ClinVar Miner

Variants studied for Early infantile epileptic encephalopathy with suppression bursts

Coded as:
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Gene type:
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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
1802 587 5417 5671 634 18 14126

Gene and significance breakdown #

Total genes and gene combinations: 88
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SPTAN1 34 21 924 1184 145 0 2308
LOC102724058, SCN1A 469 151 672 365 39 0 1696
KCNQ2 374 108 533 555 52 0 1622
SCN8A 85 50 711 672 64 0 1582
SCN1A 505 137 487 407 38 0 1574
HCN1 11 4 367 393 31 0 806
STXBP1 130 26 171 338 59 0 724
KCNH5 2 2 318 314 70 0 705
CACNA2D2 26 15 258 363 24 0 686
ARHGEF15 0 1 353 209 37 0 600
SLC25A22 13 3 156 230 16 0 418
GNAO1 36 13 101 178 27 0 355
ST3GAL3 5 9 117 165 12 0 308
CACNA2D2, LOC101928965, LOC127898564 12 4 112 153 6 0 287
CACNA2D2, LOC127898564 2 0 42 96 5 0 145
LOC114803470, SCN8A 2 1 37 32 2 0 74
SNAP25 1 18 7 0 0 0 25
SCN2A 24 0 0 0 0 0 24
LOC130002651, STXBP1 3 0 6 11 3 0 23
SCN3A 2 0 0 0 3 18 22
CACNA1E 0 13 2 1 1 0 17
CHRNA4, KCNQ2 10 0 5 0 0 0 15
SCN1A, SCN9A 4 0 2 0 0 0 6
ANO4 5 0 0 0 0 0 5
SCN1A, TTC21B 5 0 0 0 0 0 5
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 2 0 2 0 0 0 4
EEF1A2, KCNQ2 3 0 1 0 0 0 4
KCNB1 2 2 0 0 0 0 4
ABHD16B, ARFRP1, CHRNA4, DNAJC5, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, LIME1, PPDPF, PTK6, RTEL1, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT 2 0 1 0 0 0 3
ARTN, ATP6V0B, B4GALT2, CCDC24, DPH2, IPO13, SLC6A9, ST3GAL3 1 1 1 0 0 0 3
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC126806396, LOC129388938, LOC129935043, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN3A, SCN9A, TTC21B 3 0 0 0 0 0 3
DYNC2I2, SPTAN1 1 0 1 1 0 0 3
GOT2 0 3 0 0 0 0 3
ALG13 0 0 2 0 0 0 2
CDKL5 2 0 0 0 0 0 2
CSRNP3, GALNT3, SCN1A, SCN2A, SCN3A, TTC21B 0 0 2 0 0 0 2
DYNC2I2, LOC126860772, SPTAN1 1 0 0 1 0 0 2
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 2 0 0 0 0 0 2
EEF1A2, KCNQ2, PPDPF 2 0 0 0 0 0 2
LOC114827831, STXBP1 0 0 0 2 0 0 2
NPHP3-ACAD11, UBA5 2 0 0 0 0 0 2
PIGP 0 0 2 0 0 0 2
PIGQ 0 1 1 0 0 0 2
SLC32A1 0 0 2 0 0 0 2
SZT2 0 0 2 0 0 0 2
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
ABL1, AIF1L, AK8, ASB6, ASS1, BARHL1, C9orf50, C9orf78, CEL, CFAP77, CRAT, DDX31, DOLK, DOLPP1, DYNC2I2, ENDOG, EXOSC2, FAM78A, FIBCD1, FNBP1, FUBP3, GFI1B, GPR107, GTF3C4, GTF3C5, HMCN2, IER5L, KYAT1, LAMC3, LINC02913, LRRC8A, MED27, MIGA2, NCS1, NTMT1, NTNG2, NUP188, NUP214, PHYHD1, PKN3, PLPP7, POMT1, PRDM12, PRRC2B, PRRX2, PTGES, PTPA, QRFP, RAPGEF1, SET, SETX, SH3GLB2, SPACA9, SPOUT1, SPTAN1, TBC1D13, TOR1A, TOR1B, TSC1, TTF1, UCK1, USP20, ZDHHC12, ZER1 0 0 1 0 0 0 1
ADGRG1, ADGRG3, ADGRG5, AMFR, ARL2BP, BBS2, CCDC102A, CCL17, CCL22, CETP, CFAP20, CFAP263, CIAPIN1, CNGB1, CNOT1, COQ9, CPNE2, CSNK2A2, CX3CL1, DOK4, DRC7, GINS3, GNAO1, GOT2, HERPUD1, KATNB1, KIFC3, MIR138-2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NDRG4, NLRC5, NUDT21, NUP93, OGFOD1, PLLP, POLR2C, PRSS54, PSME3IP1, RSPRY1, SETD6, SLC12A3, SLC38A7, SPMIP8, USB1, ZNF319 1 0 0 0 0 0 1
ADRM1, ARFGAP1, BHLHE23, BIRC7, CABLES2, CHRNA4, COL20A1, COL9A3, DIDO1, GATA5, GID8, HAR1A, HAR1B, KCNQ2, LAMA5, MIR1-1, MIR1-1HG, MIR133A2, MRGBP, NKAIN4, NTSR1, OGFR, OSBPL2, RBBP8NL, RPS21, SLC17A9, SLCO4A1, TCFL5, YTHDF1 0 0 1 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 1 0 0 0 0 0 1
AK1, BBLN, CDK9, CERCAM, CFAP157, CIZ1, COQ4, DNM1, DPM2, EEIG1, ENG, FPGS, GLE1, GOLGA2, LCN2, LOC101929270, LOC102723566, LOC106783495, LOC113839510, LOC113839511, LOC113839512, LOC113839513, LOC113839514, LOC113839515, LOC113839516, LOC113839517, LOC113839524, LOC114827831, LOC116216099, LOC116216100, LOC124310649, LOC124310650, LOC124310651, LOC124310652, LOC124310653, LOC124310654, LOC126860771, LOC129390114, LOC130002651, LOC130002652, LOC130002653, LOC130002654, LOC130002655, LOC130002656, LOC130002657, LOC130002658, LOC130002659, LOC130002660, LOC130002661, LOC130002662, LOC130002663, LOC130002664, LOC130002665, LOC130002666, LOC130002667, LOC130002668, LOC130002669, LOC130002670, LOC130002671, LOC130002672, LOC130002673, LOC130002674, LOC130002675, LOC130002676, LOC130002677, LOC130002678, LOC130002679, LOC130002680, LOC130002681, LOC130002682, LOC130002683, LOC130002684, LOC130002685, LOC130002686, LOC130002687, LOC130002688, LOC130002689, LOC130002690, LOC130002691, LOC130002692, LOC130002693, LOC130002694, LOC130002695, LOC130002696, LOC130002697, LOC130002698, LOC130002699, LOC130002700, LOC130002701, LOC130002702, LOC130002703, LOC130002704, LOC130002705, LOC130002706, LOC130002707, LOC130002708, LOC130002709, LOC130002710, LOC130002711, LOC130002712, LOC130002713, MIR199B, MIR219A2, MIR219A2HG, MIR219B, MIR2861, MIR3154, MIR3911, MIR3960, MIR4672, NAIF1, ODF2, PIP5KL1, PTGES2, PTRH1, SH2D3C, SLC25A25, SLC27A4, SPTAN1, ST6GALNAC4, ST6GALNAC4-ST6GALNAC6-AK1, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRR-TCT3-1, TRUB2, TTC16, URM1 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 1
AKR1A1, ARMH1, ARTN, ATP6V0B, B4GALT2, BEST4, BTBD19, CCDC17, CCDC24, DMAP1, DPH2, DYNLT4, EIF2B3, ERI3, GPBP1L1, HECTD3, HPDL, IPO13, IPP, KIF2C, KLF17, MAST2, MMACHC, MUTYH, NASP, PIK3R3, PLK3, POMGNT1, PRDX1, PTCH2, RNF220, RPS8, SLC6A9, ST3GAL3, TESK2, TMEM53, TMEM69, TOE1, TSPAN1, UROD, ZSWIM5 0 0 1 0 0 0 1
AMIGO3, APEH, BSN, C3orf18, CACNA2D2, CAMKV, CDHR4, CISH, CYB561D2, DAG1, GMPPB, GNAI2, GNAT1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, INKA1, IP6K1, LSMEM2, MAPKAPK3, MON1A, MST1, MST1R, NAA80, NPRL2, RASSF1, RBM5, RBM6, RNF123, SEMA3B, SEMA3F, SLC38A3, TMEM115, TRAIP, TUSC2, UBA7, ZMYND10 1 0 0 0 0 0 1
ANO9, AP2A2, ART1, ART5, ASCL2, B4GALNT4, BRSK2, C11orf21, CARS1, CD151, CD81, CDHR5, CDKN1C, CEND1, CHID1, CHRNA10, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, HRAS, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, 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, MRGPRE, MRGPRG, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, NAP1L4, NUP98, OSBPL5, PGAP2, PHLDA2, PHRF1, PIDD1, PKP3, PNPLA2, POLR2L, PTDSS2, RASSF7, RHOG, RNH1, RPLP2, SCT, SIGIRR, SLC25A22, SLC67A1, STIM1, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TRPM5, TSPAN32, TSPAN4, TSSC4, ZNF195 0 0 1 0 0 0 1
ANXA2R, C5orf34, CCDC152, CCL28, FGF10, GHR, HCN1, HMGCS1, MRPS30, NNT, PAIP1, SELENOP, TMEM267, ZNF131 0 0 1 0 0 0 1
ARFGAP1, BHLHE23, BIRC7, CHRNA4, COL20A1, COL9A3, DIDO1, GID8, HAR1A, HAR1B, KCNQ2, NKAIN4, SLC17A9, TCFL5, YTHDF1 1 0 0 0 0 0 1
BSCL2, HNRNPUL2-BSCL2 0 1 0 0 0 0 1
CACNA2D2, CYB561D2, NPRL2, TMEM115, ZMYND10 0 0 1 0 0 0 1
CDHR5, CEND1, DEAF1, DRD4, EPS8L2, GATD1, HRAS, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, PHRF1, RASSF7, SCT, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 0 1
CEND1, DEAF1, EPS8L2, GATD1, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 0 1
CHD2, LOC130057985 0 0 0 1 0 0 1
CHRNA4, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2 1 0 0 0 0 0 1
CHRNA4, EEF1A2, KCNQ2, PPDPF 1 0 0 0 0 0 1
CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC126806396, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, SCN1A, SCN2A, SCN9A, TTC21B 0 0 1 0 0 0 1
CSRNP3, GALNT3, SCN1A, SCN2A, SCN9A, TTC21B 0 0 1 0 0 0 1
CUX2 0 0 1 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 1 0 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391211, LOC129391212, LOC132090595, LOC132090596 1 0 0 0 0 0 1
EEF1A2, KCNQ2, LOC129391212, LOC130066357, LOC132090595, LOC132090596, PPDPF, PTK6 1 0 0 0 0 0 1
FGF10, HCN1, MRPS30 0 0 1 0 0 0 1
GABRA2 0 0 1 0 0 0 1
GALNT3, SCN1A, TTC21B 1 0 0 0 0 0 1
GOT2, LOC126862363 0 1 0 0 0 0 1
GRIA3 1 0 0 0 0 0 1
HCN1, LOC126807381 0 0 1 0 0 0 1
ITPA 1 0 0 0 0 0 1
KCNC2 0 1 0 0 0 0 1
KCNQ2, LOC125387319 1 0 0 0 0 0 1
KCNQ2, LOC125387319, LOC129391211 1 0 0 0 0 0 1
LOC102724058, LOC129935046, LOC129935047, SCN1A, SCN9A, TTC21B 1 0 0 0 0 0 1
MAST3 0 0 1 0 0 0 1
MIR3911, STXBP1 0 1 0 0 0 0 1
SCN1A, SCN9A, TTC21B 1 0 0 0 0 0 1
SLC12A5 0 0 1 0 0 0 1
TNK2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 1761 546 5393 5669 630 0 13999
Institute of Human Genetics, University of Leipzig Medical Center 1 18 6 0 0 0 25
Neurology Department, Shenzhen Children's Hospital 23 0 0 0 0 0 23
Channelopathy-Associated Epilepsy Research Center 0 0 0 0 0 18 18
Yale Center for Mendelian Genomics, Yale University 0 13 0 0 0 0 13
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 8 1 1 0 11
Fulgent Genetics, Fulgent Genetics 0 0 7 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 4 0 0 0 5
Institute of Medical Genetics, University of Zurich 5 0 0 0 0 0 5
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen 2 0 0 0 3 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 4 0 0 0 0 0 4
TIDEX, University of British Columbia 0 4 0 0 0 0 4
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades 2 2 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
Care4Rare-SOLVE, CHEO 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Functional Genomics, Research Centre for Medical Genetics 0 0 0 1 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center 0 1 0 0 0 0 1
Neurogenetics and Molecular Medicine Laboratory, Institut De Recerca Sant Joan De Déu 1 0 0 0 0 0 1

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