ClinVar Miner

Variants studied for neonatal epilepsy syndrome

Included ClinVar conditions (57):
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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 not provided total
990 564 5154 5484 959 192 12922

Gene and significance breakdown #

Total genes and gene combinations: 133
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CACNA1A 196 102 992 1112 132 7 2479
KCNT1 33 35 751 995 120 1 1874
KCNQ3 30 16 585 370 120 26 1067
MECP2 220 24 209 339 172 0 940
PLCB1 14 14 428 415 49 0 883
PNKP 67 16 351 410 36 0 880
SLC12A5 29 13 309 406 29 11 786
SLC13A5 34 26 257 283 22 0 605
KCNB1 35 44 207 253 86 0 599
DNM1 13 12 160 247 41 0 468
KCNA2 27 22 193 120 10 2 363
EEF1A2 11 13 96 212 32 2 357
KCNQ2 70 49 25 3 7 93 227
SCN8A 36 72 65 5 10 38 201
NECAP1 3 1 77 64 3 0 147
WWOX 26 15 31 1 30 1 100
DNM1, LOC113839516 2 8 37 45 8 0 99
GRIN2D 6 8 46 7 2 1 67
CACNA1A, LOC130063717 0 0 34 22 0 0 55
EEF1A2, LOC132090595 1 0 25 23 3 0 52
HCN1 11 8 25 5 0 1 46
SLC1A2 4 6 27 3 6 0 45
CACNA1A, LOC126862864 5 4 19 16 1 1 43
TBC1D24 11 8 19 3 1 2 42
AARS1 11 3 17 8 1 2 41
CIZ1, DNM1 2 3 14 14 3 0 35
CACNA1A, LOC126862865 3 0 6 21 3 0 32
DNM1, LOC130002698 2 1 10 15 2 0 30
CACNA1A, LOC126862866 2 0 8 19 0 0 29
NPHP3-ACAD11, UBA5 16 8 7 0 1 0 29
LOC126861440, NECAP1 0 1 12 13 1 0 27
SLC25A12 7 4 11 0 3 1 26
DNM1, LOC130002699 1 0 11 9 3 0 24
FGF12 2 3 11 1 2 0 17
LOC113960611, SLC12A5 0 1 7 9 0 0 17
LOC130068854, MECP2 3 0 8 4 4 0 17
GABRB1 3 5 6 1 2 0 16
MAF, WWOX 1 1 4 1 8 0 14
CACNA1A, LOC108663985 0 0 0 3 3 0 6
KCNH5 6 0 0 0 0 0 6
GLUL 5 0 0 0 0 0 5
DNM1, LOC130002697 0 0 0 4 0 0 4
EEF1A2, KCNQ2 0 1 3 0 0 0 4
LOC114803470, SCN8A 0 0 3 1 0 0 4
LOC130065408, PLCB1 0 0 3 0 1 0 4
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 1 0 2 0 0 0 3
GRIN2D, LOC130064855 0 0 2 1 0 0 3
LOC130065410, PLCB1 0 0 1 1 1 0 3
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, RENBP, TMEM187 2 0 0 0 0 0 2
ARHGAP4, AVPR2, HCFC1, IRAK1, L1CAM, MECP2, NAA10, RENBP, TMEM187 2 0 0 0 0 0 2
ATP1A3 1 1 0 0 0 0 2
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS 1 0 1 0 0 0 2
CACNA1A, IER2, LYL1, NACC1, NFIX, STX10, TRMT1 0 0 2 0 0 0 2
CHRNA4, KCNQ2 0 2 0 0 0 0 2
EEF1A2, PPDPF 0 0 2 0 0 0 2
FLNA, MECP2, OPN1LW, OPN1MW, OPN1MW2, TEX28, TKTL1 2 0 0 0 0 0 2
GRIN2D, LOC130064857 2 1 0 0 0 0 2
IRAK1, MECP2 2 0 0 0 0 0 2
KCNQ2, LOC125387319 1 0 0 0 0 1 2
LOC112486209, LOC132090435, WWOX 1 0 1 0 0 0 2
LOC130065980, SLC12A5 0 0 2 0 0 0 2
RBFOX1 0 2 0 0 0 0 2
SCN2A 2 0 0 0 0 0 2
SRGAP2 0 2 0 0 0 0 2
A2ML1, ACSM4, AICDA, APOBEC1, ATN1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CDCA3, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, ENO2, FAM90A1, FOXJ2, GDF3, GNB3, LPCAT3, LRRC23, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, P3H3, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, SPSB2, TPI1, USP5, ZNF705A 0 0 1 0 0 0 1
A2ML1, ACSM4, AICDA, APOBEC1, C12orf57, C1R, C1RL, C1S, C3AR1, CD163, CD163L1, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLSTN3, DPPA3, EMG1, FAM90A1, FOXJ2, GDF3, LPCAT3, MFAP5, MIR141, MIR200C, NANOG, NANOGNB, NECAP1, PEX5, PHB2, PTPN6, RBP5, RIMKLB, SLC2A14, SLC2A3, ZNF705A 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 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 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 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 1
ABCD1, ARHGAP4, ATP2B3, AVPR2, BCAP31, BGN, CCNQ, DUSP9, HAUS7, HCFC1, IDH3G, IRAK1, L1CAM, MAGEA1, MECP2, NAA10, OPN1LW, PDZD4, PLXNB3, PNCK, PNMA6E, RENBP, SLC6A8, SRPK3, SSR4, TMEM187, TREX2, ZFP92, ZNF275 1 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, FLNA, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, MECP2, NAA10, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TMEM187 1 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, SOX18, SRMS, STMN3, TCFL5, TNFRSF6B, TPD52L2, UCKL1, YTHDF1, ZBTB46, ZGPAT, ZNF512B 0 0 1 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 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 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 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 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 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 1
ACAD11, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
ACADVL, AIPL1, ALOX12, ASGR1, ASGR2, BACC1, BCL6B, C17orf100, CLEC10A, DLG4, FBXO39, KIAA0753, MED31, MIR195, MIR497HG, PIMREG, PITPNM3, RNASEK, SLC13A5, SLC16A11, SLC16A13, TEKT1, TXNDC17, XAF1 0 0 1 0 0 0 1
ACOT8, ADA, ARFGEF2, B4GALT5, CCN5, CD40, CDH22, CSE1L, CTSA, DBNDD2, DDX27, DNTTIP1, ELMO2, EPPIN, EPPIN-WFDC6, EYA2, HNF4A, KCNB1, KCNK15, KCNS1, MATN4, MMP9, NCOA3, NCOA5, NEURL2, OCSTAMP, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, PREX1, PTGIS, RBPJL, RIMS4, RNF114, SDC4, SEMG1, SEMG2, SERINC3, SLC12A5, SLC13A3, SLC2A10, SLC35C2, SLC9A8, SLPI, SNX21, SPATA2, SPATA25, SPINT3, SPINT4, STAU1, STK4, SULF2, SYS1, TNNC2, TOMM34, TP53RK, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZMYND8, ZNF334, ZNF335, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 1 0 0 0 0 0 1
ACP5, ANGPTL8, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KANK2, KLF1, LDLR, LYL1, MAN2B1, MAST1, MIR199A1, NACC1, NFIX, ODAD3, PRDX2, PRKCSH, RAB3D, RAD23A, RGL3, RNASEH2A, RTBDN, SMARCA4, SPC24, STX10, SWSAP1, SYCE2, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, WDR83, WDR83OS, YIPF2, ZNF136, ZNF20, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878 0 0 1 0 0 0 1
ACVR1B, ACVRL1, ANKRD33, FIGNL2, SCN8A 0 1 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 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 1
AIPL1, C17orf100, C1QBP, DERL2, DHX33, KIAA0753, MED31, MIS12, NLRP1, NUP88, PIMREG, PITPNM3, RPAIN, SLC13A5, TXNDC17, WSCD1 0 0 1 0 0 0 1
AIPL1, C17orf100, KIAA0753, MED31, PIMREG, PITPNM3, SLC13A5, TXNDC17 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 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 1
ALDH7A1 1 0 0 0 0 0 1
ALX3, KCNA10, KCNA2, KCNC4, LAMTOR5, PROK1, RBM15, SLC16A4, SLC6A17, UBL4B 1 0 0 0 0 0 1
ANKEF1, HAO1, JAG1, LAMP5, MKKS, PAK5, PLCB1, PLCB4, SLX4IP, SNAP25, TMX4 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 1
ARFGEF2, CSE1L, DDX27, KCNB1, STAU1, ZNFX1 0 0 1 0 0 0 1
ARHGAP4, AVPR2, FLNA, HCFC1, IRAK1, L1CAM, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
ARHGAP4, AVPR2, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, RENBP, TMEM187 1 0 0 0 0 0 1
ARHGAP4, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, RENBP, TMEM187 1 0 0 0 0 0 1
ATP6AP1, DNASE1L1, EMD, FAM3A, FAM50A, FLNA, G6PD, GDI1, IKBKG, LAGE3, MECP2, OPN1LW, OPN1MW, OPN1MW2, PLXNA3, RPL10, SLC10A3, TAFAZZIN, TEX28, TKTL1, UBL4A 1 0 0 0 0 0 1
BEST2, CACNA1A, CALR, DAND5, DHPS, DNASE2, FARSA, FBXW9, GADD45GIP1, GCDH, GET3, HOOK2, IER2, JUNB, KLF1, LYL1, MAN2B1, MAST1, NACC1, NFIX, PRDX2, RAD23A, RNASEH2A, RTBDN, STX10, SYCE2, TNPO2, TRIR, TRMT1, WDR83, WDR83OS, ZNF490, ZNF564, ZNF791 1 0 0 0 0 0 1
C3AR1, CLEC4C, DPPA3, FOXJ2, GDF3, NANOG, NANOGNB, NECAP1, SLC2A14, SLC2A3 0 0 1 0 0 0 1
C3AR1, NECAP1 0 0 1 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 1
CACNA1A, IER2, NACC1, STX10 0 0 1 0 0 0 1
CELF2 0 0 1 0 0 0 1
CHRNA4, COL20A1, KCNQ2 0 1 0 0 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, SRMS 0 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2 0 1 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 0 0 1 0 0 0 1
CIZ1, DNM1, MIR199B 0 0 1 0 0 0 1
CLEC3A, LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC126862410, LOC126862411, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090888, VAT1L, WWOX 0 0 1 0 0 0 1
DDX27, KCNB1, LOC112694720, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, SNORD12, SNORD12B, SNORD12C, STAU1, ZFAS1, ZNFX1 0 0 1 0 0 0 1
DNASE1L1, EMD, FLNA, HCFC1, IRAK1, MECP2, NAA10, OPN1LW, OPN1MW, OPN1MW2, RENBP, RPL10, TAFAZZIN, TEX28, TKTL1, TMEM187 1 0 0 0 0 0 1
DNM1, MIR199B, MIR3154 0 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212 0 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 0 0 1 0 0 0 1
IQSEC2 1 0 0 0 0 0 1
KCNQ2, LOC129391211 0 0 0 0 0 1 1
KCNQ3, LOC114827840 0 0 1 0 0 0 1
KCNT1, SOHLH1 0 0 1 0 0 0 1
LIMK1 1 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 1 0 0 0 0 0 1
LOC121530581, LOC130057054, LOC130057055, LOC130057056, LOC130057057, LOC130057058, LOC130057059, LOC130057060, LOC130057061, LOC130057062, LOC130057063, LOC130057064, LYSMD2, SCG3, TMOD2 0 0 1 0 0 0 1
LOC125177355, LOC132090431, LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 1
LOC125384577, PLCB1, RNU105B 0 0 1 0 0 0 1
LOC129937585, NPHP3-ACAD11, UBA5 1 0 0 0 0 0 1
LOC132090428, LOC132090429, WWOX 1 0 0 0 0 0 1
LOC132090430, WWOX 1 0 0 0 0 0 1
MED25, PNKP, PTOV1 1 0 0 0 0 0 1
NCF2 0 0 0 0 1 0 1
SCN1B 0 1 0 0 0 0 1
SPTAN1 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 160
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 688 176 4343 5327 743 0 11277
Genome-Nilou Lab 3 3 94 176 185 0 461
Illumina Laboratory Services, Illumina 3 3 243 53 114 0 383
Fulgent Genetics, Fulgent Genetics 20 8 101 72 10 0 211
GeneReviews 13 0 0 0 0 164 177
Institute of Human Genetics, University of Leipzig Medical Center 31 45 56 2 2 0 136
Baylor Genetics 31 21 82 0 0 0 133
OMIM 124 0 0 0 0 0 124
Neuberg Centre For Genomic Medicine, NCGM 5 7 71 0 0 0 83
New York Genome Center 5 3 71 0 0 0 79
Mendelics 28 24 8 7 8 0 75
Revvity Omics, Revvity 3 1 61 1 0 0 66
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 25 8 27 1 1 0 62
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 10 4 39 7 1 0 61
Génétique des Maladies du Développement, Hospices Civils de Lyon 29 17 4 1 0 0 51
3billion 12 9 15 7 0 0 43
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 7 3 19 2 0 0 31
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 8 9 12 0 1 0 30
Center for Molecular Medicine, Children’s Hospital of Fudan University 2 27 0 0 0 0 29
Juno Genomics, Hangzhou Juno Genomics, Inc 12 8 7 0 0 0 27
MGZ Medical Genetics Center 4 10 12 0 0 0 26
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 14 8 0 0 0 0 22
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 4 6 12 0 0 0 22
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 8 10 0 0 0 0 18
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 4 7 2 0 0 17
NeuroMeGen, Hospital Clinico Santiago de Compostela 4 13 0 0 0 0 17
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 17 0 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 11 5 0 0 0 0 16
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 9 0 2 0 15
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 4 8 0 0 0 14
RettBASE 9 0 4 0 0 0 13
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 5 5 3 0 0 0 13
Undiagnosed Diseases Network, NIH 8 4 1 0 0 0 13
Centogene AG - the Rare Disease Company 1 3 8 0 0 0 12
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 9 1 0 0 12
GenomeConnect - Brain Gene Registry 0 0 0 0 0 12 12
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 7 2 0 0 0 11
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 6 2 1 0 0 11
MVZ Medizinische Genetik Mainz 1 0 10 0 0 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 1 4 5 0 0 0 10
Center of Excellence for Medical Genomics, Chulalongkorn University 9 0 1 0 0 0 10
Solve-RD Consortium 0 10 0 0 0 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 3 5 0 9
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 4 5 0 0 0 0 9
Molecular Genetics Lab, CHRU Brest 4 4 1 0 0 0 9
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 1 5 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 0 6 0 8
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 2 3 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 0 0 6 1 0 0 7
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 6 1 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 4 0 0 0 0 6
Simons Lab, The University of Queensland 5 1 0 0 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 3 2 1 0 0 0 6
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 3 2 0 0 0 5
Genetic Services Laboratory, University of Chicago 1 4 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 2 1 0 5
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 4 0 0 0 0 5
Duke University Health System Sequencing Clinic, Duke University Health System 1 4 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 4 1 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 0 2 3 0 0 0 5
Laboratory of Medical Genetics, University of Torino 1 3 1 0 0 0 5
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 3 2 0 0 0 0 5
Breda Genetics srl 0 2 3 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 3 1 0 0 0 0 4
Institute of Human Genetics, Cologne University 0 3 1 0 0 0 4
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 4 0 0 0 0 0 4
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 3 0 0 0 0 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 3 0 0 0 4
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 2 0 2 0 0 0 4
Pediatric Department, Xiangya Hospital, Central South University 2 2 0 0 0 0 4
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 2 0 0 0 4
Neurogenetics, Research Centre for Medical Genetics 0 3 1 0 0 0 4
Department of Developmental Neurology, Medical University of Gdańsk 0 0 0 0 0 4 4
Athena Diagnostics 0 0 0 0 3 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 1 2 0 0 0 0 3
Blueprint Genetics 1 2 0 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 1 0 1 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 2 0 0 0 3
UCLA Clinical Genomics Center, UCLA 1 2 0 0 0 0 3
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 2 0 0 0 3
Neurogenetics Laboratory - MEYER, AOU Meyer 1 2 0 0 0 0 3
Division of Medical Genetics; Sainte-Justine Hospital 3 0 0 0 0 0 3
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 3 0 0 0 3
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 3 0 0 0 0 3
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 2 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 3 0 0 0 3
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 1 1 0 0 0 3
Institute of Human Genetics, University Hospital Muenster 1 0 1 1 0 0 3
DASA 1 2 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 1 1 1 0 0 3
University of British Columbia, BC Children's Hospital 0 3 0 0 0 0 3
Centre for Population Genomics, CPG 1 1 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 2 0 0 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 0 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 1 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 1 1 0 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology 1 1 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 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 2 0 0 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 2 0 0 0 0 0 2
Suma Genomics 1 0 1 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 0 2 0 0 0 2
Department of Clinical Genetics, Medical University of Lodz 1 1 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 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 0 2 0 0 0 2
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Laboratory of Prof. Karen Avraham, Tel Aviv University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 1 0 0 0 1
Institute of Experimental Endocrinology, Slovak Academy of Sciences 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 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 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 0 1
Department Of Genetics, Lifeline Super Speciality Hospital, Adoor. 1 0 0 0 0 0 1
Tehran Medical Genetics Laboratory 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 1 0 0 0 0 0 1
National Institute for Data Science in Health and Medicine, School of Medicine, Xiamen University 1 0 0 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 1 0 0 0 0 0 1
National Institute of Neuroscience, National Center of Neurology and Psychiatry 1 0 0 0 0 0 1
Shieh Lab, University of California, San Francisco 0 1 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1
Massachusetts General Hospital Undiagnosed Diseases Network, Massachusetts General Hospital 1 0 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Pediatric EEG Lab, Tongji Hospital, Huazhong University of Science and Technology 1 0 0 0 0 0 1
University Medical Center Utrecht, University Utrecht 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 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 1
Cytogenetique et Genetique Moleculaire, CHU Besancon 0 1 0 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 1 0 0 0 1
Laboratory of Molecular Instruments for Neurobiology, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry of the Russian Academy of Sciences 0 1 0 0 0 0 1

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