ClinVar Miner

Variants studied for frontotemporal dementia with motor neuron disease

Included ClinVar conditions (21):
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 not provided total
159 66 1077 845 197 19 2284

Gene and significance breakdown #

Total genes and gene combinations: 28
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SQSTM1 31 5 302 211 32 0 573
VCP 20 15 163 267 30 0 483
FUS 27 8 183 114 53 0 371
TBK1 55 16 164 95 29 1 347
TARDBP 18 15 90 60 17 16 188
CHCHD10 3 2 104 69 10 2 186
C9orf72 0 0 44 4 23 0 71
LOC129995449, SQSTM1 0 2 12 24 1 0 39
C9orf72, LOC109504728, LOC129929032 2 0 0 0 1 0 3
C22orf15, CHCHD10 0 0 2 0 0 0 2
ERBB4 0 0 2 0 0 0 2
GRN 1 0 1 0 0 0 2
MASP2, TARDBP 0 0 1 0 1 0 2
ADAMTS2, CANX, CBY3, GRM6, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1, ZNF354C, ZNF879 0 0 1 0 0 0 1
ADAMTS2, CANX, CBY3, HNRNPH1, LTC4S, MAML1, MGAT4B, RUFY1, SPATA31J1, SQSTM1 0 0 1 0 0 0 1
ANG, EGILA, RNASE4 0 0 1 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 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 1
ARID3C, CCL19, CCL21, CCL27, CNTFR, DCTN3, DNAI1, DNAJB5, ENHO, GALT, IL11RA, PHF24, RPP25L, SIGMAR1, SPATA31F1, SPATA31G1, VCP 0 0 1 0 0 0 1
KIF5A 0 1 0 0 0 0 1
LOC112997583, SQSTM1 0 1 0 0 0 0 1
LOC124629354, PRPH, TROAP 0 0 1 0 0 0 1
LOC130001690, VCP 0 0 0 1 0 0 1
LTC4S, MGAT4B, SQSTM1 0 0 1 0 0 0 1
OPTN 0 1 0 0 0 0 1
SOD1 1 0 0 0 0 0 1
SPG7 1 0 0 0 0 0 1
TUBA4A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 115 29 851 808 133 0 1936
Illumina Laboratory Services, Illumina 1 0 198 38 81 0 318
OMIM 42 0 0 0 0 0 42
GeneReviews 1 0 0 0 1 18 20
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 4 15 0 0 0 0 19
Genome-Nilou Lab 0 0 0 0 17 0 17
Human Genetics Bochum, Ruhr University Bochum 5 3 6 0 0 0 14
Fulgent Genetics, Fulgent Genetics 1 0 3 7 1 0 12
Baylor Genetics 0 3 6 0 0 0 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 0 0 0 0 0 9
MGZ Medical Genetics Center 2 1 5 0 0 0 8
Molecular Genetics, Royal Melbourne Hospital 0 1 6 0 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 2 2 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 0 4 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 1 4 0 0 0 5
Revvity Omics, Revvity 1 0 3 0 0 0 4
Mendelics 0 1 1 0 2 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 3 0 0 0 4
3billion 0 2 1 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 2
Institute of Human Genetics, Cologne University 2 0 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 2 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 1 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 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 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
Taipei Veterans General Hospital, Neurological Institute 1 0 0 0 0 0 1
Codex Genetics Limited 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 1
Neurology Department，The First Affiliated Hospital of Zhengzhou University, Zhengzhou University 1 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 0 0 0 0 1
Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Department of Research, Sir Ganga Ram Hospital 0 1 0 0 0 0 1
Department of Neurology-Cell Therapy Center, Hanyang University 1 0 0 0 0 0 1

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