ClinVar Miner

Variants studied for Alzheimer disease

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 not provided total
138 75 536 371 112 20 1154

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
APP 21 6 189 178 40 4 408
PSEN1 92 54 171 84 36 14 408
PSEN2 11 2 125 91 32 2 242
APOE 1 3 14 3 1 0 20
APP, LOC126653330 0 0 12 8 0 0 19
HFE 3 2 7 0 0 0 12
MPO 0 1 5 1 0 0 7
NOS3 0 0 4 1 1 0 6
ADAM10 2 0 0 1 0 0 3
APP, APP-DT 0 0 1 2 0 0 2
CSF1R 0 2 0 0 0 0 2
LOC106694315, MPO 0 1 1 0 0 0 2
ABCA7 1 0 0 0 0 0 1
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
ADAMTS1, ADAMTS5, APP, ATP5PF, CYYR1, GABPA, JAM2, MIR155, MRPL39 1 0 0 0 0 0 1
APP, GABPA 1 0 0 0 0 0 1
BLMH, LOC126862530 0 0 0 0 1 0 1
C10orf55, LOC126860960, PLAU 0 0 1 0 0 0 1
C10orf55, LOC130004104, PLAU 0 0 1 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
LOC106694316, MPO 1 0 0 0 0 0 1
LOC129388763, LOC129932680, PSEN2 1 0 0 0 0 0 1
LOC129932678, PSEN2 0 0 0 0 1 0 1
LPO, MPO 1 0 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
PLCD1 0 0 1 0 0 0 1
PLD3 0 0 1 0 0 0 1
SORCS1 0 1 0 0 0 0 1
UNC13C 0 0 1 0 0 0 1
VCP 0 1 0 0 0 0 1
VPS13C 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 63
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 82 19 319 324 66 0 810
Illumina Laboratory Services, Illumina 0 0 156 40 55 0 251
OMIM 54 0 1 0 1 0 56
Fulgent Genetics, Fulgent Genetics 8 6 27 13 1 0 55
Department of Pathology and Laboratory Medicine, Sinai Health System 1 1 20 0 2 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 12 0 0 0 0 21
GeneReviews 1 0 0 0 0 19 20
Medical Genetics Unit, Mauro Baschirotto Institute for Rare Disease 2 3 7 0 0 0 12
Human Genetics Group at Institute of Prion Diseases London, University College London 1 10 0 0 0 0 11
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 2 3 0 0 0 10
Genome-Nilou Lab 0 0 0 0 9 0 9
3billion 1 2 4 0 0 0 7
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 2 3 2 0 0 0 7
Institute of Human Genetics Munich, TUM University Hospital 5 2 0 0 0 0 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 6 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 5 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 6 0 0 0 0 0 6
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 2 1 2 0 5
Neuberg Centre For Genomic Medicine, NCGM 1 1 3 0 0 0 5
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara 2 1 0 0 1 0 4
Mendelics 2 1 0 0 1 0 4
Baylor Genetics 1 0 2 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 2 0 0 0 3
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Molecular Genetics, Royal Melbourne Hospital 2 1 0 0 0 0 3
Myllykangas group, University of Helsinki 0 0 1 2 0 0 3
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 3 0 0 0 0 0 3
Athena Diagnostics 0 0 0 0 2 0 2
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 0 2
MGZ Medical Genetics Center 1 1 0 0 0 0 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 2 0 0 0 0 2
Alzheimer's disease and other cognitive disorders unit, Hospital Clínic de Barcelona_IDIBAPS 1 0 0 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 0 1 0 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
Department Of Medical Genetics, Medical University Pleven 0 1 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Laboratorio de Biología Molecular, FLENI 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 1 0 0 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 0 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 0 1

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