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
486 456 780 227 103 4 3 524 1831

Condition and significance breakdown #

Total conditions: 44
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
not provided 325 149 534 151 59 0 2 523 1408
Retinal dystrophy 150 118 151 0 0 0 0 0 403
Stargardt disease 1 136 190 47 6 2 0 1 2 333
ABCA4-Related Disorders 9 9 153 34 10 0 0 0 215
not specified 3 5 8 41 53 0 0 0 105
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 52 41 5 0 0 0 0 2 93
Cone-rod dystrophy 3 26 14 7 0 0 0 0 0 46
Age-related macular degeneration 2 19 8 15 0 0 0 0 0 41
Retinitis pigmentosa 16 13 2 0 0 0 0 0 30
none provided 1 2 5 3 16 0 0 0 27
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
Cone-rod dystrophy 10 3 0 0 0 0 0 0 13
Retinitis pigmentosa 19 6 6 1 0 0 0 0 0 13
Autosomal recessive retinitis pigmentosa 11 0 0 0 0 0 0 0 11
Inborn genetic diseases 4 2 3 0 0 0 0 0 9
Isolated macular dystrophy 8 0 0 0 0 0 0 0 8
Cone dystrophy 5 2 0 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
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 0 0 0 0 0 4 0 0 4
Cone-rod dystrophy 3; Stargardt disease 1; Retinitis pigmentosa 19 1 2 0 0 0 0 0 0 3
Generalized choriocapillaris dystrophy 2 1 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
Benign concentric annular macular dystrophy 0 2 0 0 0 0 0 0 2
Bietti crystalline corneoretinal dystrophy 1 0 1 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
Stargardt Disease 3 0 1 1 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
Joubert syndrome 5 0 0 1 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: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 268 56 430 131 35 0 0 0 920
Retina International 0 0 0 0 0 0 0 519 519
Blueprint Genetics 148 91 146 0 0 0 0 0 385
GeneDx 88 53 34 37 57 0 0 0 269
Illumina Clinical Services Laboratory,Illumina 8 8 160 55 12 0 0 0 223
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 67 83 27 0 0 0 0 0 177
CeGaT Praxis fuer Humangenetik Tuebingen 84 23 55 5 0 0 0 0 167
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 44 4 63 4 31 0 2 0 148
Institute of Medical Molecular Genetics, University of Zurich 0 84 0 0 0 0 0 0 84
NIHR Bioresource Rare Diseases, University of Cambridge 16 64 1 3 0 0 0 0 83
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 43 13 0 0 0 0 0 0 56
Mendelics 28 6 9 4 2 0 0 0 49
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 8 11 4 19 0 0 0 46
Centre for Mendelian Genomics,University Medical Centre Ljubljana 19 9 17 0 0 0 0 0 43
PreventionGenetics, PreventionGenetics 0 0 0 11 31 0 0 0 42
OMIM 36 0 0 0 0 4 0 0 37
Molecular Genetics Laboratory,Institute for Ophthalmic Research 36 0 0 0 0 0 0 0 36
Ocular Genomics Institute, Massachusetts Eye and Ear 16 8 7 0 0 0 0 0 31
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 6 4 0 0 2 0 0 0 12
Human Genetics - Radboudumc,Radboudumc 5 5 2 0 0 0 0 0 12
Faculty of Health Sciences,Beirut Arab University 11 0 0 0 0 0 0 0 11
Department of Pathology and Laboratory Medicine,Sinai Health System 2 0 6 1 1 0 0 0 10
GenomeConnect, ClinGen 0 0 0 0 0 0 0 10 10
Ambry Genetics 4 2 3 0 0 0 0 0 9
Baylor Genetics 4 2 1 0 0 0 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 5 2 0 0 0 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 2 2 0 0 0 0 0 7
Broad Institute Rare Disease Group, Broad Institute 1 3 3 0 0 0 0 0 7
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 0 0 0 0 0 0 6 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 4 0 0 0 0 0 0 5
Department of Ophthalmology,California Pacific Medical Center 2 2 1 0 0 0 0 0 5
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 4 0 0 0 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 2 0 1 0 0 0 0 0 3
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
Johns Hopkins Genomics, Johns Hopkins University 2 1 0 0 0 0 0 0 3
Department of Genetics,Fundacion Jimenez Diaz University Hospital 0 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: 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
Moosajee Lab,UCL Institute of Ophthalmology 0 1 1 0 0 0 0 0 2
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 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
Nilou-Genome Lab 1 0 0 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 0 0 1

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