ClinVar Miner

Variants studied for cataract

Included ClinVar conditions (65):
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
256 103 1242 524 514 1 2524

Gene and significance breakdown #

Total genes and gene combinations: 74
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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 10 4 73 46 70 0 192
GJA3 15 11 90 8 43 0 161
GJA8 31 9 54 22 12 0 121
TDRD7 6 2 68 17 16 0 101
MAF 8 4 26 29 10 0 76
HSF4 10 2 33 18 17 1 75
BFSP1 5 1 27 19 21 0 73
MIP 9 3 30 10 19 0 69
BFSP2 4 0 31 12 22 0 64
PITX2 0 0 38 0 25 0 63
CRYBB3 4 1 39 15 10 0 62
CRYAA 9 3 28 13 10 0 60
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
CRYGC, LOC100507443 9 2 20 8 10 0 48
CRYBB2 5 7 23 7 6 0 47
VIM 3 0 15 15 11 0 43
CRYBA1 5 7 14 9 9 0 42
CRYGD, LOC100507443 8 1 10 4 16 0 37
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
FBXL8, HSF4 0 0 5 2 6 0 13
CHMP4B 2 1 3 2 4 0 12
HSF4, LOC125177334 0 0 9 0 3 0 12
DNMBP 3 1 1 0 6 0 11
NHS 2 1 6 1 1 0 11
LOC124310607, TDRD7 0 0 7 0 1 0 8
SIPA1L3 2 0 4 0 2 0 8
FOXE3, LINC01389 4 1 0 0 1 0 6
LOC126860694, TDRD7 0 0 4 1 1 0 6
BFSP2, LOC129937591 0 0 1 1 2 0 4
GBF1, PITX3 2 0 0 0 1 0 3
PANK4 1 0 0 0 2 0 3
UNC45B 1 0 1 0 1 0 3
ACP6, BCL9, CHD1L, GJA5, GJA8 1 0 1 0 0 0 2
COPB1 0 2 0 0 0 0 2
EPM2A 0 0 2 0 0 0 2
XDH 0 0 2 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ABCG1, ADARB1, AGPAT3, AIRE, C21orf58, C2CD2, CBS, CFAP410, COL18A1, COL6A1, COL6A2, CRYAA, CSTB, DNMT3L, FTCD, GATD3, HSF2BP, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LINC00163, LINC00315, LINC00334, LRRC3, LSS, MCM3AP, NDUFV3, PCBP3, PCNT, PDE9A, PDXK, PFKL, PKNOX1, POFUT2, PRDM15, PTTG1IP, PWP2, RIPK4, RRP1, RRP1B, RSPH1, SIK1, SLC19A1, SLC37A1, SLX9, SPATC1L, SUMO3, TFF1, TFF2, TFF3, TMPRSS3, TRAPPC10, TRPM2, TSPEAR, U2AF1, UBASH3A, UBE2G2, UMODL1, WDR4, YBEY, ZBTB21 0 0 1 0 0 0 1
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
COL18A1 0 1 0 0 0 0 1
COL18A1, SLC19A1 0 1 0 0 0 0 1
COL5A1 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
IARS2 1 0 0 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
MMAA 0 0 1 0 0 0 1
PTCH1 0 0 1 0 0 0 1
RAG1 0 0 1 0 0 0 1
RHO 1 0 0 0 0 0 1
SIL1 1 0 0 0 0 0 1
TALDO1 0 0 1 0 0 0 1
TRPM3 1 0 0 0 0 0 1
UPF3B 0 0 1 0 0 0 1
WRN 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 71
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 104 34 489 374 288 0 1289
Illumina Laboratory Services, Illumina 0 0 546 88 301 0 935
Fulgent Genetics, Fulgent Genetics 14 11 158 81 6 0 270
OMIM 114 0 1 0 0 0 115
Genome-Nilou Lab 1 1 0 0 65 0 67
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 5 14 0 0 0 20
Revvity Omics, Revvity 5 2 11 0 0 0 18
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 6 10 0 0 0 17
Baylor Genetics 2 0 13 1 0 0 16
Molecular Medicine, University of Pavia 3 6 6 0 0 0 15
MGZ Medical Genetics Center 3 1 8 0 0 0 12
Genomics England Pilot Project, Genomics England 2 9 0 0 0 0 11
3billion 5 1 4 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 5 0 0 0 8
Institute of Human Genetics, University of Leipzig Medical Center 1 1 5 0 0 0 7
Genetics and Molecular Pathology, SA Pathology 2 2 2 0 0 0 6
Mendelics 1 1 1 1 1 0 5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 3 0 0 0 5
SIB Swiss Institute of Bioinformatics 2 1 1 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 1 0 0 0 3
Eye Genetics Research Group, Children's Medical Research Institute 2 0 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 1 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Human Developmental Genetics Laboratory, Medical College of Wisconsin 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 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
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 2
Institute of Reproductive and Stem Cell Engineering, Central South University 2 0 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 0 0 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
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 2 0 0 0 0 2
UCL Queen Square Institute of Neurology, University College London 0 2 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 1
Samuels research lab, Centre de Recherche du CHU Ste-Justine 1 0 0 0 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
Database of Curated Mutations (DoCM) 0 1 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
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 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
Zheng Lab, Zhongnan Hospital of Wuhan University 1 0 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 1 0 0 0 0 0 1
Lilac Insights Private Limited 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems 0 1 0 0 0 0 1
Department of Ophthalmology, Fourth Military Medical University 1 0 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
Suma Genomics 1 0 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
Research Laboratory of Ophthalmology and Vision Sciences, West China Hospital, Sichuan University 0 0 1 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
Laboratório de Alta Complexidade, Instituto Fernandes Figueira - FIOCRUZ 1 0 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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