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
30 10 160 110 115 1 62 399

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 6 6 27 59 80 0 61 200
Frontotemporal dementia 22 4 56 47 29 0 0 154
MAPT-Related Spectrum Disorders 0 0 74 11 39 0 1 125
not specified 0 0 2 0 21 0 0 23
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; Progressive supranuclear palsy-parkinsonism 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
Progressive supranuclear palsy-parkinsonism syndrome 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 7 1 52 71 30 0 0 161
Illumina Laboratory Services,Illumina 0 0 74 11 39 0 0 124
GeneDx 3 1 8 17 78 0 0 107
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
CeGaT Center for Human Genetics Tuebingen 3 1 14 5 0 0 0 23
Genome Diagnostics Laboratory, Amsterdam University Medical Center 2 0 0 4 17 0 0 23
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 2 0 0 5 9 0 0 16
Mendelics 3 0 1 1 2 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 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
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 0 1 0 0 0 0 2
Ambry Genetics 0 0 1 0 0 0 0 1
PerkinElmer Genomics 0 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 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
GenomeConnect, ClinGen 0 0 0 0 0 0 1 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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