ClinVar Miner

Variants studied for West syndrome

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
680 273 3147 3137 695 18 7791

Gene and significance breakdown #

Total genes and gene combinations: 92
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRIN2B 46 33 346 517 159 1 1085
SIK1 5 2 419 417 83 0 911
CDKL5 295 102 220 244 74 1 896
PLCB1 14 14 428 416 49 0 884
PNKP 67 16 351 410 36 0 880
WWOX 50 13 298 250 45 0 654
TBC1D24 58 14 322 235 21 0 650
ARX 32 13 179 265 20 0 506
PIK3AP1 0 0 201 159 32 0 392
SPTAN1 16 37 130 57 126 1 337
MAF, WWOX 5 0 81 51 7 0 144
CDKL5, RS1 9 2 57 46 23 1 131
ARX, LOC109610631 14 3 44 61 9 1 126
SCN2A 23 4 0 0 0 2 29
ST3GAL3 5 1 10 2 3 0 21
GUF1 1 1 5 0 6 0 13
LOC130004439, PIK3AP1 0 0 5 3 0 0 8
KCNH5 6 0 0 0 0 0 6
KCNQ2 3 2 0 0 0 1 6
CACNA1A 0 1 3 0 0 0 4
CDKL5, LOC130067999 4 0 0 0 0 0 4
LOC130065408, PLCB1 0 0 3 0 1 0 4
SYNJ1 0 1 2 0 0 1 4
ARX, PCYT1B, PDK3, POLA1 1 0 2 0 0 0 3
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 2 0 0 0 3
LOC130004450, PIK3AP1 0 0 1 2 0 0 3
LOC130065410, PLCB1 0 0 1 1 1 0 3
MAST4 0 2 1 0 0 0 3
SCN1A 2 1 0 0 0 0 3
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 0 0 2 0 0 0 2
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 1 0 1 0 0 0 2
AGPAT3, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 1 0 0 0 2
ALDH7A1 0 0 2 0 0 0 2
ALG13 0 0 1 0 0 1 2
APOLD1, CDKN1B, DDX47, EMP1, FAM234B, GPRC5A, GPRC5D, GRIN2B, GSG1, HEBP1 1 0 1 0 0 0 2
ARHGEF9 0 0 0 0 0 2 2
CCNF, TBC1D24 0 0 2 1 0 0 2
DNM1 1 0 0 0 0 1 2
KCNA2 0 2 0 0 0 1 2
LOC102724058, SCN1A 0 0 1 0 0 1 2
LOC112486209, LOC132090435, WWOX 1 1 0 0 0 0 2
PACS2 1 0 1 0 0 0 2
SCN8A 0 2 0 0 0 0 2
STXBP1 1 1 0 0 0 0 2
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, EME2, FAHD1, GFER, HAGH, HS3ST6, IGFALS, MEIOB, MIR1225, MLST8, MRPS34, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBC1D24, TBL3, TEDC2, TRAF7, TSC2, ZNF598 0 0 1 0 0 0 1
ABCA3, BRICD5, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTN3, PGP, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 0 0 1 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
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, NDUFV3, PDE9A, PDXK, PKNOX1, PWP2, RRP1, RRP1B, RSPH1, SIK1, SLC37A1, TRAPPC10, U2AF1, WDR4 0 0 1 0 0 0 1
AGPAT3, CBS, CRYAA, CSTB, GATD3, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10, U2AF1 0 0 1 0 0 0 1
AMDHD2, ATP6V0C, BICDL2, CEMP1, CLDN6, CLDN9, ELOB, FLYWCH1, FLYWCH2, HCFC1R1, IL32, KCTD5, KREMEN2, MMP25, PAQR4, PDPK1, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SRRM2, TBC1D24, THOC6, TNFRSF12A, ZG16B, ZSCAN10 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
APOLD1, ARHGDIB, ART4, ATF7IP, BCL2L14, BORCS5, C12orf60, CDKN1B, CREBL2, DDX47, DUSP16, EMP1, EPS8, ERP27, ETV6, FAM234B, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, H2AJ, H4C16, HEBP1, LRP6, MANSC1, MGP, PDE6H, PLBD1, PTPRO, RERG, SMCO3, WBP11 0 0 1 0 0 0 1
ARFGAP1, BIRC7, CHRNA4, COL20A1, EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, NKAIN4, PPDPF, PTK6, RTEL1, SRMS, STMN3, YTHDF1 1 0 0 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 1
ATMIN, BCO1, C16orf46, CDYL2, CENPN, CMC2, CMIP, DYNLRB2, GAN, GCSH, MAF, PKD1L2, PLCG2, WWOX 1 0 0 0 0 0 1
ATP6V1A 0 0 1 0 0 0 1
B3GALT1, CSRNP3, GALNT3, LOC100506124, LOC102724058, LOC120977013, LOC122847309, LOC126806396, LOC126806397, LOC129388938, LOC129935044, LOC129935045, LOC129935046, LOC129935047, LOC129935048, SCN1A, SCN2A, SCN7A, SCN9A, TTC21B, XIRP2 1 0 0 0 0 0 1
BEND2, CDKL5, NHS, RAI2, SCML1, SCML2 1 0 0 0 0 0 1
CDKL5, LOC121853052, LOC130067999 1 0 0 0 0 0 1
CFAP96, UFSP2 1 0 0 0 0 0 1
CHD2 0 0 0 0 0 1 1
CSNK1E, LOC126863148, TPTEP2-CSNK1E 1 0 0 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 0 0 0 1
DYNC2I2, GLE1, SPTAN1 0 1 0 0 0 0 1
GABRB3 0 0 1 0 0 0 1
GAD1 0 0 1 0 0 0 1
GNAO1 0 1 0 0 0 0 1
GRIN1 0 1 0 0 0 0 1
HNRNPU 0 0 0 0 0 1 1
KCNT1 1 0 0 0 0 0 1
LOC110120570, LOC112486209, LOC121587562, LOC125177355, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC110120570, LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC112486209, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, WWOX 0 0 1 0 0 0 1
LOC125384577, PLCB1, RNU105B 0 0 1 0 0 0 1
LOC132090427, LOC132090428, LOC132090429, LOC132090888, WWOX 1 0 0 0 0 0 1
LOC132090428, LOC132090429, WWOX 0 0 1 0 0 0 1
LOC132090432, LOC132090433, LOC132090434, WWOX 1 0 0 0 0 0 1
MECP2 0 0 1 0 0 0 1
MED25, PNKP, PTOV1 1 0 0 0 0 0 1
NAPB 0 0 1 0 0 0 1
NRXN2 0 0 1 0 0 0 1
PCDH19 0 0 1 0 0 0 1
REPS2 0 0 1 0 0 0 1
SCN1B 0 0 0 0 0 1 1
SLC25A12 0 1 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 1
SLC35A2 0 0 1 0 0 0 1
SNAP25 1 0 0 0 0 0 1
SZT2 0 0 1 0 0 0 1
TUBA1A 1 0 0 0 0 0 1
UGDH 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 112
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 445 107 2768 3049 545 0 6914
Genome-Nilou Lab 0 4 67 31 163 0 265
Illumina Laboratory Services, Illumina 0 0 92 7 6 0 105
RettBASE 75 8 4 0 0 0 87
Institute of Human Genetics, University of Leipzig Medical Center 18 26 23 3 1 0 71
Fulgent Genetics, Fulgent Genetics 1 1 32 22 4 0 60
Genetic Services Laboratory, University of Chicago 23 5 27 0 0 0 55
OMIM 46 0 0 0 0 0 46
Baylor Genetics 2 6 34 0 0 0 42
Mendelics 24 7 2 3 6 0 42
Neuberg Centre For Genomic Medicine, NCGM 1 6 32 0 0 0 39
Revvity Omics, Revvity 3 1 22 0 0 0 26
3billion 1 7 8 8 0 0 24
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 16 4 0 0 23
Neurology Department, Shenzhen Children's Hospital 22 0 0 0 0 0 22
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 14 2 0 0 20
New York Genome Center 1 3 13 2 0 0 19
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 11 2 5 0 0 0 18
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 8 7 3 0 0 0 18
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 4 1 3 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 1 6 2 0 0 14
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 6 2 0 0 11
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 6 5 0 0 0 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 10 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 5 6 0 11
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 7 1 0 0 0 8
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 4 1 1 1 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 5 0 7
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 1 0 0 0 7
MGZ Medical Genetics Center 1 2 3 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 2 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Juno Genomics, Hangzhou Juno Genomics, Inc 4 0 2 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 2 0 0 0 6
Solve-RD Consortium 0 6 0 0 0 0 6
GenomeConnect - Brain Gene Registry 0 0 0 0 0 5 5
Department of Neurology, Children’s Hospital of Chongqing Medical University 2 3 0 0 0 0 5
MVZ Medizinische Genetik Mainz 0 3 2 0 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 3 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 1 2 0 0 0 4
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 3 0 0 0 4
Undiagnosed Diseases Network, NIH 3 1 0 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 0 4
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 1 3 0 0 0 0 4
Molecular Genetics Lab, CHRU Brest 2 0 2 0 0 0 4
Pediatric Department, Xiangya Hospital, Central South University 4 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 4 4
Institute of Human Genetics, University of Goettingen 0 2 1 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 1 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 1 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 0 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 3 0 0 0 3
National Health Commission Key Laboratory of Birth Defects Research, Maternal and Child Health Hospital of Hunan 0 2 1 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 1 0 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 0 1 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 1 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 1 0 0 0 2
Fondazione Telethon, Telethon Institute of Genetics and Medicine 2 0 0 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 0 0 0 2
Pediatrics, MediClubGeorgia 1 1 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 1 0 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 1
GeneReviews 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 1 1
Blueprint Genetics 0 1 0 0 0 0 1
ITMI 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center, Boston Children's Hospital 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 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
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 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
Kids Research, The Children's Hospital at Westmead 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Wu Jinyu Laboratory, Institute of Genomic Medicine, Wenzhou Medical University 1 0 0 0 0 0 1
Poduri Lab, Boston Children's Hospital 0 0 1 0 0 0 1
Genetics Laboratory - UDIAT Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies 0 0 0 0 0 1 1
Molecular Medicine, University of Pavia 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
Genomic Medicine, Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DASA 1 0 0 0 0 0 1
Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 1
Key Laboratory of Neurobehavioral Science for Children, Children's Hospital Affiliated of Zhengzhou University 0 0 1 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
Payam Genetics Center, General Welfare Department of North Khorasan Province 1 0 0 0 0 0 1
Medical Genetic Diagnosis and Therapy Center, Fujian Medical University 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.