ClinVar Miner

Variants studied for combined dystonia

Included ClinVar conditions (34):
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
209 53 391 134 87 5 839

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ATP1A3 25 4 78 49 21 0 161
TH 14 31 54 7 4 1 104
PRRT2 29 4 48 12 8 0 100
CASD1, SGCE 27 3 48 10 10 0 96
CATIP, PNKD 0 0 52 29 17 0 95
GCH1 38 2 18 1 1 0 59
SLC6A3 6 1 27 11 15 0 56
SLC2A1 15 3 6 0 0 2 26
PNKD 3 0 15 5 2 0 22
PLA2G6 7 2 7 0 0 0 15
SGCE 3 0 8 3 0 0 14
SPR 10 1 3 0 0 0 14
KCTD17 1 0 11 0 1 0 13
CHROMR, PRKRA 1 0 5 2 2 0 10
SLC39A14 8 0 0 0 0 0 8
INS, INS-IGF2, TH 0 0 0 2 5 0 7
MECR 6 0 1 0 0 2 7
PRKRA 1 0 4 0 1 0 6
ATM, C11orf65 5 0 0 0 0 0 5
DNAJC12 4 0 0 0 0 0 4
INS, TH 0 0 1 3 0 0 4
TAF1 2 0 1 0 0 0 3
SLC18A2 1 1 0 0 0 0 2
ASPHD1, CDIPT, CDIPTOSP, LOC112352680, MVP, PAGR1, PRRT2, SEZ6L2 1 0 0 0 0 0 1
ATM 1 0 0 0 0 0 1
CASD1, COL1A2, SGCE 1 0 0 0 0 0 1
CHROMR, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 1
DRD2 0 0 1 0 0 0 1
GCH1, MIR4308 0 0 1 0 0 0 1
MVP, PRRT2 0 1 0 0 0 0 1
PJVK, PRKRA 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
Invitae 69 9 270 67 59 0 474
Illumina Clinical Services Laboratory,Illumina 1 0 70 63 23 0 157
OMIM 123 0 1 0 0 0 124
Counsyl 3 29 28 1 0 0 61
GeneReviews 30 0 0 0 1 0 31
Fulgent Genetics,Fulgent Genetics 9 4 16 0 0 0 29
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 12 0 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 7 0 11
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
Baylor Genetics 4 2 1 0 0 0 7
Athena Diagnostics Inc 0 0 0 0 5 0 5
GenomeConnect, ClinGen 0 0 0 0 0 5 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 2 0 2 0 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 1 2 1 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 0 0 0 3
Undiagnosed Diseases Network,NIH 1 0 2 0 0 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 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
Department of Genetics,Sultan Qaboos University Hospital, Oman 1 0 1 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
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 0 1
Applied Translational Genetics Group,University of Auckland 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
Laboratoire de Cytogenetique,Hospices Civils de Lyon 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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