ClinVar Miner

Variants studied for combined dystonia

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
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Gene type:
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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
371 98 1492 1274 279 29 3399

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP1A3 70 37 300 480 64 18 913
MVP-DT, PRRT2 95 14 234 143 15 4 492
CASD1, SGCE 99 15 231 130 22 0 483
CATIP, PNKD 0 0 239 120 49 1 391
SLC6A3 8 6 129 199 33 0 364
SLC2A1 37 13 117 53 52 2 264
KCTD17 2 0 39 45 9 0 94
PRKRA 1 0 40 22 11 0 72
PNKD 1 0 39 22 2 1 61
SGCE 12 0 34 13 0 0 58
CHROMR, PRKRA 2 2 27 13 10 0 50
LOC129935594, PNKD 2 1 26 15 0 2 42
TAF1 2 0 7 5 1 1 16
KCTD17, LOC130067340 0 0 7 5 1 0 13
SLC18A2 6 2 3 0 4 0 12
ATP1A3, LOC130064543 0 0 6 4 1 0 10
TMEM151A 9 0 0 0 0 0 9
WARS2 5 3 1 0 0 0 9
ATM, C11orf65 5 0 0 0 0 0 5
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
PJVK, PRKRA 0 0 0 0 4 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
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
AHRR, BRD9, CEP72, CLPTM1L, EXOC3, IRX4, LPCAT1, MRPL36, NDUFS6, NKD2, PDCD6, SDHA, SLC12A7, SLC6A18, SLC6A19, SLC6A3, SLC9A3, TERT, TPPP, TRIP13, ZDHHC11, ZDHHC11B 1 0 0 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
ANKRD54, BAIAP2L2, C1QTNF6, C22orf23, CARD10, CBY1, CDC42EP1, CIMIP4, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, EIF3L, ELFN2, FAM227A, GALR3, GCAT, GGA1, GTPBP1, H1-0, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, MAFF, MFNG, MICALL1, MIR659, MPST, NCF4, NOL12, PDXP, PICK1, PLA2G6, POLR2F, PVALB, RAC2, SH3BP1, SLC16A8, SOX10, SSTR3, SUN2, TMEM184B, TMPRSS6, TOMM22, TRIOBP, TST 0 0 1 0 0 0 1
ASB4, BET1, CASD1, COL1A2, DYNC1I1, GNG11, GNGT1, PDK4, PEG10, PON1, PON2, PON3, PPP1R9A, SGCE, TFPI2 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
ATM 1 0 0 0 0 0 1
CASD1, COL1A2, LOC129998822, LOC129998823, LOC129998824, LOC129998825, SGCE 1 0 0 0 0 0 1
CHROMR, FKBP7, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 1
CLPTM1L, SLC6A3, TERT 1 0 0 0 0 0 1
DRD2 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
KIF5A 0 0 1 0 0 0 1
LOC129931299, WARS2 1 1 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
PNKD, TMBIM1 0 0 1 0 0 0 1
SCN2A 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 244 44 1210 1184 144 0 2826
Illumina Laboratory Services, Illumina 2 0 129 24 140 0 295
Genome-Nilou Lab 0 0 67 49 93 0 209
OMIM 83 0 1 0 0 0 84
Fulgent Genetics, Fulgent Genetics 10 1 23 29 3 0 66
Revvity Omics, Revvity 4 2 43 0 0 0 49
Mendelics 32 5 1 1 4 0 43
Baylor Genetics 10 6 15 0 0 0 30
GeneReviews 1 0 0 0 0 24 25
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 17 8 0 0 0 0 25
Centre for Mendelian Genomics, University Medical Centre Ljubljana 3 3 12 0 1 0 19
MGZ Medical Genetics Center 6 5 5 0 0 0 16
Neuberg Centre For Genomic Medicine, NCGM 2 1 11 0 0 0 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 9 1 0 0 12
3billion 3 1 7 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 8 0 9
Génétique des Maladies du Développement, Hospices Civils de Lyon 5 3 0 1 0 0 9
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 5 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 3 0 7
Institute of Human Genetics, University of Leipzig Medical Center 3 0 3 0 0 0 6
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 4 0 6
New York Genome Center 0 0 6 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 3 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 1 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 0 0 0 0 0 5
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 2 0 0 0 4
Centogene AG - the Rare Disease Company 3 0 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 2 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 0 4 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 2 0 2 0 0 0 4
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 3 0 0 0 0 3
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 2 0 0 0 3
Genomics England Pilot Project, Genomics England 2 1 0 0 0 0 3
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital of Duesseldorf 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 1 0 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 1 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 2
DASA 2 0 0 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 1 0 0 0 2
Department of Neurology, Xijing Hospital, Fourth Military Medical University 0 0 2 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Applied Translational Genetics Group, University of Auckland 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 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
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Geriatric Neurology, Shaanxi Provincial People's Hospital 1 0 0 0 0 0 1
Université Mohamed IV des Sciences de la Santé, Hopital Cheikh Khalifa 1 0 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 1

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