ClinVar Miner

Variants studied for coloboma, ocular, autosomal dominant

Included ClinVar conditions (19):
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
24 16 14 1 0 55

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PAX6 11 2 3 1 17
CYP1B1 0 0 4 0 4
FZD5 1 3 0 0 4
TMEM67 1 3 0 0 4
WDR37 0 4 0 0 4
PRR12 3 0 0 0 3
BFSP1 0 0 2 0 2
CILK1 0 0 2 0 2
RBP4 1 1 0 0 2
BAG3, CACUL1, CASC2, DENND10, EIF3A, EMX2, EMX2OS, FAM204A, GRK5, INPP5F, KCNK18, MCMBP, NANOS1, PDZD8, PLPP4, PRDX3, PRLHR, RAB11FIP2, RGS10, SEC23IP, SFXN4, SLC18A2, TIAL1, VAX1 0 0 1 0 1
CAPN15 0 1 0 0 1
CDK5RAP2 0 0 1 0 1
CDON 0 1 0 0 1
CHD7 1 0 0 0 1
ELP4, PAX6 1 0 0 0 1
FIBP 0 1 0 0 1
MYH10 1 0 0 0 1
PAX2 1 0 0 0 1
RARB 1 0 0 0 1
SLC16A12 0 0 1 0 1
TFAP2A 1 0 0 0 1
YAP1 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign total
OMIM 11 0 0 0 11
Genetics Department, University Hospital of Toulouse 4 4 0 0 8
Eye Genetics Research Group, Children's Medical Research Institute 0 0 7 0 7
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 3 0 0 5
Fulgent Genetics, Fulgent Genetics 2 0 1 1 4
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health 0 4 0 0 4
Baylor Genetics 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 2 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 1 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1
Fundació de Recerca de l'Institut de Microcirurgia Ocular 1 0 0 0 1
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 1

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