ClinVar Miner

Variants studied for Frontotemporal dementia

Coded as:
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 total
45 34 129 113 40 354

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 total
MAPT 26 10 108 101 30 268
GRN 15 2 3 0 0 20
TARDBP 0 1 5 3 0 9
CHMP2B 0 0 5 3 0 8
CHMP2B, POU1F1 0 0 0 2 6 8
PSEN1 2 4 1 0 1 8
MASP2, TARDBP 0 0 0 3 3 6
SETX 0 3 0 0 0 3
CHRNB4 0 2 0 0 0 2
MARCHF4 0 0 1 1 0 2
MEF2C 0 1 1 0 0 2
TREM2 1 1 0 0 0 2
ANG, EGILA, RNASE4 0 1 0 0 0 1
ARSA 0 0 1 0 0 1
CCNF 0 1 0 0 0 1
CHMP2B, LOC129937085 0 0 1 0 0 1
CHRNA4 0 1 0 0 0 1
CRHR1, KANSL1, MAPT, SPPL2C, STH 0 0 1 0 0 1
CSF1R 0 1 0 0 0 1
DCTN1 0 1 0 0 0 1
ERBB4 0 1 0 0 0 1
FUS 0 1 0 0 0 1
GLT8D1 0 1 0 0 0 1
GRN, LOC125177489 1 0 0 0 0 1
HNRNPA2B1 0 1 0 0 0 1
LOC108903148, OPTN 0 1 0 0 0 1
MAPT, STH 0 0 1 0 0 1
TUBB4A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 10 5 104 101 30 250
Illumina Laboratory Services, Illumina 0 0 14 11 9 34
OMIM 18 0 0 0 0 18
Human Genetics Group at Institute of Prion Diseases London, University College London 9 5 0 0 0 14
Guerreiro-Bras Laboratory, Van Andel Institute 0 14 0 0 0 14
Mendelics 3 1 1 1 2 8
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 4 2 0 0 0 6
Translational Genetics in Neurodegenerative disease, Karolinska Institutet 6 0 0 0 0 6
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 3 2 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 3
MGZ Medical Genetics Center 0 1 1 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 1 0 0 2
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 1 1 0 0 2
Myllykangas group, University of Helsinki 0 0 1 1 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 2
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 1

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