ClinVar Miner

Variants studied for Parkinson disease

Included ClinVar conditions (33):
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
155 20 557 74 57 27 4 839

Gene and significance breakdown #

Total genes and gene combinations: 48
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LRRK2 16 1 206 42 13 1 0 247
ATP13A2 14 3 110 14 12 0 2 148
SYNJ1 5 1 122 5 3 0 0 136
PRKN 38 5 22 1 5 0 0 68
PINK1 18 1 15 0 3 1 1 38
FBXO7 6 0 10 4 4 0 0 23
VPS35 1 0 17 2 0 0 0 20
DNAJC6 6 0 9 1 2 0 0 18
PARK7 7 3 6 1 1 0 0 18
GBA, LOC106627981 9 0 5 0 0 4 1 15
PLA2G6 7 3 7 0 0 0 0 15
GIGYF2 0 1 0 3 7 5 0 13
SNCA 8 0 1 0 0 0 0 9
VPS13C 6 0 2 0 0 0 0 8
MAPT 3 0 2 0 0 1 0 6
EIF4G1 0 0 0 0 3 2 0 5
TNR 0 0 5 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
DNAJC13 1 0 1 1 0 0 0 2
GBA 2 0 0 0 0 0 0 2
HTRA2 0 0 0 0 0 2 0 2
NR4A2 0 0 2 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
CFAP298, CFAP298-TCP10L, SYNJ1 0 0 1 0 0 0 0 1
DBH 0 0 0 0 1 0 0 1
DDOST, PINK1 0 0 0 0 1 0 0 1
FGF20 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
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
TBP 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 38
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 40 6 271 16 16 0 0 349
Illumina Clinical Services Laboratory,Illumina 4 2 105 46 19 0 0 176
GeneReviews 16 0 139 0 4 0 0 159
OMIM 89 0 7 0 1 27 0 124
Fulgent Genetics,Fulgent Genetics 14 2 11 0 0 0 0 27
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 1 8 15 0 0 24
Mendelics 1 0 11 3 0 0 0 15
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 1 2 10 0 0 13
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 8 0 0 12
Institute of Human Genetics,Klinikum rechts der Isar 9 0 0 0 0 0 0 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 8 0 0 0 0 9
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
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
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
Baylor Genetics 2 1 0 0 0 0 0 3
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
GenomeConnect, ClinGen 0 0 0 0 0 0 3 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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 2 0 0 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 1 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 0 2
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
Hadassah Hebrew University Medical Center 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
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 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.