ClinVar Miner

Variants in gene GLI2

Minimum submission review status: Collection method:
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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 total
22 10 124 60 47 235

Condition and significance breakdown #

Total conditions: 14
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Holoprosencephaly sequence 0 0 62 35 5 102
not specified 0 0 7 32 37 68
not provided 4 1 43 5 12 65
Holoprosencephaly 9; Culler-Jones syndrome 2 1 10 1 10 24
Holoprosencephaly 9 9 1 0 0 1 10
Culler-Jones syndrome 5 0 1 0 0 6
Inborn genetic diseases 3 1 2 0 0 6
microform holoprosencephaly 0 5 1 0 0 6
See cases 0 1 3 0 0 4
Abnormality of esophagus morphology 0 0 0 1 0 1
Anophthalmia - microphthalmia 0 0 0 1 0 1
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 0 0 1 0 0 1
Growth delay; Hypoplasia of the corpus callosum; Abnormal facial shape; Abnormality of the pinna; Microcephaly; Sparse and thin eyebrow; Abnormality of the optic nerve; Sparse scalp hair; Downturned corners of mouth; CNS hypomyelination; Postnatal microcephaly 0 0 0 1 0 1
Hyperactivity; Seizures; Deeply set eye; Intellectual disability; Poor speech; Postnatal microcephaly; Exostoses 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 62 35 5 102
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 35 4 23 64
PreventionGenetics 0 0 0 23 19 42
Invitae 2 1 9 1 10 23
GeneDx 1 1 9 4 0 15
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 1 8 12
OMIM 11 0 0 0 0 11
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 7 7
Ambry Genetics 3 1 2 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 4 2 6
Laboratory of Molecular Genetics,CHU RENNES 0 5 1 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 3 1 0 4
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 3
ISCA site 1 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 1 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 1 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1

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