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 |
not provided |
total |
186
|
62
|
508
|
402
|
78
|
3
|
1194
|
Gene and significance breakdown #
Total genes and gene combinations: 32
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
GRN
|
88
|
14
|
277
|
216
|
25
|
3
|
591
|
MAPT
|
26
|
10
|
113
|
102
|
30
|
0 |
273
|
PSEN1
|
62
|
19
|
89
|
60
|
13
|
0 |
239
|
GRN, LOC125177489
|
8
|
0 |
10
|
12
|
1
|
0 |
30
|
TARDBP
|
0 |
1
|
5
|
3
|
0 |
0 |
9
|
CHMP2B
|
0 |
0 |
5
|
3
|
0 |
0 |
8
|
CHMP2B, POU1F1
|
0 |
0 |
0 |
2
|
6
|
0 |
8
|
MASP2, TARDBP
|
0 |
0 |
0 |
3
|
3
|
0 |
6
|
SETX
|
0 |
3
|
0 |
0 |
0 |
0 |
3
|
CHRNB4
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
MARCHF4
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
MEF2C
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
TREM2
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
ANG, EGILA, RNASE4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARSA
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
ASB16, ATXN7L3, G6PC3, GRN, HDAC5, HROB, LSM12, RUNDC3A, SLC25A39, SLC4A1, TMUB2, UBTF
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CCNF
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CHMP2B, LOC129937085
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CHRNA4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CRHR1, KANSL1, MAPT, SPPL2C, STH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
CSF1R
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
DCTN1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ERBB4
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
FAM171A2, GRN
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
FUS
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GLT8D1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
HNRNPA2B1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC108903148, OPTN
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LRRK2
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
MAPT, STH
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
TBK1
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TUBB4A
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
Labcorp Genetics (formerly Invitae), Labcorp
|
133
|
26
|
444
|
373
|
64
|
0 |
1040
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
42
|
28
|
16
|
0 |
86
|
Fulgent Genetics, Fulgent Genetics
|
6
|
2
|
30
|
11
|
2
|
0 |
51
|
OMIM
|
37
|
0 |
0 |
0 |
0 |
0 |
37
|
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
|
18
|
2
|
0 |
0 |
0 |
0 |
20
|
Human Genetics Group at Institute of Prion Diseases London, University College London
|
9
|
5
|
0 |
0 |
0 |
0 |
14
|
Guerreiro-Bras Laboratory, Van Andel Institute
|
0 |
14
|
0 |
0 |
0 |
0 |
14
|
Mendelics
|
7
|
1
|
1
|
1
|
3
|
0 |
13
|
Athena Diagnostics
|
0 |
0 |
0 |
0 |
7
|
0 |
7
|
Translational Genetics in Neurodegenerative disease, Karolinska Institutet
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
6
|
0 |
0 |
0 |
0 |
0 |
6
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
4
|
0 |
1
|
0 |
0 |
0 |
5
|
Molecular Genetics, Royal Melbourne Hospital
|
3
|
0 |
2
|
0 |
0 |
0 |
5
|
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences
|
3
|
2
|
0 |
0 |
0 |
0 |
5
|
MGZ Medical Genetics Center
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
3
|
3
|
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre
|
0 |
0 |
2
|
1
|
0 |
0 |
3
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
2
|
0 |
0 |
0 |
3
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Institute of Human Genetics, University of Leipzig Medical Center
|
2
|
0 |
1
|
0 |
0 |
0 |
3
|
Juno Genomics, Hangzhou Juno Genomics, Inc
|
1
|
0 |
2
|
0 |
0 |
0 |
3
|
Baylor Genetics
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Myllykangas group, University of Helsinki
|
0 |
0 |
1
|
1
|
0 |
0 |
2
|
Department of Pathology and Laboratory Medicine, Sinai Health System
|
0 |
0 |
2
|
0 |
0 |
0 |
2
|
Kariminejad - Najmabadi Pathology & Genetics Center
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Clinical Genetics Laboratory, Skane University Hospital Lund
|
1
|
0 |
1
|
0 |
0 |
0 |
2
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
2
|
0 |
2
|
Neuberg Centre For Genomic Medicine, NCGM
|
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara
|
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Institute of Human Genetics, University Hospital of Duesseldorf
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Department of Medicine, Surgery and Dentistry, Scuola Medica Salernitana, University of Salerno
|
0 |
1
|
0 |
0 |
0 |
0 |
1
|
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