ClinVar Miner

Variants studied for anterior segment dysgenesis

Included ClinVar conditions (34):
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
363 107 757 449 177 4 1822

Gene and significance breakdown #

Total genes and gene combinations: 47
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
FOXC1 78 15 205 108 21 0 422
PAX6 131 22 99 108 14 0 368
FOXE3, LINC01389 22 10 158 87 14 1 286
PXDN 17 3 54 64 60 0 198
CYP1B1 26 26 109 6 13 1 176
PITX2 25 6 47 17 26 0 113
ELP4, PAX6 8 1 33 30 11 0 83
ITPR1 10 3 22 9 8 2 52
FOXC1, LOC129995601 17 4 12 7 1 0 40
CYP1B1, LOC128772254 6 1 3 1 4 0 14
CPAMD8 3 4 5 0 0 0 12
ITPR1, LOC126806590 5 3 1 0 2 0 10
LOC106014249, PAX6 0 0 4 1 0 0 5
GBF1, PITX3 1 0 1 0 1 0 3
PTCH1 0 3 0 0 0 0 3
​intergenic 1 0 1 0 0 0 2
COL4A1 1 1 0 0 0 0 2
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 2 0 0 0 0 0 2
FOXC1, FOXF2, FOXQ1, GMDS 2 0 0 0 0 0 2
GJA8 0 2 0 0 0 0 2
PITRM1 0 0 0 1 1 0 2
ADAMTS17 1 0 0 0 0 0 1
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SLX9, SPATC1L, YBEY 1 0 0 0 0 0 1
ARHGAP35 1 0 0 0 0 0 1
BCOR, LOC126863239 0 0 1 0 0 0 1
BMP4 0 1 0 0 0 0 1
BPHL, EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B, IRF4, LINC01600, MYLK4, NQO2, PSMG4, RIPK1, SERPINB1, SERPINB6, SERPINB9, SLC22A23, TUBB2A, TUBB2B, WRNIP1 1 0 0 0 0 0 1
CHST5 0 0 0 1 0 0 1
CMPK1, FOXE3, STIL 0 0 1 0 0 0 1
CYP1B1, LOC110599580 0 0 1 0 0 0 1
DAB1 0 0 0 1 0 0 1
DACT1 0 0 0 1 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC105980073, LOC126861176, LOC130005471, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC106007485, LOC106007493, PAX6 1 0 0 0 0 0 1
EPHB2 0 0 0 1 0 0 1
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B 1 0 0 0 0 0 1
FAT1 0 0 0 1 0 0 1
FAT4 0 0 0 1 0 0 1
FOXC1, LOC129995600 0 0 0 0 1 0 1
FRAS1 0 0 0 1 0 0 1
FREM1 0 0 0 1 0 0 1
GPR180, TGDS 1 0 0 0 0 0 1
LOC106007493, PAX6 0 1 0 0 0 0 1
PRPF8 0 0 0 1 0 0 1
RARG 0 0 0 1 0 0 1
RBP4 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 229 33 512 386 113 0 1273
Illumina Laboratory Services, Illumina 0 1 181 44 46 0 264
Fulgent Genetics, Fulgent Genetics 12 3 38 13 4 0 70
Baylor Genetics 28 26 12 0 0 0 66
OMIM 42 0 0 0 0 0 42
Human Developmental Genetics Laboratory, Medical College of Wisconsin 30 8 0 0 0 0 38
Genome-Nilou Lab 0 0 0 0 29 0 29
Eye Genetics Research Group, Children's Medical Research Institute 13 8 0 0 0 0 20
Genetics and Molecular Pathology, SA Pathology 15 1 3 0 0 0 19
Paul Sabatier University EA-4555, Paul Sabatier University 0 3 0 11 0 0 14
Genetics Department, University Hospital of Toulouse 7 5 2 0 0 0 14
3billion 2 5 6 0 0 0 13
Molecular Medicine, University of Pavia 2 3 1 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 3 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 5
DBGen Ocular Genomics 1 2 2 0 0 0 5
Mendelics 1 0 0 0 3 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 2 0 0 0 4
Revvity Omics, Revvity 0 1 2 0 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 2 0 1 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Suma Genomics 1 0 2 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 2 0 0 0 2
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 1 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 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
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 0 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Laboratory of Molecular Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Schule lab, Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 1
The Raphael Recanati Genetics Institute, Rabin Medical Center 1 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Reproductive Health Research and Development, BGI Genomics 0 0 0 0 1 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 1

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