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
170 177 54 11 7 2 402

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
USH2A 86 82 26 8 5 0 193
MYO7A 33 27 8 2 0 0 68
ADGRV1 13 24 1 0 0 0 37
CDH23 10 17 6 1 0 2 35
PCDH15 4 5 0 0 0 0 9
CLRN1 4 3 0 0 0 0 7
USH1C 3 5 0 0 0 0 7
C10orf105, CDH23 1 2 1 0 1 0 5
LOC122152296, USH2A 3 0 0 0 1 0 4
USH1G 1 3 0 0 0 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
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: 17
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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 76 78 0 0 0 0 154
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 14 16 28 10 7 0 75
NIHR Bioresource Rare Diseases, University of Cambridge 8 36 8 1 0 0 53
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 12 10 0 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
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center 1 0 4 0 0 0 5
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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