ClinVar Miner

Variants studied for cardiomyopathy

Included ClinVar conditions (559):
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 likely risk allele risk factor uncertain risk allele other not provided total
7208 9568 57757 50538 6408 3 5 3 5 314 122467

Gene and significance breakdown #

Total genes and gene combinations: 662
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor uncertain risk allele other not provided total
TTN 377 3835 6512 12354 1080 0 0 0 0 31 22562
RYR2 96 125 3287 2859 236 0 0 0 0 10 6125
FLNC 359 144 2103 2110 197 0 0 0 0 5 4754
SYNE1 115 44 2255 1721 393 0 0 0 0 2 4285
DSP 480 182 2120 1910 229 0 0 0 0 4 4258
MYBPC3 718 376 1844 1156 112 0 0 0 0 9 3751
SYNE2 2 5 2120 1281 412 0 0 0 0 4 3581
MYH7 194 351 2010 1192 76 0 0 0 0 7 3432
GAA 492 476 935 1144 88 0 0 0 3 9 2686
PKP2 240 134 1015 600 64 0 0 0 0 0 1865
RBM20 15 23 1006 819 115 0 0 0 0 1 1784
DSG2 96 72 1147 577 57 0 1 0 0 1 1764
ACADVL 330 414 615 734 32 0 0 0 0 2 1757
DSC2 62 38 996 519 43 0 0 0 0 0 1542
MYH6 10 5 851 633 90 0 0 0 0 5 1518
MYOM1 0 1 838 500 96 0 0 0 0 0 1432
DMD 71 25 781 516 98 0 0 0 0 2 1400
ACTN2 8 8 704 650 108 0 0 0 0 1 1336
SOS2 8 7 648 635 99 0 0 0 0 1 1329
LAMA4 1 0 751 442 92 0 0 0 0 0 1238
VCL 3 7 736 474 47 0 0 0 0 8 1213
PRDM16 7 5 626 496 67 0 0 0 0 0 1187
CDKN1C 99 14 570 508 27 0 0 0 0 1 1180
MYPN 39 22 636 445 57 0 0 0 0 1 1160
ABCC9 49 27 572 495 54 0 0 0 0 2 1146
JUP 31 13 653 445 38 0 0 0 0 3 1101
BAG3 101 25 647 317 32 0 0 0 0 0 1074
PRKAG2 22 15 572 473 40 0 0 0 0 1 1024
DES 88 64 567 307 32 0 0 0 0 4 999
TRDN 32 18 427 476 51 0 0 0 0 1 998
TMEM43 4 4 590 348 32 0 0 0 0 1 929
ETFDH 166 201 233 379 21 0 0 0 0 0 897
TNNT2 53 88 488 314 45 0 0 0 0 0 860
NEBL 0 1 504 290 54 0 0 0 0 0 847
CTNNA3 2 1 509 253 52 0 0 0 0 2 811
SPRED1 118 35 398 205 45 0 0 0 0 2 774
LMNA 78 96 422 217 25 3 0 3 0 12 761
TPM1 21 53 420 293 17 0 0 0 0 5 740
ACTC1, GJD2-DT 11 24 392 287 17 0 0 0 0 1 694
SGCA 96 137 195 331 19 0 0 0 0 0 689
TNNI3 57 58 377 227 12 0 1 0 0 0 656
JPH2 7 2 373 219 30 0 0 0 0 1 616
HRAS, LRRC56 25 19 269 257 11 0 0 0 0 1 564
SUN1 0 0 275 216 51 0 0 0 0 0 542
CASQ2 46 18 185 267 24 0 0 0 0 0 532
EMD 82 16 209 238 25 0 0 0 0 0 532
TXNRD2 0 0 271 219 43 0 0 0 0 0 531
SGCD 34 26 210 257 27 0 0 0 0 0 529
SOS1 27 37 330 117 50 0 0 0 0 2 519
EYA4 18 10 294 186 15 0 0 0 0 0 511
MYLK2 0 1 275 211 31 0 0 0 0 0 501
DTNA 2 3 271 202 28 0 0 0 0 0 494
GAREM2, HADHA 68 78 114 271 20 0 0 0 0 0 492
ETFA 43 62 127 272 21 0 0 0 0 0 488
SGCG 74 67 141 182 28 0 0 0 0 0 455
HADHA 58 72 86 256 14 0 0 0 0 0 446
FHL1 71 15 188 156 16 0 0 0 0 1 442
SCN5A 28 27 335 51 41 0 0 0 0 9 442
NEXN 31 11 255 136 23 0 0 0 0 3 427
LOC126861897, MHRT, MYH7 8 20 265 147 8 0 0 0 0 0 423
SGCB 67 57 133 195 7 0 0 0 0 1 422
DOLK 8 3 290 129 9 0 0 0 0 0 419
TAFAZZIN 50 50 166 168 10 0 0 0 0 0 410
MYL3 8 13 274 132 18 0 0 0 0 3 407
CSRP3 33 24 245 106 11 0 0 0 0 1 388
MYL2 13 20 230 139 17 0 0 0 0 2 388
TTR 98 48 130 104 16 0 0 0 0 5 359
ABCC9, KCNJ8 12 6 176 161 11 0 0 0 0 4 357
LOC126861898, MYH7 45 76 189 97 7 0 0 0 0 0 351
PTPN11 88 63 172 42 42 0 0 0 0 17 344
LOC126806068, RYR2 12 13 198 130 8 0 0 0 0 1 334
SDHA 17 38 247 16 18 0 0 0 0 3 333
ILK, TAF10 0 0 179 132 16 0 0 0 0 0 326
PDLIM3 0 0 198 96 18 0 0 0 0 1 312
MHRT, MYH7 11 17 179 124 12 0 0 0 0 0 311
CALR3 1 0 177 106 24 0 0 0 0 0 299
TNNC1 11 7 174 120 7 0 0 0 0 0 299
ETFB 21 33 83 166 9 0 0 0 0 0 294
LIMS2 2 2 165 109 17 0 0 0 0 0 294
LOC101927055, TTN 3 32 70 185 19 0 0 0 0 0 289
TCAP 21 8 181 88 6 0 0 0 0 1 287
PGM1 26 10 116 135 21 0 0 0 0 1 284
EYA4, TARID 6 2 170 95 13 0 0 0 0 0 281
RIT1 29 24 142 106 6 0 0 0 0 1 280
NR0B1 33 5 56 145 37 0 0 0 0 0 268
LZTR1 46 62 143 15 17 0 0 0 0 3 263
FKTN 27 81 139 18 5 0 0 0 0 0 259
BRAF 49 56 113 50 21 0 0 0 0 25 251
LOC126806422, TTN 2 58 56 138 12 0 0 0 0 0 247
GTPBP1, SUN2 0 0 136 93 17 0 0 0 0 0 246
RRAS 0 0 133 103 9 0 0 0 0 0 245
LOC126806423, TTN 6 55 55 126 11 0 0 0 0 0 234
CRYAB 13 4 144 72 9 0 0 0 0 0 233
MYO6 14 9 115 25 52 0 0 0 0 0 215
LOC126806425, TTN 2 51 50 120 16 0 0 0 0 0 214
LOC126806424, TTN 4 43 53 113 9 0 0 0 0 0 205
IDUA 56 81 56 4 14 0 0 0 0 0 200
LOC126806430, TTN 0 12 56 127 18 0 0 0 0 0 197
LDB3 9 2 138 34 26 0 0 0 0 5 195
GJA5 3 0 125 61 4 0 0 0 0 0 192
DM1, DMPK, LOC107075317, LOC109461477 176 0 0 0 12 0 0 0 0 0 187
LOC114827851, MYH6 0 0 105 69 18 0 0 0 0 1 187
RAF1 28 32 111 38 30 0 0 0 0 5 184
LOC126806421, TTN 1 37 49 96 8 0 0 0 0 0 183
LOC126806431, TTN 0 15 40 129 10 0 0 0 0 0 182
MYOZ2 2 1 126 53 15 0 0 0 0 0 182
SUN2 0 0 90 79 13 0 0 0 0 0 182
LOC126861896, MYH6 0 0 114 55 15 0 0 0 0 0 181
PDGFRA 0 0 115 15 52 0 0 0 0 0 179
C2orf49, FHL2 0 0 100 60 14 0 0 0 0 0 172
LOC126806426, TTN 1 36 38 97 4 0 0 0 0 0 170
ZFPM2 4 1 68 61 34 0 0 0 0 0 159
LOC126806067, RYR2 0 1 94 74 7 0 0 0 0 0 158
LOC129935183, TTN 2 13 106 39 6 0 0 0 0 0 158
LOC126806433, TTN 2 24 38 93 3 0 0 0 0 0 155
LOC126806427, TTN 2 30 29 95 12 0 0 0 0 0 154
LOC126806420, TTN 2 35 36 83 10 0 0 0 0 0 153
KRAS 26 22 63 44 5 0 0 0 0 2 151
LOC126806428, TTN 1 12 32 103 9 0 0 0 0 0 144
MAP2K2 10 13 86 22 22 0 0 0 0 4 139
ALPK3 27 34 54 11 14 0 0 0 0 0 136
MAP3K1 9 4 39 54 38 0 0 0 0 0 135
PSEN1 4 2 97 21 6 0 0 0 0 0 129
GBA1, LOC106627981 60 45 21 5 2 0 0 0 0 1 120
CEP85L, PLN 17 6 81 17 2 0 0 0 0 0 114
NRAS 12 9 68 21 7 0 0 0 0 5 113
LOC114827850, MYL2 4 6 70 40 9 0 0 0 0 3 112
LAMP2 7 12 54 32 8 0 0 0 0 0 111
SHOC2 5 7 64 15 28 0 0 0 0 1 108
LOC126806429, TTN 1 4 32 73 8 0 0 0 0 0 106
GATAD1 1 0 51 35 4 0 0 0 0 0 89
KCNQ1 17 13 48 9 1 0 0 0 0 0 88
CHRNG 22 27 40 1 2 0 0 0 0 0 87
DSC2, DSCAS 4 3 56 26 3 0 0 0 0 0 86
ACADVL, LOC130060113 12 13 25 45 4 0 0 0 0 0 85
LOC126859837, SYNE1 3 1 41 38 6 0 0 0 0 0 85
MAP2K1 15 22 37 10 9 0 0 0 0 7 85
DSG2, LOC130062340 4 6 54 27 2 0 0 0 0 0 82
LOC126860469, ZFPM2 0 0 44 23 11 0 0 0 0 0 78
PSEN2 1 0 48 17 14 0 0 0 0 0 78
GJA5, LOC122128420 0 0 56 20 1 0 0 0 0 0 77
LOC129935182, TTN 2 9 51 14 1 0 0 0 0 0 74
LOC129999660, PRKAG2 0 0 38 38 5 0 0 0 0 0 74
IDUA, SLC26A1 12 14 14 32 4 0 0 0 1 0 73
LOC129992585, SGCB 19 13 21 29 0 0 0 0 0 0 73
LOC126861897, MYH7 4 4 49 20 1 0 0 0 0 0 72
NCAPH2, SCO2 16 26 34 3 0 0 0 0 0 0 72
DHH 11 2 39 13 9 0 0 0 0 0 71
GATAD1, LOC129998793 0 0 37 31 2 0 0 0 0 0 69
ANKRD1 0 0 45 15 16 0 0 0 0 1 68
CBL 4 5 34 8 13 0 0 0 0 0 64
ESR1, SYNE1 0 0 37 14 12 0 0 0 0 0 62
ACADVL, DLG4 5 7 31 15 4 0 0 0 0 0 59
LMNA, LOC126805877 5 14 33 11 2 0 0 0 0 1 58
LAMA4, LOC126859766 1 0 30 23 1 0 0 0 0 0 53
NR5A1 27 16 11 0 0 0 0 0 0 0 53
LOC110121269, SCN5A 0 2 42 8 5 0 0 0 0 0 52
TGFB3 3 4 39 8 0 0 0 0 0 0 52
SRY 31 5 13 1 1 0 0 0 0 0 50
CHRNG, TIGD1 2 6 36 3 3 0 0 0 0 1 49
LOC129930668, PGM1 9 0 20 20 1 0 0 0 0 0 49
FHOD3 3 2 43 0 1 0 0 0 0 0 48
LOC129997480, SYNE1 1 0 21 22 3 0 0 0 0 0 44
CAV3, OXTR 2 2 31 5 7 0 0 0 0 0 43
DNASE1L1, LOC130068869, TAFAZZIN 2 4 20 18 1 0 0 0 0 0 43
LOC130004109, VCL 0 0 25 18 2 0 0 0 0 0 41
FHL2 0 0 28 9 5 0 0 0 0 0 40
LOC126805765, NEXN 4 1 22 14 1 0 0 0 0 0 40
SLC25A3 3 0 28 2 6 0 0 0 0 0 39
GLA, RPL36A-HNRNPH2 4 6 16 9 5 0 0 0 0 0 38
MIB1 2 9 17 8 5 0 0 0 0 0 38
EYA4, LOC126859796, TARID 2 0 21 12 2 0 0 0 0 0 37
LOC129993918, MAP3K1 0 0 15 9 15 0 0 0 0 0 37
LOC130066960, TXNRD2 0 0 22 10 3 0 0 0 0 0 35
LOC126859838, SYNE1 1 0 14 19 1 0 0 0 0 0 33
NSD1 21 5 4 2 1 0 0 0 0 0 33
LOC129935184, TTN 1 0 21 13 1 0 0 0 0 1 32
DHX37 6 2 9 1 15 0 0 0 0 0 31
LMNA, LOC129931597 4 5 15 8 1 0 0 0 0 1 31
FLNC, LOC129999273 2 0 12 14 2 0 0 0 0 0 30
LIG4 6 8 16 0 0 0 0 0 0 0 30
COX15 5 18 8 0 2 0 0 0 0 0 29
LOC126807246, PDLIM3 0 0 16 9 4 0 0 0 0 0 29
ACTA1 0 2 18 4 4 0 0 0 0 0 28
LOC130055588, SOS2 0 0 13 15 1 0 0 0 0 0 28
HMGCL 6 3 14 1 2 0 0 0 0 0 26
LOC126860875, NEBL 0 0 13 9 1 0 0 0 0 0 23
LOC126859921, SUN1 0 0 13 8 1 0 0 0 0 0 22
ANK2 0 1 12 5 3 0 0 0 0 0 21
LOC129935185, TTN 0 1 15 5 1 0 0 0 0 0 21
TMEM43, XPC 0 0 0 21 0 0 0 0 0 0 21
DNAAF3, TNNI3 0 1 4 17 5 0 0 0 0 0 20
AKAP9 0 0 5 6 8 0 0 0 0 0 19
LOC132089829, MYPN 1 0 6 11 2 0 0 0 0 0 19
TRIM63 4 2 15 2 0 0 0 0 0 0 19
ILK, LOC130005201 0 0 8 9 1 0 0 0 0 0 18
LDB3, LOC110121486 2 2 13 0 4 0 0 0 0 1 18
TMPO 0 0 8 7 8 0 0 0 0 0 18
TRPM4 0 0 9 6 3 0 0 0 0 0 18
COMT, TXNRD2 0 0 13 4 0 0 0 0 0 0 17
DMPK 5 1 9 0 2 0 0 0 0 0 17
DNASE1L1, TAFAZZIN 3 2 7 6 1 0 0 0 0 0 17
LOC126807392, MAP3K1 0 0 8 3 6 0 0 0 0 0 17
LOC126859836, SYNE1 0 0 7 6 4 0 0 0 0 0 16
MT-ND5 11 2 2 0 0 0 0 0 0 5 16
RPL3L 7 1 9 0 0 0 0 0 0 0 16
LOC129933535, SOS1 0 0 8 6 2 0 0 0 0 0 15
PPP1CB 6 5 2 2 1 0 0 0 0 0 15
CDH2 3 1 8 2 0 0 0 0 0 0 14
MAP2K1, SNAPC5 0 0 12 3 1 0 0 0 0 0 14
CCDC40, GAA 1 1 1 4 7 0 0 0 0 0 13
LOC126806432, TTN 0 0 11 1 1 0 0 0 0 0 13
MT-ND6 6 0 1 0 1 0 1 0 0 9 13
SACS, SGCG 1 0 2 7 3 0 0 0 0 0 13
CTF1, LOC130058878 0 0 7 4 1 0 0 0 0 0 12
LOC130067016, LZTR1 1 3 5 1 2 0 0 0 0 0 12
MT-ND1 9 2 1 0 0 0 0 0 0 9 12
MYH7B 3 6 3 0 0 0 0 0 0 0 12
BRAF, LOC126860202 0 0 9 2 1 0 0 0 0 0 11
CACNA1C 0 1 7 2 1 0 0 0 0 0 11
CACNB2 0 0 7 3 1 0 0 0 0 0 11
HCN4 0 0 6 2 3 0 0 0 0 0 11
LOC129935186, TTN 0 2 3 6 0 0 0 0 0 0 11
MT-ATP6 8 3 2 0 0 0 0 0 0 2 11
MT-CYB 5 0 3 0 2 0 0 0 0 2 11
FLAD1 9 0 0 1 0 0 0 0 0 0 10
HRAS 0 0 10 0 0 0 0 0 0 0 10
KCNH2 1 1 6 2 0 0 0 0 0 0 10
MIR208B, MYH6, MYH7 0 0 10 0 0 0 0 0 0 0 10
LAMA2 0 1 8 0 0 0 0 0 0 0 9
LOC130007664, PKP2 0 0 7 2 0 0 0 0 0 0 9
LOC130055816, SYNE2 0 0 6 0 3 0 0 0 0 0 9
MAPK1 4 3 2 0 0 0 0 0 0 0 9
CBX2 2 0 5 1 0 0 0 0 0 2 8
COA6 3 1 1 1 2 0 0 0 0 0 8
DM1, DMPK, LOC107075317, LOC109461477, LOC129929040 5 0 0 0 3 0 0 0 1 0 8
KLHL24 2 0 6 0 0 0 0 0 0 0 8
LMOD2 4 3 1 0 0 0 0 0 0 0 8
LOC129930669, PGM1 0 0 4 4 0 0 0 0 0 0 8
PLEC 0 0 4 4 0 0 0 0 0 0 8
A2ML1 0 0 6 1 0 0 0 0 0 0 7
AKR1C2 3 0 3 0 1 0 0 0 0 0 7
GBA1 4 0 3 0 0 0 0 0 0 0 7
H19, H19-ICR, MRPL23 1 0 0 0 0 0 0 0 0 6 7
KCNE1 0 1 4 0 2 0 0 0 0 0 7
LOC114827827, NPPA 1 0 4 2 0 0 0 0 0 0 7
LOC124903827, PRDM16 0 0 2 5 0 0 0 0 0 0 7
LOC130005368, RRAS2 5 2 0 0 0 0 0 0 0 0 7
MIR208A, MYH6, MYH7 0 0 7 0 0 0 0 0 0 0 7
PPP1R13L 1 5 2 0 0 0 0 0 0 0 7
RRAS2 2 2 3 0 1 0 0 0 0 0 7
BAG5 3 2 1 0 0 0 0 0 0 0 6
CAP2 3 0 3 0 0 0 0 0 0 0 6
CAV3 1 0 3 2 0 0 0 0 0 0 6
HADHA, HADHB 2 0 1 2 1 0 0 0 0 0 6
KCNQ1, KCNQ1OT1 0 0 4 2 0 0 0 0 0 0 6
KRAS, LOC130007561 0 0 6 0 0 0 0 0 0 0 6
LOC130004755, SHOC2 0 0 6 0 0 0 0 0 0 0 6
MIPEP 1 0 5 0 0 0 0 0 0 0 6
MRAS 3 0 3 0 0 0 0 0 0 0 6
NCAPH2, SCO2, TYMP 0 0 1 1 4 0 0 0 0 0 6
TBX20 1 0 4 1 0 0 0 0 0 0 6
​intergenic 3 0 1 0 1 0 0 0 0 0 5
ACADL 0 0 5 0 0 0 0 0 0 0 5
ACTN2, MT1HL1, MTR, RYR2 0 0 5 0 0 0 0 0 0 0 5
ALPK3, LOC111718493 1 1 2 1 0 0 0 0 0 0 5
CBL, FRA11B, LOC130006894 0 0 5 0 0 0 0 0 0 0 5
CCDC30, PPCS 2 2 1 0 0 0 0 0 0 0 5
CHRND 0 0 3 2 0 0 0 0 0 0 5
CHRND, CHRNG 0 0 1 4 2 0 0 0 0 0 5
CTF1 0 0 1 2 2 0 0 0 0 0 5
DSG2, TTR 0 0 5 0 0 0 0 0 0 0 5
FPGT-TNNI3K, TNNI3K 0 1 4 0 0 0 0 0 0 0 5
GATA4 1 0 1 0 3 0 0 0 0 0 5
GCOM1, MYZAP 5 1 0 0 0 0 0 0 0 0 5
IGF2, INS-IGF2 0 1 4 0 0 0 0 0 0 0 5
LOC130063193, MAP2K2 0 0 5 0 0 0 0 0 0 0 5
MT-ND4 3 1 1 0 0 0 0 0 0 3 5
RHBDF1 0 0 5 0 0 0 0 0 0 0 5
TNNI3, TNNT1 0 0 2 3 0 0 0 0 0 0 5
ACADVL, DVL2 2 4 0 0 0 0 0 0 0 0 4
ANK2, LOC126807137 0 0 2 1 1 0 0 0 0 0 4
CASQ2, VANGL1 0 0 0 0 4 0 0 0 0 0 4
CBL, LOC130006895 0 0 2 1 1 0 0 0 0 0 4
CCDC40, GAA, LOC130061897 0 0 1 3 0 0 0 0 0 0 4
CHRNA1 0 0 2 0 2 0 0 0 0 0 4
DM1, DMPK, LOC107075317 0 0 3 1 0 0 0 0 0 0 4
FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 2 2 0 0 0 0 0 0 0 4
FLII 4 1 0 0 0 0 0 0 0 0 4
GPD1L 0 0 2 2 0 0 0 0 0 0 4
JUP, LOC130060847 0 0 3 0 1 0 0 0 0 0 4
KIF20A 2 1 1 0 0 0 0 0 0 0 4
MIR208B, MYH7 0 0 4 0 0 0 0 0 0 0 4
SPRED2 3 1 0 0 0 0 0 0 0 0 4
TP53 2 2 0 0 0 0 0 0 0 0 4
ACAP3, ACTRT2, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES5, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, PANK4, PEX10, PLCH2, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM278, TMEM52, TNFRSF14, TNFRSF18, TNFRSF4, TTC34, TTLL10, UBE2J2, VWA1 0 0 3 0 0 0 0 0 0 0 3
ACTA1, LOC122152321 0 0 1 0 2 0 0 0 0 0 3
ACTC1 0 0 2 0 1 0 0 0 0 0 3
DES, DES-LCR 0 0 2 1 0 0 0 0 0 0 3
DNMT1 0 0 3 0 0 0 0 0 0 0 3
DOLK, NUP188 0 0 2 0 1 0 0 0 0 0 3
DPP6 0 0 3 0 0 0 0 0 0 0 3
FGFR3 3 0 0 0 0 0 0 0 0 0 3
FKRP 0 0 1 0 2 0 0 0 0 0 3
GPR17, LIMS2 0 0 3 0 0 0 0 0 0 0 3
KCNE2, LOC105372791 0 0 2 0 1 0 0 0 0 0 3
KCNJ5 0 0 1 1 1 0 0 0 0 0 3
LINC00362, LOC130009362, LOC130009363, LOC130009364, LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, LOC132090179, SACS, SGCG 2 0 1 0 0 0 0 0 0 0 3
LOC129931249, NRAS 0 0 2 1 0 0 0 0 0 0 3
LOC129999670, PRKAG2 0 0 2 1 0 0 0 0 0 0 3
LOC130056789, SPRED1 0 0 2 1 0 0 0 0 0 0 3
LOC130057222, TPM1 0 0 1 2 0 0 0 0 0 0 3
MADD, MYBPC3 2 0 1 0 0 0 0 0 0 0 3
MIR208A, MIR208B, MYH6, MYH7 0 0 3 0 0 0 0 0 0 0 3
MKRN2, RAF1 0 0 2 1 1 0 0 0 0 0 3
MT-CO3 3 0 0 0 0 0 0 0 0 1 3
MT-ND2 2 0 1 0 0 0 0 0 0 2 3
MT-TL1 0 0 2 0 0 0 0 0 0 1 3
NKX2-5 1 0 2 0 0 0 0 0 0 0 3
PTPN11, RPL6 0 0 2 1 1 0 0 0 0 0 3
SCO2 0 0 1 1 2 0 0 0 0 0 3
SNTA1 0 0 2 0 1 0 0 0 0 0 3
TBX5 0 1 1 1 0 0 0 0 0 0 3
UQCRFS1 3 0 0 0 0 0 0 0 0 0 3
ABCC9, GOLT1B, GYS2, KCNJ8, LDHB, PYROXD1, RECQL, SPX 0 0 2 0 0 0 0 0 0 0 2
ABCD1, ARHGAP4, AVPR2, DNASE1L1, EMD, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, RPL10, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 1 0 0 0 0 0 0 0 2
AKR1C2, LOC101928051 1 0 0 1 0 0 0 0 0 0 2
AKR1C4 0 0 1 0 0 0 1 0 0 0 2
ATP6V1F, FLNC, IRF5, KCP, TNPO3 1 0 1 0 0 0 0 0 0 0 2
BBIP1, PDCD4, RBM20, SHOC2 0 0 2 0 0 0 0 0 0 0 2
CALM1 0 2 0 0 0 0 0 0 0 0 2
CALR3, LOC125371488 0 0 2 0 0 0 0 0 0 0 2
CASZ1 2 0 0 0 0 0 0 0 0 0 2
CCDC110, PDLIM3 0 0 2 0 0 0 0 0 0 0 2
CCDC30, LOC129930344, PPCS 1 0 1 0 0 0 0 0 0 0 2
CHD7 0 0 2 0 0 0 0 0 0 0 2
CHRM2, LOC349160 0 0 2 0 0 0 0 0 0 0 2
COL1A1 0 0 2 0 0 0 0 0 0 0 2
CORIN 1 1 0 0 0 0 0 0 0 0 2
CREBBP 0 1 0 0 0 0 0 0 0 1 2
CSRP3, IGSF22, LDHA, LDHAL6A, LDHC, MRGPRX1, MRGPRX2, PTPN5, SPTY2D1, TMEM86A, TSG101, UEVLD, ZDHHC13 1 0 1 0 0 0 0 0 0 0 2
CTNNA3, LOC132089820, LOC132089821 0 0 2 0 0 0 0 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929041 0 0 1 1 0 0 0 0 0 0 2
DM1, DMPK, LOC107075317, LOC129929042 0 0 2 0 0 0 0 0 0 0 2
DMRT1 0 1 1 0 0 0 0 0 0 0 2
DNAAF3, LOC130065090, TNNI3 0 0 1 1 0 0 0 0 0 0 2
DNM1L, FGD4, PKP2, YARS2 0 0 2 0 0 0 0 0 0 0 2
DSC1, DSC2, DSG1, DSG2, DSG3, DSG4, TTR 1 0 1 0 0 0 0 0 0 0 2
DSP, LOC110121274 2 0 0 0 0 0 0 0 0 0 2
EMD, FLNA 0 0 2 0 0 0 0 0 0 0 2
EMILIN2, LPIN2, MYOM1, SMCHD1 0 0 2 0 0 0 0 0 0 0 2
ERF 0 1 1 0 0 0 0 0 0 0 2
FAT1 0 2 0 0 0 0 0 0 0 0 2
FNIP1 0 0 2 0 0 0 0 0 0 0 2
GAA, LOC130061897 0 0 2 1 0 0 0 0 0 0 2
GBA2 0 0 2 0 0 0 0 0 0 0 2
GET3 2 0 0 0 0 0 0 0 0 0 2
GTPBP3 0 0 2 0 0 0 0 0 0 0 2
H19-ICR, MRPL23 0 0 0 0 0 0 0 0 0 2 2
HFE 2 0 0 0 0 0 0 0 0 0 2
IFT43, TGFB3 0 0 0 2 0 0 0 0 0 0 2
KCNJ2 0 0 2 0 0 0 0 0 0 0 2
KCNJ8 0 0 0 2 0 0 0 0 0 0 2
KMT2C 0 2 0 0 0 0 0 0 0 0 2
LDB3, LOC130004243 0 0 2 0 0 0 0 0 0 0 2
LOC114827851, LOC126861897, MHRT, MIR208B, MYH6, MYH7 0 0 2 0 0 0 0 0 0 0 2
LOC126807619, LOC129995362, NSD1 2 0 0 0 0 0 0 0 0 0 2
LOC126807619, NSD1 1 1 0 0 0 0 0 0 0 0 2
LOC126861897, MHRT, MIR208B, MYH7 0 2 0 0 0 0 0 0 0 0 2
LOC129390434, PKP2 1 0 1 0 0 0 0 0 0 0 2
LOC129992584, LOC129992585, SGCB 1 0 1 0 0 0 0 0 0 0 2
LOC130004734, RBM20 0 0 2 0 0 0 0 0 0 0 2
LOC130009363, LOC130009364, SGCG 2 0 0 0 0 0 0 0 0 0 2
LOC130056788, SPRED1 0 0 1 0 1 0 0 0 0 0 2
LOC130067861, SCO2 0 0 2 0 0 0 0 0 0 0 2
LOC130067861, SCO2, TYMP 0 0 0 0 2 0 0 0 0 0 2
MIPEP, PCOTH, SACS, SGCG, TNFRSF19 2 0 0 0 0 0 0 0 0 0 2
MIR208A, MYH6 0 0 2 0 0 0 0 0 0 0 2
MT-ND3 1 0 0 0 0 0 0 0 0 1 2
MT-TI 2 1 0 0 0 0 0 0 0 0 2
MT-TY 2 0 0 0 0 0 0 0 0 0 2
MYBPC3, SLC39A13, SPI1 1 0 1 0 0 0 0 0 0 0 2
NRAP 0 1 1 0 0 0 0 0 0 0 2
PIK3CA 1 1 0 0 0 0 0 0 0 0 2
PLN 1 0 1 0 0 0 0 0 0 0 2
PMPCA 2 0 0 0 0 0 0 0 0 0 2
POLG 2 0 0 0 0 0 0 0 0 0 2
RASA2 0 1 1 0 0 0 0 0 0 0 2
SLC25A4 1 0 1 0 0 0 0 0 0 0 2
SLC30A5 0 2 0 0 0 0 0 0 0 0 2
SVIL 0 0 2 0 0 0 0 0 0 0 2
TAF1A 0 0 2 0 0 0 0 0 0 0 2
TET2 0 2 0 0 0 0 0 0 0 0 2
TTC39A 0 0 2 0 0 0 0 0 0 0 2
ABCB6, ANKZF1, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CNOT9, CNPPD1, CRYBA2, CTDSP1, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, IHH, MIR26B, MIR375, NHEJ1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, STK16, STK36, TMBIM1, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 1 0 0 0 0 0 0 0 0 0 1
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 0 0 1 0 0 0 0 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO3, NPIPA5, XYLT1 0 1 0 0 0 0 0 0 0 0 1
ABCD1 0 1 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275 1 0 0 0 0 0 0 0 0 0 1
ABCD1, ARHGAP4, ATP6AP1, AVPR2, BCAP31, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GAB3, GDI1, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, RENBP, RPL10, SLC10A3, SLC6A8, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, UBL4A 1 0 0 0 0 0 0 0 0 0 1
ACADVL, ACAP1, AIPL1, ALOX12, ASGR1, ASGR2, ATP1B2, BACC1, BCL6B, C17orf100, CD68, CHRNB1, CLDN7, CLEC10A, CTDNEP1, DLG4, DVL2, EIF4A1, EIF5A, ELP5, FBXO39, FGF11, FXR2, GABARAP, GPS2, KCTD11, KIAA0753, MED31, MIR195, MIR497HG, MPDU1, NEURL4, NLGN2, PHF23, PIMREG, PITPNM3, PLSCR3, POLR2A, RNASEK, SAT2, SENP3, SHBG, SLC13A5, SLC16A11, SLC16A13, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TEKT1, TMEM102, TMEM256, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TXNDC17, WRAP53, XAF1, YBX2, ZBTB4 0 0 1 0 0 0 0 0 0 0 1
ACADVL, ACAP1, ALOX12B, ALOX15B, ALOXE3, ATP1B2, AURKB, BORCS6, CD68, CHD3, CHRNB1, CLDN7, CNTROB, CTC1, CTDNEP1, CYB5D1, DLG4, DNAH2, DVL2, EFNB3, EIF4A1, EIF5A, ELP5, FGF11, FXR2, GABARAP, GPS2, GUCY2D, HES7, KCNAB3, KCTD11, KDM6B, MPDU1, NAA38, NEURL4, NLGN2, PER1, PFAS, PHF23, PLSCR3, POLR2A, RANGRF, SAT2, SENP3, SHBG, SLC25A35, SLC2A4, SLC35G6, SOX15, SPEM1, SPEM2, TMEM102, TMEM107, TMEM256, TMEM88, TMEM95, TNFSF12, TNFSF12-TNFSF13, TNFSF13, TNK1, TP53, TRAPPC1, TRG-GCC2-6, TRK-TTT3-5, TRL-TAG1-1, TRQ-CTG1-5, TRR-TCT2-1, VAMP2, WRAP53, YBX2, ZBTB4 1 0 0 0 0 0 0 0 0 0 1
ACADVL, ACAP1, CHRNB1, CLDN7, CTDNEP1, DLG4, DVL2, EIF5A, ELP5, FGF11, GABARAP, GPS2, KCTD11, NEURL4, NLGN2, PHF23, PLSCR3, SLC2A4, SPEM1, SPEM2, TMEM102, TMEM256, TMEM95, TNK1, YBX2 1 0 0 0 0 0 0 0 0 0 1
ACADVL, ALOX12, ASGR1, ASGR2, BACC1, BCL6B, CLEC10A, DLG4, FBXO39, MIR195, MIR497HG, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, XAF1 1 0 0 0 0 0 0 0 0 0 1
ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FNDC10, GABRD, GNB1, HES4, HES5, INTS11, ISG15, KCNAB2, KLHL17, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR429, MIR551A, MMEL1, MMP23B, MORN1, MRPL20, MXRA8, NADK, NOC2L, NPHP4, PANK4, PEX10, PLCH2, PLEKHN1, PRDM16, PRKCZ, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SSU72, TAS1R3, TMEM240, TMEM278, TMEM52, TNFRSF14, TNFRSF18, TNFRSF4, TP73, TPRG1L, TTC34, TTLL10, UBE2J2, VWA1, WRAP73 1 0 0 0 0 0 0 0 0 0 1
ACP2, ARFGAP2, CSTPP1, DDB2, LRP4, MADD, MYBPC3, NR1H3, PACSIN3, PSMC3, RAPSN, SLC39A13, SPI1 1 0 0 0 0 0 0 0 0 0 1
ACTC1, GJD2, GOLGA8A, GOLGA8B, LPCAT4, NOP10, NUTM1, SLC12A6 0 0 1 0 0 0 0 0 0 0 1
ACTN2, LOC110121264, LOC110121265, LOC110121266, LOC122152347, LOC129388791, LOC129932885, LOC129932886, MT1HL1, MTR, RYR2 0 0 1 0 0 0 0 0 0 0 1
ADGRG4, BRS3, CD40LG, FHL1, HTATSF1, MAP7D3, VGLL1 1 0 0 0 0 0 0 0 0 0 1
AFF4 0 0 1 0 0 0 0 0 0 0 1
AK4, ALG6, ANGPTL3, ATG4C, C1orf141, CACHD1, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FOXD3, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, MIER1, MIR101-1, NFIA, PATJ, PDE4B, PGM1, RAVER2, ROR1, SGIP1, SLC35D1, TM2D1, UBE2U, USP1 0 0 1 0 0 0 0 0 0 0 1
AKAP9, CYP51A1 0 0 0 0 1 0 0 0 0 0 1
AKAP9, LOC121175350 0 0 0 1 0 0 0 0 0 0 1
AMER1 0 0 1 0 0 0 0 0 0 0 1
ANK2, LOC126807136 0 0 1 0 0 0 0 0 0 0 1
ANKRD37, CCDC110, CFAP96, CFAP97, LOC105377590, LOC121056754, LOC123493248, LOC123493249, LOC123493250, LOC126807246, LOC129993502, LOC129993503, LOC129993504, LOC129993505, LOC129993506, LOC129993507, LOC129993508, LOC129993509, LOC129993510, LOC129993511, LOC129993512, LOC129993513, LOC129993514, LOC129993515, LOC129993516, LOC129993517, LOC129993518, LOC129993519, LOC129993520, LOC129993521, LOC129993522, LOC129993523, LRP2BP, PDLIM3, SLC25A4, SNX25, UFSP2 0 0 1 0 0 0 0 0 0 0 1
ANKRD37, CCDC110, CFAP96, CFAP97, LRP2BP, PDLIM3, SLC25A4, SNX25, UFSP2 0 0 1 0 0 0 0 0 0 0 1
ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST 0 0 1 0 0 0 0 0 0 0 1
ANO9, AP2A2, ASCL2, B4GALNT4, BRSK2, C11orf21, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NLRP6, PGGHG, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PSMD13, PTDSS2, RASSF7, RNH1, RPLP2, SCT, SIGIRR, SIRT3, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4 0 0 1 0 0 0 0 0 0 0 1
ANO9, B4GALNT4, CDHR5, DEAF1, DRD4, EPS8L2, HRAS, IFITM1, IFITM2, IFITM3, IFITM5, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, NLRP6, PGGHG, PHRF1, PKP3, PTDSS2, RASSF7, RNH1, SCT, SIGIRR, TALDO1, TMEM80 1 0 0 0 0 0 0 0 0 0 1
AP3M1, VCL 0 0 1 0 0 0 0 0 0 0 1
APH1B, CA12, FBXL22, HERC1, LACTB, RAB8B, RPS27L, TPM1, USP3 0 0 1 0 0 0 0 0 0 0 1
AR 1 0 0 0 0 0 0 0 0 0 1
ARHGAP4, AVPR2, EMD, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 0 0 1 0 0 0 0 0 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, MEX3A, RAB25, RIT1, RXFP4, SSR2, UBQLN4 0 0 1 0 0 0 0 0 0 0 1
ARID4A 0 1 0 0 0 0 0 0 0 0 1
ARVCF, COMT, GNB1L, RTL10, TANGO2, TBX1, TXNRD2 0 0 1 0 0 0 0 0 0 0 1
ARVCF, COMT, TXNRD2 0 0 1 0 0 0 0 0 0 0 1
ASPA, CTNS, EMC6, HASPIN, ITGAE, P2RX5, SHPK, TAX1BP3, TRPV1, TRPV3 0 0 1 0 0 0 0 0 0 0 1
ATL1, CDKL1, DMAC2L, L2HGDH, MAP4K5, NIN, SAV1, SOS2 0 0 1 0 0 0 0 0 0 0 1
ATM 0 1 0 0 0 0 0 0 0 0 1
ATP1A1, CASQ2, LINC01649, MAB21L3, NHLH2, SLC22A15 0 0 1 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, RPL10, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, RPL10, TAFAZZIN, TEX28, TKTL1 0 0 1 0 0 0 0 0 0 0 1
ATP6AP1, DNASE1L1, FAM3A, FAM50A, G6PD, GDI1, IKBKG, LAGE3, PLXNA3, SLC10A3, TAFAZZIN, UBL4A 0 0 1 0 0 0 0 0 0 0 1
ATP6AP2, BCOR, CASK, CXorf38, DDX3X, EFHC2, GPR34, GPR82, MAOA, MAOB, MED14, MPC1L, NDP, NYX, USP9X 1 0 0 0 0 0 0 0 0 0 1
ATP6V1F, FLNC, KCP 1 0 0 0 0 0 0 0 0 0 1
AURKA 0 1 0 0 0 0 0 0 0 0 1
BAP1 0 1 0 0 0 0 0 0 0 0 1
BARD1 0 1 0 0 0 0 0 0 0 0 1
BCORL1 0 1 0 0 0 0 0 0 0 0 1
BIN1 0 0 1 0 0 0 0 0 0 0 1
BIN1, CYP27C1, ERCC3, GPR17, IWS1, LIMS2, MAP3K2, MYO7B, PROC 0 0 1 0 0 0 0 0 0 0 1
BMP6, DSP, SNRNP48 0 0 1 0 0 0 0 0 0 0 1
BRAF, LOC129999507 0 0 1 0 0 0 0 0 0 0 1
BRCA2 0 1 0 0 0 0 0 0 0 0 1
C10orf71 0 0 1 0 0 0 0 0 0 0 1
C11orf52, CRYAB, DIXDC1, DLAT, HSPB2, NKAPD1, PIH1D2, SDHD, TIMM8B 0 0 1 0 0 0 0 0 0 0 1
C1QTNF9, C1QTNF9B, MIPEP, PCOTH, SACS, SGCG, SPATA13, TNFRSF19 1 0 0 0 0 0 0 0 0 0 1
C2CD4A, C2CD4B, TLN2, TPM1, VPS13C 0 0 1 0 0 0 0 0 0 0 1
CACNA1E 0 0 1 0 0 0 0 0 0 0 1
CASC3, CDC6, CSF3, ERBB2, GRB7, GSDMA, GSDMB, IKZF3, LRRC3C, MED24, MIEN1, MSL1, NR1D1, ORMDL3, PGAP3, PNMT, PSMD3, RAPGEFL1, TCAP, THRA, WIPF2, ZPBP2 0 0 1 0 0 0 0 0 0 0 1
CASR 0 1 0 0 0 0 0 0 0 0 1
CAV3, SSUH2 1 0 0 0 0 0 0 0 0 0 1
CAVIN4 0 0 1 0 0 0 0 0 0 0 1
CCDC141, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 0 0 0 0 1
CCND1 0 0 1 0 0 0 0 0 0 0 1
CD33, CLDND2, ETFB, IGLON5, LIM2, NKG7, SIGLECL1, VSIG10L 1 0 0 0 0 0 0 0 0 0 1
CDHR5, CEND1, DEAF1, DRD4, EPS8L2, GATD1, HRAS, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, PHRF1, PIDD1, PNPLA2, RASSF7, RPLP2, SCT, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 0 0 0 0 0 1
CDKL4, MAP4K3, SOS1 0 0 1 0 0 0 0 0 0 0 1
CDKN2C 0 1 0 0 0 0 0 0 0 0 1
CELSR3 0 0 1 0 0 0 0 0 0 0 1
CHRNG, LOC129935864 0 1 0 0 0 0 0 0 0 0 1
CLASP1, RNU4ATAC 0 0 1 0 0 0 0 0 0 0 1
CLTC 1 0 0 0 0 0 0 0 0 0 1
COA5 1 0 0 0 0 0 0 0 0 0 1
COL1A1, SGCA 0 0 1 0 0 0 0 0 0 0 1
COL5A1 0 0 1 0 0 0 0 0 0 0 1
COMT, GNB1L, LOC110120888, LOC126863098, LOC130066959, LOC130066960, RTL10, TBX1, TXNRD2 0 0 1 0 0 0 0 0 0 0 1
COMT, LOC126863098, LOC130066960, TXNRD2 0 0 1 0 0 0 0 0 0 0 1
COMT, LOC130066960, TXNRD2 0 0 1 0 0 0 0 0 0 0 1
CRADD 1 0 0 0 0 0 0 0 0 0 1
CRBN, TRNT1 0 1 0 0 0 0 0 0 0 0 1
CTNNA3, LOC101928961, LRRTM3 0 0 1 0 0 0 0 0 0 0 1
CTNNA3, LOC126860948, LOC132089819, LOC132089820, LOC132089821 0 0 1 0 0 0 0 0 0 0 1
CTNNA3, LRRTM3 0 0 1 0 0 0 0 0 0 0 1
CTSD, H19, IFITM10, IGF2, INS, INS-IGF2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MRPL23, SYT8, TH, TNNI2, TNNT3 1 0 0 0 0 0 0 0 0 0 1
CYLD 0 1 0 0 0 0 0 0 0 0 1
CYLD, NOD2 0 0 1 0 0 0 0 0 0 0 1
DAP3, GON4L, MSTO1, RIT1, SYT11, YY1AP1 0 0 1 0 0 0 0 0 0 0 1
DCHS1 0 0 1 0 0 0 0 0 0 0 1
DES, LOC110121267 1 0 0 0 0 0 0 0 0 0 1
DES, LOC110121267, LOC126806518, SPEG 0 0 1 0 0 0 0 0 0 0 1
DES, SPEG 0 0 1 0 0 0 0 0 0 0 1
DGKD 0 0 1 0 0 0 0 0 0 0 1
DIS3 0 1 0 0 0 0 0 0 0 0 1
DMD, FTHL17, GK, IL1RAPL1, MAGEB1, MAGEB2, MAGEB3, MAGEB4, NR0B1, TAB3, TASL 1 0 0 0 0 0 0 0 0 0 1
DMPK, LOC107075317 0 0 1 0 0 0 0 0 0 0 1
DNAAF3, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, MIR6802, MIR6803, MIR6804, PPP6R1, PTPRH, SYT5, TMEM86B, TNNI3, TNNT1 0 0 1 0 0 0 0 0 0 0 1
DNAAF3, TNNI3, TNNT1 0 0 1 0 1 0 0 0 0 0 1
DNAAF5, FAM20C, PDGFA, PRKAR1B, SUN1 0 0 1 0 0 0 0 0 0 0 1
DNAAF5, SUN1 0 0 1 0 0 0 0 0 0 0 1
DNAJC30, LOC129998603 1 0 0 0 0 0 0 0 0 0 1
DNASE1L1, EMD, FLNA, RPL10, TAFAZZIN 0 0 1 0 0 0 0 0 0 0 1
DNM1L, FGD4, LOC126861496, LOC126861497, LOC129390433, LOC129390434, LOC130007663, PKP2, YARS2 0 0 1 0 0 0 0 0 0 0 1
DNMT3A 0 1 0 0 0 0 0 0 0 0 1
DPM3 0 1 0 0 0 0 0 0 0 0 1
DST 1 0 0 0 0 0 0 0 0 0 1
DYSF 0 0 1 0 0 0 0 0 0 0 1
EIF1AX 0 1 0 0 0 0 0 0 0 0 1
EIF4A3, GAA 0 0 1 0 0 0 0 0 0 0 1
EMD, LOC107988033, LOC130068862, LOC130068863, LOC130068864 1 0 0 0 0 0 0 0 0 0 1
EMD, LOC130068864 0 0 1 0 0 0 0 0 0 0 1
EMILIN2, LPIN2, MYL12A, MYL12B, MYOM1, SMCHD1, TGIF1 0 0 1 0 0 0 0 0 0 0 1
ESR1, FBXO5, LINC02840, LOC105378066, LOC126859836, LOC126859837, LOC126859838, LOC126859839, LOC126859840, LOC129389688, LOC129997477, LOC129997478, LOC129997479, LOC129997480, LOC129997481, LOC129997482, LOC129997483, LOC129997484, LOC129997485, LOC129997486, LOC129997487, LOC129997488, LOC129997489, LOC129997490, LOC129997491, LOC129997492, LOC129997493, MTRF1L, MYCT1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 0 0 1
ESR1, LOC129389688, LOC129997477, LOC129997478, SYNE1 0 0 1 0 0 0 0 0 0 0 1
FAM135A 0 0 0 1 0 0 0 0 0 0 1
FAM98B, LINC02694, LOC105370781, LOC126862106, LOC126862107, LOC126862108, LOC129390685, LOC130056790, LOC130056791, LOC130056792, LOC130056793, LOC130056794, LOC130056795, LOC130056796, LOC130056797, LOC130056798, LOC130056799, LOC130056800, LOC130056801, LOC130056802, LOC130056803, LOC130056804, LOC130056805, LOC130056806, RASGRP1, SPRED1 1 0 0 0 0 0 0 0 0 0 1
FANCA, SPIRE2 0 0 1 0 0 0 0 0 0 0 1
FBN1 0 1 0 0 0 0 0 0 0 0 1
FBN2 0 0 1 0 0 0 0 0 0 0 1
FBXO5, MTRF1L, MYCT1, OPRM1, RGS17, SYNE1, VIP 1 0 0 0 0 0 0 0 0 0 1
FHOD3, LOC130062385 0 0 1 0 0 0 0 0 0 0 1
FLNA 0 0 1 0 0 0 0 0 0 0 1
FLT3 0 1 0 0 0 0 0 0 0 0 1
FXN, LOC130001862 0 0 1 0 0 0 0 0 0 0 1
GALNT11, GALNTL5, KMT2C, PRKAG2, XRCC2 0 0 1 0 0 0 0 0 0 0 1
GATA6 0 1 0 0 0 0 0 0 0 0 1
GBA1, THBS3 0 0 1 0 0 0 0 0 0 0 1
GJB2 1 0 0 0 0 0 0 0 0 0 1
GPR149 0 0 1 0 0 0 0 0 0 0 1
GSK3A, LOC130064563 0 0 1 0 0 0 0 0 0 0 1
GSK3B 0 0 1 0 0 0 0 0 0 0 1
H1-4 0 1 0 0 0 0 0 0 0 0 1
H19-ICR 1 0 0 0 0 0 0 0 0 0 1
H2AC16 0 1 0 0 0 0 0 0 0 0 1
H2AC17 0 1 0 0 0 0 0 0 0 0 1
H3C1 0 1 0 0 0 0 0 0 0 0 1
HAND2 1 0 0 0 0 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510 0 0 1 0 0 0 0 0 0 0 1
HCN2 0 0 1 0 0 0 0 0 0 0 1
HCN4, LOC105370890, LOC126862173 0 0 0 1 0 0 0 0 0 0 1
HDAC4 0 1 0 0 0 0 0 0 0 0 1
IGF2R 0 0 1 0 0 0 0 0 0 0 1
IL7R 0 1 0 0 0 0 0 0 0 0 1
ILK 0 0 1 0 0 0 0 0 0 0 1
JPH2, LOC108353820, LOC121853007 0 0 1 0 0 0 0 0 0 0 1
KCND3 0 0 0 0 1 0 0 0 0 0 1
KCNE3, LIPT2 0 0 0 1 0 0 0 0 0 0 1
KCNQ1OT1 1 0 0 0 0 0 0 0 0 0 1
KDM5C, LOC130068308 0 1 0 0 0 0 0 0 0 0 1
KIF5B 1 1 0 0 0 0 0 0 0 0 1
KLF5 1 0 0 0 0 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 0 0 0 1
L2HGDH, SOS2 0 0 1 0 0 0 0 0 0 0 1
LAMC1 0 0 1 0 0 0 0 0 0 0 1
LATS1 0 1 0 0 0 0 0 0 0 0 1
LINC00362, LOC130009362, LOC132090179, SGCG 0 0 1 0 0 0 0 0 0 0 1
LINC00362, LOC132090179, SGCG 1 0 0 0 0 0 0 0 0 0 1
LOC101927055, LOC126806428, LOC126806429, LOC126806430, LOC126806431, LOC126806432, LOC126806433, TTN 0 0 1 0 0 0 0 0 0 0 1
LOC105378604, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC120851201, LOC121967052, LOC124903827, LOC126805583, LOC126805584, LOC126805585, LOC132088690, LOC132088694, LOC132090658, MIR4251, PRDM16 0 0 1 0 0 0 0 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 0 0 0 0 0 1
LOC108004545, LOC108004547, LOC108004548, LOC108004549, LOC108004550, LOC108021843, LOC126862629, LOC126862630, LOC126862631, LOC130061541, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 0 0 0 0 1
LOC108004545, LOC131477896, REVSEX, SOX9 1 0 0 0 0 0 0 0 0 0 1
LOC108178989, SRY 0 0 1 0 0 0 0 0 0 0 1
LOC110121276, LOC110121277, LOC110121278, LOC110121279, LOC129999662, LOC129999663, LOC129999664, PRKAG2 0 0 1 0 0 0 0 0 0 0 1
LOC110121276, PRKAG2 0 0 0 0 1 0 0 0 0 0 1
LOC111875823, LOC126861041, LOC130004733, LOC130004734, RBM20 0 0 1 0 0 0 0 0 0 0 1
LOC114827851, MYH6, MYH7 0 0 0 1 0 0 0 0 0 0 1
LOC114827851, MYH7 0 0 0 1 0 0 0 0 0 0 1
LOC121587601, SGCA 0 0 1 0 0 0 0 0 0 0 1
LOC125371495, NDUFA13 1 0 0 0 0 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC126806424, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PLEKHA3, TTN 0 1 0 0 0 0 0 0 0 0 1
LOC126806420, LOC126806421, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, TTN 0 1 0 0 0 0 0 0 0 0 1
LOC126806422, LOC126806423, LOC126806424, LOC126806425, LOC126806426, LOC126806427, LOC129388955, TTN 1 0 0 0 0 0 0 0 0 0 1
LOC126806425, LOC126806426, LOC126806427, TTN 0 0 1 0 0 0 0 0 0 0 1
LOC126806428, LOC126806429, LOC126806430, LOC126806431, TTN 0 0 1 0 0 0 0 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 0 0 0 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 0 0 0 0 0 1
LOC126862085, TJP1 0 0 1 0 0 0 0 0 0 0 1
LOC129388955, TTN 0 0 1 0 0 0 0 0 0 0 1
LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 0 0 1 0 0 0 0 0 0 0 1
LOC129389631, TRDN 0 0 1 0 0 0 0 0 0 0 1
LOC129390685, SPRED1 1 0 0 0 0 0 0 0 0 0 1
LOC129930795, NEXN 0 0 1 0 0 0 0 0 0 0 1
LOC129932678, PSEN2 0 0 0 0 1 0 0 0 0 0 1
LOC130008520, TMPO 0 0 1 0 0 0 0 0 0 0 1
LOC130008523, SLC25A3 1 0 0 0 0 0 0 0 0 0 1
LOC130009362, SGCG 1 0 0 0 0 0 0 0 0 0 1
LOC130057340, MAP2K1 0 0 0 1 0 0 0 0 0 0 1
LOC130062255, MIB1 0 1 0 0 0 0 0 0 0 0 1
LOC130063979, PIK3R2 0 1 0 0 0 0 0 0 0 0 1
LOC130067862, SCO2, TYMP 0 0 0 0 1 0 0 0 0 0 1
LPL 0 1 0 0 0 0 0 0 0 0 1
MADD 1 0 0 0 0 0 0 0 0 0 1
MASP1 0 0 1 0 0 0 0 0 0 0 1
MED12 1 0 0 0 0 0 0 0 0 0 1
MGA 0 1 0 0 0 0 0 0 0 0 1
MSH6 0 1 0 0 0 0 0 0 0 0 1
MST1R 0 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8 1 0 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TC, MT-TD, MT-TE, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY 0 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TC, MT-TD, MT-TG, MT-TH, MT-TK, MT-TL2, MT-TR, MT-TS1, MT-TS2, MT-TY 0 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-ND1, MT-ND2, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TF, MT-TI, MT-TK, MT-TL1, MT-TM, MT-TN, MT-TQ, MT-TS1, MT-TV, MT-TW, MT-TY 1 1 0 0 0 0 0 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO3, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TG, MT-TH, MT-TL2, MT-TR, MT-TS2 0 0 0 0 0 0 0 0 0 1 1
MT-ATP6, MT-CO3 1 0 0 0 0 0 0 0 0 0 1
MT-CO1, MT-TS1 1 0 0 0 0 0 0 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 0 0 0 0 0 0 1
MT-ND4L 1 0 0 0 0 0 0 0 0 1 1
MT-ND5, MT-ND6 1 0 0 0 0 0 0 0 0 1 1
MT-TG 1 0 0 0 0 0 0 0 0 0 1
MT-TK 0 0 1 0 0 0 0 0 0 0 1
MYBPHL 0 0 1 0 0 0 0 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 0 0 0 0 1
MYH14 0 0 1 0 0 0 0 0 0 0 1
MYH6, MYH7 0 0 0 0 1 0 0 0 0 0 1
MYOT, PKD2L2-DT 0 0 1 0 0 0 0 0 0 0 1
NCOR2 0 1 0 0 0 0 0 0 0 0 1
NDUFA13 1 0 0 0 0 0 0 0 0 0 1
NDUFB11 0 1 0 0 0 0 0 0 0 0 1
NDUFS2 0 1 0 0 0 0 0 0 0 0 1
NEDD4L 0 0 1 0 0 0 0 0 0 0 1
NF1 0 1 0 0 0 0 0 0 0 0 1
NFATC2 0 1 0 0 0 0 0 0 0 0 1
NKX2-1, SFTA3 0 1 0 0 0 0 0 0 0 0 1
NOD2 0 0 1 0 0 0 0 0 0 0 1
NODAL 1 0 0 0 0 0 0 0 0 0 1
NSD2 1 0 0 0 0 0 0 0 0 0 1
P2RX5-TAX1BP3, TAX1BP3 0 0 1 0 0 0 0 0 0 0 1
P2RY8 0 1 0 0 0 0 0 0 0 0 1
PIK3R2 0 1 0 0 0 0 0 0 0 0 1
PITX1 0 1 0 0 0 0 0 0 0 0 1
PITX2 0 0 1 0 0 0 0 0 0 0 1
PMS2 1 0 0 0 0 0 0 0 0 0 1
PRICKLE3 0 0 0 0 0 0 1 0 0 0 1
PRKAR1A 0 1 0 0 0 0 0 0 0 0 1
RAPGEF5 0 1 0 0 0 0 0 0 0 0 1
RECQL4 0 1 0 0 0 0 0 0 0 0 1
RNF123 0 0 1 0 0 0 0 0 0 0 1
RP1 0 0 1 0 0 0 0 0 0 0 1
RSRP1 0 0 1 0 0 0 0 0 0 0 1
RXRA 0 1 0 0 0 0 0 0 0 0 1
RYR1 0 1 0 0 0 0 0 0 0 0 1
SAMHD1 0 1 0 0 0 0 0 0 0 0 1
SCN1B 1 0 0 0 0 0 0 0 0 0 1
SCN2B 0 0 1 0 0 0 0 0 0 0 1
SCN3B 0 0 0 1 0 0 0 0 0 0 1
SCN4B 0 0 1 0 0 0 0 0 0 0 1
SEMA3E 0 1 0 0 0 0 0 0 0 0 1
SGK1 0 1 0 0 0 0 0 0 0 0 1
SH2B3 0 1 0 0 0 0 0 0 0 0 1
SLC22A5 0 1 0 0 0 0 0 0 0 0 1
SLC26A4 0 1 0 0 0 0 0 0 0 0 1
SOX9 1 0 0 0 0 0 0 0 0 0 1
STK38 0 0 1 0 0 0 0 0 0 0 1
SURF1 1 0 0 0 0 0 0 0 0 0 1
TCF3 0 1 0 0 0 0 0 0 0 0 1
TET3 0 1 0 0 0 0 0 0 0 0 1
TGFBR2 0 0 1 0 0 0 0 0 0 0 1
TMOD1 0 0 1 0 0 0 0 0 0 0 1
TRAF5 0 1 0 0 0 0 0 0 0 0 1
TSFM 1 0 0 0 0 0 0 0 0 0 1
TUBA1A 1 0 0 0 0 0 0 0 0 0 1
TUBB3 0 0 0 0 0 0 0 0 0 1 1
UMPS 1 0 0 0 0 0 0 0 0 0 1
UNC45B 0 1 0 0 0 0 0 0 0 0 1
UQCRC1 0 1 0 0 0 0 0 0 0 0 1
VEZF1 1 0 0 0 0 0 0 0 0 0 1
WWP1 0 0 1 0 0 0 0 0 0 0 1
YAP1 0 1 0 0 0 0 0 0 0 0 1
ZBTB17 0 0 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 420
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign likely risk allele risk factor uncertain risk allele other not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4884 4884 40928 45163 4365 0 0 0 3 0 100222
Color Diagnostics, LLC DBA Color Health 133 89 5637 4065 452 0 0 0 0 0 10376
Illumina Laboratory Services, Illumina 41 35 5396 1426 1584 0 0 0 0 0 8071
Fulgent Genetics, Fulgent Genetics 479 642 5237 789 116 0 0 0 0 0 7263
All of Us Research Program, National Institutes of Health 136 90 4101 2061 147 0 0 0 0 0 6535
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 195 334 2156 1358 1230 0 0 0 0 0 5273
Genome-Nilou Lab 59 84 699 305 1074 0 0 0 0 0 2219
Natera, Inc. 174 42 1204 594 127 0 0 0 0 0 2141
Baylor Genetics 558 701 576 1 0 0 0 0 0 0 1832
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 497 649 65 1 0 0 0 0 0 0 1212
OMIM 892 0 12 0 0 0 4 0 0 0 907
Revvity Omics, Revvity 92 71 674 21 0 0 0 0 0 0 858
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 271 141 411 32 1 0 0 0 0 0 856
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 427 223 11 13 79 0 0 0 0 0 752
Counsyl 51 360 235 96 4 0 0 0 1 0 747
Blueprint Genetics 70 147 423 35 3 0 0 0 0 0 678
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 22 23 104 239 184 0 0 0 0 0 572
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 67 24 143 119 195 0 0 0 0 0 548
Genome Diagnostics Laboratory, The Hospital for Sick Children 80 36 197 81 145 0 0 0 0 0 539
Department of Pathology and Laboratory Medicine, Sinai Health System 22 46 375 44 32 0 0 0 0 0 519
3billion 218 131 91 7 0 0 0 0 0 0 447
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 120 25 200 2 15 0 0 0 0 0 362
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 161 84 63 8 15 0 0 0 0 0 331
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 51 49 214 4 4 0 0 0 0 0 322
Juno Genomics, Hangzhou Juno Genomics, Inc 100 157 44 0 0 0 0 0 0 0 301
Cardiogenetics and Myogenetics Molecular and Cellular Functional Unit, Aphp Sorbonne University-Hopital Pitie Salpetriere 13 268 19 0 0 0 0 0 0 0 300
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 22 4 38 143 89 0 0 0 0 0 296
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 93 75 44 49 12 0 0 0 0 0 273
Mendelics 82 30 67 20 72 0 0 0 0 0 271
New York Genome Center 28 25 218 0 0 0 0 0 0 0 271
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 63 39 133 14 11 0 0 0 0 0 260
Genetics and Genomics Program, Sidra Medicine 4 10 153 76 0 0 0 0 0 0 242
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 61 54 122 4 1 0 0 0 0 0 241
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 26 0 25 61 126 0 0 0 0 0 238
ClinGen ACADVL Variant Curation Expert Panel, ClinGen 38 120 49 10 14 0 0 0 0 0 231
Neuberg Centre For Genomic Medicine, NCGM 54 43 128 1 0 0 0 0 0 0 226
Institute of Human Genetics, University of Leipzig Medical Center 75 56 82 7 2 0 0 0 0 0 222
Service de Génétique Moléculaire, Hôpital Robert Debré 16 52 95 53 0 0 0 0 0 0 216
Center for Human Genetics, University of Leuven 56 62 92 2 0 0 0 0 0 0 212
Centre for Mendelian Genomics, University Medical Centre Ljubljana 50 23 129 5 3 0 0 0 0 0 210
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 31 9 149 1 0 0 0 0 0 0 189
Genome Diagnostics Laboratory, University Medical Center Utrecht 22 2 14 50 92 0 0 0 0 0 180
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust 0 103 64 1 0 0 0 0 0 6 171
Cohesion Phenomics 0 0 0 20 149 0 0 0 0 0 168
CSER _CC_NCGL, University of Washington 3 18 111 25 1 0 0 0 0 0 158
ClinGen Cardiomyopathy Variant Curation Expert Panel 29 22 50 7 47 0 0 0 0 0 155
Institute of Molecular, Cell and Systems Biology, University of Glasgow 146 0 0 0 0 0 0 0 0 0 146
Institute of Human Genetics, University of Wuerzburg 10 32 50 7 7 0 0 0 0 40 146
MGZ Medical Genetics Center 37 37 56 0 0 0 0 0 0 0 130
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 3 114 3 4 0 0 0 0 0 127
Myriad Genetics, Inc. 19 93 15 0 0 0 0 0 0 0 127
Molecular Genetics, Royal Melbourne Hospital 26 25 56 6 6 0 0 0 0 0 119
GeneReviews 2 0 3 0 4 0 0 0 0 106 115
Clinical Genomics Laboratory, Stanford Medicine 7 12 90 0 0 0 0 0 0 0 109
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 40 39 23 0 0 0 0 0 0 0 101
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 6 19 72 0 0 0 0 0 0 0 97
Zaffran Lab, Genetics of Cardiac Diseases Laboratory, Marseille Medical Genetics 15 10 63 1 6 0 0 0 0 0 95
Clinical Genomics Laboratory, Washington University in St. Louis 17 19 55 0 0 0 0 0 0 0 91
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 4 4 33 24 25 0 0 0 0 0 90
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 78 12 0 0 0 0 0 0 0 90
Genetics and Molecular Pathology, SA Pathology 35 18 37 0 0 0 0 0 0 0 90
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 56 17 11 0 0 0 0 0 0 0 84
KardioGenetik, Herz- und Diabeteszentrum NRW 8 33 43 0 0 0 0 0 0 0 84
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 35 30 15 0 0 0 0 0 0 0 80
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 9 35 35 0 0 0 0 0 0 0 79
Phosphorus, Inc. 8 5 42 3 20 0 0 0 0 0 78
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 20 33 19 0 0 0 0 0 0 0 72
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 50 22 0 0 0 0 0 0 0 0 72
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 39 10 21 1 0 0 1 0 0 0 72
Klaassen Lab, Charite University Medicine Berlin 7 15 45 0 0 0 0 0 0 0 67
Institut für Laboratoriums- und Transfusionsmedizin, Herz- und Diabeteszentrum Nordrhein-Westfalen 8 19 34 4 0 0 0 0 0 0 65
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 9 10 46 0 0 0 0 0 0 0 65
Genomic Research Center, Shahid Beheshti University of Medical Sciences 18 12 32 2 0 0 0 0 0 0 64
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 15 20 26 0 0 0 0 0 0 0 61
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 0 61 61
Neuromuscular Research, Maastricht University Medical Centre 48 0 0 0 14 0 0 0 0 0 61
Lildballe Lab, Aarhus University Hospital 12 42 6 0 0 0 0 0 0 0 60
ClinGen RASopathy Variant Curation Expert Panel 39 10 4 1 2 0 0 0 0 0 56
Center of Genomic medicine, Geneva, University Hospital of Geneva 33 8 14 0 0 0 0 0 0 0 55
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 17 10 25 2 0 0 0 0 0 0 54
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 32 14 8 1 0 0 0 0 0 0 54
MVZ Medizinische Genetik Mainz 0 12 42 0 0 0 0 0 0 0 54
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 1 52 0 0 0 0 0 0 0 0 53
KTest Genetics, KTest 32 21 0 0 0 0 0 0 0 0 53
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 31 9 10 0 0 0 0 0 50
Institute of Immunology and Genetics Kaiserslautern 22 12 16 0 0 0 0 0 0 0 50
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 0 49 49
deCODE genetics, Amgen 5 43 0 0 0 0 0 0 0 0 48
GeneDx 15 1 9 1 21 0 0 0 0 0 47
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 18 11 18 0 0 0 0 0 0 0 47
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 35 11 0 0 0 0 0 0 0 0 46
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 14 6 24 1 0 0 0 0 0 0 45
Knight Diagnostic Laboratories, Oregon Health and Sciences University 14 5 26 0 0 0 0 0 0 0 45
Molecular Genetics Laboratory - Cardiogenetics, CHU de Nantes 13 0 32 0 0 0 0 0 0 0 45
Research Unit of Cardiovascular and Metabolic Disease, Inserm 1 43 0 0 0 0 0 0 0 0 44
Cytogenetics- Mohapatra Lab, Banaras Hindu University 6 19 12 3 3 0 0 0 0 0 43
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 2 12 28 0 0 0 0 0 0 0 42
Centogene AG - the Rare Disease Company 18 11 12 0 0 0 0 0 0 0 41
Sema4, Sema4 0 0 12 15 10 0 0 0 0 0 37
Molecular Genetics, Centre for Human Genetics 27 4 6 0 0 0 0 0 0 0 37
Genomics England Pilot Project, Genomics England 10 26 0 0 0 0 0 0 0 0 36
Clinical Genetics Laboratory, Region Ostergotland 16 16 3 0 0 0 0 0 0 0 35
Division of Human Genetics, Children's Hospital of Philadelphia 4 5 25 0 0 0 0 0 0 0 34
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 10 13 9 0 1 0 0 0 0 0 33
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 20 12 0 0 0 0 0 0 0 0 32
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 14 9 9 0 0 0 0 0 0 0 32
Genomic Medicine Lab, University of California San Francisco 19 7 5 0 0 0 0 0 0 0 31
Loeys Lab, Universiteit Antwerpen 13 0 18 0 0 0 0 0 0 0 31
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 30 0 0 0 0 0 0 0 0 0 30
Center for Human Genetics, Inc, Center for Human Genetics, Inc 19 4 4 1 1 0 0 0 0 0 29
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 16 8 5 0 0 0 0 0 0 0 29
DASA 25 3 0 0 0 0 0 0 0 0 28
Johns Hopkins Genomics, Johns Hopkins University 8 7 12 0 0 0 0 0 0 0 27
Clinical Genetics Laboratory, Skane University Hospital Lund 8 14 5 0 0 0 0 0 0 0 27
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 7 8 11 0 0 0 0 0 0 0 26
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 14 8 3 0 0 0 0 0 0 0 25
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 8 6 9 1 0 0 0 0 0 0 24
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 21 3 0 0 0 0 0 0 0 0 24
Institute of Human Genetics, University of Goettingen 1 9 11 2 0 0 0 0 0 0 23
Center for Medical Genetics Ghent, University of Ghent 9 12 2 0 0 0 0 0 0 0 23
University of Washington Center for Mendelian Genomics, University of Washington 0 2 21 0 0 0 0 0 0 0 23
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 11 8 4 0 1 0 0 0 0 0 23
Genetic Services Laboratory, University of Chicago 14 7 1 0 0 0 0 0 0 0 22
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 10 2 6 3 0 0 0 0 0 0 21
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 11 10 0 0 0 0 0 0 0 0 21
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 12 7 2 0 0 0 0 0 0 0 21
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 7 6 8 0 0 0 0 0 0 0 21
GenomeConnect - CFC International 0 0 0 0 0 0 0 0 0 20 20
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 5 3 12 0 0 0 0 0 0 0 20
Molecular Genetics Laboratory, Motol Hospital 10 10 0 0 0 0 0 0 0 0 20
ICMR Centre for Advanced Research and Excellence in Heart Failure, Sree Chitra Tirunal Institute for Medical Sciences & Technology, KERALA, INDIA 2 11 6 1 0 0 0 0 0 0 20
Institute of Human Genetics, Heidelberg University 9 10 0 0 0 0 0 0 0 0 19
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 8 1 5 4 0 0 0 0 0 0 18
SIB Swiss Institute of Bioinformatics 1 7 8 1 1 0 0 0 0 0 18
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 13 0 0 0 0 0 0 2 17
UCLA Clinical Genomics Center, UCLA 6 11 0 0 0 0 0 0 0 0 17
Pars Genome Lab 0 0 4 3 10 0 0 0 0 0 17
Department of Human Genetics, Hannover Medical School 8 5 4 0 0 0 0 0 0 0 17
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 7 3 5 0 0 0 0 0 0 0 15
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 5 10 0 0 0 0 0 0 0 0 15
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 4 3 2 3 0 3 0 0 15
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 12 1 0 0 0 0 0 0 14
Undiagnosed Diseases Network, NIH 8 4 2 0 0 0 0 0 0 0 14
Reproductive Development, Murdoch Childrens Research Institute 1 0 0 0 13 0 0 0 0 0 14
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 1 6 7 0 0 0 0 0 0 0 14
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 5 1 8 0 0 0 0 0 0 0 14
Suma Genomics 6 2 6 0 0 0 0 0 0 0 14
Human Genetics Bochum, Ruhr University Bochum 2 6 6 0 0 0 0 0 0 0 14
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 0 0 0 0 13 13
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 8 5 0 0 0 0 0 0 0 0 13
Breda Genetics srl 3 3 6 1 0 0 0 0 0 0 13
Arcensus 5 8 0 0 0 0 0 0 0 0 13
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 5 4 4 0 0 0 0 0 0 0 13
Mayo Clinic Laboratories, Mayo Clinic 1 1 10 0 0 0 0 0 0 0 12
Daryl Scott Lab, Baylor College of Medicine 5 2 5 0 0 0 0 0 0 0 12
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 9 3 0 0 0 0 0 0 0 0 12
Institute of Human Genetics, Cologne University 1 4 5 1 0 0 0 0 0 0 11
Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University 4 6 1 0 0 0 0 0 0 0 11
Lifecell International Pvt. Ltd 8 3 0 0 0 0 0 0 0 0 11
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 0 0 3 7 0 0 0 0 0 11
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie 10 0 0 0 0 0 0 0 0 0 10
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 2 8 0 0 0 0 0 0 0 0 10
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University 7 1 1 0 1 0 0 0 0 0 10
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 4 6 0 0 0 0 0 0 0 10
Athena Diagnostics 5 3 0 0 1 0 0 0 0 0 9
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 4 4 1 0 0 0 0 0 0 0 9
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 2 6 0 0 0 0 0 0 0 9
Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University 8 0 0 1 0 0 0 0 0 0 9
Heart Center, Academic Medical Center Amsterdam 2 7 0 0 0 0 0 0 0 0 9
Department of Human Genetics, University Hospital Magdeburg 6 2 1 0 0 0 0 0 0 0 9
University of Washington Department of Laboratory Medicine, University of Washington 0 1 7 0 1 0 0 0 0 0 9
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 9 0 0 0 0 0 0 0 0 0 9
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 2 1 6 0 0 0 0 0 0 0 9
UMR_S938_Pr. Le Bouc INSERM 0 0 0 0 0 0 0 0 0 8 8
Centre for Human Genetics 2 3 3 0 0 0 0 0 0 0 8
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 7 1 0 0 0 0 0 0 0 0 8
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 6 1 1 0 0 0 0 0 0 0 8
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 2 6 0 0 0 0 0 0 0 0 8
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 0 8 8
Provincial Medical Genetics Program of British Columbia, University of British Columbia 5 1 2 0 0 0 0 0 0 0 8
Exeter Molecular Genetics Laboratory 0 5 2 0 0 0 0 0 0 0 7
Institute of Human Genetics, Medical University Innsbruck 2 2 3 0 0 0 0 0 0 0 7
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 5 2 0 0 0 0 0 0 0 7
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 7 0 0 0 0 0 0 0 0 0 7
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 7 0 0 0 0 0 0 0 0 7
SingHealth Duke-NUS Institute of Precision Medicine 0 2 4 1 0 0 0 0 0 0 7
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 5 0 0 0 0 0 0 0 0 7
Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 3 4 0 0 0 0 0 0 0 0 7
NxGen MDx 0 6 1 0 0 0 0 0 0 0 7
Molecular Therapies Laboratory, Murdoch University 7 0 0 0 0 0 0 0 0 0 7
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 7 0 0 0 0 0 0 0 0 0 7
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 6 1 0 0 0 0 0 0 0 0 7
Hadassah Hebrew University Medical Center 3 3 0 0 0 0 0 0 0 0 6
Department of Medical Genetics, National Institute of Health 3 3 0 0 0 0 0 0 0 0 6
Yale Center for Mendelian Genomics, Yale University 1 5 0 0 0 0 0 0 0 0 6
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 3 1 2 0 0 0 0 0 0 0 6
Clinical and Biomedical Sciences, University of Exeter 3 0 3 0 0 0 0 0 0 0 6
Genomics, Clalit Research Institute, Clalit Health Care 2 4 0 0 0 0 0 0 0 0 6
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 3 2 1 0 0 0 0 0 0 0 6
Genotypic Technology Pvt Ltd 0 2 4 0 0 0 0 0 0 0 6
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 2 4 0 0 0 0 0 0 0 6
Breakthrough Genomics, Breakthrough Genomics 2 4 0 0 0 0 0 0 0 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 4 1 0 0 0 0 0 0 0 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 4 1 0 0 0 0 0 0 0 0 5
Leiden Muscular Dystrophy (MYL2) 0 0 0 0 0 0 0 0 0 5 5
Leiden Muscular Dystrophy (TPM1) 0 0 0 0 0 0 0 0 0 5 5
Duke University Health System Sequencing Clinic, Duke University Health System 3 1 1 0 0 0 0 0 0 0 5
Laboratory of Prof. Karen Avraham, Tel Aviv University 4 0 1 0 0 0 0 0 0 0 5
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 3 1 1 0 0 0 0 0 0 0 5
Center for Molecular Medicine, Children’s Hospital of Fudan University 3 2 0 0 0 0 0 0 0 0 5
Genetic Medico-Diagnostic Laboratory Genica 3 0 2 0 0 0 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 1 1 0 0 0 0 0 0 0 5
Neuromuscular and Neuropediatric Research Group, Germans Trias i Pujol Research Institute 4 1 0 0 0 0 0 0 0 0 5
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 3 0 0 0 0 0 0 0 0 5
Cardiology unit, Meyer University Hospital 1 4 0 0 0 0 0 0 0 0 5
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 3 0 0 0 0 0 0 0 5
Molecular Genetics Lab, CHRU Brest 3 2 0 0 0 0 0 0 0 0 5
Laan Lab, Human Genetics Research Group, University of Tartu 2 3 0 0 0 0 0 0 0 0 5
Solve-RD Consortium 0 5 0 0 0 0 0 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 2 0 0 0 0 0 0 0 4
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 1 1 2 0 0 0 0 0 0 0 4
Donald Williams Parsons Laboratory, Baylor College of Medicine 3 1 0 0 0 0 0 0 0 0 4
Rampazzo Lab, Human Molecular Genetics Unit, University of Padua 3 1 0 0 0 0 0 0 0 0 4
Department of Medical Biology, Faculty of Medicine, Hacettepe University 2 2 0 0 0 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 2 0 0 0 0 0 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 3 0 1 0 0 0 0 0 0 0 4
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 2 1 1 0 0 0 0 0 0 0 4
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 1 3 0 0 0 0 0 0 0 0 4
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 2 2 0 0 0 0 0 0 0 0 4
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 3 1 0 0 0 0 0 0 0 0 4
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 3 0 0 0 0 0 0 0 0 0 3
Leiden Muscular Dystrophy (MYL3) 0 0 0 0 0 0 0 0 0 3 3
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 0 0 0 1 0 3
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 1 2 0 0 0 0 0 0 0 3
ITMI 0 0 3 0 0 0 0 0 0 0 3
Center for Genetic Medicine Research, Children's National Medical Center 0 3 0 0 0 0 0 0 0 0 3
Clinical Genetics and Genomics, Karolinska University Hospital 1 2 0 0 0 0 0 0 0 0 3
Medical Genetic Department, Shiraz University Of Medical Science 3 0 0 0 0 0 0 0 0 0 3
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 2 1 0 0 0 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 0 0 0 0 3
Laboratory of Molecular Genetics, CHU Rennes 3 0 0 0 0 0 0 0 0 0 3
Medical Molecular Genetics Department, National Research Center 3 0 0 0 0 0 0 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 1 2 0 0 0 0 0 0 0 0 3
The Genetics Institute, Rambam Health Care Campus 0 3 0 0 0 0 0 0 0 0 3
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 2 1 0 0 0 0 0 0 0 0 3
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 2 0 1 0 0 0 0 0 0 0 3
Genetics and Molecular Pathology Laboratory, Hudson Institute of Medical Research 0 0 3 0 0 0 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 1 1 1 0 0 0 0 0 0 0 3
Division of Paediatric Endocrinology and Diabetes, University of Luebeck 2 1 0 0 0 0 0 0 0 0 3
Genetic Diseases Diagnostic Center, Koc University Hospital 0 3 0 0 0 0 0 0 0 0 3
Reproductive Health Research and Development, BGI Genomics 2 1 0 0 0 0 0 0 0 0 3
Biochemical Genetics Department, Cyprus Institute of Neurology and Genetics 2 1 0 0 0 0 0 0 0 0 3
Molecular Cardiogenetic Lab, Hospices Civils de Lyon 3 0 0 0 0 0 0 0 0 0 3
Division of Medical Genetics, University of Washington 2 1 0 0 0 0 0 0 0 0 3
Center of Excellence for Medical Genomics, Chulalongkorn University 2 1 0 0 0 0 0 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 3 0 0 0 0 0 0 0 0 0 3
Heart Failure and Familial Heart Diseases Unit, Hospital Universitario Virgen de la Victoria 0 1 2 0 0 0 0 0 0 0 3
Pediatric Genetics Clinic, Sheba Medical Center 3 0 0 0 0 0 0 0 0 0 3
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 1 1 1 0 0 0 0 0 0 0 3
Department of Neurology, Second Xiangya Hospital of Central South University 1 2 0 0 0 0 0 0 0 0 3
Palindrome, Gene Kavoshgaran Aria 3 0 0 0 0 0 0 0 0 0 3
Medical Genetics Clinic, University of Catania 0 1 2 0 0 0 0 0 0 0 3
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 3 0 0 0 0 0 0 0 0 0 3
Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University 2 1 0 0 0 0 0 0 0 0 3
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 3 0 0 0 0 0 0 0 0 3
Neonatal Disease Screening Center, Medical Genetics Center, Huaihua City Maternal and Child Health Care Hospital 2 0 1 0 0 0 0 0 0 0 3
Muscle and Diseases Team, Institut de Génétique et Biologie Moléculaire et Cellulaire 0 3 0 0 0 0 0 0 0 0 3
Cardiac Research Department, West China Second University Hospital 3 0 0 0 0 0 0 0 0 0 3
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Inje University Ilsan Paik Hospital 2 1 0 0 0 0 0 0 0 0 3
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University 0 3 0 0 0 0 0 0 0 0 3
Medical Genome Center, National Cerebral and Cardiovascular Center 1 1 1 0 0 0 0 0 0 0 3
CGC Genetics, Unilabs 0 1 1 0 0 0 0 0 0 0 2
Elsea Laboratory, Baylor College of Medicine 0 0 2 0 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 1 0 0 0 0 0 0 0 2
Health in Code S.L. 0 2 0 0 0 0 0 0 0 0 2
Department of Clinical Genetics, Aarhus University Hospital 0 0 2 0 0 0 0 0 0 0 2
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 0 2 0 0 0 0 0 0 0 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 0 2 2
Neurogenetics Laboratory, Royal Perth Hospital 2 0 0 0 0 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 2 0 0 0 0 0 0 0 2
Harry Perkins Institute Of Medical Research, University Of Western Australia 0 2 0 0 0 0 0 0 0 0 2
Laboratorio de Medicina Genomica, Hospital General de Culiacan 2 0 0 0 0 0 0 0 0 0 2
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 1 0 0 0 0 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 2 0 0 0 0 0 0 0 0 0 2
Cardiovascular Research Laboratory, Shanghai Chest Hospital, Shanghai Jiao Tong University 2 0 0 0 0 0 0 0 0 0 2
Medical Genetics Section, University of Rome Tor Vergata 2 0 0 0 0 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 1 0 0 0 0 0 0 0 2
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 1 1 0 0 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 2 1 0 0 0 0 0 0 0 2
GeniaGeo, Laboratorio Genia 1 1 0 0 0 0 0 0 0 0 2
Amyloidosis Center, Boston University School of Medicine 2 0 0 0 0 0 0 0 0 0 2
Stephanie Ware Laboratory, Indiana University School of Medicine 2 0 0 0 0 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 1 0 0 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 1 0 0 0 0 0 0 0 2
Human Genetics Laboratory, Faculty of Medicine of Tunis 2 0 0 0 0 0 0 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 0 0 0 0 0 0 0 0 0 2
Morava/Kozicz Lab, Department of Clinical Genomics, Mayo Clinic 2 0 0 0 0 0 0 0 0 0 2
Mitochondrial Disorders Lab i+12, Hospital Universitario 12 de Octubre 2 0 0 0 0 0 0 0 0 0 2
Genomic Diagnostics Laboratory, National Institute of Medical Genomics 2 0 0 0 0 0 0 0 0 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 1 0 0 0 0 0 0 0 2
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 2 0 0 0 0 0 0 0 0 0 2
Human Developmental Genetics, Institut Pasteur 2 0 0 0 0 0 0 0 0 0 2
Department of Pediatrics, The University of Tokyo 1 1 0 0 0 0 0 0 0 0 2
Eurofins-Biomnis 2 0 0 0 0 0 0 0 0 0 2
Department of Genetics, Beijing BioBiggen Technology Co., Ltd. 2 0 0 0 0 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 2 0 0 0 0 0 0 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 0 0 0 0 2
Biotechnology, Institute of Science, Nirma University 1 1 0 0 0 0 0 0 0 0 2
Dr.Nikuei Genetic Center 1 0 0 1 0 0 0 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 0 1 1 0 0 0 0 0 0 0 2
Laboratorio Biología Molecular, Sanatorio Americano 0 2 0 0 0 0 0 0 0 0 2
Department of Cardiovascular Medicine, The University of Tokyo, Graduate School of Medicine 1 1 0 0 0 0 0 0 0 0 2
Pediatrics/Division of Genetics and Metabolism, University of Kentucky 2 0 0 0 0 0 0 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 0 0 0 0 1
King Laboratory, University of Washington 0 1 0 0 0 0 0 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 0 0 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 1 0 0 0 0 0 0 0 0 0 1
Genetic Testing Lab, University of Kentucky College of Medicine 1 0 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 0 0 0 0 1
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 1 0 0 0 0 0 0 0 0 0 1
Freeman-Sheldon Research Group, deGruyter-McKusick Institute of Health Sciences 1 0 0 0 0 0 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 1 0 0 0 0 0 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 0 1 0 0 0 0 0 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 0 0 0 1
Centre for Genomic and Experimental Medicine, University of Edinburgh 1 0 0 0 0 0 0 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 0 0 0 0 0 1
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 1 0 0 0 0 0 0 0 0 0 1
emedgene Technologies 1 0 0 0 0 0 0 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 1 0 0 0 0 0 0 0 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 1 0 0 0 0 0 0 0 0 1
Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine 1 0 0 0 0 0 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 0 1 0 0 0 0 0 0 0 1
GenePathDx, GenePath diagnostics 1 0 0 0 0 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 0 0 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 1 0 0 0 0 0 0 0 0 0 1
Prenatal Diagnosis Centre, Shenzhen Maternity and Child Healthcare Hospital 0 0 1 0 0 0 0 0 0 0 1
Caglayan Lab, Istanbul Bilim University 0 1 0 0 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 0 0 0 0 0 0 0 1
Snyder Lab, Genetics Department, Stanford University 0 1 0 0 0 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 0 0 0 0 1
Department of Immunology, University Hospital Southampton NHSFT 0 1 0 0 0 0 0 0 0 0 1
Centro Nacional de Genética Medica "Dr. Eduardo E. Castilla", Administración Nacional de Laboratorios e Institutos de Salud 0 1 0 0 0 0 0 0 0 0 1
Academic Center for Education, Culture and Research, Motamed Cancer Institute 1 0 0 0 0 0 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 1 0 0 0 0 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 0 0 0 0 1
Department of Medical Bioinformatics, Sinopath Diagnosis 0 1 0 0 0 0 0 0 0 0 1
Molecular Genetics Lab, DMCH Ludhiana, Dayanand Medical College & Hospital (DMCH) 0 0 1 0 0 0 0 0 0 0 1
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 0 0 0 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University 1 0 0 0 0 0 0 0 0 0 1
Genatak 0 1 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Department of Biology, Semnan University 0 1 0 0 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 0 0 0 1
James R Lupski Laboratory, Baylor College Of Medicine 1 0 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Instituto de Ciencias en Reproduccion Humana 1 0 0 0 0 0 0 0 0 0 1
Savagenome Genetic Health Clinic, Tarbiat Modares University 0 1 0 0 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 0 0 0 0 1
Cardiogenetic Laboratory, Instituto Murciano de Investigación Biosanitaria 0 1 0 0 0 0 0 0 0 0 1
Cardiovascular Medicine, National Cerebral Cardiovascular Center 1 0 0 0 0 0 0 0 0 0 1
Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta 0 1 0 0 0 0 0 0 0 0 1
University Health Network, Princess Margaret Cancer Centre 1 0 0 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 0 0 0 0 1
Genetics Laboratory, Life Sciences Research Department, Aswan Heart Research Centre 1 0 0 0 0 0 0 0 0 0 1
MNM Diagnostics 1 0 0 0 0 0 0 0 0 0 1
Clinical Genomics and Bioinformatics Laboratory, Pirogov Russian National Research Medical University 1 0 0 0 0 0 0 0 0 0 1
Center of Genetics and Reproductive Medicine "Genetico" 0 1 0 0 0 0 0 0 0 0 1
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 0 0 1 0 0 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 1 0 0 0 0 0 0 0 0 0 1
Medical Genetics Laboratory, CHRU Nancy 1 0 0 0 0 0 0 0 0 0 1
Department of Heart Center, Qingdao Women and Children's Hospital 0 0 1 0 0 0 0 0 0 0 1
Pediatric Endocrinology Clinic, Ege University School of Medicine 1 0 0 0 0 0 0 0 0 0 1
Ladle Lab, Johns Hopkins University 0 1 0 0 0 0 0 0 0 0 1
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia 1 0 0 0 0 0 0 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 1 0 0 0 0 0 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 0 0 0 0 0 1
University Health Network, Familial Cancer Clinic, Princess Margaret Cancer Centre 0 1 0 0 0 0 0 0 0 0 1
Cell and Gene Engineering Laboratory, Zhejiang University 1 0 0 0 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 0 0 1
Department of Cardiology, Liyang City Hospital of Traditional Chinese Medicine 0 1 0 0 0 0 0 0 0 0 1
Genexplore Diagnostics and Research Centre Pvt. Ltd., NA 1 0 0 0 0 0 0 0 0 0 1
Department of Pediatrics, The Affiliated Hospital of Qingdao University 1 0 0 0 0 0 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 0 0 0 0 1
Henan Neurodevelopment Engineering Research Center for Children, Children's Hospital Affiliated to Zhengzhou University 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics, Sadra Medical Genetics Laboratory 1 0 0 0 0 0 0 0 0 0 1
Cardiology, Hunan Children’s Hospital 0 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Graduate School of Medicine, Nagasaki University 1 0 0 0 0 0 0 0 0 0 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 0 1 0 0 0 0 0 0 0 1
Department of Genetics, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran 0 1 0 0 0 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Functional Genomics of Cardiovascular Diseases, Federal State Budgetary Institution National Medical Research Centre of Cardiology Named after Academician E.i.chazov. of the Ministry of Health of the Russian Federation 1 0 0 0 0 0 0 0 0 0 1
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 1 0 0 0 0 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 1 0 0 0 0 0 0 0 0 0 1
Ingles Laboratory, Garvan Institute Of Medical Research 0 0 0 0 1 0 0 0 0 0 1
Biotechnology Department, Cairo University 0 1 0 0 0 0 0 0 0 0 1
Laboratorio de Investigaciones Aplicadas a Neurociencias, Fundación para la Lucha contra las Enfermedades Neurológicas de la Infancia 1 0 0 0 0 0 0 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 0 0 0 0 0 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital 1 0 0 0 0 0 0 0 0 0 1
Unidad de Genética, Hospital Universitario de Canarias 0 1 0 0 0 0 0 0 0 0 1
Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 0 0 0 0 0 1
Department of Pediatrics, Nagoya University Graduate School of Medicine 1 0 0 0 0 0 0 0 0 0 1
Laboratorio de Analisis Clinicos, Hospital Valle de Los Pedroches 0 1 0 0 0 0 0 0 0 0 1
Institute of Rare Diseases, West China Hospital, Sichuan University 0 1 0 0 0 0 0 0 0 0 1
Genetics Department, Catlab 1 0 0 0 0 0 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 0 0 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 1 0 0 0 0 0 0 0 1

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