ClinVar Miner

Variants studied for combined dystonia

Included ClinVar conditions (38):
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
314 114 1030 452 266 7 2058

Gene and significance breakdown #

Total genes and gene combinations: 41
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP1A3 38 12 173 136 49 0 383
TH 28 48 157 123 17 1 327
PRRT2 46 8 131 38 11 1 231
CASD1, SGCE 38 6 108 27 18 0 191
CATIP, PNKD 0 0 114 35 45 0 182
GCH1 50 5 72 18 30 0 166
SLC2A1 19 7 53 3 39 2 122
SLC6A3 7 3 47 37 22 0 111
SPR 10 2 34 0 4 0 50
KMT2B 17 12 19 0 0 1 44
PNKD 3 0 32 9 2 0 43
CHROMR, PRKRA 1 1 19 4 8 0 33
SGCE 6 1 18 5 0 0 30
KCTD17 1 0 13 8 4 0 26
PJVK, PRKRA 0 0 13 1 4 0 18
PRKRA 1 0 8 1 6 0 16
PLA2G6 7 3 7 0 0 0 15
DNAJC12 13 0 1 0 0 0 14
MECR 7 0 2 0 0 2 9
SLC39A14 8 1 0 0 0 0 8
INS, INS-IGF2, TH 0 0 0 2 5 0 7
ATM, C11orf65 5 0 0 0 0 0 5
INS, TH 0 0 1 3 2 0 4
TAF1 2 0 2 0 0 0 4
ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 1 0 1 0 0 0 2
SLC18A2 1 1 1 0 0 0 2
AP2A2, BRSK2, CD151, CDHR5, CEND1, CHID1, CRACR2B, CTSD, DEAF1, DRD4, DUSP8, EPS8L2, GATD1, H19, IFITM10, IGF2, INS, INS-IGF2, IRF7, KRTAP5-1, KRTAP5-2, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-6, LSP1, MOB2, MRPL23, MUC2, MUC5AC, MUC5B, MUC6, PIDD1, PNPLA2, POLR2L, RPLP2, SCT, SLC25A22, SYT8, TALDO1, TH, TMEM80, TNNI2, TNNT3, TOLLIP, TSPAN4 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, MVP, PAGR1, PRRT2, SEZ6L2 1 0 0 0 0 0 1
ATM 1 0 0 0 0 0 1
BRCA2 0 1 0 0 0 0 1
CASD1, COL1A2, SGCE 1 0 0 0 0 0 1
CATIP, MIR6810, PNKD 0 0 0 1 0 0 1
CHROMR, FKBP7, 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
GCH1, MIR4308 0 0 1 0 0 0 1
GRIN2B 0 0 0 1 0 0 1
KCNA1 0 1 0 0 0 0 1
MVP, PRRT2 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 65
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 145 29 630 394 88 0 1286
Illumina Clinical Services Laboratory,Illumina 1 0 245 40 192 0 478
OMIM 137 0 1 0 0 0 138
Natera, Inc. 2 0 59 19 16 0 96
Counsyl 2 29 28 1 0 0 60
Baylor Genetics 10 4 26 0 0 0 40
GeneReviews 35 0 0 0 1 0 36
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 3 20 0 1 0 30
Fulgent Genetics,Fulgent Genetics 9 4 16 0 0 0 29
Institute of Human Genetics, Klinikum rechts der Isar 16 13 0 0 0 0 29
Mendelics 5 6 2 1 4 0 18
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 12 0 16
SIB Swiss Institute of Bioinformatics 0 4 7 0 0 0 11
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 7 0 11
Institute of Human Genetics, University of Leipzig Medical Center 4 1 5 0 0 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 7 3 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 6 0 0 0 8
GenomeConnect, ClinGen 0 0 0 0 0 7 7
Génétique des Maladies du Développement, Hospices Civils de Lyon 4 2 0 1 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 1 3 0 0 0 6
Undiagnosed Diseases Network,NIH 3 1 2 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 0 3 0 0 0 5
SingHealth Duke-NUS Institute of Precision Medicine 1 2 1 0 0 0 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 0 2 0 0 0 4
Centro de Biología Molecular Severo Ochoa,Universidad Autónoma de Madrid 4 0 0 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 1 2 0 0 0 3
Experimental Epileptology, AG Lerche,Hertie Institute for Clinical Brain Research 0 3 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 2 0 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 0 0 2 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 1 1 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 1 1 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 0 0 0 2
Kids Research, The Children's Hospital at Westmead 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 1 0 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 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 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 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
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 1 0 1
NxGen MDx 0 1 0 0 0 0 1
Myriad Women's Health, Inc. 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Department of Medical Laboratory,Affiliated Hospital of Southwest Medical University 1 0 0 0 0 0 1
Geriatric Neurology,Shaanxi Provincial People's Hospital 1 0 0 0 0 0 1

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