APP — 605 ClinVar variants
All ClinVar germline APP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 234 flagged for review →
17 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 32 Conflicting · 69 Benign · 20 Benign/Likely benign · 190 Likely benign · 267 Uncertain significance
Full APP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 234
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 9
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
APP p.Asp694Asn
Pathogenic
Multiple submitters
cerebral amyloid angiopathy, APP-related
-
APP p.Glu693Gln
Pathogenic
Multiple submitters
cerebral amyloid angiopathy, APP-related
-
APP p.Thr714Ala
Pathogenic
Multiple submitters
Alzheimer disease type 1
-
APP p.Val717Ile
Pathogenic
Multiple submitters
Alzheimer disease type 1
- APP p.Asp678His Likely pathogenic Single submitter
- APP p.Ile716Met Likely pathogenic Single submitter
-
APP p.Lys687Gln
Likely pathogenic
Single submitter
cerebral amyloid angiopathy, APP-related
-
APP p.Ala673Val
Pathogenic
No assertion criteria
Alzheimer disease
-
APP p.Ala692Gly
Pathogenic
No assertion criteria
ABetaA21G amyloidosis
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
APP p.Ala201Val
Conflicting
Single submitter
Alzheimer disease
-
APP p.Ala235Val
Conflicting
Single submitter
Alzheimer disease
-
APP p.Arg306His
Conflicting
Single submitter
Inborn genetic diseases
-
APP p.Arg527Gln
Conflicting
Single submitter
Alzheimer disease type 1
-
APP p.Asp243Asn
Conflicting
Single submitter
Alzheimer disease
-
APP p.Asp248Asn
Conflicting
Single submitter
Alzheimer disease
-
APP p.Gln347Arg
Conflicting
Single submitter
Inborn genetic diseases
-
APP p.Glu160Lys
Conflicting
Single submitter
Alzheimer disease
-
APP p.Glu404Gln
Conflicting
Single submitter
Inborn genetic diseases
-
APP p.Glu605Asp
Conflicting
Single submitter
Alzheimer disease
-
APP p.Glu674Gln
Conflicting
Single submitter
Alzheimer disease type 1
-
APP p.Met170Ile
Conflicting
Single submitter
Inborn genetic diseases
-
APP p.Ser198Pro
Conflicting
Single submitter
Alzheimer disease
-
APP p.Val604Met
Conflicting
Single submitter
Alzheimer disease
Predictors lean, ClinVar uncertain 125
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
APP p.Arg116His
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Arg16Gln
Uncertain significance
Multiple submitters
Alzheimer disease type 1
-
APP p.Arg16Trp
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Arg469His
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Arg486Gln
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Arg540His
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Asn195Ser
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Asn660Tyr
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Asp560Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
APP p.Asp560Glu
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Gln95Glu
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Glu192Lys
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Glu334Gln
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Glu665Asp
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Gly326Ser
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Leu364Phe
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Leu5Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
APP p.Met338Val
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Met345Ile
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Pro261Ser
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Ser346Tyr
Uncertain significance
Multiple submitters
Alzheimer disease type 1
-
APP p.Thr274Ala
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Val225Ala
Uncertain significance
Multiple submitters
cerebral amyloid angiopathy, APP-related
-
APP p.Val576Ile
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Val738Ile
Uncertain significance
Multiple submitters
Alzheimer disease type 1
-
APP p.Val742Ile
Uncertain significance
Multiple submitters
Alzheimer disease
- APP p.Ala242Thr Uncertain significance Single submitter
- APP p.Ala265Val Uncertain significance Single submitter
-
APP p.Ala344Thr
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Ala344Val Uncertain significance Single submitter
-
APP p.Ala358Pro
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ala358Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Ala400Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ala430Thr
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ala524Gly
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ala524Thr
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ala553Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg16Pro
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg268Lys
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg268Thr
Uncertain significance
Single submitter
APP-related disorder
-
APP p.Arg301Gly
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg359Gln
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Arg359Pro Uncertain significance Single submitter
- APP p.Arg397Gly Uncertain significance Single submitter
-
APP p.Arg397Lys
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg469Cys
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg488His
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg535His
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg643Cys
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg643His
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg747Cys
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Asn164Ser Uncertain significance Single submitter
-
APP p.Asn195Asp
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Asn422His
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Asn448Ser
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Asn492Ser
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Asn550Ser
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Asn610His
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Asn660Ser
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Asp244Glu
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Asp245Tyr Uncertain significance Single submitter
-
APP p.Asp467Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Asp616Asn
Uncertain significance
Single submitter
Alzheimer disease type 1
-
APP p.Cys341Gly
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Cys62Tyr Uncertain significance Single submitter
-
APP p.Gln294Arg
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Glu227Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Glu255Gly
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Glu263Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Glu417Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- APP p.Glu437Asp Uncertain significance Single submitter
-
APP p.Glu449Lys
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Glu605Gln
Uncertain significance
Single submitter
APP-related disorder
-
APP p.Glu664Ala
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Glu67Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Gly251Ser
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Gly251Val
Uncertain significance
Single submitter
cerebral amyloid angiopathy, APP-related
-
APP p.Gly298Arg
Uncertain significance
Single submitter
cerebral amyloid angiopathy, APP-related
-
APP p.Gly657Ala
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Gly696Ser
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Gly756Asp
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.His457Tyr
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ile63Val
Uncertain significance
Single submitter
APP-related disorder
-
APP p.Ile661Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Ile69Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ile702Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Leu189Met
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Leu357Val Uncertain significance Single submitter
-
APP p.Leu565Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Leu597Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Leu5Phe
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Leu688Val Uncertain significance Single submitter
-
APP p.Lys178Arg
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Lys724Arg
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Met517Leu Uncertain significance Single submitter
- APP p.Met580Val Uncertain significance Single submitter
- APP p.Met671Leu Uncertain significance Single submitter
-
APP p.Met671Thr
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Phe179Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Phe764Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Pro356Ala
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Pro372Leu
Uncertain significance
Single submitter
Alzheimer disease type 1
-
APP p.Pro584Ala
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ser206Leu
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ser346Phe
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ser750Cys
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Thr297Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- APP p.Thr353Ile Uncertain significance Single submitter
-
APP p.Thr602Ser
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Thr663Met
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Thr761Ala
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Tyr538His
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Tyr549Cys
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Tyr762Phe
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Val153Ile
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Val226Glu
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Val375Ile
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Val562Ile
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Val629Ala Uncertain significance Single submitter
- APP p.Val669Met Uncertain significance Single submitter
-
APP p.Val683Ile
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ala479Ser
Uncertain significance
No assertion criteria
APP-related disorder
-
APP p.Arg397Thr
Uncertain significance
No assertion criteria
APP-related disorder
-
APP p.Met43Val
Uncertain significance
No assertion criteria
Alzheimer disease type 1
-
APP p.Ser343Asn
Uncertain significance
No assertion criteria
Alzheimer disease type 1
Predictors split 86
The independent predictors disagree with each other — read with care.
-
APP p.Ala500Thr
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Ala713Thr
Likely pathogenic
Multiple submitters
Primary degenerative dementia of the Alzheimer type, presenile onset
-
APP p.Arg585Lys
Uncertain significance
Multiple submitters
cerebral amyloid angiopathy, APP-related
-
APP p.Arg747His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
APP p.Glu145Lys
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Glu599Lys
Benign/Likely benign
Multiple submitters
Alzheimer disease
-
APP p.Ile666Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
APP p.Ile716Phe
Pathogenic
Multiple submitters
Alzheimer disease
-
APP p.Lys510Asn
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Lys751Asn
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Pro639His
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Ser573Pro
Uncertain significance
Multiple submitters
Alzheimer disease
-
APP p.Val715Met
Pathogenic/Likely pathogenic
Multiple submitters
Alzheimer disease type 1
-
APP p.Val717Phe
Pathogenic
Multiple submitters
Alzheimer disease type 1
-
APP p.Ala416Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Ala555Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ala592Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ala713Val
Conflicting
Single submitter
Alzheimer disease
-
APP p.Arg100Trp
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg102His
Likely benign
Single submitter
Alzheimer disease
-
APP p.Arg140Thr
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg180Gln
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg328Trp
Conflicting
Single submitter
Alzheimer disease
- APP p.Arg418Pro Uncertain significance Single submitter
-
APP p.Arg468His
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Arg470His
Uncertain significance
Single submitter
cerebral amyloid angiopathy, APP-related
-
APP p.Asn164Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Asn466Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Asn89Ser
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Asp384Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Gln436His
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Gln559His
Likely benign
Single submitter
Alzheimer disease
- APP p.Gln81His Uncertain significance Single submitter
-
APP p.Glu246Lys
Conflicting
Single submitter
Alzheimer disease
-
APP p.Glu31Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- APP p.Glu380Lys Uncertain significance Single submitter
-
APP p.Glu583Gly
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Glu605Gly
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Glu636Lys
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Glu638Asp
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Glu693Lys
Pathogenic
Single submitter
Alzheimer disease
- APP p.Glu758Asp Uncertain significance Single submitter
-
APP p.Gly101Asp
Likely benign
Single submitter
Alzheimer disease
-
APP p.Gly325Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Gly383Glu
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Gly657Arg
Conflicting
Single submitter
Alzheimer disease
- APP p.Gly657Glu Uncertain significance Single submitter
-
APP p.Gly68Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Gly709Ser
Conflicting
Single submitter
cerebral amyloid angiopathy
-
APP p.His149Arg
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.His166Asp
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.His166Tyr
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.His44Tyr
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.His677Arg
Conflicting
Single submitter
APP-related disorder
-
APP p.Ile702Met
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Ile716Thr
Pathogenic
Single submitter
Alzheimer disease
-
APP p.Leu41Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Leu548Val
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Leu597Trp
Likely benign
Single submitter
Alzheimer disease
-
APP p.Leu705Val
Likely pathogenic
Single submitter
cerebral amyloid angiopathy, APP-related
- APP p.Lys155Arg Uncertain significance Single submitter
-
APP p.Lys178Asn
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Lys401Asn
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Lys670Asn Uncertain significance Single submitter
-
APP p.Lys687Asn
Likely pathogenic
Single submitter
Alzheimer disease type 1
-
APP p.Lys725Asn
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Met493Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Pro188Leu
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Pro485Leu
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Pro620Leu Uncertain significance Single submitter
- APP p.Pro91Gln Uncertain significance Single submitter
- APP p.Thr152Ile Uncertain significance Single submitter
-
APP p.Thr270Ile
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Thr276Ala
Uncertain significance
Single submitter
APP-related disorder
-
APP p.Thr456Ala
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Thr59Ile
Uncertain significance
Single submitter
Alzheimer disease
-
APP p.Thr600Met
Conflicting
Single submitter
Alzheimer disease
-
APP p.Thr714Ile
Pathogenic
Single submitter
Alzheimer disease
-
APP p.Val340Leu
Uncertain significance
Single submitter
Alzheimer disease
- APP p.Val340Met Uncertain significance Single submitter
-
APP p.Val695Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
APP p.Val717Gly
Pathogenic
Single submitter
Alzheimer disease type 1
-
APP p.Val717Leu
Pathogenic
Single submitter
Alzheimer disease type 1
-
APP p.Gln138Arg
Uncertain significance
No assertion criteria
APP-related disorder
-
APP p.Glu693Gly
Pathogenic
No assertion criteria
ABeta amyloidosis, Arctic type
-
APP p.Val715Ala
Pathogenic
No assertion criteria
APP-related disorder
All APP variants
Pathogenic 17
- p.Asp694Asn Multiple submitters cerebral amyloid angiopathy, APP-related ⚠
- p.Glu693Gln Multiple submitters cerebral amyloid angiopathy, APP-related ⚠
- p.Ile716Phe Multiple submitters Alzheimer disease ⚠
- p.Ile716Val Multiple submitters Alzheimer disease
- p.Lys670_Met671delinsAsnLeu Multiple submitters APP-related disorder
- p.Thr714Ala Multiple submitters Alzheimer disease type 1 ⚠
- p.Val717Ile Multiple submitters Alzheimer disease type 1 ⚠
- p.Val717Phe Multiple submitters Alzheimer disease type 1 ⚠
- p.Glu693Lys Single submitter Alzheimer disease ⚠
- p.Ile716Thr Single submitter Alzheimer disease ⚠
- p.Thr714Ile Single submitter Alzheimer disease ⚠
- p.Val717Gly Single submitter Alzheimer disease type 1 ⚠
- p.Val717Leu Single submitter Alzheimer disease type 1 ⚠
- p.Ala673Val No assertion criteria Alzheimer disease ⚠
- p.Ala692Gly No assertion criteria ABetaA21G amyloidosis ⚠
- p.Glu693Gly No assertion criteria ABeta amyloidosis, Arctic type ⚠
- p.Val715Ala No assertion criteria APP-related disorder ⚠
Pathogenic/Likely pathogenic 1
- p.Val715Met Multiple submitters Alzheimer disease type 1 ⚠
Likely pathogenic 9
- p.Ala713Thr Multiple submitters Primary degenerative dementia of the Alzheimer type, presenile onset ⚠
- p.Ala713Glu Single submitter Alzheimer disease
- p.Asp678His Single submitter ⚠
- p.Ile716Met Single submitter ⚠
- p.Leu705Val Single submitter cerebral amyloid angiopathy, APP-related ⚠
- p.Leu723Pro Single submitter APP-related disorder
- p.Lys687Asn Single submitter Alzheimer disease type 1 ⚠
- p.Lys687Gln Single submitter cerebral amyloid angiopathy, APP-related ⚠
- p.Thr719Pro Single submitter Alzheimer disease type 1
Conflicting classifications of pathogenicity 32
- c.1224+12T>C Single submitter Alzheimer disease
- c.1458+10G>A Single submitter Alzheimer disease
- c.1458+9C>T Single submitter Alzheimer disease
- c.2212-9_2212-6del Single submitter Alzheimer disease
- c.663-9C>A Single submitter Alzheimer disease
- p.Ala201Val Single submitter Alzheimer disease ⚠
- p.Ala235Val Single submitter Alzheimer disease ⚠
- p.Ala295= Single submitter Alzheimer disease
- p.Ala713Val Single submitter Alzheimer disease ⚠
- p.Arg306His Single submitter Inborn genetic diseases ⚠
- p.Arg328Trp Single submitter Alzheimer disease ⚠
- p.Arg527Gln Single submitter Alzheimer disease type 1 ⚠
- p.Asp243Asn Single submitter Alzheimer disease ⚠
- p.Asp248Asn Single submitter Alzheimer disease ⚠
- p.Asp563= Single submitter Alzheimer disease
- p.Gln347Arg Single submitter Inborn genetic diseases ⚠
- p.Glu160Lys Single submitter Alzheimer disease ⚠
- p.Glu246Lys Single submitter Alzheimer disease ⚠
- p.Glu404Gln Single submitter Inborn genetic diseases ⚠
- p.Glu605Asp Single submitter Alzheimer disease ⚠
- p.Glu674Gln Single submitter Alzheimer disease type 1 ⚠
- p.Gly657Arg Single submitter Alzheimer disease ⚠
- p.Gly709Ser Single submitter cerebral amyloid angiopathy ⚠
- p.His677Arg Single submitter APP-related disorder ⚠
- p.Met170Ile Single submitter Inborn genetic diseases ⚠
- p.Pro484Ser Single submitter cerebral amyloid angiopathy, APP-related
- p.Pro584Arg Single submitter Alzheimer disease
- p.Ser198Pro Single submitter Alzheimer disease ⚠
- p.Ser206= Single submitter Alzheimer disease
- p.Thr280dup Single submitter APP-related disorder
- p.Thr600Met Single submitter Alzheimer disease ⚠
- p.Val604Met Single submitter Alzheimer disease ⚠
Benign 69
- c.1090+194= Multiple submitters
- c.1090+266A>G Multiple submitters
- c.1224+20C>T Multiple submitters Alzheimer disease
- c.1225-106T>C Multiple submitters
- c.1225-31T>C Multiple submitters
- c.1299+9T>C Multiple submitters Alzheimer disease
- c.1458+19G>A Multiple submitters Alzheimer disease
- c.1459-166A>G Multiple submitters
- c.1587+23T>C Multiple submitters
- c.1587+79C>G Multiple submitters
- c.1588-97C>T Multiple submitters
- c.1687+45C>T Multiple submitters
- c.1687+94A>T Multiple submitters
- c.1688-119C>T Multiple submitters
- c.1964-264A>G Multiple submitters
- c.2212-10T>C Multiple submitters Alzheimer disease
- c.2212-11_2212-10del Multiple submitters Alzheimer disease
- c.2212-112G>A Multiple submitters
- c.2212-136G>A Multiple submitters
- c.2212-197G>C Multiple submitters
- c.2212-216C>T Multiple submitters
- c.2212-238G>T Multiple submitters
- c.355+196C>T Multiple submitters
- c.356-195C>G Multiple submitters
- c.468+51C>T Multiple submitters
- c.469-52C>A Multiple submitters
- c.58-28119G>C Multiple submitters
- c.866-196C>G Multiple submitters
- c.-111G>C Multiple submitters Alzheimer disease
- c.*913C>G Multiple submitters Alzheimer disease
- p.Ile716= Multiple submitters Alzheimer disease
- p.Thr276Ser Multiple submitters Alzheimer disease
- p.Tyr538= Multiple submitters Alzheimer disease
- c.1091-227A>G Single submitter
- c.1225-119A>C Single submitter
- c.1225-11T>A Single submitter Alzheimer disease
- c.1225-263G>A Single submitter
- c.1588-167del Single submitter
- c.1588-184del Single submitter
- c.1588-245del Single submitter
- c.1588-269del Single submitter
- c.1588-275C>T Single submitter
- c.1588-83dup Single submitter
- c.1687+148A>T Single submitter
- c.1687+263G>A Single submitter
- c.1910-160T>A Single submitter
- c.1910-217G>A Single submitter
- c.2065-179del Single submitter
- c.2065-180_2065-179del Single submitter
- c.355+16G>A Single submitter Alzheimer disease
- c.468+229G>A Single submitter
- c.469-200_469-199insTT Single submitter
- c.469-38T>A Single submitter
- c.58-27773GTTT[8] Single submitter
- c.58-27773GTTT[9] Single submitter
- c.58-27857A>G Single submitter
- c.58-27859T>C Single submitter
- c.58-27864T>C Single submitter
- c.662+185G>A Single submitter
- c.663-110T>C Single submitter
- c.865+126G>T Single submitter
- c.-49+60del Single submitter
- c.*724C>T Single submitter Alzheimer disease
- c.*914G>A Single submitter Alzheimer disease
- c.*967G>A Single submitter Alzheimer disease
- p.Asp194Gly Single submitter Alzheimer disease
- p.Asp616= Single submitter Alzheimer disease
- p.Gly611= Single submitter Alzheimer disease
- p.Thr297Met Single submitter Alzheimer disease
Benign/Likely benign 20
- c.1224+16C>A Multiple submitters Alzheimer disease
- c.1458+18C>T Multiple submitters cerebral amyloid angiopathy, APP-related
- c.225+14G>A Multiple submitters Alzheimer disease
- c.225+7C>A Multiple submitters Alzheimer disease
- c.355+9G>A Multiple submitters Alzheimer disease
- c.663-7T>C Multiple submitters Alzheimer disease
- c.865+11A>G Multiple submitters Alzheimer disease
- p.Ala673Thr Multiple submitters Alzheimer disease
- p.Asn590= Multiple submitters Alzheimer disease
- p.Asp247= Multiple submitters Alzheimer disease
- p.Asp739= Multiple submitters Alzheimer disease
- p.Glu599Lys Multiple submitters Alzheimer disease ⚠
- p.Gly708= Multiple submitters cerebral amyloid angiopathy, APP-related
- p.Phe435= Multiple submitters Alzheimer disease
- p.Ser614Gly Multiple submitters cerebral amyloid angiopathy, APP-related
- p.Thr14= Multiple submitters
- p.Thr603= Multiple submitters Alzheimer disease
- p.Tyr262= Multiple submitters Alzheimer disease
- p.Val711= Multiple submitters Alzheimer disease
- p.Val76Ile Multiple submitters Alzheimer disease
Likely benign 190
- c.1034-107G>A Multiple submitters
- c.1224+13C>G Multiple submitters Alzheimer disease
- c.1587+14A>G Multiple submitters Alzheimer disease
- c.1587+7G>A Multiple submitters Alzheimer disease
- c.1688-4T>G Multiple submitters Alzheimer disease
- c.1910-7T>C Multiple submitters Alzheimer disease
- c.1963+11C>T Multiple submitters Alzheimer disease
- c.1963+96A>T Multiple submitters
- c.2212-58T>G Multiple submitters
- c.225+19C>G Multiple submitters Alzheimer disease
- c.355+11C>T Multiple submitters Alzheimer disease
- c.57+14C>T Multiple submitters Alzheimer disease
- c.57+16C>T Multiple submitters Alzheimer disease
- c.58-86T>G Multiple submitters
- c.663-238A>G Multiple submitters
- c.866-16C>A Multiple submitters Alzheimer disease
- c.-156G>C Multiple submitters
- c.*624A>G Multiple submitters Alzheimer disease
- p.Ala126= Multiple submitters Alzheimer disease
- p.Ala154= Multiple submitters Alzheimer disease
- p.Ala339= Multiple submitters Alzheimer disease
- p.Ala374= Multiple submitters Alzheimer disease
- p.Ala416= Multiple submitters Alzheimer disease
- p.Ala472= Multiple submitters Alzheimer disease
- p.Ala555= Multiple submitters Alzheimer disease
- p.Ala713= Multiple submitters Alzheimer disease
- p.Arg397= Multiple submitters Alzheimer disease
- p.Arg450= Multiple submitters Alzheimer disease
- p.Asn550= Multiple submitters Alzheimer disease
- p.Asp574= Multiple submitters Alzheimer disease
- p.Cys62= Multiple submitters Alzheimer disease
- p.Glu281= Multiple submitters Alzheimer disease
- p.Glu668= Multiple submitters Alzheimer disease
- p.Gly322= Multiple submitters Alzheimer disease
- p.Gly342= Multiple submitters Alzheimer disease
- p.His151= Multiple submitters Alzheimer disease
- p.Lys134= Multiple submitters
- p.Thr152= Multiple submitters Alzheimer disease
- p.Thr598= Multiple submitters Alzheimer disease
- p.Thr600= Multiple submitters Alzheimer disease
- p.Val254= Multiple submitters Alzheimer disease
- c.1033+19G>A Single submitter Alzheimer disease
- c.1034-4A>G Single submitter Alzheimer disease
- c.1091-10T>C Single submitter
- c.1091-18T>G Single submitter Alzheimer disease
- c.1091-20_1091-18del Single submitter Alzheimer disease
- c.1091-5dup Single submitter Alzheimer disease
- c.1224+54G>T Single submitter
- c.1225-45G>T Single submitter
- c.1299+229C>T Single submitter
- c.1300-17T>C Single submitter
- c.1458+11C>A Single submitter Alzheimer disease
- c.1459-15A>T Single submitter Alzheimer disease
- c.1587+26T>G Single submitter
- c.1687+19869T>C Single submitter
- c.1687+19T>C Single submitter Alzheimer disease
- c.1687+244A>C Single submitter
- c.1909+18C>A Single submitter Alzheimer disease
- c.1909+9C>T Single submitter Alzheimer disease
- c.1910-18C>T Single submitter Alzheimer disease
- c.1910-198G>C Single submitter
- c.1963+18C>T Single submitter Alzheimer disease
- c.2064+11T>C Single submitter Alzheimer disease
- c.2065-14_2065-12del Single submitter Alzheimer disease
- c.2065-15T>C Single submitter Alzheimer disease
- c.2065-17_2065-15del Single submitter Alzheimer disease
- c.2065-20_2065-15del Single submitter
- c.2065-4C>T Single submitter Alzheimer disease
- c.2211+11T>C Single submitter Alzheimer disease
- c.2212-12_2212-10del Single submitter Alzheimer disease
- c.2212-15C>T Single submitter Alzheimer disease
- c.2212-7T>G Single submitter
- c.225+13C>T Single submitter Alzheimer disease
- c.226-6T>C Single submitter Alzheimer disease
- c.226-8T>C Single submitter Alzheimer disease
- c.355+12G>A Single submitter Alzheimer disease
- c.355+16G>C Single submitter Alzheimer disease
- c.355+8G>A Single submitter Alzheimer disease
- c.356-18G>A Single submitter
- c.356-19T>G Single submitter
- c.468+16T>C Single submitter Alzheimer disease
- c.469-4G>A Single submitter Alzheimer disease
- c.469-5T>C Single submitter Alzheimer disease
- c.57+15T>C Single submitter Alzheimer disease
- c.58-11T>G Single submitter Alzheimer disease
- c.663-10G>A Single submitter Alzheimer disease
- c.865+10C>G Single submitter Alzheimer disease
- c.865+9C>T Single submitter
- c.866-10_866-8del Single submitter Alzheimer disease
- c.866-19C>T Single submitter Alzheimer disease
- c.866-9T>C Single submitter
- c.-44C>T Single submitter Alzheimer disease
- c.-49+165G>A Single submitter
- c.*372A>G Single submitter Alzheimer disease
- c.*590C>A Single submitter Alzheimer disease
- c.*663C>T Single submitter Alzheimer disease
- c.*738T>C Single submitter Alzheimer disease
- p.Ala11= Single submitter Alzheimer disease
- p.Ala15= Single submitter
- p.Ala15Val Single submitter Alzheimer disease
- p.Ala35= Single submitter Alzheimer disease
- p.Ala523= Single submitter Alzheimer disease
- p.Ala6= Single submitter Alzheimer disease
- p.Ala642= Single submitter Alzheimer disease
- p.Ala673= Single submitter Alzheimer disease
- p.Ala740= Single submitter
- p.Arg102His Single submitter Alzheimer disease ⚠
- p.Arg16= Single submitter
- p.Arg328Gln Single submitter Alzheimer disease
- p.Arg468Cys Single submitter Alzheimer disease
- p.Arg643= Single submitter Alzheimer disease
- p.Arg747= Single submitter Alzheimer disease
- p.Asn632= Single submitter Alzheimer disease
- p.Asn635= Single submitter Alzheimer disease
- p.Asn660= Single submitter Alzheimer disease
- p.Asn755= Single submitter Alzheimer disease
- p.Asp207= Single submitter Alzheimer disease
- p.Asp245= Single submitter Alzheimer disease
- p.Asp248Gly Single submitter Alzheimer disease
- p.Asp504= Single submitter Alzheimer disease
- p.Asp575= Single submitter Alzheimer disease
- p.Asp617Asn Single submitter Alzheimer disease
- p.Cys117= Single submitter Alzheimer disease
- p.Cys144= Single submitter Alzheimer disease
- p.Gln104= Single submitter Alzheimer disease
- p.Gln354Arg Single submitter Inborn genetic diseases
- p.Gln559His Single submitter Alzheimer disease ⚠
- p.Gln754= Single submitter
- p.Glu139= Single submitter Alzheimer disease
- p.Glu293= Single submitter Alzheimer disease
- p.Glu605= Single submitter Alzheimer disease
- p.Glu674= Single submitter Alzheimer disease
- p.Glu682= Single submitter Alzheimer disease
- p.Glu693= Single submitter Alzheimer disease
- p.Gly101Asp Single submitter Alzheimer disease ⚠
- p.Gly298= Single submitter Alzheimer disease
- p.Gly322Ser Single submitter Alzheimer disease
- p.Gly323= Single submitter
- p.Gly325= Single submitter Alzheimer disease
- p.Gly342Ser Single submitter Alzheimer disease
- p.His110= Single submitter
- p.His388= Single submitter Alzheimer disease
- p.His489= Single submitter Alzheimer disease
- p.Ile34= Single submitter Alzheimer disease
- p.Ile666= Single submitter
- p.Leu189= Single submitter Alzheimer disease
- p.Leu379= Single submitter Alzheimer disease
- p.Leu453= Single submitter Alzheimer disease
- p.Leu548= Single submitter
- p.Leu597Trp Single submitter Alzheimer disease ⚠
- p.Leu705= Single submitter Alzheimer disease
- p.Leu7Val Single submitter Alzheimer disease
- p.Leu8= Single submitter Alzheimer disease
- p.Leu80= Single submitter Alzheimer disease
- p.Lys103= Single submitter Alzheimer disease
- p.Lys134Arg Single submitter Alzheimer disease
- p.Lys522= Single submitter
- p.Lys670= Single submitter Alzheimer disease
- p.Phe690= Single submitter Alzheimer disease
- p.Pro188= Single submitter Alzheimer disease
- p.Pro21= Single submitter Alzheimer disease
- p.Pro299= Single submitter Alzheimer disease
- p.Pro32= Single submitter Alzheimer disease
- p.Pro484= Single submitter
- p.Pro608= Single submitter Alzheimer disease
- p.Pro620= Single submitter Alzheimer disease
- p.Thr270= Single submitter
- p.Thr275= Single submitter Alzheimer disease
- p.Thr276= Single submitter Alzheimer disease
- p.Thr297= Single submitter Alzheimer disease
- p.Thr478= Single submitter Alzheimer disease
- p.Tyr168= Single submitter Alzheimer disease
- p.Tyr321= Single submitter Alzheimer disease
- p.Tyr497= Single submitter Alzheimer disease
- p.Tyr549= Single submitter
- p.Tyr588= Single submitter
- p.Tyr757= Single submitter Alzheimer disease
- p.Tyr762= Single submitter Alzheimer disease
- p.Val153= Single submitter Alzheimer disease
- p.Val409= Single submitter Alzheimer disease
- p.Val431= Single submitter Alzheimer disease
- p.Val551= Single submitter Alzheimer disease
- p.Val554= Single submitter Alzheimer disease
- p.Val609= Single submitter Alzheimer disease
- p.Val640= Single submitter
- c.1963+6A>C No assertion criteria APP-related disorder
- c.1963+8A>C No assertion criteria APP-related disorder
- c.-4C>T No assertion criteria APP-related disorder
- p.Ala201= No assertion criteria APP-related disorder
- p.Leu70= No assertion criteria APP-related disorder
Uncertain significance 267
- c.*7G>A Multiple submitters Alzheimer disease
- p.Ala500Thr Multiple submitters Alzheimer disease ⚠
- p.Ala741del Multiple submitters
- p.Arg116His Multiple submitters Alzheimer disease ⚠
- p.Arg16Gln Multiple submitters Alzheimer disease type 1 ⚠
- p.Arg16Trp Multiple submitters Alzheimer disease ⚠
- p.Arg469His Multiple submitters Alzheimer disease ⚠
- p.Arg486Gln Multiple submitters Alzheimer disease ⚠
- p.Arg540His Multiple submitters Alzheimer disease ⚠
- p.Arg585Lys Multiple submitters cerebral amyloid angiopathy, APP-related ⚠
- p.Arg747His Multiple submitters Inborn genetic diseases ⚠
- p.Asn195Ser Multiple submitters Alzheimer disease ⚠
- p.Asn660Tyr Multiple submitters Alzheimer disease ⚠
- p.Asp560Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp560Glu Multiple submitters Alzheimer disease ⚠
- p.Gln95Glu Multiple submitters Alzheimer disease ⚠
- p.Glu145Lys Multiple submitters Alzheimer disease ⚠
- p.Glu192Lys Multiple submitters Alzheimer disease ⚠
- p.Glu334Gln Multiple submitters Alzheimer disease ⚠
- p.Glu665Asp Multiple submitters Alzheimer disease ⚠
- p.Glu75= Multiple submitters Alzheimer disease
- p.Gly326Ser Multiple submitters Alzheimer disease ⚠
- p.Ile666Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu364Phe Multiple submitters Alzheimer disease ⚠
- p.Leu5Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys510Asn Multiple submitters Alzheimer disease ⚠
- p.Lys751Asn Multiple submitters Alzheimer disease ⚠
- p.Met338Val Multiple submitters Alzheimer disease ⚠
- p.Met345Ile Multiple submitters Alzheimer disease ⚠
- p.Pro261Ser Multiple submitters Alzheimer disease ⚠
- p.Pro639His Multiple submitters Alzheimer disease ⚠
- p.Ser346Tyr Multiple submitters Alzheimer disease type 1 ⚠
- p.Ser573Pro Multiple submitters Alzheimer disease ⚠
- p.Thr274Ala Multiple submitters Alzheimer disease ⚠
- p.Val225Ala Multiple submitters cerebral amyloid angiopathy, APP-related ⚠
- p.Val551Met Multiple submitters Alzheimer disease
- p.Val576Ile Multiple submitters Alzheimer disease ⚠
- p.Val738Ile Multiple submitters Alzheimer disease type 1 ⚠
- p.Val742Ile Multiple submitters Alzheimer disease ⚠
- c.1021_1033+438del Single submitter Alzheimer disease
- c.1033+4A>G Single submitter Alzheimer disease
- c.1034-6C>G Single submitter Alzheimer disease
- c.1090+1G>A Single submitter
- c.1090+3dup Single submitter
- c.1090+4C>T Single submitter Alzheimer disease
- c.1090+5G>A Single submitter Alzheimer disease
- c.1091-3T>C Single submitter Alzheimer disease
- c.1299+4A>G Single submitter
- c.1300-11T>G Single submitter Alzheimer disease type 1
- c.1300-3C>A Single submitter Alzheimer disease
- c.1587+6C>T Single submitter Alzheimer disease
- c.1909+5G>A Single submitter Alzheimer disease
- c.2064+10A>T Single submitter Alzheimer disease
- c.2064+4C>T Single submitter Alzheimer disease
- c.225+3A>G Single submitter
- c.226-3C>T Single submitter Alzheimer disease
- c.226-7082_355+12976del Single submitter familial focal epilepsy with variable foci
- c.355+6C>T Single submitter Alzheimer disease
- c.355+8G>T Single submitter
- c.468+11A>G Single submitter Alzheimer disease
- c.468+4C>G Single submitter Alzheimer disease
- c.58-28004_58-28001del Single submitter
- c.58-3C>T Single submitter Alzheimer disease
- c.865+3A>G Single submitter Alzheimer disease
- c.866-3T>C Single submitter Alzheimer disease
- c.-111G>T Single submitter Alzheimer disease
- c.-132G>T Single submitter Alzheimer disease
- c.-170C>A Single submitter cerebral amyloid angiopathy, APP-related
- c.-199G>A Single submitter cerebral amyloid angiopathy, APP-related
- c.-516C>G Single submitter
- c.*1015T>G Single submitter Alzheimer disease
- c.*18C>T Single submitter
- c.*194A>C Single submitter Alzheimer disease
- c.*289C>T Single submitter Alzheimer disease
- c.*2C>T Single submitter
- c.*355A>G Single submitter Alzheimer disease
- c.*356T>G Single submitter Alzheimer disease
- c.*454A>G Single submitter Alzheimer disease
- c.*489A>G Single submitter Alzheimer disease
- c.*521T>C Single submitter Alzheimer disease
- c.*6C>T Single submitter
- c.*735G>A Single submitter Alzheimer disease
- c.*810C>T Single submitter Alzheimer disease
- c.*97C>A Single submitter Alzheimer disease
- p.Ala242Thr Single submitter ⚠
- p.Ala265Val Single submitter ⚠
- p.Ala339Gly Single submitter Inborn genetic diseases
- p.Ala339Val Single submitter
- p.Ala344Thr Single submitter Alzheimer disease ⚠
- p.Ala344Val Single submitter ⚠
- p.Ala358Pro Single submitter Alzheimer disease ⚠
- p.Ala358Ser Single submitter Inborn genetic diseases ⚠
- p.Ala400Val Single submitter Alzheimer disease ⚠
- p.Ala416Val Single submitter Inborn genetic diseases ⚠
- p.Ala430Thr Single submitter Alzheimer disease ⚠
- p.Ala479Thr Single submitter
- p.Ala524Gly Single submitter Alzheimer disease ⚠
- p.Ala524Thr Single submitter Alzheimer disease ⚠
- p.Ala553Val Single submitter Alzheimer disease ⚠
- p.Ala555Val Single submitter Alzheimer disease ⚠
- p.Ala592Val Single submitter Alzheimer disease ⚠
- p.Arg100Trp Single submitter Alzheimer disease ⚠
- p.Arg140Thr Single submitter Alzheimer disease ⚠
- p.Arg16Pro Single submitter Alzheimer disease ⚠
- p.Arg180Gln Single submitter Alzheimer disease ⚠
- p.Arg268Lys Single submitter Alzheimer disease ⚠
- p.Arg268Thr Single submitter APP-related disorder ⚠
- p.Arg301Gly Single submitter Alzheimer disease ⚠
- p.Arg359Gln Single submitter Alzheimer disease ⚠
- p.Arg359Pro Single submitter ⚠
- p.Arg359Ter Single submitter
- p.Arg397Gly Single submitter ⚠
- p.Arg397Lys Single submitter Alzheimer disease ⚠
- p.Arg418Pro Single submitter ⚠
- p.Arg460= Single submitter Alzheimer disease
- p.Arg468His Single submitter Alzheimer disease ⚠
- p.Arg469Cys Single submitter Alzheimer disease ⚠
- p.Arg470His Single submitter cerebral amyloid angiopathy, APP-related ⚠
- p.Arg486= Single submitter Alzheimer disease
- p.Arg488Cys Single submitter Alzheimer disease
- p.Arg488His Single submitter Alzheimer disease ⚠
- p.Arg516Cys Single submitter Alzheimer disease
- p.Arg535His Single submitter Alzheimer disease ⚠
- p.Arg643Cys Single submitter Alzheimer disease ⚠
- p.Arg643His Single submitter Alzheimer disease ⚠
- p.Arg653= Single submitter Alzheimer disease
- p.Arg653Gln Single submitter cerebral amyloid angiopathy, APP-related
- p.Arg747Cys Single submitter Alzheimer disease ⚠
- p.Asn164Ile Single submitter Inborn genetic diseases ⚠
- p.Asn164Ser Single submitter ⚠
- p.Asn195Asp Single submitter Alzheimer disease ⚠
- p.Asn42= Single submitter Alzheimer disease
- p.Asn422His Single submitter Alzheimer disease ⚠
- p.Asn448Ser Single submitter Alzheimer disease ⚠
- p.Asn466Ser Single submitter Inborn genetic diseases ⚠
- p.Asn492Ser Single submitter Alzheimer disease ⚠
- p.Asn550Ser Single submitter Alzheimer disease ⚠
- p.Asn610His Single submitter Inborn genetic diseases ⚠
- p.Asn660Ser Single submitter Alzheimer disease ⚠
- p.Asn89Ser Single submitter Alzheimer disease ⚠
- p.Asp244Glu Single submitter Alzheimer disease ⚠
- p.Asp245_Asp248del Single submitter Alzheimer disease
- p.Asp245Tyr Single submitter ⚠
- p.Asp360_Lys363delinsGln Single submitter Alzheimer disease
- p.Asp384Gly Single submitter Inborn genetic diseases ⚠
- p.Asp427Val Single submitter Alzheimer disease
- p.Asp467Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp616Asn Single submitter Alzheimer disease type 1 ⚠
- p.Asp647Asn Single submitter
- p.Cys341Gly Single submitter Alzheimer disease ⚠
- p.Cys62Tyr Single submitter ⚠
- p.Gln294Arg Single submitter Alzheimer disease ⚠
- p.Gln436His Single submitter Inborn genetic diseases ⚠
- p.Gln81His Single submitter ⚠
- p.Glu227Lys Single submitter Inborn genetic diseases ⚠
- p.Glu241_Ala242insGlu Single submitter Alzheimer disease
- p.Glu241del Single submitter Alzheimer disease
- p.Glu255Gly Single submitter Alzheimer disease ⚠
- p.Glu263Lys Single submitter Inborn genetic diseases ⚠
- p.Glu31Asp Single submitter Inborn genetic diseases ⚠
- p.Glu380Lys Single submitter ⚠
- p.Glu417Gln Single submitter Inborn genetic diseases ⚠
- p.Glu437Asp Single submitter ⚠
- p.Glu449Lys Single submitter Alzheimer disease ⚠
- p.Glu583Gly Single submitter Alzheimer disease ⚠
- p.Glu605Gln Single submitter APP-related disorder ⚠
- p.Glu605Gly Single submitter Alzheimer disease ⚠
- p.Glu636Lys Single submitter Alzheimer disease ⚠
- p.Glu638Asp Single submitter Alzheimer disease ⚠
- p.Glu664Ala Single submitter Alzheimer disease ⚠
- p.Glu665del Single submitter Alzheimer disease
- p.Glu67Gly Single submitter Inborn genetic diseases ⚠
- p.Glu758Asp Single submitter ⚠
- p.Glu79= Single submitter Alzheimer disease
- p.Gly212Arg Single submitter Alzheimer disease
- p.Gly251Ser Single submitter Alzheimer disease ⚠
- p.Gly251Val Single submitter cerebral amyloid angiopathy, APP-related ⚠
- p.Gly298Arg Single submitter cerebral amyloid angiopathy, APP-related ⚠
- p.Gly325Asp Single submitter Inborn genetic diseases ⚠
- p.Gly383Glu Single submitter Alzheimer disease ⚠
- p.Gly657Ala Single submitter Alzheimer disease ⚠
- p.Gly657Glu Single submitter ⚠
- p.Gly68Ala Single submitter Inborn genetic diseases ⚠
- p.Gly696Ser Single submitter Alzheimer disease ⚠
- p.Gly756Asp Single submitter Alzheimer disease ⚠
- p.His149Arg Single submitter Alzheimer disease ⚠
- p.His166Asp Single submitter Alzheimer disease ⚠
- p.His166Tyr Single submitter Alzheimer disease ⚠
- p.His44Tyr Single submitter Alzheimer disease ⚠
- p.His457Tyr Single submitter Alzheimer disease ⚠
- p.Ile63Val Single submitter APP-related disorder ⚠
- p.Ile661Leu Single submitter Inborn genetic diseases ⚠
- p.Ile69Val Single submitter Alzheimer disease ⚠
- p.Ile702Met Single submitter Alzheimer disease ⚠
- p.Ile702Val Single submitter Alzheimer disease ⚠
- p.Leu189Met Single submitter Alzheimer disease ⚠
- p.Leu357Val Single submitter ⚠
- p.Leu41Val Single submitter Alzheimer disease ⚠
- p.Leu547= Single submitter Alzheimer disease
- p.Leu548Val Single submitter Alzheimer disease ⚠
- p.Leu565Val Single submitter Inborn genetic diseases ⚠
- p.Leu597Val Single submitter Alzheimer disease ⚠
- p.Leu5Phe Single submitter Alzheimer disease ⚠
- p.Leu650Gln Single submitter Inborn genetic diseases
- p.Leu688Val Single submitter ⚠
- p.Lys155Arg Single submitter ⚠
- p.Lys178Arg Single submitter Alzheimer disease ⚠
- p.Lys178Asn Single submitter Alzheimer disease ⚠
- p.Lys401Asn Single submitter Alzheimer disease ⚠
- p.Lys670Asn Single submitter ⚠
- p.Lys724Arg Single submitter Alzheimer disease ⚠
- p.Lys725Asn Single submitter Alzheimer disease ⚠
- p.Met493Ile Single submitter Inborn genetic diseases ⚠
- p.Met517Leu Single submitter ⚠
- p.Met580Val Single submitter ⚠
- p.Met671Leu Single submitter ⚠
- p.Met671Thr Single submitter Alzheimer disease ⚠
- p.Phe179Ser Single submitter Inborn genetic diseases ⚠
- p.Phe764Leu Single submitter Inborn genetic diseases ⚠
- p.Pro188Leu Single submitter Alzheimer disease ⚠
- p.Pro356Ala Single submitter Alzheimer disease ⚠
- p.Pro372Leu Single submitter Alzheimer disease type 1 ⚠
- p.Pro485Leu Single submitter Alzheimer disease ⚠
- p.Pro584Ala Single submitter Alzheimer disease ⚠
- p.Pro620Leu Single submitter ⚠
- p.Pro91Gln Single submitter ⚠
- p.Ser206Leu Single submitter Alzheimer disease ⚠
- p.Ser292= Single submitter
- p.Ser346Phe Single submitter Alzheimer disease ⚠
- p.Ser750Cys Single submitter Alzheimer disease ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr269= Single submitter
- p.Thr270Ile Single submitter Alzheimer disease ⚠
- p.Thr276Ala Single submitter APP-related disorder ⚠
- p.Thr278_Thr280del Single submitter Alzheimer disease
- p.Thr279_Thr280del Single submitter Alzheimer disease
- p.Thr279_Thr280dup Single submitter Alzheimer disease
- p.Thr280del Single submitter
- p.Thr297Ser Single submitter Inborn genetic diseases ⚠
- p.Thr353Ile Single submitter ⚠
- p.Thr456Ala Single submitter Alzheimer disease ⚠
- p.Thr59Ile Single submitter Alzheimer disease ⚠
- p.Thr602Ser Single submitter Alzheimer disease ⚠
- p.Thr663Met Single submitter Alzheimer disease ⚠
- p.Thr761Ala Single submitter Alzheimer disease ⚠
- p.Tyr336= Single submitter Alzheimer disease
- p.Tyr538His Single submitter Alzheimer disease ⚠
- p.Tyr549Cys Single submitter Alzheimer disease ⚠
- p.Tyr762Phe Single submitter Alzheimer disease ⚠
- p.Val153Ile Single submitter Alzheimer disease ⚠
- p.Val226Glu Single submitter Alzheimer disease ⚠
- p.Val290= Single submitter
- p.Val340Leu Single submitter Alzheimer disease ⚠
- p.Val340Met Single submitter ⚠
- p.Val375Ile Single submitter Alzheimer disease ⚠
- p.Val562Ile Single submitter Alzheimer disease ⚠
- p.Val629Ala Single submitter ⚠
- p.Val669Met Single submitter ⚠
- p.Val683Ile Single submitter Alzheimer disease ⚠
- p.Val689= Single submitter
- p.Val695Ala Single submitter Inborn genetic diseases ⚠
- c.*329AT[1] No assertion criteria APP-related disorder
- p.Ala479Ser No assertion criteria APP-related disorder ⚠
- p.Arg397Thr No assertion criteria APP-related disorder ⚠
- p.Gln138Arg No assertion criteria APP-related disorder ⚠
- p.Met43Val No assertion criteria Alzheimer disease type 1 ⚠
- p.Ser343Asn No assertion criteria Alzheimer disease type 1 ⚠