ClinVar Miner

Variants in gene COL4A1

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Minimum submission review status: Collection method:
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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
38 29 103 56 41 2 2 253

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 6 2 38 47 26 0 0 119
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 provided 11 19 52 5 8 0 0 95
not specified 0 0 7 10 28 0 0 45
Porencephaly 1 16 1 1 0 0 0 0 18
Inborn genetic diseases 4 3 4 0 0 0 0 11
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Porencephaly 1; 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 with hemorrhage; Porencephaly 1 0 0 0 0 0 0 1 1
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Porencephaly 1 1 0 0 0 0 0 0 1
Brain small vessel disease with hemorrhage; Porencephaly 1 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: 21
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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
GeneDx 9 14 20 4 17 0 0 64
Athena Diagnostics Inc 2 3 8 1 27 0 0 41
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 16 4 11 0 0 31
PreventionGenetics 0 0 0 2 23 0 0 25
OMIM 22 0 0 0 0 2 0 24
Ambry Genetics 4 3 4 0 0 0 0 11
GeneReviews 11 0 0 0 0 0 0 11
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 7 2 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
Baylor Miraca Genetics Laboratories, 0 2 1 0 0 0 0 3
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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Mendelics 0 1 0 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
Laboratory of Medical Genetics,National & Kapodistrian University of Athens 0 1 0 0 0 0 0 1

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