ClinVar Miner

Variants studied for anterior horn disease

Included ClinVar conditions (92):
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
387 103 955 382 314 10 6 2071

Gene and significance breakdown #

Total genes and gene combinations: 68
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
IGHMBP2 24 17 162 46 41 0 0 258
PLEKHG5 4 2 97 37 23 0 1 163
SETX 5 1 89 28 27 0 0 150
SLC12A6 12 32 76 23 8 0 1 149
DCTN1 1 0 80 30 21 0 0 132
BICD2 6 2 54 20 11 0 1 92
ATP7A 6 2 33 23 25 0 0 89
SLC52A3 31 2 38 14 11 0 0 88
SLC52A2 18 4 43 16 7 0 0 86
TRPV4 5 0 19 40 10 0 0 74
UBA1 3 0 23 20 19 0 0 59
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
VRK1 8 6 25 1 4 0 1 40
SMN1 32 5 2 0 0 0 0 36
AR 19 3 6 2 5 0 0 35
DNAJB2 6 3 16 7 3 0 0 35
TBK1 9 0 12 6 8 0 0 35
MATR3 4 1 15 8 6 0 0 33
SIGMAR1 4 3 15 3 5 0 0 30
FUS 10 0 8 1 11 0 0 29
TARDBP 20 1 8 2 2 0 0 29
CHCHD10 5 0 13 6 6 0 1 28
DYNC1H1 8 2 17 0 0 0 0 26
VAPB 2 0 12 8 1 0 0 23
AR, LOC109504725 4 0 2 1 9 1 0 17
EXOSC3 9 3 3 1 2 0 0 16
TSEN2 4 4 7 0 0 0 0 15
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
TSEN54 5 3 2 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
SEPSECS 4 1 1 0 0 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
NOP10, SLC12A6 0 0 0 4 0 0 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
EMC4, SLC12A6 0 0 3 0 0 0 0 3
EXOSC8 2 0 1 0 0 0 1 3
LOC108903148, OPTN 1 0 2 0 0 0 0 3
TSEN15 3 0 0 0 0 0 0 3
TSEN34 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
MIR4497, TRPV4 0 0 1 1 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
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: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 80 19 713 284 256 0 0 1352
Illumina Clinical Services Laboratory,Illumina 2 0 161 86 34 0 0 283
OMIM 239 0 1 0 0 9 0 249
GeneReviews 83 0 4 0 3 1 0 91
Fulgent Genetics 11 5 40 0 0 0 0 56
Counsyl 3 31 10 2 0 0 0 46
Genetic Services Laboratory, University of Chicago 8 6 10 0 0 0 0 24
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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 4 3 9 0 0 0 0 16
Athena Diagnostics Inc 0 0 0 0 15 0 0 15
Baylor Miraca Genetics Laboratories, 7 2 3 0 0 0 0 12
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
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 7 2 0 0 0 0 0 9
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
Service de Pédiatrie - Neurologie et infectiologie - Toulouse,CHU de Toulouse - Hôpital des Enfants 0 3 3 0 0 0 0 6
Undiagnosed Diseases Network,NIH 2 1 2 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 5 5
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
Mendelics 2 0 0 0 0 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 0 0 0 0 2
Duke University Health System Sequencing Clinic,Duke University Health System 2 0 0 0 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 2 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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 0 0 0 0 0 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
HudsonAlpha Institute for Biotechnology 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
Paisan-Ruiz Laboratory,Icahn School of Medicine at Mount Sinai 1 0 0 0 0 0 0 1
Genome.One 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
Biochemistry Laboratory of CDMU,Chengde Medical University 1 0 0 0 0 0 0 1

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