ClinVar Miner

Variants studied for anterior horn disease

Included ClinVar conditions (96):
Minimum submission review status: Collection method:
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Gene type:
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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
445 130 1325 218 117 10 7 2181

Gene and significance breakdown #

Total genes and gene combinations: 73
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
IGHMBP2 30 22 206 24 14 0 0 285
PLEKHG5 7 2 135 10 4 0 2 158
SLC12A6 13 32 77 24 10 0 1 152
DCTN1 1 0 126 16 5 0 0 148
SETX 6 2 106 13 6 0 0 132
BICD2 9 5 82 10 3 0 1 107
SLC52A3 32 3 55 6 1 0 0 88
SLC52A2 19 3 58 5 0 0 0 83
ATP7A 12 2 56 10 1 0 0 81
TRPV4 5 0 20 40 10 0 0 74
UBA1 3 0 40 18 7 0 0 68
VRK1 14 6 41 1 2 0 1 59
SOD1 37 6 9 0 1 0 0 51
AR 29 5 12 0 1 0 0 47
SQSTM1 5 1 39 2 2 0 0 47
SMN1 34 5 6 0 0 0 0 41
TBK1 15 1 17 3 3 0 0 39
DNAJB2 6 4 25 2 1 0 0 38
FUS 12 1 17 0 6 0 0 35
VCP 7 0 21 7 0 0 0 35
SIGMAR1 6 3 19 2 2 0 0 32
TARDBP 21 2 10 2 2 0 0 31
MATR3 4 1 23 2 1 0 0 30
CHCHD10 5 0 21 1 4 0 1 29
DYNC1H1 8 4 17 0 0 0 0 28
VAPB 2 0 15 3 0 0 0 20
FIG4 8 1 4 0 4 0 0 17
EXOSC3 9 3 5 0 1 0 0 16
NEK1 1 0 4 1 6 4 0 15
SPG11 8 1 6 0 0 0 0 15
TSEN2 4 4 7 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
AR, LOC109504725 5 0 2 1 2 1 0 11
OPTN 4 0 5 1 1 0 0 11
NEFH 0 0 1 2 8 0 0 10
TSEN54 5 4 2 0 0 0 0 10
SEPSECS 4 1 3 0 0 0 0 8
UBQLN2 6 1 3 0 0 0 0 8
EXOSC8 2 0 3 0 1 0 1 6
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
NOP10, SLC12A6 0 0 0 4 0 0 0 4
PFN1 4 0 0 0 0 0 0 4
TSEN34 1 1 2 0 0 0 0 4
C9orf72, LOC109504728 2 0 0 0 1 0 0 3
EMC4, SLC12A6 0 0 3 0 0 0 0 3
ERBB4 2 1 0 0 0 0 0 3
LOC108903148, OPTN 1 0 2 0 0 0 0 3
TSEN15 3 0 0 0 0 0 0 3
C9orf72 0 0 0 0 2 0 0 2
HNRNPA1 2 0 0 0 0 0 0 2
MIR4497, TRPV4 0 0 1 1 0 0 0 2
TLL2 0 0 2 0 0 0 0 2
ADCK5, BOP1, CPSF1, CYC1, CYHR1, DGAT1, EXOSC4, FBXL6, FOXH1, GPAA1, GRINA, HGH1, HSF1, KIFC2, MAF1, MIR1234, MIR661, MROH1, OPLAH, PARP10, PLEC, SCRT1, SCX, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28 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
ARHGEF10 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
CHMP1A 1 0 0 0 0 0 0 1
DES, DES-LCR, DNAJB2, DNPEP, MIR153-1, PTPRN, RESP18 0 0 1 0 0 0 0 1
FBLN5 0 0 1 0 0 0 0 1
KIF1B 0 0 1 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
SMN1, SMN2 0 0 0 1 0 0 0 1
SMN2 1 0 0 0 0 0 0 1
SPG7 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 127 26 1061 115 32 0 0 1361
Illumina Clinical Services Laboratory,Illumina 2 0 161 86 34 0 0 283
OMIM 242 0 1 0 0 9 0 252
GeneReviews 83 0 4 0 3 1 0 91
Fulgent Genetics,Fulgent Genetics 11 5 40 0 0 0 0 56
Counsyl 3 31 10 2 0 0 0 46
Mendelics 8 8 7 3 16 0 0 42
Genetic Services Laboratory, University of Chicago 8 6 10 0 0 0 0 24
Genomic Research Center, Shahid Beheshti University of Medical Sciences 4 2 15 0 0 0 0 21
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 1 0 0 17 0 0 19
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 9 10 0 0 19
Institute of Human Genetics,Cologne University 9 3 4 0 0 0 0 16
Athena Diagnostics Inc 0 0 0 0 15 0 0 15
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 3 2 9 0 0 14
Baylor Genetics 8 2 3 0 0 0 0 13
Institute of Human Genetics,Klinikum rechts der Isar 10 3 0 0 0 0 0 13
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 7 2 2 0 0 0 0 11
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 6 2 2 0 0 0 0 10
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 0 10
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 7 0 0 9
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 8 0 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 1 0 1 4 0 0 6
Integrated Genetics/Laboratory Corporation of America 3 3 0 0 0 0 0 6
Weber Lab,Hannover Medical School 2 1 3 0 0 0 0 6
Undiagnosed Diseases Network,NIH 2 1 3 0 0 0 0 6
GenomeConnect, ClinGen 0 0 0 0 0 0 6 6
Service de Pédiatrie - Neurologie et infectiologie - Toulouse,CHU de Toulouse - Hôpital des Enfants 0 3 3 0 0 0 0 6
Broad Institute Rare Disease Group,Broad Institute 2 0 4 0 0 0 0 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 2 1 1 0 0 0 0 4
Department of Medical Genetics,Oslo University Hospital 0 3 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 1 0 0 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
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 1 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 0 0 2
Duke University Health System Sequencing Clinic,Duke University Health System 2 0 0 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 1 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 0 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 2 0 0 0 0 0 2
Clinical Genetics,University of Leipzig 1 1 0 0 0 0 0 2
Center for Biomedical Information,Shanghai Children’s Hospital 0 0 2 0 0 0 0 2
Institute of Human Genetics,University of Goettingen 0 1 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 1 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 1 0 0 0 0 0 1
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Molecular Neurogenomics lab,VIB Department of Molecular Genetics; University of Antwerp 1 0 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
Paisan-Ruiz Laboratory,Icahn School of Medicine at Mount Sinai 1 0 0 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
Children's Hospital of Soochow University,Soochow University 0 1 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 1 0 0 0 0 0 1
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 1 0 0 0 0 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1
Genetics,INEBIR 1 0 0 0 0 0 0 1

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