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 not provided total
46 26 504 337 135 1 947

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 11 3 199 192 64 0 466
not provided 8 7 151 80 82 0 308
Holoprosencephaly 9 11 4 67 41 48 0 165
GLI2-related condition 2 1 36 91 16 0 146
not specified 0 0 24 33 42 0 92
Inborn genetic diseases 4 2 66 18 0 0 90
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 11 4 12 1 9 0 37
Holoprosencephaly sequence 0 0 15 1 0 0 16
Microform holoprosencephaly 0 5 1 0 0 0 6
See cases 0 0 3 1 0 1 5
Holoprosencephaly 1 0 0 0 0 2 0 2
Microcephaly 0 0 2 0 0 0 2
Pituitary stalk interruption syndrome 0 0 2 0 0 0 2
Abnormal esophagus morphology 0 0 0 1 0 0 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Bardet-Biedl syndrome 0 0 1 0 0 0 1
Cerebellar cyst 1 0 0 0 0 0 1
Cerebral arteriovenous malformation; Tremor; Hand tremor; Arteriovenous malformation 0 0 1 0 0 0 1
Craniosynostosis syndrome 0 1 0 0 0 0 1
Developmental disorder 1 0 0 0 0 0 1
Disorder of sexual differentiation 0 0 1 0 0 0 1
GLI2-related disorders 0 0 1 0 0 0 1
Growth delay; Hypoplasia of the corpus callosum; Abnormal facial shape; Abnormal pinna morphology; Microcephaly; Sparse and thin eyebrow; Abnormal optic nerve morphology; Sparse scalp hair; Downturned corners of mouth; CNS hypomyelination; Secondary microcephaly 0 0 0 1 0 0 1
Hyperactivity; Seizure; Deeply set eye; Intellectual disability; Poor speech; Secondary microcephaly; Exostoses 0 0 1 0 0 0 1
Hypertelorism; Congenital cleft nose; Low-set ears; Tessier cleft; Facial asymmetry; Upper eyelid coloboma; Limbal dermoid; Pericallosal lipoma; Skin tags; Abnormal frontal bone morphology 0 0 1 0 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 0 0 1
Seizure 0 0 1 0 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 11 2 191 203 65 0 472
PreventionGenetics, part of Exact Sciences 2 1 36 110 35 0 184
GeneDx 2 4 84 25 64 0 179
Illumina Laboratory Services, Illumina 0 0 75 41 41 0 157
Ambry Genetics 4 2 66 18 0 0 90
Eurofins Ntd Llc (ga) 2 0 35 4 23 0 64
CeGaT Center for Human Genetics Tuebingen 2 2 14 27 13 0 58
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 6 2 14 0 23
Clinical Genetics, Academic Medical Center 0 0 0 7 13 0 20
Revvity Omics, Revvity 1 1 15 0 0 0 17
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 13 3 1 0 17
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 2 11 2 0 15
OMIM 11 0 0 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 1 4 3 2 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 6 0 10
New York Genome Center 0 0 9 0 0 0 9
Genome-Nilou Lab 0 0 0 0 9 0 9
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 6 0 0 8
Baylor Genetics 4 1 2 0 0 0 7
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 7 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 4 2 0 6
Laboratory of Molecular Genetics, CHU Rennes 0 5 1 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 5 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 2 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 2 1 3 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 1 1 0 6
Genetic Services Laboratory, University of Chicago 0 0 2 3 0 0 5
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 2 1 0 0 4
Mendelics 1 0 0 0 2 0 3
Human Developmental Genetics, Institut Pasteur 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 0 1 0 0 1
3billion 0 1 0 0 0 0 1
DECIPHER, Wellcome Sanger Institute 0 0 0 0 0 1 1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University 0 0 1 0 0 0 1

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