ClinVar Miner

Variants studied for Dystonic disorder

Coded as:
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 total
35 14 458 441 161 1109

Gene and significance breakdown #

Total genes and gene combinations: 31
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
CIZ1 0 0 143 95 45 283
ANO3 2 2 121 111 39 275
SPR 12 1 48 76 2 139
GNAL 6 1 34 42 24 107
TOR1A 1 1 45 37 9 93
DRD2 0 0 25 30 32 87
LOC129934069, SPR 2 0 18 35 0 55
SLC2A1 0 0 7 1 1 9
PRKRA 0 0 3 5 0 8
ANO3, MUC15 0 0 3 2 1 6
LOC130002772, TOR1A 0 0 1 4 1 6
PJVK, PRKRA 0 0 0 1 4 5
SLC2A1, SLC2A1-DT 0 0 3 0 1 4
TH 1 2 1 0 0 4
THAP1 0 1 3 0 0 4
CHROMR, PRKRA 0 0 0 1 2 3
GCH1 3 0 0 0 0 3
IMPDH2 0 2 0 0 0 2
KMT2B 1 1 0 0 0 2
NPC1 0 2 0 0 0 2
PANK2 1 1 0 0 0 2
ACTG2, ALMS1, ANKRD53, ATP6V1B1, AUP1, BOLA3, C2orf78, C2orf81, CCDC142, CCT7, CD207, CLEC4F, CYP26B1, DCTN1, DGUOK, DOK1, DQX1, DUSP11, DYSF, EGR4, EMX1, EXOC6B, FBXO41, FIGLA, HTRA2, INO80B, LBX2, LOXL3, MCEE, MOB1A, MOGS, MPHOSPH10, MRPL53, MTHFD2, NAGK, NAT8, NAT8B, NOTO, PAIP2B, PCGF1, PRADC1, RAB11FIP5, RTKN, SFXN5, SLC4A5, SMYD5, SPR, STAMBP, TET3, TEX261, TLX2, TPRKB, TTC31, VAX2, WBP1, WDR54, ZNF638 1 0 0 0 0 1
AFG3L2, ANKRD12, ANKRD62, APCDD1, CEP76, CHMP1B, CIDEA, GNAL, IMPA2, MPPE1, NAPG, NDUFV2, PIEZO2, PPP4R1, PRELID3A, PSMG2, RAB31, RALBP1, SLC35G4, SPIRE1, TUBB6, TWSG1, TXNDC2, VAPA 0 0 1 0 0 1
ARFGEF3 0 0 1 0 0 1
ATP4A, CD22, COX6B1, DMKN, ETV2, FAM187B, FFAR1, FFAR2, FFAR3, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GPR42, HAMP, HAUS5, HPN, HSPB6, IGFLR1, KMT2B, KRTDAP, LGI4, LIN37, LSR, MAG, PROSER3, PSENEN, RBM42, SBSN, TMEM147, U2AF1L4, UPK1A, USF2, ZBTB32 1 0 0 0 0 1
CHMP1B, GNAL 1 0 0 0 0 1
GJC2 1 0 0 0 0 1
MT-ND4 0 0 1 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 1
TUBB4A 0 0 0 1 0 1
WDR73 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 24 6 440 432 153 1055
Illumina Laboratory Services, Illumina 0 0 16 9 8 33
NIHR Bioresource Rare Diseases, University of Cambridge 6 2 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 2
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 2 0 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 1
Anu Suomalainen-Wartiovaara lab, University of Helsinki 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.