ClinVar Miner

Variants studied for Axenfeld-Rieger syndrome

Included ClinVar conditions (5):
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 total
143 30 262 125 49 599

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FOXC1 69 14 201 108 21 409
PITX2 52 11 49 10 27 144
FOXC1, LOC129995601 16 4 11 7 1 38
​intergenic 1 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 1
ALPK1, ANK2, AP1AR, AP1AR-DT, FAM241A, LARP7, LINC02945, LOC105377366, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC112935973, LOC112935974, LOC112935975, LOC123477806, LOC123477807, LOC123477808, 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, LOC132089000, LOC132089001, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, NEUROG2, PITX2, TIFA, ZGRF1 0 1 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 1
ENPEP, PITX2 1 0 0 0 0 1
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B 1 0 0 0 0 1
FOXC1, FOXF2, FOXQ1, GMDS 1 0 0 0 0 1
PRDM5 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 71 9 211 124 30 445
Illumina Laboratory Services, Illumina 0 1 38 0 25 64
Human Developmental Genetics Laboratory, Medical College of Wisconsin 45 9 0 0 0 54
Fulgent Genetics, Fulgent Genetics 0 0 25 2 0 27
Genetics and Molecular Pathology, SA Pathology 20 1 5 0 0 26
OMIM 14 0 1 0 0 15
3billion 1 2 0 0 0 3
DBGen Ocular Genomics 0 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 2
MGZ Medical Genetics Center 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 1
Mendelics 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 1
Shanghai First Maternity and Infant Hospital, Tongji University 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Biocant - Biotechnology Innovation Center 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 1
Hunan Clinical Research Center of Ophthalmic Disease, The Second Xiangya Hospital 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 1
Molecular Diagnosis Center for Deafness 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Suma Genomics 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 1
Department of Ophthalmology, Southwest Medical University 1 0 0 0 0 1

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