ClinVar Miner

Variants studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (97):
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
950 549 6778 2777 959 2 1 16 36 11560

Gene and significance breakdown #

Total genes and gene combinations: 135
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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
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
PRICKLE1 6 4 186 51 13 0 0 0 0 256
CTSD 7 2 153 75 19 0 0 0 0 239
GABRA1 5 9 158 51 20 0 0 4 0 237
CNTN2 2 2 145 62 19 0 0 0 0 228
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
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
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
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
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
SCN3A 5 1 9 0 0 0 0 0 0 14
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
CILK1 0 0 1 0 0 0 0 4 0 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
ADRA2B 0 0 4 0 0 0 0 0 0 4
CHD2 4 0 0 0 0 0 0 0 0 4
KCNQ3 4 0 0 0 0 0 0 0 0 4
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
GABRG2 3 0 0 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
SAMD12 3 0 0 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
GOSR2 1 0 1 0 0 0 0 0 0 2
KCNQ2 2 0 0 0 0 0 0 0 0 2
MARCHF6 2 0 0 0 0 0 0 0 0 2
MICAL1 0 0 2 0 0 0 0 0 0 2
SCN2A 2 0 0 0 0 0 0 0 0 2
STARD7 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, 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
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
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
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
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
LOC102724058, SCN1A 1 0 0 0 0 0 0 0 0 1
MAF, WWOX 1 0 0 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
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
SCN1B 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
SLC6A1 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
YEATS2 1 0 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign affects association risk factor not provided total
Invitae 482 127 5199 2547 530 0 0 0 0 8884
Illumina Clinical Services Laboratory,Illumina 7 0 1300 205 460 0 0 0 0 1971
Counsyl 13 164 62 6 1 0 0 0 0 246
OMIM 222 0 7 0 0 0 0 16 0 245
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 17 3 131 1 0 0 0 0 0 152
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 2 149 0 0 0 0 0 0 0 151
Baylor Genetics 29 3 84 0 0 0 0 0 0 116
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 0 111
Mendelics 13 24 12 11 7 0 0 0 0 66
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 6 42 0 1 0 0 0 0 52
Integrated Genetics/Laboratory Corporation of America 29 16 0 0 0 0 0 0 0 45
Institute of Human Genetics, University of Leipzig Medical Center 4 11 25 4 0 0 0 0 0 44
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 2 2 39 0 0 0 0 0 0 43
Génétique des Maladies du Développement, Hospices Civils de Lyon 15 7 7 0 0 0 0 0 0 29
Genomic Research Center, Shahid Beheshti University of Medical Sciences 8 2 18 0 0 0 0 0 0 28
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 5 1 0 10 12 0 0 0 0 28
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 0 22 22
Genome Diagnostics Laboratory,University Medical Center Utrecht 1 1 0 8 11 0 0 0 0 21
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 2 1 0 7 11 0 0 0 0 21
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 13 4 0 0 0 0 0 0 17
New York Genome Center 2 1 14 0 0 0 0 0 0 17
Genetic Services Laboratory, University of Chicago 12 2 1 0 0 0 0 0 0 15
Institute of Human Genetics, Klinikum rechts der Isar 10 5 0 0 0 0 0 0 0 15
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 7 8 0 0 0 0 15
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 9 4 0 0 0 0 0 0 15
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 9 1 4 0 0 0 0 0 0 14
Athena Diagnostics Inc 0 0 0 0 13 0 0 0 0 13
GenomeConnect, ClinGen 0 0 0 0 0 0 0 0 13 13
Mayo Clinic Laboratories, Mayo Clinic 1 0 10 0 0 0 0 0 0 11
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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 3 4 0 0 0 0 0 0 8
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 6 1 0 0 0 0 0 0 0 7
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 3 0 0 0 0 0 0 7
Undiagnosed Diseases Network,NIH 4 3 0 0 0 0 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 5 2 0 0 0 0 0 0 0 7
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
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 2 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
SIB Swiss Institute of Bioinformatics 0 0 1 2 2 0 0 0 0 5
Blueprint Genetics 3 1 0 0 0 0 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 3 0 0 0 0 0 0 0 4
Centogene AG - the Rare Disease Company 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
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 0 0 0 0 3
Kasturba Medical College, Manipal University 1 2 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
Genomic Medicine Lab, University of California San Francisco 1 1 1 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
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 2 0 0 0 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 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
NeuroMeGen,Hospital Clinico Santiago de Compostela 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
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 2 0 0 0 0 0 0 2
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 2 0 0 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
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 1 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
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
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 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
Neurogenetics Research Program, University of Adelaide 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
Cavalleri Lab, Royal College of Surgeons in Ireland 1 0 0 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
Breda Genetics srl 0 0 1 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
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
Reproductive Health Research and Development,BGI Genomics 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
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
Excellence Center for Genomics and Precision Medicine,King Chulalongkorn Memorial Hospital 1 0 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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