ClinVar Miner

Variants in gene GLI3

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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 risk factor not provided total
93 12 194 170 131 1 1 540

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Greig cephalopolysyndactyly syndrome 15 1 85 33 95 0 0 226
Polydactyly 0 0 84 27 94 0 0 205
Pallister-Hall syndrome 31 0 47 31 94 0 0 203
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 28 3 53 52 35 0 0 171
not provided 16 6 45 63 19 0 1 144
not specified 0 0 8 53 35 0 0 88
none provided 0 0 0 0 5 0 0 5
Inborn genetic diseases 2 0 2 0 0 0 0 4
Postaxial polydactyly type A1 3 1 0 0 0 0 0 4
Postaxial polydactyly, type A1/B 3 0 1 0 0 0 0 4
Greig cephalopolysyndactyly syndrome; Hamartoma of hypothalamus; Pallister-Hall syndrome; Preaxial polydactyly 4; Postaxial polydactyly type A1 0 0 3 0 0 0 0 3
GLI3-Related Disorders 0 0 2 0 0 0 0 2
Preaxial polydactyly 4 2 0 0 0 0 0 0 2
See cases 0 0 0 1 1 0 0 2
Congenital diaphragmatic hernia 0 0 0 0 0 1 0 1
Cronkhite-Canada syndrome 0 0 1 0 0 0 0 1
GLI3-related postaxial polydactyly 0 0 1 0 0 0 0 1
Global developmental delay; Macrocephalus; Functional motor deficit; Generalized dystonia 0 0 1 0 0 0 0 1
Greig cephalopolysyndactyly syndrome, severe 1 0 0 0 0 0 0 1
Hirschsprung disease 1 0 1 0 0 0 0 0 1
Hyperreflexia; Ptosis; Postaxial hand polydactyly; Umbilical hernia; Babinski sign; Polysyndactyly of hallux; Basilar invagination; Short palpebral fissure 0 1 0 0 0 0 0 1
Postaxial polydactyly B 1 0 0 0 0 0 0 1
White-sutton syndrome 0 0 1 0 0 0 0 1
polysyndactyly 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 28 3 53 97 40 0 0 221
Illumina Clinical Services Laboratory,Illumina 0 0 86 31 94 0 0 207
GeneDx 10 3 12 23 24 0 0 72
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 27 8 12 0 0 48
PreventionGenetics, PreventionGenetics 0 0 0 23 23 0 0 46
GeneReviews 30 0 0 0 0 0 0 30
OMIM 21 0 1 0 0 0 0 22
Genetic Services Laboratory, University of Chicago 1 0 6 7 1 0 0 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 7 2 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 3 1 3 3 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 6 0 0 7
Mendelics 0 1 0 3 1 0 0 5
Ambry Genetics 2 0 2 0 0 0 0 4
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 4 0 0 0 4
Ali Lab, Centre for Genetic Disorders,Banaras Hindu University 4 0 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 1 0 0 0 0 2
ISCA site 6 0 0 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 1 1 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 0 0 1
Inserm U 954, Faculté de Médecine de Nancy 0 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 1 0 1
Department of Animal Sciences,Quaid-i-Azam University 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1

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