ClinVar Miner

Variants studied for generalized dystonia

Included ClinVar conditions (8):
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
39 17 100 37 38 11 221

Gene and significance breakdown #

Total genes and gene combinations: 8
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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
TOR1A 6 2 26 11 13 9 58
LOC130002772, TOR1A 0 0 2 2 1 1 6
KMT2B 1 1 0 0 0 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
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

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 21 5 44 20 5 0 95
Illumina Laboratory Services, Illumina 1 0 44 15 33 0 93
OMIM 11 0 0 0 0 0 11
GeneReviews 0 0 0 0 0 10 10
Fulgent Genetics, Fulgent Genetics 1 1 2 0 1 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 3 1 0 0 0 0 4
Baylor Genetics 1 0 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 0 3
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 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
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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 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
New York Genome Center 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
Suma Genomics 0 0 0 1 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 1 0 0 0 1
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 1 0 0 0 0 1

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