ClinVar Miner

Variants in gene MAPT

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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
29 8 117 87 113 1 61 337

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 5 4 18 58 78 0 61 189
MAPT-Related Spectrum Disorders 0 0 62 11 37 0 0 110
Frontotemporal dementia 20 3 32 22 29 0 0 103
not specified 0 0 2 0 20 0 0 22
Pick disease 4 0 2 0 0 0 0 6
Progressive supranuclear ophthalmoplegia 4 0 2 0 0 0 0 6
Frontotemporal dementia; Parkinson disease, late-onset; Parkinson-dementia syndrome; Pick disease; Progressive supranuclear ophthalmoplegia 3 0 1 0 0 0 0 4
Malignant tumor of prostate 0 0 3 0 0 0 0 3
Parkinson disease, late-onset 0 0 1 0 0 1 0 2
Alzheimer disease 0 1 0 0 0 0 0 1
Dementia 1 0 0 0 0 0 0 1
Early-onset dementia of unclear type 0 0 1 0 0 0 0 1
Frontotemporal dementia; Memory impairment; Mental deterioration 1 0 0 0 0 0 0 1
Frontotemporal dementia; Pick disease; Progressive supranuclear ophthalmoplegia 0 0 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 0 1
Multiple system atrophy 0 0 1 0 0 0 0 1
Parkinson-dementia syndrome 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 5 0 30 48 30 0 0 113
Illumina Clinical Services Laboratory,Illumina 0 0 62 11 37 0 0 110
GeneDx 2 0 4 18 76 0 0 100
VIB Department of Molecular Genetics, University of Antwerp 0 0 0 0 0 0 61 61
OMIM 25 0 0 0 0 1 0 25
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 4 17 0 0 22
Athena Diagnostics Inc 4 2 3 2 9 0 0 20
PreventionGenetics,PreventionGenetics 0 0 0 0 18 0 0 18
Clinical Genetics,Academic Medical Center 0 0 0 1 17 0 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 11 2 0 0 0 14
Mendelics 3 0 1 1 2 0 0 7
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 7 0 0 7
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 4 0 0 6
Institute of Human Genetics, Klinikum rechts der Isar 4 2 0 0 0 0 0 6
Fulgent Genetics,Fulgent Genetics 3 0 1 0 0 0 0 4
Science for Life laboratory, Karolinska Institutet 0 0 3 0 0 0 0 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 1 0 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Human Genetics Group at Institute of Prion Diseases London,University College London 0 2 0 0 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 0 1

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