ClinVar Miner

Variants in gene COL4A4

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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
114 179 381 297 92 1 933

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 64 57 88 227 77 0 491
Alport syndrome 4 5 209 47 52 0 302
Alport syndrome, autosomal recessive 28 87 55 15 4 0 188
not specified 0 0 20 40 46 0 94
Alport syndrome 3, autosomal dominant 18 24 33 0 0 0 75
Benign familial hematuria 14 7 6 0 0 1 27
Alport syndrome 3, autosomal dominant; Benign familial hematuria 0 4 2 0 0 0 6
Nephrotic syndrome 0 4 0 0 0 0 4
Chronic kidney disease 2 1 0 0 0 0 3
Glomerulonephritis (disease) 0 1 2 0 0 0 3
Hematuria 0 3 0 0 0 0 3
Alport syndrome 1, X-linked recessive 0 0 1 0 1 0 2
Hearing impairment; Myopia (disease); Proteinuria; Hematuria; Hypertensive disorder 0 2 0 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertensive disorder 0 0 2 0 0 0 2
Alport syndrome type 2 0 1 0 0 0 0 1
Hearing impairment 0 0 1 0 0 0 1
Microscopic hematuria 0 0 1 0 0 0 1
Specific language impairment 5 1 0 0 0 0 0 1
Steroid-resistant nephrotic syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 24 60 223 52 0 404
Illumina Clinical Services Laboratory,Illumina 0 0 181 33 38 0 252
Counsyl 4 48 39 15 0 0 106
Natera, Inc. 1 0 32 17 37 0 87
Athena Diagnostics Inc 9 16 15 4 39 0 83
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 20 28 33 0 0 0 81
GeneDx 4 3 6 26 37 0 76
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 13 14 39 0 66
PreventionGenetics, PreventionGenetics 0 0 0 8 29 0 37
Gharavi Laboratory,Columbia University 10 16 1 0 0 0 27
Molecular Biology Laboratory, Fundació Puigvert 11 12 0 0 0 0 23
Myriad Women's Health, Inc. 0 19 0 0 0 0 19
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 13 1 3 0 17
Sydney Genome Diagnostics,Children's Hospital Westmead 4 9 3 0 0 0 16
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 7 2 3 0 0 0 12
Medical Genetics, University of Parma 0 6 6 0 0 0 12
Baylor Genetics 3 0 8 0 0 0 11
OMIM 8 0 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 4 0 0 0 7
Institute of Human Genetics,Cologne University 1 3 1 0 0 0 5
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 3 2 0 0 0 5
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 0 3
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Genetic Diagnostic Laboratory,University of Szeged 3 0 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 3 0 0 0 3
Cavalleri Lab, Royal College of Surgeons in Ireland 2 1 0 0 0 0 3
Ambry Genetics 0 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 1 0 0 2
Mendelics 0 0 1 0 1 0 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 0 2
Division of Nephrology,Beth Israel Deaconess Medical Center 0 2 0 0 0 0 2
Precision Medicine Center,Zhengzhou University 0 1 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 0 1
Renal Department,Renmin Hospital of Wuhan University 1 0 0 0 0 0 1
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) 0 1 0 0 0 0 1
Department of Pediatric Cardiology, Nephrology and Rheumatology,The Affiliated Hospital of Qingdao University 0 0 0 0 0 1 1
Laboratory for Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana 1 0 0 0 0 0 1
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center 0 0 1 0 0 0 1

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