ClinVar Miner

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

Included ClinVar conditions (12):
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
94 17 130 50 43 1 320

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
GRN 54 3 61 24 16 0 147
MAPT 20 3 29 10 13 0 72
PSEN1 20 8 21 4 5 0 57
CHMP2B 0 0 6 3 0 0 9
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
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
ASB16, ATXN7L3, G6PC3, GRN, HDAC5, HROB, LSM12, RUNDC3A, SLC25A39, SLC4A1, TMUB2, UBTF 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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 34 4 72 24 28 0 162
Illumina Clinical Services Laboratory,Illumina 0 0 43 28 16 0 87
OMIM 36 0 0 0 0 0 36
Institute of Human Genetics,Klinikum rechts der Isar 18 2 0 0 0 0 20
Human Genetics Group at Institute of Prion Diseases London,University College London 9 5 0 0 0 0 14
Mendelics 5 1 1 1 3 0 11
Athena Diagnostics Inc 0 0 0 0 9 0 9
Fulgent Genetics,Fulgent Genetics 3 2 4 0 0 0 9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 5 0 0 1 7
Translational Genetics in Neurodegenerative disease,Karolinska Institutet 6 0 0 0 0 0 6
GeneReviews 3 0 0 0 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 2 0 0 0 0 0 2
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
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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1

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