ClinVar Miner

Variants studied for anterior segment dysgenesis

Included ClinVar conditions (32):
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
141 20 352 113 34 3 658

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
WT1 8 1 108 31 6 0 153
LOC107982234, WT1 3 0 101 18 2 0 124
ELP4, PAX6 4 1 31 24 12 0 72
FOXC1 31 6 14 1 2 0 53
PAX6 27 0 11 10 1 0 49
CYP1B1 5 0 32 4 6 1 48
PITX2 21 3 11 9 1 0 45
PXDN 9 1 6 2 3 0 21
CYP1B1, RMDN2 0 0 15 3 0 0 18
ITPR1 14 2 2 0 0 1 17
FOXE3, LINC01389 3 3 9 0 1 1 16
PITX3 1 0 4 0 0 0 5
LOC106014249, PAX6 0 0 4 0 0 0 4
CPAMD8 3 0 0 0 0 0 3
PTCH1 0 3 0 0 0 0 3
​intergenic 1 0 1 0 0 0 2
LOC106707172, LOC107982234, WT1 2 0 0 0 0 0 2
PITRM1 0 0 1 1 0 0 2
ADARB1, C21orf58, COL18A1, COL6A1, COL6A2, DIP2A, FAM207A, FTCD, LINC00163, LINC00315, LINC00334, LSS, MCM3AP, PCBP3, PCNT, POFUT2, PRMT2, S100B, SLC19A1, SPATC1L, YBEY 1 0 0 0 0 0 1
ANO3, ANO5, ARL14EP, BBOX1, BDNF, CCDC179, CCDC34, CCDC73, CSTF3, DCDC1, DEPDC7, DNAJC24, EIF3M, ELP4, FANCF, FIBIN, FSHB, GAS2, IMMP1L, KCNA4, KIF18A, LGR4, LIN7C, LINC00294, LUZP2, METTL15, MIR610, MPPED2, MUC15, NELL1, PAX6, PRRG4, QSER1, RCN1, SLC17A6, SLC5A12, SVIP, TCP11L1, WT1 1 0 0 0 0 0 1
ARL14EP, CCDC73, DCDC1, DNAJC24, EIF3M, ELP4, FSHB, IMMP1L, KCNA4, MPPED2, PAX6, RCN1, WT1 1 0 0 0 0 0 1
CHST5 0 0 0 1 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 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC105980073, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC106007485, LOC106007493, PAX6 1 0 0 0 0 0 1
ENPEP, PITX2 1 0 0 0 0 0 1
EPHB2 0 0 0 1 0 0 1
FAT1 0 0 0 1 0 0 1
FAT4 0 0 0 1 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 0 1
FRAS1 0 0 0 1 0 0 1
FREM1 0 0 0 1 0 0 1
PRDM5 0 0 1 0 0 0 1
PRPF8 0 0 0 1 0 0 1
RARG 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 9 195 29 5 0 296
Illumina Clinical Services Laboratory,Illumina 0 0 150 73 27 0 250
OMIM 45 0 1 0 0 0 46
Molecular Pathology, SA Pathology 20 1 5 0 0 0 26
Paul Sabatier University EA-4555, Paul Sabatier University 0 3 0 11 0 0 14
Fulgent Genetics,Fulgent Genetics 5 0 4 0 0 0 9
Genetics Department, University Hospital of Toulouse 5 2 0 0 0 0 7
Mendelics 0 0 2 0 2 0 4
Eye Genetics Research Group,Children's Medical Research Institute 3 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Baylor Genetics 1 1 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Department of Genetics,Fundacion Jimenez Diaz University Hospital 2 0 0 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, Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 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
Schule lab,Hertie Institute for Clinical Brain Research 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 1
The Raphael Recanati Genetics Institute,Rabin Medical Center 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1

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