ClinVar Miner

Variants in gene USH2A

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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
1398 1009 2826 3559 460 20 8155

Condition and significance breakdown #

Total conditions: 44
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 1215 307 2151 3435 430 10 7212
Usher syndrome type 2A 250 290 904 261 168 0 1738
Retinitis pigmentosa 39 298 469 506 163 79 0 1389
Retinal dystrophy 141 131 272 53 42 0 627
not specified 3 0 262 238 163 1 621
Usher syndrome type 2A; Retinitis pigmentosa 39 77 163 268 55 8 2 564
Retinitis pigmentosa 60 99 152 8 14 3 320
Usher syndrome 86 82 26 8 5 0 193
Inborn genetic diseases 5 2 155 11 0 0 173
Rare genetic deafness 69 23 0 0 0 0 92
USH2A-related condition 18 7 8 49 3 0 85
Usher syndrome type 2 56 6 1 0 0 0 63
Hearing impairment 3 2 12 1 0 0 17
USH2A-Related Disorders 9 2 2 0 0 7 15
Cone-rod dystrophy 4 1 2 0 0 0 7
Leber congenital amaurosis 0 1 6 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
Ear malformation 5 1 0 0 0 0 6
Usher syndrome; Rare genetic deafness 4 1 0 0 0 0 5
Autosomal dominant nonsyndromic hearing loss 36 1 2 1 0 0 0 4
Nonsyndromic genetic hearing loss 4 0 0 0 0 0 4
See cases 2 1 0 1 0 0 4
Childhood onset hearing loss 0 0 2 0 0 0 2
Cone-rod dystrophy 3 0 0 2 0 0 0 2
Congenital sensorineural hearing impairment 1 1 0 0 0 0 2
Congenital stationary night blindness 1 0 1 0 0 0 2
Familial aplasia of the vermis; 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
Retinal dystrophy; Retinal degeneration 1 0 1 0 0 0 2
Rod-cone dystrophy 2 0 0 0 0 0 2
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Abnormal autonomic nervous system physiology; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal upper limb bone morphology 1 0 1 0 0 0 2
Usher syndrome type 1 0 2 0 0 0 0 2
Bardet-Biedl syndrome 0 0 1 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
Hearing loss, autosomal recessive 0 1 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
Pigmentary retinopathy 1 0 0 0 0 0 1
Progressive cone dystrophy (without rod involvement) 0 0 1 0 0 0 1
Sensorineural hearing loss disorder 0 1 0 0 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 1 0 0 0 0 0 1
Usher syndrome type 3A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 132
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 1164 223 1821 3202 222 0 6632
Genome-Nilou Lab 138 236 460 179 122 0 1133
GeneDx 108 36 303 270 327 0 1044
Natera, Inc. 99 18 523 101 88 0 829
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 84 28 162 194 146 1 615
Baylor Genetics 257 274 17 0 0 0 544
Counsyl 72 169 204 30 0 0 475
Blueprint Genetics 114 93 137 0 0 0 344
Dept Of Ophthalmology, Nagoya University 33 32 129 53 42 0 289
Eurofins Ntd Llc (ga) 40 4 147 18 54 0 263
CeGaT Center for Human Genetics Tuebingen 57 18 97 63 12 0 247
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 47 41 97 21 26 0 232
Ambry Genetics 5 2 155 11 0 0 173
Fulgent Genetics, Fulgent Genetics 36 14 79 26 8 0 163
Illumina Laboratory Services, Illumina 6 0 116 12 22 0 144
PreventionGenetics, part of Exact Sciences 18 7 8 51 33 0 117
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 0 31 12 63 0 110
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 22 8 35 12 21 0 98
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 15 1 29 35 15 0 95
Ocular Genomics Institute, Massachusetts Eye and Ear 19 39 35 0 1 0 94
Clinical Genetics, Academic Medical Center 19 6 22 20 20 0 87
NIHR Bioresource Rare Diseases, University of Cambridge 11 47 26 2 0 0 86
Myriad Genetics, Inc. 7 62 15 0 0 0 84
Revvity Omics, Revvity 24 16 19 0 0 0 59
Molecular Genetics Laboratory, Institute for Ophthalmic Research 53 0 0 0 0 0 53
Mendelics 16 10 6 1 17 0 50
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 12 21 15 0 0 0 48
Sharon lab, Hadassah-Hebrew University Medical Center 21 25 0 0 0 0 46
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 33 13 0 0 0 0 46
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 11 21 14 0 0 0 46
Athena Diagnostics Inc 1 0 6 6 32 0 45
ClinGen Hearing Loss Variant Curation Expert Panel 12 7 14 7 5 0 45
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 24 12 3 0 0 0 39
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 17 9 13 0 0 0 37
DBGen Ocular Genomics 13 12 8 0 0 0 33
Centre for Mendelian Genomics, University Medical Centre Ljubljana 8 5 12 1 0 0 26
3billion 17 5 2 0 0 0 24
Institute of Human Genetics, University of Leipzig Medical Center 13 6 4 0 0 0 23
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 16 0 5 0 0 0 21
Department of Ophthalmology and Visual Sciences Kyoto University 6 11 0 2 0 0 19
Genomics England Pilot Project, Genomics England 15 4 0 0 0 0 19
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 8 7 3 0 0 0 18
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 15 3 0 0 0 0 18
OMIM 17 0 0 0 0 0 17
Genetics and Molecular Pathology, SA Pathology 10 4 3 0 0 0 17
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 1 12 1 0 0 15
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 7 4 1 0 0 0 12
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 0 0 10 10
Institute of Human Genetics, University Hospital Muenster 7 0 2 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 2 0 6 0 0 0 8
National Institute on Deafness and Communication Disorders, National Institutes of Health 6 0 2 0 0 0 8
MGZ Medical Genetics Center 4 1 2 0 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 6 0 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 0 1 5 0 7
Faculty of Health Sciences, Beirut Arab University 7 0 0 0 0 0 7
The Shared Resource Centre "Genome", Research Centre for Medical Genetics 5 2 0 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 1 3 0 0 0 6
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, 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
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Kariminejad - Najmabadi Pathology & Genetics Center 5 1 0 0 0 0 6
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 2 2 2 0 0 0 6
WangQJ Lab, Chinese People's Liberation Army General Hospital 2 2 2 0 0 0 6
GeneReviews 0 2 0 0 0 3 5
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 5 0 0 0 5
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 2 1 0 0 0 5
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 2 3 0 0 0 0 5
AiLife Diagnostics, AiLife Diagnostics 1 2 2 0 0 0 5
Pars Genome Lab 0 0 3 2 0 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 1 2 0 0 0 5
Institute of Human Genetics, University of Goettingen 1 2 0 1 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 3 0 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 4 0 0 0 4
INSERM U1051, Institut des Neurosciences de Montpellier 1 2 1 0 0 0 4
Molecular Genetics Laboratory; Baylor College of Medicine 0 1 3 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 2 0 0 0 4
Cytogenetics and Genomics Laboratory, Medical University of South Carolina 0 0 4 0 0 0 4
Laboratory of Otorhinolaryngology, Head and Neck Surgery, Seoul National University Hospital 1 2 1 0 0 0 4
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 2 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 2 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 2 0 3
Department of Genetics, Fundacion Jimenez Diaz University Hospital 0 1 2 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 2 0 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
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 0 0 0 0 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
DASA 3 0 0 0 0 0 3
Pangenia Genomics, Pangenia Inc. 1 0 2 0 0 0 3
King Laboratory, University of Washington 2 0 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, Seoul National University Hospital 0 0 2 0 0 0 2
Bionano Laboratories 2 0 0 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), 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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 1 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 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 School of Medicine 0 0 2 0 0 0 2
Rui Chen Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Center for Statistical Genetics, Columbia University 2 0 0 0 0 0 2
Institute of Human Genetics, University of Wuerzburg 0 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 1 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Otorhinolaryngology Lab - LIM32, University of Sao Paulo School of Medicine Clinics Hospital 1 0 1 0 0 0 2
INGEBI, INGEBI / CONICET 2 0 0 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
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 2 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 2 0 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 0 0 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 1 1 0 0 0 0 2
FirmaLab, FirmaLab 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Variantyx, Inc. 1 0 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 1 0 0 0 0 0 1

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