ClinVar Miner

Variants in gene PSEN1

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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
59 28 85 30 9 141 290

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 15 12 10 7 141 175
Dilated Cardiomyopathy, Dominant 0 0 56 19 0 0 75
Early-Onset Familial Alzheimer Disease 0 0 56 19 0 0 75
Alzheimer disease, type 3 36 4 1 0 0 0 40
Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 14 1 10 0 1 0 26
Alzheimer disease 1 5 1 0 1 0 8
not specified 0 0 4 1 3 0 8
Alzheimer disease, familial, with spastic paraparesis and unusual plaques 3 0 0 0 0 0 3
Frontotemporal dementia 1 2 0 0 0 0 3
Alzheimer disease, familial, 3, with spastic paraparesis and apraxia 2 0 0 0 0 0 2
Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques 2 0 0 0 0 0 2
Alzheimer disease, familial, 3, with unusual plaques 2 0 0 0 0 0 2
Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Cardiomyopathy, dilated, 1u; Acne inversa, familial, 3 0 2 0 0 0 0 2
Alzheimer disease, type 4 2 0 0 0 0 0 2
Mental deterioration; Dementia 1 1 0 0 0 0 2
Acne inversa, familial, 3 1 0 0 0 0 0 1
Alzheimer disease familial 3, with spastic paraparesis 1 0 0 0 0 0 1
Alzheimer disease, type 3; Frontotemporal dementia 0 0 1 0 0 0 1
Alzheimer disease, type 3; Spastic paraparesis 1 0 0 0 0 0 1
Cardiomyopathy, dilated, 1u 1 0 0 0 0 0 1
Early onset Alzheimer disease with behavioral disturbance 0 1 0 0 0 0 1
Heart failure; Dilated cardiomyopathy 0 0 1 0 0 0 1
Pick's disease 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
VIB Department of Molecular Genetics, University of Antwerp 0 0 0 0 0 141 141
Illumina Clinical Services Laboratory,Illumina 0 0 56 19 0 0 75
Invitae 14 1 10 10 7 0 42
OMIM 39 0 0 0 0 0 39
Athena Diagnostics Inc 11 11 11 1 2 0 36
GeneReviews 14 0 0 0 0 0 14
Human Genetics Group at Institute of Prion Diseases London,University College London 1 7 0 0 0 0 8
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 3 0 2 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 2 0 0 0 4
PreventionGenetics,PreventionGenetics 0 0 0 1 2 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 0 1 0 3
GeneDx 0 2 0 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 2 0 0 0 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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
Codex Genetics Limited 1 1 0 0 0 0 2
Mendelics 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
Laboratorio de Biología Molecular,FLENI 0 1 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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