ClinVar Miner

Variants in gene GLI3

Minimum submission review status: Collection method:
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Gene type:
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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
67 8 126 120 53 1 1 331

Condition and significance breakdown #

Total conditions: 18
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Pallister-Hall syndrome 30 0 59 71 15 0 0 175
Greig cephalopolysyndactyly syndrome 12 0 60 72 15 0 0 159
Polydactyly 0 0 59 71 15 0 0 145
not specified 0 0 8 53 35 0 0 88
not provided 11 5 40 10 4 0 1 71
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 9 1 15 12 23 0 0 60
Postaxial polydactyly 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 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
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
Postaxial polydactyly B 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 61 72 15 0 0 148
Invitae 9 1 15 12 23 0 0 60
GeneDx 9 3 12 21 12 0 0 57
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 27 8 12 0 0 48
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 8 0 0 0 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 7 2 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 4 0 0 5
Fulgent Genetics 0 0 3 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 1 1 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 0 2
Ali Lab, Centre for Genetic Disorders,Banaras Hindu University 2 0 0 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 1 1 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 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
HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 1 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

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