ClinVar Miner

Variants studied for West syndrome

Included ClinVar conditions (18):
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
175 45 485 229 188 1 1107

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CDKL5 123 29 32 12 16 0 203
GRIN2B 6 3 56 40 25 0 128
PNKP 3 0 67 29 20 0 119
WWOX 7 2 66 20 20 0 115
PLCB1 1 1 53 27 24 0 104
TBC1D24 5 1 46 31 16 0 98
SIK1 5 0 36 23 28 0 92
PIK3AP1 0 0 28 11 18 0 57
ARX 6 2 20 14 7 0 49
MAF, WWOX 0 0 23 8 6 0 37
SPTAN1 5 2 28 2 0 0 37
ARX, LOC109610631 5 0 7 7 2 0 21
CDKL5, RS1 4 0 6 5 6 0 19
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
ALG13 0 0 1 0 0 0 1
BEND2, CDKL5, NHS, RAI2, RS1, SCML1, SCML2 1 0 0 0 0 0 1
CACNA1A 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
LOC110120570, LOC112486209, WWOX 0 0 1 0 0 0 1
NRXN2 0 0 1 0 0 0 1
PLCB1, RNU105B 0 0 1 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: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 7 413 219 182 0 861
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
Fulgent Genetics 1 0 21 1 0 0 23
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 11 1 0 0 15
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 0 4 1 1 1 0 7
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 5 0 7
Baylor Miraca Genetics Laboratories, 1 0 5 0 0 0 6
HudsonAlpha Institute for Biotechnology 2 2 1 0 0 0 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 1 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 1 0 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
Mendelics 2 0 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 2 0 0 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 1 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 0 1
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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 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

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