ClinVar Miner

Variants studied for Parkinson disease

Included ClinVar conditions (32):
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
138 15 460 116 103 27 3 796

Gene and significance breakdown #

Total genes and gene combinations: 46
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
LRRK2 16 0 195 46 20 1 0 239
SYNJ1 5 1 82 32 17 0 0 136
ATP13A2 12 3 87 20 21 0 2 131
PRKN 33 5 19 5 14 0 0 74
PINK1 15 0 11 0 4 1 1 32
VPS35 1 0 16 2 1 0 0 20
FBXO7 5 0 5 4 6 0 0 18
DNAJC6 5 0 4 3 4 0 0 16
PLA2G6 7 2 7 0 0 0 0 15
GBA, LOC106627981 7 0 5 0 0 4 0 14
PARK7 7 1 3 1 2 0 0 14
GIGYF2 0 1 0 3 7 5 0 13
SNCA 7 0 0 0 1 0 0 8
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
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
PACRG, PRKN 1 0 2 0 0 0 0 3
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
C21orf59-TCP10L, CFAP298, SYNJ1 0 0 1 0 0 0 0 1
DBH 0 0 0 0 1 0 0 1
DNAJC13 1 0 1 0 0 0 0 1
FGF20 0 0 1 0 0 0 0 1
GBA 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: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 27 6 175 61 64 0 0 333
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 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
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
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
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 1 3 0 0 0 0 4
Baylor Miraca Genetics Laboratories, 2 1 0 0 0 0 0 3
Institute of Human Genetics,Klinikum rechts der Isar 3 0 0 0 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 3 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
GenomeConnect, ClinGen 0 0 0 0 0 0 2 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
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 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
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

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