ClinVar Miner

Variants studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (63):
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 pathogenic, low penetrance not provided total
956 466 8649 7537 1062 2 1 167 18218

Gene and significance breakdown #

Total genes and gene combinations: 157
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance not provided total
RELN 41 17 1013 1040 152 0 0 7 2208
DEPDC5 250 92 876 633 62 0 0 66 1908
KCNT1 34 18 740 991 120 0 0 5 1849
GRIN2A 137 138 660 718 169 0 0 10 1712
KCNMA1 12 11 492 510 38 0 0 4 1023
CHRNA4 3 2 314 356 48 0 0 4 702
CNTN2 18 10 306 322 29 0 0 0 675
HBA-LCR, NPRL3 75 34 317 220 29 0 0 2 665
CHRNA2 2 1 336 260 65 0 0 3 640
RELN, SLC26A5 7 1 225 235 25 0 0 1 474
LMNB2 1 0 212 221 39 0 0 0 469
CHRNB2 4 3 244 201 18 0 0 3 463
PRICKLE1 5 0 251 129 15 0 0 2 394
LGI1 37 15 196 137 10 0 0 6 391
SCARB2 26 9 183 165 12 0 0 17 388
KCNC1 4 10 192 171 14 0 0 0 387
PRDM8 1 0 187 123 13 0 0 0 324
KCTD7 24 22 173 98 21 2 0 0 318
NHLRC1 27 11 185 88 16 0 0 5 318
SERPINI1 6 0 186 105 23 0 0 0 314
CERS1, GDF1 3 1 130 135 9 0 0 0 276
EPM2A 23 5 100 62 7 0 0 2 194
GOSR2, LRRC37A2 8 2 109 66 12 0 0 0 191
EPM2A, EPM2A-DT, LOC129997381 14 9 83 59 3 0 0 2 164
PRICKLE2 1 0 116 12 25 0 0 0 153
NPRL3 36 6 81 19 1 0 0 0 143
PRIMA1 4 0 63 64 6 0 0 0 137
CSTB 9 5 51 32 4 0 0 11 99
LOC126860130, RELN, SLC26A5 2 1 37 50 7 0 0 1 95
GOSR2, LOC126862578, LRRC37A2 8 3 46 20 4 0 0 0 78
LOC126861509, PRICKLE1 0 0 50 23 2 0 0 1 75
KCTD7, LOC129998533 2 0 40 24 2 0 0 1 68
CHRNA4, LOC126863087 0 0 24 38 4 0 0 2 64
CHRNA4, LOC100130587 0 0 25 33 6 0 0 0 60
CNTN2, LOC126805985 3 0 25 26 4 0 0 0 58
SCN3A 7 2 37 4 9 0 0 1 58
GAL 1 0 35 13 5 0 0 0 54
LOC126860131, RELN 0 0 17 33 5 0 0 0 54
LOC126807094, PRDM8 0 0 26 18 1 0 0 0 45
CPA6 3 0 37 1 2 0 0 0 42
CSTB, LOC130066788 2 3 20 15 2 0 0 2 39
NPRL2 6 9 23 0 0 0 0 1 36
ARFGEF1-DT, CPA6 1 0 29 5 1 0 0 0 35
LOC129992745, PRDM8 0 0 16 9 1 0 0 0 26
LMNB2, LOC130063066 0 0 14 9 2 0 0 0 25
CLN8 1 4 14 4 2 0 0 1 24
SEMA6B 3 4 7 2 5 0 0 0 20
CHRNB2, LOC129931511 0 0 13 6 0 0 0 0 19
LOC129992744, PRDM8 0 0 9 7 2 0 0 0 18
LMNB2, LOC130063065 0 0 3 10 1 0 0 0 14
LOC130007700, PRICKLE1 1 1 7 3 0 0 0 1 11
SZT2 11 0 0 0 0 0 0 0 11
YEATS2 1 0 3 1 6 0 0 0 11
LMNB2, MIR7108 0 0 1 8 1 0 0 0 10
SPTAN1 7 0 1 0 0 0 0 0 8
CHRNA4, KCNQ2 0 0 7 0 0 0 0 0 7
MICAL1 1 2 2 2 0 0 0 0 7
CNTNAP2 6 0 0 0 0 0 0 0 6
GABRG2 3 3 0 0 0 0 0 0 6
LOC122965327, PRICKLE2 0 0 4 0 1 0 0 0 5
PDCD10, SERPINI1 0 0 3 1 1 0 0 0 5
SAMD12 3 0 2 0 0 0 0 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 0 5
STARD7 2 0 3 0 0 0 0 0 5
ADRA2B 0 0 4 0 0 0 0 1 4
CHD2 4 0 0 0 0 0 0 0 4
KCNQ3 4 0 0 0 0 0 0 0 4
MARCHF6 2 0 2 0 0 0 0 0 4
MPG, NPRL3, POLR3K, RHBDF1, SNRNP25 3 0 1 0 0 0 0 0 4
NPR2, SPAG8 0 3 1 0 0 0 0 0 4
ASAH1 3 0 0 0 0 0 0 0 3
DEPDC5, PRR14L 2 1 0 0 0 0 0 0 3
RBFOX1 3 0 0 0 0 0 0 0 3
SPAG1 3 0 0 0 0 0 0 0 3
STRADA 3 0 0 0 0 0 0 0 3
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, USP7 1 0 1 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 2
AGPAT3, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 0 0 0 2
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 2 0 0 0 0 0 2
CRH 0 0 0 0 0 0 0 2 2
CSTB, LOC109029533, LOC130066788 2 0 0 0 0 0 0 0 2
DNAJC2, PMPCB, PSMC2, RELN, SLC26A5 1 0 1 0 0 0 0 0 2
GOSR2 1 0 1 0 0 0 0 0 2
GOSR2, WNT3, WNT9B 1 0 1 0 0 0 0 0 2
KCNQ2 0 0 0 0 0 0 0 2 2
SCN2A 2 0 0 0 0 0 0 0 2
TBC1D24 2 0 0 0 0 0 0 0 2
WWOX 2 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 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 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 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 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 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 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 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 1
ADAR, CHRNB2 0 0 1 0 0 0 0 0 1
ADIPOR1, ADORA1, ARL8A, ASCL5, ATP2B4, AVPR1B, BTG2, CACNA1S, CAMSAP2, CDK18, CHI3L1, CHIT1, CNTN2, CSRP1, CTSE, CYB5R1, DDX59, DSTYK, DYRK3, EIF2D, ELF3, ELK4, ETNK2, FAM72A, FMOD, GOLT1A, GPR25, GPR37L1, IGFN1, IKBKE, IL10, INAVA, IPO9, KDM5B, KIF14, KIF21B, KISS1, KLHDC8A, KLHL12, LAD1, LAX1, LEMD1, LGR6, LMOD1, LRRN2, MAPKAPK2, MDM4, MFSD4A, MYBPH, MYOG, NAV1, NFASC, NUAK2, NUCKS1, OPTC, PCAT6, PHLDA3, PIK3C2B, PKP1, PLEKHA6, PM20D1, PPFIA4, PPP1R12B, PPP1R15B, PRELP, PTPN7, RAB29, RABIF, RASSF5, RBBP5, REN, RHEX, RNPEP, SHISA4, SLC26A9, SLC41A1, SLC45A3, SNRPE, SOX13, SRGAP2, SYT2, TIMM17A, TMCC2, TMEM183A, TMEM81, TMEM9, TNNI1, TNNT2, UBE2T, ZBED6, ZC3H11A 0 0 1 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 1
ANO4 0 1 0 0 0 0 0 0 1
ANTXR2, PRDM8 0 0 1 0 0 0 0 0 1
APP 0 0 1 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 1
ARMC6, BORCS8, CERS1, COMP, COPE, DDX49, GDF1, HOMER3, MEF2B, NR2C2AP, RFXANK, SLC25A42, SUGP2, TMEM161A, UPF1 0 0 1 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 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 1
CCDC25, CHRNA2, CLU, ELP3, EPHX2, ESCO2, EXTL3, FBXO16, FZD3, NUGGC, PBK, PNOC, SCARA3, SCARA5, ZNF395 0 0 1 0 0 0 0 0 1
CEP55, FFAR4, FRA10AC1, LGI1, MYOF, PDE6C, RBP4 1 0 0 0 0 0 0 0 1
CLCN2 0 0 1 0 0 0 0 0 1
CLCNKB, LOC106501713 1 0 0 0 0 0 0 0 1
CLN3 0 0 1 0 0 0 0 0 1
CRH, LOC130000523 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 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 0 0 0 1
DEPDC5, LINC02558, LOC125446219, LOC126863124, LOC129391278, LOC130067263, LOC130067264, LOC130067265, LOC130067266, NOA3, YWHAH 0 0 0 0 0 0 1 0 1
DEPDC5, LOC125446219 0 0 1 0 0 0 0 0 1
DEPDC5, LOC125446219, LOC126863124, LOC130067262 1 0 0 0 0 0 0 0 1
DEPDC5, LOC130067262 1 0 0 0 0 0 0 0 1
DEPDC5, RFPL2 0 1 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 1
DLG5, KCNMA1 0 0 1 0 0 0 0 0 1
GRIN1 1 0 0 0 0 0 0 0 1
GRIN2A, LOC130058418 0 1 0 0 0 0 0 0 1
GRIN2B 0 0 1 0 0 0 0 0 1
IER3IP1 1 0 0 0 0 0 0 0 1
ITSN2 0 0 1 0 0 0 0 0 1
KAT6B 1 0 0 0 0 0 0 0 1
KCNA1 0 1 0 0 0 0 0 0 1
KCNH8 0 1 0 0 0 0 0 0 1
KCNT1, SOHLH1 0 0 1 0 0 0 0 0 1
KCTD7, LOC129998533, LOC129998534, LOC129998535 0 0 1 0 0 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 1
LOC102724428 1 0 0 0 0 0 0 0 1
LOC126805704, SNIP1 1 0 0 0 0 0 0 0 1
LOC126861509, LOC130007700, LOC130007701, PRICKLE1 0 0 1 0 0 0 0 0 1
LOC126862279, RBFOX1 1 0 0 0 0 0 0 0 1
LOC129390441, LOC130007703, LOC130007704, LOC130007705, LOC130007706, LOC130007707, PRICKLE1 0 1 0 0 0 0 0 0 1
LOC129934328, STARD7 0 0 1 0 0 0 0 0 1
LOC129937857, PDCD10, SERPINI1 0 0 0 0 1 0 0 0 1
LOC129992690, SCARB2 0 0 1 0 0 0 0 0 1
LOC129992692, LOC129992693, SCARB2 0 0 1 0 0 0 0 0 1
MAF, WWOX 1 0 0 0 0 0 0 0 1
MPG, NPRL3 1 0 0 0 0 0 0 0 1
MT-TW 0 1 0 0 0 0 0 0 1
NHLRC1, TPMT 1 0 0 0 0 0 0 0 1
NPR2 0 1 0 0 0 0 0 0 1
OPLAH 0 0 1 0 0 0 0 0 1
PCDH19 1 0 0 0 0 0 0 0 1
PLCB1 1 0 0 0 0 0 0 0 1
PRMT7, SLC7A6OS 1 0 0 0 0 0 0 0 1
RBFOX3 1 0 0 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 1 0 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 0 0 1
SCN1B 1 0 0 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 1
SLC6A1 1 0 0 0 0 0 0 0 1
SLC7A6OS 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 140
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects pathogenic, low penetrance not provided total
Labcorp Genetics (formerly Invitae), Labcorp 681 182 7502 7363 783 0 0 0 16511
Illumina Laboratory Services, Illumina 4 0 666 85 281 0 0 0 1036
Genome-Nilou Lab 0 0 64 172 128 0 0 0 364
Fulgent Genetics, Fulgent Genetics 10 5 189 82 8 0 0 0 294
Institute of Human Genetics, University of Leipzig Medical Center 20 112 44 4 0 0 0 0 180
GeneReviews 5 0 0 0 0 0 0 140 145
OMIM 138 0 1 0 0 0 0 0 139
Revvity Omics, Revvity 12 9 94 0 0 0 0 0 115
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 111
Baylor Genetics 9 4 88 0 0 0 0 0 101
New York Genome Center 0 6 91 0 0 0 0 0 97
Neuberg Centre For Genomic Medicine, NCGM 4 9 47 0 0 0 0 0 60
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 50 6 0 0 0 0 59
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 40 0 1 0 0 0 45
Mendelics 9 11 7 10 4 0 0 0 41
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 3 7 28 1 0 0 0 0 39
Génétique des Maladies du Développement, Hospices Civils de Lyon 22 8 7 0 0 0 0 0 37
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 1 15 1 0 0 0 0 31
Juno Genomics, Hangzhou Juno Genomics, Inc 5 3 11 0 0 0 0 0 19
3billion 5 3 6 3 0 0 0 0 17
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 16 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 10 4 0 0 0 0 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 5 7 0 0 0 14
Centogene AG - the Rare Disease Company 0 3 10 0 0 0 0 0 13
MGZ Medical Genetics Center 0 6 5 1 0 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 7 4 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 10 0 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 3 3 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 7 3 0 0 0 0 0 10
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 6 0 0 0 0 0 0 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 4 4 0 0 0 0 0 9
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 4 4 0 0 0 0 0 8
Undiagnosed Diseases Network, NIH 3 3 0 0 0 0 1 0 7
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 7 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 7 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 0 0 0 0 0 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 5 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 5 0 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 3 0 3 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 0 3 0 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 0 6 6
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 6 0 0 0 0 6
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 3 2 0 0 0 0 6
Athena Diagnostics 0 0 0 0 5 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 1 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 2 1 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 2 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 0 0 0 0 0 0 5
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 3 1 0 0 0 0 0 5
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 4 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 0 0 5
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 1 2 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 1 0 0 0 0 0 4
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 3 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 1 0 0 0 0 0 4
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 2 0 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 2 0 1 0 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 3 0 0 0 0 0 4
Human Genetics Bochum, Ruhr University Bochum 0 1 3 0 0 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 2 0 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 2 0 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 3 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 1 0 0 0 0 0 3
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 2 0 0 0 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 1 0 0 0 0 0 3
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 3 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 3
Center of Excellence for Medical Genomics, Chulalongkorn University 2 1 0 0 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 1 0 0 0 0 0 3
Wen Jiang Lab, Comprehensive Epilepsy Center, Xijing Hospital 0 3 0 0 0 0 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 0 2 0 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 2 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 2 0 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 0 1 1 0 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 0 2 0 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 1 0 0 0 0 0 2
Breda Genetics srl 0 0 2 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 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 0 0 2
Children’s Center Hospital, Tehran University of Medical Sciences 0 0 0 0 0 2 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 2
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 0 1 1 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 0 0 2
DASA 1 1 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 2
Solve-RD Consortium 0 2 0 0 0 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 2 0 0 0 0 0 0 2
Centre de Recherche et de Formation en Génétique Médicale et en Neurosciences, Université des Sciences, des Techniques et des Technologies de Bamako 0 2 0 0 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 2 0 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 0 0 0 1
Institute of Experimental Medicine, Department of Genetics, Istanbul University 1 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 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 0 0 1
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 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 1
TIDEX, University of British Columbia 0 1 0 0 0 0 0 0 1
Institute of Medical Genetics, University of Zurich 0 1 0 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 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 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 1 0 0 0 0 0 0 1
Center for Precision Medicine, Vanderbilt University Medical Center 0 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 0 0 1
Biochemistry Laboratory of CDMU, Chengde Medical University 1 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 1
Institute for Human Genetics, University Hospital Essen 1 0 0 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 1 0 0 0 0 0 1
The Walter and Eliza Hall Institute of Medical Research 1 0 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 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 1
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 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 1
Suma Genomics 1 0 0 0 0 0 0 0 1
Department of Neurology, Hunan Children's Hospital 1 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 1
Department of Neurodegenerative Diseases, AG Gasser, Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 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 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 1 0 0 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 0 1
Rare Genetic Disease Lab, Dept of Zoology, Government Postgraduate College Dargai Malakand, Higher Education Govt. of Khyber Pakhtunkhwa 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 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 0 1 0 0 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 1 1

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