ClinVar Miner

Variants in gene COL4A1

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
174 309 1217 1109 306 86 2871

Condition and significance breakdown #

Total conditions: 69
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 106 159 960 1043 273 0 2399
Brain small vessel disease 1 with or without ocular anomalies 47 64 101 18 93 8 316
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 2 37 177 70 2 0 288
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 12 28 70 17 92 3 219
Inborn genetic diseases 9 7 155 44 0 0 215
COL4A1-related disorder 11 22 52 77 7 1 168
not specified 0 0 43 50 60 0 148
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 7 4 9 0 0 0 19
Melanoma 0 0 0 0 0 15 15
Nonpapillary renal cell carcinoma 0 0 0 0 0 13 13
Congenital anomaly of kidney and urinary tract 0 10 0 0 0 0 10
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
COL4A1 or COL4A2-related cerebral small vessel disease 1 2 5 0 0 0 8
Sarcoma 0 0 0 0 0 8 8
Autosomal dominant COL4A1-related disorders 2 5 0 0 0 0 7
Familial cancer of breast 0 0 0 0 0 7 7
Gastric cancer 0 0 0 0 0 6 6
Thymoma 0 0 0 0 0 6 6
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Cervical cancer 0 0 0 0 0 5 5
Hemorrhage, intracerebral, susceptibility to 2 1 1 1 0 0 5
Malignant tumor of esophagus 0 0 0 0 0 5 5
Papillary renal cell carcinoma type 1 0 0 0 0 0 5 5
Clear cell carcinoma of kidney 0 0 0 0 0 4 4
See cases 1 1 2 0 0 0 4
Uterine carcinosarcoma 0 0 0 0 0 4 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 2 1 0 0 0 3
Intellectual disability 0 0 2 1 0 0 3
Lung cancer 0 0 0 0 0 3 3
Optic nerve hypoplasia 1 0 2 0 0 0 3
Vascular dementia 0 0 3 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 1 2
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 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 2
Brain small vessel disease 1 with or without ocular anomalies; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 1 1 0 0 0 0 2
Cerebral palsy 1 1 0 0 0 0 2
Colon adenocarcinoma 0 0 0 0 0 2 2
Hepatocellular carcinoma 0 0 0 0 0 2 2
Microcephaly 0 1 1 0 0 0 2
Retinal arterial tortuosity 1 0 1 0 0 0 2
Abnormal cerebral morphology 1 0 0 0 0 0 1
Abnormal corpus callosum morphology; Intraventricular hemorrhage 1 0 0 0 0 0 1
Actin accumulation myopathy 0 1 0 0 0 0 1
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Anterior segment dysgenesis 0 1 0 0 0 0 1
Benign familial hematuria 0 0 1 0 0 0 1
Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity 0 1 0 0 0 0 1
Cerebral calcification; Intracranial hemorrhage 0 1 0 0 0 0 1
Cholangiocarcinoma 0 0 0 0 0 1 1
Chronic kidney disease 0 0 1 0 0 0 1
Corpus callosum, agenesis of; Abnormal cerebral cortex morphology; Colpocephaly 0 1 0 0 0 0 1
Developmental cataract 0 1 0 0 0 0 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 0 1
Fetal anomalies with a likely genetic cause 0 0 1 0 0 0 1
HANAC-like syndrome 0 1 0 0 0 0 1
Irido-corneo-trabecular dysgenesis 1 0 0 0 0 0 1
Keratoconus 0 1 0 0 0 0 1
Kidney failure 0 0 1 0 0 0 1
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Metabolic disease 0 1 0 0 0 0 1
Pancreatic adenocarcinoma 0 0 0 0 0 1 1
Porencephaly 1 0 0 0 0 0 1
Primary membranoproliferative glomerulonephritis 0 0 0 0 1 0 1
Proteinuria 0 0 1 0 0 0 1
Retinal arteries 0 1 0 0 0 0 1
Seizure 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 121
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 71 108 738 909 104 0 1930
GeneDx 38 22 236 91 202 0 589
Fulgent Genetics, Fulgent Genetics 2 35 177 70 2 0 286
Ambry Genetics 9 7 155 44 0 0 215
CeGaT Center for Human Genetics Tuebingen 8 14 64 106 9 0 201
PreventionGenetics, part of Exact Sciences 2 9 47 78 31 0 167
Illumina Laboratory Services, Illumina 2 1 51 17 89 0 160
Breakthrough Genomics, Breakthrough Genomics 0 0 1 36 111 0 148
Revvity Omics, Revvity 1 12 102 7 0 0 122
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 4 36 36 0 0 78
Mayo Clinic Laboratories, Mayo Clinic 1 3 17 16 38 0 75
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 74 74
Athena Diagnostics 3 4 16 3 42 0 68
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 3 11 33 0 49
Eurofins Ntd Llc (ga) 0 0 16 4 12 0 32
OMIM 28 0 2 0 0 0 30
3billion 6 7 15 0 0 0 28
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 8 9 0 0 0 25
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 2 20 1 0 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 3 18 0 22
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 1 0 19 0 21
Institute of Human Genetics, University of Leipzig Medical Center 5 8 7 0 0 0 20
MVZ Medizinische Genetik Mainz 0 12 8 0 0 0 20
Baylor Genetics 5 7 8 0 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 7 5 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 11 0 0 0 11
GeneReviews 0 0 0 0 0 11 11
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 3 4 4 0 0 0 11
Yale Center for Mendelian Genomics, Yale University 0 11 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 10 0 10
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 6 1 1 0 9
Variantyx, Inc. 2 7 0 0 0 0 9
Institute of Human Genetics Munich, TUM University Hospital 5 3 0 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 1 2 0 7
Gharavi Laboratory, Columbia University 0 0 7 0 0 0 7
MGZ Medical Genetics Center 1 1 5 0 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 3 2 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 4 2 0 6
Mendelics 2 3 0 0 1 0 6
New York Genome Center 0 0 6 0 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 1 2 2 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 0 3 2 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 4 1 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 4 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 1 1 3 0 0 0 5
Neuberg Centre For Genomic Medicine, NCGM 2 1 2 0 0 0 5
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 2 2 0 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 2 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 3 0 0 0 0 4
MVZ Martinsried, Medicover Genetics 1 2 1 0 0 0 4
Molecular Biology Laboratory, Fundació Puigvert 2 2 0 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 3 0 0 0 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 4 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 1 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 1 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 2 0 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 2 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 1 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 1 0 0 0 0 3
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 3 0 0 0 0 3
Myllykangas group, University of Helsinki 0 0 3 0 0 0 3
Rare Disease Group, Clinical Genetics, Karolinska Institutet 1 0 2 0 0 0 3
Undiagnosed Diseases Network, NIH 1 2 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 1 0 0 0 0 2
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 1 0 0 0 2
Centre for Clinical Genetics and Genomic Diagnostics, Zealand University Hospital 0 1 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 1 0 0 0 0 2
Department of Neurology, The First Affiliated Hospital of Fujian Medical University 0 2 0 0 0 0 2
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK) 0 1 1 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 1 1 0 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 0 1 0 1 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 1 0 0 0 0 2
Genetics Institute, Tel Aviv Sourasky Medical Center 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 0 1 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 1 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 1 0 0 0 0 2
Molecular Medicine, University of Pavia 0 1 1 0 0 0 2
Neurogenetics Research Program, University of Adelaide 1 1 0 0 0 0 2
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 1 1 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia 0 1 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Dasa 0 0 1 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 1 0 0 0 0 1
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 1 0 0 0 0 1
Eye Genetics Research Group, Children's Medical Research Institute 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 1 0 0 0 1
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) 1 0 0 0 0 0 1
Imagene.me medical diagnostic laboratory, IMAGENE.ME SA 1 0 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 1 0 0 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Nephrology, Zhejiang Provincial People's Hospital 0 1 0 0 0 0 1
Prenatal Diagnosis Center, Shandong Provincal Hospital 0 1 0 0 0 0 1
Prenatal Genetic Diagnosis Laboratory, The Chinese University of Hong Kong 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Refractive Surgery Department, Bright Eye Hospital 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.