ClinVar Miner

Variants studied for anterior segment dysgenesis

Included ClinVar conditions (22):
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
95 15 119 65 41 1 332

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ELP4, PAX6 3 1 31 24 12 0 71
FOXC1 31 6 10 4 6 0 55
CYP1B1 5 0 31 4 6 1 47
PITX2 17 3 10 9 3 0 41
PAX6 22 0 7 10 2 0 40
PXDN 4 1 5 3 11 0 24
CYP1B1, RMDN2 0 0 15 3 0 0 18
FOXE3, LINC01389 2 2 0 0 1 0 5
LOC106014249, PAX6 0 0 4 0 0 0 4
CPAMD8 3 0 0 0 0 0 3
PITX3 0 0 3 0 0 0 3
​intergenic 1 0 1 0 0 0 2
PTCH1 0 2 0 0 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
CYP1B1, LOC110599580 0 0 1 0 0 0 1
DAB1 0 0 0 1 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
FOXE3 1 0 0 0 0 0 1
FREM1 0 0 0 1 0 0 1
PITRM1 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: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 94 48 20 0 162
Invitae 33 9 18 9 21 0 90
OMIM 35 0 1 0 0 0 36
Molecular Pathology, SA Pathology 20 1 5 0 0 0 26
Paul Sabatier University EA-4555, Paul Sabatier University 0 2 0 8 0 0 10
Fulgent Genetics 4 0 1 0 0 0 5
Eye Genetics Research Group,Children's Medical Research Institute 3 0 0 0 0 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 2
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 2 0 0 0 0 0 2
Genetics Department,University Hospital of Toulouse 0 2 0 0 0 0 2
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
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 1 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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