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
168 12 317 125 136 9 1 749

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SETX 5 1 88 28 27 0 0 149
DCTN1 1 0 80 30 21 0 0 132
SQSTM1 5 1 22 10 14 0 0 48
SOD1 35 4 6 0 2 0 0 45
VCP 5 0 13 13 10 0 0 41
TBK1 9 0 12 6 8 0 0 35
MATR3 4 1 15 8 6 0 0 33
FUS 10 0 8 1 11 0 0 29
TARDBP 20 1 8 2 2 0 0 29
SIGMAR1 2 3 15 3 5 0 0 28
CHCHD10 4 0 13 6 6 0 1 27
VAPB 2 0 12 8 1 0 0 23
FIG4 6 1 4 0 3 0 0 14
SPG11 8 0 6 0 0 0 0 14
ATXN2 1 0 0 6 4 1 0 12
ANG, RNASE4 10 0 0 0 0 0 0 10
OPTN 3 0 3 2 2 0 0 10
ALS2 6 0 3 0 0 0 0 9
UBQLN2 6 0 2 0 2 0 0 9
NEFH 0 0 0 2 7 0 0 8
CHMP2B 3 0 2 0 2 0 0 6
NEK1 1 0 1 0 0 4 0 5
TUBA4A 5 0 0 0 0 0 0 5
KIF5A 0 0 0 0 0 4 0 4
PFN1 4 0 0 0 0 0 0 4
ANXA11 3 0 0 0 0 0 0 3
C9orf72, LOC109504728 2 0 0 0 1 0 0 3
LOC108903148, OPTN 1 0 2 0 0 0 0 3
C9orf72 0 0 0 0 2 0 0 2
ERBB4 2 0 0 0 0 0 0 2
HNRNPA1 2 0 0 0 0 0 0 2
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
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 26 3 291 116 115 0 0 551
OMIM 132 0 1 0 0 9 0 142
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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 7 0 0 9
Athena Diagnostics Inc 0 0 0 0 7 0 0 7
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 2 3 0 0 0 0 6
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 Miraca Genetics Laboratories, 2 0 1 0 0 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 3 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 0 0 0 0 2
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,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
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1

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