ClinVar Miner

Variants studied for behavioral variant of frontotemporal dementia

Included ClinVar conditions (11):
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 total
58 10 92 50 24 229

Gene and significance breakdown #

Total genes and gene combinations: 11
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MAPT 17 1 19 6 5 48
TARDBP 0 0 33 9 1 43
CHMP2B 7 0 15 18 5 41
GRN 15 2 12 11 1 41
PSEN1 15 5 10 0 3 33
CHMP2B, POU1F1 0 0 0 2 6 8
MASP2, TARDBP 0 0 0 3 3 6
SQSTM1 4 1 0 0 0 4
MARCHF4 0 0 1 1 0 2
MEF2C 0 1 1 0 0 2
LRRK2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 57 43 14 114
Invitae 17 1 28 6 10 62
OMIM 26 0 0 0 0 26
Human Genetics Group at Institute of Prion Diseases London,University College London 9 5 0 0 0 14
GeneReviews 6 0 1 0 0 7
Fulgent Genetics,Fulgent Genetics 3 2 1 0 0 6
Translational Genetics in Neurodegenerative disease,Karolinska Institutet 6 0 0 0 0 6
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1

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