ClinVar Miner

Variants studied for neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

Included ClinVar conditions (1):
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 total
17 13 35 1 0 66

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
DLL1 15 11 30 1 57
DLL1, LOC126859913 1 1 5 0 7
AACS, ABCB9, ACADS, ADGRD1, ANAPC5, ANHX, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, BRI3BP, C12orf43, CABP1, CAMKK2, CCDC60, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CIT, CLIP1, COQ5, COX6A1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, DYNLL1, EIF2B1, EP400, FBRSL1, FBXO21, FBXW8, FZD10, GATC, GCN1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HPD, HSPB8, IL31, KDM2B, KMT5A, KNTC1, KSR2, LRCOL1, LRRC43, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MSI1, MTRFR, MUC8, NCOR2, NOC4L, NOS1, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PEBP1, PGAM5, PITPNM2, PIWIL1, PLA2G1B, POLE, POP5, PRKAB1, PSMD9, PUS1, PXMP2, PXN, RAB35, RAN, RFC5, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF10, RNF34, RPLP0, RSRC2, SBNO1, SCARB1, SETD1B, SFSWAP, SIRT4, SLC15A4, SNRNP35, SPPL3, SRRM4, SRSF9, STX2, SUDS3, TAOK3, TCTN2, TESC, TMED2, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TRIAP1, UBC, ULK1, UNC119B, VPS33A, VPS37B, VSIG10, WSB2, ZCCHC8, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF664, ZNF84, ZNF891 0 1 0 0 1
AFDN, AFDN-DT, C6orf118, C6orf120, CAHM, CCR6, CEP43, DACT2, DKFZp451B082, DLL1, DYNLT2, ERMARD, FAM120B, FRMD1, GPR31, HGC6.3, HPAT5, KIF25, LINC00242, LINC00473, LINC00574, LINC00602, LINC01558, LINC01615, LINC01624, LINC02487, LINC02519, LINC02538, LINC02544, LNCDAT, LOC100131532, LOC100289495, LOC101929297, LOC101929420, LOC101929460, LOC102724152, LOC102724220, LOC102724357, LOC102724511, LOC102725048, LOC105378098, LOC105378120, LOC105378123, LOC105378127, LOC105378130, LOC105378137, LOC105378146, LOC108254680, LOC108663996, LOC110121051, LOC110121075, LOC110121231, LOC113174973, LOC116183078, LOC121132714, LOC121132715, LOC121132716, LOC121132717, LOC121132718, LOC121740673, LOC121740674, LOC123881358, LOC123881359, LOC123881360, LOC123881361, LOC123881362, LOC123881363, LOC123881364, LOC123881365, LOC123881366, LOC123881367, LOC123881368, LOC123881369, LOC123881370, LOC123881371, LOC126859868, LOC126859869, LOC126859870, LOC126859871, LOC126859872, LOC126859873, LOC126859874, LOC126859875, LOC126859876, LOC126859877, LOC126859878, LOC126859879, LOC126859880, LOC126859881, LOC126859882, LOC126859883, LOC126859884, LOC126859885, LOC126859886, LOC126859887, LOC126859888, LOC126859889, LOC126859890, LOC126859891, LOC126859892, LOC126859893, LOC126859894, LOC126859895, LOC126859896, LOC126859897, LOC126859898, LOC126859899, LOC126859900, LOC126859901, LOC126859902, LOC126859903, LOC126859904, LOC126859905, LOC126859906, LOC126859907, LOC126859908, LOC126859909, LOC126859910, LOC126859911, LOC126859912, LOC126859913, LOC126859914, LOC126859915, LOC129389718, LOC129389719, LOC129389720, LOC129389721, LOC129389722, LOC129389723, LOC129389724, LOC129389725, LOC129997634, LOC129997635, LOC129997636, LOC129997637, LOC129997638, LOC129997639, LOC129997640, LOC129997641, LOC129997642, LOC129997643, LOC129997644, LOC129997645, LOC129997646, LOC129997647, LOC129997648, LOC129997649, LOC129997650, LOC129997651, LOC129997652, LOC129997653, LOC129997654, LOC129997655, LOC129997656, LOC129997657, LOC129997658, LOC129997659, LOC129997660, LOC129997661, LOC129997662, LOC129997663, LOC129997664, LOC129997665, LOC129997666, LOC129997667, LOC129997668, LOC129997669, LOC129997670, LOC129997671, LOC129997672, LOC129997673, LOC129997674, LOC129997675, LOC129997676, LOC129997677, LOC129997678, LOC129997679, LOC129997680, LOC129997681, LOC129997682, LOC129997683, LOC129997684, LOC129997685, LOC129997686, LOC129997687, LOC129997688, LOC129997689, LOC129997690, LOC129997691, LOC129997692, LOC129997693, LOC129997694, LOC129997695, LOC129997696, LOC129997697, LOC129997698, LOC129997699, LOC129997700, LOC129997701, LOC129997702, LOC129997703, LOC129997704, LOC129997705, LOC129997706, LOC129997707, LOC129997708, LOC129997709, LOC129997710, LOC129997711, LOC129997712, LOC129997713, LOC129997714, LOC129997715, LOC129997716, LOC129997717, LOC132089377, LOC132089378, LOC132089379, LOC132090772, LOC132090773, LOC132090774, LOC154449, LOC285804, LOC441179, LOC729681, MEAT6, MIR1913, MIR3939, MIR4644, MPC1, MPC1-DT, PACRG, PDCD2, PDE10A, PHF10, PRKN, PRR18, PSMB1, QKI, RAMACL, RNASET2, RPS6KA2, RPS6KA2-IT1, SFT2D1, SMOC2, TBP, TBXT, THBS2, TTLL2, UNC93A, WDR27 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
Revvity Omics, Revvity 0 0 9 0 9
New York Genome Center 0 0 6 0 6
OMIM 5 0 0 0 5
Baylor Genetics 0 0 4 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 1 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 1 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 3
MGZ Medical Genetics Center 1 0 1 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 1 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 2
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 1
Breda Genetics srl 0 0 1 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 1
Eurofins-Biomnis 0 1 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 1

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