ClinVar Miner

Variants in gene COL5A1

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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
106 37 544 527 267 7 1296

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, classic type 77 19 382 216 79 6 743
not provided 29 13 156 174 137 0 505
not specified 0 1 21 178 133 0 310
Cardiovascular phenotype 2 1 62 75 23 0 163
Ehlers-Danlos syndrome, type 7A 0 0 44 42 7 0 93
Connective tissue disease 0 1 9 23 0 0 33
Ehlers-Danlos syndrome, classic type I 8 0 10 0 0 0 18
Ehlers-Danlos syndrome classic type 2 1 0 8 1 0 0 10
Abnormal bleeding; Thrombocytopenia 0 0 3 0 0 0 3
Familial thoracic aortic aneurysm and aortic dissection 0 1 1 1 0 0 3
Abnormal bleeding 0 0 2 0 0 0 2
Inborn genetic diseases 0 0 2 0 0 0 2
See cases 1 0 1 0 0 0 2
Aortic dilatation 0 0 1 0 0 0 1
Aortic valve disease 1; Familial thoracic aortic aneurysm and aortic dissection 0 0 1 0 0 0 1
Arrhythmia; Joint dislocation; Joint laxity; Wolff-Parkinson-White syndrome; Arthralgia; Hyperextensible hand joints 0 0 1 0 0 0 1
Brugada syndrome 0 0 1 0 0 0 1
Clubfoot; Cutis laxa; Hyperextensible skin; Soft skin; Bruising susceptibility; Atrophic scars; Joint hypermobility; Bilateral talipes equinovarus; Joint hyperflexibility; Edema of the dorsum of feet 0 1 0 0 0 0 1
Ehlers-Danlos syndrome classic type 2; Ehlers-Danlos syndrome, classic type 0 0 0 0 0 1 1
FIBROMUSCULAR DYSPLASIA, MULTIFOCAL 1 0 0 0 0 0 1
Hypertelorism; Abnormality of digit; Venous malformation; Dural ectasia 0 0 1 0 0 0 1
Inguinal hernia; Cataract (disease); Abnormally lax or hyperextensible skin; Soft skin; Bruising susceptibility; Mitral valve prolapse; Gastroesophageal reflux; Pneumothorax; Difficulty walking; Patellar dislocation; Constrictive median neuropathy; Pain; Developmental dysplasia of the hip 0 1 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 71 15 365 249 55 0 755
GeneDx 21 11 122 228 216 0 598
Ambry Genetics 2 1 64 75 23 0 165
Illumina Clinical Services Laboratory,Illumina 0 0 44 79 37 0 122
PreventionGenetics, PreventionGenetics 0 0 1 36 66 0 103
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 15 15 36 0 67
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 1 18 8 9 0 40
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 2 13 24 0 0 39
CeGaT Praxis fuer Humangenetik Tuebingen 4 1 21 11 0 0 37
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 17 0 18
Blueprint Genetics 0 0 13 1 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 10 1 0 0 14
Fulgent Genetics,Fulgent Genetics 0 0 10 0 0 0 10
OMIM 9 0 0 0 0 0 9
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 7 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
Baylor Genetics 2 1 3 0 0 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 3
Birmingham Platelet Group; University of Birmingham 0 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 2 0 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Mendelics 0 1 0 0 1 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Lineagen, Inc 0 0 1 0 0 0 1
GeneReviews 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 1
ISCA site 1 1 0 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 1
Division of Biology and Genetics,University of Brescia 1 0 0 0 0 0 1

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