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 |
333
|
163
|
2118
|
1534
|
440
|
1
|
29
|
4454
|
Gene and significance breakdown #
Total genes and gene combinations: 72
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
DCTN1
|
7
|
3
|
582
|
471
|
49
|
0 |
4
|
1108
|
VCP
|
20
|
13
|
163
|
267
|
30
|
0 |
0 |
483
|
FUS
|
27
|
8
|
184
|
114
|
53
|
0 |
0 |
371
|
MATR3
|
3
|
1
|
187
|
136
|
48
|
0 |
0 |
362
|
VAPB
|
2
|
0 |
186
|
80
|
51
|
0 |
0 |
313
|
OPTN
|
33
|
13
|
138
|
77
|
18
|
0 |
0 |
268
|
MAPT
|
24
|
7
|
99
|
90
|
30
|
0 |
0 |
245
|
PSEN1
|
50
|
20
|
75
|
51
|
13
|
0 |
0 |
207
|
TARDBP
|
17
|
15
|
93
|
62
|
17
|
0 |
16
|
192
|
SOD1
|
59
|
39
|
43
|
33
|
7
|
0 |
0 |
163
|
UBQLN2
|
6
|
2
|
81
|
33
|
15
|
0 |
0 |
130
|
CHMP2B
|
6
|
0 |
64
|
33
|
22
|
0 |
8
|
119
|
FIG4
|
9
|
3
|
37
|
14
|
23
|
0 |
0 |
82
|
LOC126807526, MATR3
|
1
|
0 |
48
|
32
|
3
|
0 |
0 |
78
|
LOC108903148, OPTN
|
6
|
2
|
30
|
10
|
6
|
0 |
0 |
53
|
SOD1, SOD1-DT
|
13
|
11
|
17
|
7
|
4
|
0 |
1
|
48
|
ANG, EGILA, RNASE4
|
10
|
3
|
10
|
7
|
4
|
0 |
0 |
28
|
ERBB4
|
2
|
3
|
14
|
0 |
5
|
0 |
0 |
24
|
GRN
|
15
|
2
|
4
|
0 |
0 |
0 |
0 |
21
|
SQSTM1
|
4
|
3
|
8
|
2
|
3
|
0 |
0 |
18
|
LOC130003370, OPTN
|
0 |
0 |
6
|
1
|
5
|
0 |
0 |
12
|
NEFH
|
0 |
0 |
2
|
2
|
8
|
0 |
0 |
11
|
TUBA4A
|
5
|
0 |
6
|
0 |
0 |
0 |
0 |
11
|
CHMP2B, POU1F1
|
0 |
0 |
1
|
2
|
6
|
0 |
0 |
9
|
LOC130066253, VAPB
|
0 |
0 |
5
|
2
|
2
|
0 |
0 |
9
|
ANG
|
0 |
0 |
3
|
0 |
5
|
0 |
0 |
8
|
PFN1
|
4
|
1
|
1
|
1
|
1
|
0 |
0 |
8
|
MASP2, TARDBP
|
0 |
0 |
1
|
3
|
4
|
0 |
0 |
7
|
ANG, LOC130055269
|
0 |
0 |
1
|
0 |
3
|
0 |
0 |
4
|
CHMP2B, LOC129937086
|
0 |
0 |
2
|
0 |
1
|
0 |
0 |
3
|
HNRNPA1
|
2
|
0 |
0 |
1
|
0 |
0 |
0 |
3
|
LOC130068339, UBQLN2
|
0 |
0 |
3
|
0 |
0 |
0 |
0 |
3
|
MATR3, SNHG4
|
0 |
0 |
2
|
0 |
1
|
0 |
0 |
3
|
SETX
|
0 |
3
|
0 |
0 |
0 |
0 |
0 |
3
|
ANG, LOC130055270, RNASE4
|
0 |
0 |
0 |
1
|
1
|
0 |
0 |
2
|
ANG, RNASE4
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CHMP2B, LOC129937085
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
CHRNB4
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
LOC130068340, UBQLN2
|
1
|
0 |
1
|
0 |
1
|
0 |
0 |
2
|
MARCHF4
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
MEF2C
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
PRPH, TROAP
|
0 |
1
|
0 |
0 |
1
|
0 |
0 |
2
|
TREM2
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
ABCA7
|
0 |
0 |
0 |
0 |
0 |
1
|
0 |
1
|
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ANKRD18B, APTX, AQP3, AQP7, ARID3C, B4GALT1, BAG1, CCL19, CCL21, CCL27, CHMP5, CNTFR, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, FAM219A, GALT, IL11RA, KIF24, MYORG, NDUFB6, NFX1, NOL6, NUDT2, PHF24, PRSS3, RIGI, RPP25L, SIGMAR1, SMU1, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, TAF1L, TMEM215, TOPORS, UBAP1, UBAP2, UBE2R2, VCP
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ARSA
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
ATP5PO, CBR1, CBR3, CFAP298, CHAF1B, CLDN14, CLIC6, CRYZL1, DNAJC28, DONSON, DOP1B, DYRK1A, EPCIP, EVA1C, GART, HLCS, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, KCNJ6, MIS18A, MORC3, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, PIGP, RCAN1, RIPPLY3, RUNX1, SCAF4, SETD4, SIM2, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, TTC3, URB1, VPS26C
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CAMK1D, CCDC3, OPTN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
CCNF
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CHRNA4
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
CRHR1, KANSL1, MAPT, SPPL2C, STH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
CSF1R
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
ERCC4, LOC130058543
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
GLT8D1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
GRN, LOC125177489
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
HNRNPA2B1
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
LOC108903148, LOC108903149, LOC121366042, LOC130003372, LOC130003373, MCM10, OPTN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC108903148, LOC108903149, LOC130003372, OPTN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC108903148, LOC108903149, OPTN
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
LOC124629354, PRPH, TROAP
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC129994755, MATR3, SNHG4
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC129995449, SQSTM1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
LOC130001690, VCP
|
0 |
0 |
0 |
1
|
0 |
0 |
0 |
1
|
LRRK2
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
MAPT, STH
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
SCAF4, SOD1
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
TM2D3
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
TNK1
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
UNC13A
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
VPS13C
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
risk factor |
not provided |
total |
Invitae
|
204
|
76
|
1612
|
1429
|
231
|
0 |
0 |
3552
|
Illumina Laboratory Services, Illumina
|
1
|
0 |
440
|
98
|
235
|
0 |
0 |
770
|
OMIM
|
130
|
0 |
0 |
0 |
0 |
0 |
0 |
130
|
Fulgent Genetics, Fulgent Genetics
|
10
|
2
|
24
|
21
|
8
|
0 |
0 |
65
|
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University
|
11
|
30
|
3
|
0 |
0 |
0 |
0 |
44
|
Mendelics
|
8
|
4
|
6
|
2
|
8
|
0 |
0 |
28
|
Revvity Omics, Revvity
|
2
|
0 |
25
|
0 |
0 |
0 |
0 |
27
|
GeneReviews
|
0 |
0 |
0 |
0 |
0 |
0 |
23
|
23
|
Genome-Nilou Lab
|
0 |
0 |
0 |
0 |
22
|
0 |
0 |
22
|
MGZ Medical Genetics Center
|
2
|
8
|
8
|
0 |
0 |
0 |
0 |
18
|
Human Genetics Group at Institute of Prion Diseases London, University College London
|
9
|
5
|
0 |
0 |
0 |
0 |
0 |
14
|
Guerreiro-Bras Laboratory, Van Andel Institute
|
0 |
14
|
0 |
0 |
0 |
0 |
0 |
14
|
Human Genetics Bochum, Ruhr University Bochum
|
5
|
3
|
6
|
0 |
0 |
0 |
0 |
14
|
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München
|
9
|
3
|
0 |
0 |
0 |
0 |
0 |
12
|
Baylor Genetics
|
0 |
2
|
8
|
0 |
0 |
0 |
0 |
10
|
Genome Diagnostics Laboratory, Amsterdam University Medical Center
|
0 |
0 |
0 |
3
|
7
|
0 |
0 |
10
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
|
0 |
0 |
0 |
2
|
7
|
0 |
0 |
9
|
Centogene AG - the Rare Disease Company
|
1
|
2
|
5
|
0 |
0 |
0 |
0 |
8
|
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology
|
0 |
1
|
6
|
0 |
0 |
1
|
0 |
8
|
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine
|
3
|
1
|
4
|
0 |
0 |
0 |
0 |
8
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
|
4
|
1
|
2
|
0 |
0 |
0 |
0 |
7
|
Molecular Genetics, Royal Melbourne Hospital
|
1
|
2
|
4
|
0 |
0 |
0 |
0 |
7
|
Translational Genetics in Neurodegenerative disease, Karolinska Institutet
|
6
|
0 |
0 |
0 |
0 |
0 |
0 |
6
|
Weber Lab, Hannover Medical School
|
2
|
0 |
4
|
0 |
0 |
0 |
0 |
6
|
Athena Diagnostics Inc
|
0 |
0 |
0 |
0 |
5
|
0 |
0 |
5
|
Genomic Research Center, Shahid Beheshti University of Medical Sciences
|
0 |
0 |
5
|
0 |
0 |
0 |
0 |
5
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
1
|
1
|
3
|
0 |
0 |
0 |
0 |
5
|
Institute of Human Genetics, University of Leipzig Medical Center
|
1
|
1
|
3
|
0 |
0 |
0 |
0 |
5
|
3billion
|
1
|
3
|
1
|
0 |
0 |
0 |
0 |
5
|
Institute of Human Genetics, Cologne University
|
4
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
GenomeConnect - Invitae Patient Insights Network
|
0 |
0 |
0 |
0 |
0 |
0 |
4
|
4
|
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
|
0 |
0 |
4
|
0 |
0 |
0 |
0 |
4
|
Genome Diagnostics Laboratory, University Medical Center Utrecht
|
0 |
0 |
0 |
0 |
3
|
0 |
0 |
3
|
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
|
0 |
1
|
1
|
1
|
0 |
0 |
0 |
3
|
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara
|
2
|
1
|
0 |
0 |
0 |
0 |
0 |
3
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
|
1
|
1
|
0 |
0 |
0 |
0 |
0 |
2
|
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
|
0 |
1
|
1
|
0 |
0 |
0 |
0 |
2
|
Myllykangas group, University of Helsinki
|
0 |
0 |
1
|
1
|
0 |
0 |
0 |
2
|
Genetics and Molecular Pathology, SA Pathology
|
1
|
0 |
1
|
0 |
0 |
0 |
0 |
2
|
GenomeConnect, ClinGen
|
0 |
0 |
0 |
0 |
0 |
0 |
2
|
2
|
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
|
0 |
0 |
2
|
0 |
0 |
0 |
0 |
2
|
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital
|
0 |
2
|
0 |
0 |
0 |
0 |
0 |
2
|
Genetic Services Laboratory, University of Chicago
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
UniProtKB/Swiss-Prot
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Division of Human Genetics, Children's Hospital of Philadelphia
|
0 |
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 |
0 |
1
|
Center of Genomic medicine, Geneva, University Hospital of Geneva
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
SIB Swiss Institute of Bioinformatics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Codex Genetics Limited
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Reproductive Health Research and Development, BGI Genomics
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Neurology Department, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
New York Genome Center
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Molecular Genetics Lab, CHRU Brest
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
|
0 |
1
|
0 |
0 |
0 |
0 |
0 |
1
|
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria
|
0 |
0 |
1
|
0 |
0 |
0 |
0 |
1
|
Inherited Neuropathy Consortium Ii, University Of Miami
|
1
|
0 |
0 |
0 |
0 |
0 |
0 |
1
|
Department of Research, Sir Ganga Ram Hospital
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0 |
1
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0 |
0 |
0 |
0 |
0 |
1
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Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)
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0 |
0 |
1
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0 |
0 |
0 |
0 |
1
|
Department of Neurology-Cell Therapy Center, Hanyang University
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1
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0 |
0 |
0 |
0 |
0 |
0 |
1
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