ClinVar Miner

Variants in gene COL4A5

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 not provided total
959 242 133 142 80 1 1458

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Alport syndrome 1, X-linked recessive 838 128 53 10 25 1 1026
not provided 179 100 71 123 60 0 508
Alport syndrome 24 14 4 0 1 0 43
not specified 0 2 8 14 15 0 39
Nephrotic syndrome 1 1 2 0 0 0 4
Hearing impairment 1 0 1 0 0 0 2
See cases 0 1 1 0 0 0 2
Atypical hemolytic uremic syndrome 1 0 0 0 0 0 1
Downslanted palpebral fissures; Proteinuria; Nephropathy; Hematuria 1 0 0 0 0 0 1
Familial hematuria 0 1 0 0 0 0 1
Focal segmental glomerulosclerosis 1 0 0 0 0 0 1
Hearing impairment; Bilateral sensorineural hearing impairment; Nephritis; Proteinuria; Global glomerulosclerosis 1 0 0 0 0 0 1
Hearing impairment; Proteinuria; Hematuria 0 0 1 0 0 0 1
Hematuria 1 0 0 0 0 0 1
Hematuria; Microscopic hematuria 0 1 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 1
Isolated macular dystrophy 1 0 0 0 0 0 1
Microscopic hematuria; Elevated mean arterial pressure; Chronic kidney disease 1 0 0 0 0 0 1
Mild proteinuria; Glomerulopathy; Hypertensive disorder 1 0 0 0 0 0 1
Proteinuria; Hematuria 0 1 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1
Steroid-resistant nephrotic syndrome 0 1 0 0 0 0 1
Unilateral deafness; Microscopic hematuria; Mild proteinuria 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 60
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Research and Development, ARUP Laboratories 737 3 13 4 19 0 776
Invitae 114 56 39 121 57 0 387
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 35 32 16 1 0 0 84
Athena Diagnostics Inc 40 11 16 1 8 0 76
Sydney Genome Diagnostics,Children's Hospital Westmead 25 12 6 0 0 0 43
Gharavi Laboratory,Columbia University 15 18 8 0 0 0 41
GeneDx 21 5 6 3 1 0 36
Institute of Human Genetics, Klinikum rechts der Isar 32 4 0 0 0 0 36
Precision Medicine Center,Zhengzhou University 15 13 3 0 0 0 31
Molecular Biology Laboratory, Fundació Puigvert 15 13 0 0 0 0 28
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 3 8 0 0 14 0 25
Myriad Women's Health, Inc. 0 24 0 0 0 0 24
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 2 8 12 0 23
Natera, Inc. 0 0 6 4 10 0 20
OMIM 15 0 0 0 0 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 1 7 1 5 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 7 3 0 0 0 15
PreventionGenetics, PreventionGenetics 0 0 0 3 9 0 12
Mendelics 3 4 2 0 3 0 12
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 7 4 0 0 0 0 11
Medical Genetics, University of Parma 2 7 2 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 3 4 2 0 0 0 9
Baylor Genetics 3 0 5 0 0 0 8
Genetic Diagnostic Laboratory,University of Szeged 7 1 0 0 0 0 8
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 2 0 1 1 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 1 3 0 0 0 7
Institute of Human Genetics,Cologne University 2 3 1 0 0 0 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 5 0 0 0 0 0 5
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 3 2 0 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 2 2 0 0 0 0 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 3 1 0 0 0 0 4
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 3 0 0 0 0 4
Counsyl 0 1 2 0 0 0 3
GeneReviews 3 0 0 0 0 0 3
Molecular Medicine Center, Medical University of Sofia 2 1 0 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 1 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 2 0 0 0 0 2
Institute of Clinical Laboratory Science,Nanjing University Affiliated Jinling Hospital 2 0 0 0 0 0 2
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 1 0 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1
Molecular Genetics Laboratory,Institute for Ophthalmic Research 1 0 0 0 0 0 1
Ambry Genetics 1 0 0 0 0 0 1
MVZ Dr. Eberhard & Partner Dortmund 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Dhiti Omics Technologies Pvt. Ltd. 0 1 0 0 0 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1
GenePathDx,Causeway Health Care Private Ltd 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Molecular Medicine Research Center,University of Cyprus 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
HSP Biomedical Diagnostics Department,Hospital San Pedro 0 1 0 0 0 0 1
Department of Laboratory Medicine,Soonchunhyang University Seoul Hospital 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 1 0 0 1

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