ClinVar Miner

Variants studied for Alzheimer disease

Included ClinVar conditions (17):
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
81 27 243 74 75 5 473

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
PSEN1 50 19 112 24 27 0 223
APP 16 1 74 28 22 0 131
PSEN2 10 1 44 20 26 0 91
HFE 2 0 1 0 0 0 3
ABCA7 0 0 0 0 0 2 2
ADAM10 0 0 0 0 0 2 2
APOE 1 1 2 0 0 1 2
CSF1R 0 2 0 0 0 0 2
VPS13C 0 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 0 1
CLU 0 0 0 1 0 0 1
GRID2IP 0 0 1 0 0 0 1
GRN 0 1 0 0 0 0 1
MAPT 0 1 0 0 0 0 1
MPO 0 0 1 0 0 0 1
MT-ND1 1 0 0 0 0 0 1
NOS3 0 0 1 0 0 0 1
PCDH11X 0 0 0 1 0 0 1
PLCD1 0 0 1 0 0 0 1
PLD3 0 0 1 0 0 0 1
TM2D3 0 0 1 0 0 0 1
TNK1 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: 30
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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 26 6 61 26 33 0 152
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 8 0 0 2 10
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
Institute of Human Genetics, Klinikum rechts der Isar 3 0 0 0 0 0 3
Myllykangas group,University of Helsinki 0 0 1 2 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases,University of Belgrade, School of Medicine 2 0 0 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
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
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 1
Laboratorio de Biología Molecular,FLENI 0 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 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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