ClinVar Miner

Variants in gene TBC1D24

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
52 26 351 167 62 2 573

Condition and significance breakdown #

Total conditions: 25
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 14 7 163 76 16 0 276
Myoclonic epilepsy, familial infantile 4 2 136 26 28 0 196
not provided 14 13 74 36 10 1 140
not specified 0 0 31 80 34 0 122
Seizures 0 0 16 15 5 0 36
DOORS syndrome 12 2 0 0 0 0 14
Deafness, autosomal dominant 65 3 1 4 1 0 0 9
Deafness, autosomal recessive 86 5 0 1 0 0 1 7
Early infantile epileptic encephalopathy 16 3 1 1 0 0 0 5
DOORS syndrome; Myoclonic epilepsy, familial infantile; Deafness, autosomal recessive 86; Early infantile epileptic encephalopathy 16; Deafness, autosomal dominant 65 0 1 3 0 0 0 4
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 4 0 0 0 0 0 4
Inborn genetic diseases 1 2 0 0 0 0 3
Global developmental delay; Seizures; Specific learning disability; Cerebellar atrophy; Movement disorder 0 2 0 0 0 0 2
Parkinsonism 2 0 0 0 0 0 2
Autosomal dominant epilepsy 1 0 0 0 0 0 1
DOORS syndrome; Myoclonic epilepsy, familial infantile; Early infantile epileptic encephalopathy 16 0 1 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Intellectual disability; Periodic paralysis; Neurodevelopmental delay 1 0 0 0 0 0 1
Myoclonic epilepsy, familial infantile; Early infantile epileptic encephalopathy 16 0 0 1 0 0 0 1
Progressive myoclonus epilepsy with ataxia 1 0 0 0 0 0 1
Rare genetic deafness 0 1 0 0 0 0 1
Rolandic epilepsy 1 0 0 0 0 0 1
Seizures; Intellectual disability 0 0 1 0 0 0 1
Seizures; Nystagmus; Dysarthria; Myoclonus; Tremor 0 0 1 0 0 0 1
developmental delay with seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 14 7 163 86 16 0 286
Illumina Clinical Services Laboratory,Illumina 0 0 136 26 28 0 190
GeneDx 11 12 39 63 32 0 157
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 21 26 18 0 66
Ambry Genetics 1 2 16 15 5 0 39
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 20 2 9 0 33
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 18 8 0 0 28
OMIM 18 0 0 0 0 0 18
Genetic Services Laboratory, University of Chicago 0 2 8 8 0 0 18
Division of Medical Genetics; Sainte-Justine Hospital 18 0 0 0 0 0 18
Athena Diagnostics Inc 0 0 5 5 7 0 17
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 0 0 0 0 0 8
PreventionGenetics, PreventionGenetics 0 0 0 0 4 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 0 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 3 0 0 0 4
Baylor Genetics 1 2 0 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 2 0 0 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Gharavi Laboratory,Columbia University 0 0 2 0 0 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Molecular Biology of Hearing and Deafness Laboratory, Xinhua Hospital 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 1 0 0 0 0 0 1
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 0 0 1 0 0 1
New York Genome Center 0 0 1 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.