ClinVar Miner

Variants studied for Alzheimer disease

Included ClinVar conditions (16):
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
76 21 206 63 75 3 418

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 47 13 99 23 27 0 203
APP 15 1 65 21 22 0 115
PSEN2 10 1 39 17 26 0 84
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 1 0 0 0 1 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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 168 45 55 0 268
Invitae 22 3 34 15 32 0 106
OMIM 52 0 1 0 0 2 55
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/Clinical Genomics Section,National Institutes of Health 0 0 2 1 2 0 5
Fulgent Genetics,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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 0 1 2
Mendelics 1 0 0 0 1 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 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
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 0 1 0 0 0 0 1
Laboratorio de Biología Molecular,FLENI 0 1 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Department of Psychiatry and Medical Psychology,Medical University Pleven 0 1 0 0 0 0 1

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