ClinVar Miner

Variants in gene COL4A2

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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 risk factor total
7 13 118 68 123 3 308

Condition and significance breakdown #

Total conditions: 12
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Porencephaly 2 5 4 72 22 107 0 207
not provided 2 8 36 48 65 0 156
Acquired porencephaly 0 0 4 1 1 0 6
Hemorrhage, intracerebral, susceptibility to 0 0 0 0 0 3 3
Optic nerve hypoplasia 0 1 2 0 0 0 3
Inborn genetic diseases 0 1 1 0 0 0 2
Intraventricular hemorrhage 0 1 0 0 0 0 1
Joint hypermobility 0 0 1 0 0 0 1
Seizures; Cerebral hemorrhage 0 0 1 0 0 0 1
Vascular dementia 0 0 1 0 0 0 1
Vasculitis 0 0 1 0 0 0 1
not specified 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 61 22 106 0 189
Invitae 1 0 7 42 45 0 95
GeneDx 0 5 19 2 18 0 44
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 8 4 0 0 15
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 7 0 1 0 8
OMIM 4 0 0 0 0 3 7
New York Genome Center 0 0 5 0 0 0 5
Baylor Genetics 1 0 2 0 0 0 3
Mendelics 0 0 0 0 3 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 2 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 2 0 0 0 3
Ambry Genetics 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 1 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Myllykangas group,University of Helsinki 0 0 1 0 0 0 1
National Centre for Medical Genetics,Crumlin Children's Hospital, Dublin 1 0 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 0 1

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