ClinVar Miner

Variants studied for aniridia 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
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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
222 35 65 30 36 1 382

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PAX6 189 33 25 12 8 1 263
ELP4, PAX6 11 1 32 16 28 0 86
LOC106014249, PAX6 0 0 5 0 0 0 5
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6 4 0 0 0 0 0 4
DCDC1, DNAJC24, ELP4, IMMP1L 3 0 0 0 0 0 3
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, PAX6DRR, PAX6_HS8 2 0 0 0 0 0 2
ELP4, LOC106007485, LOC106007493, PAX6 2 0 0 0 0 0 2
ELP4, PAX6DRR 1 0 1 0 0 0 2
ALPK1, ANK2, AP1AR, ARSJ, CAMK2D, FAM241A, LARP7, LOC110120703, LOC110120805, LOC110120819, LOC111591508, LOC112935973, LOC112935974, LOC112935975, LOC112935976, MIR1243, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR8082, NEUROG2, TIFA, ZGRF1 1 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 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980003, LOC105980005, LOC105980073, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1 1 0 0 0 0 0 1
DNAJC24, ELP4, IMMP1L, LOC105980005, LOC105980073, PAX6DRR, PAX6_HS8 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC105980073, PAX6, PAX6DRR 1 0 0 0 0 0 1
ELP4, LOC105980003, LOC106007485, LOC106007493, LOC106014249, PAX6 1 0 0 0 0 0 1
FOXC1, GMDS 1 0 0 0 0 0 1
GLIS3 0 0 0 1 0 0 1
KIF21A 0 0 0 1 0 0 1
LOC106007493, PAX6 0 1 0 0 0 0 1
LOC107982234, WT1 0 0 1 0 0 0 1
SOX2, SOX2-OT 0 0 1 0 0 0 1
WT1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Wessex Regional Genetics Laboratory,Salisbury District Hospital 109 24 2 0 0 0 135
Illumina Clinical Services Laboratory,Illumina 0 0 37 19 34 0 89
Invitae 56 4 14 10 3 0 87
Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics 40 6 2 0 0 0 48
OMIM 16 0 0 0 0 0 16
EVA,EMBL-EBI 11 0 0 0 0 0 11
Molecular Pathology, SA Pathology 9 0 0 0 0 0 9
Genetics Department,University Hospital of Toulouse 4 1 3 0 0 0 8
Department of Genetics,Fundacion Jimenez Diaz University Hospital 6 0 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 4
Mendelics 0 0 2 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 2
Baylor Genetics 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 1 0 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Sharon lab,Hadassah-Hebrew University Medical Center 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1

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