ClinVar Miner

Variants studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (108):
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 affects association risk factor not provided total
1372 691 10809 9540 1423 2 1 18 206 23278

Gene and significance breakdown #

Total genes and gene combinations: 190
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
RELN 41 16 1012 1040 152 0 0 0 7 2206
DEPDC5 249 86 871 633 62 0 0 0 66 1898
KCNT1 34 17 741 991 120 0 0 0 5 1848
GRIN2A 137 137 654 715 169 0 0 0 10 1706
CHD2 185 81 621 685 81 0 0 0 4 1623
KCNMA1 12 10 489 510 38 0 0 0 4 1019
SLC6A1 72 55 223 307 78 0 0 0 17 717
CHRNA4 3 2 313 356 48 0 0 0 4 701
HBA-LCR, NPRL3 75 32 317 220 29 0 0 0 2 663
CACNA1H 0 1 364 247 23 0 0 4 5 641
CHRNA2 2 1 336 260 65 0 0 0 3 640
GABRG2 76 35 249 169 25 0 0 0 0 527
GABRB3 42 33 201 200 22 0 0 3 2 488
GABRA1 27 17 242 174 42 0 0 4 0 484
RELN, SLC26A5 7 1 224 235 25 0 0 0 1 473
LMNB2 1 0 212 221 39 0 0 0 0 469
DNM1 14 11 158 246 41 0 0 0 0 466
CHRNB2 4 3 242 201 18 0 0 0 3 461
PRICKLE1 5 0 251 129 15 0 0 0 2 394
LGI1 37 14 195 137 10 0 0 0 6 389
SCARB2 26 9 183 165 12 0 0 0 17 388
KCNC1 4 10 191 171 14 0 0 0 0 386
EFHC1 2 0 237 107 33 0 1 5 1 360
PRDM8 1 0 187 123 13 0 0 0 0 324
KCTD7 24 22 173 98 21 2 0 0 0 318
NHLRC1 27 10 185 88 16 0 0 0 5 317
SERPINI1 6 0 186 105 23 0 0 0 0 314
CERS1, GDF1 3 1 130 135 9 0 0 0 0 276
EPM2A 23 5 99 62 7 0 0 0 2 193
GOSR2, LRRC37A2 8 2 109 66 12 0 0 0 0 191
EPM2A, EPM2A-DT, LOC129997381 14 7 82 59 3 0 0 0 2 161
PRICKLE2 1 0 116 12 25 0 0 0 0 153
NPRL3 36 7 80 19 1 0 0 0 0 142
PRIMA1 4 0 63 64 6 0 0 0 0 137
CACNB4 1 0 46 46 12 0 0 1 2 106
DNM1, LOC113839516 2 8 37 45 8 0 0 0 0 99
CSTB 9 4 51 32 4 0 0 0 11 98
LOC126860130, RELN, SLC26A5 2 1 37 50 7 0 0 0 1 95
SRPX2 2 1 53 29 10 0 0 0 0 91
GOSR2, LOC126862578, LRRC37A2 8 3 46 20 4 0 0 0 0 78
LOC126861509, PRICKLE1 0 0 50 23 2 0 0 0 1 75
KCTD7, LOC129998533 2 0 40 24 2 0 0 0 1 68
CHRNA4, LOC126863087 0 0 24 38 4 0 0 0 2 64
CHRNA4, LOC100130587 0 0 25 33 6 0 0 0 0 60
SCN3A 7 1 37 4 9 0 0 0 1 57
GAL 1 0 35 13 5 0 0 0 0 54
LOC126860131, RELN 0 0 17 33 5 0 0 0 0 54
CLCN2 2 4 20 20 3 0 0 1 0 49
LOC126807094, PRDM8 0 0 26 18 1 0 0 0 0 45
CHD2, LOC126862230 5 0 13 24 1 0 0 0 0 43
CPA6 3 0 37 1 2 0 0 0 0 42
CSTB, LOC130066788 2 3 20 15 2 0 0 0 2 39
CIZ1, DNM1 2 3 14 14 3 0 0 0 0 35
ARFGEF1-DT, CPA6 1 0 28 5 1 0 0 0 0 34
NPRL2 6 9 21 0 0 0 0 0 1 34
DNM1, LOC130002698 2 1 10 15 2 0 0 0 0 30
LOC129992745, PRDM8 0 0 16 9 1 0 0 0 0 26
LMNB2, LOC130063066 0 0 14 9 2 0 0 0 0 25
TBC1D24 7 2 12 3 1 0 0 0 1 25
CLN8 1 4 14 4 2 0 0 0 1 24
DNM1, LOC130002699 1 0 11 9 3 0 0 0 0 24
GABRA6 0 0 3 7 11 0 0 0 0 21
CHRNB2, LOC129931511 0 0 13 6 0 0 0 0 0 19
SEMA6B 3 5 5 2 5 0 0 0 0 19
LOC129992744, PRDM8 0 0 9 7 2 0 0 0 0 18
LMNB2, LOC130063065 0 0 3 10 1 0 0 0 0 14
LOC130007700, PRICKLE1 1 1 7 3 0 0 0 0 1 11
SZT2 11 0 0 0 0 0 0 0 0 11
LMNB2, MIR7108 0 0 1 8 1 0 0 0 0 10
SPTAN1 7 0 1 0 0 0 0 0 0 8
CHRNA4, KCNQ2 0 0 7 0 0 0 0 0 0 7
MICAL1 1 2 2 2 0 0 0 0 0 7
CACNB4, LOC129934925 0 0 3 4 1 0 0 0 0 6
CNTNAP2 6 0 0 0 0 0 0 0 0 6
KCNQ3 4 0 0 0 0 0 0 0 1 5
LOC122965327, PRICKLE2 0 0 4 0 1 0 0 0 0 5
PDCD10, SERPINI1 0 0 3 1 1 0 0 0 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 0 0 5
SCN2A 2 0 1 0 0 0 0 0 2 5
DNM1, LOC130002697 0 0 0 4 0 0 0 0 0 4
GABRB3, LOC126862078 2 0 2 0 0 0 0 0 0 4
MPG, NPRL3, POLR3K, RHBDF1, SNRNP25 3 0 1 0 0 0 0 0 0 4
NPR2, SPAG8 0 3 1 0 0 0 0 0 0 4
ASAH1 3 0 0 0 0 0 0 0 0 3
DEPDC5, PRR14L 2 1 0 0 0 0 0 0 0 3
KCNQ2 1 0 0 0 0 0 0 0 2 3
RBFOX1 3 0 0 0 0 0 0 0 0 3
SPAG1 3 0 0 0 0 0 0 0 0 3
STRADA 3 0 0 0 0 0 0 0 0 3
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 1 0 1 0 0 0 0 0 0 2
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 0 0 2 0 0 0 0 0 0 2
AGPAT3, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 0 0 0 0 2
CACNA1G 0 0 0 0 0 0 0 0 2 2
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 2 0 0 0 0 0 0 2
CRH 0 0 0 0 0 0 0 0 2 2
CSTB, LOC109029533, LOC130066788 2 0 0 0 0 0 0 0 0 2
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5 1 0 1 0 0 0 0 0 0 2
GABRA1, GABRA6, GABRB2, GABRG2 1 0 1 0 0 0 0 0 0 2
GABRA1, GABRG2 1 1 0 0 0 0 0 0 0 2
GOSR2 1 0 1 0 0 0 0 0 0 2
GOSR2, WNT3, WNT9B 1 0 1 0 0 0 0 0 0 2
GRIN2B 0 0 1 0 0 0 0 0 1 2
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 1 2
SCN1B 1 0 1 0 0 0 0 0 0 2
SLC2A1 2 0 0 0 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 0 0 0 2
ABAT, ATF7IP2, CARHSP1, CIITA, CLEC16A, DEXI, EMP2, GRIN2A, HAPSTR1, LITAF, NUBP1, PMM2, PRM1, PRM2, PRM3, RMI2, SOCS1, TEKT5, TMEM186, TNP2, TVP23A, USP7 0 0 1 0 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 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 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 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 0 0 0 1
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 1 0 0 0 0 0 0 0 0 1
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC2A4RG, SOX18, SRMS, STMN3, TNFRSF6B, TPD52L2, UCKL1, ZBTB46, ZGPAT, ZNF512B 0 0 1 0 0 0 0 0 0 1
ABHD17A, ADAMTSL5, ADAT3, AMH, AP3D1, APC2, ATP8B3, BTBD2, C19orf25, CSNK1G2, DOT1L, IZUMO4, JSRP1, KLF16, LINGO3, LMNB2, LSM7, MBD3, MEX3D, MIR1909, MKNK2, MOB3A, OAZ1, ONECUT3, PCSK4, PEAK3, PLEKHJ1, PLK5, REEP6, REXO1, SCAMP4, SF3A2, SPPL2B, TCF3, TIMM13, TMPRSS9, UQCR11 0 0 1 0 0 0 0 0 0 1
ADAR, CHRNB2 0 0 1 0 0 0 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10, U2AF1 1 0 0 0 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 0 0 1 0 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 0 0 0 1
AMDHD2, ATP6V0C 0 1 0 0 0 0 0 0 0 1
ANO4 0 1 0 0 0 0 0 0 0 1
ANTXR2, PRDM8 0 0 1 0 0 0 0 0 0 1
APP 0 0 1 0 0 0 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 0 0 0 1
ARL13A, BTK, CENPI, CSTF2, DRP2, GLA, NOX1, RPL36A, RPL36A-HNRNPH2, SRPX2, SYTL4, TAF7L, TIMM8A, TMEM35A, TRMT2B, XKRX 0 0 1 0 0 0 0 0 0 1
ARMC6, BORCS8, CERS1, COMP, COPE, DDX49, GDF1, HOMER3, MEF2B, NR2C2AP, RFXANK, SLC25A42, SUGP2, TMEM161A, UPF1 0 0 1 0 0 0 0 0 0 1
ARPC4, ARPC4-TTLL3, ATP2B2, BRK1, BRPF1, CAMK1, CIDEC, CPNE9, CRELD1, EMC3, FANCD2, FANCD2OS, GHRL, GHRLOS, IL17RC, IL17RE, IRAK2, JAGN1, MTMR14, OGG1, PRRT3, RPUSD3, SEC13, SLC6A1, SLC6A11, TADA3, TATDN2, TTLL3, VHL 1 0 0 0 0 0 0 0 0 1
ART3, CCDC158, CDKL2, CXCL10, CXCL11, CXCL9, FAM47E, FAM47E-STBD1, G3BP2, NAAA, NUP54, ODAPH, PPEF2, SCARB2, SDAD1, SHROOM3, STBD1, USO1 1 0 0 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3 1 0 0 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, OCA2 1 0 0 0 0 0 0 0 0 1
ATP2B2, BRK1, FANCD2, FANCD2OS, GHRL, GHRLOS, IRAK2, SEC13, SLC6A1, SLC6A11, TATDN2, VHL 1 0 0 0 0 0 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 0 0 0 1
CACNA1A 0 0 0 0 0 0 0 0 1 1
CAPRIN1 1 0 0 0 0 0 0 0 0 1
CCDC25, CHRNA2, CLU, ELP3, EPHX2, ESCO2, EXTL3, FBXO16, FZD3, NUGGC, PBK, PNOC, SCARA3, SCARA5, ZNF395 0 0 1 0 0 0 0 0 0 1
CEP55, FFAR4, FRA10AC1, LGI1, MYOF, PDE6C, RBP4 1 0 0 0 0 0 0 0 0 1
CHRNA1 0 0 1 0 0 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 0 0 0 0 1
CLN3 0 0 1 0 0 0 0 0 0 1
CRH, LOC130000523 0 0 0 0 0 0 0 0 1 1
CSRP3, GTF2H1, HPS5, IGSF22, KCNC1, LDHA, LDHAL6A, LDHC, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MYOD1, OTOG, PTPN5, SAA1, SAA2, SAA2-SAA4, SAA4, SAAL1, SERGEF, SPTY2D1, TMEM86A, TPH1, TSG101, UEVLD, USH1C, ZDHHC13 0 0 1 0 0 0 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 0 0 0 0 1
DEPDC5, LOC125446219 0 0 1 0 0 0 0 0 0 1
DEPDC5, LOC125446219, LOC126863124, LOC130067262 1 0 0 0 0 0 0 0 0 1
DEPDC5, LOC130067262 1 0 0 0 0 0 0 0 0 1
DEPDC5, RFPL2 0 1 0 0 0 0 0 0 0 1
DIRAS1, GADD45B, GNA11, GNG7, LMNB2, SGTA, SLC39A3, THOP1, TLE2, TLE5, TLE6, ZNF554, ZNF555, ZNF556, ZNF77 0 0 1 0 0 0 0 0 0 1
DLG5, KCNMA1 0 0 1 0 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 0 0 0 1
GABRA1, GABRA6 0 0 1 0 0 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 0 0 0 1
GABRA5, GABRB3, GABRG3, HERC2, OCA2 0 0 1 0 0 0 0 0 0 1
GABRB3, LOC126862077, LOC126862078 0 0 1 0 0 0 0 0 0 1
GATM 0 0 1 0 0 0 0 0 0 1
GRIN1 1 0 0 0 0 0 0 0 0 1
GRIN2A, LOC130058418 0 1 0 0 0 0 0 0 0 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 0 0 0 0 0 0 1
IER3IP1 1 0 0 0 0 0 0 0 0 1
ITSN2 0 0 1 0 0 0 0 0 0 1
KAT6B 1 0 0 0 0 0 0 0 0 1
KCNA1 0 1 0 0 0 0 0 0 0 1
KCNH8 0 1 0 0 0 0 0 0 0 1
KCNT1, SOHLH1 0 0 1 0 0 0 0 0 0 1
KCTD7, LOC129998533, LOC129998534, LOC129998535 0 0 1 0 0 0 0 0 0 1
LOC101927358, MIR6130, RORB 0 1 0 0 0 0 0 0 0 1
LOC102724428 1 0 0 0 0 0 0 0 0 1
LOC121627976, LOC125467769, SRPX2 0 0 1 0 0 0 0 0 0 1
LOC126805704, SNIP1 1 0 0 0 0 0 0 0 0 1
LOC126861509, LOC130007700, LOC130007701, PRICKLE1 0 0 1 0 0 0 0 0 0 1
LOC126862279, RBFOX1 1 0 0 0 0 0 0 0 0 1
LOC129390441, LOC130007703, LOC130007704, LOC130007705, LOC130007706, LOC130007707, PRICKLE1 0 1 0 0 0 0 0 0 0 1
LOC129937857, PDCD10, SERPINI1 0 0 0 0 1 0 0 0 0 1
LOC129992690, SCARB2 0 0 1 0 0 0 0 0 0 1
LOC129992692, LOC129992693, SCARB2 0 0 1 0 0 0 0 0 0 1
MAF, WWOX 1 0 0 0 0 0 0 0 0 1
MAPK10 0 0 1 0 0 0 0 0 0 1
NHLRC1, TPMT 1 0 0 0 0 0 0 0 0 1
NPR2 0 1 0 0 0 0 0 0 0 1
OPLAH 0 0 1 0 0 0 0 0 0 1
PCDH19 1 0 0 0 0 0 0 0 0 1
PCDH19, SRPX2, TNMD, TSPAN6 0 0 1 0 0 0 0 0 0 1
PLCB1 1 0 0 0 0 0 0 0 0 1
POLG, POLGARF 0 0 1 0 0 0 0 0 0 1
PRMT7, SLC7A6OS 1 0 0 0 0 0 0 0 0 1
RBFOX3 1 0 0 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 1 0 0 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 0 0 0 1
SLC7A6OS 0 0 1 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 167
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 1031 287 8942 8995 1088 0 0 0 0 20343
Illumina Laboratory Services, Illumina 4 0 904 171 312 0 0 0 0 1390
Fulgent Genetics, Fulgent Genetics 15 10 562 361 27 0 0 0 0 975
Genome-Nilou Lab 0 0 64 172 133 0 0 0 0 369
Institute of Human Genetics, University of Leipzig Medical Center 27 125 65 8 0 0 0 0 0 225
OMIM 169 0 4 0 0 0 0 18 0 191
Revvity Omics, Revvity 17 11 130 3 0 0 0 0 0 161
GeneReviews 5 0 0 0 0 0 0 0 140 145
Baylor Genetics 17 13 114 0 0 0 0 0 0 144
New York Genome Center 2 9 118 0 0 0 0 0 0 129
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 0 111
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 4 1 56 9 0 0 0 0 0 70
Mendelics 18 21 14 11 4 0 0 0 0 68
Neuberg Centre For Genomic Medicine, NCGM 5 8 48 0 0 0 0 0 0 61
Génétique des Maladies du Développement, Hospices Civils de Lyon 27 21 11 1 0 0 0 0 0 60
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 45 1 1 0 0 0 0 51
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 7 33 2 0 0 0 0 0 46
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 41 41
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 4 17 1 0 0 0 0 0 38
3billion 6 10 10 0 0 0 0 0 0 26
MGZ Medical Genetics Center 1 11 10 1 0 0 0 0 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 6 15 0 0 0 0 23
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 4 5 9 0 0 0 0 0 0 18
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 7 9 0 0 0 0 17
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 17 17
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 7 9 0 0 0 0 0 0 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 6 0 0 0 0 0 0 0 15
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 1 11 0 0 0 0 0 0 15
Athena Diagnostics 0 0 0 0 14 0 0 0 0 14
Centogene AG - the Rare Disease Company 0 2 11 0 0 0 0 0 0 13
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 7 5 0 0 0 0 0 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 5 3 3 0 0 0 0 12
Mayo Clinic Laboratories, Mayo Clinic 1 0 10 0 0 0 0 0 0 11
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 1 7 0 0 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 3 2 0 0 0 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 6 0 0 0 0 0 0 9
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 5 0 0 0 0 0 0 0 9
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 4 5 0 0 0 0 0 0 0 9
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 8 0 0 0 0 0 0 9
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 9 0 0 0 0 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 6 0 0 0 0 0 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 3 1 0 0 0 0 0 0 8
Genetics and Molecular Pathology, SA Pathology 3 1 4 0 0 0 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 8 8
Undiagnosed Diseases Network, NIH 3 3 1 0 0 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 4 1 1 0 0 0 0 0 0 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 5 0 0 0 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 3 0 0 0 0 0 0 6
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 3 1 0 0 0 0 0 0 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 0 0 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 1 3 0 1 0 0 0 0 6
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 3 2 0 0 0 0 0 6
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 4 0 0 0 0 0 0 6
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 3 1 0 0 0 0 0 0 6
DASA 3 3 0 0 0 0 0 0 0 6
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 3 0 0 0 0 0 0 6
MVZ Medizinische Genetik Mainz 0 1 5 0 0 0 0 0 0 6
Duke University Health System Sequencing Clinic, Duke University Health System 1 4 0 0 0 0 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 4 0 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 1 0 0 0 0 0 0 5
Cavalleri Lab, Royal College of Surgeons in Ireland 3 1 1 0 0 0 0 0 0 5
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 5 0 0 0 0 0 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 2 1 0 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 2 0 0 0 0 0 0 4
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 0 0 0 4
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 2 0 0 0 0 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 1 0 0 0 0 0 4
Breda Genetics srl 0 0 4 0 0 0 0 0 0 4
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 3 0 0 0 0 0 0 0 4
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 3 0 1 0 0 0 0 0 0 4
Lifecell International Pvt. Ltd 2 2 0 0 0 0 0 0 0 4
Pediatrics, MediClubGeorgia 1 3 0 0 0 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 1 3 0 0 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 0 0 0 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 2 0 0 0 0 0 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 0 0 0 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 3 0 0 0 0 0 3
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 2 0 0 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 0 0 0 3
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 2 0 0 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 2 0 0 0 0 0 0 3
Neurogenetics Laboratory - MEYER, AOU Meyer 0 1 2 0 0 0 0 0 0 3
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 1 1 0 1 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 0 0 0 0 0 0 0 0 3
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 1 0 0 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 2 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 3
Pediatric Genetics Clinic, Sheba Medical Center 1 1 1 0 0 0 0 0 0 3
Wen Jiang Lab, Comprehensive Epilepsy Center, Xijing Hospital 0 3 0 0 0 0 0 0 0 3
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 0 3 3
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 0 0 0 0 0 0 2
Blueprint Genetics 0 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 0 1 1 0 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 0 2 0 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 0 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 2 0 0 0 0 0 0 2
Clinical Genomics Program, Stanford Medicine 0 0 2 0 0 0 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 0 0 0 2
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 0 1 0 0 0 1 0 0 2
Children’s Center Hospital, Tehran University of Medical Sciences 0 0 0 0 0 2 0 0 0 2
Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education 0 2 0 0 0 0 0 0 0 2
Pediatric Department, Xiangya Hospital, Central South University 2 0 0 0 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 0 0 0 2
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 2 0 0 0 0 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 2 0 0 0 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 1 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 0 0 0 0 0 0 0 0 1
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 0 1 0 0 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 0 0 1
Neurogenetics group, VIB, Antwerp, Belgium 0 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 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 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 1 0 0 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 0 0 1
Fundacion Publica Galega de Medicina Xenomica, Servicio Galego de Saude 0 1 0 0 0 0 0 0 0 1
TIDEX, University of British Columbia 0 1 0 0 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 1 0 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 0 0 0 1
Ambulatório de Genética Médica, Hospital Escola da Universidade Federal de Pelotas 0 1 0 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 0 0 0 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 1 0 0 0 0 0 0 0 1
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 0 1 0 0 0 0 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 0 0 0 1
Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin Children’s Hospital 0 1 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 0 0 1
Department of Neurology, Hunan Children's Hospital 1 0 0 0 0 0 0 0 0 1
Department of Neurology lab, Tongji Hospital, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology 1 0 0 0 0 0 0 0 0 1
Department of Neurodegenerative Diseases, AG Gasser, Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 1 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 0 0 0 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 0 0 0 1
Department of Neurology, Children’s Hospital of Chongqing Medical University 0 0 1 0 0 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 1 0 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 0 1
Pediatrics, Sichuan Provincial Hospital For Women And Children 0 1 0 0 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 0 0 0 1
Watson Genetic Lab 0 1 0 0 0 0 0 0 0 1

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