ClinVar Miner

Variants studied for West syndrome

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
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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
647 257 3122 3129 695 17 7712

Gene and significance breakdown #

Total genes and gene combinations: 81
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRIN2B 46 32 344 517 159 0 1082
SIK1 5 2 416 417 83 0 908
CDKL5 287 100 214 243 74 1 880
PNKP 66 16 351 410 36 0 879
PLCB1 13 12 425 416 49 0 878
TBC1D24 58 14 322 235 21 0 650
WWOX 47 11 298 250 45 0 649
ARX 32 13 178 265 20 0 505
PIK3AP1 0 0 201 159 32 0 392
SPTAN1 16 32 128 52 126 1 327
MAF, WWOX 5 0 81 51 7 0 144
CDKL5, RS1 7 1 55 46 23 1 126
ARX, LOC109610631 13 3 44 61 9 1 125
SCN2A 13 4 0 0 0 2 19
ST3GAL3 5 1 10 0 3 0 19
GUF1 1 1 4 0 6 0 12
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
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
CACNA1A 0 0 3 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
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
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
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
ADGRG2, BCLAF3, BEND2, CDKL5, EIF1AX, MAP3K15, MAP7D2, NHS, PDHA1, PHKA2, PPEF1, RAI2, RPS6KA3, RS1, SCML1, SCML2, SH3KBP1 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
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
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
DNM1 0 0 0 0 0 1 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
LOC132090432, LOC132090433, LOC132090434, WWOX 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
STXBP1 1 0 0 0 0 0 1
SZT2 0 0 1 0 0 0 1
UGDH 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 104
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 428 103 2758 3049 545 0 6883
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 25 22 3 1 0 69
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
Mendelics 24 7 2 3 6 0 42
Baylor Genetics 2 6 33 0 0 0 41
Neuberg Centre For Genomic Medicine, NCGM 1 4 25 0 0 0 30
Revvity Omics, Revvity 3 1 22 0 0 0 26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 2 16 4 0 0 23
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
Génétique des Maladies du Développement, Hospices Civils de Lyon 9 4 1 3 0 0 17
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 7 7 3 0 0 0 17
3billion 1 7 8 0 0 0 16
Neurology Department, Shenzhen Children's Hospital 12 0 0 0 0 0 12
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 1 3 2 0 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 2 5 2 0 0 10
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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 4 2 0 0 0 6
Department of Neurology, Children’s Hospital of Chongqing Medical University 2 3 0 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
Department of Laboratory Medicine, 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 4 4
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 3 1 0 0 0 4
Institute of Human Genetics, University of Goettingen 0 2 1 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 Inc 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
Service de Génétique Moléculaire, Hôpital Robert Debré 1 1 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
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 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
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Dobyns Lab, Seattle Children's Research Institute 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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 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
HSP Biomedical Diagnostics Department, Hospital San Pedro 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
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
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

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