ClinVar Miner

Variants in gene PAX6

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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
227 45 61 25 14 2 344

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Aniridia 1 158 31 7 5 6 0 205
not provided 44 10 17 6 2 1 77
Aniridia 1; Irido-corneo-trabecular dysgenesis 47 2 14 8 3 0 74
Foveal hypoplasia and presenile cataract syndrome 2 2 14 4 8 0 30
Anophthalmia-microphthalmia syndrome 1 0 21 3 1 0 26
Keratitis, hereditary 0 0 15 4 7 0 26
carboxymethyl-dextran-A2-gadolinium-DOTA 0 0 14 5 6 0 25
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 0 0 5 4 8 0 17
Aniridia, Cerebellar Ataxia, And Intellectual Disability 0 0 4 7 1 0 12
not specified 0 0 1 5 5 0 11
Congenital aniridia 2 0 4 1 0 1 8
Irido-corneo-trabecular dysgenesis 3 0 1 0 0 0 4
Coloboma of optic nerve (disease) 2 0 1 0 0 0 3
Congenital cataract 1 1 0 0 0 0 2
Optic nerve hypoplasia, bilateral 1 1 0 0 0 0 2
ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES 1 0 0 0 0 0 1
ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE 1 0 0 0 0 0 1
Aniridia 1; Foveal hypoplasia and presenile cataract syndrome; Coloboma of optic nerve (disease); Keratitis, hereditary; Optic nerve hypoplasia, bilateral; Irido-corneo-trabecular dysgenesis; Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome; Congenital ocular coloboma 1 0 0 0 0 0 1
Aniridia, atypical 1 0 0 0 0 0 1
Anophthalmia 0 0 1 0 0 0 1
Anterior segment dysgenesis 0 1 0 0 0 0 1
Cataracts, congenital, with late-onset corneal dystrophy 1 0 0 0 0 0 1
Coloboma, ocular, autosomal dominant 0 0 1 0 0 0 1
Congenital cataract; Microphthalmia 1 0 0 0 0 0 1
Congenital ocular coloboma 1 0 0 0 0 0 1
Foveal hypoplasia 1 with cataract 1 0 0 0 0 0 1
Foveal hypoplasia 1 with or without anterior segment anomalies 1 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Keratitis, autosomal dominant 1 0 0 0 0 0 1
Optic nerve aplasia, bilateral 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wessex Regional Genetics Laboratory,Salisbury District Hospital 103 26 2 0 0 0 131
Invitae 47 2 14 12 3 0 78
GeneDx 34 4 2 5 4 0 49
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 39 6 2 0 0 0 47
Illumina Clinical Services Laboratory,Illumina 0 0 22 9 8 0 26
OMIM 25 0 0 0 0 0 25
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 7 2 8 0 2 0 19
CeGaT Praxis fuer Humangenetik Tuebingen 4 2 7 0 0 0 13
Molecular Pathology, SA Pathology 9 0 0 0 0 0 9
Genetics Department,University Hospital of Toulouse 6 1 2 0 0 0 9
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 4 0 0 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 1 2 0 3
Eye Genetics Research Group,Children's Medical Research Institute 2 2 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
EVA,EMBL-EBI 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 0 1
Kasturba Medical College, Manipal University 0 0 1 0 0 0 1
Department of Genetics,Fundacion Jimenez Diaz University Hospital 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 1
Fundació de Recerca de l'Institut de Microcirurgia Ocular 1 0 0 0 0 0 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1

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