ClinVar Miner

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

Coded as:
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
14 11 29 1 0 55

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 12 9 24 1 46
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, 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: 28
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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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 1 0 3
MGZ Medical Genetics Center 1 0 1 0 2
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 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
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 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
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 1

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