ClinVar Miner

Variants studied for hydrocephalus

Included ClinVar conditions (29):
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 not provided total
87 107 258 222 104 15 769

Gene and significance breakdown #

Total genes and gene combinations: 51
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PIK3R2 4 4 88 120 55 2 269
AKT3 5 7 31 52 14 3 108
CCDC88C 6 31 31 12 8 1 87
MPDZ 17 16 38 3 3 2 76
L1CAM 28 17 15 3 4 0 65
LOC130063979, PIK3R2 0 1 19 23 8 0 51
WDR81 3 2 14 4 8 0 30
CCND2 8 4 5 1 2 7 19
LOC130063980, PIK3R2 0 0 1 4 1 0 6
SMARCC1 0 5 0 0 0 0 5
​intergenic 1 1 2 0 0 0 4
CFAP43 2 1 1 0 0 0 4
AKT3, SDCCAG8 1 0 1 0 0 0 2
DNAH9 0 2 0 0 0 0 2
PLOD1 2 0 0 0 0 0 2
PMPCA 2 0 0 0 0 0 2
PTCH1 0 2 0 0 0 0 2
TRIM71 0 2 0 0 0 0 2
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO1, NOMO3, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3 1 0 0 0 0 0 1
ACADM 0 1 0 0 0 0 1
ACAT2, AFDN, AGPAT4, AIRN, C6orf118, C6orf120, CCR6, CEP43, DACT2, DLL1, DYNLT2, ERMARD, EZR, FAM120B, FNDC1, FRMD1, GPR31, IGF2R, KIF25, LINC02487, LINC02901, LOC729681, LPA, MAP3K4, MAS1, MPC1, MRPL18, PACRG, PDCD2, PDE10A, PHF10, PLG, PNLDC1, PRKN, PRR18, PSMB1, QKI, RNASET2, RPS6KA2, RSPH3, SDIM1, SFT2D1, SLC22A1, SLC22A2, SLC22A3, SMOC2, SOD2, SYTL3, TAGAP, TBP, TBXT, TCP1, THBS2, TTLL2, UNC93A, WDR27, WTAP 1 0 0 0 0 0 1
ACTN2, AGT, AKT3, ARID4B, ARV1, B3GALNT2, BECN2, C1orf131, C1orf198, CAPN9, CEP170, CHML, CHRM3, COA6, COG2, DISC1, DISC1-IT1, DISC2, EDARADD, EGLN1, ERO1B, EXO1, EXOC8, FAM89A, FH, FMN2, GALNT2, GGPS1, GNG4, GNPAT, GPR137B, GREM2, HEATR1, IRF2BP2, KCNK1, KMO, LGALS8, LINC00184, LINC00582, LINC01132, LINC01139, LINC01347, LINC01348, LINC01354, LINC01737, LINC01744, LINC01745, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927604, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC108004528, LOC110121205, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC111365197, LOC111365208, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC121725076, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122526782, LOC126264117, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129869688, LOC129929020, LOC129932752, LOC129932753, LOC129932754, LOC129932755, LOC129932756, LOC129932757, LOC129932758, LOC129932759, LOC129932760, LOC129932761, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932775, LOC129932776, LOC129932777, LOC129932778, LOC129932779, LOC129932780, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090677, LYST, MAP10, MAP1LC3C, MAP3K21, MIR1182, MIR1537, MIR3123, MIR4427, MIR4428, MIR4671, MIR4677, MIR4753, MT1HL1, MTR, NID1, NTPCR, OPN3, PCNX2, PGBD5, PLD5, RBM34, RGS7, RYR2, SDCCAG8, SIPA1L2, SLC35F3, SNORA14B, SPRTN, TARBP1, TBCE, TOMM20, TRIM67, TSNAX, TSNAX-DISC1, TTC13, WDR64, ZP4 1 0 0 0 0 0 1
ADSS2, AKT3, CATSPERE, CEP170, CHML, COX20, DESI2, EXO1, FH, HNRNPU, KMO, MAP1LC3C, OPN3, PLD5, SDCCAG8, SPMIP3, WDR64, ZBTB18 0 0 1 0 0 0 1
AKT3, AKT3-IT1, CEP170, LINC01347, LINC02774, LOC110120698, LOC111828504, LOC112577566, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC129388799, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC440742, MIR4677, PLD5, SDCCAG8, SPMIP3, ZBTB18 1 0 0 0 0 0 1
AKT3, CEP170, SDCCAG8 0 0 1 0 0 0 1
ANO6 0 1 0 0 0 0 1
ARFGEF2 0 1 0 0 0 0 1
ARMC6, ARRDC2, BORCS8, CCDC124, CERS1, COMP, COPE, CRLF1, CRTC1, DDX49, ELL, FKBP8, GDF1, GDF15, HOMER3, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLHL26, KXD1, LRRC25, LSM4, MAST3, MEF2B, MPV17L2, NR2C2AP, PDE4C, PGPEP1, PIK3R2, RAB3A, REX1BD, RFXANK, RPL18A, SLC25A42, SLC5A5, SSBP4, SUGP2, TMEM161A, TMEM59L, UBA52, UPF1 0 0 1 0 0 0 1
ATN1 0 0 1 0 0 0 1
BLTP1 0 1 0 0 0 0 1
CCDC88C, LOC130056326 0 0 0 0 1 0 1
DOCK6 0 0 1 0 0 0 1
DPH1 0 1 0 0 0 0 1
DUSP1, ERGIC1, NEURL1B 0 0 1 0 0 0 1
FGF18, NPM1 0 0 1 0 0 0 1
FGFR2 0 1 0 0 0 0 1
FSD1L 1 0 0 0 0 0 1
FZD3 0 1 0 0 0 0 1
IFT56 1 0 0 0 0 0 1
IPO11 0 0 1 0 0 0 1
KCNT1 0 0 1 0 0 0 1
KIF4A 0 1 0 0 0 0 1
LOC100507346, PTCH1 0 1 0 0 0 0 1
LOC130059847, TUBB3 0 0 1 0 0 0 1
NID1 0 1 0 0 0 0 1
PDGFRB 1 0 0 0 0 0 1
POMGNT1 1 0 0 0 0 0 1
RANBP17 0 0 1 0 0 0 1
SGCD 0 1 0 0 0 0 1
TMEM92 0 1 0 0 0 0 1
ZEB2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 85
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 4 2 126 198 78 0 408
Fulgent Genetics, Fulgent Genetics 2 32 26 17 0 0 77
OMIM 35 0 0 0 0 0 35
Baylor Genetics 4 2 26 0 0 0 32
Genome-Nilou Lab 0 0 0 0 27 0 27
Revvity Omics, Revvity 3 4 16 0 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 11 8 0 0 0 23
Yale Center for Mendelian Genomics, Yale University 0 12 4 0 0 0 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 0 3 0 0 0 13
GeneReviews 0 0 0 0 0 11 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 4 1 6 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 1 3 7 0 0 0 11
3billion, Medical Genetics 3 1 1 5 0 0 10
New York Genome Center 0 1 8 0 0 0 9
Mendelics 1 1 1 1 4 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 7 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 2 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 3 3 1 0 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 0 4 0 5
MGZ Medical Genetics Center 0 2 2 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 4 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 3 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 3
Dobyns Lab, Seattle Children's Research Institute 1 2 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 2 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 1 0 0 0 0 3
Genetics Department, Polish Mother's Memorial Hospital Research Institute 1 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Gene Discovery Core-Manton Center, Boston Children's Hospital 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 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 2 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 2 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 1 0 0 0 2
Daryl Scott Lab, Baylor College of Medicine 1 0 1 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 2 0 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
DASA 2 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, CHU RENNES 0 0 1 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
TIDEX, University of British Columbia 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Clinical Genetics Center, Tokyo Medical University Hospital 1 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 0 1 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Genetic Metabolism Laboratory, West China Second University Hospital, Sichuan University 1 0 0 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Noor Gene 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 0 1 0 0 0 0 1
Department Of Medical Genetics, Apollo Hospitals 0 1 0 0 0 0 1

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