ClinVar Miner

Variants in gene GLI2

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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
29 14 163 131 81 367

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Holoprosencephaly 9 9 1 61 41 43 149
not provided 5 3 51 48 20 121
Holoprosencephaly 9; Culler-Jones syndrome 4 1 19 28 33 85
not specified 0 0 8 34 38 72
Holoprosencephaly sequence 0 0 15 1 0 16
Culler-Jones syndrome 6 2 6 0 0 14
none provided 1 0 1 1 8 11
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
Holoprosencephaly 1 0 0 1 0 1 2
Microcephaly 0 0 2 0 0 2
Abnormality of esophagus morphology 0 0 0 1 0 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 1
Cerebellar cyst 1 0 0 0 0 1
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 0 0 1 0 0 1
GLI2-related disorders 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
Hypertelorism; Congenital cleft nose; Low-set ears; Facial cleft; Facial asymmetry; Upper eyelid coloboma; Epibulbar dermoid; Lipoma of corpus callosum; Skin tags; Abnormality of the frontal bone 0 0 1 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 1
Seizures 0 0 1 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 1
White-sutton syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 75 41 41 157
Invitae 4 1 17 67 44 133
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 35 4 23 64
PreventionGenetics, PreventionGenetics 0 0 0 23 19 42
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 5 2 11 19
GeneDx 1 3 9 4 0 17
OMIM 11 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 6 3 0 10
Cincinnati Children's Hospital Medical Center 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 2 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 1 1 6
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 0 0 5
Baylor Genetics 2 1 1 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 2 2 0 4
Mendelics 0 0 1 0 1 2
ISCA site 1 0 1 1 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Integrated Genetics/Laboratory Corporation of America 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 1
Human Developmental Genetics,Institut Pasteur 0 0 1 0 0 1

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