ClinVar Miner

Variants in gene COL6A2

See also:
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
96 63 573 330 185 3 985

Condition and significance breakdown #

Total conditions: 19
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 53 31 382 78 81 0 594
Bethlem myopathy 1 37 24 237 130 45 1 471
Collagen VI-related myopathy 1 3 49 48 94 1 195
not specified 0 0 12 131 65 0 172
Myosclerosis 0 0 35 68 12 0 115
Ullrich congenital muscular dystrophy 1 12 2 2 0 0 0 16
Myosclerosis, autosomal recessive 1 2 4 3 0 0 10
BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 4 0 0 0 0 0 4
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1; Myosclerosis, autosomal recessive 0 0 4 0 0 0 4
Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1 0 0 2 0 0 1 3
Myopathy 0 3 0 0 0 0 3
Inborn genetic diseases 2 0 0 0 0 0 2
Ullrich congenital muscular dystrophy 1, autosomal dominant 2 0 0 0 0 0 2
COL6A2-related disorder 0 0 1 0 0 0 1
Congenital muscular dystrophy 0 0 1 0 0 0 1
Muscle weakness; Difficulty walking; Falls; Hip flexor weakness; Developmental dysplasia of the hip 1 0 0 0 0 0 1
Muscle weakness; Spasticity; Hypertonia; Neurogenic bladder; Spastic gait; Abnormality of the cerebral white matter; Cerebral venous thrombosis; Bone marrow hypocellularity; Myelitis; Abnormal thalamic MRI signal intensity; Abnormal brainstem MRI signal intensity; Congenital combined immunodeficiency 0 0 1 0 0 0 1
Muscular dystrophy; Limb-girdle muscle weakness; Hyperextensible hand joints; Fatigue 0 1 0 0 0 0 1
Qualitative or quantitative defects of collagen 6 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 33 18 234 182 45 0 512
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 40 15 356 26 61 0 498
GeneDx 12 11 33 105 85 0 246
Illumina Clinical Services Laboratory,Illumina 1 3 65 101 94 0 195
PreventionGenetics,PreventionGenetics 0 0 0 37 34 0 71
CeGaT Praxis fuer Humangenetik Tuebingen 7 4 19 7 0 0 37
Genetic Services Laboratory, University of Chicago 0 3 3 10 8 0 24
OMIM 21 0 0 0 0 0 21
Athena Diagnostics Inc 1 1 1 1 13 0 17
Mendelics 3 1 1 1 4 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 3 1 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 4 0 0 6
Center for Genetic Medicine Research,Children's National Medical Center 0 1 3 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 0 0 1 1 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 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
Ambry Genetics 2 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 1 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 1 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Hacettepe Genetic Diseases Diagnosis Center,Hacettepe University Faculty of Medicine 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.