ClinVar Miner

Variants in gene ARX

See also:
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 total
44 10 78 55 11 182

Condition and significance breakdown #

Total conditions: 14
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 11 4 33 5 1 54
not specified 0 0 9 36 7 51
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked 0 0 29 14 7 50
Lissencephaly 2, X-linked 21 2 0 0 0 23
History of neurodevelopmental disorder 0 0 3 7 3 13
Epileptic encephalopathy, early infantile, 1 6 2 1 0 0 9
epileptic encephalopathy, early infanitle, 1 3 0 6 0 0 9
Inborn genetic diseases 1 0 5 1 0 7
Mental retardation, with or without seizures, ARX-related, X-linked 3 1 0 1 0 5
Epileptic encephalopathy, early infantile, 1; Mental retardation, with or without seizures, ARX-related, X-linked; Proud Levine Carpenter syndrome; Lissencephaly 2, X-linked; Partington X-linked mental retardation syndrome 0 0 2 0 0 2
Hydranencephaly with abnormal genitalia 2 0 0 0 0 2
See cases 0 0 0 2 0 2
Generalized hypotonia 0 1 0 0 0 1
Proud Levine Carpenter syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 3 3 17 33 6 62
Invitae 0 0 29 14 6 49
Genetic Services Laboratory, University of Chicago 21 2 11 9 4 47
OMIM 20 0 0 0 0 20
Ambry Genetics 1 0 8 7 3 19
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 5 0 11 0 2 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 3 1 0 5
Athena Diagnostics Inc 0 0 0 0 3 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 1 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1 0 2
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
ISCA site 6 0 0 0 2 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 2 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 2
PreventionGenetics 0 0 0 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 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.