ClinVar Miner

Variants studied for uveal disorder

Included ClinVar conditions (34):
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 risk factor not provided total
519 218 633 512 188 6 11 1980

Gene and significance breakdown #

Total genes and gene combinations: 55
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
PAX6 263 67 106 107 15 0 2 546
OAT 85 78 174 240 23 0 0 540
CFH 7 3 104 48 36 0 0 185
CHM 47 17 24 13 9 0 5 110
ELP4, PAX6 16 2 35 22 29 0 2 103
PRPH2 11 1 38 7 38 0 0 94
TUBGCP6 8 16 36 7 9 0 2 75
LOC121815974, OAT 10 9 8 31 1 0 0 55
FOXC1 10 2 30 2 1 0 0 45
WT1 7 0 19 12 0 0 0 38
GUCY2D 6 3 19 2 4 0 0 33
BAP1 3 1 1 12 12 2 0 31
LOC107982234, WT1 0 0 19 3 0 0 0 22
PLK4 2 3 5 2 2 0 0 14
CHM, LOC129391306 5 2 2 1 2 0 0 12
TUBGCP4 6 3 2 0 2 0 0 12
LOC106014249, PAX6 0 0 5 0 1 0 0 6
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 4 0 0 0 0 0 0 4
LTBP2 0 3 2 0 0 0 0 4
MBD4 0 0 0 0 0 4 0 4
DCDC1, DNAJC24, ELP4, IMMP1L 3 0 0 0 0 0 0 3
FOXC1, LOC129995601 2 0 1 0 0 0 0 3
GNAQ 0 3 0 0 0 0 0 3
TRIM44 1 0 0 0 2 0 0 3
ELP4, LOC106007485, LOC106007493, PAX6 2 0 0 0 0 0 0 2
ELP4, PAX6DRR 1 0 1 0 0 0 0 2
GNA11 0 2 0 0 0 0 0 2
TP53BP1, TUBGCP4 1 1 0 1 0 0 0 2
​intergenic 0 1 0 0 0 0 0 1
ALPK1, ANK2, AP1AR, AP1AR-DT, ARSJ, CAMK2D, FAM241A, LARP7, LINC02945, LOC105377366, LOC110120703, LOC110120805, LOC110120819, LOC111591508, LOC112935973, LOC112935974, LOC112935975, LOC112935976, LOC123477806, LOC123477807, LOC123477808, LOC123477809, LOC123477810, LOC123480920, LOC123480921, LOC126807136, LOC126807137, LOC126807138, LOC126807139, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC129992992, LOC129992993, LOC129992994, LOC129992995, LOC129992996, LOC129992997, LOC129992998, LOC129992999, LOC132089001, LOC132089002, LOC132089003, LOC132089004, MIR1243, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR8082, NEUROG2, TIFA, ZGRF1 1 0 0 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CSRP3, DBX1, DCDC1, DNAJC24, E2F8, ELP4, FANCF, FIBIN, FSHB, GAS2, HTATIP2, IGSF22, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LUZP2, METTL15, MIR610, MPPED2, MRGPRX1, MRGPRX2, MUC15, NAV2, NELL1, PAX6, PRMT3, PTPN5, SLC17A6, SLC5A12, SLC6A5, SPTY2D1, SVIP, TMEM86A, TSG101, UEVLD, ZDHHC13 1 0 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980003, LOC105980005, LOC105980073, LOC126861175, LOC129390272, LOC129390273, LOC129390274, LOC130005470, LOC130005471, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, LOC126861175, LOC129390272, LOC129390273, LOC129390274, LOC130005469, LOC130005470, LOC130005471, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC126861175, LOC129390272, LOC129390273, LOC129390274, LOC130005469, LOC130005470, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC126861175, LOC129390272, LOC129390273, LOC129390274, LOC130005470, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 0 1
DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, LOC129390272, LOC129390273, LOC129390274, LOC130005471, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 0 1
ELP4 0 0 0 0 1 0 0 1
ELP4, LOC105980003, LOC105980073, LOC126861176, LOC130005471, PAX6, PAX6DRR 1 0 0 0 0 0 0 1
ELP4, LOC105980003, LOC106007485, LOC106007493, LOC106014249, LOC126861176, PAX6 1 0 0 0 0 0 0 1
EPHA2 1 0 0 0 0 0 0 1
EYS 1 0 0 0 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 0 0 1
FOXC1, GMDS 1 0 0 0 0 0 0 1
FOXC1, LOC129995600 0 0 0 0 1 0 0 1
GLIS3 0 0 0 1 0 0 0 1
KIF11 1 0 0 0 0 0 0 1
KIF21A 0 0 0 1 0 0 0 1
LOC106007493, PAX6 0 1 0 0 0 0 0 1
LOC108281177, SOX2, SOX2-OT 0 0 1 0 0 0 0 1
NKX1-2, OAT 1 0 0 0 0 0 0 1
PLCB4 1 0 0 0 0 0 0 1
RIMS1 1 0 0 0 0 0 0 1
TMEM127 0 0 1 0 0 0 0 1
TTLL5 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 105
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 214 39 233 379 30 0 0 895
Illumina Laboratory Services, Illumina 1 2 155 48 99 0 0 304
Fulgent Genetics, Fulgent Genetics 17 7 124 59 8 0 0 215
Genome-Nilou Lab 1 0 68 28 62 0 0 159
Wessex Regional Genetics Laboratory, Salisbury District Hospital 109 24 2 0 0 0 0 135
Natera, Inc. 11 2 50 27 14 0 0 104
OMIM 88 0 0 0 2 6 0 96
Baylor Genetics 21 44 17 0 0 0 0 82
Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics 40 7 2 0 0 0 0 49
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 1 33 0 0 0 0 0 34
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 12 12 0 0 24
Mendelics 12 0 3 0 3 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 10 1 7 0 0 0 0 18
Revvity Omics, Revvity 1 4 10 0 0 0 0 15
Juno Genomics, Hangzhou Juno Genomics, Inc 4 4 4 0 0 0 0 12
Genetics Department, University Hospital of Toulouse 8 1 3 0 0 0 0 12
Molecular Genetics Laboratory, Institute for Ophthalmic Research 11 0 0 0 0 0 0 11
EVA, EMBL-EBI 11 0 0 0 0 0 0 11
Genetics and Molecular Pathology, SA Pathology 11 0 0 0 0 0 0 11
Sharon lab, Hadassah-Hebrew University Medical Center 10 1 0 0 0 0 0 11
Eye & ENT Hospital, Shanghai Medical College, Fudan University 0 11 0 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 4 0 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 4 5 0 1 0 0 10
3billion 3 2 3 0 0 0 0 8
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 3 2 2 0 0 0 0 7
Myriad Genetics, Inc. 0 7 0 0 0 0 0 7
GeneReviews 0 0 0 0 0 0 6 6
Department of Genetics, Fundacion Jimenez Diaz University Hospital 6 0 0 0 0 0 0 6
Counsyl 2 2 0 0 1 0 0 5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 1 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 1 4 0 0 0 0 0 5
Database of Curated Mutations (DoCM) 0 5 0 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 0 0 0 5
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 3 0 0 0 0 0 5
DBGen Ocular Genomics 4 0 1 0 0 0 0 5
Institute of Human Genetics, University of Goettingen 2 1 1 0 0 0 0 4
Elahi Laboratory, University of Tehran 0 3 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 0 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 3 1 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 3 0 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 1 0 0 0 0 0 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 1 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 3 0 0 0 0 0 0 3
MVZ Medizinische Genetik Mainz 2 0 1 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 2 0 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 2 0 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 2 0 0 2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 2 0 0 0 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 1 0 1 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 2
Laboratory of Human Genetics, Universidade de São Paulo 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 0 0 2
KK Women’s and Children’s Hospital 2 0 0 0 0 0 0 2
Harbour Laboratory, University of Miami Miller School of Medicine 2 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 0 0 1 0 1 0 0 2
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 0 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 2 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 1
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 1 0 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 1 0 0 0 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 0 0 0 0 0 1
Hunan Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital 1 0 0 0 0 0 0 1
Edmonton Ocular Genetics, Alberta Health Services 1 0 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 0 0 0 0 1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 0 1
Breda Genetics srl 0 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 0 1
Moosajee Lab, UCL Institute of Ophthalmology 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 0 1
DASA 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 0 1

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