ClinVar Miner

Variants in gene TBC1D24

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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 not provided total
46 20 294 141 62 2 492

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Myoclonic epilepsy, familial infantile 4 2 136 26 28 0 196
Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 7 5 100 42 16 0 170
not provided 13 12 72 31 10 1 136
not specified 0 0 29 79 34 0 119
Seizures 0 0 16 15 5 0 36
DOORS syndrome 11 0 0 0 0 0 11
Deafness, autosomal recessive 86 4 0 1 0 0 1 6
Deafness, autosomal dominant 65 2 1 1 1 0 0 5
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 0 2 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; 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
developmental delay with seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 136 26 28 0 190
Invitae 7 5 100 58 16 0 186
GeneDx 11 12 39 63 32 0 157
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 18 25 18 0 62
Ambry Genetics 1 0 18 15 5 0 39
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 20 2 9 0 33
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 16 3 0 0 20
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 6 5 6 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
Mayo Clinic Genetic Testing 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
Baylor Genetics 0 1 0 0 0 0 1
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
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
Laboratory of Prof. Karen Avraham,Tel Aviv University 1 0 0 0 0 0 1
Genetics,Medical University of Vienna 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

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