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
190 276 597 231 157 11 1232

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Usher syndrome, type 2A; Retinitis pigmentosa 39 68 152 222 28 0 0 467
not specified 0 0 144 207 152 1 467
not provided 64 35 214 12 37 10 357
Usher syndrome, type 2A 94 45 14 0 1 0 145
Retinitis pigmentosa 16 41 19 1 0 0 75
Retinitis Pigmentosa, Recessive 0 0 60 8 2 0 70
Retinitis pigmentosa-deafness syndrome 0 0 60 8 2 0 70
Retinitis pigmentosa 39 21 15 11 0 0 0 45
Usher syndrome 14 16 10 2 2 0 43
Retinal dystrophy 2 8 16 0 0 0 26
Inborn genetic diseases 4 3 2 0 0 0 9
Leber congenital amaurosis 0 0 7 0 0 0 7
USH2A-Related Disorders 4 0 1 0 0 0 5
Hearing impairment 2 0 1 0 0 0 3
See cases 0 0 2 1 0 0 3
Cone-rod dystrophy 0 0 2 0 0 0 2
Congenital sensorineural hearing impairment 1 1 0 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
Usher syndrome, type 1 0 2 0 0 0 0 2
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
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; Abnormality of upper limb bone 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 78 22 135 166 145 1 547
Counsyl 69 159 215 28 0 0 471
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 38 4 137 18 56 0 253
GeneDx 40 20 23 42 51 0 176
NIHR Bioresource Rare Diseases,University of Cambridge 11 46 28 2 0 0 87
Illumina Clinical Services Laboratory,Illumina 4 0 63 8 2 0 77
CeGaT Praxis fuer Humangenetik Tuebingen 0 13 57 6 0 0 76
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 14 4 29 0 47
PreventionGenetics 0 0 0 3 27 0 30
Human Genetics - Radboudumc,Radboudumc 9 5 12 0 0 0 26
Fulgent Genetics 10 1 12 0 0 0 23
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 2 9 13 0 0 0 23
Department of Ophthalmology and Visual Sciences Kyoto University 7 11 0 2 0 0 20
OMIM 15 0 0 0 0 0 15
ClinGen Hearing Loss Variant Curation Expert Panel, 6 1 2 1 2 0 12
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 10 10
Ambry Genetics 4 3 2 0 0 0 9
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 3 0 0 0 0 8
Athena Diagnostics Inc 0 0 0 1 6 0 7
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 1 5 0 6
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 4 0 0 0 5
GeneReviews 3 2 0 0 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 5 0 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 1 2 0 0 0 5
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
Broad Institute Rare Disease Group,Broad Institute 3 1 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 1 0 2 0 0 0 3
Molecular Diagnostics Laboratory,Seoul National University Hospital 0 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 2 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,Baylor College of Medicine 2 0 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 0 0 0 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 2 0 0 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 2 0 0 0 0 0 2
GeneID Lab - Advanced Molecular Diagnostics 0 2 0 0 0 0 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 1 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
FirmaLab 1 0 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1
Sema4,Sema4 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 1
Servicio Extremeño de Salud,Hospital de Mérida 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1

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