ClinVar Miner

Variants studied for Usher syndrome

Coded as:
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
195 190 51 11 7 2 436

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
USH2A 97 90 22 8 5 0 209
MYO7A 40 28 8 2 0 0 74
ADGRV1 15 24 2 0 0 0 40
CDH23 13 18 6 1 0 2 39
CLRN1 5 4 0 0 0 0 9
PCDH15 4 5 0 0 0 0 9
USH1C 3 6 0 0 0 0 8
C10orf105, CDH23 1 2 1 0 1 0 5
USH1G 2 3 0 0 0 0 5
LOC122152296, USH2A 3 0 0 0 1 0 4
WHRN 2 1 0 0 0 0 3
CIB2 1 1 0 0 0 0 2
PDE6A 0 0 2 0 0 0 2
PDZD7 2 0 0 0 0 0 2
PROM1 1 0 1 0 0 0 2
ARSG 1 0 0 0 0 0 1
ATP6V1B1 0 0 1 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 0 0 1
BPNT1, C1orf115, DUSP10, EPRS1, ESRRG, GPATCH2, HHIPL2, HLX, IARS2, LINC00210, LINC01352, LINC01653, LINC01655, LINC01710, LINC02257, LINC02474, LINC02779, LINC02817, LINC02869, LOC107325941, LOC110121042, LOC111429604, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC121725074, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LYPLAL1, LYPLAL1-DT, MARK1, MIR194-1, MIR215, MIR664A, MTARC1, MTARC2, RAB3GAP2, RRP15, SLC30A10, SNORA36B, SPATA17, TAF1A, TGFB2, TGFB2-OT1, TRT-TGT2-1, USH2A, ZC3H11B 0 1 0 0 0 0 1
CABP4 0 1 0 0 0 0 1
CCDC40 0 1 0 0 0 0 1
CDH23, LOC111982869 0 1 0 0 0 0 1
CEP250 1 0 0 0 0 0 1
COCH, LOC100506071 0 0 1 0 0 0 1
COL4A4 0 0 1 0 0 0 1
CRX 0 0 1 0 0 0 1
DGKQ, LOC129991967 0 0 1 0 0 0 1
FMC1, FMC1-LUC7L2, LUC7L2 0 1 0 0 0 0 1
GUCA1A, GUCA1ANB-GUCA1A 1 0 0 0 0 0 1
HARS1 0 0 1 0 0 0 1
HDAC6 0 0 1 0 0 0 1
LOC105378311, MIR548F1, PCDH15 0 1 0 0 0 0 1
LOC126806009, USH2A 1 0 0 0 0 0 1
LOC126806529, PAX3 0 0 1 0 0 0 1
OTOA 0 1 0 0 0 0 1
OTOP2, USH1G 0 1 0 0 0 0 1
PRPH2 0 1 0 0 0 0 1
SERPINB6 0 0 1 0 0 0 1
SLC9B1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 94 93 0 0 0 0 187
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 56 35 9 0 0 0 100
ClinGen Hearing Loss Variant Curation Expert Panel 17 15 24 10 7 0 73
NIHR Bioresource Rare Diseases, University of Cambridge 8 36 8 1 0 0 53
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 11 10 1 0 0 0 22
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 6 6 2 0 0 0 14
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 5 1 0 0 0 0 6
Faculty of Health Sciences, Beirut Arab University 6 0 0 0 0 0 6
Laboratory of Human Genetics, Universidade de São Paulo 4 0 1 0 0 0 5
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 4 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Sharon lab, Hadassah-Hebrew University Medical Center 2 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 1 0 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1

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