PSEN1 — 536 ClinVar variants
All ClinVar germline PSEN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 181 flagged for review →
77 Pathogenic · 20 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 51 Conflicting · 19 Benign · 23 Benign/Likely benign · 84 Likely benign · 211 Uncertain significance
Full PSEN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 181
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 13
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PSEN1 p.His163Arg
Pathogenic
Multiple submitters
frontotemporal dementia
-
PSEN1 p.Ile249Leu
Pathogenic/Likely pathogenic
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Met146Leu
Pathogenic
Multiple submitters
frontotemporal dementia
-
PSEN1 p.Thr119Ile
Likely pathogenic
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Ala137Thr
Likely pathogenic
Single submitter
frontotemporal dementia
-
PSEN1 p.His163Tyr
Pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ile143Val
Likely pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Leu282Ile
Likely pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Lys395Arg
Likely pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Thr122Ala
Likely pathogenic
Single submitter
frontotemporal dementia
-
PSEN1 p.Gly183Val
Pathogenic
No assertion criteria
Pick disease
-
PSEN1 p.Leu73Val
Likely pathogenic
No assertion criteria
Alzheimer disease 3
-
PSEN1 p.Lys80Gln
Pathogenic
No assertion criteria
Alzheimer disease 3
Predictors agree, ClinVar conflicts 22
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PSEN1 p.Ala260Gly
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ala360Thr
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ala409Thr
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ala431Val
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ala434Thr
Conflicting
Single submitter
Pick disease
-
PSEN1 p.Arg27His
Conflicting
Single submitter
Pick disease
-
PSEN1 p.Arg35Gln
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Arg54Gln
Conflicting
Single submitter
Inborn genetic diseases
-
PSEN1 p.Asn32Ser
Conflicting
Single submitter
frontotemporal dementia
-
PSEN1 p.Glu184Gly
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.His214Asn
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ile427Val
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ile437Val
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Leu134Arg
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Leu235Val
Conflicting
Single submitter
PSEN1-related disorder
-
PSEN1 p.Pro267Ala
Conflicting
Single submitter
frontotemporal dementia
-
PSEN1 p.Pro355Ser
Conflicting
Single submitter
Pick disease
-
PSEN1 p.Pro436Ala
Conflicting
Single submitter
acne inversa, familial, 3
-
PSEN1 p.Pro49Ala
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ser390Gly
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Tyr159His
Conflicting
Single submitter
frontotemporal dementia
-
PSEN1 p.Val261Ala
Conflicting
Single submitter
Alzheimer disease 3
Predictors lean, ClinVar uncertain 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PSEN1 p.Arg220Gln
Uncertain significance
Multiple submitters
PSEN1-related disorder
-
PSEN1 p.Arg27Cys
Uncertain significance
Multiple submitters
Pick disease
-
PSEN1 p.Arg41Ser
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Arg42Gln
Uncertain significance
Multiple submitters
Pick disease
-
PSEN1 p.Arg42Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSEN1 p.Ile133Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSEN1 p.Ile162Ser
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Ile227Leu
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Leu149Pro
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Lys395Ile
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Met16Arg
Uncertain significance
Multiple submitters
Pick disease
-
PSEN1 p.Met270Val
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Phe386Val
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Ala164Asp
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Ala275Pro Uncertain significance Single submitter
-
PSEN1 p.Ala342Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Ala461Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Ala79Thr
Uncertain significance
Single submitter
Pick disease
-
PSEN1 p.Arg108Gln
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Arg220Leu
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Arg41Gly Uncertain significance Single submitter
- PSEN1 p.Arg60Gln Uncertain significance Single submitter
-
PSEN1 p.Arg60Trp
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Asn279Ile
Uncertain significance
Single submitter
Pick disease
-
PSEN1 p.Asn312Lys
Uncertain significance
Single submitter
frontotemporal dementia
- PSEN1 p.Asn312Thr Uncertain significance Single submitter
-
PSEN1 p.Asp302Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Asp345Gly
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Asp40Asn Uncertain significance Single submitter
-
PSEN1 p.Glu184Lys
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Glu363Gln
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Glu363Lys
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Gly301Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Gly394Asp
Uncertain significance
Single submitter
Pick disease
-
PSEN1 p.Gly442Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Gly57Val
Uncertain significance
Single submitter
Pick disease
-
PSEN1 p.His351Tyr
Uncertain significance
Single submitter
Pick disease
- PSEN1 p.His46Tyr Uncertain significance Single submitter
-
PSEN1 p.Ile148Leu
Uncertain significance
Single submitter
Pick disease
-
PSEN1 p.Ile148Val
Uncertain significance
Single submitter
frontotemporal dementia
- PSEN1 p.Ile162Thr Uncertain significance Single submitter
- PSEN1 p.Ile211Thr Uncertain significance Single submitter
-
PSEN1 p.Ile408Thr
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Leu130Pro Uncertain significance Single submitter
- PSEN1 p.Leu381Ile Uncertain significance Single submitter
-
PSEN1 p.Leu383Trp
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Leu91Pro Uncertain significance Single submitter
- PSEN1 p.Lys239Glu Uncertain significance Single submitter
-
PSEN1 p.Phe118Val
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Phe176Ile Uncertain significance Single submitter
- PSEN1 p.Phe386Leu Uncertain significance Single submitter
- PSEN1 p.Phe388Ile Uncertain significance Single submitter
-
PSEN1 p.Phe388Ser
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Phe445Val Uncertain significance Single submitter
-
PSEN1 p.Pro242His
Uncertain significance
Single submitter
Pick disease
-
PSEN1 p.Pro303Ala
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Pro455Leu
Uncertain significance
Single submitter
PSEN1-related disorder
- PSEN1 p.Pro55Thr Uncertain significance Single submitter
-
PSEN1 p.Pro88Thr
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ser132Leu
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ser170Tyr
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ser178Pro
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Ser230Asn Uncertain significance Single submitter
- PSEN1 p.Ser289Phe Uncertain significance Single submitter
-
PSEN1 p.Thr25Ala
Uncertain significance
Single submitter
Pick disease
- PSEN1 p.Thr25Ser Uncertain significance Single submitter
-
PSEN1 p.Thr274Arg
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Thr354Ala
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Thr440Asn
Uncertain significance
Single submitter
Pick disease
- PSEN1 p.Trp215Arg Uncertain significance Single submitter
-
PSEN1 p.Tyr10Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Tyr315His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Val191Ile
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Val198Leu
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Val208Leu
Uncertain significance
Single submitter
frontotemporal dementia
- PSEN1 p.Val272Asp Uncertain significance Single submitter
-
PSEN1 p.Val361Leu
Uncertain significance
Single submitter
acne inversa, familial, 3
- PSEN1 p.Val453Ile Uncertain significance Single submitter
- PSEN1 p.Val82Glu Uncertain significance Single submitter
-
PSEN1 p.Arg35Trp
Uncertain significance
No assertion criteria
Alzheimer disease 3
-
PSEN1 p.Leu381His
Uncertain significance
No assertion criteria
PSEN1-related disorder
Predictors split 65
The independent predictors disagree with each other — read with care.
- PSEN1 p.Arg108Trp Uncertain significance Multiple submitters
-
PSEN1 p.Arg358Pro
Uncertain significance
Multiple submitters
Pick disease
-
PSEN1 p.Glu123Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PSEN1 p.Gly378Arg
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Ile416Thr
Pathogenic
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Met139Val
Pathogenic
Multiple submitters
acne inversa, familial, 3
-
PSEN1 p.Met233Val
Pathogenic/Likely pathogenic
Multiple submitters
frontotemporal dementia
- PSEN1 p.Phe175Leu Uncertain significance Multiple submitters
- PSEN1 p.Phe283Leu Pathogenic/Likely pathogenic Multiple submitters
-
PSEN1 p.Pro303Leu
Uncertain significance
Multiple submitters
Pick disease
-
PSEN1 p.Val161Ile
Uncertain significance
Multiple submitters
Alzheimer disease 3
-
PSEN1 p.Val412Ile
Uncertain significance
Multiple submitters
PSEN1-related disorder
-
PSEN1 p.Ala164Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PSEN1 p.Ala164Val Uncertain significance Single submitter
-
PSEN1 p.Ala231Ser
Uncertain significance
Single submitter
PSEN1-related disorder
-
PSEN1 p.Ala299Ser
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Arg157Ser
Uncertain significance
Single submitter
PSEN1-related disorder
-
PSEN1 p.Asn135Asp
Likely pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Asn190Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Asp333Gly
Conflicting
Single submitter
acne inversa, familial, 3
-
PSEN1 p.Gln112His
Likely pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Gln306His
Uncertain significance
Single submitter
frontotemporal dementia
-
PSEN1 p.Glu123Lys
Conflicting
Single submitter
Alzheimer disease 3
-
PSEN1 p.Glu339Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PSEN1 p.Gly183Arg
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Gly335Arg
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.His131Arg
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.His131Leu Uncertain significance Single submitter
-
PSEN1 p.His463Arg
Uncertain significance
Single submitter
Pick disease
- PSEN1 p.Ile100Leu Uncertain significance Single submitter
-
PSEN1 p.Ile227Val
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ile414Val
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Ile437Phe Uncertain significance Single submitter
-
PSEN1 p.Ile439Val
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Leu282Phe
Likely pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Lys187Thr
Uncertain significance
Single submitter
frontotemporal dementia
-
PSEN1 p.Lys311Arg
Conflicting
Single submitter
acne inversa, familial, 3
-
PSEN1 p.Met146Val
Pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Met270Thr
Uncertain significance
Single submitter
frontotemporal dementia
-
PSEN1 p.Met292Ile
Uncertain significance
Single submitter
acne inversa, familial, 3
- PSEN1 p.Met292Val Uncertain significance Single submitter
-
PSEN1 p.Met457Val
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Met84Ile
Likely pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Met84Val
Pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Phe105Ser
Likely pathogenic
Single submitter
Alzheimer disease
-
PSEN1 p.Phe386Ile
Likely pathogenic
Single submitter
PSEN1-related disorder
-
PSEN1 p.Phe86Leu
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Ser141Gly
Uncertain significance
Single submitter
Pick disease
- PSEN1 p.Ser141Ile Uncertain significance Single submitter
-
PSEN1 p.Ser319Cys
Uncertain significance
Single submitter
Pick disease
-
PSEN1 p.Thr124Ala
Uncertain significance
Single submitter
Pick disease
-
PSEN1 p.Thr281Met
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Thr291Ala
Uncertain significance
Single submitter
frontotemporal dementia
-
PSEN1 p.Thr291Pro
Likely pathogenic
Single submitter
Alzheimer disease 3
- PSEN1 p.Thr440Ala Uncertain significance Single submitter
-
PSEN1 p.Thr74Arg
Uncertain significance
Single submitter
Alzheimer disease 3
- PSEN1 p.Thr74Ile Uncertain significance Single submitter
-
PSEN1 p.Thr90Ser
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Tyr156His
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Tyr159Phe
Pathogenic
Single submitter
Alzheimer disease 3
-
PSEN1 p.Tyr189Cys
Likely benign
Single submitter
frontotemporal dementia
-
PSEN1 p.Tyr195Cys
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Val142Ile
Conflicting
Single submitter
frontotemporal dementia
-
PSEN1 p.Val94Met
Uncertain significance
Single submitter
Alzheimer disease 3
-
PSEN1 p.Met146Ile
Pathogenic
No assertion criteria
Alzheimer disease 3
All PSEN1 variants
Pathogenic 77
- p.Ala246Glu Multiple submitters frontotemporal dementia
- p.Ala285Val Multiple submitters Alzheimer disease 3
- p.Ala431Glu Multiple submitters acne inversa, familial, 3
- p.Ala79Val Multiple submitters frontotemporal dementia
- p.Arg269His Multiple submitters acne inversa, familial, 3
- p.Glu280Gly Multiple submitters acne inversa, familial, 3
- p.Gly206Ala Multiple submitters Autosomal dominant PSEN1-related disorders
- p.Gly206Asp Multiple submitters Alzheimer disease 3
- p.Gly206Val Multiple submitters PSEN1-related disorder
- p.Gly378Glu Multiple submitters Pick disease
- p.His163Arg Multiple submitters frontotemporal dementia ⚠
- p.Ile143Thr Multiple submitters Alzheimer disease 3
- p.Ile416Thr Multiple submitters Alzheimer disease 3 ⚠
- p.Leu271Val Multiple submitters acne inversa, familial, 3
- p.Leu286Val Multiple submitters early-onset autosomal dominant Alzheimer disease
- p.Leu392Val Multiple submitters Alzheimer disease 3
- p.Met139Thr Multiple submitters Alzheimer disease 3
- p.Met139Val Multiple submitters acne inversa, familial, 3 ⚠
- p.Met146Leu Multiple submitters frontotemporal dementia ⚠
- p.Phe177Ser Multiple submitters Alzheimer disease 3
- p.Thr116Asn Multiple submitters Alzheimer disease 3
- p.Val261Ile Multiple submitters frontotemporal dementia
- c.338+1del Single submitter Alzheimer disease 3
- c.869-2A>G Single submitter Alzheimer disease 3
- c.869-2A>T Single submitter Alzheimer disease 3
- p.Ala260Val Single submitter Alzheimer disease 3
- p.Ala434Cys Single submitter Alzheimer disease 3
- p.Arg278Ile Single submitter frontotemporal dementia
- p.Arg278Thr Single submitter congenital nervous system disorder
- p.Arg377Trp Single submitter Alzheimer disease 3
- p.Cys263Phe Single submitter Adult onset neurodegenerative disorder
- p.Cys410Tyr Single submitter frontotemporal dementia
- p.Gln223Lys Single submitter Pick disease
- p.Glu184Asp Single submitter Alzheimer disease 3
- p.Glu280Ala Single submitter frontotemporal dementia
- p.Glu280Lys Single submitter Alzheimer disease 3
- p.Gly209Arg Single submitter
- p.Gly209Glu Single submitter Alzheimer disease 3
- p.Gly209Val Single submitter Alzheimer disease 3
- p.Gly394Val Single submitter Alzheimer disease 3
- p.His163Tyr Single submitter Alzheimer disease 3 ⚠
- p.Leu166Pro Single submitter Alzheimer disease 3
- p.Leu171Pro Single submitter Alzheimer disease 3
- p.Leu174del Single submitter
- p.Leu250Phe Single submitter frontotemporal dementia
- p.Leu381Val Single submitter Alzheimer disease 3
- p.Leu392Pro Single submitter frontotemporal dementia
- p.Leu424Arg Single submitter Alzheimer disease 3
- p.Lys101Ter Single submitter Alzheimer disease 3
- p.Met146Val Single submitter Alzheimer disease 3 ⚠
- p.Met233Leu Single submitter
- p.Met84Val Single submitter Alzheimer disease 3 ⚠
- p.Phe105Cys Single submitter Mental deterioration
- p.Phe388Leu Single submitter Pick disease
- p.Pro117Ser Single submitter Alzheimer disease 3
- p.Pro88Arg Single submitter frontotemporal dementia
- p.Pro88Leu Single submitter
- p.Ser170Pro Single submitter
- p.Thr116Ile Single submitter Alzheimer disease 3
- p.Tyr159Phe Single submitter Alzheimer disease 3 ⚠
- p.Tyr256Asn Single submitter Alzheimer disease 3
- c.869-1624_956-2452del No assertion criteria Alzheimer disease 4
- c.869-1G>T No assertion criteria Alzheimer disease 3
- p.Cys92Ser No assertion criteria Alzheimer disease 3
- p.Glu120Asp No assertion criteria Alzheimer disease 3
- p.Gly183Val No assertion criteria Pick disease ⚠
- p.Gly384Ala No assertion criteria
- p.Leu174Met No assertion criteria Alzheimer disease 3
- p.Leu250Ser No assertion criteria Alzheimer disease 3
- p.Lys155_Tyr156insPheIle No assertion criteria Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
- p.Lys80Gln No assertion criteria Alzheimer disease 3 ⚠
- p.Met146Ile No assertion criteria Alzheimer disease 3 ⚠
- p.Pro242fs No assertion criteria acne inversa, familial, 3
- p.Pro436Gln No assertion criteria Alzheimer disease 3
- p.Ser170Phe No assertion criteria Alzheimer disease 3
- p.Thr440del No assertion criteria Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques
- p.Tyr154Cys No assertion criteria Alzheimer disease 3
Pathogenic/Likely pathogenic 20
- c.869-1G>A Multiple submitters frontotemporal dementia
- p.Ala426Pro Multiple submitters acne inversa, familial, 3
- p.Asn135Ser Multiple submitters Alzheimer disease 3
- p.Ile249Leu Multiple submitters Alzheimer disease 3 ⚠
- p.Leu219Pro Multiple submitters PSEN1-related disorder
- p.Leu262Phe Multiple submitters Alzheimer disease 3
- p.Leu262Val Multiple submitters Pick disease
- p.Leu282Pro Multiple submitters acne inversa, familial, 3
- p.Leu418Phe Multiple submitters Alzheimer disease 3
- p.Leu85Pro Multiple submitters frontotemporal dementia
- p.Met139Lys Multiple submitters Alzheimer disease 3
- p.Met233Thr Multiple submitters Alzheimer disease 3
- p.Met233Val Multiple submitters frontotemporal dementia ⚠
- p.Phe283Leu Multiple submitters ⚠
- p.Pro117Leu Multiple submitters Alzheimer disease 3
- p.Pro264Leu Multiple submitters Alzheimer disease 3
- p.Pro267Thr Multiple submitters Alzheimer disease 3
- p.Ser169Leu Multiple submitters Alzheimer disease 3
- p.Ser212Tyr Multiple submitters Alzheimer disease 3
- p.Tyr115Cys Multiple submitters Alzheimer disease 3
Likely pathogenic 51
- p.Ala231Thr Multiple submitters Alzheimer disease 3
- p.Gly217Arg Multiple submitters frontotemporal dementia
- p.Leu113Pro Multiple submitters frontotemporal dementia
- p.Leu381Phe Multiple submitters Alzheimer disease 3
- p.Leu424Val Multiple submitters PSEN1-related disorder
- p.Pro267Leu Multiple submitters Alzheimer disease 3
- p.Thr119Ile Multiple submitters Alzheimer disease 3 ⚠
- p.Ala137Thr Single submitter frontotemporal dementia ⚠
- p.Ala434Val Single submitter Alzheimer disease 3
- p.Arg278Gly Single submitter Alzheimer disease 3
- p.Asn135Asp Single submitter Alzheimer disease 3 ⚠
- p.Asn135Tyr Single submitter
- p.Gln112His Single submitter Alzheimer disease 3 ⚠
- p.Gln222Pro Single submitter Alzheimer disease
- p.Glu120Lys Single submitter
- p.Gly266Ser Single submitter Alzheimer disease 3
- p.Gly378Val Single submitter
- p.Ile143Val Single submitter Alzheimer disease 3 ⚠
- p.Ile168del Single submitter early-onset autosomal dominant Alzheimer disease
- p.Ile213Thr Single submitter Alzheimer disease 3
- p.Ile238Met Single submitter
- p.Ile249Phe Single submitter Pick disease
- p.Leu166Arg Single submitter PSEN1-related disorder
- p.Leu166Phe Single submitter
- p.Leu173Phe Single submitter
- p.Leu241Pro Single submitter Alzheimer disease 3
- p.Leu282Ile Single submitter Alzheimer disease 3 ⚠
- p.Leu282Phe Single submitter Alzheimer disease 3 ⚠
- p.Leu435Val Single submitter
- p.Lys395Arg Single submitter Alzheimer disease 3 ⚠
- p.Met146Thr Single submitter Alzheimer disease 3
- p.Met84Ile Single submitter Alzheimer disease 3 ⚠
- p.Phe105Ser Single submitter Alzheimer disease ⚠
- p.Phe237Leu Single submitter Visual hallucination
- p.Phe386Ile Single submitter PSEN1-related disorder ⚠
- p.Phe86Cys Single submitter Alzheimer disease 3
- p.Pro267Ser Single submitter Alzheimer disease 3
- p.Pro433Ser Single submitter Alzheimer disease
- p.Pro436Ser Single submitter
- p.Pro88His Single submitter Alzheimer disease 3
- p.Ser169Pro Single submitter
- p.Ser170_Leu171insTyr Single submitter Alzheimer disease
- p.Thr122Ala Single submitter frontotemporal dementia ⚠
- p.Thr291Pro Single submitter Alzheimer disease 3 ⚠
- p.Trp165Leu Single submitter
- p.Val103Asp Single submitter telangiectasia, hereditary hemorrhagic, type 1
- p.Val103Gly Single submitter Alzheimer disease 3
- p.Val393Phe Single submitter Alzheimer disease
- p.Ala234Val No assertion criteria Alzheimer disease 3
- p.Leu423Ser No assertion criteria Alzheimer disease 3
- p.Leu73Val No assertion criteria Alzheimer disease 3 ⚠
Conflicting classifications of pathogenicity 51
- c.338+7A>G Single submitter frontotemporal dementia
- c.-136+213G>A Single submitter Alzheimer disease 3
- c.*1381G>A Single submitter Alzheimer disease 3
- c.*1484A>C Single submitter dilated cardiomyopathy 1U
- c.*166T>A Single submitter Alzheimer disease 3
- c.*2017A>T Single submitter dilated cardiomyopathy 1U
- c.*2108G>A Single submitter dilated cardiomyopathy 1U
- c.*230G>T Single submitter Alzheimer disease 3
- c.*2529G>T Single submitter dilated cardiomyopathy 1U
- c.*2543C>T Single submitter dilated cardiomyopathy 1U
- c.*2580C>T Single submitter dilated cardiomyopathy 1U
- c.*3328C>G Single submitter dilated cardiomyopathy 1U
- c.*3495A>G Single submitter dilated cardiomyopathy 1U
- c.*3508G>A Single submitter dilated cardiomyopathy 1U
- c.*3941C>A Single submitter dilated cardiomyopathy 1U
- c.*4113G>A Single submitter dilated cardiomyopathy 1U
- c.*672G>A Single submitter dilated cardiomyopathy 1U
- p.Ala260Gly Single submitter Alzheimer disease 3 ⚠
- p.Ala360Thr Single submitter Alzheimer disease 3 ⚠
- p.Ala409Thr Single submitter Alzheimer disease 3 ⚠
- p.Ala431Val Single submitter Alzheimer disease 3 ⚠
- p.Ala434Thr Single submitter Pick disease ⚠
- p.Arg27His Single submitter Pick disease ⚠
- p.Arg35Gln Single submitter Alzheimer disease 3 ⚠
- p.Arg54Gln Single submitter Inborn genetic diseases ⚠
- p.Asn32Ser Single submitter frontotemporal dementia ⚠
- p.Asp333Gly Single submitter acne inversa, familial, 3 ⚠
- p.Asp40del Single submitter Alzheimer disease 3
- p.Gln459= Single submitter Pick disease
- p.Glu123Lys Single submitter Alzheimer disease 3 ⚠
- p.Glu184Gly Single submitter Alzheimer disease 3 ⚠
- p.Glu339= Single submitter frontotemporal dementia
- p.Gly334= Single submitter acne inversa, familial, 3
- p.His214Asn Single submitter Alzheimer disease 3 ⚠
- p.Ile427Val Single submitter Alzheimer disease 3 ⚠
- p.Ile437Val Single submitter Alzheimer disease 3 ⚠
- p.Leu113= Single submitter Pick disease
- p.Leu134Arg Single submitter Alzheimer disease 3 ⚠
- p.Leu235Val Single submitter PSEN1-related disorder ⚠
- p.Lys311Arg Single submitter acne inversa, familial, 3 ⚠
- p.Pro218= Single submitter acne inversa, familial, 3
- p.Pro267Ala Single submitter frontotemporal dementia ⚠
- p.Pro355Ser Single submitter Pick disease ⚠
- p.Pro436Ala Single submitter acne inversa, familial, 3 ⚠
- p.Pro49Ala Single submitter Alzheimer disease 3 ⚠
- p.Pro7= Single submitter acne inversa, familial, 3
- p.Ser170del Single submitter frontotemporal dementia
- p.Ser390Gly Single submitter Alzheimer disease 3 ⚠
- p.Tyr159His Single submitter frontotemporal dementia ⚠
- p.Val142Ile Single submitter frontotemporal dementia ⚠
- p.Val261Ala Single submitter Alzheimer disease 3 ⚠
Benign 19
- c.338+206T>C Multiple submitters
- c.480+223A>G Multiple submitters
- c.770-21T>C Multiple submitters
- c.869-263C>A Multiple submitters
- c.*1147C>T Multiple submitters Alzheimer disease 3
- c.*2864A>C Multiple submitters dilated cardiomyopathy 1U
- c.*3722C>T Multiple submitters dilated cardiomyopathy 1U
- c.*947G>A Multiple submitters Alzheimer disease 3
- c.1129+151T>C Single submitter
- c.1129+225A>G Single submitter
- c.1130-193G>T Single submitter
- c.549-4dup Single submitter Alzheimer disease 3
- c.87+252G>A Single submitter
- c.955+200T>C Single submitter
- c.956-264G>A Single submitter
- c.*1867ACAG[1] Single submitter
- p.His46= Single submitter Alzheimer disease 3
- p.Phe462= Single submitter Alzheimer disease 3
- p.Val261Gly Single submitter
Benign/Likely benign 23
- c.1248+8T>C Multiple submitters Alzheimer disease 3
- c.868+16G>T Multiple submitters Pick disease
- c.*313C>A Multiple submitters dilated cardiomyopathy 1U
- c.*3358A>G Multiple submitters dilated cardiomyopathy 1U
- c.*3566A>G Multiple submitters dilated cardiomyopathy 1U
- c.*3632G>A Multiple submitters dilated cardiomyopathy 1U
- c.*364T>C Multiple submitters Alzheimer disease 3
- c.*3889G>A Multiple submitters Alzheimer disease 3
- c.*4030A>G Multiple submitters dilated cardiomyopathy 1U
- p.Asn32= Multiple submitters Alzheimer disease 3
- p.Glu318Gly Multiple submitters dilated cardiomyopathy 1U
- p.Thr281= Multiple submitters Inborn genetic diseases
- c.*1690T>C Single submitter dilated cardiomyopathy 1U
- c.*1791A>T Single submitter Alzheimer disease 3
- c.*2430T>C Single submitter dilated cardiomyopathy 1U
- c.*3360A>G Single submitter dilated cardiomyopathy 1U
- c.*3525A>G Single submitter dilated cardiomyopathy 1U
- c.*3538C>G Single submitter dilated cardiomyopathy 1U
- c.*3637C>T Single submitter dilated cardiomyopathy 1U
- c.*3823G>A Single submitter Alzheimer disease 3
- c.*3831C>T Single submitter dilated cardiomyopathy 1U
- c.*4147T>G Single submitter dilated cardiomyopathy 1U
- c.*449T>C Single submitter dilated cardiomyopathy 1U
Likely benign 84
- c.1248+7A>G Multiple submitters
- c.480+144C>T Multiple submitters
- c.480+17G>A Multiple submitters Alzheimer disease 3
- c.481-13C>T Multiple submitters Alzheimer disease 3
- c.770-17T>C Multiple submitters Pick disease
- p.Ile437= Multiple submitters Alzheimer disease 3
- p.Leu424= Multiple submitters
- p.Phe179= Multiple submitters Alzheimer disease 3
- p.Ser365= Multiple submitters
- p.Ser59= Multiple submitters Alzheimer disease 3
- p.Thr122= Multiple submitters Alzheimer disease 3
- c.1129+113T>C Single submitter
- c.1129+9A>G Single submitter
- c.1130-10T>C Single submitter Pick disease
- c.1130-13del Single submitter Alzheimer disease 3
- c.1249-13A>G Single submitter
- c.1249-8C>G Single submitter
- c.338+22T>C Single submitter
- c.339-245A>G Single submitter
- c.480+14A>C Single submitter
- c.480+20C>T Single submitter Alzheimer disease 3
- c.480+29C>T Single submitter
- c.480+42C>T Single submitter
- c.481-4C>G Single submitter Pick disease
- c.548+13A>G Single submitter Alzheimer disease 3
- c.548+212A>T Single submitter
- c.549-19C>A Single submitter Alzheimer disease 3
- c.770-18A>G Single submitter
- c.868+16_868+21del Single submitter Alzheimer disease 3
- c.868+19T>C Single submitter
- c.87+11_87+14dup Single submitter Alzheimer disease 3
- c.88-10792G>A Single submitter
- c.88-7C>T Single submitter acne inversa, familial, 3
- c.955+11T>G Single submitter Alzheimer disease 3
- c.955+12_955+23del Single submitter
- c.955+16T>G Single submitter Alzheimer disease 3
- c.955+2400T>A Single submitter
- c.956-20A>C Single submitter Alzheimer disease 3
- c.956-217_956-216insA Single submitter
- c.-136+219G>C Single submitter
- c.-136+227T>G Single submitter
- p.Ala14= Single submitter
- p.Ala246= Single submitter Pick disease
- p.Arg352His Single submitter Alzheimer disease 3
- p.Asn331= Single submitter
- p.Asn39= Single submitter Pick disease
- p.Asp302= Single submitter Alzheimer disease 3
- p.Gln362= Single submitter acne inversa, familial, 3
- p.Glu71= Single submitter Alzheimer disease 3
- p.Gly266= Single submitter Alzheimer disease 3
- p.Gly301= Single submitter
- p.Gly335= Single submitter Alzheimer disease 3
- p.Gly78= Single submitter Pick disease
- p.His21= Single submitter
- p.His81= Single submitter Pick disease
- p.Ile167= Single submitter Alzheimer disease 3
- p.Leu153= Single submitter acne inversa, familial, 3
- p.Leu258= Single submitter Alzheimer disease 3
- p.Leu271= Single submitter Alzheimer disease 3
- p.Leu286= Single submitter
- p.Leu364= Single submitter
- p.Leu369= Single submitter frontotemporal dementia
- p.Leu85= Single submitter
- p.Lys80= Single submitter
- p.Phe237= Single submitter Alzheimer disease 3
- p.Phe411= Single submitter
- p.Pro264= Single submitter Alzheimer disease 3
- p.Pro267= Single submitter Alzheimer disease 3
- p.Pro303= Single submitter Alzheimer disease 3
- p.Pro88= Single submitter frontotemporal dementia
- p.Ser357= Single submitter Alzheimer disease 3
- p.Thr107= Single submitter
- p.Thr449= Single submitter Alzheimer disease 3
- p.Tyr106= Single submitter
- p.Tyr156= Single submitter Alzheimer disease 3
- p.Tyr189Cys Single submitter frontotemporal dementia ⚠
- p.Val142= Single submitter frontotemporal dementia
- p.Val145= Single submitter frontotemporal dementia
- p.Val151= Single submitter Pick disease
- p.Val185= Single submitter
- p.Val193= Single submitter
- c.956-10T>C No assertion criteria PSEN1-related disorder
- c.*10G>A No assertion criteria PSEN1-related disorder
- p.Leu75= No assertion criteria PSEN1-related disorder
Uncertain significance 211
- c.480+3G>A Multiple submitters Pick disease
- c.*1380C>T Multiple submitters Alzheimer disease 3
- c.*390T>G Multiple submitters dilated cardiomyopathy 1U
- p.Arg108Trp Multiple submitters ⚠
- p.Arg220Gln Multiple submitters PSEN1-related disorder ⚠
- p.Arg27Cys Multiple submitters Pick disease ⚠
- p.Arg358Pro Multiple submitters Pick disease ⚠
- p.Arg41Ser Multiple submitters Alzheimer disease 3 ⚠
- p.Arg42Gln Multiple submitters Pick disease ⚠
- p.Arg42Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu123Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly378Arg Multiple submitters Alzheimer disease 3 ⚠
- p.Ile133Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile162Ser Multiple submitters Alzheimer disease 3 ⚠
- p.Ile227Leu Multiple submitters Alzheimer disease 3 ⚠
- p.Leu149Pro Multiple submitters Alzheimer disease 3 ⚠
- p.Lys395Ile Multiple submitters Alzheimer disease 3 ⚠
- p.Met16Arg Multiple submitters Pick disease ⚠
- p.Met270Val Multiple submitters Alzheimer disease 3 ⚠
- p.Phe175Leu Multiple submitters ⚠
- p.Phe386Val Multiple submitters Alzheimer disease 3 ⚠
- p.Pro303Leu Multiple submitters Pick disease ⚠
- p.Val161Ile Multiple submitters Alzheimer disease 3 ⚠
- p.Val412Ile Multiple submitters PSEN1-related disorder ⚠
- c.1249-6C>A Single submitter Alzheimer disease 3
- c.480+6C>T Single submitter Pick disease
- c.770-1G>A Single submitter
- c.869-3C>A Single submitter frontotemporal dementia
- c.869-6C>T Single submitter
- c.87+6G>A Single submitter
- c.88-2A>G Single submitter
- c.-180C>T Single submitter dilated cardiomyopathy 1U
- c.-191C>T Single submitter dilated cardiomyopathy 1U
- c.-201A>C Single submitter dilated cardiomyopathy 1U
- c.*1145G>A Single submitter Alzheimer disease 3
- c.*119T>C Single submitter dilated cardiomyopathy 1U
- c.*1316G>T Single submitter Alzheimer disease 3
- c.*1360G>C Single submitter Alzheimer disease 3
- c.*1418G>A Single submitter Alzheimer disease 3
- c.*1585A>T Single submitter dilated cardiomyopathy 1U
- c.*1625A>G Single submitter dilated cardiomyopathy 1U
- c.*1626C>A Single submitter dilated cardiomyopathy 1U
- c.*1725A>G Single submitter Alzheimer disease 3
- c.*1792T>C Single submitter Alzheimer disease 3
- c.*1858T>A Single submitter dilated cardiomyopathy 1U
- c.*1874G>T Single submitter dilated cardiomyopathy 1U
- c.*1884G>T Single submitter dilated cardiomyopathy 1U
- c.*1889A>G Single submitter dilated cardiomyopathy 1U
- c.*1910A>G Single submitter dilated cardiomyopathy 1U
- c.*1958T>C Single submitter dilated cardiomyopathy 1U
- c.*1980C>T Single submitter dilated cardiomyopathy 1U
- c.*211G>A Single submitter dilated cardiomyopathy 1U
- c.*2160C>T Single submitter dilated cardiomyopathy 1U
- c.*2161G>A Single submitter dilated cardiomyopathy 1U
- c.*229C>T Single submitter dilated cardiomyopathy 1U
- c.*2325A>G Single submitter dilated cardiomyopathy 1U
- c.*2330G>T Single submitter dilated cardiomyopathy 1U
- c.*2357T>A Single submitter Alzheimer disease 3
- c.*23T>C Single submitter dilated cardiomyopathy 1U
- c.*2401C>T Single submitter dilated cardiomyopathy 1U
- c.*2604C>T Single submitter dilated cardiomyopathy 1U
- c.*2633G>A Single submitter dilated cardiomyopathy 1U
- c.*2659A>T Single submitter dilated cardiomyopathy 1U
- c.*265A>G Single submitter dilated cardiomyopathy 1U
- c.*2695G>A Single submitter dilated cardiomyopathy 1U
- c.*2758T>G Single submitter dilated cardiomyopathy 1U
- c.*2836C>T Single submitter dilated cardiomyopathy 1U
- c.*2846G>A Single submitter dilated cardiomyopathy 1U
- c.*2865C>A Single submitter dilated cardiomyopathy 1U
- c.*3130C>T Single submitter dilated cardiomyopathy 1U
- c.*3199C>T Single submitter dilated cardiomyopathy 1U
- c.*328C>T Single submitter dilated cardiomyopathy 1U
- c.*3321G>C Single submitter dilated cardiomyopathy 1U
- c.*3484A>C Single submitter dilated cardiomyopathy 1U
- c.*360A>C Single submitter Alzheimer disease 3
- c.*3619A>G Single submitter dilated cardiomyopathy 1U
- c.*3669G>A Single submitter Alzheimer disease 3
- c.*3789G>A Single submitter Alzheimer disease 3
- c.*3848G>C Single submitter Alzheimer disease 3
- c.*400G>A Single submitter dilated cardiomyopathy 1U
- c.*4078C>T Single submitter dilated cardiomyopathy 1U
- c.*4095A>G Single submitter dilated cardiomyopathy 1U
- c.*4338A>G Single submitter dilated cardiomyopathy 1U
- c.*4339T>C Single submitter dilated cardiomyopathy 1U
- c.*4367T>C Single submitter dilated cardiomyopathy 1U
- c.*438C>T Single submitter dilated cardiomyopathy 1U
- c.*562T>C Single submitter Alzheimer disease 3
- c.*595T>C Single submitter Alzheimer disease 3
- c.*657C>T Single submitter Alzheimer disease 3
- c.*71A>G Single submitter dilated cardiomyopathy 1U
- c.*768A>G Single submitter Alzheimer disease 3
- c.*801C>T Single submitter Alzheimer disease 3
- c.*807G>A Single submitter Alzheimer disease 3
- p.Ala164Asp Single submitter Alzheimer disease 3 ⚠
- p.Ala164Thr Single submitter Inborn genetic diseases ⚠
- p.Ala164Val Single submitter ⚠
- p.Ala231Ser Single submitter PSEN1-related disorder ⚠
- p.Ala275Pro Single submitter ⚠
- p.Ala299Ser Single submitter Alzheimer disease 3 ⚠
- p.Ala342Val Single submitter Inborn genetic diseases ⚠
- p.Ala461Ser Single submitter Inborn genetic diseases ⚠
- p.Ala79Thr Single submitter Pick disease ⚠
- p.Arg108Gln Single submitter Alzheimer disease 3 ⚠
- p.Arg157Ser Single submitter PSEN1-related disorder ⚠
- p.Arg220Leu Single submitter Alzheimer disease 3 ⚠
- p.Arg352dup Single submitter
- p.Arg41Gly Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg60Trp Single submitter Alzheimer disease 3 ⚠
- p.Asn190Asp Single submitter Inborn genetic diseases ⚠
- p.Asn279Ile Single submitter Pick disease ⚠
- p.Asn312Lys Single submitter frontotemporal dementia ⚠
- p.Asn312Thr Single submitter ⚠
- p.Asp302Asn Single submitter Inborn genetic diseases ⚠
- p.Asp345Gly Single submitter Alzheimer disease 3 ⚠
- p.Asp40Asn Single submitter ⚠
- p.Gln306His Single submitter frontotemporal dementia ⚠
- p.Gln56= Single submitter
- p.Glu184Lys Single submitter Alzheimer disease 3 ⚠
- p.Glu339Val Single submitter Inborn genetic diseases ⚠
- p.Glu363Gln Single submitter Alzheimer disease 3 ⚠
- p.Glu363Lys Single submitter Alzheimer disease 3 ⚠
- p.Gly183Arg Single submitter Alzheimer disease 3 ⚠
- p.Gly301Arg Single submitter Inborn genetic diseases ⚠
- p.Gly335Arg Single submitter Alzheimer disease 3 ⚠
- p.Gly394Asp Single submitter Pick disease ⚠
- p.Gly442Glu Single submitter Inborn genetic diseases ⚠
- p.Gly57Val Single submitter Pick disease ⚠
- p.His131Arg Single submitter Alzheimer disease 3 ⚠
- p.His131Leu Single submitter ⚠
- p.His351Tyr Single submitter Pick disease ⚠
- p.His463Arg Single submitter Pick disease ⚠
- p.His46Tyr Single submitter ⚠
- p.Ile100Leu Single submitter ⚠
- p.Ile143del Single submitter
- p.Ile148Leu Single submitter Pick disease ⚠
- p.Ile148Val Single submitter frontotemporal dementia ⚠
- p.Ile162Thr Single submitter ⚠
- p.Ile211Thr Single submitter ⚠
- p.Ile227Val Single submitter Alzheimer disease 3 ⚠
- p.Ile408Thr Single submitter Alzheimer disease 3 ⚠
- p.Ile414Val Single submitter Alzheimer disease 3 ⚠
- p.Ile437Phe Single submitter ⚠
- p.Ile439Val Single submitter Alzheimer disease 3 ⚠
- p.Leu130Pro Single submitter ⚠
- p.Leu262= Single submitter dilated cardiomyopathy 1U
- p.Leu381Ile Single submitter ⚠
- p.Leu383Trp Single submitter Alzheimer disease 3 ⚠
- p.Leu91Pro Single submitter ⚠
- p.Lys187Thr Single submitter frontotemporal dementia ⚠
- p.Lys239Glu Single submitter ⚠
- p.Met270_Leu271insMet Single submitter Alzheimer disease 3
- p.Met270Thr Single submitter frontotemporal dementia ⚠
- p.Met292Ile Single submitter acne inversa, familial, 3 ⚠
- p.Met292Val Single submitter ⚠
- p.Met457Val Single submitter Alzheimer disease 3 ⚠
- p.Phe118Val Single submitter Alzheimer disease 3 ⚠
- p.Phe176Ile Single submitter ⚠
- p.Phe386Leu Single submitter ⚠
- p.Phe388Ile Single submitter ⚠
- p.Phe388Ser Single submitter Alzheimer disease 3 ⚠
- p.Phe445Val Single submitter ⚠
- p.Phe86Leu Single submitter Alzheimer disease 3 ⚠
- p.Pro242His Single submitter Pick disease ⚠
- p.Pro303Ala Single submitter Alzheimer disease 3 ⚠
- p.Pro455Leu Single submitter PSEN1-related disorder ⚠
- p.Pro55Thr Single submitter ⚠
- p.Pro88Thr Single submitter Alzheimer disease 3 ⚠
- p.Ser132Leu Single submitter Alzheimer disease 3 ⚠
- p.Ser141Gly Single submitter Pick disease ⚠
- p.Ser141Ile Single submitter ⚠
- p.Ser170Tyr Single submitter Alzheimer disease 3 ⚠
- p.Ser178Pro Single submitter Alzheimer disease 3 ⚠
- p.Ser230Asn Single submitter ⚠
- p.Ser289Phe Single submitter ⚠
- p.Ser319Cys Single submitter Pick disease ⚠
- p.Ser365Phe Single submitter Alzheimer disease 3
- p.Thr124Ala Single submitter Pick disease ⚠
- p.Thr25Ala Single submitter Pick disease ⚠
- p.Thr25Ser Single submitter ⚠
- p.Thr274Arg Single submitter Alzheimer disease 3 ⚠
- p.Thr281Met Single submitter Alzheimer disease 3 ⚠
- p.Thr291Ala Single submitter frontotemporal dementia ⚠
- p.Thr354Ala Single submitter Alzheimer disease 3 ⚠
- p.Thr421= Single submitter
- p.Thr440Ala Single submitter ⚠
- p.Thr440Asn Single submitter Pick disease ⚠
- p.Thr74Arg Single submitter Alzheimer disease 3 ⚠
- p.Thr74Ile Single submitter ⚠
- p.Thr90Ser Single submitter Alzheimer disease 3 ⚠
- p.Trp215Arg Single submitter ⚠
- p.Tyr10Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr156His Single submitter Alzheimer disease 3 ⚠
- p.Tyr189fs Single submitter
- p.Tyr195Cys Single submitter Alzheimer disease 3 ⚠
- p.Tyr256= Single submitter Alzheimer disease 3
- p.Tyr315His Single submitter Inborn genetic diseases ⚠
- p.Tyr389= Single submitter dilated cardiomyopathy 1U
- p.Val103_Ser104delinsGly Single submitter Alzheimer disease 3
- p.Val125= Single submitter Alzheimer disease 3
- p.Val191Ile Single submitter Alzheimer disease 3 ⚠
- p.Val198Leu Single submitter Alzheimer disease 3 ⚠
- p.Val208Leu Single submitter frontotemporal dementia ⚠
- p.Val272Asp Single submitter ⚠
- p.Val361Leu Single submitter acne inversa, familial, 3 ⚠
- p.Val453Ile Single submitter ⚠
- p.Val82Glu Single submitter ⚠
- p.Val94Met Single submitter Alzheimer disease 3 ⚠
- p.Arg35Trp No assertion criteria Alzheimer disease 3 ⚠
- p.Leu381His No assertion criteria PSEN1-related disorder ⚠
- p.Leu420Val No assertion criteria Alzheimer disease 3