ClinVar Miner

Variants studied for West syndrome

Included ClinVar conditions (20):
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
331 112 1672 813 272 3 3144

Gene and significance breakdown #

Total genes and gene combinations: 44
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKL5 191 54 113 50 26 1 418
PLCB1 6 2 287 112 29 0 412
GRIN2B 14 13 162 153 53 0 391
SIK1 5 0 174 147 55 0 375
PNKP 26 4 217 82 23 0 352
WWOX 27 8 193 54 21 0 302
TBC1D24 14 7 163 76 16 0 276
PIK3AP1 0 0 92 46 18 0 156
ARX 13 7 83 42 10 0 154
SPTAN1 7 8 52 5 2 0 74
MAF, WWOX 1 0 52 12 6 0 71
ARX, LOC109610631 8 0 22 21 4 1 54
CDKL5, RS1 6 0 28 12 9 0 52
ST3GAL3 3 0 7 0 0 0 10
KCNQ2 4 1 0 0 0 0 5
GUF1 2 0 2 0 0 0 4
CACNA1A 0 0 3 0 0 0 3
LOC112486209, WWOX 0 2 1 0 0 0 3
SYNJ1 0 1 2 0 0 0 3
APOLD1, CDKN1B, DDX47, EMP1, FAM234B, GPRC5A, GPRC5D, GRIN2B, GSG1, HEBP1 1 0 1 0 0 0 2
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 1 0 0 0 2
LOC102724058, SCN1A 0 0 1 0 0 1 2
LOC110120570, LOC112486209, WWOX 0 0 2 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
AGPAT3, CBS, CRYAA, CSTB, GATD3A, HSF2BP, NDUFV3, PDE9A, PDXK, PKNOX1, PWP2, RRP1, RRP1B, RSPH1, SIK1, SLC37A1, TRAPPC10, U2AF1, WDR4 0 0 1 0 0 0 1
AGPAT3, CSTB, GATD3A, HSF2BP, PDXK, PWP2, RRP1, RRP1B, SIK1, TRAPPC10 1 0 0 0 0 0 1
ALG13 0 0 1 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 1
CCNF, TBC1D24 0 0 1 1 0 0 1
CSNK1E, TPTEP2-CSNK1E 1 0 0 0 0 0 1
CSTB, HSF2BP, PDXK, RRP1B, SIK1 0 0 1 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
KCNA2 0 1 0 0 0 0 1
NAPB 0 0 1 0 0 0 1
NRXN2 0 0 1 0 0 0 1
PLCB1, RNU105B 0 0 1 0 0 0 1
SCN1A 0 1 0 0 0 0 1
SCN2A 0 1 0 0 0 0 1
SLC35A2 0 0 1 0 0 0 1
STXBP1 0 1 0 0 0 0 1
SZT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 163 38 1459 790 258 0 2708
Illumina Clinical Services Laboratory,Illumina 0 0 91 7 6 0 104
RettBASE 75 8 4 0 0 0 87
Genetic Services Laboratory, University of Chicago 23 5 27 0 0 0 55
Institute of Human Genetics, University of Leipzig Medical Center 9 7 20 2 1 0 39
OMIM 38 0 0 0 0 0 38
Baylor Genetics 3 2 28 0 0 0 33
Mendelics 13 7 2 3 6 0 31
Fulgent Genetics,Fulgent Genetics 1 0 21 1 0 0 23
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 2 14 2 0 0 20
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 8 4 1 3 0 0 16
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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 7 0 0 0 9
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
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 3 3 0 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 1 0 0 0 5
New York Genome Center 0 0 3 1 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 0 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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
Clinical Genetics laboratory, University of Goettingen 0 2 0 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 1 0 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
Undiagnosed Diseases Network,NIH 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 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
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 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
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
DNA and Cytogenetics Diagnostics Unit,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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 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
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
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 1 0 0 0 1
Genomic Medicine,Universita Cattolica del Sacro Cuore 1 0 0 0 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 0 1

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