ClinVar Miner

Variants in gene ABCA4

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 risk factor other not provided total
242 259 228 149 102 4 3 524 1066

Condition and significance breakdown #

Total conditions: 38
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
not provided 108 84 132 74 60 0 2 523 799
Stargardt disease 1 127 125 40 6 2 0 1 3 274
not specified 4 6 9 41 53 0 0 0 107
Retinitis Pigmentosa, Recessive 0 0 44 53 7 0 0 0 104
Cone-Rod Dystrophy, Recessive 0 0 43 53 7 0 0 0 103
Macular degeneration 0 0 42 54 7 0 0 0 103
Stargardt Disease, Recessive 0 2 40 53 7 0 0 0 102
Stargardt disease 42 39 5 0 0 0 0 2 82
Retinal dystrophy 9 30 5 0 0 0 0 0 43
Cone-rod dystrophy 3 25 9 3 0 0 0 0 0 36
ABCA4-Related Disorders 9 9 13 0 0 0 0 0 31
Retinitis pigmentosa 11 13 0 0 0 0 0 0 23
Macular dystrophy 7 12 1 1 0 0 0 0 20
Cone-rod dystrophy 3; Age-related macular degeneration 2; Stargardt disease 1; Retinitis pigmentosa 19 10 5 4 0 0 0 0 0 19
Retinitis pigmentosa 19 6 2 1 0 0 0 0 0 9
Inborn genetic diseases 1 2 4 0 0 0 0 0 7
Cone-rod degeneration 4 2 0 0 0 0 0 0 6
maculopathy 3 3 0 0 0 0 0 0 6
Cone-rod dystrophy 2 3 0 0 0 0 0 0 5
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 4 0 0 4
Age-related macular degeneration 2 3 0 0 0 0 0 0 0 3
Cone/cone-rod dystrophy 1 2 0 0 0 0 0 0 3
Abnormal macular morphology; Peripheral neuropathy 0 0 2 0 0 0 0 0 2
Abnormal retinal morphology 0 1 1 0 0 0 0 0 2
Bietti crystalline corneoretinal dystrophy 1 0 1 0 0 0 0 0 2
Bull's eye maculopathy 0 2 0 0 0 0 0 0 2
Cone-rod dystrophy 3; Stargardt disease 1; Retinitis pigmentosa 19 1 1 0 0 0 0 0 0 2
Congenital stationary night blindness 1 1 0 0 0 0 0 0 2
Leber congenital amaurosis 1 1 0 0 0 0 0 0 2
Progressive cone dystrophy (without rod involvement) 2 0 0 0 0 0 0 0 2
Retinal dystrophy, early-onset severe 2 0 0 0 0 0 0 0 2
Visual impairment; Central scotoma; Macular degeneration; Retinal atrophy 1 1 0 0 0 0 0 0 2
Visual impairment; Retinopathy 1 0 1 0 0 0 0 0 2
Vitreoretinopathy 2 0 0 0 0 0 0 0 2
Cone-rod dystrophy 3; Stargardt disease 1 0 1 0 0 0 0 0 0 1
Mandibulofacial dysostosis with mental deficiency 1 0 0 0 0 0 0 0 1
Stargardt disease; Cone-rod dystrophy 0 0 0 0 0 0 0 1 1
Visual loss; Blindness; Macular degeneration 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 49
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Retina International 0 0 0 0 0 0 0 519 519
GeneDx 88 53 34 37 57 0 0 0 269
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 67 83 27 0 0 0 0 0 177
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 44 4 63 4 31 0 2 0 148
Illumina Clinical Services Laboratory,Illumina 8 8 54 54 7 0 0 0 127
Invitae 0 0 0 54 36 0 0 0 90
NIHR Bioresource Rare Diseases, University of Cambridge 16 64 1 3 0 0 0 0 83
CeGaT Praxis fuer Humangenetik Tuebingen 0 24 50 4 0 0 0 0 78
Sharon lab,Hadassah-Hebrew University Medical Center 36 22 0 0 0 0 0 0 58
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 18 33 8 0 0 0 0 0 57
Mendelics 28 6 9 4 2 0 0 0 49
PreventionGenetics,PreventionGenetics 0 0 0 11 31 0 0 0 42
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 4 7 8 2 18 0 0 0 39
OMIM 36 0 0 0 0 4 0 0 37
Fulgent Genetics,Fulgent Genetics 10 5 4 0 0 0 0 0 19
Department of Ophthalmology and Visual Sciences Kyoto University 7 0 0 8 0 0 0 0 15
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 4 8 2 0 0 0 0 0 14
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 6 7 1 0 0 0 0 0 14
Human Genetics - Radboudumc,Radboudumc 5 5 2 0 0 0 0 0 12
GenomeConnect, ClinGen 0 0 0 0 0 0 0 10 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 4 0 0 0 0 0 8
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 5 2 0 0 0 0 0 0 7
Ambry Genetics 1 2 4 0 0 0 0 0 7
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 0 0 6 6
Broad Institute Rare Disease Group,Broad Institute 1 3 2 0 0 0 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 4 0 0 0 0 0 0 5
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 4 0 0 0 0 0 0 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 2 0 0 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 3 0 0 0 0 0 0 0 3
Rui Chen Lab,Baylor College of Medicine 3 0 0 0 0 0 0 0 3
Baylor Genetics 1 1 0 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 0 0 2
The Cell Therapy Center,The University of Jordan 2 0 0 0 0 0 0 0 2
Reproductive Health Research and Development,BGI Genomics 1 0 1 0 0 0 0 0 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 1 0 1
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 1 0 0 0 0 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Servicio Extremeño de Salud,Hospital de Mérida 1 0 0 0 0 0 0 0 1
Human Molecular Genetics Laboratory,Federal University of Parana 0 1 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 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.