ClinVar Miner

Variants studied for electroclinical syndrome

Included ClinVar conditions (113):
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 association risk factor not provided total
1645 849 9005 7824 1565 1 18 181 20446

Gene and significance breakdown #

Total genes and gene combinations: 205
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
GRIN2A 137 137 654 718 169 0 0 10 1707
SCN2A 211 117 715 621 81 0 0 8 1701
CHD2 184 84 626 685 81 0 0 5 1630
JMJD1C 0 0 780 414 60 0 0 0 1253
GRIN2B 46 33 347 517 159 0 0 1 1086
KCNQ3 34 16 584 370 120 0 0 26 1066
SIK1 5 2 417 417 83 0 0 0 909
CDKL5 294 101 218 244 74 0 0 1 892
PLCB1 15 14 428 416 49 0 0 0 885
PNKP 67 16 351 410 36 0 0 0 880
TBC1D24 61 19 451 262 45 0 0 2 803
CNTN2 18 10 306 322 29 0 0 0 675
WWOX 52 13 298 250 45 0 0 0 654
CACNA1H 0 1 364 247 23 0 4 5 641
GABRG2 76 32 250 169 25 0 0 0 526
ARX 32 13 179 265 20 0 0 0 506
GABRB3 43 34 204 200 22 0 3 2 493
GABRA1 27 17 242 174 42 0 4 0 484
DNM1 14 12 160 247 41 0 0 1 469
PIK3AP1 0 0 201 159 32 0 0 0 392
EFHC1 2 0 243 107 33 1 5 1 363
KCND2 5 1 179 149 14 0 0 0 348
SPTAN1 23 36 129 57 126 0 0 1 338
KCNQ2 69 48 24 3 7 0 0 96 227
MAF, WWOX 6 0 81 51 7 0 0 0 144
CDKL5, RS1 9 2 57 46 23 0 0 1 131
ARX, LOC109610631 14 3 44 61 9 0 0 1 126
SLC25A22 7 3 96 4 16 0 0 0 123
CACNB4 1 1 46 46 12 0 1 2 107
DNM1, LOC113839516 2 8 37 45 8 0 0 0 99
SCN8A 8 16 26 3 9 0 0 2 63
CNTN2, LOC126805985 3 0 25 26 4 0 0 0 58
CLCN2 2 8 20 20 3 0 1 0 52
SLC1A2 4 6 27 3 6 0 0 0 45
CHD2, LOC126862230 5 0 13 24 1 0 0 0 43
MVP-DT, PRRT2 16 11 5 5 1 0 0 2 38
CIZ1, DNM1 2 3 14 14 3 0 0 0 35
DNM1, LOC130002698 2 1 10 15 2 0 0 0 30
DNM1, LOC130002699 1 0 11 9 3 0 0 0 24
GABRA6 0 0 3 7 11 0 0 0 21
ST3GAL3 5 1 10 2 3 0 0 0 21
GUF1 1 1 5 0 6 0 0 0 13
SZT2 11 0 1 0 0 0 0 0 12
DEPDC5 11 0 0 0 0 0 0 0 11
YEATS2 1 0 3 1 6 0 0 0 11
RAPGEF2 1 0 3 0 5 0 0 0 9
TNRC6A 1 0 2 0 6 0 0 0 9
LOC120977013, SCN2A 0 0 8 0 0 0 0 0 8
LOC130004439, PIK3AP1 0 0 5 3 0 0 0 0 8
CACNB4, LOC129934925 0 0 3 4 1 0 0 0 6
CNTNAP2 6 0 0 0 0 0 0 0 6
KCNH5 6 0 0 0 0 0 0 0 6
RELN 5 0 0 0 0 0 0 0 5
SAMD12 3 0 2 0 0 0 0 0 5
SCN1A 3 1 1 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
CACNA1A 0 1 3 0 0 0 0 0 4
CDKL5, LOC130067999 4 0 0 0 0 0 0 0 4
DNM1, LOC130002697 0 0 0 4 0 0 0 0 4
GABRB3, LOC126862078 2 0 2 0 0 0 0 0 4
LOC102724058, SCN1A 1 0 1 0 0 0 0 2 4
LOC130065408, PLCB1 0 0 3 0 1 0 0 0 4
MARCHF6 2 0 2 0 0 0 0 0 4
SYNJ1 0 1 2 0 0 0 0 1 4
ARX, PCYT1B, PDK3, POLA1 1 0 2 0 0 0 0 0 3
ASAH1 3 0 0 0 0 0 0 0 3
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 2 0 0 0 0 0 3
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 1 0 2 0 0 0 0 0 3
LOC130004450, PIK3AP1 0 0 1 2 0 0 0 0 3
LOC130065410, PLCB1 0 0 1 1 1 0 0 0 3
MAST4 0 2 1 0 0 0 0 0 3
PRICKLE1 3 0 0 0 0 0 0 0 3
PRICKLE2 1 0 2 0 0 0 0 0 3
RBFOX1 3 0 0 0 0 0 0 0 3
RELN, SLC26A5 3 0 0 0 0 0 0 0 3
SCN1B 1 0 1 0 0 0 0 1 3
SCN2A, SCN3A 2 0 1 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
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 0 0 2 0 0 0 0 0 2
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 1 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
ALDH7A1 0 0 2 0 0 0 0 0 2
ALG13 0 0 1 0 0 0 0 1 2
APOLD1, CDKN1B, DDX47, EMP1, FAM234B, GPRC5A, GPRC5D, GRIN2B, GSG1, HEBP1 1 0 1 0 0 0 0 0 2
ARHGEF9 0 0 0 0 0 0 0 2 2
ATP1A2 0 0 0 2 0 0 0 0 2
CACNA1G 0 0 0 0 0 0 0 2 2
CCNF, TBC1D24 0 0 2 1 1 0 0 0 2
CHRNA4, KCNQ2 0 2 0 0 0 0 0 0 2
CPA6 2 0 0 0 0 0 0 0 2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 1 0 0 0 0 0 2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN9A, TTC21B 1 0 1 0 0 0 0 0 2
GABRA1, GABRA6, GABRB2, GABRG2 1 0 1 0 0 0 0 0 2
GABRA1, GABRG2 1 1 0 0 0 0 0 0 2
GRIN1 1 1 0 0 0 0 0 0 2
KCNA2 0 2 0 0 0 0 0 1 2
KCND2, TSPAN12 0 0 2 0 0 0 0 0 2
KCNQ2, LOC125387319 1 0 0 0 0 0 0 1 2
KCNT1 2 0 0 0 0 0 0 0 2
LOC112486209, LOC132090435, WWOX 1 1 0 0 0 0 0 0 2
LOC114803470, SCN8A 0 0 1 1 0 0 0 0 2
LOC120977013, LOC129935043, SCN2A, SCN3A 0 0 2 0 0 0 0 0 2
PACS2 1 0 1 0 0 0 0 0 2
PCDH19 1 0 1 0 0 0 0 0 2
SCARB2 2 0 0 0 0 0 0 0 2
SLC2A1 2 0 0 0 0 0 0 0 2
SNAP25 1 1 0 0 0 0 0 0 2
STXBP1 1 1 0 0 0 0 0 0 2
TUBA1A 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
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, EME2, FAHD1, GFER, HAGH, HS3ST6, IGFALS, MEIOB, MIR1225, MLST8, MRPS34, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBC1D24, TBL3, TEDC2, TRAF7, TSC2, ZNF598 0 0 1 0 0 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTN3, PGP, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 0 0 1 0 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, DNAJC5, EEF1A2, FNDC11, GID8, GMEB2, HAR1A, HAR1B, HELZ2, KCNQ2, LIME1, LKAAEAR1, MRGBP, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OPRL1, PCMTD2, PPDPF, PRPF6, PTK6, RGS19, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, STMN3, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 0 0 1
ABHD16B, ARFGAP1, ARFRP1, BIRC7, CHRNA4, COL20A1, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, NKAIN4, PPDPF, PRPF6, PTK6, RTEL1, SAMD10, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 1 0 0 0 0 0 0 1
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 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 1
ADM5, AKT1S1, ALDH16A1, AP2A1, BCL2L12, CD37, CPT1C, DKKL1, FCGRT, FLT3LG, FUZ, IL4I1, IRF3, KASH5, MED25, MIR150, NOSIP, NUP62, PIH1D1, PNKP, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RCN3, RPL13A, RPS11, RRAS, SCAF1, SLC17A7, SLC6A16, TBC1D17, TEAD2, TRPM4, TSKS 0 0 1 0 0 0 0 0 1
ADM5, ALDH16A1, AP2A1, BCL2L12, C19orf73, CD37, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CPT1C, DKKL1, FCGRT, FLT3LG, FUZ, HRC, IRF3, KASH5, KCNA7, LHB, LIN7B, MED25, MIR150, NOSIP, NTF4, PIH1D1, PNKP, PPFIA3, PRMT1, PRR12, PRRG2, PTH2, PTOV1, RCN3, RPL13A, RPS11, RRAS, SCAF1, SLC17A7, SLC6A16, SNRNP70, TEAD2, TRPM4, TSKS 0 0 1 0 0 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, NDUFV3, PDE9A, PDXK, PKNOX1, PWP2, RRP1, RRP1B, RSPH1, SIK1, SLC37A1, TRAPPC10, U2AF1, WDR4 0 0 1 0 0 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10, U2AF1 0 0 1 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 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 1
AMDHD2, ATP6V0C, BICDL2, CEMP1, CLDN6, CLDN9, ELOB, FLYWCH1, FLYWCH2, HCFC1R1, IL32, KCTD5, KREMEN2, MMP25, PAQR4, PDPK1, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SRRM2, TBC1D24, THOC6, TNFRSF12A, ZG16B, ZSCAN10 1 0 0 0 0 0 0 0 1
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 1 0 0 0 0 0 0 0 1
APOLD1, ARHGDIB, ART4, ATF7IP, BCL2L14, BORCS5, C12orf60, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, EPS8, ERP27, ETV6, FAM234B, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, H2AJ, H4C16, HEBP1, LRP6, MANSC1, MGP, PDE6H, PLBD1, PTPRO, RERG, SMCO3, WBP11 0 0 1 0 0 0 0 0 1
ARFGAP1, BIRC7, CHRNA4, COL20A1, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, NKAIN4, PPDPF, PTK6, RTEL1, SRMS, STMN3, YTHDF1 1 0 0 0 0 0 0 0 1
ARFGEF1-DT, CPA6 1 0 0 0 0 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 0 0 1
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, CMIP, DYNLRB2, GAN, GCSH, MAF, PKD1L2, PLCG2, WWOX 1 0 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3 1 0 0 0 0 0 0 0 1
ATP10A, GABRA5, GABRB3, GABRG3, OCA2 1 0 0 0 0 0 0 0 1
ATP1A3 1 0 0 0 0 0 0 0 1
ATP6V1A 0 0 1 0 0 0 0 0 1
B3GALT1, CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC122847309, LOC126806396, LOC126806397, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, SCN1A, SCN2A, SCN7A, SCN9A, TTC21B, XIRP2 1 0 0 0 0 0 0 0 1
BEND2, CDKL5, NHS, RAI2, SCML1, SCML2 1 0 0 0 0 0 0 0 1
CAPRIN1 1 0 0 0 0 0 0 0 1
CDKL5, LOC121853052, LOC130067999 1 0 0 0 0 0 0 0 1
CFAP96, UFSP2 1 0 0 0 0 0 0 0 1
CHRNA1 0 0 1 0 0 0 0 0 1
CHRNA2 0 0 1 0 0 0 0 0 1
CHRNA4 0 0 1 0 0 0 0 0 1
CHRNA4, COL20A1, KCNQ2 0 1 0 0 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, SRMS 0 1 0 0 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2 0 1 0 0 0 0 0 0 1
CHRNA7 1 0 0 0 0 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 0 0 1
CSNK1E, LOC126863148, TPTEP2-CSNK1E 1 0 0 0 0 0 0 0 1
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 1 0 0 0 0 0 0 0 1
CSTB 1 0 0 0 0 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 0 0 1
DYNC2I2, GLE1, SPTAN1 0 1 0 0 0 0 0 0 1
EEF1A2, KCNQ2 0 1 0 0 0 0 0 0 1
EGR2, JMJD1C, NRBF2 0 0 1 0 0 0 0 0 1
EPM2A 1 0 0 0 0 0 0 0 1
GABRA1, GABRA6 0 0 1 0 0 0 0 0 1
GABRA1, GABRA6, GABRG2 1 0 0 0 0 0 0 0 1
GABRA5, GABRB3, GABRG3, HERC2, OCA2 0 0 1 0 0 0 0 0 1
GABRB3, LOC126862077, LOC126862078 0 0 1 0 0 0 0 0 1
GAD1 0 0 1 0 0 0 0 0 1
GATM 0 0 1 0 0 0 0 0 1
GNAO1 0 1 0 0 0 0 0 0 1
GRIN2A, LOC130058418 0 1 0 0 0 0 0 0 1
HNRNPU 0 0 0 0 0 0 0 1 1
HSD17B3, SLC35D2-HSD17B3 1 0 0 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
JMJD1C, LOC129390177 0 0 0 0 1 0 0 0 1
KCNQ2, LOC129391211 0 0 0 0 0 0 0 1 1
KCNQ3, LOC114827840 0 0 1 0 0 0 0 0 1
LOC101927358, MIR6130, RORB 0 1 0 0 0 0 0 0 1
LOC102724428 1 0 0 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 0 0 1
LOC125384577, PLCB1, RNU105B 0 0 1 0 0 0 0 0 1
LOC126805704, SNIP1 1 0 0 0 0 0 0 0 1
LOC126862279, RBFOX1 1 0 0 0 0 0 0 0 1
LOC129934328, STARD7 0 0 1 0 0 0 0 0 1
LOC129993307, RAPGEF2 0 0 1 0 0 0 0 0 1
LOC130058245, TBC1D24 0 0 1 0 0 0 0 0 1
LOC132090427, LOC132090428, LOC132090429, LOC132090888, WWOX 1 0 0 0 0 0 0 0 1
LOC132090428, LOC132090429, WWOX 0 0 1 0 0 0 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 0 0 1
MAPK10 0 0 1 0 0 0 0 0 1
MECP2 0 0 1 0 0 0 0 0 1
MED25, PNKP, PTOV1 1 0 0 0 0 0 0 0 1
NAPB 0 0 1 0 0 0 0 0 1
NRXN2 0 0 1 0 0 0 0 0 1
PIDD1 0 0 0 1 0 0 0 0 1
POLG 0 0 1 0 0 0 0 0 1
PRRT2 1 0 0 0 0 0 0 0 1
RBFOX3 1 0 0 0 0 0 0 0 1
REPS2 0 0 1 0 0 0 0 0 1
SCN3A 0 0 1 0 0 0 0 0 1
SLC25A12 0 1 0 0 0 0 0 0 1
SLC35A2 0 0 1 0 0 0 0 0 1
SLC6A1 1 0 0 0 0 0 0 0 1
UGDH 0 1 0 0 0 0 0 0 1
ZEB2 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 174
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1078 329 7058 7239 1041 0 0 0 16745
Illumina Laboratory Services, Illumina 1 0 910 199 363 0 0 0 1439
Fulgent Genetics, Fulgent Genetics 15 9 457 331 27 0 0 0 839
Genome-Nilou Lab 0 4 67 31 221 0 0 0 323
Institute of Human Genetics, University of Leipzig Medical Center 38 131 69 8 1 0 0 0 247
OMIM 132 0 6 0 0 0 18 0 156
Baylor Genetics 15 23 101 0 0 0 0 0 139
GeneReviews 12 0 0 0 0 0 0 126 138
Mendelics 57 34 13 12 15 0 0 0 131
Revvity Omics, Revvity 7 3 104 3 0 0 0 0 117
Bioinformatics Core, Luxembourg Center for Systems Biomedicine 111 0 0 0 0 0 0 0 111
New York Genome Center 4 8 86 2 0 0 0 0 100
RettBASE 75 8 4 0 0 0 0 0 87
Génétique des Maladies du Développement, Hospices Civils de Lyon 38 25 9 4 0 0 0 0 76
Genetic Services Laboratory, University of Chicago 28 9 33 0 0 0 0 0 70
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 5 5 46 12 0 0 0 0 68
Neuberg Centre For Genomic Medicine, NCGM 5 8 53 0 0 0 0 0 66
3billion 7 13 15 12 0 0 0 0 47
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 14 6 18 3 0 0 0 0 41
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 2 30 3 0 0 0 0 39
Neurology Department, Shenzhen Children's Hospital 34 0 0 0 0 0 0 0 34
MGZ Medical Genetics Center 6 11 15 0 0 0 0 0 32
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 25 1 0 0 0 0 29
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 27 0 0 0 0 0 0 29
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 18 3 0 0 0 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 8 14 0 0 0 24
GenomeConnect, ClinGen 0 0 0 0 0 0 0 22 22
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 0 21 21
NeuroMeGen, Hospital Clinico Santiago de Compostela 4 15 1 0 0 0 0 0 20
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 11 8 1 0 0 0 0 0 20
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 3 5 0 0 0 0 0 19
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 9 7 3 0 0 0 0 0 19
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 6 10 0 0 0 17
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 3 3 11 0 0 0 0 0 17
Mayo Clinic Laboratories, Mayo Clinic 1 0 15 0 0 0 0 0 16
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 3 11 0 0 0 0 0 15
Athena Diagnostics 0 0 0 0 14 0 0 0 14
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 12 0 0 0 0 0 0 13
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 5 7 0 0 0 0 0 13
Centogene AG - the Rare Disease Company 2 2 8 0 0 0 0 0 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 6 6 0 0 0 0 0 0 12
Center of Excellence for Medical Genomics, Chulalongkorn University 11 1 0 0 0 0 0 0 12
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 6 3 2 0 0 0 0 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 8 0 0 0 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 3 2 4 0 0 0 10
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 6 2 1 1 0 0 0 0 10
Solve-RD Consortium 0 10 0 0 0 0 0 0 10
MVZ Medizinische Genetik Mainz 0 4 6 0 0 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 4 3 0 0 0 0 0 8
Molecular Genetics Lab, CHRU Brest 2 4 2 0 0 0 0 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 4 1 1 1 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 4 0 0 0 0 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 5 2 0 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 4 2 0 0 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 7 7
Department of Neurology, Children’s Hospital of Chongqing Medical University 2 4 1 0 0 0 0 0 7
Institute of Human Genetics, University of Goettingen 0 3 3 0 0 0 0 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 3 0 0 0 0 0 0 6
Service de Génétique Moléculaire, Hôpital Robert Debré 2 4 0 0 0 0 0 0 6
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 3 0 0 0 0 0 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 3 1 0 0 0 0 0 6
Undiagnosed Diseases Network, NIH 3 2 1 0 0 0 0 0 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 5 0 0 0 0 0 6
Pediatrics, MediClubGeorgia 2 4 0 0 0 0 0 0 6
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 4 0 0 0 0 0 0 5
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 4 0 0 0 0 0 5
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 4 1 0 0 0 0 0 0 5
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 1 0 2 1 1 0 0 0 5
Pediatric Department, Xiangya Hospital, Central South University 5 0 0 0 0 0 0 0 5
DASA 3 2 0 0 0 0 0 0 5
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 3 1 0 0 0 0 0 5
Uskudar University, Department of Molecular Biology and Genetics, Uskudar University 5 0 0 0 0 0 0 0 5
Institute of Human Genetics, Cologne University 0 3 1 0 0 0 0 0 4
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 2 1 1 0 0 0 0 0 4
Duke University Health System Sequencing Clinic, Duke University Health System 1 3 0 0 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 1 0 0 0 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 1 0 0 0 4
Cavalleri Lab, Royal College of Surgeons in Ireland 3 1 0 0 0 0 0 0 4
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 3 0 0 0 0 0 4
Fondazione Telethon, Telethon Institute of Genetics and Medicine 4 0 0 0 0 0 0 0 4
Cell and Molecular Biology Laboratory, University of the Punjab Lahore 0 0 1 2 0 1 0 0 4
Lifecell International Pvt. Ltd 1 3 0 0 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 1 0 0 0 0 0 0 4
Neurogenetics, Research Centre for Medical Genetics 0 3 1 0 0 0 0 0 4
University of British Columbia, BC Children's Hospital 2 2 0 0 0 0 0 0 4
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 0 0 4 4
School Of Forensic, Xinxiang Medical University 0 4 0 0 0 0 0 0 4
Blueprint Genetics 0 3 0 0 0 0 0 0 3
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 2 0 1 0 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 1 0 0 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 2 1 0 0 0 0 0 3
Division of Medical Genetics; Sainte-Justine Hospital 3 0 0 0 0 0 0 0 3
Laboratory of Medical Genetics, University of Torino 1 2 0 0 0 0 0 0 3
Breda Genetics srl 0 1 2 0 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 1 1 0 0 0 0 3
Genomics England Pilot Project, Genomics England 0 3 0 0 0 0 0 0 3
National Health Commission Key Laboratory of Birth Defects Research, Maternal and Child Health Hospital of Hunan 0 2 1 0 0 0 0 0 3
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 2 0 1 0 0 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 2 1 0 0 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 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 2
UniProtKB/Swiss-Prot 0 0 0 0 0 0 0 2 2
Dobyns Lab, Seattle Children's Research Institute 1 1 0 0 0 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 1 1 0 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 0 0 2
Neurogenetics Laboratory - MEYER, AOU Meyer 0 0 2 0 0 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 2 0 0 0 0 0 2
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 2 0 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 2 0 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 0 0 2
Medical Genetic Team, CHRU Montpellier 2 0 0 0 0 0 0 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 1 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 2
Suma Genomics, Suma Genomics 1 0 0 1 0 0 0 0 2
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg 2 0 0 0 0 0 0 0 2
Palindrome, Gene Kavoshgaran Aria 2 0 0 0 0 0 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 1 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 2
Pediatrics, Sichuan Provincial Hospital For Women And Children 2 0 0 0 0 0 0 0 2
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 1 0 0 0 0 0 0 2
Watson Genetic Lab 0 2 0 0 0 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 1 0 1 0 0 0 0 0 2
Department of Medical and Surgical Sciences, Institute of Neurology, University Magna Graecia of Catanzaro 1 1 0 0 0 0 0 0 2
Ambry Genetics 0 1 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 1
ITMI 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 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
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 0 1
Neurogenetics group, VIB, Antwerp, Belgium 0 1 0 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 0 1
Wangler Lab, Baylor College of Medicine 0 0 1 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
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 0 0 1
Wu Jinyu Laboratory, Institute of Genomic Medicine, Wenzhou Medical University 1 0 0 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 0 1
Poduri Lab, Boston Children's Hospital 0 0 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 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
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 0 0 1 1
The Walter and Eliza Hall Institute of Medical Research 1 0 0 0 0 0 0 0 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 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
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 1 0 0 0 0 0 1
Sydney Genome Diagnostics, Children's Hospital Westmead 1 0 0 0 0 0 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 0 0 1
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 0 1 0 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 0 0 1
Eurofins-Biomnis 1 0 0 0 0 0 0 0 1
Diagnostic and Treatment Unit for Congenital Metabolic Diseases, Hopital Clínico Universitario de Santiago de Compostela (CHUS) 0 1 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
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 0 0 1
Regional Center For Medical Genetics Timis, Louis Turcanu Emergency Hospital for Children Timisoara 0 0 1 0 0 0 0 0 1

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