ClinVar Miner

Variants in gene ABCA4

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Gene type:
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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
203 232 207 94 54 4 3 523 944

Condition and significance breakdown #

Total conditions: 34
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
not provided 102 80 117 11 8 0 2 523 702
Stargardt disease 1 103 119 30 2 0 0 1 2 237
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
not specified 0 0 3 40 52 0 0 0 90
Stargardt disease 18 24 5 0 0 0 0 0 46
Retinal dystrophy 9 30 5 0 0 0 0 0 43
Cone-rod dystrophy 3 28 7 1 0 0 0 0 0 34
ABCA4-Related Disorders 9 9 13 0 0 0 0 0 31
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 9 10 0 0 0 0 0 0 19
Retinitis pigmentosa 19 8 2 1 0 0 0 0 0 11
Inborn genetic diseases 1 2 4 0 0 0 0 0 7
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
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
Visual loss; Blindness; Macular degeneration 1 0 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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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 81 53 34 27 35 0 0 0 230
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
NIHR Bioresource Rare Diseases,University of Cambridge 16 64 1 3 0 0 0 0 83
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 18 33 8 0 0 0 0 0 57
CeGaT Praxis fuer Humangenetik Tuebingen 0 19 32 3 0 0 0 0 54
PreventionGenetics 0 0 0 11 31 0 0 0 42
OMIM 36 0 0 0 0 4 0 0 37
Fulgent Genetics 10 5 4 0 0 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 3 2 1 12 0 0 0 18
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
Human Genetics - Radboudumc,Radboudumc 5 5 2 0 0 0 0 0 12
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 5 5 1 0 0 0 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 3 2 4 0 0 0 0 0 8
Ambry Genetics 1 2 4 0 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 0 7 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
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 1 0 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 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
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 Cell Therapy Center,The University of Jordan 1 0 0 0 0 0 0 0 1

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