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
54 21 74 20 6 141 266

Condition and significance breakdown #

Total conditions: 20
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 9 11 9 0 2 141 156
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 34 2 1 0 0 0 37
Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 11 0 3 0 3 0 17
Alzheimer's 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
Cardiomyopathy, dilated, 1u 1 0 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: 18
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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
OMIM 39 0 0 0 0 0 39
Athena Diagnostics Inc 9 9 8 0 2 0 28
Invitae 11 0 3 0 3 0 17
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/Human Development Section,National Institutes of Health 0 0 3 0 2 0 5
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 0 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 1 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 1 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

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