ClinVar Miner

Variants in gene USH2A

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Minimum submission review status: Collection method:
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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
245 324 639 473 218 11 1596

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 93 48 231 300 162 10 768
not specified 3 0 164 221 154 1 502
Usher syndrome, type 2A; Retinitis pigmentosa 39 56 143 221 28 0 0 445
Usher syndrome, type 2A 69 36 17 1 18 0 136
Retinitis pigmentosa 24 73 30 1 0 0 122
Rare genetic deafness 68 22 0 0 0 0 90
Retinitis pigmentosa 39 35 25 12 0 0 0 71
Retinitis Pigmentosa, Recessive 0 0 60 8 2 0 70
Retinitis pigmentosa-deafness syndrome 0 0 60 8 2 0 70
Usher syndrome 16 20 12 5 4 0 54
Retinal dystrophy 2 8 16 0 0 0 26
Usher syndrome type 2 15 4 0 0 0 0 19
Inborn genetic diseases 4 3 2 0 0 0 9
Leber congenital amaurosis 0 0 7 0 0 0 7
Usher syndrome; Rare genetic deafness 6 1 0 0 0 0 7
USH2A-Related Disorders 5 0 1 0 0 0 6
Cone-rod dystrophy 2 1 2 0 0 0 5
Hearing impairment 2 0 1 0 0 0 3
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
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
Macular dystrophy 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: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 81 24 151 176 145 1 578
Counsyl 75 160 215 28 0 0 478
Invitae 33 10 0 272 117 0 432
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 38 4 137 18 56 0 253
GeneDx 41 20 23 59 75 0 218
CeGaT Praxis fuer Humangenetik Tuebingen 0 18 73 11 0 0 102
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 18 8 47 0 76
Sharon lab,Hadassah-Hebrew University Medical Center 19 25 0 0 0 0 44
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 11 18 14 0 0 0 43
Mendelics 12 9 3 1 17 0 42
Athena Diagnostics Inc 0 0 7 4 29 0 40
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 16 9 13 0 0 0 36
PreventionGenetics,PreventionGenetics 0 0 0 3 27 0 30
Human Genetics - Radboudumc,Radboudumc 9 5 12 0 0 0 26
Fulgent Genetics,Fulgent Genetics 10 1 12 0 0 0 23
ClinGen Hearing Loss Variant Curation Expert Panel, 6 4 4 4 5 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
Baylor Genetics 10 2 2 0 0 0 14
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 10 10
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 6 4 0 0 0 0 10
Ambry Genetics 4 3 2 0 0 0 9
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
Broad Institute Rare Disease Group,Broad Institute 3 1 1 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
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, Columbia University 2 0 1 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 0 1 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 1 2 0 0 0 0 3
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
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
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 0 0 1 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 1

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