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
26 5 73 18 31 1 61 161

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
not provided 4 3 12 0 1 0 61 74
MAPT-Related Spectrum Disorders 0 0 38 13 13 0 0 64
Frontotemporal dementia 17 1 17 6 5 0 0 46
not specified 0 0 2 0 19 0 0 21
Pick's 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's 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's disease 0 1 0 0 0 0 0 1
Dementia 1 0 0 0 0 0 0 1
Frontotemporal dementia; Memory impairment; Mental deterioration 1 0 0 0 0 0 0 1
Frontotemporal dementia; Pick's disease; Progressive supranuclear ophthalmoplegia 0 0 1 0 0 0 0 1
Shy-Drager syndrome 0 0 1 0 0 0 0 1
Supranuclear palsy, progressive, 1, atypical 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 38 13 13 0 0 64
VIB Department of Molecular Genetics, University of Antwerp 0 0 0 0 0 0 61 61
Invitae 3 0 15 6 5 0 0 29
OMIM 25 0 0 0 0 1 0 25
PreventionGenetics 0 0 0 0 18 0 0 18
Athena Diagnostics Inc 4 2 2 0 7 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 0 0 0 0 9
GeneDx 0 0 4 0 0 0 0 4
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
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
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

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