ClinVar Miner

Variants from Human Genetics Group at Institute of Prion Diseases London,University College London

Location: United Kingdom — Primary collection method: research
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 total
10 16 0 0 0 26

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic total
GRN 9 3 12
PSEN1 1 7 8
CSF1R 0 2 2
MAPT 0 2 2
PSEN2 0 1 1
VCP 0 1 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic total
Frontotemporal dementia 9 5 14
Alzheimer's disease 1 10 11
Huntington disease-like syndrome 0 1 1

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