ClinVar Miner

Variants studied for childhood-onset epilepsy syndrome

Included ClinVar conditions (115):
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
1109 648 7414 3163 1079 2 1 23 44 12938

Gene and significance breakdown #

Total genes and gene combinations: 144
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
RELN 16 6 574 201 50 0 0 0 1 839
GRIN2A 71 30 421 178 131 0 0 0 1 796
DEPDC5 146 35 420 166 32 0 0 0 0 778
KCNT1 20 4 339 285 58 0 0 0 0 698
CHD2 81 36 258 169 43 0 0 0 2 576
CLN3 49 91 200 119 12 0 0 0 0 430
KCNMA1 6 2 252 130 25 0 0 0 0 390
CHRNA4 6 1 199 127 34 0 0 0 1 359
CHRNA2 3 1 205 72 56 0 0 0 0 323
EFHC1 3 0 226 79 29 0 1 5 1 323
MFSD8 43 19 179 74 20 0 0 0 0 319
CLN6 37 30 168 77 20 0 0 0 0 303
PRICKLE2 3 0 219 56 38 0 0 0 0 303
PPT1 41 90 127 42 17 0 0 0 1 294
TPP1 35 51 145 36 27 0 0 0 25 278
HBA-LCR, NPRL3 38 14 150 58 16 0 0 0 0 275
SLC6A1 28 23 116 65 29 0 0 0 1 258
PRICKLE1 6 4 186 51 13 0 0 0 0 256
GABRG2 32 14 138 65 14 0 0 0 0 250
CTSD 7 2 153 75 19 0 0 0 0 239
GABRA1 5 9 158 51 20 0 0 4 0 237
CLN8 20 46 115 65 6 0 0 0 1 222
KCTD7 13 8 147 39 22 2 0 0 0 218
DNAJC5 3 0 119 31 61 0 0 0 0 211
LMNB2 1 0 133 68 6 0 0 0 0 206
LOC101927870, RELN 5 1 140 52 12 0 0 0 0 205
DNM1 8 8 79 70 26 0 0 0 0 191
PRDM8 1 0 133 41 14 0 0 0 0 189
CLN5, FBXL3 36 44 97 28 14 0 0 0 0 188
CHRNB2 7 1 108 54 14 0 0 0 0 182
GABRB3 19 17 88 48 6 0 0 3 1 177
NHLRC1 18 2 106 41 15 0 0 0 0 176
SCARB2 27 3 109 39 6 0 0 0 0 176
LGI1 30 5 96 34 4 0 0 0 0 164
KCNC1 2 5 97 47 8 0 0 0 0 158
CERS1, GDF1 6 2 89 41 6 0 0 0 0 143
GOSR2, LRRC37A2 6 3 99 29 11 0 0 0 0 143
SERPINI1 5 0 85 23 17 0 0 0 0 125
CACNB4 1 0 45 49 13 0 0 1 0 105
EPM2A 14 2 64 21 5 0 0 0 0 104
CLN5 10 9 62 22 9 0 0 0 1 101
CSTB 17 6 52 18 6 0 0 0 0 90
GRN 18 1 40 19 12 0 0 0 0 89
CPA6 3 0 70 10 2 0 0 0 0 81
SRPX2 2 1 50 21 7 0 0 0 0 77
EPM2A, FBXO30-DT 5 2 50 17 3 0 0 0 0 75
TWNK 1 0 38 3 29 0 0 0 0 71
ARFGEF1-DT, CPA6 2 0 47 19 7 0 0 0 0 65
POLG 13 7 35 0 0 0 0 0 3 57
NPRL3 17 1 29 5 0 0 0 0 0 52
CACNA1H 0 0 37 0 7 0 0 4 2 50
GAL 1 0 34 7 3 0 0 0 0 45
CTSF 10 1 3 4 11 0 0 0 0 29
CHRNA4, LOC100130587 0 0 12 7 3 0 0 0 0 22
CIZ1, DNM1 1 1 7 5 2 0 0 0 0 16
SCN3A 5 1 9 0 0 0 0 0 0 14
GABRA6 0 0 4 4 5 0 0 0 0 13
SZT2 11 0 0 0 0 0 0 0 0 11
NPRL2 4 3 3 0 0 0 0 0 0 9
SPTAN1 7 0 1 0 0 0 0 0 0 8
CLCN2 0 0 5 0 1 0 0 2 0 7
CHRNA4, KCNQ2 0 0 6 0 0 0 0 0 0 6
CNTNAP2 6 0 0 0 0 0 0 0 0 6
TBC1D24 6 0 0 0 0 0 0 0 0 6
CILK1 0 0 1 0 0 0 0 4 0 5
KCNQ3 4 0 0 0 0 0 0 0 1 5
PDCD10, SERPINI1 0 0 2 1 2 0 0 0 0 5
SCN1A, SCN9A 5 0 0 0 0 0 0 0 0 5
MT-TK 4 0 0 0 0 0 0 0 0 4
RBFOX1 4 0 0 0 0 0 0 0 0 4
ASAH1 3 0 0 0 0 0 0 0 0 3
CRH 3 0 0 0 0 0 0 0 0 3
FANCI, POLG 0 0 2 1 0 0 0 0 0 3
KCNQ2 2 0 1 0 0 0 0 0 0 3
LMNB2, MIR7108 0 0 0 3 0 0 0 0 0 3
MT-TL1 3 0 0 0 0 0 0 0 0 3
NPR2, SPAG8 0 2 1 0 0 0 0 0 0 3
SEMA6B 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, GATD3A, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 0 0 0 0 2
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 2 0 0 0 0 0 0 2
CSTB, LOC109029533 2 0 0 0 0 0 0 0 0 2
DNM1, LOC113839516 0 0 1 1 0 0 0 0 0 2
GOSR2 1 0 1 0 0 0 0 0 0 2
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 1 2
MICAL1 0 0 2 0 0 0 0 0 0 2
SCN1B 1 0 1 0 0 0 0 0 0 2
SCN2A 2 0 0 0 0 0 0 0 0 2
WWOX 2 0 0 0 0 0 0 0 0 2
ABAT, C16orf72, CARHSP1, GRIN2A, PMM2, TMEM186, USP7 0 0 1 0 0 0 0 0 0 1
ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CAMSAP1, CARD9, CCDC183, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FAM166A, 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
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 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
ABHD18, HSPA4L, INTU, LARP1B, MFSD8, PLK4, SLC25A31 1 0 0 0 0 0 0 0 0 1
ABHD18, LARP1B, MFSD8, PLK4 0 0 1 0 0 0 0 0 0 1
ABHD18, MFSD8 0 0 0 0 1 0 0 0 0 1
ACTN3, ACY3, AHNAK, AIP, ALDH3B1, ALDH3B2, ANKRD13D, AP5B1, ARL2, ASRGL1, ATG2A, ATL3, B3GAT3, B4GAT1, BAD, BANF1, BATF2, BBS1, BEST1, BRMS1, BSCL2, C11orf24, C11orf68, C11orf80, C11orf86, CABP2, CABP4, CAPN1, CARNS1, CATSPER1, CATSPERZ, CBLIF, CCDC85B, CCDC86, CCDC87, CCDC88B, CCS, CD248, CD5, CD6, CDC42BPG, CDC42EP2, CDCA5, CDK2AP2, CFL1, CHKA, CHRM1, CLCF1, CNIH2, CORO1B, COX8A, CPSF7, CPT1A, CSKMT, CST6, CTSF, CTSW, CYB561A3, DAGLA, DDB1, DNAJC4, DPF2, DPP3, DRAP1, EEF1G, EFEMP2, EHBP1L1, EHD1, EIF1AD, EML3, ESRRA, FADS1, FADS2, FADS3, FAM89B, FAU, FEN1, FERMT3, FIBP, FKBP2, FLRT1, FOSL1, FRMD8, FTH1, GAL, GAL3ST3, GANAB, GNG3, GPHA2, GPR137, GPR152, GRK2, GSTP1, HNRNPUL2, IGHMBP2, INCENP, INTS5, KAT5, KCNK4, KCNK7, KDM2A, KLC2, KMT5B, LBHD1, LGALS12, LRFN4, LRP5, LRRC10B, LRRN4CL, LTBP3, MACROD1, MAJIN, MALAT1, MAP3K11, MAP4K2, MARK2, MEN1, MIR192, MIR194-2, MRPL11, MRPL21, MRPL49, MS4A1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A18, MS4A2, MS4A3, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MS4A8, MTA2, MUS81, MYRF, NAA40, NAALADL1, NDUFS8, NDUFV1, NDUFV1-DT, NEAT1, NPAS4, NRXN2, NUDT22, NUDT8, NXF1, OOSP2, OTUB1, OVOL1, PACS1, PC, PCNX3, PELI3, PGA3, PGA4, PGA5, PITPNM1, PLAAT2, PLAAT3, PLAAT4, PLAAT5, PLCB3, POLA2, POLD4, POLR2G, PPP1CA, PPP1R14B, PPP1R32, PPP2R5B, PPP6R3, PRDX5, PRPF19, PTGDR2, PTPRCAP, PYGM, RAB1B, RAB3IL1, RAD9A, RASGRP2, RBM14, RBM14-RBM4, RBM4, RBM4B, RCE1, RCOR2, RELA, RHOD, RIN1, RNASEH2C, ROM1, RPS6KA4, RPS6KB2, RTN3, SAC3D1, SART1, SCGB1A1, SCGB1D1, SCGB1D2, SCGB1D4, SCGB2A1, SCGB2A2, SCYL1, SDHAF2, SF1, SF3B2, SIPA1, SLC15A3, SLC22A10, SLC22A11, SLC22A12, SLC22A24, SLC22A25, SLC22A6, SLC22A8, SLC22A9, SLC25A45, SLC29A2, SLC3A2, SNHG1, SNORD22, SNORD25, SNORD26, SNORD27, SNORD28, SNORD29, SNORD30, SNORD31, SNX15, SNX32, SPDYC, SPINDOC, SPTBN2, SSH3, STIP1, STX5, SYT12, SYT7, SYVN1, TAF6L, TBC1D10C, TBX10, TCIRG1, TCN1, TESMIN, TIGD3, TKFC, TM7SF2, TMEM109, TMEM132A, TMEM134, TMEM138, TMEM151A, TMEM179B, TMEM216, TMEM223, TMEM258, TRMT112, TRPT1, TSGA10IP, TTC9C, TUT1, UBXN1, UNC93B1, UQCC3, VEGFB, VPS37C, VPS51, VWCE, WDR74, YIF1A, ZBTB3, ZDHHC24, ZFPL1, ZFTA, ZNHIT2, ZNRD2, ZP1 0 0 1 0 0 0 0 0 0 1
AK1, ANGPTL2, BBLN, CDK9, CFAP157, CIZ1, DNM1, DPM2, ENG, FAM102A, 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
AP2A2, ASCL2, BRSK2, C11orf21, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM10, IGF2, INS, INS-IGF2, IRF7, KCNQ1, KCNQ1DN, KCNQ1OT1, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LMNTD2, LRRC56, LSP1, MIR210, MIR210HG, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PHRF1, PIDD1, PNPLA2, POLR2L, RASSF7, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4 0 0 1 0 0 0 0 0 0 1
APBB1, ARFIP2, C11orf42, CAVIN3, CCKBR, CNGA4, DNHD1, FHIP1B, HPX, ILK, OR52B2, OR52E4, OR52E6, OR52E8, OR52L1, OR52N1, OR52N2, OR52N4, OR52N5, OR52W1, OR56A1, OR56A3, OR56A4, OR56A5, OR56B1, OR56B4, RRP8, SMPD1, TAF10, TIMM10B, TPP1, TRIM22, TRIM3 0 0 1 0 0 0 0 0 0 1
APOBR, ATP2A1, ATXN2L, CD19, CLN3, EIF3C, IL27, NUPR1, RABEP2, SGF29, SH2B1, SULT1A1, SULT1A2, TUFM 1 0 0 0 0 0 0 0 0 1
APOBR, CLN3, IL27, NUPR1, SGF29, SULT1A2 1 0 0 0 0 0 0 0 0 1
ASB16, ATXN7L3, G6PC3, GRN, HDAC5, HROB, LSM12, RUNDC3A, SLC25A39, SLC4A1, TMUB2, UBTF 0 0 1 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3 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
CACNA1G 0 0 0 0 0 0 0 0 1 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
CLCNKB, LOC106501713 1 0 0 0 0 0 0 0 0 1
CLN5, EDNRB, FBXL3, MYCBP2, SCEL, SLAIN1 1 0 0 0 0 0 0 0 0 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, RFPL2 0 1 0 0 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 0 0 0 1
GABRA1, GABRA6, GABRB2, GABRG2 1 0 0 0 0 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 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
GRIN2B 0 0 1 0 0 0 0 0 0 1
HSPA4L, INTU, MFSD8, PLK4, SLC25A31 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
KCNA1 0 1 0 0 0 0 0 0 0 1
LOC101927358, MIR6130, RORB 0 1 0 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
MT-ND5 1 0 0 0 0 0 0 0 0 1
MT-TF 1 0 0 0 0 0 0 0 0 1
NEXMIF 1 0 0 0 0 0 0 0 0 1
NPR2 0 1 0 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
RBFOX3 1 0 0 0 0 0 0 0 0 1
SCN1A 1 0 0 0 0 0 0 0 0 1
SIK1B 1 0 0 0 0 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 0 0 0 1
SLC7A6OS 1 0 0 0 0 0 0 0 0 1
SMPD1 1 0 0 0 0 0 0 0 0 1
SNIP1 1 0 0 0 0 0 0 0 0 1
TGFBR2 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: 110
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 606 174 5694 2915 638 0 0 0 0 10026
Illumina Clinical Services Laboratory,Illumina 7 0 1354 218 467 0 0 0 0 2045
OMIM 252 0 8 0 0 0 0 23 0 283
Counsyl 13 164 62 6 1 0 0 0 0 246
Natera, Inc. 14 1 160 11 39 0 0 0 0 225
GeneReviews 155 0 20 0 1 0 0 0 0 176
Fulgent Genetics,Fulgent Genetics 19 3 153 1 0 0 0 0 0 176
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 2 149 0 0 0 0 0 0 0 151
Baylor Genetics 31 9 106 0 0 0 0 0 0 146
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 0 111
Mendelics 16 29 19 13 7 0 0 0 0 83
Institute of Human Genetics, University of Leipzig Medical Center 5 19 37 6 0 0 0 0 0 67
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 6 47 1 1 0 0 0 0 58
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 3 3 45 0 0 0 0 0 0 51
Integrated Genetics/Laboratory Corporation of America 29 16 0 0 0 0 0 0 0 45
Génétique des Maladies du Développement, Hospices Civils de Lyon 18 15 11 0 0 0 0 0 0 44
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 1 0 11 19 0 0 0 0 36
Genomic Research Center, Shahid Beheshti University of Medical Sciences 9 3 19 0 0 0 0 0 0 31
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 1 0 8 16 0 0 0 0 26
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 23 23
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 0 7 11 0 0 0 0 21
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 20 20
New York Genome Center 2 2 16 0 0 0 0 0 0 20
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 10 1 8 0 0 0 0 0 0 19
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 3 9 6 0 0 0 0 0 0 18
Institute of Human Genetics, Klinikum rechts der Isar 10 7 0 0 0 0 0 0 0 17
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 13 4 0 0 0 0 0 0 17
Genetic Services Laboratory, University of Chicago 12 3 1 0 0 0 0 0 0 16
Athena Diagnostics Inc 0 0 0 0 15 0 0 0 0 15
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 8 0 0 0 0 15
Mayo Clinic Laboratories, Mayo Clinic 2 0 12 0 0 0 0 0 0 14
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 3 3 7 0 0 0 0 0 0 13
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 6 6 0 0 0 0 0 0 0 12
Broad Institute Rare Disease Group, Broad Institute 3 3 3 0 2 0 0 0 0 11
Myriad Women's Health, Inc. 7 4 0 0 0 0 0 0 0 11
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 9 0 0 0 1 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 2 1 0 0 0 0 0 0 9
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 6 2 0 0 0 0 0 0 0 8
Center of Genomic medicine, Geneva,University Hospital of Geneva 4 1 3 0 0 0 0 0 0 8
Undiagnosed Diseases Network,NIH 4 3 1 0 0 0 0 0 0 8
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 7 0 0 0 0 0 0 7
Blueprint Genetics 3 3 0 0 0 0 0 0 0 6
SIB Swiss Institute of Bioinformatics 0 0 2 2 2 0 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 5 1 0 0 0 0 0 0 0 6
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 5 0 0 0 0 0 0 0 0 5
UCLA Clinical Genomics Center, UCLA 0 5 0 0 0 0 0 0 0 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 2 1 2 0 0 0 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 4 0 0 0 0 0 0 0 5
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 4 0 0 0 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 1 2 1 0 0 0 0 0 0 4
Cavalleri Lab, Royal College of Surgeons in Ireland 3 1 0 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 2 0 0 0 0 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 2 0 1 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 2 0 0 0 0 0 0 0 3
Kasturba Medical College, Manipal University 1 2 0 0 0 0 0 0 0 3
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 3 0 0 0 0 0 0 3
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 1 0 0 0 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 1 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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 2 0 0 0 0 0 0 0 3
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 3 0 0 0 0 0 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 0 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 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
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 2 0 0 0 0 0 0 2
IRCCS Fondazione Stella Maris,University of Pisa 0 2 0 0 0 0 0 0 0 2
Breda Genetics srl 0 0 2 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
Laboratory of Genetics in Ophthalmology,Institut Imagine 1 1 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 0 2
Pediatrics, MediClubGeorgia 1 1 0 0 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 0 0 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 0 0 0 1
Neurogenetics group,VIB, Antwerp, Belgium 0 1 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
Tim Yu lab,Boston Children's Hospital 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
Ege University Pediatric Genetics,Ege University 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
Department Of Genetics,Lifeline Super Speciality Hospital, Adoor. 1 0 0 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
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 0 0 0 1
Genotek, Genotek Ltd. 0 1 0 0 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 0 1 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 0 1
Child Neurology Division, Pediatrics Department,KAHER's Jawaharlal Nehru Medical College, Belagavi 1 0 0 0 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 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
Reproductive Health Research and Development,BGI Genomics 1 0 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
Human Genetics Department,Tarbiat Modares University 0 1 0 0 0 0 0 0 0 1
Genesis Genoma Lab, Genesis Genoma Lab 0 1 0 0 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 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
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 0 0 0 1

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