ClinVar Miner

Variants studied for behavioral variant of frontotemporal dementia

Included ClinVar conditions (46):
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
333 164 2124 1534 440 1 29 4461

Gene and significance breakdown #

Total genes and gene combinations: 72
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DCTN1 7 3 582 471 49 0 4 1108
VCP 20 13 163 267 30 0 0 483
FUS 27 8 184 114 53 0 0 371
MATR3 3 1 187 136 48 0 0 362
VAPB 2 0 186 80 51 0 0 313
OPTN 33 13 139 77 18 0 0 269
MAPT 24 7 100 90 30 0 0 246
PSEN1 50 20 75 51 13 0 0 207
TARDBP 17 15 94 62 17 0 16 193
SOD1 59 40 43 33 7 0 0 164
UBQLN2 6 2 81 33 15 0 0 130
CHMP2B 6 0 64 33 22 0 8 119
FIG4 9 3 37 14 23 0 0 82
LOC126807526, MATR3 1 0 48 32 3 0 0 78
LOC108903148, OPTN 6 2 30 10 6 0 0 53
SOD1, SOD1-DT 13 11 17 7 4 0 1 48
ANG, EGILA, RNASE4 10 3 10 7 4 0 0 28
ERBB4 2 3 14 0 5 0 0 24
GRN 15 2 4 0 0 0 0 21
SQSTM1 4 3 11 2 3 0 0 21
LOC130003370, OPTN 0 0 6 1 5 0 0 12
NEFH 0 0 2 2 8 0 0 11
TUBA4A 5 0 6 0 0 0 0 11
CHMP2B, POU1F1 0 0 1 2 6 0 0 9
LOC130066253, VAPB 0 0 5 2 2 0 0 9
ANG 0 0 3 0 5 0 0 8
PFN1 4 1 1 1 1 0 0 8
MASP2, TARDBP 0 0 1 3 4 0 0 7
ANG, LOC130055269 0 0 1 0 3 0 0 4
CHMP2B, LOC129937086 0 0 2 0 1 0 0 3
HNRNPA1 2 0 0 1 0 0 0 3
LOC130068339, UBQLN2 0 0 3 0 0 0 0 3
MATR3, SNHG4 0 0 2 0 1 0 0 3
SETX 0 3 0 0 0 0 0 3
ANG, LOC130055270, RNASE4 0 0 0 1 1 0 0 2
ANG, RNASE4 0 0 2 0 0 0 0 2
CHMP2B, LOC129937085 0 0 2 0 0 0 0 2
CHRNB4 0 2 0 0 0 0 0 2
LOC130068340, UBQLN2 1 0 1 0 1 0 0 2
MARCHF4 0 0 1 1 0 0 0 2
MEF2C 0 1 1 0 0 0 0 2
PRPH, TROAP 0 1 0 0 1 0 0 2
TREM2 1 1 0 0 0 0 0 2
ABCA7 0 0 0 0 0 1 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 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 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 1
ARSA 0 0 1 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 1
CAMK1D, CCDC3, OPTN 1 0 0 0 0 0 0 1
CCNF 0 1 0 0 0 0 0 1
CHRNA4 0 1 0 0 0 0 0 1
CRHR1, KANSL1, MAPT, SPPL2C, STH 0 0 1 0 0 0 0 1
CSF1R 0 1 0 0 0 0 0 1
ERCC4, LOC130058543 0 0 1 0 0 0 0 1
GLT8D1 0 1 0 0 0 0 0 1
GRN, LOC125177489 1 0 0 0 0 0 0 1
HNRNPA2B1 0 1 0 0 0 0 0 1
LOC108903148, LOC108903149, LOC121366042, LOC130003372, LOC130003373, MCM10, OPTN 1 0 0 0 0 0 0 1
LOC108903148, LOC108903149, LOC130003372, OPTN 1 0 0 0 0 0 0 1
LOC108903148, LOC108903149, OPTN 1 0 0 0 0 0 0 1
LOC124629354, PRPH, TROAP 0 0 1 0 0 0 0 1
LOC129994755, MATR3, SNHG4 0 0 1 0 0 0 0 1
LOC129995449, SQSTM1 0 0 1 0 0 0 0 1
LOC130001690, VCP 0 0 0 1 0 0 0 1
LRRK2 0 0 1 0 0 0 0 1
MAPT, STH 0 0 1 0 0 0 0 1
SCAF4, SOD1 1 0 0 0 0 0 0 1
TM2D3 0 0 1 0 0 0 0 1
TNK1 0 0 1 0 0 0 0 1
UNC13A 0 1 0 0 0 0 0 1
VPS13C 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 67
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 204 76 1612 1429 231 0 0 3552
Illumina Laboratory Services, Illumina 1 0 440 98 235 0 0 770
OMIM 130 0 0 0 0 0 0 130
Fulgent Genetics, Fulgent Genetics 10 2 24 21 8 0 0 65
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 11 30 3 0 0 0 0 44
Mendelics 8 4 6 2 8 0 0 28
Revvity Omics, Revvity 2 0 25 0 0 0 0 27
GeneReviews 0 0 0 0 0 0 23 23
Genome-Nilou Lab 0 0 0 0 22 0 0 22
MGZ Medical Genetics Center 2 8 8 0 0 0 0 18
Human Genetics Group at Institute of Prion Diseases London, University College London 9 5 0 0 0 0 0 14
Molecular Genetics, Royal Melbourne Hospital 2 3 7 0 2 0 0 14
Guerreiro-Bras Laboratory, Van Andel Institute 0 14 0 0 0 0 0 14
Human Genetics Bochum, Ruhr University Bochum 5 3 6 0 0 0 0 14
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 9 3 0 0 0 0 0 12
Baylor Genetics 0 2 8 0 0 0 0 10
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 3 7 0 0 10
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 7 0 0 9
Centogene AG - the Rare Disease Company 1 2 5 0 0 0 0 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 6 0 0 1 0 8
Neuberg Centre For Genomic Medicine, NCGM 3 1 4 0 0 0 0 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 2 0 0 0 0 7
Translational Genetics in Neurodegenerative disease, Karolinska Institutet 6 0 0 0 0 0 0 6
Weber Lab, Hannover Medical School 2 0 4 0 0 0 0 6
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 4 1 0 0 0 6
Athena Diagnostics Inc 0 0 0 0 5 0 0 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 5 0 0 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 3 0 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 1 3 0 0 0 0 5
3billion 1 3 1 0 0 0 0 5
Institute of Human Genetics, Cologne University 4 0 0 0 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 4 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 4 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 3 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 1 0 0 0 3
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 2 1 0 0 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 1 0 0 0 0 0 2
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 1 1 0 0 0 0 2
Myllykangas group, University of Helsinki 0 0 1 1 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 2 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 1
Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center 0 1 0 0 0 0 0 1
UniProtKB/Swiss-Prot 0 1 0 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 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
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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Neurology Department, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University 1 0 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
Molecular Genetics Lab, CHRU Brest 0 1 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 1
Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria 0 0 1 0 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 1 0 0 0 0 0 0 1
Department of Research, Sir Ganga Ram Hospital 0 1 0 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 1 0 0 0 0 1
Department of Neurology-Cell Therapy Center, Hanyang University 1 0 0 0 0 0 0 1

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