0 38 30 20 88
DSG2 1 3 30 28 18 80
HCN4 0 0 28 31 18 77
PLOD1 3 1 30 23 18 75
CBS 8 0 23 35 7 73
LMNA 10 9 25 22 6 72
RBM20 1 0 33 21 16 71
SKI 0 0 23 37 11 71
JUP 0 0 29 25 12 66
ACTN2 0 1 28 25 10 64
MED12 0 0 21 30 13 64
LDB3 0 0 27 21 14 62
DSC2 1 1 37 14 8 61
JPH2 0 0 19 29 10 58
LAMA4 0 0 27 25 6 58
SLC2A10 3 1 24 16 11 55
TRDN 0 0 24 12 18 54
TGFBR1 3 3 30 11 5 52
SMAD3 3 3 25 16 4 51
TXNRD2 0 0 19 19 13 51
MYOM1 0 0 9 8 32 49
NEXN 0 3 28 13 4 48
TGFB3 1 1 27 15 3 47
TRPM4 0 0 15 13 19 47
VCL 0 0 20 14 13 47
PRKG1 1 0 20 18 6 45
BAG3 5 0 14 13 10 42
TMEM43 1 0 23 8 10 42
SNTA1 0 0 18 16 5 39
ABCC9 0 0 15 15 8 38
CACNA2D1 0 0 14 17 7 38
DES 0 0 13 11 13 37
CACNB2, NSUN6 0 0 19 9 8 36
RAF1 1 2 17 12 4 36
TMPO 0 0 12 12 12 36
TNNT2 8 5 15 3 4 35
COL5A1, LOC101448202 0 1 9 15 9 34
PRKAG2 1 0 13 12 8 34
MHRT, MYH7 0 3 19 7 5 33
KCND3 0 0 13 10 8 31
ACTA2 4 3 19 2 1 29
JAG1 0 0 4 13 12 29
NKX2-5 1 0 15 7 6 29
TGFBR2 5 0 7 8 9 29
GATA4 0 0 9 11 7 27
TPM1 1 4 14 5 3 27
GPD1L 0 1 12 9 4 26
TBX5 0 0 10 11 5 26
TGFB2 3 2 14 6 1 26
TBX1 0 0 7 7 10 24
LOC101927055, TTN 0 0 8 3 12 23
TNNI3 4 3 11 3 2 23
FKTN 0 0 8 8 6 22
KCNE1 1 2 9 7 3 22
LAMP2 0 0 10 6 6 22
ANKRD1 0 0 12 6 3 21
CASQ2 1 3 11 3 3 21
SMAD4 0 2 6 13 0 21
KCNJ2 0 2 5 11 2 20
LOC114827851, MYH6 0 0 6 6 8 20
PTPN11 5 0 4 10 1 20
CAV3 0 0 3 12 3 18
CSRP3 0 0 10 5 3 18
MYL3 1 2 8 6 1 18
NEBL 0 0 8 1 9 18
EYA4 0 0 12 3 2 17
LOC110121269, SCN5A 1 0 8 4 4 17
TBX20 0 0 7 6 4 17
GLA, RPL36A-HNRNPH2 3 1 5 6 1 16
TCAP 0 0 8 5 3 16
MYOZ2 0 0 4 4 6 14
SCN3B 0 0 5 6 3 14
MYL2 0 2 5 4 2 13
SCN4B 0 0 9 2 2 13
TTR 1 0 4 4 4 13
KCNJ8 0 0 3 4 5 12
ACTC1, LOC101928174 0 0 9 1 1 11
CACNB2 0 0 8 3 0 11
PDLIM3 0 0 3 1 7 11
SCN1B 0 1 2 4 4 11
CALR3 0 0 2 2 6 10
FXN 0 1 1 6 2 10
CRYAB 0 0 4 2 3 9
KCNE2 0 0 3 4 2 9
FLNA, LOC107988032 0 0 5 2 1 8
LDB3, LOC110121486 0 0 4 1 3 8
EMD 1 0 2 3 1 7
FBN1, LOC113939944 2 1 3 0 1 7
GATAD1 0 0 3 3 1 7
ILK, TAF10 0 0 3 1 3 7
KCNE3 0 0 4 2 1 7
KCNJ5 0 0 1 1 5 7
LOC114827850, MYL2 0 1 5 1 0 7
TNNC1 0 0 3 4 0 7
CAV3, SSUH2 0 0 2 2 2 6
KCNQ1, KCNQ1OT1 2 0 1 1 1 5
SGCD 0 0 0 2 3 5
TAZ 1 0 2 1 1 5
CALM1 0 0 0 4 0 4
CEP85L, PLN 2 0 1 1 0 4
DSC2, DSCAS 0 0 2 1 1 4
LAMA4, LOC101927640 0 0 2 2 0 4
CACNA2D1, LOC101927356 0 0 1 0 2 3
CASQ2, VANGL1 0 0 0 0 3 3
EYA4, TARID 0 0 0 2 1 3
SCN2B 0 0 2 1 0 3
COMT, TXNRD2 0 0 2 0 0 2
DNAAF3, TNNI3 0 0 0 0 2 2
MIR4673, NOTCH1 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 4
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 420 300 3415 2709 1547 8391
Integrated Genetics/Laboratory Corporation of America 26 12 0 0 0 38
Fulgent Genetics 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1

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