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 |
363
|
107
|
757
|
449
|
177
|
4
|
1822
|
Gene and significance breakdown #
Total genes and gene combinations: 47
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
FOXC1
|
78
|
15
|
205
|
108
|
21
|
0 |
422
|
PAX6
|
131
|
22
|
99
|
108
|
14
|
0 |
368
|
FOXE3, LINC01389
|
22
|
10
|
158
|
87
|
14
|
1
|
286
|
PXDN
|
17
|
3
|
54
|
64
|
60
|
0 |
198
|
CYP1B1
|
26
|
26
|
109
|
6
|
13
|
1
|
176
|
PITX2
|
25
|
6
|
47
|
17
|
26
|
0 |
113
|
ELP4, PAX6
|
8
|
1
|
33
|
30
|
11
|
0 |
83
|
ITPR1
|
10
|
3
|
22
|
9
|
8
|
2
|
52
|
FOXC1, LOC129995601
|
17
|
4
|
12
|
7
|
1
|
0 |
40
|
CYP1B1, LOC128772254
|
6
|
1
|
3
|
1
|
4
|
0 |
14
|
CPAMD8
|
3
|
4
|
5
|
0 |
0 |
0 |
12
|
ITPR1, LOC126806590
|
5
|
3
|
1
|
0 |
2
|
0 |
10
|
LOC106014249, PAX6
|
0 |
0 |
4
|
1
|
0 |
0 |
5
|
GBF1, PITX3
|
1
|
0 |
1
|
0 |
1
|
0 |
3
|
PTCH1
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
intergenic
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
COL4A1
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
FOXC1, FOXF2, FOXQ1, GMDS
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
GJA8
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
PITRM1
|
0 |
0 |
0 |
1
|
1
|
0 |
2
|
ADAMTS17
|
1
|
0 |
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 |
0 |
1
|
ARHGAP35
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
BCOR, LOC126863239
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
BMP4
|
0 |
1
|
0 |
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 |
0 |
1
|
CHST5
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
CMPK1, FOXE3, STIL
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CYP1B1, LOC110599580
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
DAB1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
DACT1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
DCDC1, DNAJC24, ELP4, IMMP1L, PAX6, RCN1, WT1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ELP4, LOC105980003, LOC105980073, LOC126861176, LOC130005471, PAX6, PAX6DRR
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ELP4, LOC106007485, LOC106007493, PAX6
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
EPHB2
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
EXOC2, FOXC1, FOXF2, FOXQ1, GMDS, HUS1B
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FAT1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FAT4
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FOXC1, LOC129995600
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
FRAS1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
FREM1
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
GPR180, TGDS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC106007493, PAX6
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
PRPF8
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
RARG
|
0 |
0 |
0 |
1
|
0 |
0 |
1
|
RBP4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Invitae
|
229
|
33
|
512
|
386
|
113
|
0 |
1273
|
Illumina Laboratory Services, Illumina
|
0 |
1
|
181
|
44
|
46
|
0 |
264
|
Fulgent Genetics, Fulgent Genetics
|
12
|
3
|
38
|
13
|
4
|
0 |
70
|
Baylor Genetics
|
28
|
26
|
12
|
0 |
0 |
0 |
66
|
OMIM
|
42
|
0 |
0 |
0 |
0 |
0 |
42
|
Human Developmental Genetics Laboratory, Medical College of Wisconsin
|
30
|
8
|
0 |
0 |
0 |
0 |
38
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
29
|
0 |
29
|
Eye Genetics Research Group, Children's Medical Research Institute
|
13
|
8
|
0 |
0 |
0 |
0 |
20
|
Genetics and Molecular Pathology, SA Pathology
|
15
|
1
|
3
|
0 |
0 |
0 |
19
|
Paul Sabatier University EA-4555, Paul Sabatier University
|
0 |
3
|
0 |
11
|
0 |
0 |
14
|
Genetics Department, University Hospital of Toulouse
|
7
|
5
|
2
|
0 |
0 |
0 |
14
|
3billion
|
2
|
5
|
6
|
0 |
0 |
0 |
13
|
Molecular Medicine, University of Pavia
|
2
|
3
|
1
|
0 |
0 |
0 |
6
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
2
|
3
|
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
4
|
0 |
0 |
0 |
5
|
DBGen Ocular Genomics
|
1
|
2
|
2
|
0 |
0 |
0 |
5
|
Mendelics
|
1
|
0 |
0 |
0 |
3
|
0 |
4
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
1
|
1
|
2
|
0 |
0 |
0 |
4
|
Revvity Omics, Revvity
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Institute of Medical Molecular Genetics, University of Zurich
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Suma Genomics
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
PreventionGenetics, part of Exact Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University of Goettingen
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Laboratory, Institute for Ophthalmic Research
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MGZ Medical Genetics Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Shanghai First Maternity and Infant Hospital, Tongji University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory of NeuroGenetics and Regenerative Medicine, University of Maryland School of Medicine
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Undiagnosed Diseases Network, NIH
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego
|
1
|
0 |
0 |
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
|
Laboratory of Molecular Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Schule lab, Hertie Institute for Clinical Brain Research
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
The Raphael Recanati Genetics Institute, Rabin Medical Center
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Breda Genetics srl
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Johns Hopkins Genomics, Johns Hopkins University
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
0 |
0 |
0 |
1
|
0 |
1
|
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Molecular Diagnosis Center for Deafness
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Rasad Genetic Department, Rasad Pathobiology and Genetic Laboratory
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Department of Ophthalmology, Southwest Medical University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GenomeConnect - Brain Gene Registry
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
Medizinische Genetik Mainz, Limbach Genetics GmbH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Coban-Akdemir Lab, University of Texas Health Science Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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Institutes of Health independently verfies the submitted
information. If you have questions about the information
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