ClinVar Miner

Variants studied for behavioral variant of frontotemporal dementia

Included ClinVar conditions (14):
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 total
68 20 114 40 50 1 281

Gene and significance breakdown #

Total genes and gene combinations: 17
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
MAPT 20 3 34 16 13 0 83
PSEN1 21 10 30 5 5 0 70
CHMP2B 8 0 33 10 23 0 68
GRN 15 2 3 0 0 0 20
TARDBP 0 1 5 3 0 0 9
CHMP2B, POU1F1 0 0 0 2 6 0 8
MASP2, TARDBP 0 0 0 3 3 0 6
SQSTM1 4 2 2 0 0 0 6
MARCHF4 0 0 1 1 0 0 2
MEF2C 0 1 1 0 0 0 2
ABCA7 0 0 0 0 0 1 1
ARSA 0 0 1 0 0 0 1
CSF1R 0 1 0 0 0 0 1
LRRK2 0 0 1 0 0 0 1
TM2D3 0 0 1 0 0 0 1
TNK1 0 0 1 0 0 0 1
VPS13C 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 24 5 65 26 20 0 140
Illumina Clinical Services Laboratory,Illumina 0 0 34 14 31 0 77
OMIM 28 0 0 0 0 0 28
Human Genetics Group at Institute of Prion Diseases London,University College London 9 5 0 0 0 0 14
Mendelics 3 1 1 1 2 0 8
GeneReviews 6 0 1 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 5 0 0 1 7
Fulgent Genetics,Fulgent Genetics 3 2 1 0 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 4 2 0 0 0 0 6
Translational Genetics in Neurodegenerative disease,Karolinska Institutet 6 0 0 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 3 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 0 3
Center for Neuroscience and Cell Biology,University of Coimbra, Portugal 0 1 1 0 0 0 2
Myllykangas group,University of Helsinki 0 0 1 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1

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