ClinVar Miner

Variants in gene RAB3GAP2

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 not provided total
14 8 169 78 33 1 277

Condition and significance breakdown #

Total conditions: 13
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cataract-intellectual disability-hypogonadism syndrome 3 4 104 20 16 0 146
Warburg micro syndrome 2 5 1 84 18 15 0 123
Cataract-intellectual disability-hypogonadism syndrome; Warburg micro syndrome 2 1 0 34 22 11 1 68
not provided 5 1 22 21 8 0 57
not specified 0 0 18 30 10 0 50
Warburg micro syndrome 0 0 19 2 2 0 23
Microcephaly 0 0 2 0 0 0 2
Global developmental delay; Microcephaly 0 0 1 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Neurodevelopmental delay 0 1 0 0 0 0 1
RAB3GAP2-Related Disorders 0 0 1 0 0 0 1
See cases 0 0 0 1 0 0 1
Tracheoesophageal fistula 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 104 20 16 0 140
Invitae 0 0 33 36 11 0 80
GeneDx 2 1 11 26 14 0 54
Genetic Services Laboratory, University of Chicago 1 0 20 9 2 0 32
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 5 3 0 0 8
OMIM 6 0 0 0 0 0 6
Baylor Genetics 2 0 1 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 1 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 2 0 0 0 2
Reproductive Endocrine Unit, Massachusetts General Hospital 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Lineagen, Inc 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
ISCA site 6 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 0 0 1 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Shen Lab,Columbia University Medical Center 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 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.