ClinVar Miner

Variants studied for cataract 34 multiple types

Included ClinVar conditions (37):
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
182 71 975 450 406 1 1991

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FYCO1 18 3 154 54 74 0 282
WFS1 15 13 140 66 3 0 237
AGK 16 6 110 95 23 0 236
EPHA2 9 3 73 46 70 0 191
GJA3 15 11 90 8 43 0 161
MAF 8 4 26 29 10 0 76
BFSP1 5 1 27 19 21 0 73
HSF4 10 2 31 18 17 1 73
BFSP2 3 0 31 11 22 0 62
CRYBB3 3 1 39 15 10 0 61
MIP 9 3 26 9 16 0 61
CRYBA4, CRYBB1 5 4 40 9 5 0 56
LIM2 3 1 43 10 5 0 56
CRYBA4 3 2 18 16 13 0 52
VIM 3 0 15 15 11 0 43
CRYBA1 5 7 14 9 9 0 42
GCNT2 12 3 12 4 9 0 37
CRYAB 5 1 20 3 6 0 35
CRYGS 4 1 17 2 5 0 28
CRYGB, LOC100507443 2 0 8 4 7 0 20
LSS 4 1 2 1 6 0 14
CHMP4B 2 1 3 2 4 0 12
FBXL8, HSF4 0 0 5 1 6 0 12
HSF4, LOC125177334 0 0 9 0 3 0 12
NHS 2 1 6 1 1 0 11
CRYGC, LOC100507443 7 0 3 1 0 0 10
SIPA1L3 2 0 4 0 2 0 8
FOXE3, LINC01389 4 1 0 0 1 0 6
BFSP2, LOC129937591 0 0 1 1 2 0 4
GBF1, PITX3 2 0 0 0 1 0 3
UNC45B 1 0 1 0 1 0 3
ARHGEF19, EPHA2 1 0 0 0 0 0 1
ASPHD2, CRYBA4, CRYBB1, HPS4, MYO18B, SEZ6L, SRRD, TFIP11, TPST2 0 0 1 0 0 0 1
B3GNT9, BEAN1, CA7, CBFB, CDH16, CDH5, CES2, CES3, CES4A, CIAO2B, CKLF, CKLF-CMTM1, CMTM1, CMTM2, CMTM3, CMTM4, DYNC1LI2, FBXL8, HSF4, NAE1, NOL3, PDP2, PHAF1, RRAD, TERB1, TK2, TRADD 1 0 0 0 0 0 1
BFSP1, PCSK2 0 0 1 0 0 0 1
C6orf52, GCM2, GCNT2, MAK, PAK1IP1, TFAP2A, TMEM14B, TMEM14C 0 0 1 0 0 0 1
COL12A1 0 1 0 0 0 0 1
CRYBB1 0 0 1 0 0 0 1
CRYL1, EEF1AKMT1, GJA3, GJB2, GJB6, IFT88, IL17D, XPO4 0 0 1 0 0 0 1
DYNLRB2, LINC01227, LINC01228, LINC01229, LOC101928230, LOC110120569, LOC110120570, LOC111365156, LOC111365213, LOC111429607, LOC112486209, LOC121587563, LOC121587564, LOC121587565, LOC125177356, LOC125177357, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC129390812, LOC130059460, LOC130059461, LOC130059462, LOC130059463, LOC130059464, LOC130059465, LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, MAF, MAFTRR, WWOX 1 0 0 0 0 0 1
HSF4, LOC130059183 0 0 1 0 0 0 1
LEMD2, LOC129996186 1 0 0 0 0 0 1
LOC101928389, NHS 1 0 0 0 0 0 1
LOC130003452, VIM 0 0 1 0 0 0 1
LOC130003453, VIM 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 67 23 390 316 245 0 1041
Illumina Laboratory Services, Illumina 0 0 403 70 229 0 702
Fulgent Genetics, Fulgent Genetics 14 11 158 80 6 0 269
OMIM 84 0 1 0 0 0 85
Genome-Nilou Lab 0 0 0 0 49 0 49
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 6 6 0 0 0 13
Baylor Genetics 2 0 10 0 0 0 12
Revvity Omics, Revvity 2 2 7 0 0 0 11
Genomics England Pilot Project, Genomics England 1 8 0 0 0 0 9
MGZ Medical Genetics Center 2 0 6 0 0 0 8
Molecular Medicine, University of Pavia 1 4 3 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 6 0 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 4 0 0 0 6
Mendelics 1 1 1 1 1 0 5
3billion 2 1 2 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 1 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 1 0 0 0 3
Human Developmental Genetics Laboratory, Medical College of Wisconsin 2 0 0 0 0 0 2
Eye Genetics Research Group, Children's Medical Research Institute 1 0 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 1 0 0 2
New York Genome Center 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital 1 0 0 0 0 0 1
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine 0 1 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems 0 1 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Discovery DNA Inc 0 1 0 0 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 0 0 0 0 1

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