ClinVar Miner

Variants studied for basal ganglia disease

Included ClinVar conditions (61):
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
351 83 2105 758 544 29 4 3635

Gene and significance breakdown #

Total genes and gene combinations: 85
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SYNJ1 13 3 344 117 21 0 0 497
DCTN1 10 0 264 107 58 0 0 416
ATP1A3 38 12 173 136 49 0 0 383
LRRK2 16 1 267 60 64 2 0 343
ATP13A2 18 8 193 79 39 0 2 301
SLC19A3 29 5 163 57 41 0 0 279
PRKN 45 12 89 16 22 0 0 175
PINK1 21 2 79 14 14 1 1 123
SLC6A3 7 3 47 37 22 0 0 111
SLC20A2 14 11 29 16 32 0 0 92
PDGFRB 4 1 25 24 33 0 0 87
FBXO7 6 0 50 10 11 0 0 70
VPS35 1 0 47 13 9 0 0 66
PDE8B 3 0 23 8 30 0 0 64
SLC30A10 15 0 31 5 8 0 0 59
DNAJC6 12 0 19 15 7 0 0 53
PARK7 7 5 24 5 7 0 0 46
NR4A2 0 0 35 6 2 0 0 43
CHROMR, PRKRA 1 1 19 4 8 0 0 33
UCHL1 0 0 19 5 9 1 0 33
PDE8B, WDR41 0 0 17 1 14 0 0 32
MYORG 9 7 16 0 0 0 0 26
HTRA2 0 0 15 4 4 2 0 24
GBA, LOC106627981 14 1 5 0 0 5 1 22
PJVK, PRKRA 0 0 13 1 4 0 0 18
SNCA 8 0 6 4 1 0 0 18
SLC20A2, SMIM19 0 0 14 0 3 0 0 17
PRKRA 1 0 8 1 6 0 0 16
GIGYF2 0 1 2 3 7 5 0 15
PLA2G6 7 3 7 0 0 0 0 15
HTRA2, LOXL3 0 0 8 2 4 1 0 14
PACRG, PRKN 1 1 9 1 0 0 0 12
VPS13C 7 1 4 0 0 0 0 12
AUP1, HTRA2 0 0 5 4 1 0 0 10
DDOST, PINK1 0 0 0 1 9 0 0 9
JAM2 8 0 0 0 0 0 0 8
PDGFB 5 1 1 0 0 0 0 7
EIF4G1 0 0 1 0 3 2 0 6
MAPT 3 0 2 0 0 1 0 6
XPR1 4 0 2 0 0 0 0 6
TNR 0 0 5 0 0 0 0 5
MIR6084, PINK1 0 0 3 1 1 0 0 4
PODXL 0 1 3 0 0 0 0 4
TAF1 2 0 2 0 0 0 0 4
TNK2 0 1 3 0 0 0 0 4
CHCHD2 3 0 0 0 0 0 0 3
GBA 3 1 0 0 0 0 0 3
ATP6AP2 1 0 1 0 0 0 0 2
DNAJC13 1 0 1 1 0 0 0 2
RAB39B 2 0 0 0 0 0 0 2
SLC18A2 1 0 1 0 0 0 0 2
ADH1C 0 0 0 0 0 1 0 1
ATP5PO, C21orf62, CFAP298, CLIC6, CRYZL1, DNAJC28, DONSON, EVA1C, GART, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, MIS18A, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, RCAN1, RUNX1, SCAF4, SLC5A3, SMIM11A, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, URB1 0 0 1 0 0 0 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
C2orf83, SLC19A3 1 0 0 0 0 0 0 1
CCSER1, FAM13A, GPRIN3, HERC3, HERC5, HERC6, LOC110121083, LOC111365205, MMRN1, NAP1L5, PIGY, PIGY-DT, PPM1K, PPM1K-DT, PYURF, SNCA, TIGD2 1 0 0 0 0 0 0 1
CFAP298, CFAP298-TCP10L, SYNJ1 0 0 1 0 0 0 0 1
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
CLPTM1L, SLC6A3, TERT 1 0 0 0 0 0 0 1
DNAJB6 0 1 0 0 0 0 0 1
DTD2, GPR33, HEATR5A, NUBPL 1 0 0 0 0 0 0 1
FGF20 0 0 1 0 0 0 0 1
G6PD 0 0 1 0 0 0 0 1
GDF6 1 0 0 0 0 0 0 1
GLUD2 1 0 0 0 0 0 0 1
H3-3B 0 0 1 0 0 0 0 1
KCNQ1 0 0 1 0 0 0 0 1
LOC105378098, LOC121132714, PRKN 0 0 1 0 0 0 0 1
LOC108663996, TBP 0 0 0 0 0 1 0 1
MGC32805, SNCAIP 0 0 1 0 0 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
ORC6, VPS35 0 0 0 0 1 0 0 1
PSAP 1 0 0 0 0 0 0 1
WDR45 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 72
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 93 16 1195 580 245 0 0 2129
Illumina Clinical Services Laboratory,Illumina 5 2 707 160 348 0 0 1222
GeneReviews 69 0 139 0 4 0 0 212
OMIM 166 0 7 0 0 27 0 200
Fulgent Genetics,Fulgent Genetics 36 13 17 0 0 1 0 66
Baylor Genetics 14 5 17 0 0 0 0 36
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 2 21 0 2 0 0 30
Mendelics 4 3 12 4 3 0 0 26
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 14 12 0 0 26
SIB Swiss Institute of Bioinformatics 1 7 16 0 0 0 0 24
Institute of Human Genetics, Klinikum rechts der Isar 14 3 0 0 0 0 0 17
Institute of Human Genetics, University of Leipzig Medical Center 3 2 8 0 0 0 0 13
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
Laboratory of Metabolic Disorders, Peking University First Hospital 6 0 0 0 0 0 0 6
Undiagnosed Diseases Network,NIH 6 0 0 0 0 0 0 6
Broad Institute Rare Disease Group, Broad Institute 0 0 2 3 1 0 0 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 0 0 0 0 3 0 5
DST/NWU Preclinical Drug Development Platform,North-West University 0 0 5 0 0 0 0 5
Brain and Spine Institute,INSERM 5 0 0 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 1 0 3 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 2 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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 3 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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 0 0 3
Codex Genetics Limited 3 0 0 0 0 0 0 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
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 1 0 0 0 0 0 2
Hadassah Hebrew University Medical Center 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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 1 0 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 0 0 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 2 0 0 0 0 2
Institute for Pathophysiology,Universitaetsmedizin JGU Mainz 1 1 0 0 0 0 0 2
ICM,Inserm 0 1 1 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 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
Blueprint Genetics 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
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
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 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
Molecular Diagnostics Laboratory, M Health Fairview: 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
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 1 0 0 0 0 0 0 1
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong 1 0 0 0 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 1 0 0 0 0 1
Section for Clinical Neurogenetics,University of Tübingen 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Population Bio, Inc. 1 0 0 0 0 0 0 1

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