ClinVar Miner

Variants studied for Alzheimer disease type 1

Included ClinVar conditions (6):
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 total
17 7 30 6 2 62

Gene and significance breakdown #

Total genes and gene combinations: 11
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
APP 13 3 12 4 0 32
HFE 2 2 7 0 0 11
MPO 0 1 4 1 0 6
NOS3 0 0 3 1 1 5
LOC106694315, MPO 0 1 1 0 0 2
APP, LOC126653330 0 0 1 0 0 1
BLMH, LOC126862530 0 0 0 0 1 1
C10orf55, LOC126860960, PLAU 0 0 1 0 0 1
C10orf55, LOC130004104, PLAU 0 0 1 0 0 1
LOC106694316, MPO 1 0 0 0 0 1
LPO, MPO 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Fulgent Genetics, Fulgent Genetics 4 3 11 6 1 25
OMIM 13 0 0 0 1 14
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 8 0 1 9
Medical Genetics Unit, Mauro Baschirotto Institute for Rare Disease 0 0 3 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 0 2 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 2 0 0 2
Mendelics 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
3billion 0 0 1 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.