ClinVar Miner

Variants studied for Parkinson disease

Included ClinVar conditions (43):
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
314 132 2327 1736 360 27 152 4711

Gene and significance breakdown #

Total genes and gene combinations: 72
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SYNJ1 30 11 632 542 44 0 1 1253
ATP13A2 41 25 429 382 50 0 3 863
LRRK2 10 4 485 266 100 2 117 838
FBXO7 39 6 92 196 15 0 0 333
PINK1 32 9 162 94 20 1 3 294
DNAJC6 9 3 89 69 27 0 9 197
PRKN 40 15 87 21 18 0 3 173
VPS35 1 1 67 59 18 0 13 146
PARK7 12 6 41 24 10 0 0 87
SNCA 10 3 23 28 4 0 1 65
GBA1, LOC106627981 30 11 16 4 0 5 1 58
VPS13C 10 19 16 1 9 0 0 53
PLA2G6 16 9 26 1 0 0 0 48
UCHL1 0 1 19 8 9 1 0 36
NR4A2 1 0 27 5 2 0 0 35
HTRA2 0 0 13 6 4 1 0 22
EIF4G1 0 0 8 3 3 2 0 16
MAPT 3 0 8 3 1 1 0 16
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
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, CFAP298, CLIC6, CRYZL1, DNAJC28, DONSON, EPCIP, 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 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: 94
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 148 34 1705 1577 256 0 0 3720
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 5 7 17 0 2 0 0 31
Neuberg Centre For Genomic Medicine, NCGM 2 4 24 0 0 0 0 30
Baylor Genetics 8 3 18 0 0 0 0 29
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 9 0 0 0 3 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 7 0 0 0 0 10
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 10 0 0 0 0 10
3billion 6 1 0 3 0 0 0 10
Molecular Genetics, Royal Melbourne Hospital 2 1 4 1 2 0 0 10
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 4 0 0 0 0 9
Juno Genomics, Hangzhou Juno Genomics, Inc 5 3 0 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
Neurogenetic Laboratory, Oslo University Hospital 0 0 6 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
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
Solve-RD Consortium 0 5 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
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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 1 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
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 of Human Genetics, University of Goettingen 0 1 1 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
Clinical Genomics Laboratory, Washington University in St. Louis 1 1 0 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
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
Human Genetics Laboratory, State University of Rio de Janeiro 1 0 1 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
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu 2 0 0 0 0 0 0 2
Athena Diagnostics 0 0 0 0 1 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 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
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
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 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
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 1 0 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

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