ClinVar Miner

Variants studied for basal ganglia disorder

Included ClinVar conditions (83):
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
543 238 3965 3372 776 27 195 8598

Gene and significance breakdown #

Total genes and gene combinations: 119
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SYNJ1 29 11 631 540 44 0 1 1251
DCTN1 10 3 623 479 72 0 5 1142
ATP1A3 70 37 300 480 64 0 18 913
ATP13A2 41 23 429 381 50 0 3 861
LRRK2 10 3 481 266 100 2 117 834
SLC19A3 52 18 260 227 46 0 1 579
SLC6A3 8 6 129 199 33 0 0 364
PDGFRB 5 1 90 177 80 0 2 351
FBXO7 37 6 92 196 15 0 0 331
PINK1 31 8 161 94 20 1 3 291
DNAJC6 9 3 87 69 27 0 9 195
PRKN 40 14 86 21 18 0 3 171
VPS35 1 1 67 59 18 0 13 146
SLC20A2 23 19 37 16 32 0 2 116
PDE8B 3 1 40 9 44 0 0 97
PARK7 11 7 39 24 10 0 0 85
PRKRA 1 0 40 22 11 0 0 72
SNCA 10 3 23 28 4 0 1 65
SLC30A10 5 2 34 5 8 0 14 61
GBA1, LOC106627981 29 10 15 4 0 5 1 56
CHROMR, PRKRA 2 2 27 13 10 0 0 50
VPS13C 9 18 11 1 9 0 0 46
PLA2G6 14 8 26 1 0 0 0 45
MYORG 10 11 23 0 2 0 0 38
NR4A2 1 0 27 5 2 0 0 35
UCHL1 0 0 19 8 9 1 0 35
HTRA2 0 0 13 6 4 1 0 22
MIR6084, PINK1 1 0 11 4 1 0 0 16
TAF1 2 0 7 5 1 0 1 16
GIGYF2 0 1 3 2 7 5 0 15
MAPT 3 0 7 3 1 1 0 15
EIF4G1 0 0 6 3 3 2 0 14
HTRA2, LOXL3 0 0 9 2 4 0 0 14
LOC126859871, PRKN 6 1 4 2 2 0 1 13
LOC130000303, SLC20A2, SMIM19 0 0 12 0 1 0 0 13
PDGFB 5 4 4 0 0 0 0 13
PACRG, PRKN 2 2 7 1 0 0 0 12
SLC18A2 6 2 3 0 4 0 0 12
XPR1 4 1 4 1 1 0 0 11
ATP1A3, LOC130064543 0 0 6 4 1 0 0 10
AUP1, HTRA2 0 0 5 4 1 0 0 10
ATP13A2, LOC129929540 0 0 5 4 0 0 0 9
DDOST, PINK1 0 0 0 1 9 0 0 9
LOC129934941, NR4A2 0 0 8 1 0 0 0 9
WARS2 5 3 1 0 0 0 0 9
JAM2 8 0 0 0 0 0 0 8
GBA1 3 2 2 0 0 0 0 6
UQCRC1 2 1 3 0 0 0 0 6
TNR 0 0 5 0 0 0 0 5
ATP6AP2 1 0 1 2 0 0 0 4
CHCHD2 3 0 1 0 0 0 0 4
IFIH1 0 1 3 0 0 0 0 4
LOC130007688, LRRK2 0 0 2 2 0 0 0 4
PJVK, PRKRA 0 0 0 0 4 0 0 4
SLC20A2, SMIM19 0 0 2 0 2 0 0 4
TNK2 0 1 3 0 0 0 0 4
PODXL 0 0 3 0 0 0 0 3
RAB39B 2 0 1 0 0 0 0 3
ADH1C 0 0 1 0 0 1 0 2
CFAP298, SYNJ1 0 0 2 0 0 0 0 2
DNAJC13 1 0 1 1 0 0 0 2
GLUD2 0 0 2 0 1 0 0 2
HTRA2, LOC129934140 0 0 2 0 0 0 0 2
PTPA 2 0 0 0 0 0 0 2
RFC1 2 0 0 0 0 0 0 2
TBC1D24 2 0 0 0 0 0 0 2
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 0 1
AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, DDOST, ECE1, EIF4G3, EMC1, EPHA8, FAM43B, HP1BP3, HSPG2, HTR6, IFFO2, KIF17, LDLRAD2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, NBL1, NBPF3, OTUD3, PINK1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, RAP1GAP, RNF186, SH2D5, SLC66A1, TMCO4, UBR4, UBXN10, USP48, VWA5B1, WNT4, ZBTB40 0 0 1 0 0 0 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, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, URB1 0 0 1 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 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
BMPR2 0 0 1 0 0 0 0 1
C2orf83, SLC19A3 1 0 0 0 0 0 0 1
CACNA1A 0 0 1 0 0 0 0 1
CCSER1, FAM13A, GPRIN3, HERC3, HERC5, HERC6, LOC110121083, LOC111365205, LOC123477786, LOC126807107, LOC126807108, LOC126807109, LOC129389225, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, MMRN1, NAP1L5, PIGY, PIGY-DT, PPM1K, PPM1K-DT, PYURF, SNCA, TIGD2 1 0 0 0 0 0 0 1
CFAP298, CFAP298-TCP10L, LOC125418061, LOC130066544, LOC130066545, 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, LOC126806420, LOC126806421, LOC126806422, LOC126806423, LOC129935179, LOC129935180, LOC129935181, LOC129935182, LOC129935183, LOC129935184, LOC129935185, LOC129935186, PJVK, PLEKHA3, PRKRA, TTN 0 0 1 0 0 0 0 1
CLIC2, LOC130068896, LOC130068897, RAB39B 1 0 0 0 0 0 0 1
CLPTM1L, SLC6A3, TERT 1 0 0 0 0 0 0 1
CSF1R, LOC111188154 0 0 1 0 0 0 0 1
DNAH7 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
DUOX2 0 0 1 0 0 0 0 1
FGF20 0 0 1 0 0 0 0 1
GDF6 1 0 0 0 0 0 0 1
GRN 1 0 0 0 0 0 0 1
H3-3B 0 0 1 0 0 0 0 1
HTRA2, LOC129934143 0 0 1 0 0 0 0 1
LOC105378098, LOC121132714, LOC123881358, LOC126859868, LOC129389718, LOC129997634, LOC129997635, LOC129997636, PRKN 0 0 1 0 0 0 0 1
LOC108663996, TBP 0 0 0 0 0 1 0 1
LOC126859869, LOC126859870, LOC126859871, PRKN 1 0 0 0 0 0 0 1
LOC126859871, PACRG, PRKN 0 0 1 0 0 0 0 1
LOC126863256, WDR45 1 0 0 0 0 0 0 1
LOC129388752, SLC30A10 1 0 0 0 0 0 0 1
LOC129389225, MMRN1, SNCA 1 0 0 0 0 0 0 1
LOC129931299, WARS2 1 1 1 0 0 0 0 1
LOC129933272, PTRHD1 1 0 0 0 0 0 0 1
LOC129936713, UQCRC1 1 0 0 0 0 0 0 1
LOC129999375, PODXL 0 1 0 0 0 0 0 1
LOC130068896, LOC130068897, RAB39B 1 0 0 0 0 0 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
MYLK3, ORC6, VPS35 0 0 1 0 0 0 0 1
NDUFV2 0 0 1 0 0 0 0 1
ORC6, VPS35 0 0 0 0 1 0 0 1
PARK7, TNFRSF9 1 0 0 0 0 0 0 1
POLG, POLGARF 0 0 1 0 0 0 0 1
PSAP 1 0 0 0 0 0 0 1
SCN2A 0 1 0 0 0 0 0 1
SPG11 1 0 0 0 0 0 0 1
TNFRSF13B 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 133
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 261 73 2995 3135 489 0 0 6953
Illumina Laboratory Services, Illumina 7 4 714 160 348 0 0 1233
Fulgent Genetics, Fulgent Genetics 60 25 175 110 23 1 0 393
OMIM 181 0 9 0 1 25 0 216
GeneReviews 2 0 25 0 1 0 181 209
Genome-Nilou Lab 1 0 13 5 106 0 0 125
Baylor Genetics 15 8 26 0 0 0 0 48
Revvity Omics, Revvity 6 10 26 1 0 0 0 43
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 4 10 20 0 2 0 0 36
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 3 22 0 2 1 0 33
Mendelics 9 4 11 5 3 0 0 32
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 14 17 0 0 32
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 8 23 0 0 32
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 27 0 0 0 0 27
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 22 4 0 0 0 0 0 26
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 14 12 0 0 26
SIB Swiss Institute of Bioinformatics 1 7 16 0 0 0 0 24
Neuberg Centre For Genomic Medicine, NCGM 1 3 18 0 0 0 0 22
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 12 0 0 0 0 20
Institute of Human Genetics, University of Leipzig Medical Center 6 4 8 0 0 0 0 18
3billion 10 2 6 0 0 0 0 18
Centogene AG - the Rare Disease Company 8 3 6 0 0 0 0 17
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 9 0 0 0 3 0 14
Molecular Genetics, Royal Melbourne Hospital 4 1 5 1 2 0 0 13
Genetics and Molecular Pathology, SA Pathology 6 1 3 1 0 0 0 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 1 0 0 0 11
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 1 8 0 0 0 0 10
Undiagnosed Diseases Network, NIH 6 3 0 0 0 0 0 9
Laboratory of Medical Genetics, University of Torino 0 9 0 0 0 0 0 9
MGZ Medical Genetics Center 0 1 7 0 0 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 3 0 0 0 0 0 8
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 4 1 3 0 0 0 0 8
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 6 0 0 0 0 7
GenomeConnect, ClinGen 0 0 0 0 0 0 7 7
Genomics England Pilot Project, Genomics England 2 5 0 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 3 1 0 0 6
DST/NWU Preclinical Drug Development Platform, North-West University 0 0 5 0 0 0 0 5
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 2 3 0 0 0 0 5
Brain and Spine Institute, INSERM 5 0 0 0 0 0 0 5
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 4 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 5 5
Department of Neurology, Xijing Hospital, Fourth Military Medical University 1 1 3 0 0 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 2 0 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 2 0 0 0 0 4
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 1 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 1 2 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 0 0 0 0 3
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 1 0 0 0 0 3
Applied Translational Genetics Group, University of Auckland 2 1 0 0 0 0 0 3
Center for Personalized Medicine, Children's Hospital Los Angeles 0 0 3 0 0 0 0 3
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 2 0 0 0 0 0 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 0 0 0 0 3
Codex Genetics Limited 3 0 0 0 0 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 2 0 0 0 0 3
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 1 2 0 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 2
Institute for Human Genetics, University Medical Center Freiburg 2 0 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
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 1 0 0 0 0 2
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) 2 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 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
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 0 2 0 0 0 0 0 2
Institute for Pathophysiology, Universitaetsmedizin JGU Mainz 1 1 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 0 2 0 0 0 0 0 2
ICM, Inserm 0 1 1 0 0 0 0 2
Research Unit of Clinical Neuroscience, Medical Research Center Oulu, University of Oulu 2 0 0 0 0 0 0 2
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
Randwick Genomics Laboratory, Prince of Wales Hospital Sydney, Australia, New South Wales Health Pathology 1 0 0 0 0 0 0 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 1 0 0 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 1 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 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
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 0 1
Department of Medical Biochemistry and Genetics, University of Turku 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 1 0 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 0 1
TIDEX, University of British Columbia 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 1 0 0 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 0 0 0 1
Laboratorio de Biología Molecular, FLENI 1 0 0 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
Johns Hopkins Genomics, Johns Hopkins University 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
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 1 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 1 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 0 1
Neurology Laboratory, National Cheng Kung University Hospital 1 0 0 0 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 1 0 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 1 0 0 0 0 0 0 1
Population Bio, Inc. 1 0 0 0 0 0 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 0 1
Geriatric Neurology, Shaanxi Provincial People's Hospital 1 0 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University 1 0 0 0 0 0 0 1
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology 0 0 1 0 0 0 0 1
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital 1 0 0 0 0 0 0 1
Pediatric Metabolism Laboratory, Institute of Child Health, Hacettepe University 0 1 0 0 0 0 0 1
Shengli Clinical Medical College Of Fujian Medical University, Fujian Provincial Hospital 1 0 0 0 0 0 0 1
Institute of Neurogenetics, University of Luebeck 0 1 0 0 0 0 0 1
Coban-Akdemir Lab, University of Texas Health Science Center 0 0 1 0 0 0 0 1

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