ClinVar Miner

Variants in gene USH2A

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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 not provided total
647 513 1446 979 239 11 3215

Condition and significance breakdown #

Total conditions: 33
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 473 137 875 809 168 10 2346
Usher syndrome, type 2A 112 51 322 65 92 0 605
not specified 3 0 180 244 160 1 544
Usher syndrome, type 2A; Retinitis pigmentosa 39 57 154 230 31 0 0 469
Retinal dystrophy 118 104 155 0 0 0 374
Retinitis pigmentosa 57 82 144 9 15 0 295
Retinitis pigmentosa 39 50 61 54 0 1 0 160
Rare genetic deafness 71 23 0 0 0 0 94
Usher syndrome 24 30 23 8 5 0 85
none provided 0 1 6 3 42 0 52
Usher syndrome type 2 39 4 0 0 0 0 43
Hearing impairment 2 3 12 1 0 0 17
Inborn genetic diseases 5 2 4 0 0 0 11
USH2A-Related Disorders 6 2 2 0 0 0 9
Leber congenital amaurosis 0 1 7 0 0 0 8
Cone-rod dystrophy 4 1 2 0 0 0 7
Retinitis Pigmentosa, Recessive 0 0 6 1 0 0 7
Retinitis pigmentosa-deafness syndrome 0 0 6 1 0 0 7
Autosomal recessive retinitis pigmentosa 6 0 0 0 0 0 6
Usher syndrome; Rare genetic deafness 5 1 0 0 0 0 6
See cases 0 0 2 1 0 0 3
Congenital sensorineural hearing impairment 1 1 0 0 0 0 2
Congenital stationary night blindness 1 0 1 0 0 0 2
Joubert syndrome; Congenital cerebellar hypoplasia; Motor delay; Delayed speech and language development; Amblyopia; Hypoplasia of the brainstem; Congenital sensorineural hearing impairment; Cerebellar hemisphere hypoplasia 0 0 2 0 0 0 2
Nonsyndromic hearing loss and deafness 2 0 0 0 0 0 2
Progressive cone dystrophy (without rod involvement) 0 0 2 0 0 0 2
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal morphology of bones of the upper limbs 1 0 1 0 0 0 2
Usher syndrome type 1 0 2 0 0 0 0 2
Autosomal recessive nonsyndromic deafness 0 1 0 0 0 0 1
Blindness; Rod-cone dystrophy; Pigmentary retinopathy; Abnormal macular morphology; Retinal pigment epithelial atrophy 1 0 0 0 0 0 1
Deafness 1 0 0 0 0 0 1
Macular dystrophy 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 419 88 656 777 122 0 2062
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 88 28 165 196 150 1 628
Counsyl 77 172 224 31 0 0 504
Natera, Inc. 37 6 199 51 72 0 365
Blueprint Genetics 117 96 140 0 0 0 353
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 41 4 148 18 57 0 268
GeneDx 57 22 24 64 78 0 245
CeGaT Praxis fuer Humangenetik Tuebingen 46 19 84 19 0 0 168
Illumina Clinical Services Laboratory,Illumina 4 0 120 14 23 0 148
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 1 26 10 57 0 97
Ocular Genomics Institute, Massachusetts Eye and Ear 19 39 36 0 1 0 95
NIHR Bioresource Rare Diseases, University of Cambridge 11 48 28 2 0 0 89
Molecular Genetics Laboratory,Institute for Ophthalmic Research 54 0 0 0 0 0 54
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 12 21 16 0 0 0 49
Sharon lab,Hadassah-Hebrew University Medical Center 21 26 0 0 0 0 47
Mendelics 14 9 3 1 19 0 46
Athena Diagnostics Inc 1 0 7 6 31 0 45
ClinGen Hearing Loss Variant Curation Expert Panel 8 10 14 7 6 0 45
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 17 10 13 0 0 0 38
PreventionGenetics, PreventionGenetics 0 0 0 3 30 0 33
Human Genetics - Radboudumc,Radboudumc 12 5 12 0 0 0 29
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 21 8 0 0 0 0 29
Centre for Mendelian Genomics,University Medical Centre Ljubljana 8 5 13 1 0 0 27
Baylor Genetics 12 3 10 0 0 0 25
Fulgent Genetics,Fulgent Genetics 10 1 13 0 0 0 24
Department of Ophthalmology and Visual Sciences Kyoto University 7 11 0 2 0 0 20
OMIM 15 0 0 0 0 0 15
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 2 11 1 0 0 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 7 4 1 0 0 0 12
Ambry Genetics 5 2 4 0 0 0 11
Integrated Genetics/Laboratory Corporation of America 6 2 2 0 0 0 10
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 10 10
National Institute on Deafness and Communication Disorders,National Institutes of Health 6 0 2 0 0 0 8
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 6 0 0 0 7
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 5 0 6
Knight Diagnostic Laboratories, Oregon Health and Sciences University 4 1 1 0 0 0 6
Faculty of Health Sciences,Beirut Arab University 6 0 0 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 4 0 0 0 5
GeneReviews 3 2 0 0 0 0 5
INSERM U1051, Institut des Neurosciences de Montpellier 1 3 1 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 5 0 0 0 5
Broad Institute Rare Disease Group, Broad Institute 3 1 1 0 0 0 5
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 2 3 0 0 0 0 5
Myriad Women's Health, Inc. 2 3 0 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 4
Cytogenetics and Genomics Laboratory,Medical University of South Carolina 0 0 4 0 0 0 4
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 3 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 3 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 0 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 2 1 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 2 0 3
Center for Statistical Genetics, Columbia University 2 0 1 0 0 0 3
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 1 1 0 0 0 3
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 1 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 0 3
GeneID Lab - Advanced Molecular Diagnostics 0 3 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Pars Genome Lab 0 0 1 2 0 0 3
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Lineagen, Inc 2 0 0 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 2 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 1 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 2 0 0 0 0 0 2
Nilou-Genome Lab 0 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 1 0 0 0 0 0 1
FirmaLab,FirmaLab 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 1 0 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Servicio Extremeño de Salud,Hospital de Mérida 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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