ClinVar Miner

Variants studied for Alzheimer disease

Included ClinVar conditions (13):
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 total
69 15 119 53 12 2 259

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 risk factor total
PSEN1 40 9 60 19 3 0 128
APP 15 0 31 15 2 0 61
PSEN2 10 1 25 17 7 0 54
ADAM10 0 0 0 0 0 2 2
CSF1R 0 2 0 0 0 0 2
HFE, LOC108783645 1 0 1 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 0 1
APOE 1 0 0 0 0 0 1
CLU 0 0 0 1 0 0 1
GRN 0 1 0 0 0 0 1
MAPT 0 1 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 1
PCDH11X 0 0 0 1 0 0 1
PLD3 0 0 1 0 0 0 1
UNC13C 0 0 1 0 0 0 1
VCP 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 106 47 0 0 153
OMIM 52 0 1 0 0 2 55
Invitae 14 1 7 3 10 0 35
GeneReviews 20 0 0 0 0 0 20
Human Genetics Group at Institute of Prion Diseases London,University College London 1 10 0 0 0 0 11
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 2 1 2 0 5
Fulgent Genetics 1 2 2 0 0 0 5
Myllykangas group,University of Helsinki 0 0 1 2 0 0 3
Athena Diagnostics Inc 0 0 0 0 2 0 2
Alzheimer's disease and other cognitive disorders unit,Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Laboratorio de Biología Molecular,FLENI 0 1 0 0 0 0 1

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