ClinVar Miner

Variants studied for West syndrome

Included ClinVar conditions (19):
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
205 63 658 92 38 2 1046

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKL5 136 35 46 11 4 0 224
WWOX 11 3 87 11 4 0 115
PNKP 7 0 94 11 1 0 113
GRIN2B 7 6 75 14 2 0 102
TBC1D24 6 2 71 9 2 0 90
PLCB1 2 2 69 7 8 0 87
SIK1 5 0 56 10 6 0 77
ARX 8 5 28 6 2 0 49
PIK3AP1 0 0 37 3 3 0 43
SPTAN1 5 4 31 2 1 0 43
MAF, WWOX 1 0 27 2 1 0 31
ARX, LOC109610631 7 0 10 2 1 1 21
CDKL5, RS1 5 0 6 4 3 0 18
ST3GAL3 1 0 5 0 0 0 6
LOC112486209, WWOX 0 2 1 0 0 0 3
SYNJ1 0 1 2 0 0 0 3
CACNA1A 0 0 2 0 0 0 2
LOC110120570, LOC112486209, WWOX 0 0 2 0 0 0 2
ALG13 0 0 1 0 0 0 1
ARX, LOC110120595, LOC110120597, POLA1 0 0 1 0 0 0 1
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 0 0 0 0 1
CCNF, TBC1D24 0 0 1 0 0 0 1
CSNK1E, TPTEP2-CSNK1E 1 0 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
GUF1 1 0 0 0 0 0 1
KCNQ2 1 0 0 0 0 0 1
LOC102724058, SCN1A 0 0 0 0 0 1 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
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: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 57 10 578 79 24 0 747
RettBASE 75 8 4 0 0 0 87
Genetic Services Laboratory, University of Chicago 23 5 27 0 0 0 55
OMIM 37 0 0 0 0 0 37
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 13 1 0 0 18
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 5 6 0 11
Génétique des Maladies du Développement, Hospices Civils de Lyon 6 3 1 0 0 0 10
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 0 4 1 1 1 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 5 0 7
Baylor Genetics 1 0 5 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 2 1 0 0 0 5
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
Institute of Human Genetics,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
Dobyns Lab,Seattle Children's Research Institute 1 1 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
GeneReviews 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 1
ITMI 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 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 0 0 0 0 0 1 1

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