ClinVar Miner

Variants studied for behavioral variant of frontotemporal dementia

Included ClinVar conditions (18):
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
114 52 314 208 78 1 8 746

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
MAPT 26 10 113 102 30 0 0 273
PSEN1 61 19 89 60 13 0 0 238
CHMP2B 6 0 72 35 22 0 8 129
SQSTM1 4 3 15 2 3 0 0 24
GRN 15 2 4 0 0 0 0 21
CHMP2B, POU1F1 0 0 1 2 6 0 0 9
TARDBP 0 1 5 3 0 0 0 9
MASP2, TARDBP 0 0 0 3 3 0 0 6
CHMP2B, LOC129937086 0 0 2 0 1 0 0 3
SETX 0 3 0 0 0 0 0 3
CHMP2B, LOC129937085 0 0 2 0 0 0 0 2
CHRNB4 0 2 0 0 0 0 0 2
MARCHF4 0 0 1 1 0 0 0 2
MEF2C 0 1 1 0 0 0 0 2
TREM2 1 1 0 0 0 0 0 2
ABCA7 0 0 0 0 0 1 0 1
ANG, EGILA, RNASE4 0 1 0 0 0 0 0 1
ARSA 0 0 1 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
DCTN1 0 1 0 0 0 0 0 1
ERBB4 0 1 0 0 0 0 0 1
ERCC4, LOC130058543 0 0 1 0 0 0 0 1
FUS 0 1 0 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, OPTN 0 1 0 0 0 0 0 1
LOC129995449, SQSTM1 0 0 1 0 0 0 0 1
LRRK2 0 0 1 0 0 0 0 1
MAPT, STH 0 0 1 0 0 0 0 1
TM2D3 0 0 1 0 0 0 0 1
TNK1 0 0 1 0 0 0 0 1
VPS13C 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 69 18 236 191 50 0 0 564
Illumina Laboratory Services, Illumina 0 0 33 14 31 0 0 76
OMIM 28 0 0 0 0 0 0 28
Fulgent Genetics, Fulgent Genetics 6 2 9 5 1 0 0 23
Human Genetics Group at Institute of Prion Diseases London, University College London 9 5 0 0 0 0 0 14
Guerreiro-Bras Laboratory, Van Andel Institute 0 14 0 0 0 0 0 14
Mendelics 3 1 1 1 2 0 0 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 7 0 0 0 0 8
GeneReviews 0 0 0 0 0 0 7 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 5 0 0 1 0 7
Molecular Genetics, Royal Melbourne Hospital 1 0 6 0 0 0 0 7
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 0 0 6
Translational Genetics in Neurodegenerative disease, Karolinska Institutet 6 0 0 0 0 0 0 6
Genome-Nilou Lab 0 0 0 0 5 0 0 5
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 3 2 0 0 0 0 0 5
MGZ Medical Genetics Center 0 1 3 0 0 0 0 4
Centogene AG - the Rare Disease Company 1 0 3 0 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 1 0 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 0 0 0 3
Baylor Genetics 0 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1 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
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 1 0 0 0 0 0 2
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
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
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 0 1
3billion 0 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1

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