ClinVar Miner

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

Included ClinVar conditions (15):
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 not provided total
186 62 508 402 78 3 1194

Gene and significance breakdown #

Total genes and gene combinations: 32
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GRN 88 14 277 216 25 3 591
MAPT 26 10 113 102 30 0 273
PSEN1 62 19 89 60 13 0 239
GRN, LOC125177489 8 0 10 12 1 0 30
TARDBP 0 1 5 3 0 0 9
CHMP2B 0 0 5 3 0 0 8
CHMP2B, POU1F1 0 0 0 2 6 0 8
MASP2, TARDBP 0 0 0 3 3 0 6
SETX 0 3 0 0 0 0 3
CHRNB4 0 2 0 0 0 0 2
MARCHF4 0 0 1 1 0 0 2
MEF2C 0 1 1 0 0 0 2
TREM2 1 1 0 0 0 0 2
ANG, EGILA, RNASE4 0 1 0 0 0 0 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
CCNF 0 1 0 0 0 0 1
CHMP2B, LOC129937085 0 0 1 0 0 0 1
CHRNA4 0 1 0 0 0 0 1
CRHR1, KANSL1, MAPT, SPPL2C, STH 0 0 1 0 0 0 1
CSF1R 0 1 0 0 0 0 1
DCTN1 0 1 0 0 0 0 1
ERBB4 0 1 0 0 0 0 1
FAM171A2, GRN 1 0 0 0 0 0 1
FUS 0 1 0 0 0 0 1
GLT8D1 0 1 0 0 0 0 1
HNRNPA2B1 0 1 0 0 0 0 1
LOC108903148, OPTN 0 1 0 0 0 0 1
LRRK2 0 0 1 0 0 0 1
MAPT, STH 0 0 1 0 0 0 1
TBK1 0 1 0 0 0 0 1
TUBB4A 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 45
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 133 26 444 373 64 0 1040
Illumina Laboratory Services, Illumina 0 0 42 28 16 0 86
Fulgent Genetics, Fulgent Genetics 6 2 30 11 2 0 51
OMIM 37 0 0 0 0 0 37
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 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
Guerreiro-Bras Laboratory, Van Andel Institute 0 14 0 0 0 0 14
Mendelics 7 1 1 1 3 0 13
Athena Diagnostics 0 0 0 0 7 0 7
Translational Genetics in Neurodegenerative disease, Karolinska Institutet 6 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 0 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 1 0 0 0 5
Molecular Genetics, Royal Melbourne Hospital 3 0 2 0 0 0 5
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 3 2 0 0 0 0 5
MGZ Medical Genetics Center 1 1 1 0 0 0 3
GeneReviews 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 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 2 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 2 0 1 0 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 1 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 1 1 0 0 0 0 2
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 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 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Department of Clinical and Movement Neurosciences, Institute of Neurology, University College London 0 1 0 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 0 1
Department of Medicine, Surgery and Dentistry, Scuola Medica Salernitana, University of Salerno 0 1 0 0 0 0 1

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