ClinVar Miner

Variants studied for anophthalmia-microphthalmia syndrome

Included ClinVar conditions (60):
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
317 95 1029 353 285 1 2001

Gene and significance breakdown #

Total genes and gene combinations: 91
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ERCC6 13 29 126 22 25 0 210
RAB3GAP2 6 1 131 41 22 1 193
VSX2 12 2 75 76 19 0 160
BCOR 32 5 45 23 40 0 144
BIVM-ERCC5, ERCC5 17 3 86 16 27 0 139
STRA6 24 3 58 20 24 0 122
RAB18 5 0 80 5 29 0 119
RAB3GAP1 26 1 57 8 19 0 111
RAX 4 0 67 19 9 0 96
ELP4, PAX6 0 0 60 9 15 0 84
OTX2 20 3 40 6 6 0 74
GDF6 4 0 44 15 4 0 67
SOX2, SOX2-OT 46 2 8 0 2 0 58
ERCC6, ERCC6-PGBD3 1 13 25 5 6 0 49
BMP4 7 0 6 14 11 0 33
SIX6 0 0 25 4 3 0 32
C1QTNF5, MFRP 7 1 13 7 1 0 29
RARB 4 7 9 4 6 0 29
PAX6 1 0 21 3 1 0 26
PRSS56 12 2 7 1 4 0 23
ALDH1A3 5 1 2 6 7 0 21
ERCC6, ERCC6-PGBD3, PGBD3 1 1 14 3 1 0 20
VAX1 1 0 3 6 1 0 11
ERCC2 5 1 4 0 0 0 10
LRBA, MAB21L2 5 5 4 0 0 0 10
TENM3 6 2 2 0 0 0 8
TBC1D20 5 0 2 0 0 0 7
HCCS 4 1 1 0 0 0 6
NAA10 6 3 0 0 0 0 6
COX7B 3 0 2 0 0 0 5
ERCC1 2 1 2 0 0 0 5
GDF3 4 0 1 0 0 0 5
ABCB6 2 0 2 0 0 0 4
NDUFB11 2 0 2 0 0 0 4
PTCH1 0 3 0 1 0 0 4
SOX2 4 0 0 0 0 0 4
ERCC5 2 1 0 0 0 0 3
LOC106014249, PAX6 0 0 3 0 0 0 3
RBP4 2 1 0 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
FAT4 0 0 0 2 0 0 2
HMX1 2 0 0 0 0 0 2
NDST2 0 0 0 2 0 0 2
NOTCH1 0 0 0 2 0 0 2
RPGRIP1 0 0 0 2 0 0 2
TSHZ2 0 0 0 2 0 0 2
WNT7B 1 1 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ABCC5, ABCF3, ALG3, AP2M1, ATP11B, B3GNT5, CAMK2N2, CHRD, CLCN2, DCUN1D1, DVL3, ECE2, EIF2B5, EIF4G1, EPHB3, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MAGEF1, MAP6D1, MCCC1, MCF2L2, MIR1224, PARL, POLR2H, PSMD2, SOX2, SOX2-OT, THPO, VPS8, VWA5B2, YEATS2 1 0 0 0 0 0 1
ADAM17 0 0 0 1 0 0 1
ARR3, RAB41 0 0 0 1 0 0 1
ASIC2, C17orf75, CDK5R1, COPRS, LRRC37B, MYO1D, PSMD11, RHBDL3, RHOT1, SPACA3, SUZ12, TMEM98, UTP6, ZNF207 1 0 0 0 0 0 1
ATP11B, B3GNT5, DCUN1D1, KLHL24, KLHL6, LAMP3, MAP6D1, MCCC1, MCF2L2, PARL, SOX2, SOX2-OT, YEATS2 1 0 0 0 0 0 1
ATP6AP2, BCOR 0 0 1 0 0 0 1
B3GNT5, LAMP3, MCF2L2 1 0 0 0 0 0 1
CCDC39, DNAJC19, FXR1, SOX2, SOX2-OT, TTC14 1 0 0 0 0 0 1
CDH1 0 0 0 1 0 0 1
CEP83, PLXNC1 0 0 0 1 0 0 1
CHRD 0 0 0 1 0 0 1
CYP26C1 0 0 0 1 0 0 1
DAB1 0 0 0 1 0 0 1
DICER1 0 0 0 1 0 0 1
EFHD1 0 0 0 1 0 0 1
ERCC1, POLR1G 0 0 0 0 1 0 1
FAT1 0 0 0 1 0 0 1
FGFR3 0 0 0 1 0 0 1
FRAS1 0 0 0 1 0 0 1
GLI2 0 0 0 1 0 0 1
HMGB3 1 0 0 0 0 0 1
IFT172 0 0 0 1 0 0 1
IFT172, KRTCAP3 0 0 0 1 0 0 1
LOC100507346, PTCH1 0 1 0 0 0 0 1
MAP3K1 0 0 0 1 0 0 1
MCF2L2 1 0 0 0 0 0 1
MITF 0 0 0 1 0 0 1
MYO1C 0 0 0 1 0 0 1
MYRF 1 0 0 0 0 0 1
NOTCH4 0 0 0 1 0 0 1
NR5A2 0 0 0 1 0 0 1
PFKP 0 0 0 1 0 0 1
SALL3 0 0 0 1 0 0 1
SEZ6L2 0 0 0 1 0 0 1
SFRP2 0 0 0 1 0 0 1
SOX14 0 0 0 1 0 0 1
SOX2, SOX2-OT, SOX2-SRR2 1 0 0 0 0 0 1
SULF1 0 0 0 1 0 0 1
TAMALIN 0 0 0 1 0 0 1
VAX2 0 0 0 1 0 0 1
WNT7A 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 768 131 189 0 1078
Invitae 43 8 187 170 107 0 515
OMIM 185 0 0 0 0 0 185
Counsyl 4 41 30 6 0 0 81
Paul Sabatier University EA-4555, Paul Sabatier University 7 5 0 40 0 0 52
Baylor Genetics 13 2 25 0 0 0 40
Anophthalmia/Microphthalmia Research Registry,Einstein Medical Center Philadelphia 24 0 2 0 0 0 26
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 10 0 1 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 5 1 0 0 0 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 3 0 0 0 0 6
Genetics Department, University Hospital of Toulouse 0 4 1 0 0 0 5
Institute of Medical Molecular Genetics, University of Zurich 4 0 0 0 0 0 4
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
Institute of Human Genetics, University of Leipzig Medical Center 1 0 2 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
Service de Génétique Moléculaire,Hôpital Robert Debré 1 1 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 2 0 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 0 1 0 0 0 2
Clinical Genomics Program, Stanford Medicine 1 0 1 0 0 0 2
Medical Genetics Laboratory, West China Hospital, Sichuan University 2 0 0 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 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
Kasturba Medical College, Manipal University 0 1 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 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
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: 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
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 0 0 0 1 0 1
Breda Genetics srl 0 0 1 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
Medicover Genetics GmbH,Medicover Humangenetik Berlin-Lichtenberg MVZ 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences 1 0 0 0 0 0 1

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