ClinVar Miner

Variants studied for paroxysmal dystonia

Included ClinVar conditions (23):
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
160 36 668 358 119 10 1301

Gene and significance breakdown #

Total genes and gene combinations: 30
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MVP-DT, PRRT2 95 17 233 143 15 4 493
CATIP, PNKD 0 0 240 120 49 1 392
SLC2A1 38 15 118 53 52 2 267
PNKD 1 0 39 22 2 1 61
LOC129935594, PNKD 2 1 25 15 0 2 42
TMEM151A 9 0 0 0 0 0 9
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 2 0 2 0 0 0 4
CATIP, MIR6810, PNKD 0 0 1 3 0 0 4
PRRT2 2 0 1 0 0 0 3
SLC2A1, SLC2A1-DT 2 0 0 0 1 0 3
LOC129930369, SLC2A1 0 0 1 1 0 0 2
PEX6 2 0 0 0 0 0 2
PNKD, TMBIM1 0 0 2 0 0 0 2
AAMP, ABCB6, ANKZF1, ARPC2, ASIC4, ATG9A, BCS1L, CATIP, CDK5R2, CFAP65, CHPF, CNOT9, CNPPD1, CRYBA2, CTDSP1, CXCR1, CXCR2, CYP27A1, DES, DNAJB2, DNPEP, FEV, GLB1L, GMPPA, GPBAR1, IHH, MIR26B, MIR375, NHEJ1, OBSL1, PLCD4, PNKD, PRKAG3, PTPRN, RESP18, RETREG2, RNF25, SLC11A1, SLC23A3, SPEG, STK16, STK36, TMBIM1, TMEM198, TTLL4, TUBA4A, USP37, VIL1, WNT10A, WNT6, ZFAND2B, ZNF142 0 0 1 0 0 0 1
ALDOA, ASPHD1, BOLA2B, C16orf54, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SPN, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, ZG16 1 0 0 0 0 0 1
ALDOA, ASPHD1, C16orf92, CDIPT, DOC2A, HIRIP3, INO80E, KCTD13, MVP, PAGR1, PRRT2, SEZ6L2, TAOK2, TLCD3B, TMEM219 1 0 0 0 0 0 1
ASPHD1, CDIPT, CDIPTOSP, LOC112352680, LOC121847977, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, MVP, MVP-DT, PAGR1, PRRT2, SEZ6L2 1 0 0 0 0 0 1
CCDST, FLG 1 0 0 0 0 0 1
DNMT1 0 0 1 0 0 0 1
EBF3, GLRX3, MGMT 0 1 0 0 0 0 1
GRIN2B 0 0 0 1 0 0 1
KCNA1 0 1 0 0 0 0 1
KCNJ10 0 0 1 0 0 0 1
KIF22, MAZ, PRRT2 1 0 0 0 0 0 1
KIF5A 0 0 1 0 0 0 1
LOC125467768, PCDH19 0 0 1 0 0 0 1
LOC130058790, MVP-DT, PRRT2 0 0 1 0 0 0 1
LOC130058793, LOC130058794, MVP, PRRT2 0 1 0 0 0 0 1
PAGR1, PRRT2 1 0 0 0 0 0 1
PDE2A 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 68
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 91 9 503 292 35 0 930
Illumina Laboratory Services, Illumina 1 0 67 11 78 0 157
Genome-Nilou Lab 0 0 67 49 32 0 148
OMIM 34 0 0 0 0 0 34
Mendelics 24 1 0 1 2 0 28
Fulgent Genetics, Fulgent Genetics 5 1 7 6 0 0 19
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 1 7 0 0 0 11
Neuberg Centre For Genomic Medicine, NCGM 2 3 6 0 0 0 11
Baylor Genetics 5 0 5 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 7 1 0 0 10
MGZ Medical Genetics Center 3 4 2 0 0 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 3 0 1 0 0 9
GeneReviews 0 0 0 0 0 6 6
Revvity Omics, Revvity 0 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 2 0 0 0 5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 1 0 0 0 0 5
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 2 0 0 0 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 2 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 4 0 0 0 0 0 4
Athena Diagnostics 0 0 0 0 3 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 2 0 0 0 3
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 3 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 2 0 0 0 2
Reproductive Development, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 1 0 0 0 0 2
3billion 0 1 1 0 0 0 2
Genomics England Pilot Project, Genomics England 1 1 0 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 0 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

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