ClinVar Miner

Variants studied for Alzheimer disease

Included ClinVar conditions (25):
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 established risk allele risk factor not provided total
114 50 433 305 110 1 5 20 962

Gene and significance breakdown #

Total genes and gene combinations: 33
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele risk factor not provided total
PSEN1 75 34 157 70 36 0 0 14 358
APP 19 3 150 142 40 0 0 4 331
PSEN2 9 1 93 75 32 0 0 2 195
APP, LOC126653330 0 0 8 7 0 0 0 0 15
HFE 3 2 7 0 0 0 0 0 12
APOE 1 2 5 3 0 1 1 0 10
NOS3 0 0 3 1 1 0 0 0 5
MPO 1 1 1 1 0 0 0 0 4
ADAM10 0 0 0 1 0 0 2 0 3
ABCA7 0 0 0 0 0 0 2 0 2
APP, APP-DT 0 0 1 2 0 0 0 0 2
CSF1R 0 2 0 0 0 0 0 0 2
LOC129932678, PSEN2 0 0 0 1 1 0 0 0 2
VPS13C 0 0 2 0 0 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 0 0 1
ADAMTS1, ADAMTS5, APP, ATP5PF, CYYR1, GABPA, JAM2, MIR155, MRPL39 1 0 0 0 0 0 0 0 1
APP, GABPA 1 0 0 0 0 0 0 0 1
CLU 0 0 0 1 0 0 0 0 1
GRID2IP 0 0 1 0 0 0 0 0 1
GRN 0 1 0 0 0 0 0 0 1
LOC106694315, MPO 0 1 0 0 0 0 0 0 1
LOC106694316, MPO 1 0 0 0 0 0 0 0 1
LOC129388763, LOC129932680, PSEN2 1 0 0 0 0 0 0 0 1
MAPT 0 1 0 0 0 0 0 0 1
MT-ND1 1 0 0 0 0 0 0 0 1
PCDH11X 0 0 0 1 0 0 0 0 1
PLCD1 0 0 1 0 0 0 0 0 1
PLD3 0 0 1 0 0 0 0 0 1
SORCS1 0 1 0 0 0 0 0 0 1
TM2D3 0 0 1 0 0 0 0 0 1
TNK1 0 0 1 0 0 0 0 0 1
UNC13C 0 0 1 0 0 0 0 0 1
VCP 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 52
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele risk factor not provided total
Invitae 61 16 242 253 66 0 0 0 638
Illumina Laboratory Services, Illumina 0 0 168 45 55 0 0 0 268
OMIM 52 0 1 0 0 0 2 0 55
Fulgent Genetics, Fulgent Genetics 7 6 26 13 1 0 0 0 53
GeneReviews 1 0 0 0 0 0 0 19 20
Human Genetics Group at Institute of Prion Diseases London, University College London 1 10 0 0 0 0 0 0 11
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 4 0 0 0 0 0 0 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 8 0 0 0 2 0 10
Genome-Nilou Lab 0 0 0 0 9 0 0 0 9
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 5 1 0 0 0 0 0 0 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 1 2 0 0 0 5
Mendelics 2 1 0 0 1 0 0 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 1 0 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 1 1 2 0 0 0 0 0 4
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 2 1 0 0 1 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 0 0 3
Myllykangas group, University of Helsinki 0 0 1 2 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 0 0 0 0 0 0 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 3 0 0 0 0 0 0 0 3
3billion 1 1 1 0 0 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 0 0 1 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 0 0 2
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 1 0 0 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 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 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 2 0 0 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 1 1 0 0 0 0 0 0 2
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 1 1
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 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 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 1 0 0 1
Laboratorio de Biología Molecular, FLENI 0 1 0 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 0 0 1
Department of Psychiatry and Medical Psychology, Medical University Pleven 0 1 0 0 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 0 0 1

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