ClinVar Miner

Variants studied for basal ganglia disease

Included ClinVar conditions (54):
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 risk factor not provided total
262 32 919 278 202 27 4 1608

Gene and significance breakdown #

Total genes and gene combinations: 68
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LRRK2 16 1 204 46 20 1 0 248
DCTN1 10 0 147 55 21 0 0 219
SYNJ1 5 1 123 32 17 0 0 177
ATP1A3 25 2 78 49 21 0 0 160
ATP13A2 14 3 109 20 21 0 2 155
SLC19A3 21 2 45 12 13 0 0 88
PRKN 37 4 22 5 14 0 0 77
SLC20A2 12 10 13 29 9 0 0 67
SLC6A3 6 1 27 11 15 0 0 56
SLC30A10 15 0 22 2 2 0 0 41
PINK1 18 0 15 0 4 1 1 39
PDGFRB 2 1 11 0 14 0 0 28
FBXO7 6 0 10 4 6 0 0 24
DNAJC6 6 0 9 3 4 0 0 22
VPS35 1 0 17 2 1 0 0 21
PARK7 7 1 6 1 2 0 0 17
PLA2G6 7 2 7 0 0 0 0 15
GBA, LOC106627981 7 0 5 0 0 4 1 14
GIGYF2 0 1 0 3 7 5 0 13
SLC20A2, SMIM19 0 0 7 2 1 0 0 10
SNCA 8 0 1 0 1 0 0 10
CHROMR, PRKRA 1 0 4 2 2 0 0 9
VPS13C 6 0 2 0 0 0 0 8
MAPT 3 0 2 0 0 1 0 6
PRKRA 1 0 4 0 1 0 0 6
EIF4G1 0 0 0 0 3 2 0 5
PDGFB 5 0 0 0 0 0 0 5
TNR 0 0 5 0 0 0 0 5
XPR1 4 0 1 0 0 0 0 5
PACRG, PRKN 1 0 3 0 0 0 0 4
PODXL 0 1 3 0 0 0 0 4
TNK2 0 1 3 0 0 0 0 4
CHCHD2 3 0 0 0 0 0 0 3
PDE8B 3 0 0 0 0 0 0 3
TAF1 2 0 1 0 0 0 0 3
ATP6AP2 1 0 1 0 0 0 0 2
HTRA2 0 0 0 0 0 2 0 2
NR4A2 0 0 2 0 0 0 0 2
RAB39B 2 0 0 0 0 0 0 2
UCHL1 0 0 1 0 1 1 0 2
ADH1C 0 0 0 0 0 1 0 1
ATXN2 0 0 0 0 0 1 0 1
ATXN3, LOC108663987 0 0 0 0 0 1 0 1
ATXN8, ATXN8OS 0 0 0 0 0 1 0 1
C21orf59-TCP10L, CFAP298, SYNJ1 0 0 1 0 0 0 0 1
CHRNA6, CHRNB3, FNTA, HOOK3, RNF170, SLC20A2, SMIM19, THAP1 0 1 0 0 0 0 0 1
CHROMR, FKBP7, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 0 1
CLIC2, RAB39B 1 0 0 0 0 0 0 1
DBH 0 0 0 0 1 0 0 1
DNAJC13 1 0 1 0 0 0 0 1
FGF20 0 0 1 0 0 0 0 1
G6PD 0 0 1 0 0 0 0 1
GBA 1 0 0 0 0 0 0 1
GLUD2 1 0 0 0 0 0 0 1
HTRA2, LOXL3 0 0 0 0 0 1 0 1
LOC105378098, PRKN 0 0 1 0 0 0 0 1
MGC32805, SNCAIP 0 0 1 0 0 0 0 1
MIR6084, PINK1 0 0 0 0 1 0 0 1
MT-ND1 1 0 0 0 0 0 0 1
MT-ND5 0 0 0 0 0 1 0 1
MT-ND6 0 0 0 0 0 1 0 1
MT-TK 1 0 0 0 0 0 0 1
MT-TP 0 0 0 0 0 1 0 1
MT-TT 0 0 0 0 0 1 0 1
NDUFV2 0 0 1 0 0 0 0 1
PJVK, PRKRA 0 0 1 0 0 0 0 1
SLC18A2 1 0 0 0 0 0 0 1
TBP 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 58 9 550 135 143 0 0 894
Illumina Clinical Services Laboratory,Illumina 5 2 191 126 33 0 0 357
GeneReviews 60 0 139 0 4 0 0 203
OMIM 148 0 7 0 1 27 0 183
Fulgent Genetics,Fulgent Genetics 18 2 17 0 0 0 0 37
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 9 23 0 0 33
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 14 17 0 0 32
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 14 12 0 0 26
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 0 10
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 8 0 0 0 0 9
Laboratory of Medical Genetics,University of Torino 0 9 0 0 0 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 0 6 0 0 0 0 7
Neurogenetic Laboratory,Oslo University Hospital 0 0 6 0 0 0 0 6
DST/NWU Preclinical Drug Development Platform,North-West University 0 0 5 0 0 0 0 5
Laboratory of Metabolic Disorders,Peking University First Hospital 5 0 0 0 0 0 0 5
Brain and Spine Institute,INSERM 5 0 0 0 0 0 0 5
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 1 0 3 0 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 4 0 0 0 0 0 0 4
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 1 3 0 0 0 0 4
Undiagnosed Diseases Network,NIH 4 0 0 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 1 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
Athena Diagnostics Inc 0 0 0 0 2 0 0 2
Institute for Human Genetics,University Clinic Freiburg 2 0 0 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 0 2
Applied Translational Genetics Group,University of Auckland 2 0 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 0 0 0 0 0 2
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 1 0 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 0 1
Neurogenetics Research; Murdoch Childrens Research Institute 1 0 0 0 0 0 0 1
CVG, University of British Columbia 1 0 0 0 0 0 0 1
SNPedia 1 0 0 0 0 0 0 1
Centre for Genetic Disorders, Banaras Hindu University 0 0 0 0 0 0 1 1
Rademakers Lab,Mayo Clinic 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 0 1
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS 1 0 0 0 0 0 0 1
Department of Medical Biochemistry and Genetics,University of Turku 0 1 0 0 0 0 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1

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