ClinVar Miner

Variants studied for developmental and epileptic encephalopathy

Included ClinVar conditions (219):
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Gene type:
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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 not provided total
4580 2352 17401 17226 2616 439 43254

Gene and significance breakdown #

Total genes and gene combinations: 357
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CACNA1A 200 117 994 1112 132 7 2492
SPTAN1 44 55 871 1098 183 1 2144
KCNT1 32 33 751 995 120 1 1873
LOC102724058, SCN1A 531 206 520 478 44 112 1788
SCN2A 234 160 700 612 55 7 1725
SCN1A 599 222 488 364 40 94 1699
CHD2 182 89 628 685 81 5 1636
KCNQ2 383 196 509 507 53 69 1627
SCN8A 95 117 695 608 68 38 1555
DOCK7 51 26 645 638 38 0 1380
SYNJ1 33 9 632 542 44 2 1254
GRIN2B 46 33 346 517 159 1 1085
BRAT1 70 18 481 472 54 0 1077
PCDH19 240 74 410 252 18 4 969
ALG13 7 3 357 527 94 1 944
PNKP 73 25 407 421 40 1 917
SIK1 5 2 419 417 83 0 911
CDKL5 297 97 219 243 74 1 893
PLCB1 14 14 428 416 49 0 884
STXBP1 187 82 196 310 49 12 797
SLC12A5 29 13 309 406 29 11 786
HNRNPU 65 30 258 385 52 7 776
HCN1 18 12 346 365 30 1 759
WWOX 67 26 311 251 46 1 687
TBC1D24 61 22 330 238 21 2 660
KCNH5 6 3 284 290 70 0 652
CACNA2D2 22 12 260 330 23 0 647
SLC13A5 34 26 257 283 22 0 605
SZT2 18 25 378 134 49 12 604
KCNB1 36 45 207 253 86 0 599
ARHGEF15 0 1 331 188 36 0 556
ARX 32 13 179 265 20 0 506
DNM1 15 12 162 247 41 1 472
SLC25A22 13 2 163 213 16 0 406
KCNA2 27 24 193 120 10 3 364
GNAO1 44 37 97 164 28 1 362
FRRS1L 29 6 194 122 11 1 359
EEF1A2 11 13 96 212 32 2 357
ARHGEF9 28 13 141 139 29 3 345
SNX27 14 0 133 176 12 0 335
ST3GAL3 9 10 124 152 13 0 303
CACNA2D2, LOC101928965, LOC127898564 10 4 114 133 6 0 267
CACNA1E 8 17 86 66 74 0 242
PIGA 13 17 126 64 33 0 242
MAF, WWOX 6 1 83 52 9 0 150
NECAP1 3 1 77 64 3 0 147
CACNA2D2, LOC127898564 2 0 43 85 5 0 135
CDKL5, RS1 9 2 57 46 23 1 131
ARX, LOC109610631 14 3 44 61 9 1 126
LOC125467768, PCDH19 27 2 61 31 1 0 121
DNM1, LOC113839516 3 8 37 45 8 0 100
SCN3A 6 20 40 4 13 19 90
ATP1A2 5 5 9 3 64 0 83
ATP1A3 12 9 6 10 48 0 81
SMC1A 16 12 13 24 3 1 69
LOC114803470, SCN8A 2 1 36 28 2 0 68
GRIN2D 6 8 46 7 2 1 67
CUX2 2 2 46 4 3 0 56
CACNA1A, LOC130063717 0 0 34 22 0 0 55
GABRB3 11 15 23 4 1 2 55
EEF1A2, LOC132090595 1 0 25 23 3 0 52
LOC129931442, SNX27 0 0 30 20 2 0 52
GABRA1 11 14 25 1 2 0 50
PPP3CA 12 6 10 21 0 0 48
CAD 10 4 28 3 1 0 45
CYFIP2 9 13 17 4 6 0 45
GABRB2 7 12 24 0 2 2 45
SLC1A2 4 6 27 3 6 0 45
SCN1B 8 5 29 5 0 1 44
CACNA1A, LOC126862864 5 4 19 16 1 1 43
CHD2, LOC126862230 5 0 13 24 1 0 43
RHOBTB2 7 7 27 2 3 2 42
AARS1 11 3 17 8 1 2 41
ACTL6B 19 20 11 0 1 0 41
PIGQ 6 4 9 3 18 1 39
CIZ1, DNM1 3 3 14 14 3 0 36
SCN1A, SCN9A 4 1 24 4 3 0 36
AP3B2, CPEB1 12 6 16 2 0 0 35
ATP6V1A 9 6 16 3 0 0 34
PACS2 1 2 30 3 0 0 34
CACNA1A, LOC126862865 3 1 6 21 3 0 33
KCNT2 7 8 16 0 1 0 32
DMXL2 5 1 10 2 12 0 30
DNM1, LOC130002698 2 1 10 15 2 0 30
GABBR2 3 5 15 3 4 0 30
NPHP3-ACAD11, UBA5 17 8 7 0 1 0 30
CACNA1A, LOC126862866 2 0 8 19 0 0 29
GABRG2 6 7 14 0 1 1 29
ITPA 9 6 8 1 4 0 28
LOC126861440, NECAP1 0 1 12 13 1 0 27
SLC25A12 7 5 11 0 3 1 27
DENND5A 4 5 14 1 3 0 26
GABRA2 8 8 12 0 0 0 26
LOC130002651, STXBP1 7 2 7 9 3 0 26
SNAP25 2 18 6 0 0 0 26
TRAK1 4 2 11 2 9 0 25
DNM1, LOC130002699 1 0 11 9 3 0 24
MDH2 7 3 8 4 0 0 22
NTRK2 1 1 10 7 2 0 20
PHACTR1 0 3 16 1 0 0 20
YWHAG 7 9 7 2 0 0 20
GABRA5 4 1 9 1 4 0 19
PIGB 7 2 7 0 3 0 19
CNPY3, CNPY3-GNMT 4 2 12 0 0 0 18
CHRNA4, KCNQ2 10 2 5 0 0 0 17
FGF12 2 3 11 1 2 0 17
LOC113960611, SLC12A5 0 1 7 9 0 0 17
UGDH 7 5 7 1 1 0 17
GABRB1 3 5 6 1 2 0 16
DOCK7, LOC129930655 0 0 6 8 1 0 15
CELF2 7 2 6 0 0 0 14
GAD1 9 3 1 0 1 0 14
KCNC2 7 5 4 0 0 0 14
NEUROD2 3 0 11 0 0 0 14
PARS2 7 3 12 0 0 0 14
ADAM22 4 1 4 1 3 0 13
GOT2 3 3 6 0 4 0 13
GUF1 1 1 5 0 6 0 13
MAST3 6 1 6 0 0 0 13
RNF13 2 2 8 0 1 0 13
ANGPTL3, DOCK7 3 0 3 4 3 0 12
ARV1 5 5 3 0 1 0 12
ATP6V0A1 4 2 6 0 0 0 11
GRIN1 4 1 4 1 0 0 10
FBXO28 8 0 1 0 0 0 9
FGF13 5 2 3 0 0 0 9
CPLX1 3 4 3 0 2 0 8
CYFIP2, NIPAL4-DT 0 0 5 3 0 0 8
HNRNPU, LOC129932913 0 2 1 5 0 0 8
CDK19 1 2 4 1 0 0 7
EEF1A2, KCNQ2 3 1 4 0 0 0 7
GLS 4 1 2 0 0 0 7
CACNA1A, LOC108663985 0 0 0 3 3 0 6
GLUL 6 1 0 0 0 0 6
LRRC37A2, NSF 2 1 4 0 0 0 6
SLC38A3 6 0 0 0 0 0 6
AMD1, CDK19 4 2 1 0 0 0 5
ANO4 5 0 0 0 0 0 5
ATP1A2, LOC126805890 0 0 1 0 4 0 5
FZR1 4 1 0 0 0 0 5
PIGP 2 2 5 0 0 0 5
SCN1A, TTC21B 5 0 0 0 0 0 5
SLC32A1 3 0 2 0 0 0 5
UGP2 1 1 2 0 2 0 5
ATP1A3, LOC130064543 0 0 3 0 1 0 4
CACNA2D1 3 0 1 0 0 0 4
CAD, LOC126806172 0 0 4 0 0 0 4
CDKL5, LOC130067999 4 0 0 0 0 0 4
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 2 0 2 0 0 0 4
DEPDC5 2 0 1 1 0 0 4
DNM1, LOC130002697 0 0 0 4 0 0 4
HID1 3 0 1 0 0 0 4
LOC112486209, LOC132090435, WWOX 2 1 1 0 0 0 4
LOC130065408, PLCB1 0 0 3 0 1 0 4
NAPB 4 0 1 0 0 0 4
SNF8 4 0 0 0 0 0 4
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 2 0 1 0 0 0 3
ALDH7A1 1 0 2 0 0 0 3
ARTN, ATP6V0B, B4GALT2, CCDC24, DPH2, IPO13, SLC6A9, ST3GAL3 1 1 1 0 0 0 3
ARX, PCYT1B, PDK3, POLA1 1 0 2 0 0 0 3
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 2 0 0 0 3
CFAP96, UFSP2 2 2 0 0 0 0 3
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 3 0 0 0 0 0 3
CSRNP3, GALNT3, SCN1A, SCN2A, SCN9A, TTC21B 1 0 2 0 0 0 3
DYNC2I2, SPTAN1 1 0 1 1 0 0 3
GRIN2D, LOC130064855 0 0 2 1 0 0 3
LOC100130357, PHACTR1, TBC1D7-LOC100130357 1 0 2 0 0 0 3
LOC130065410, PLCB1 0 0 1 1 1 0 3
PCDH19, SRPX2, TNMD, TSPAN6 2 0 1 0 0 0 3
PHACTR1, TBC1D7-LOC100130357 2 0 1 0 0 0 3
SCN2A, SCN3A 2 0 1 0 0 0 3
SCN9A 0 0 3 0 0 0 3
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 0 0 2 0 0 0 2
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 1 0 0 0 2
AGPAT3, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 0 2
ALG13, DCX 0 0 2 0 0 0 2
AP3B2, LOC130057772 0 0 1 1 0 0 2
APOLD1, CDKN1B, DDX47, EMP1, FAM234B, GPRC5A, GPRC5D, GRIN2B, GSG1, HEBP1 1 0 1 0 0 0 2
ARV1, LOC129932761 0 0 2 0 0 0 2
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 1 0 0 0 2
BRAT1, LFNG 1 0 1 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 0 0 2 0 0 0 2
CAD, LOC126806171 0 0 2 0 0 0 2
CCNF, TBC1D24 0 0 2 1 0 0 2
CCPG1, DNAAF4-CCPG1, PIGB 1 0 1 0 0 0 2
CFAP298, SYNJ1 0 0 2 0 0 0 2
CHRNA4, EEF1A2, KCNQ2 1 1 0 0 0 0 2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, TTC21B 0 0 2 0 0 0 2
DALRD3 1 1 2 0 0 0 2
DYNC2I2, LOC126860772, SPTAN1 1 0 0 1 0 0 2
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 2 0 0 0 0 0 2
EEF1A2, KCNQ2, PPDPF 2 0 0 0 0 0 2
EEF1A2, PPDPF 0 0 2 0 0 0 2
GOT2, LOC126862363 1 1 1 0 0 0 2
GRIN2D, LOC130064857 2 1 0 0 0 0 2
HYI, SZT2 0 0 2 0 0 0 2
LOC100130357, LOC129995804, PHACTR1, TBC1D7-LOC100130357 1 0 1 0 0 0 2
LOC114827831, STXBP1 0 0 0 2 0 0 2
LOC120977013, LOC129935043, SCN2A, SCN3A 0 0 2 0 0 0 2
LOC130065980, SLC12A5 0 0 2 0 0 0 2
LOC132090428, LOC132090429, WWOX 1 0 1 0 0 0 2
MIR3911, STXBP1 0 1 0 1 0 0 2
SV2A 2 0 0 0 0 0 2
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, USP5, ZNF705A 0 0 1 0 0 0 1
A2ML1, ACSM4, AICDA, APOBEC1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, FAM90A1, FOXJ2, GDF3, LPCAT3, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, ZNF705A 1 0 0 0 0 0 1
ABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AJM1, AK8, BARHL1, BRD3, C8G, C9orf163, CACFD1, CAMSAP1, CARD9, CCDC183, CEL, CFAP77, CLIC3, COL5A1, DBH, DDX31, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FAM163B, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GRIN1, GTF3C4, GTF3C5, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02907, LINC02908, MAMDC4, MAN1B1, MED22, MIR126, MRPS2, MYMK, NACC2, NOTCH1, NPDC1, OBP2A, OBP2B, OLFM1, PAEP, PAXX, PHPT1, PIERCE1, PMPCA, PPP1R26, PTGDS, QSOX2, RABL6, RALGDS, REXO4, RNU6ATAC, RPL7A, RXRA, SAPCD2, SARDH, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SOHLH1, SPACA9, STKLD1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM250, TRAF2, TSC1, TTF1, UAP1L1, UBAC1, VAV2, WDR5 0 0 1 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 0 0 1 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, KCNT1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 0 0 1 0 0 0 1
ABCA2, AGPAT2, AJM1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CLIC3, DIPK1B, DNLZ, DPP7, EDF1, EGFL7, ENTPD2, ENTR1, FBXW5, FUT7, GPSM1, GRIN1, INPP5E, KCNT1, LCN10, LCN12, LCN15, LCN6, LCN8, LCNL1, LHX3, LINC02908, MAMDC4, MAN1B1, MIR126, NACC2, NOTCH1, NPDC1, PAXX, PHPT1, PMPCA, PTGDS, QSOX2, RABL6, SAPCD2, SEC16A, SNAPC4, SNHG7, TMEM141, TMEM250, TRAF2, UAP1L1, UBAC1 0 0 1 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, EME2, FAHD1, GFER, HAGH, HS3ST6, IGFALS, MEIOB, MIR1225, MLST8, MRPS34, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBC1D24, TBL3, TEDC2, TRAF7, TSC2, ZNF598 0 0 1 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTN3, PGP, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 0 0 1 0 0 0 1
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 1
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LAMA5, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, PPDPF, PRPF6, PTK6, RBBP8NL, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BIRC7, CHRNA4, COL20A1, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, NKAIN4, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 1
ABITRAM, CTNNAL1, ELP1, FRRS1L, MIR32, TMEM245 0 0 1 0 0 0 1
ABL1, AIF1L, AK8, ASB6, ASS1, BARHL1, C9orf50, C9orf78, CEL, CFAP77, CRAT, DDX31, DOLK, DOLPP1, DYNC2I2, ENDOG, EXOSC2, FAM78A, FIBCD1, FNBP1, FUBP3, GFI1B, GPR107, GTF3C4, GTF3C5, HMCN2, IER5L, KYAT1, LAMC3, LINC02913, LRRC8A, MED27, MIGA2, NCS1, NTMT1, NTNG2, NUP188, NUP214, PHYHD1, PKN3, PLPP7, POMT1, PRDM12, PRRC2B, PRRX2, PTGES, PTPA, QRFP, RAPGEF1, SET, SETX, SH3GLB2, SPACA9, SPOUT1, SPTAN1, TBC1D13, TOR1A, TOR1B, TSC1, TTF1, UCK1, USP20, ZDHHC12, ZER1 0 0 1 0 0 0 1
ACAD11, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
ACADVL, AIPL1, ALOX12, ASGR1, ASGR2, BACC1, BCL6B, C17orf100, CLEC10A, DLG4, FBXO39, KIAA0753, MED31, MIR195, MIR497HG, PIMREG, PITPNM3, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, TXNDC17, XAF1 0 0 1 0 0 0 1
ACE2, AP1S2, ASB11, ASB9, BMX, CA5B, CLTRN, FANCB, INE2, MOSPD2, PIGA, PIR, VEGFD, ZRSR2 1 0 0 0 0 0 1
ACE2, AP1S2, BMX, CA5B, CLTRN, INE2, PIGA, PIR, VEGFD, ZRSR2 0 0 1 0 0 0 1
ACOT8, ADA, ARFGEF2, B4GALT5, CCN5, CD40, CDH22, CSE1L, CTSA, DBNDD2, DDX27, DNTTIP1, ELMO2, EPPIN, EPPIN-WFDC6, EYA2, HNF4A, KCNB1, KCNK15, KCNS1, MATN4, MMP9, NCOA3, NCOA5, NEURL2, OCSTAMP, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, PREX1, PTGIS, RBPJL, RIMS4, RNF114, SDC4, SEMG1, SEMG2, SERINC3, SLC12A5, SLC13A3, SLC2A10, SLC35C2, SLC9A8, SLPI, SNX21, SPATA2, SPATA25, SPINT3, SPINT4, STAU1, STK4, SULF2, SYS1, TNNC2, TOMM34, TP53RK, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZMYND8, ZNF334, ZNF335, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 1 0 0 0 0 0 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 1
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 0 0 0 0 1
ADGRG1, ADGRG3, ADGRG5, AMFR, ARL2BP, BBS2, CCDC102A, CCL17, CCL22, CETP, CFAP20, CFAP263, CIAPIN1, CNGB1, CNOT1, COQ9, CPNE2, CSNK2A2, CX3CL1, DOK4, DRC7, GINS3, GNAO1, GOT2, HERPUD1, KATNB1, KIFC3, MIR138-2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NDRG4, NLRC5, NUDT21, NUP93, OGFOD1, PLLP, POLR2C, PRSS54, PSME3IP1, RSPRY1, SETD6, SLC12A3, SLC38A7, SPMIP8, USB1, ZNF319 1 0 0 0 0 0 1
ADM5, AKT1S1, ALDH16A1, AP2A1, BCL2L12, CD37, CPT1C, DKKL1, FCGRT, FLT3LG, FUZ, IL4I1, IRF3, KASH5, MED25, MIR150, NOSIP, NUP62, PIH1D1, PNKP, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RCN3, RPL13A, RPS11, RRAS, SCAF1, SLC17A7, SLC6A16, TBC1D17, TEAD2, TRPM4, TSKS 0 0 1 0 0 0 1
ADM5, ALDH16A1, AP2A1, BCL2L12, C19orf73, CD37, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CPT1C, DKKL1, FCGRT, FLT3LG, FUZ, HRC, IRF3, KASH5, KCNA7, LHB, LIN7B, MED25, MIR150, NOSIP, NTF4, PIH1D1, PNKP, PPFIA3, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RCN3, RPL13A, RPS11, RRAS, SCAF1, SLC17A7, SLC6A16, SNRNP70, TEAD2, TRPM4, TSKS 0 0 1 0 0 0 1
ADRM1, ARFGAP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, GATA5, GID8, HAR1A, HAR1B, KCNQ2, LAMA5, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, RBBP8NL, RPS21, SLC17A9, SLCO4A1, TCFL5, YTHDF1 0 0 1 0 0 0 1
ADSS2, AHCTF1, AKT3, CATSPERE, CEP170, CNST, COX20, DESI2, EFCAB2, EXO1, GCSAML, HNRNPU, KIF26B, LINC02897, LYPD8, MAP1LC3C, NLRP3, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, PGBD2, PLD5, SCCPDH, SDCCAG8, SH3BP5L, SMYD3, SPMIP3, TFB2M, TRIM58, VN1R5, ZBTB18, ZNF124, ZNF496, ZNF669, ZNF670, ZNF672, ZNF692, ZNF695 0 1 0 0 0 0 1
ADSS2, AKT3, CATSPERE, COX20, DESI2, HNRNPU, SPMIP3, ZBTB18 1 0 0 0 0 0 1
ADSS2, C1orf100, CATSPERE, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, SMYD3, TFB2M 0 1 0 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, NDUFV3, PDE9A, PDXK, PKNOX1, PWP2, RRP1, RRP1B, RSPH1, SIK1, SLC37A1, TRAPPC10, U2AF1, WDR4 0 0 1 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10, U2AF1 0 0 1 0 0 0 1
AIPL1, C17orf100, C1QBP, DERL2, DHX33, KIAA0753, MED31, MIS12, NLRP1, NUP88, PIMREG, PITPNM3, RPAIN, SLC13A5, TXNDC17, WSCD1 0 0 1 0 0 0 1
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 1 0 0 0 0 0 1
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, EEIG1, ENG, FPGS, GARNL3, LCN2, LMX1B, LRSAM1, MIR199B, MIR2861, NAIF1, NIBAN2, PIP5KL1, PTGES2, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 1 0 1 0 0 0 1
AK1, ANGPTL2, CDK9, CFAP157, DPM2, ENG, FPGS, GARNL3, LMX1B, LRSAM1, MIR2861, MVB12B, NIBAN2, NRON, PBX3, PIP5KL1, PTRH1, RALGPS1, RPL12, SH2D3C, SLC2A8, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZBTB34, ZBTB43, ZNF79 1 0 0 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, LOC101929270, LOC102723566, LOC106783495, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC124310652, LOC124310653, LOC124310654, LOC126860771, LOC129390114, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, LOC130002712, LOC130002713, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1 1 0 0 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, MIR199B, MIR2861, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1 1 0 0 0 0 0 1
AKR1A1, ARMH1, ARTN, ATP6V0B, B4GALT2, BEST4, BTBD19, CCDC17, CCDC24, DMAP1, DPH2, DYNLT4, EIF2B3, ERI3, GPBP1L1, HECTD3, HPDL, IPO13, IPP, KIF2C, KLF17, MAST2, MMACHC, MUTYH, NASP, PIK3R3, PLK3, POMGNT1, PRDX1, PTCH2, RNF220, RPS8, SLC6A9, ST3GAL3, TESK2, TMEM53, TMEM69, TOE1, TSPAN1, UROD, ZSWIM5 0 0 1 0 0 0 1
ALAS2 0 0 0 0 1 0 1
ALG13, CAPN6, CHRDL1, DCX, PAK3 0 0 1 0 0 0 1
ALG6, ATG4C, DOCK7, FOXD3 0 0 1 0 0 0 1
ALX3, KCNA10, KCNA2, KCNC4, LAMTOR5, PROK1, RBM15, SLC16A4, SLC6A17, UBL4B 1 0 0 0 0 0 1
AMDHD2, ATP6V0C, BICDL2, CEMP1, CLDN6, CLDN9, ELOB, FLYWCH1, FLYWCH2, HCFC1R1, IL32, KCTD5, KREMEN2, MMP25, PAQR4, PDPK1, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SRRM2, TBC1D24, THOC6, TNFRSF12A, ZG16B, ZSCAN10 1 0 0 0 0 0 1
AMER1, ARHGEF9 0 0 1 0 0 0 1
AMER1, ARHGEF9, ASB12, MTMR8, ZC4H2 0 0 1 0 0 0 1
AMIGO3, APEH, BSN, C3orf18, CACNA2D2, CAMKV, CDHR4, CISH, CYB561D2, DAG1, GMPPB, GNAI2, GNAT1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, INKA1, IP6K1, LSMEM2, MAPKAPK3, MON1A, MST1, MST1R, NAA80, NPRL2, RASSF1, RBM5, RBM6, RNF123, SEMA3B, SEMA3F, SLC38A3, TMEM115, TRAIP, TUSC2, UBA7, ZMYND10 1 0 0 0 0 0 1
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 1 0 0 0 0 0 1
ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, CARS1, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, 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, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NUP98, OSBPL5, PGAP2, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PTDSS2, RASSF7, RHOG, RNH1, RPLP2, SCT, SIGIRR, SLC22A18, SLC22A18AS, SLC25A22, STIM1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 0 0 1 0 0 0 1
ANXA2R, C5orf34, CCDC152, CCL28, FGF10, GHR, HCN1, HMGCS1, MRPS30, NNT, PAIP1, SELENOP, TMEM267, ZNF131 0 0 1 0 0 0 1
AP3B2 0 1 0 0 0 0 1
APOLD1, ARHGDIB, ART4, ATF7IP, BCL2L14, BORCS5, C12orf60, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, EPS8, ERP27, ETV6, FAM234B, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, H2AJ, H4C16, HEBP1, LRP6, MANSC1, MGP, PDE6H, PLBD1, PTPRO, RERG, SMCO3, WBP11 0 0 1 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, EEF1A2, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 0 0 1 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 1 0 0 0 0 0 1
ARFGAP1, BIRC7, CHRNA4, COL20A1, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, NKAIN4, PPDPF, PTK6, RTEL1, SRMS, STMN3, YTHDF1 1 0 0 0 0 0 1
ARFGEF2, CSE1L, DDX27, KCNB1, STAU1, ZNFX1 0 0 1 0 0 0 1
ARL13A, ARMCX1, ARMCX2, ARMCX3, ARMCX4, ARMCX6, BTK, CENPI, CSTF2, DRP2, GLA, HNRNPH2, NOX1, NXF5, PCDH19, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TNMD, TRMT2B, TSPAN6, XKRX 0 0 1 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 1
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, CMIP, DYNLRB2, GAN, GCSH, MAF, PKD1L2, PLCG2, WWOX 1 0 0 0 0 0 1
ATP5PO, CFAP298, CLIC6, CRYZL1, DNAJC28, DONSON, EPCIP, EVA1C, GART, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, MIS18A, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, RCAN1, RUNX1, SCAF4, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, URB1 0 0 1 0 0 0 1
BEND2, CDKL5, NHS, RAI2, SCML1, SCML2 1 0 0 0 0 0 1
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS, ZNF490, ZNF564, ZNF791 1 0 0 0 0 0 1
BRF1, LOC130056677, PACS2 0 0 1 0 0 0 1
BRF1, PACS2 0 0 1 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 0 1
C3AR1, CLEC4C, DPPA3, FOXJ2, GDF3, NANOG, NANOGNB, NECAP1, SLC2A14, SLC2A3 0 0 1 0 0 0 1
C3AR1, NECAP1 0 0 1 0 0 0 1
C9orf163, CAMSAP1, CARD9, DNLZ, ENTR1, GPSM1, INPP5E, KCNT1, LHX3, NACC2, NOTCH1, PMPCA, QSOX2, SEC16A, SNAPC4, TMEM250, UBAC1 0 0 1 0 0 0 1
CACNA1A, IER2, NACC1, STX10 0 0 1 0 0 0 1
CACNA2D2, CYB561D2, NPRL2, TMEM115, ZMYND10 0 0 1 0 0 0 1
CDHR5, CEND1, DEAF1, DRD4, EPS8L2, GATD1, HRAS, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, PHRF1, RASSF7, SCT, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 0 1
CDKL5, LOC121853052, LOC130067999 1 0 0 0 0 0 1
CEND1, DEAF1, EPS8L2, GATD1, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 0 1
CFAP157, NIBAN2, PTRH1, SH2D3C, STXBP1, TOR2A, TTC16 1 0 0 0 0 0 1
CFAP157, PTRH1, STXBP1, TTC16 1 0 0 0 0 0 1
CFAP298, CFAP298-TCP10L, LOC125418061, LOC130066544, LOC130066545, SYNJ1 0 0 1 0 0 0 1
CGN, LYSMD1, PI4KB, PIP5K1A, POGZ, PSMB4, PSMD4, RFX5, SCNM1, SELENBP1, SNX27, TMOD4, TNFAIP8L2, TUFT1, VPS72, ZNF687 0 0 1 0 0 0 1
CGN, POGZ, PSMB4, RFX5, SELENBP1, SNX27, TUFT1 1 0 0 0 0 0 1
CHD2, LOC130057985 0 0 0 1 0 0 1
CHRNA4 0 0 1 0 0 0 1
CHRNA4, COL20A1, KCNQ2 0 1 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, SRMS 0 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 1 0 1 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 1
CLEC3A, LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC126862410, LOC126862411, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090888, VAT1L, WWOX 0 0 1 0 0 0 1
CNST, COX20, DESI2, EFCAB2, HNRNPU, KIF26B, SMYD3, TFB2M 0 1 0 0 0 0 1
COX20, HNRNPU 1 0 0 0 0 0 1
CSNK1E, LOC126863148, TPTEP2-CSNK1E 1 0 0 0 0 0 1
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC126806396, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN9A, TTC21B 0 0 1 0 0 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN7A, SCN9A, TTC21B, XIRP2 1 0 0 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 0 1
CSTF2, NOX1, PCDH19, SRPX2, SYTL4, TNMD, TSPAN6 1 0 0 0 0 0 1
CYFIP2, LOC126807569, NIPAL4-DT 1 0 0 0 0 0 1
DDX27, KCNB1, LOC112694720, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, SNORD12, SNORD12B, SNORD12C, STAU1, ZFAS1, ZNFX1 0 0 1 0 0 0 1
DENND5A, LOC130005268 0 0 0 1 0 0 1
DENND5A, TMEM41B 0 0 1 0 0 0 1
DIAPH2, FAM133A, NAP1L3, PABPC5, PCDH11X, PCDH19, RPA4, TGIF2LX 1 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 1
DYNC2I2, GLE1, SPTAN1 0 1 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212 0 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 1 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC132090595, LOC132090596 1 0 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 1 0 0 0 0 0 1
EP300, LOC126863158 0 0 0 0 0 1 1
FBXO28, LOC129932579 0 0 1 0 0 0 1
FGF10, HCN1, MRPS30 0 0 1 0 0 0 1
GALNT3, SCN1A, TTC21B 1 0 0 0 0 0 1
GATM 0 0 1 0 0 0 1
HCN1, LOC126807381 0 0 1 0 0 0 1
KCNQ2, LOC125387319 1 0 0 0 0 0 1
KCNQ2, LOC125387319, LOC129391211 1 0 0 0 0 0 1
KCNQ3 0 0 0 0 0 1 1
KCNT1, SOHLH1 0 0 1 0 0 0 1
KMT2C 0 0 1 0 0 0 1
LMX1B 1 0 0 0 0 0 1
LOC102724058, LOC129935046, LOC129935047, SCN1A, SCN9A, TTC21B 1 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC110120570, LOC112486209, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 1 0 0 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC121530581, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LYSMD2, SCG3, TMOD2 0 0 1 0 0 0 1
LOC123477793, PPP3CA 0 0 0 1 0 0 1
LOC125177355, LOC132090431, LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 1
LOC125384577, PLCB1, RNU105B 0 0 1 0 0 0 1
LOC129930379, SZT2 0 0 1 0 0 0 1
LOC129936554, TRAK1 0 0 0 0 1 0 1
LOC129937585, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
LOC129992871, PPP3CA 0 0 0 0 1 0 1
LOC130065540, NAPB 0 0 1 0 0 0 1
LOC132090430, WWOX 1 0 0 0 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 1
LRSAM1, NIBAN2, STXBP1 1 0 0 0 0 0 1
MAPK10 0 0 1 0 0 0 1
MDH1, WDPCP 1 0 0 0 0 0 1
MECP2 0 0 1 0 0 0 1
MED25, PNKP, PTOV1 1 0 0 0 0 0 1
MIR6857, SMC1A 0 0 1 0 0 0 1
NCF2 0 0 0 0 1 0 1
NIPBL 0 0 0 1 0 0 1
NRXN2 0 0 1 0 0 0 1
NSF 0 1 0 0 0 0 1
NUSAP1 0 1 0 0 0 0 1
PIDD1 0 0 0 1 0 0 1
POLG 0 0 1 0 0 0 1
REPS2 0 0 1 0 0 0 1
SCN1A, SCN7A, SCN9A 1 0 0 0 0 0 1
SCN1A, SCN7A, SCN9A, TTC21B 1 0 0 0 0 0 1
SCN1A, SCN9A, TTC21B 1 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 1
SLC35A2 0 0 1 0 0 0 1
TNK2 0 0 1 0 0 0 1
UFSP2 0 0 1 0 0 0 1
ZEB2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 272
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 3168 934 14935 16617 2100 0 37750
Genome-Nilou Lab 9 24 614 428 763 0 1838
Fulgent Genetics, Fulgent Genetics 49 18 318 272 27 0 684
OMIM 537 0 1 0 0 0 538
Institute of Human Genetics, University of Leipzig Medical Center 141 173 193 13 3 0 522
Baylor Genetics 69 58 281 0 0 0 407
Revvity Omics, Revvity 19 25 308 6 0 0 358
Neuberg Centre For Genomic Medicine, NCGM 36 55 243 0 0 0 334
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 108 32 129 6 0 0 275
Mendelics 125 70 25 15 19 0 254
New York Genome Center 8 15 226 2 0 0 251
Center for Bioinformatics, Peking University 223 0 0 0 0 0 223
3billion 56 64 49 40 0 0 209
Illumina Laboratory Services, Illumina 7 7 156 20 17 0 207
UniProtKB/Swiss-Prot 0 0 0 0 0 151 151
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 27 25 88 4 0 0 144
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 8 101 19 0 0 138
Génétique des Maladies du Développement, Hospices Civils de Lyon 71 48 11 6 2 0 138
GeneReviews 2 0 0 0 0 125 127
Genetic Services Laboratory, University of Chicago 39 22 54 1 1 0 117
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 91 91
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 62 26 0 0 0 0 88
RettBASE 75 8 4 0 0 0 87
MGZ Medical Genetics Center 19 26 34 1 0 0 80
Juno Genomics, Hangzhou Juno Genomics, Inc 30 24 26 0 0 0 80
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 31 21 20 0 0 0 72
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 23 16 28 2 0 0 69
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 7 50 2 3 0 64
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 23 36 0 0 0 63
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 25 28 1 0 0 0 54
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 14 19 18 0 1 0 52
NeuroMeGen, Hospital Clinico Santiago de Compostela 10 36 3 0 0 0 49
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 24 14 6 3 0 0 47
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 9 31 2 1 0 46
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 4 39 0 0 0 0 43
MVZ Medizinische Genetik Mainz 4 13 26 0 0 0 43
Centogene AG - the Rare Disease Company 11 9 22 0 0 0 42
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 27 13 0 0 2 0 42
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 6 19 17 0 0 0 42
Lifecell International Pvt. Ltd 12 21 9 0 0 0 42
SIB Swiss Institute of Bioinformatics 4 22 14 0 1 0 41
Center for Molecular Medicine, Children’s Hospital of Fudan University 5 34 0 0 0 0 38
Undiagnosed Diseases Network, NIH 20 11 5 0 0 0 36
GenomeConnect - Brain Gene Registry 0 0 0 0 0 35 35
Neurology Department, Shenzhen Children's Hospital 33 1 0 0 0 0 34
Wendy Chung Laboratory, Columbia University Medical Center 13 20 0 0 0 0 33
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 18 10 5 0 0 0 33
Pediatric Department, Xiangya Hospital, Central South University 26 7 0 0 0 0 33
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 14 12 6 0 0 0 32
GenomeConnect, ClinGen 0 0 0 0 0 31 31
Athena Diagnostics 23 0 0 0 5 0 28
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 13 15 0 0 0 0 28
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 14 14 0 0 0 0 28
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 12 13 2 0 0 0 27
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 7 5 14 0 0 0 26
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 5 7 14 0 0 0 26
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 10 15 0 0 0 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 17 7 0 25
Solve-RD Consortium 0 25 0 0 0 0 25
Center of Excellence for Medical Genomics, Chulalongkorn University 19 3 2 0 0 0 24
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 5 9 9 0 0 0 23
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 7 9 7 0 0 0 23
Molecular Genetics Lab, CHRU Brest 10 10 2 0 0 0 22
Institute of Human Genetics, University of Goettingen 0 8 10 2 0 0 20
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 6 9 5 0 20
PreventionGenetics, part of Exact Sciences 0 1 8 10 1 0 20
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 10 9 1 0 0 0 20
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 20 20
Pediatric Department, Peking University First Hospital 7 11 0 0 0 0 18
Laboratory of Medical Genetics, University of Torino 2 14 2 0 0 0 18
DASA 11 7 0 0 0 0 18
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 7 4 7 0 0 0 18
Houlden Lab, UCL Institute of Neurology 8 8 2 0 0 0 18
Genetics and Molecular Pathology, SA Pathology 7 4 5 0 0 0 16
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 8 6 1 0 0 0 15
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 3 5 7 0 0 0 15
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 5 8 0 14
Blueprint Genetics 3 11 0 0 0 0 14
Breda Genetics srl 1 4 8 1 0 0 14
Institute of Immunology and Genetics Kaiserslautern 9 5 0 0 0 0 14
Clinical Genomics Laboratory, Washington University in St. Louis 2 2 9 0 0 0 13
Service de Génétique Moléculaire, Hôpital Robert Debré 4 7 2 0 0 0 13
Yale Center for Mendelian Genomics, Yale University 0 13 0 0 0 0 13
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 13 13
Center of Genomic medicine, Geneva, University Hospital of Geneva 8 4 0 0 0 0 12
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 4 6 0 0 0 12
Genomics England Pilot Project, Genomics England 2 10 0 0 0 0 12
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 2 2 8 0 0 0 12
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 8 3 0 0 0 0 11
Neurogenetics Research Program, University of Adelaide 0 10 1 0 0 0 11
Pediatrics, MediClubGeorgia 6 5 0 0 0 0 11
Institute of Human Genetics, Cologne University 0 4 6 0 0 0 10
Mayo Clinic Laboratories, Mayo Clinic 1 0 8 1 0 0 10
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 6 2 1 1 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 5 4 0 10
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 2 8 0 0 0 0 10
Pediatric Genetics Clinic, Sheba Medical Center 10 0 0 0 0 0 10
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 4 2 0 0 4 0 10
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 4 0 5 0 0 0 9
Duke University Health System Sequencing Clinic, Duke University Health System 4 5 0 0 0 0 9
Cavalleri Lab, Royal College of Surgeons in Ireland 4 5 0 0 0 0 9
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 6 2 0 0 9
Department of Human Genetics, Hannover Medical School 2 2 5 0 0 0 9
UCLA Clinical Genomics Center, UCLA 2 6 0 0 0 0 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 7 0 0 0 7
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 5 0 0 0 0 7
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 5 0 0 0 7
TIDEX, University of British Columbia 1 5 1 0 0 0 7
Laboratoire de Génétique Moléculaire, CHU Bordeaux 4 3 0 0 0 0 7
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 5 2 0 0 0 7
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 4 2 0 0 1 0 7
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 1 1 3 2 0 0 7
Suma Genomics 4 1 1 1 0 0 7
Molecular Genetics, Royal Melbourne Hospital 1 1 3 1 1 0 7
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 1 2 2 0 0 6
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 3 3 0 0 0 0 6
Simons Lab, The University of Queensland 5 1 0 0 0 0 6
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 4 1 1 0 0 0 6
Neurogenetics Laboratory - MEYER, AOU Meyer 4 2 0 0 0 0 6
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 6 0 0 0 0 0 6
Zarate Arkansas Children's Genetics Clinic, Arkansas Children's Hospital 3 3 0 0 0 0 6
Pediatric Neurology, Shengjing Hospital of China Medical University 1 5 0 0 0 0 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 5 0 0 0 0 0 5
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 2 1 1 0 5
Hadassah Hebrew University Medical Center 1 4 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 2 1 2 0 0 0 5
Institute of Medical Genetics, University of Zurich 5 0 0 0 0 0 5
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 2 1 2 0 0 0 5
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 3 2 0 0 0 0 5
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 4 1 0 0 0 5
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 5 0 0 0 0 0 5
Dr.Nikuei Genetic Center 0 0 0 1 4 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 4 0 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 2 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 0 0 0 0 0 4
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 2 0 0 0 4
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 2 2 0 0 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 4 0 0 0 4
Institute of Human Genetics, Heidelberg University 1 3 0 0 0 0 4
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 1 2 0 0 0 4
Institute of Human Genetics, University Hospital Muenster 1 0 1 2 0 0 4
Pediatrics, West China Second University Hospital, Sichuan University 1 2 1 0 0 0 4
School of Medicine NGS Core Facility, Fu Jen Catholic University 4 0 0 0 0 0 4
Palindrome, Gene Kavoshgaran Aria 4 0 0 0 0 0 4
Neurogenetics, Research Centre for Medical Genetics 0 3 1 0 0 0 4
Breakthrough Genomics, Breakthrough Genomics 4 0 0 0 0 0 4
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 1 0 0 0 3
Dobyns Lab, Seattle Children's Research Institute 1 2 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Division of Medical Genetics; Sainte-Justine Hospital 3 0 0 0 0 0 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 1 0 0 2 0 0 3
Genomic Medicine Lab, University of California San Francisco 1 2 0 0 0 0 3
Wu Jinyu Laboratory, Institute of Genomic Medicine, Wenzhou Medical University 3 0 0 0 0 0 3
Pediatric Neurology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research 3 0 0 0 0 0 3
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 3 0 0 0 3
Molecular Genetics Laboratory, Motol Hospital 1 2 0 0 0 0 3
Fondazione Telethon, Telethon Institute of Genetics and Medicine 3 0 0 0 0 0 3
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 2 0 0 0 3
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 2 0 0 0 0 3
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 2 0 1 0 0 0 3
Department of Clinical Genetics, Medical University of Lodz 0 3 0 0 0 0 3
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 2 0 0 0 0 0 2
Care4Rare-SOLVE, CHEO 0 0 2 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 0 1 0 0 0 2
Research Centre for Medical Genetics, Research Centre for Medical Genetics 0 2 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 1 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 1 0 0 0 2
Human Genetics Unit, University Of Colombo 0 2 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 1 0 0 0 2
Institute for Biomedicine, Eurac Research 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 1 0 0 0 0 2
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 2 0 0 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
VIB - Center for Molecular Neurology, University of Antwerp 0 2 0 0 0 0 2
Section for Clinical Neurogenetics, University of Tübingen 0 1 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 1 0 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 1 1 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 1 1 0 0 0 0 2
Department of Pediatric Neurology and Endocrinology, Affiliated Hospital of Qingdao University 2 0 0 0 0 0 2
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 1 1 0 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 0 1 1 0 0 0 2
Eurofins-Biomnis 1 1 0 0 0 0 2
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 1 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 1 0 0 0 0 2
Department of Neurology, Children’s Hospital of Chongqing Medical University 1 0 1 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 1 0 0 0 0 2
University of British Columbia, BC Children's Hospital 0 2 0 0 0 0 2
Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia of Catanzaro 1 1 0 0 0 0 2
Igenomix - Part of Vitrolife Group, Igenomix 0 1 1 0 0 0 2
Faculty of Engineering and Natural Sciences, Biruni University 0 1 1 0 0 0 2
Courtagen Diagnostics Laboratory, Courtagen Life Sciences 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 1 0 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 1 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Department of Pediatrics, 1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 1
Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 1 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 0 1 0 0 0 0 1
Center for Statistical Genetics, Columbia University 0 1 0 0 0 0 1
Department of Medical Genetics, National Institute of Health 1 0 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Phosphorus, Inc. 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Centre for Arab Genomic Studies, Sheikh Hamdan Award for Medical Sciences 1 0 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Cipher Gene Genetics Laboratory, Cipher Gene, Inc 0 1 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford 0 0 0 1 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 1
Genatak 1 0 0 0 0 0 1
Translational Oncology and Experimental Therapeutics Program-IBMCC, Consejo Superior de Investigaciones Científicas 1 0 0 0 0 0 1
Poduri Lab, Boston Children's Hospital 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 1 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 1 0 0 0 0 0 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 1 0 0 0 0 0 1
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre 0 1 0 0 0 0 1
Acibadem Labgen Genetic Diagnostic Center 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
National Institute for Data Science in Health and Medicine, School of Medicine, Xiamen University 1 0 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Clinical Cytogenetics Laboratory, London Health Science Centre 1 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Dr Sami Ulus Medical Genetics Department, Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases 1 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 1
Research Center for Genetics and Reproductive Health, Viet Nam National University HCMC 1 0 0 0 0 0 1
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences 0 1 0 0 0 0 1
Genoks Genetic Disorders Diagnostic Laboratory 1 0 0 0 0 0 1
Institute of Molecular Medicine and Oncology, Chongqing Medical University 1 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 0 1
AUSL-IRCCS di Reggio Emilia, Arcispedale Santa Maria Nuova 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Running-Gene Inc. 1 0 0 0 0 0 1
Massachusetts General Hospital Undiagnosed Diseases Network, Massachusetts General Hospital 1 0 0 0 0 0 1
Pediatric EEG Lab, Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 0 1
Department of Pediatrics, The Affiliated Hospital of Qingdao University 0 1 0 0 0 0 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 1
Laboratory of genome editing, Research Centre for Medical Genetics 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 0 0 1 0 0 0 1
Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine 0 1 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 1 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 1
Fetal Health Research Center, Hope Generation Foundation 0 1 0 0 0 0 1
Yang Lab, Women and Children's Hospital Affiliated to Xiamen University 1 0 0 0 0 0 1
Laboratory of Molecular Instruments for Neurobiology, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry of the Russian Academy of Sciences 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1

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