ClinVar Miner

Variants studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (70):
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
924 437 8866 7687 1107 2 1 5 170 18559

Gene and significance breakdown #

Total genes and gene combinations: 156
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
RELN 40 15 1012 1040 152 0 0 0 7 2204
DEPDC5 239 81 869 633 62 0 0 0 66 1881
KCNT1 34 17 737 990 120 0 0 0 5 1843
GRIN2A 132 134 646 714 169 0 0 0 10 1692
KCNMA1 12 10 488 510 38 0 0 0 4 1018
CHRNA4 3 2 313 356 48 0 0 0 4 701
CNTN2 20 9 305 322 29 0 0 0 0 675
HBA-LCR, NPRL3 75 32 317 220 29 0 0 0 2 663
CHRNA2 2 1 335 260 65 0 0 0 3 639
RELN, SLC26A5 7 1 224 235 25 0 0 0 1 473
LMNB2 1 0 212 221 39 0 0 0 0 469
CHRNB2 4 3 242 201 18 0 0 0 3 461
PRICKLE1 5 0 251 129 15 0 0 0 2 394
SCARB2 26 9 183 165 12 0 0 0 17 388
LGI1 36 13 194 137 10 0 0 0 6 386
KCNC1 4 10 189 171 14 0 0 0 0 384
EFHC1 2 0 237 107 32 0 1 5 1 360
PRDM8 1 0 187 123 13 0 0 0 0 324
KCTD7 23 22 173 97 21 2 0 0 0 316
NHLRC1 27 10 184 88 16 0 0 0 5 316
SERPINI1 6 0 185 105 23 0 0 0 0 313
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 6 82 59 3 0 0 0 2 160
PRICKLE2 1 0 116 12 25 0 0 0 0 153
PRIMA1 2 0 63 64 6 0 0 0 0 135
NPRL3 29 6 74 19 1 0 0 0 0 128
CSTB 9 4 51 32 4 0 0 0 11 98
CACNB4 0 0 41 45 12 0 0 0 0 97
LOC126860130, RELN, SLC26A5 2 1 37 50 7 0 0 0 1 95
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
CNTN2, LOC126805985 2 0 25 26 4 0 0 0 0 57
GAL 1 0 35 13 5 0 0 0 0 54
LOC126860131, RELN 0 0 17 33 5 0 0 0 0 54
SCN3A 7 1 34 4 9 0 0 0 1 54
LOC126807094, PRDM8 0 0 26 18 1 0 0 0 0 45
CPA6 3 0 37 1 2 0 0 0 0 42
CSTB, LOC130066788 2 3 20 15 2 0 0 0 2 39
ARFGEF1-DT, CPA6 1 0 27 5 1 0 0 0 0 33
NPRL2 6 9 19 0 0 0 0 0 1 32
LOC129992745, PRDM8 0 0 16 9 1 0 0 0 0 26
LMNB2, LOC130063066 0 0 14 9 2 0 0 0 0 25
CLN8 1 4 14 4 2 0 0 0 1 24
CHRNB2, LOC129931511 0 0 13 6 0 0 0 0 0 19
LOC129992744, PRDM8 0 0 9 7 2 0 0 0 0 18
SEMA6B 3 4 5 2 5 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
YEATS2 1 0 3 1 6 0 0 0 0 11
LMNB2, MIR7108 0 0 1 8 1 0 0 0 0 10
GABRA1 0 2 6 0 0 0 0 0 0 8
SPTAN1 7 0 1 0 0 0 0 0 0 8
MICAL1 1 2 2 2 0 0 0 0 0 7
CACNB4, LOC129934925 0 0 1 4 1 0 0 0 0 6
CHRNA4, KCNQ2 0 0 6 0 0 0 0 0 0 6
CNTNAP2 6 0 0 0 0 0 0 0 0 6
GABRG2 3 3 0 0 0 0 0 0 0 6
LOC122965327, PRICKLE2 0 0 4 0 1 0 0 0 0 5
SAMD12 3 0 2 0 0 0 0 0 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 0 0 5
STARD7 2 0 3 0 0 0 0 0 0 5
ADRA2B 0 0 4 0 0 0 0 0 1 4
CHD2 4 0 0 0 0 0 0 0 0 4
KCNQ3 4 0 0 0 0 0 0 0 0 4
MARCHF6 2 0 2 0 0 0 0 0 0 4
NPR2, SPAG8 0 3 1 0 0 0 0 0 0 4
PDCD10, SERPINI1 0 0 2 1 1 0 0 0 0 4
ASAH1 3 0 0 0 0 0 0 0 0 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
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
GOSR2 1 0 1 0 0 0 0 0 0 2
GOSR2, WNT3, WNT9B 1 0 1 0 0 0 0 0 0 2
KCNQ2 0 0 0 0 0 0 0 0 2 2
SCN2A 2 0 0 0 0 0 0 0 0 2
TBC1D24 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
ABAT, CARHSP1, GRIN2A, HAPSTR1, PMM2, TMEM186, 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, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 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
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 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
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
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
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
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
CLCN2 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, PRR14L 0 1 0 0 0 0 0 0 0 1
DEPDC5, RFPL2 0 1 0 0 0 0 0 0 0 1
DLG5, KCNMA1 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
GRIN2B 0 0 1 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
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 0 1
LOC102724428 1 0 0 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
LOC129934328, STARD7 0 0 1 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
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
PLCB1 1 0 0 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
SCN1B 1 0 0 0 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 0 1
SLC6A1 1 0 0 0 0 0 0 0 0 1
SLC7A6OS 0 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 133
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 648 173 7659 7445 812 0 0 0 0 16737
Illumina Laboratory Services, Illumina 4 0 763 154 297 0 0 0 0 1217
Genome-Nilou Lab 0 0 64 172 128 0 0 0 0 364
Fulgent Genetics, Fulgent Genetics 10 5 200 84 8 0 0 0 0 307
Institute of Human Genetics, University of Leipzig Medical Center 18 110 40 4 0 0 0 0 0 172
OMIM 138 0 2 0 0 0 0 5 0 145
GeneReviews 5 0 0 0 0 0 0 0 140 145
Revvity Omics, Revvity 12 9 94 0 0 0 0 0 0 115
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 0 111
Baylor Genetics 10 4 86 0 0 0 0 0 0 100
New York Genome Center 0 5 93 0 0 0 0 0 0 98
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 1 51 6 0 0 0 0 0 60
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 40 0 1 0 0 0 0 45
Mendelics 9 13 8 10 4 0 0 0 0 44
Neuberg Centre For Genomic Medicine, NCGM 4 6 29 0 0 0 0 0 0 39
Génétique des Maladies du Développement, Hospices Civils de Lyon 22 8 7 0 0 0 0 0 0 37
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 7 24 1 0 0 0 0 0 34
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 1 7 1 0 0 0 0 0 19
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 0 16 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 2 0 0 5 7 0 0 0 0 14
3billion 5 4 5 0 0 0 0 0 0 14
MGZ Medical Genetics Center 0 6 6 1 0 0 0 0 0 13
Centogene AG - the Rare Disease Company 0 3 10 0 0 0 0 0 0 13
Athena Diagnostics Inc 0 0 0 0 12 0 0 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 7 4 0 0 0 0 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 8 4 0 0 0 0 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 10 0 0 0 0 0 0 12
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 4 3 3 0 0 0 0 10
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 7 3 0 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 0 9
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 9 9
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 3 4 0 0 0 0 0 0 8
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 7 0 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 0 7 7
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 5 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
Undiagnosed Diseases Network, NIH 3 3 0 0 0 0 0 0 0 6
Genetics and Molecular Pathology, SA Pathology 3 0 3 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 1 3 2 0 0 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 1 3 0 0 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 4 0 1 0 0 0 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 3 1 0 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 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 3 0 0 0 0 0 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 4 0 0 0 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 3 0 0 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 1 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 1 0 0 0 0 4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 3 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
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 3 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 1 1 0 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 1 0 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 2 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
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 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 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 2 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
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 2 0 0 0 0 0 0 2
Wangler Lab, Baylor College of Medicine 0 1 1 0 0 0 0 0 0 2
HSP Biomedical Diagnostics Department, Hospital San Pedro 0 1 1 0 0 0 0 0 0 2
IRCCS Fondazione Stella Maris, University of Pisa 0 2 0 0 0 0 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 1 0 0 0 0 0 0 2
Breda Genetics srl 0 0 2 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
Lifecell International Pvt. Ltd 1 1 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 1 0 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 0 1 1 0 0 0 0 0 0 2
Bioinformatics Unit, Institut Pasteur de Montevideo 0 2 0 0 0 0 0 0 0 2
DASA 1 1 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 0 0 0 0 0 0 0 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 for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 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
Division of Medical Genetics; Sainte-Justine Hospital 1 0 0 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 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 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
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 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
Genomic Medicine Lab, University of California San Francisco 0 1 0 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 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
Institute for Human Genetics, University Hospital Essen 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
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 1 0 0 0 0 0 0 1
The Walter and Eliza Hall Institute of Medical Research 1 0 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
Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital 1 0 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
Suma Genomics 1 0 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
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 1 0 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
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 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 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 0 0 0 1
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 0 1 1

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