ClinVar Miner

Variants in gene COL4A1

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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 risk factor not provided total
45 33 114 95 72 2 2 323

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 12 21 63 49 49 0 0 185
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 8 3 38 47 27 0 0 123
Brain small vessel disease with hemorrhage 2 3 38 47 27 0 0 116
Porencephalic cyst 0 0 38 47 26 0 0 111
not specified 0 0 8 10 28 0 0 46
Brain small vessel disease 1 with or without ocular anomalies 17 1 1 0 0 0 0 19
Inborn genetic diseases 4 3 4 0 0 0 0 11
MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT 4 0 0 0 0 0 0 4
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies; SCHIZENCEPHALY; Hemorrhage, intracerebral, susceptibility to; Retinal arteries, tortuosity of 0 0 3 0 0 0 0 3
Optic nerve hypoplasia 1 0 2 0 0 0 0 3
Hemorrhage, intracerebral, susceptibility to 0 0 0 0 0 2 0 2
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease 1 with or without ocular anomalies 1 0 0 0 0 0 0 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies 0 0 0 0 0 0 1 1
Brain small vessel disease 1 with or without ocular anomalies; MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT 0 1 0 0 0 0 0 1
Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 0 0 0 1
COL4A1-Related Disorder 0 0 0 0 0 0 1 1
Retinal arteries, tortuosity of 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 38 47 26 0 0 111
Invitae 0 1 0 44 45 0 0 90
GeneDx 10 14 20 4 17 0 0 65
Athena Diagnostics Inc 2 3 11 2 29 0 0 47
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 16 4 11 0 0 31
OMIM 26 0 0 0 0 2 0 28
PreventionGenetics,PreventionGenetics 0 0 0 2 23 0 0 25
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 15 4 0 0 0 22
Ambry Genetics 4 3 4 0 0 0 0 11
GeneReviews 11 0 0 0 0 0 0 11
Gharavi Laboratory,Columbia University 0 0 7 0 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 2 0 0 6
Mendelics 1 2 0 0 2 0 0 5
Baylor Genetics 0 2 1 0 0 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 1 0 2 0 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 1 1 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1

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