ClinVar Miner

Variants studied for Alzheimer disease type 1

Included ClinVar conditions (4):
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
21 11 75 29 24 152

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
APP 16 0 69 26 22 125
PSEN1 1 5 1 0 1 8
HFE 2 0 1 0 0 3
PSEN2 0 0 1 1 1 3
CSF1R 0 2 0 0 0 2
ADAMTS1, ADAMTS5, APP, ATP5PF, BTG3, C21orf91, CHODL, CXADR, CYYR1, GABPA, HSPA13, JAM2, LIPI, MIR125B2, MIR155, MIR99A, MIRLET7C, MRPL39, NCAM2, NRIP1, POTED, RBM11, SAMSN1, TMPRSS15, USP25 1 0 0 0 0 1
APOE 0 1 0 0 0 1
CLU 0 0 0 1 0 1
GRN 0 1 0 0 0 1
MAPT 0 1 0 0 0 1
MPO 0 0 1 0 0 1
MT-ND1 1 0 0 0 0 1
NOS3 0 0 1 0 0 1
PCDH11X 0 0 0 1 0 1
UNC13C 0 0 1 0 0 1
VCP 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 48 13 11 72
Invitae 5 0 21 13 17 56
OMIM 15 0 0 0 0 15
Human Genetics Group at Institute of Prion Diseases London,University College London 1 10 0 0 0 11
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 2 1 2 5
GeneReviews 4 0 0 0 0 4
Myllykangas group,University of Helsinki 0 0 1 2 0 3
Baylor Genetics 0 0 2 0 0 2
Fulgent Genetics,Fulgent Genetics 1 0 1 0 0 2
Alzheimer's disease and other cognitive disorders unit,Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1

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