ClinVar Miner

Variants in gene COL4A4

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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 total
57 112 210 144 86 528

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 26 37 27 81 77 237
Alport syndrome 0 0 99 22 18 139
Alport syndrome, autosomal recessive 14 55 41 15 4 128
not specified 0 0 20 35 43 86
Alport syndrome 3, autosomal dominant 16 22 32 0 0 70
Benign familial hematuria 6 1 0 0 0 7
Alport syndrome 1, X-linked recessive 0 0 1 0 1 2
Hearing impairment; Myopia; Proteinuria; Hematuria; Hypertension 0 2 0 0 0 2
Stage 5 chronic kidney disease; Hyperkalemia; Thrombocytopenia; Hypertension 0 0 2 0 0 2
Specific language impairment 5 1 0 0 0 0 1
Steroid-resistant nephrotic syndrome 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 99 22 18 139
Invitae 3 1 0 77 52 133
Counsyl 4 48 39 15 0 106
Athena Diagnostics Inc 9 16 13 4 35 77
GeneDx 4 3 6 26 37 76
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 17 24 33 0 0 74
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 0 12 9 35 56
PreventionGenetics,PreventionGenetics 0 0 0 8 29 37
Gharavi Laboratory,Columbia University 10 16 1 0 0 27
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 13 1 3 17
OMIM 8 0 0 0 0 8
Institute of Human Genetics,Cologne University 1 3 1 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 2 0 0 4
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 4 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 0 0 3
Genetic Diagnostic Laboratory,University of Szeged 3 0 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 1 0 2
Mendelics 0 0 1 0 1 2
Fulgent Genetics,Fulgent Genetics 1 1 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 2
Division of Nephrology,Beth Israel Deaconess Medical Center 0 2 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 1
Molecular Medicine Center, Medical University of Sofia 0 1 0 0 0 1
Renal Department,Renmin Hospital of Wuhan University 1 0 0 0 0 1

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