ClinVar Miner

Variants in gene TBC1D24

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Minimum submission review status: Collection method:
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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
89 48 536 304 69 10 922

Condition and significance breakdown #

Total conditions: 30
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 58 14 322 235 21 0 650
not provided 22 22 133 76 21 2 251
Familial infantile myoclonic epilepsy 4 2 136 26 28 0 196
Inborn genetic diseases 6 4 59 38 6 0 113
not specified 0 0 30 61 34 0 108
TBC1D24-related condition 1 3 5 15 5 0 29
DOORS syndrome 12 3 0 0 0 6 18
Developmental and epileptic encephalopathy, 16 6 5 6 0 0 0 16
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 0 1 8 3 1 0 13
Autosomal dominant nonsyndromic hearing loss 65 3 1 6 1 0 0 11
Autosomal recessive nonsyndromic hearing loss 86 5 0 4 0 0 1 10
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 4 1 3 0 0 0 7
DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 0 1 3 0 0 1 5
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 1 0 1 0 0 1 3
TBC1D24-Related Disorders 2 1 0 0 0 0 3
Abnormality of the nervous system 0 2 0 0 0 0 2
Auditory neuropathy spectrum disorder 2 0 0 0 0 0 2
Global developmental delay; Seizure; Specific learning disability; Cerebellar atrophy; Movement disorder 0 2 0 0 0 0 2
Parkinsonian disorder 2 0 0 0 0 0 2
Autosomal dominant epilepsy 1 0 0 0 0 0 1
Childhood epilepsy with centrotemporal spikes 1 0 0 0 0 0 1
DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 0 1 0 0 0 0 1
Epilepsy, progressive myoclonic, 1B 1 0 0 0 0 0 1
Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 0 0 1 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
Rare genetic deafness 0 1 0 0 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 0 1
Seizure; 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: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 58 14 322 235 21 0 650
GeneDx 17 19 84 79 43 0 242
Illumina Laboratory Services, Illumina 0 0 135 26 28 0 189
Ambry Genetics 6 4 59 38 6 0 113
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 21 26 18 0 66
CeGaT Center for Human Genetics Tuebingen 3 1 29 25 1 0 59
PreventionGenetics, part of Exact Sciences 1 3 5 15 9 0 33
Eurofins Ntd Llc (ga) 2 0 20 2 9 0 33
Genetic Services Laboratory, University of Chicago 0 2 9 9 1 0 21
OMIM 19 0 0 0 0 0 19
Athena Diagnostics Inc 0 1 6 5 7 0 19
Division of Medical Genetics; Sainte-Justine Hospital 18 0 0 0 0 0 18
Revvity Omics, Revvity 3 2 8 0 0 0 13
Fulgent Genetics, Fulgent Genetics 0 1 8 3 1 0 13
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 6 3 0 10
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 3 0 8
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 8 0 0 0 0 0 8
Mayo Clinic Laboratories, Mayo Clinic 1 0 6 0 0 0 7
GeneReviews 0 0 0 0 0 6 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 5 0 0 6
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 1 0 0 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
New York Genome Center 1 0 3 0 0 0 4
Baylor Genetics 1 2 0 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 1 1 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 2 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 1 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 2
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 0 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Gharavi Laboratory, Columbia University 0 0 2 0 0 0 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 1 0 2
Clinical Genomics Program, Stanford Medicine 2 0 0 0 0 0 2
Laboratoire Génétique Moléculaire, CHRU TOURS 1 1 0 0 0 0 2
3billion 0 0 2 0 0 0 2
Deafness Molecular Diagnostic Center, Chinese PLA General Hospital 0 0 2 0 0 0 2
Department of Otolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University 2 0 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 1 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
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
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 1 0 0 0 1
Genetics, Medical University of Vienna 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
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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Hebei Molecular Diagnosis Lab for Deafness, the Second Hospital of Hebei Medical University 0 0 1 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 1 0 0 0 1

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