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
125 206 834 853 298 2 13 2087

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 71 118 702 790 265 0 0 1846
Brain small vessel disease 1 with or without ocular anomalies 38 45 93 44 91 0 8 276
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 12 17 62 21 91 0 3 203
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 1 4 43 62 1 0 0 111
COL4A1-related condition 0 6 33 62 7 0 0 108
not specified 0 0 17 16 44 0 0 76
Porencephalic cyst 0 0 23 24 13 0 0 60
Inborn genetic diseases 4 4 39 8 0 0 0 55
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 7 4 3 0 0 0 0 13
Congenital anomaly of kidney and urinary tract 0 10 0 0 0 0 0 10
COL4A1 or COL4A2-related cerebral small vessel disease 1 2 6 0 0 0 0 9
COL4A1-related disorder 1 2 0 0 0 0 1 4
Hemorrhage, intracerebral, susceptibility to 0 0 1 1 0 2 0 4
See cases 1 1 2 0 0 0 0 4
Optic nerve hypoplasia 1 0 2 0 0 0 0 3
Vascular dementia 0 0 3 0 0 0 0 3
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies 1 0 0 0 0 0 1 2
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Schizencephaly; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity 0 0 2 0 0 0 0 2
Cerebral palsy 1 1 0 0 0 0 0 2
Microcephaly 0 1 1 0 0 0 0 2
Retinal arterial tortuosity 1 0 1 0 0 0 0 2
Abnormal cerebral morphology 1 0 0 0 0 0 0 1
Abnormal corpus callosum morphology; Intraventricular hemorrhage 1 0 0 0 0 0 0 1
Anterior segment dysgenesis 0 1 0 0 0 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 0 1 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
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; Abnormal cerebral cortex morphology; Colpocephaly 0 1 0 0 0 0 0 1
Developmental cataract 0 1 0 0 0 0 0 1
HANAC-like syndrome 0 1 0 0 0 0 0 1
Irido-corneo-trabecular dysgenesis 1 0 0 0 0 0 0 1
Keratoconus 0 1 0 0 0 0 0 1
Porencephaly 1 0 0 0 0 0 0 1
Seizure 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 99
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 47 75 547 679 101 0 0 1449
GeneDx 22 20 126 91 200 0 0 459
Illumina Laboratory Services, Illumina 1 1 67 61 88 0 0 163
CeGaT Center for Human Genetics Tuebingen 8 11 48 68 11 0 0 146
PreventionGenetics, part of Exact Sciences 0 6 33 63 30 0 0 132
Fulgent Genetics, Fulgent Genetics 1 3 45 62 1 0 0 112
Athena Diagnostics Inc 3 4 15 3 37 0 0 62
Revvity Omics, Revvity 1 8 50 2 0 0 0 61
Ambry Genetics 4 4 39 8 0 0 0 55
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 3 11 32 0 0 48
Eurofins Ntd Llc (ga) 0 0 16 4 11 0 0 31
OMIM 26 0 0 0 0 2 0 28
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 20 1 0 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 18 0 0 22
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 0 18 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 3 10 5 0 0 0 19
Baylor Genetics 5 6 8 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 5 9 0 0 0 0 16
Institute of Human Genetics, University of Leipzig Medical Center 2 6 6 0 0 0 0 14
3billion 3 4 6 0 0 0 0 13
GeneReviews 0 0 0 0 0 0 11 11
Mayo Clinic Laboratories, Mayo Clinic 0 1 10 0 0 0 0 11
Yale Center for Mendelian Genomics, Yale University 0 11 0 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 9 0 0 9
MGZ Medical Genetics Center 1 1 5 0 0 0 0 7
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 5 2 0 0 0 0 0 7
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
Mendelics 2 3 0 0 1 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 2 0 0 6
New York Genome Center 0 0 6 0 0 0 0 6
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 2 0 0 0 0 4
Centogene AG - the Rare Disease Company 0 2 2 0 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 2 2 0 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 2 1 0 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 2 0 0 0 0 3
Myllykangas group, University of Helsinki 0 0 3 0 0 0 0 3
Undiagnosed Diseases Network, NIH 1 2 0 0 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 0 0 0 0 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 1 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 1 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 1 0 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 1 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 0 0 2
Neurogenetics Research Program, University of Adelaide 1 1 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 0 0 2
Molecular Medicine, University of Pavia 0 1 1 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 1 1 0 0 0 0 2
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
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 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 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 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
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department, Hospital San Pedro 1 0 0 0 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 0 1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 0 1 0 0 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 0 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 0 1

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