ClinVar Miner

Variants studied for severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
40 22 31 9 5 103

Gene and significance breakdown #

Total genes and gene combinations: 3
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GATAD2B 39 21 31 9 5 101
C1orf43, CFAP141, CREB3L4, CRTC2, DENND4B, GATAD2B, INTS3, JTB, NUP210L, RAB13, RPS27, SLC27A3, SLC39A1, TPM3, UBAP2L 1 0 0 0 0 1
CREB3L4, CRTC2, DENND4B, GATAD2B, JTB, JTB-DT, LOC122128431, LOC122128432, LOC122128433, LOC126805871, LOC126805872, LOC129931485, LOC129931486, LOC129931487, LOC129931488, LOC129931489, LOC129931490, LOC129931491, LOC129931492, LOC129931493, LOC129931494, LOC129931495, LOC129931496, MIR6737, NUP210L, RAB13, RPS27, SLC39A1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 7 5 14 8 4 38
OMIM 10 0 0 0 0 10
Baylor Genetics 3 1 4 0 0 8
Revvity Omics, Revvity 0 1 6 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 3 0 0 0 4
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 3
Mendelics 2 1 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 1 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 1 0 0 0 2
New York Genome Center 0 0 2 0 0 2
3billion 1 1 0 0 0 2
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 1 0 0 0 1
KK Women’s and Children’s Hospital 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 1 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 1
Molecular Genetics Laboratory, Motol Hospital 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 0 1 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 0 1 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.