ClinVar Miner

Variants studied for amyotrophic lateral sclerosis

Included ClinVar conditions (49):
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
187 24 459 61 55 9 1 776

Gene and significance breakdown #

Total genes and gene combinations: 38
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DCTN1 1 0 126 16 5 0 0 148
SETX 6 2 105 13 6 0 0 131
SOD1 37 6 9 0 1 0 0 51
SQSTM1 5 1 39 2 2 0 0 47
TBK1 15 1 17 3 3 0 0 39
FUS 12 1 17 0 6 0 0 35
VCP 7 0 21 7 0 0 0 35
TARDBP 21 2 10 2 2 0 0 31
MATR3 4 1 23 2 1 0 0 30
SIGMAR1 4 3 19 2 1 0 0 29
CHCHD10 4 0 21 1 1 0 1 27
VAPB 2 0 15 3 0 0 0 20
FIG4 8 1 4 0 4 0 0 17
NEK1 1 0 4 1 6 4 0 15
SPG11 8 1 6 0 0 0 0 15
ATXN2 1 0 1 6 4 1 0 13
ALS2 6 2 3 0 0 0 0 11
ANG, RNASE4 10 0 1 0 1 0 0 11
OPTN 4 0 5 1 1 0 0 11
NEFH 0 0 1 2 8 0 0 10
UBQLN2 6 1 3 0 0 0 0 8
CHMP2B 3 0 3 0 0 0 0 5
TUBA4A 5 0 0 0 0 0 0 5
ANXA11 3 1 0 0 0 0 0 4
KIF5A 0 0 0 0 0 4 0 4
PFN1 4 0 0 0 0 0 0 4
C9orf72, LOC109504728 2 0 0 0 1 0 0 3
ERBB4 2 1 0 0 0 0 0 3
LOC108903148, OPTN 1 0 2 0 0 0 0 3
C9orf72 0 0 0 0 2 0 0 2
HNRNPA1 2 0 0 0 0 0 0 2
APCDD1L, ATP5F1E, CTSZ, EDN3, GNAS, LINC01711, MIR296, MIR298, NELFCD, NPEPL1, PRELID3B, STX16, TUBB1, VAPB, ZNF831 0 0 1 0 0 0 0 1
ARHGEF39, ARID3C, C9orf131, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM166B, FAM205A, FAM214B, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 0 0 1 0 0 0 0 1
C22orf15, CHCHD10 0 0 1 0 0 0 0 1
CACNA1A 0 0 1 0 0 0 0 1
CAMK1D, CCDC3, OPTN 1 0 0 0 0 0 0 1
LOC108903148, LOC108903149, MCM10, OPTN 1 0 0 0 0 0 0 1
LOC108903148, LOC108903149, OPTN 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 37 4 423 50 17 0 0 531
OMIM 132 0 1 0 0 9 0 142
Mendelics 4 5 7 1 9 0 0 26
Fulgent Genetics,Fulgent Genetics 6 0 20 0 0 0 0 26
GeneReviews 20 0 3 0 2 0 0 25
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 9 10 0 0 19
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 1 7 0 0 11
Institute of Human Genetics,Klinikum rechts der Isar 8 1 0 0 0 0 0 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 7 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 6 0 0 0 0 8
Athena Diagnostics Inc 0 0 0 0 7 0 0 7
Weber Lab,Hannover Medical School 2 1 3 0 0 0 0 6
Institute of Human Genetics,Cologne University 4 0 0 0 0 0 0 4
Baylor Genetics 2 0 1 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 3 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 2 0 0 0 0 3
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 1 0 0 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 0 1 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 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 1 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Columbia University Medical Center,Columbia University 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 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

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