ClinVar Miner

Variants studied for Grn-related frontotemporal lobar degeneration with Tdp43 inclusions

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
83 13 108 48 29 272

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GRN 48 3 30 11 11 96
MAPT 20 3 20 4 4 49
TARDBP 0 1 33 9 1 44
CHMP2B 0 0 11 18 3 32
PSEN1 15 5 11 0 1 32
CHMP2B, POU1F1 0 0 0 2 6 8
MASP2, TARDBP 0 0 0 3 3 6
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: 17
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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 22 2 39 3 4 70
OMIM 36 0 0 0 0 36
Institute of Human Genetics,Klinikum rechts der Isar 16 2 0 0 0 18
Human Genetics Group at Institute of Prion Diseases London,University College London 9 5 0 0 0 14
Mendelics 5 1 1 1 3 11
Athena Diagnostics Inc 0 0 0 0 9 9
Fulgent Genetics,Fulgent Genetics 3 2 4 0 0 9
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 of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 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
GeneReviews 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 1

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