ClinVar Miner

Variants in gene COL4A1

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Minimum submission review status: Collection method:
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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 not provided total
56 53 172 116 111 2 2 424

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 17 27 82 58 48 0 0 219
Brain small vessel disease 1 with or without ocular anomalies 21 8 60 17 89 0 0 194
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10 6 56 20 90 0 0 182
Brain small vessel disease with hemorrhage 3 4 19 28 23 0 0 77
Acquired porencephaly 0 0 23 24 13 0 0 60
not specified 0 0 8 10 30 0 0 48
Inborn genetic diseases 4 4 4 0 0 0 0 12
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 4 0 2 0 0 0 0 6
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies; Schizencephaly; Hemorrhage, intracerebral, susceptibility to; Retinal arteries, tortuosity of 0 0 3 0 0 0 0 3
Optic nerve hypoplasia 1 0 2 0 0 0 0 3
Hemorrhage, intracerebral, susceptibility to 0 0 0 0 0 2 0 2
Microcephaly 0 1 1 0 0 0 0 2
Retinal arteries, tortuosity of 1 0 1 0 0 0 0 2
Vascular dementia 0 0 2 0 0 0 0 2
Abnormality of the corpus callosum; Intraventricular hemorrhage 1 0 0 0 0 0 0 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease 1 with or without ocular anomalies 1 0 0 0 0 0 0 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies 0 0 0 0 0 0 1 1
Anterior segment dysgenesis 0 1 0 0 0 0 0 1
Brain small vessel disease 1 with or without ocular anomalies; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 1 0 0 0 0 0 1
Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 0 0 0 1
COL4A1-Related Disorder 0 0 0 0 0 0 1 1
Cerebral calcification; Intracranial hemorrhage 0 1 0 0 0 0 0 1
Chronic kidney disease 0 0 1 0 0 0 0 1
Corpus callosum, agenesis of; Abnormality of the cerebral cortex; Colpocephaly 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 1 0 67 61 89 0 0 163
Invitae 0 5 7 48 45 0 0 105
GeneDx 10 14 20 4 17 0 0 65
Athena Diagnostics Inc 2 3 12 2 32 0 0 51
CeGaT Praxis fuer Humangenetik Tuebingen 4 4 24 10 0 0 0 42
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 16 4 11 0 0 31
OMIM 26 0 0 0 0 2 0 28
PreventionGenetics, PreventionGenetics 0 0 0 2 23 0 0 25
Baylor Genetics 3 3 7 0 0 0 0 13
Ambry Genetics 4 4 4 0 0 0 0 12
GeneReviews 11 0 0 0 0 0 0 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 4 1 2 0 0 7
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 2 0 0 6
Mendelics 1 2 0 0 2 0 0 5
Molecular Biology Laboratory, Fundació Puigvert 2 2 0 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 2 1 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 1 0 0 0 0 2
Myllykangas group,University of Helsinki 0 0 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 1 1 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Eye Genetics Research Group,Children's Medical Research Institute 0 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 1 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences,Kyushu University 0 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1

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