ClinVar Miner

Variants in gene VPS13B

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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
118 292 425 166 73 6 909

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Cohen syndrome 55 274 247 84 53 4 640
not provided 66 15 147 19 15 2 260
not specified 0 0 74 55 38 0 142
History of neurodevelopmental disorder 1 0 53 52 29 0 135
Inborn genetic diseases 5 1 3 0 0 0 9
See cases 0 0 3 3 2 0 8
Abnormality of the eye 0 0 3 0 0 0 3
Abnormality of brain morphology 0 2 0 0 0 0 2
Retinal dystrophy 0 2 0 0 0 0 2
Schizophrenia 0 2 0 0 0 0 2
Short stature; Retinal dystrophy; Microcephaly; Progressive visual loss; Intellectual disability; Short foot; Neutropenia; Recurrent aphthous stomatitis; Small hand 2 0 0 0 0 0 2
Abnormality of neuronal migration 1 0 0 0 0 0 1
Global developmental delay; Unsteady gait; Microcephaly; Carious teeth; Intellectual disability; Generalized joint laxity; Attention deficit hyperactivity disorder; Muscular hypotonia 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Counsyl 5 200 59 20 0 0 284
Invitae 20 1 68 32 42 0 163
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 7 0 110 4 29 0 150
Illumina Clinical Services Laboratory,Illumina 0 0 113 27 4 0 144
Ambry Genetics 6 1 55 52 29 0 143
Genetic Services Laboratory, University of Chicago 6 0 69 34 6 0 115
GeneDx 43 11 12 10 3 0 79
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 77 0 0 0 0 77
Athena Diagnostics Inc 1 1 22 9 10 0 43
PreventionGenetics 0 0 0 15 12 0 27
Fulgent Genetics 4 2 19 1 0 0 26
SNPedia 21 0 0 0 0 2 23
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 19 1 0 0 23
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 4 12 3 0 19
OMIM 16 0 0 0 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 14 0 15
Integrated Genetics/Laboratory Corporation of America 4 7 0 0 3 0 14
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 10 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 13 0 0 0 13
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 6 0 0 0 0 8
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 6 0 6
ISCA site 6 0 0 0 3 2 0 5
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 1 2 2 0 0 0 5
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 2 1 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 3 0 4
Baylor Miraca Genetics Laboratories, 2 0 1 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
NIHR Bioresource Rare Diseases,University of Cambridge 0 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 2 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 2 0 0 0 2
Department of Psychiatry,Nagoya University 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 2 0 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
ISCA site 4 0 0 1 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 1

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