ClinVar Miner

Variants studied for Parkinson disease

Included ClinVar conditions (41):
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
304 110 2298 1732 359 27 152 4657

Gene and significance breakdown #

Total genes and gene combinations: 72
Download table as spreadsheet
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
ATP13A2 41 23 428 381 50 0 3 860
LRRK2 10 3 477 266 100 2 117 831
FBXO7 37 6 92 196 15 0 0 331
PINK1 31 7 160 94 20 1 3 290
DNAJC6 9 3 87 69 27 0 9 195
PRKN 40 13 86 20 17 0 3 170
VPS35 1 1 67 59 18 0 13 146
PARK7 10 7 39 24 10 0 0 85
SNCA 10 3 22 28 4 0 1 64
GBA1, LOC106627981 29 10 15 4 0 5 1 56
PLA2G6 14 8 26 1 0 0 0 45
VPS13C 9 6 11 1 9 0 0 36
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
GIGYF2 0 1 3 2 7 5 0 15
HTRA2, LOXL3 0 0 9 2 4 0 0 14
MAPT 3 0 6 3 1 1 0 14
EIF4G1 0 0 5 3 3 2 0 13
LOC126859871, PRKN 6 1 4 2 2 0 1 13
PACRG, PRKN 2 2 7 1 0 0 0 12
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
GBA1 3 2 2 0 0 0 0 6
TNR 0 0 5 0 0 0 0 5
CHCHD2 3 0 1 0 0 0 0 4
LOC130007688, LRRK2 0 0 2 2 0 0 0 4
TNK2 0 1 3 0 0 0 0 4
PODXL 0 0 3 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
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
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
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
GDF6 1 0 0 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
LOC129389225, MMRN1, SNCA 1 0 0 0 0 0 0 1
LOC129999375, PODXL 0 1 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
SPG11 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 87
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 143 35 1701 1577 256 0 0 3712
Illumina Laboratory Services, Illumina 6 2 464 107 131 0 0 710
Fulgent Genetics, Fulgent Genetics 54 23 144 74 18 1 0 313
GeneReviews 0 0 25 0 1 0 144 170
OMIM 90 0 9 0 1 25 0 125
Genome-Nilou Lab 1 0 13 5 39 0 0 58
Baylor Genetics 7 3 15 0 0 0 0 25
Revvity Omics, Revvity 4 6 15 0 0 0 0 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 8 15 0 0 24
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 17 1 0 0 0 0 0 18
Mendelics 3 0 10 4 0 0 0 17
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 3 11 0 0 0 0 14
Centogene AG - the Rare Disease Company 7 2 3 0 0 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 4 8 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 1 10 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 10 0 0 0 0 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 7 0 0 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 8 0 0 0 0 9
Genetics and Molecular Pathology, SA Pathology 6 0 3 0 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 2 3 4 0 0 0 0 9
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 4 1 3 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 0 7
3billion 6 1 0 0 0 0 0 7
Neurogenetic Laboratory, Oslo University Hospital 0 0 6 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 0 0 0 0 3 0 5
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 0 0 0 0 0 0 5
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
Genomics England Pilot Project, Genomics England 1 4 0 0 0 0 0 5
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus 0 1 3 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 3 1 0 0 4
Molecular Genetics, Royal Melbourne Hospital 1 1 2 0 0 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 3 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 2 1 0 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 2 0 0 0 0 0 3
Department of Neurology, Xijing Hospital, Fourth Military Medical University 1 0 2 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 0 2
Institute for Human Genetics, University Medical Center Freiburg 2 0 0 0 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 1 0 1 0 0 0 0 2
Hadassah Hebrew University Medical Center 1 1 0 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 0 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 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 Pathophysiology, Universitaetsmedizin JGU Mainz 1 1 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 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
Athena Diagnostics Inc 0 0 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 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
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
UCLA Clinical Genomics Center, UCLA 0 1 0 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
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 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
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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 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
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.