ClinVar Miner

Variants studied for anophthalmia-microphthalmia syndrome

Included ClinVar conditions (59):
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
257 80 933 234 283 2 1713

Gene and significance breakdown #

Total genes and gene combinations: 49
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC6 10 28 123 22 25 0 203
RAB3GAP2 6 1 125 37 21 1 182
BIVM-ERCC5, ERCC5 16 3 79 16 26 0 131
RAB18 5 0 80 5 29 0 119
BCOR 28 5 31 14 40 0 117
VSX2 8 0 75 34 19 0 114
STRA6 18 2 54 18 24 0 109
RAX 4 0 63 16 9 0 89
ELP4, PAX6 0 0 60 9 15 0 84
RAB3GAP1 21 1 24 5 8 0 59
OTX2 19 3 29 2 6 0 58
RAB3GAP1, ZRANB3 3 0 32 3 11 0 49
ERCC6, ERCC6-PGBD3 1 13 24 5 6 0 48
GDF6 4 0 23 5 4 0 36
SIX6 0 0 25 4 3 0 32
SOX2, SOX2-OT 24 1 4 0 2 0 31
BMP4 6 0 4 13 11 0 30
C1QTNF5, MFRP 4 1 13 7 1 0 26
RARB 4 6 8 3 6 0 26
PAX6 0 0 21 3 1 0 25
ERCC6, ERCC6-PGBD3, PGBD3 1 1 13 3 1 0 19
PRSS56 10 1 5 0 4 0 17
ALDH1A3, LOC101927751 2 1 2 4 4 0 13
VAX1 1 0 3 5 1 0 10
ERCC2 5 1 1 0 0 1 7
TENM3 6 2 0 0 0 0 6
ALDH1A3 1 0 0 1 3 0 5
ERCC1 2 1 2 0 0 0 5
GDF3 4 0 1 0 0 0 5
HCCS 4 0 1 0 0 0 5
LRBA, MAB21L2 5 4 0 0 0 0 5
NAA10 5 3 0 0 0 0 5
TBC1D20 5 0 0 0 0 0 5
ABCB6 2 0 2 0 0 0 4
COX7B 3 0 1 0 0 0 4
SOX2 4 0 0 0 0 0 4
LOC106014249, PAX6 0 0 3 0 0 0 3
NDUFB11 2 0 1 0 0 0 3
SHH 1 1 1 0 0 0 3
TMEM98 3 0 0 0 0 0 3
BMP4, LOC109433677 0 0 0 0 2 0 2
ERCC5 2 0 0 0 0 0 2
HMX1 2 0 0 0 0 0 2
RBP4 2 0 0 0 0 0 2
WNT7B 1 1 0 0 0 0 2
ERCC1, POLR1G 0 0 0 0 1 0 1
HMGB3 1 0 0 0 0 0 1
MYRF 1 0 0 0 0 0 1
SOX2, SOX2-OT, SOX2-SRR2 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 764 130 189 0 1073
Invitae 35 7 131 92 107 0 372
OMIM 184 0 0 0 0 0 184
Counsyl 4 41 30 6 0 0 81
Fulgent Genetics,Fulgent Genetics 9 0 12 0 0 0 21
GeneReviews 19 0 0 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 2 7 7 0 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 3 8 0 0 0 14
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 1 0 1 5 6 0 13
Mendelics 1 0 2 4 4 0 11
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 0 8 0 9
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 4 1 0 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 3 0 0 0 0 6
Baylor Genetics 4 1 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 0 4
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 3 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 3 0 0 0 0 3
Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 2 0 0 0 0 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 3 0 0 0 0 0 3
Eye Genetics Research Group,Children's Medical Research Institute 0 0 2 0 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 0 2 0 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 1 1 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 1 0 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 1 0 0 0 0 0 1
Department of Ophthalmology,Flinders Medical Centre 1 0 0 0 0 0 1
Human Genetics - Radboudumc,Radboudumc 0 1 0 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Division of Critical Care, Department of Pediatrics,Cardinal Glennon Children's Hospital 1 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 1 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.