ClinVar Miner

Variants in gene BICD2

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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 not provided total
19 26 389 398 70 3 804

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 9 16 293 339 53 1 700
Inborn genetic diseases 1 3 64 74 0 0 142
not provided 10 7 55 46 27 0 135
not specified 0 0 8 27 2 0 37
BICD2-related condition 0 0 9 16 7 0 32
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 4 2 2 0 1 0 9
Neuronopathy, distal hereditary motor, autosomal dominant 3 0 1 0 1 0 5
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures; Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 0 0 1 2 0 0 3
Spastic paraplegia 1 0 2 0 0 0 3
Charcot-Marie-Tooth disease 0 0 2 0 0 0 2
Hereditary spastic paraplegia 0 0 2 0 0 0 2
Hereditary spastic paraplegia 3A 0 0 2 0 0 0 2
Autism spectrum disorder 0 0 1 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 0 0 0 1 1
Autosomal dominant hereditary axonal motor and sensory neuropathy 0 0 1 0 0 0 1
Myopathy; Pelvic girdle muscle weakness 0 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 5B 0 0 1 0 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 0 1 0 0 0 1
Seizure; Feeding difficulties; Muscle weakness; EEG abnormality; Tapered finger; Absent speech; Open mouth; Macrocephaly; Decreased fetal movement; Cerebral cortical atrophy; Downturned corners of mouth; Recurrent fractures; Arthrogryposis multiplex congenita; Muscular atrophy 0 1 0 0 0 0 1
Spinal muscular atrophy 0 0 0 0 0 1 1
Spinal muscular atrophy, lower extremity-predominant, 2, AD 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 8 274 344 51 0 682
Ambry Genetics 1 3 64 74 0 0 142
GeneDx 9 3 29 49 23 0 113
PreventionGenetics, part of Exact Sciences 0 0 9 16 7 0 32
CeGaT Center for Human Genetics Tuebingen 0 1 10 12 0 0 23
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 8 4 0 17
OMIM 9 0 0 0 0 0 9
Revvity Omics, Revvity 0 1 8 0 0 0 9
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 8 0 0 0 8
Inherited Neuropathy Consortium 3 0 3 0 1 0 7
Athena Diagnostics Inc 0 0 4 0 1 0 5
Baylor Genetics 0 1 3 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 1 1 1 1 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 1 1 0 1 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 3 0 0 0 3
Mendelics 0 0 1 0 2 0 3
Mayo Clinic Laboratories, Mayo Clinic 1 0 2 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 1 2 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 2 1 0 3
Paris Brain Institute, Inserm - ICM 1 0 2 0 0 0 3
Département de Neurologie, Hospices Civils de Lyon 0 2 1 0 0 0 3
Clinical Genetics, Academic Medical Center 0 0 1 0 1 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 2
Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 1 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
School of Bio-Medicine, Mongolian National University of Medical Sciences 0 1 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
3billion 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 1 0 0 0 0 0 1

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