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 |
total |
28
|
7
|
58
|
6
|
3
|
10
|
106
|
Gene and significance breakdown #
Total genes and gene combinations: 24
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
NR4A2
|
1
|
0 |
27
|
5
|
2
|
0 |
35
|
GBA1, LOC106627981
|
18
|
4
|
8
|
0 |
0 |
5
|
31
|
LOC129934941, NR4A2
|
0 |
0 |
8
|
1
|
0 |
0 |
9
|
LRRK2
|
2
|
0 |
2
|
0 |
0 |
0 |
4
|
GBA1
|
2
|
2
|
0 |
0 |
0 |
0 |
3
|
PODXL
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
GLUD2
|
0 |
0 |
2
|
0 |
1
|
0 |
2
|
MAPT
|
0 |
0 |
1
|
0 |
0 |
1
|
2
|
PINK1
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
ADH1C
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ATXN2, LOC130008791, LOC130008792
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
ATXN3, LOC108663987
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
ATXN8, ATXN8OS
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
DNAJB6
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DNAJC13
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
DTD2, GPR33, HEATR5A, NUBPL
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FGF20
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LOC108663996, TBP
|
0 |
0 |
0 |
0 |
0 |
1
|
1
|
MGC32805, SNCAIP
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MT-ND1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
PARK7
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
PSAP
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
RFC1
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
VPS35
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
total |
Illumina Laboratory Services, Illumina
|
1
|
0 |
32
|
6
|
2
|
0 |
41
|
OMIM
|
1
|
0 |
4
|
0 |
1
|
9
|
15
|
Fulgent Genetics, Fulgent Genetics
|
12
|
1
|
0 |
0 |
0 |
1
|
14
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
7
|
0 |
0 |
0 |
0 |
0 |
7
|
Neurogenetic Laboratory, Oslo University Hospital
|
0 |
0 |
6
|
0 |
0 |
0 |
6
|
DST/NWU Preclinical Drug Development Platform, North-West University
|
0 |
0 |
5
|
0 |
0 |
0 |
5
|
Neuberg Centre For Genomic Medicine, NCGM
|
1
|
0 |
4
|
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
0 |
3
|
1
|
0 |
0 |
0 |
4
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
2
|
0 |
0 |
0 |
1
|
0 |
3
|
Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus
|
0 |
0 |
3
|
0 |
0 |
0 |
3
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Institute for Pathophysiology, Universitaetsmedizin JGU Mainz
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Mendelics
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CVG, University of British Columbia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
SNPedia
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Zabetian_UW Neurogenetics Lab, University of Washington/VAPSHCS
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Population Bio, Inc.
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
3billion
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Research Unit of Clinical Medicine, Medical Research Center Oulu, University of Oulu
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
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