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 |
total |
42
|
31
|
116
|
101
|
40
|
326
|
Gene and significance breakdown #
Total genes and gene combinations: 27
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
MAPT
|
24
|
7
|
96
|
89
|
30
|
242
|
GRN
|
14
|
2
|
3
|
0 |
0 |
19
|
TARDBP
|
0 |
1
|
5
|
3
|
0 |
9
|
CHMP2B
|
0 |
0 |
5
|
3
|
0 |
8
|
CHMP2B, POU1F1
|
0 |
0 |
0 |
2
|
6
|
8
|
PSEN1
|
2
|
4
|
1
|
0 |
1
|
8
|
MASP2, TARDBP
|
0 |
0 |
0 |
3
|
3
|
6
|
SETX
|
0 |
3
|
0 |
0 |
0 |
3
|
CHRNB4
|
0 |
2
|
0 |
0 |
0 |
2
|
MARCHF4
|
0 |
0 |
1
|
1
|
0 |
2
|
MEF2C
|
0 |
1
|
1
|
0 |
0 |
2
|
TREM2
|
1
|
1
|
0 |
0 |
0 |
2
|
ANG, EGILA, RNASE4
|
0 |
1
|
0 |
0 |
0 |
1
|
ARSA
|
0 |
0 |
1
|
0 |
0 |
1
|
CCNF
|
0 |
1
|
0 |
0 |
0 |
1
|
CHMP2B, LOC129937085
|
0 |
0 |
1
|
0 |
0 |
1
|
CHRNA4
|
0 |
1
|
0 |
0 |
0 |
1
|
CRHR1, KANSL1, MAPT, SPPL2C, STH
|
0 |
0 |
1
|
0 |
0 |
1
|
CSF1R
|
0 |
1
|
0 |
0 |
0 |
1
|
DCTN1
|
0 |
1
|
0 |
0 |
0 |
1
|
ERBB4
|
0 |
1
|
0 |
0 |
0 |
1
|
FUS
|
0 |
1
|
0 |
0 |
0 |
1
|
GLT8D1
|
0 |
1
|
0 |
0 |
0 |
1
|
GRN, LOC125177489
|
1
|
0 |
0 |
0 |
0 |
1
|
HNRNPA2B1
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC108903148, OPTN
|
0 |
1
|
0 |
0 |
0 |
1
|
MAPT, STH
|
0 |
0 |
1
|
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
9
|
4
|
93
|
89
|
30
|
225
|
Illumina Laboratory Services, Illumina
|
0 |
0 |
14
|
11
|
9
|
34
|
OMIM
|
18
|
0 |
0 |
0 |
0 |
18
|
Human Genetics Group at Institute of Prion Diseases London, University College London
|
9
|
5
|
0 |
0 |
0 |
14
|
Guerreiro-Bras Laboratory, Van Andel Institute
|
0 |
14
|
0 |
0 |
0 |
14
|
Mendelics
|
3
|
1
|
1
|
1
|
2
|
8
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
4
|
2
|
0 |
0 |
0 |
6
|
Translational Genetics in Neurodegenerative disease, Karolinska Institutet
|
6
|
0 |
0 |
0 |
0 |
6
|
MGZ Medical Genetics Center
|
0 |
1
|
1
|
0 |
0 |
2
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
2
|
0 |
0 |
2
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
1
|
0 |
0 |
2
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
|
0 |
1
|
1
|
0 |
0 |
2
|
Myllykangas group, University of Helsinki
|
0 |
0 |
1
|
1
|
0 |
2
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
2
|
0 |
0 |
0 |
0 |
2
|
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara
|
1
|
1
|
0 |
0 |
0 |
2
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
0 |
1
|
0 |
0 |
2
|
Centogene AG - the Rare Disease Company
|
0 |
0 |
1
|
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
1
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
0 |
1
|
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
1
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
0 |
0 |
0 |
1
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
1
|
1
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
0 |
0 |
1
|
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.