ClinVar Miner

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

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 not provided total
180 60 510 402 78 1 3 1191

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
GRN 85 14 278 216 25 0 3 589
MAPT 25 8 113 102 30 0 0 272
PSEN1 61 19 88 60 13 0 0 237
GRN, LOC125177489 7 0 10 12 1 0 0 29
TARDBP 0 1 5 3 0 0 0 9
CHMP2B 0 0 5 3 0 0 0 8
CHMP2B, POU1F1 0 0 0 2 6 0 0 8
MASP2, TARDBP 0 0 0 3 3 0 0 6
SETX 0 3 0 0 0 0 0 3
CHRNB4 0 2 0 0 0 0 0 2
MARCHF4 0 0 1 1 0 0 0 2
MEF2C 0 1 1 0 0 0 0 2
TREM2 1 1 0 0 0 0 0 2
ABCA7 0 0 0 0 0 1 0 1
ANG, EGILA, RNASE4 0 1 0 0 0 0 0 1
ARSA 0 0 1 0 0 0 0 1
ASB16, ATXN7L3, G6PC3, GRN, HDAC5, HROB, LSM12, RUNDC3A, SLC25A39, SLC4A1, TMUB2, UBTF 0 0 1 0 0 0 0 1
CCNF 0 1 0 0 0 0 0 1
CHMP2B, LOC129937085 0 0 1 0 0 0 0 1
CHRNA4 0 1 0 0 0 0 0 1
CRHR1, KANSL1, MAPT, SPPL2C, STH 0 0 1 0 0 0 0 1
CSF1R 0 1 0 0 0 0 0 1
DCTN1 0 1 0 0 0 0 0 1
ERBB4 0 1 0 0 0 0 0 1
FAM171A2, GRN 1 0 0 0 0 0 0 1
FUS 0 1 0 0 0 0 0 1
GLT8D1 0 1 0 0 0 0 0 1
HNRNPA2B1 0 1 0 0 0 0 0 1
LOC108903148, OPTN 0 1 0 0 0 0 0 1
LRRK2 0 0 1 0 0 0 0 1
MAPT, STH 0 0 1 0 0 0 0 1
TBK1 0 1 0 0 0 0 0 1
TM2D3 0 0 1 0 0 0 0 1
TNK1 0 0 1 0 0 0 0 1
VPS13C 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 133 26 444 373 64 0 0 1040
Illumina Laboratory Services, Illumina 0 0 43 28 16 0 0 87
Fulgent Genetics, Fulgent Genetics 6 2 30 11 2 0 0 51
OMIM 33 0 0 0 0 0 0 33
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 18 2 0 0 0 0 0 20
Human Genetics Group at Institute of Prion Diseases London, University College London 9 5 0 0 0 0 0 14
Guerreiro-Bras Laboratory, Van Andel Institute 0 14 0 0 0 0 0 14
Mendelics 7 1 1 1 3 0 0 13
Athena Diagnostics 0 0 0 0 7 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 5 0 0 1 0 7
Translational Genetics in Neurodegenerative disease, Karolinska Institutet 6 0 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 3 0 2 0 0 0 0 5
MGZ Medical Genetics Center 1 1 1 0 0 0 0 3
GeneReviews 0 0 0 0 0 0 3 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 1 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 2 0 0 0 0 0 0 2
Center for Neuroscience and Cell Biology, University of Coimbra, Portugal 0 1 1 0 0 0 0 2
Myllykangas group, University of Helsinki 0 0 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 0 2
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 1 0 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 2 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 0 1
Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London 0 1 0 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 0 1
Department of Medicine, Surgery and Dentistry, Scuola Medica Salernitana, University of Salerno 0 1 0 0 0 0 0 1

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