ClinVar Miner

Variants studied for amyotrophic lateral sclerosis

Included ClinVar conditions (55):
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
260 87 1637 542 466 11 2 2902

Gene and significance breakdown #

Total genes and gene combinations: 74
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
SETX 10 4 309 112 79 0 0 488
DCTN1 1 1 245 98 34 0 0 377
FUS 19 4 120 30 43 0 0 211
VAPB 2 0 123 33 47 0 0 201
SQSTM1 14 2 102 53 20 0 0 186
MATR3 4 1 87 37 41 0 0 162
VCP 11 4 85 45 20 0 0 160
ALS2 10 7 83 9 17 0 0 124
SOD1 44 24 30 5 8 0 1 106
TARDBP 22 7 60 11 11 0 0 99
OPTN 10 3 56 14 15 0 0 95
TBK1 19 3 31 16 13 0 0 81
FIG4 8 2 33 10 20 0 0 69
SIGMAR1 4 7 39 13 5 0 0 68
CHCHD10 4 1 40 19 6 0 1 67
C9orf72 0 0 41 4 21 0 0 66
CHMP2B 8 0 27 7 23 0 0 61
SPG11 14 2 21 0 0 0 0 37
UBQLN2 6 2 26 3 3 0 0 36
ANG, RNASE4 10 0 12 8 5 0 0 31
ATXN2 6 0 3 6 5 2 0 22
LOC108903148, OPTN 2 0 7 2 4 0 0 14
ANG 0 0 4 0 8 0 0 12
ERBB4 2 3 6 0 2 0 0 12
NEFH 0 0 3 2 8 0 0 12
NEK1 1 1 5 1 0 4 0 11
KIF5A 0 1 2 0 0 4 0 7
MATR3, SNHG4 0 0 3 0 3 0 0 6
CHRNA3 0 4 1 0 0 0 0 5
PFN1 4 0 1 0 0 0 0 5
TUBA4A 5 0 0 0 0 0 0 5
ANXA11 3 1 0 0 0 0 0 4
CCNF 4 0 0 0 0 0 0 4
DAO 0 1 2 1 0 0 0 4
C9orf72, LOC109504728 2 0 0 0 1 0 0 3
CHRNA4 0 0 1 2 0 0 0 3
CHRNB4 0 0 1 0 2 0 0 3
C22orf15, CHCHD10 0 0 2 0 0 0 0 2
EWSR1 0 0 2 0 0 0 0 2
HNRNPA1 2 0 0 0 0 0 0 2
MASP2, TARDBP 0 0 1 0 1 0 0 2
PLEKHG5 1 1 0 0 0 0 0 2
PNPLA6 0 0 2 0 0 0 0 2
SCFD1 0 0 2 0 0 0 0 2
SYNE1 2 0 0 0 0 0 0 2
ADAMTS2, C5orf60, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SQSTM1 0 0 1 0 0 0 0 1
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
ARID3C, C9orf131, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, FAM205A, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, 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
CAPN14 0 0 1 0 0 0 0 1
CFAP410 0 0 1 0 0 0 0 1
CHMP2B, POU1F1 0 0 0 0 1 0 0 1
CYLD 1 0 0 0 0 0 0 1
DDX20 0 0 1 0 0 0 0 1
DNAJC7 0 0 1 0 0 0 0 1
ELP3 0 0 1 0 0 0 0 1
ERLIN1 1 0 0 0 0 0 0 1
GLE1 0 0 1 0 0 0 0 1
LOC108903148, LOC108903149, LOC121366042, MCM10, OPTN 1 0 0 0 0 0 0 1
LOC108903148, LOC108903149, OPTN 1 0 0 0 0 0 0 1
MOBP 0 0 1 0 0 0 0 1
NIPA1 0 0 0 0 0 1 0 1
PON1 0 0 1 0 0 0 0 1
PON3 0 0 0 1 0 0 0 1
PRPH, TROAP 0 0 1 0 0 0 0 1
SARM1 0 0 1 0 0 0 0 1
SS18L1 0 0 1 0 0 0 0 1
TIA1 1 0 0 0 0 0 0 1
TNIP1 0 0 1 0 0 0 0 1
TRPM7 0 0 1 0 0 0 0 1
UNC13A 0 0 1 0 0 0 0 1
VRK1 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 65 13 903 409 166 0 0 1556
Illumina Clinical Services Laboratory,Illumina 1 0 647 134 323 0 0 1105
OMIM 146 0 1 0 0 9 0 156
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 22 44 26 5 5 0 0 102
ALS/MND Lab,University of Malta 0 4 35 0 0 2 0 41
Baylor Genetics 13 2 18 0 0 0 0 33
GeneReviews 26 0 4 0 2 0 0 32
Mendelics 4 5 7 1 9 0 0 26
Fulgent Genetics,Fulgent Genetics 6 0 20 0 0 0 0 26
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 9 10 0 0 19
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
Athena Diagnostics Inc 0 0 0 0 7 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 6 1 0 0 0 7
Weber Lab,Hannover Medical School 2 1 3 0 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 3 0 1 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 1 4 0 0 0 0 6
Institute of Human Genetics,Cologne University 4 0 1 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 2 1 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
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 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
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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 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
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing),Coyote 0 0 1 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
Section for Clinical Neurogenetics,University of Tübingen 0 1 0 0 0 0 0 1
Neurology Department,The First Affiliated Hospital of Zhengzhou University,Zhengzhou University 1 0 0 0 0 0 0 1
Nilou-Genome Lab 0 0 0 0 1 0 0 1
Paris Brain Institute,Inserm - ICM 1 0 0 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 1 0 0 0 0 0 0 1

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