ClinVar Miner

Variants studied for isolated dystonia

Included ClinVar conditions (22):
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
67 37 175 54 123 19 450

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
THAP1 32 14 68 24 24 1 151
ANO3 6 3 17 2 39 0 66
COL6A3 7 6 31 9 12 3 66
TOR1A 6 2 26 11 13 9 58
TUBB4A 3 5 13 3 27 2 52
GNAL 6 1 3 1 2 3 16
PDE10A 2 5 3 1 2 0 13
CACNA1B 0 0 5 1 0 0 6
LOC130002772, TOR1A 0 0 2 2 1 1 6
HPCA 3 0 1 0 0 0 4
ANO3, MUC15 0 0 0 0 2 0 2
KMT2B 1 1 0 0 0 0 2
LOC130063295, TUBB4A 1 0 0 0 1 0 2
ANK1, AP3M2, CHRNA6, CHRNB3, DKK4, FNTA, HGSNAT, HOOK3, IKBKB, KAT6A, PLAT, POLB, POMK, RNF170, SLC20A2, SMIM19, THAP1, VDAC3 0 0 1 0 0 0 1
CIZ1 0 0 1 0 0 0 1
DCTN1 0 0 1 0 0 0 1
GLI3 0 0 1 0 0 0 1
INS, TH 0 0 1 0 0 0 1
MT-CO3 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 61
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 1 0 54 17 60 0 132
Labcorp Genetics (formerly Invitae), Labcorp 21 5 44 20 5 0 95
Genome-Nilou Lab 0 0 0 0 56 0 56
OMIM 33 0 1 0 0 0 34
Fulgent Genetics, Fulgent Genetics 1 2 15 12 3 0 33
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 16 0 0 0 16
GeneReviews 0 0 0 0 0 13 13
Baylor Genetics 3 2 6 0 0 0 11
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 5 0 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 6 0 0 0 8
Revvity Omics, Revvity 0 0 5 0 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 4 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 4 0 0 0 5
MGZ Medical Genetics Center 2 1 1 0 0 0 4
Mendelics 2 1 1 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 1 1 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Suma Genomics 0 1 0 1 0 0 2
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 0 2 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 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 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 1 0 0 0 0 0 1
Istituto Neurologico Mediterraneo, Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 1 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1
School of Medicine, Universitat de Girona 0 0 1 0 0 0 1
Dr.Nikuei Genetic Center 0 0 0 1 0 0 1

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