ClinVar Miner

Variants studied for amyotrophic lateral sclerosis

Included ClinVar conditions (70):
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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 association risk factor not provided total
459 225 3536 2379 898 1 3 52 7205

Gene and significance breakdown #

Total genes and gene combinations: 126
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
SETX 28 16 471 463 355 0 0 2 1204
DCTN1 7 4 585 471 51 0 0 4 1110
SQSTM1 31 5 302 211 32 0 0 0 573
VCP 20 15 163 267 30 0 0 0 483
FUS 28 8 183 114 53 0 0 0 372
MATR3 3 1 189 136 48 0 0 0 364
TBK1 55 16 164 95 29 0 0 1 347
VAPB 2 0 188 80 51 0 0 0 315
OPTN 35 14 141 77 18 0 0 0 274
SPG11 23 8 165 32 10 0 0 13 242
TARDBP 18 15 90 60 17 0 0 16 188
CHCHD10 3 2 104 69 10 0 0 2 186
SOD1 59 42 43 33 7 0 0 0 165
ALS2 15 17 82 12 21 0 0 0 144
UBQLN2 6 4 82 34 15 0 0 0 132
SIGMAR1 6 7 54 56 7 0 0 0 126
CHMP2B 6 0 59 30 22 0 0 8 113
FIG4 9 4 50 15 23 0 0 0 92
CYLD 4 1 79 0 0 0 0 0 84
LOC126807526, MATR3 1 0 48 32 3 0 0 0 78
C9orf72 0 0 44 4 23 0 0 0 71
LOC108903148, OPTN 6 1 30 10 6 0 0 0 52
SOD1, SOD1-DT 13 11 17 7 4 0 0 1 48
LOC129995449, SQSTM1 0 2 12 24 1 0 0 0 39
SMN1 14 9 9 5 0 0 0 1 36
LOC130001681, SIGMAR1 5 0 15 8 3 0 0 0 31
ERBB4 2 2 20 0 6 0 0 0 29
ANG, EGILA, RNASE4 10 2 11 7 4 0 0 0 28
LOC126860782, SETX 0 0 5 7 5 0 0 0 15
NEFH 0 0 5 2 8 0 0 0 14
TUBA4A 5 1 8 0 0 0 0 0 13
ANXA11 4 2 7 0 1 0 0 0 12
LOC130003370, OPTN 0 0 6 1 5 0 0 0 12
ATXN2 0 0 4 3 2 0 1 1 11
PFN1 4 1 3 1 1 0 0 0 10
CCNF 3 0 6 0 0 0 0 0 9
LOC130066253, VAPB 0 0 5 2 2 0 0 0 9
ANG 0 0 3 0 5 0 0 0 8
SPTLC1 6 1 1 0 0 0 0 0 7
C9orf72, LOC109504728, LOC129929032 3 0 1 0 1 0 0 0 5
CHRNA3 0 4 1 0 0 0 0 0 5
DAO 0 1 3 1 0 0 0 0 5
ANG, LOC130055269 0 0 1 0 3 0 0 0 4
ATXN2, LOC130008791 1 0 0 2 1 0 1 0 4
KIF5A 0 1 3 0 0 0 0 0 4
LOC126860783, SETX 0 0 2 1 1 0 0 0 4
UNC13A 0 1 2 0 0 1 0 0 4
ALS2, LOC129935419 0 0 2 0 1 0 0 0 3
ATXN2, LOC130008792 0 0 1 0 2 0 0 0 3
CHMP2B, LOC129937086 0 0 2 0 1 0 0 0 3
CHRNA4 0 0 1 2 0 0 0 0 3
CHRNB4 0 0 1 0 2 0 0 0 3
HNRNPA1 2 0 0 1 0 0 0 0 3
IGHMBP2 1 1 1 0 0 0 0 0 3
LOC130068339, UBQLN2 0 0 3 0 0 0 0 0 3
MATR3, SNHG4 0 0 2 0 1 0 0 0 3
PRPH, TROAP 0 1 1 0 1 0 0 0 3
TIA1 1 0 2 0 0 0 0 0 3
ANG, LOC130055270, RNASE4 0 0 0 1 1 0 0 0 2
ANG, RNASE4 0 0 2 0 0 0 0 0 2
C22orf15, CHCHD10 0 0 2 0 0 0 0 0 2
CAPN3 2 0 0 0 0 0 0 0 2
CCNF, LOC105371050 1 0 1 0 0 0 0 0 2
CHMP2B, POU1F1 0 0 1 0 1 0 0 0 2
DYNC1H1 1 0 1 0 0 0 0 0 2
EWSR1 0 0 2 0 0 0 0 0 2
GLE1, LOC101929270 0 0 2 0 0 0 0 0 2
GRN 1 0 1 0 0 0 0 0 2
LOC124629354, PRPH, TROAP 0 1 1 0 0 0 0 0 2
LOC130056971, SPG11 0 0 2 0 0 0 0 0 2
LOC130056973, SPG11 0 0 2 0 0 0 0 0 2
LOC130067862, SCO2, TYMP 0 0 0 0 2 0 0 0 2
LOC130068340, UBQLN2 1 0 1 0 1 0 0 0 2
MASP2, TARDBP 0 0 1 0 1 0 0 0 2
NEK1 0 0 2 0 0 0 0 0 2
PLEKHG5 1 1 0 0 0 0 0 0 2
PNPLA6 0 0 2 0 0 0 0 0 2
SCFD1 0 0 2 0 0 0 0 0 2
SYNE1 2 0 0 0 0 0 0 0 2
TLL2 0 0 2 0 0 0 0 0 2
VRK1 1 1 0 0 0 0 0 0 2
​intergenic 1 0 0 0 0 0 0 0 1
ABCA7 0 0 1 0 0 0 0 0 1
ADAMTS2, CANX, CBY3, GRM6, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1, ZNF354C, ZNF879 0 0 1 0 0 0 0 0 1
ADAMTS2, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1 0 0 1 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARHGEF39, ARID3C, ATOSB, B4GALT1, BAG1, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CHMP5, CIMIP2B, CLTA, CNTFR, CREB3, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, EXOSC3, FAM219A, FAM221B, FANCG, FBXO10, FRMPD1, GALT, GBA2, GLIPR2, GNE, GRHPR, HINT2, HRCT1, IL11RA, KIF24, MELK, MSMP, MYORG, NDUFB6, NFX1, NOL6, NPR2, NUDT2, OR13J1, OR2S2, PAX5, PHF24, PIGO, POLR1E, PRSS3, RECK, RGP1, RIGI, RMRP, RNF38, RPP25L, RUSC2, SIGMAR1, SIT1, SMU1, SPAG8, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, STOML2, TAF1L, TESK1, TLN1, TMEM215, TMEM8B, TOMM5, TOPORS, TPM2, TRMT10B, UBAP1, UBAP2, UBE2R2, UNC13B, VCP, ZBTB5, ZCCHC7 0 0 1 0 0 0 0 0 1
ANKRD18B, APTX, AQP3, AQP7, ARID3C, B4GALT1, BAG1, CCL19, CCL21, CCL27, CHMP5, CNTFR, DCAF12, DCTN3, DNAI1, DNAJA1, DNAJB5, ENHO, FAM219A, GALT, IL11RA, KIF24, MYORG, NDUFB6, NFX1, NOL6, NUDT2, PHF24, PRSS3, RIGI, RPP25L, SIGMAR1, SMU1, SPATA31F1, SPATA31G1, SPINK4, SPMIP6, TAF1L, TMEM215, TOPORS, UBAP1, UBAP2, UBE2R2, VCP 0 0 1 0 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 0 1
ARHGEF10 0 0 1 0 0 0 0 0 1
ARHGEF39, ARID3C, ATOSB, CA9, CCDC107, CCIN, CCL19, CCL21, CCL27, CD72, CIMIP2B, CLTA, CNTFR, CREB3, DCTN3, DNAI1, DNAJB5, ENHO, FAM221B, FANCG, GALT, GBA2, GLIPR2, GNE, HINT2, HRCT1, IL11RA, MSMP, NPR2, OR13J1, OR2S2, PHF24, PIGO, RECK, RGP1, RMRP, RPP25L, RUSC2, SIGMAR1, SIT1, SPAG8, SPATA31F1, SPATA31G1, STOML2, TESK1, TLN1, TMEM8B, TPM2, UNC13B, VCP 0 0 1 0 0 0 0 0 1
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP 0 0 1 0 0 0 0 0 1
ATP5PO, CBR1, CBR3, CFAP298, CHAF1B, CLDN14, CLIC6, CRYZL1, DNAJC28, DONSON, DOP1B, DYRK1A, EPCIP, EVA1C, GART, HLCS, HUNK, IFNAR1, IFNAR2, IFNGR2, IL10RB, ITSN1, KCNE1, KCNE2, KCNJ6, MIS18A, MORC3, MRAP, MRPS6, OLIG1, OLIG2, PAXBP1, PIGP, RCAN1, RIPPLY3, RUNX1, SCAF4, SETD4, SIM2, SLC5A3, SMIM11, SOD1, SON, SYNJ1, TCP10L, TIAM1, TMEM50B, TTC3, URB1, VPS26C 0 0 1 0 0 0 0 0 1
ATXN2, LOC130008791, LOC130008792 1 0 0 0 0 0 0 1 1
BICD2 0 0 0 0 0 0 0 1 1
CACNA1A 0 0 1 0 0 0 0 0 1
CAMK1D, CCDC3, OPTN 1 0 0 0 0 0 0 0 1
CAPN14 0 0 1 0 0 0 0 0 1
CFAP410 0 0 1 0 0 0 0 0 1
CHMP2B, LOC129937085 0 0 1 0 0 0 0 0 1
DDX20 0 0 1 0 0 0 0 0 1
DNAJC7 0 0 1 0 0 0 0 0 1
ELP3 0 0 1 0 0 0 0 0 1
ERLIN1 1 0 0 0 0 0 0 0 1
GLT8D1 0 0 1 0 0 0 0 0 1
KANK1 0 0 1 0 0 0 0 0 1
LOC108903148, LOC108903149, LOC121366042, LOC130003372, LOC130003373, MCM10, OPTN 1 0 0 0 0 0 0 0 1
LOC108903148, LOC108903149, LOC130003372, OPTN 1 0 0 0 0 0 0 0 1
LOC108903148, LOC108903149, OPTN 1 0 0 0 0 0 0 0 1
LOC112997583, SQSTM1 0 1 0 0 0 0 0 0 1
LOC129994755, MATR3, SNHG4 0 0 1 0 0 0 0 0 1
LOC130000954, LRP12 1 0 0 0 0 0 0 0 1
LOC130001690, VCP 0 0 0 1 0 0 0 0 1
LOC130056709, NIPA1 0 0 0 0 0 0 1 0 1
LTC4S, MGAT4B, SQSTM1 0 0 1 0 0 0 0 0 1
MOBP 0 0 1 0 0 0 0 0 1
PON1 0 0 1 0 0 0 0 0 1
PON3 0 0 0 1 0 0 0 0 1
SARM1 0 0 1 0 0 0 0 0 1
SCAF4, SOD1 1 0 0 0 0 0 0 0 1
SMN1, SMN2 0 0 0 1 0 0 0 0 1
SMN2 0 1 0 0 0 0 0 0 1
SPG7 1 0 0 0 0 0 0 0 1
SS18L1 0 0 1 0 0 0 0 0 1
TNIP1 0 0 1 0 0 0 0 0 1
TRPM7 0 0 1 0 0 0 0 0 1
TRPV4 0 0 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 103
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 260 81 2388 2177 588 0 0 0 5494
Illumina Laboratory Services, Illumina 2 0 649 133 323 0 0 0 1107
Genome-Nilou Lab 4 2 250 96 89 0 0 0 441
OMIM 154 0 1 0 0 0 1 0 156
Baylor Genetics 10 6 102 0 0 0 0 0 118
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 24 46 26 5 5 0 0 0 106
Fulgent Genetics, Fulgent Genetics 16 4 44 31 9 0 0 0 104
UM ALS/MND Lab, University Of Malta 0 8 39 0 0 0 2 0 49
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust 4 3 26 0 0 0 0 0 33
Revvity Omics, Revvity 2 0 29 0 0 0 0 0 31
GeneReviews 3 0 0 0 1 0 0 27 31
Mendelics 6 5 7 1 9 0 0 0 28
MGZ Medical Genetics Center 3 7 14 0 0 0 0 0 24
Neuberg Centre For Genomic Medicine, NCGM 4 3 17 0 0 0 0 0 24
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 0 21 21
Molecular Genetics, Royal Melbourne Hospital 2 5 11 0 3 0 0 0 21
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 8 10 0 0 0 18
Human Genetics Bochum, Ruhr University Bochum 7 4 7 0 0 0 0 0 18
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 3 5 1 0 0 0 0 14
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 2 2 10 0 0 0 0 0 14
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 13 0 0 0 0 0 14
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 10 0 0 0 0 0 0 12
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 11 1 0 0 0 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 3 2 7 0 0 0 0 0 12
Centogene AG - the Rare Disease Company 1 4 5 0 0 0 0 0 10
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 3 2 0 0 0 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 7 0 0 0 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 2 3 0 1 0 0 0 8
3billion 1 6 1 0 0 0 0 0 8
Athena Diagnostics 0 0 0 0 7 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 6 1 0 0 0 0 7
Weber Lab, Hannover Medical School 2 0 4 0 0 0 0 0 6
Institute of Human Genetics, Cologne University 4 0 1 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 5 5
Solve-RD Consortium 0 5 0 0 0 0 0 0 5
Genetics and Molecular Pathology, SA Pathology 1 2 1 0 0 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 2 0 2 0 0 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 3 0 0 0 0 0 0 3
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 2 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 2 0 0 0 0 0 2
Natera, Inc. 0 0 0 0 2 0 0 0 2
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 2 0 0 0 0 0 0 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 2 0 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 0 0 2
Center for Biomedical Information, Shanghai Children’s Hospital 0 0 2 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 1 0 0 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 0 0 2
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 0 0 2
Medical Genetics, Christian Medical College 2 0 0 0 0 0 0 0 2
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 0 0 2
Suma Genomics, Suma Genomics 0 1 1 0 0 0 0 0 2
DASA 0 2 0 0 0 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 1 1 0 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 2 0 0 0 0 0 0 2
Department of Research, Sir Ganga Ram Hospital 0 1 0 0 0 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 1 0 0 0 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 1 0 0 0 0 0 0 0 1
Molecular Neurogenomics lab, VIB Department of Molecular Genetics; University of Antwerp 1 0 0 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 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 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 0 0 1
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP 0 1 0 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 0 0 1
Taipei Veterans General Hospital, Neurological Institute 1 0 0 0 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 0 0 1
Coyote Medical Laboratory (Beijing), Coyote 0 0 1 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 0 0 0 0 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 0 1 0 0 0 1
Section for Clinical Neurogenetics, University of Tübingen 0 1 0 0 0 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 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 0 1
Lifecell International Pvt. Ltd 1 0 0 0 0 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine 1 0 0 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 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 0 1
Bonnemann Lab, National Institutes of Health 0 1 0 0 0 0 0 0 1
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 0 0 0 0 0 0 0 1
University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, National and Kapodistrian University of Athens 0 0 1 0 0 0 0 0 1
Molecular Diagnostics and Clinical Genetics Unit, Hospital Universitari Son Espases/IbSalut 0 1 0 0 0 0 0 0 1
Motor Neurone Disease Genetics and Therapeutics, Perron Institute for Neurological and Translational Science 0 0 1 0 0 0 0 0 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 0 0 1
Department of Neurology-Cell Therapy Center, Hanyang University 1 0 0 0 0 0 0 0 1
Department of Medical Genetics, Capital Institute of Pediatrics 1 0 0 0 0 0 0 0 1
Igenomix - Part of Vitrolife Group, Igenomix 0 1 0 0 0 0 0 0 1

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