x

1 Mutation

1. S198P (Benign)

x

1 Mutation

1. A201V (Benign)

x

1 Mutation

1. A235V (Benign)

x

1 Mutation

1. P299L (Not Classified)

x

1 Mutation

1. V340M (Uncertain Significance)

x

1 Mutation

1. R468H (Benign)

x

1 Mutation

1. A479S (Benign)

x

1 Mutation

1. A500T (Not Classified)

x

1 Mutation

1. Y538H (Benign)

x

1 Mutation

1. V562I (Not Classified)

x

• News: Enter Aη: Alternative APP Cleavage Creates Synaptotoxic Peptide
• Paper: η-Secretase processing of APP inhibits neuronal activity in the hippocampus

x

• News: Enter Aη: Alternative APP Cleavage Creates Synaptotoxic Peptide
• Paper: η-Secretase processing of APP inhibits neuronal activity in the hippocampus

x

1 Mutation

1. E599K (Benign)

x

1 Mutation

1. T600M (Benign)

x

1 Mutation

1. S614G (Uncertain Significance)

x

2 Mutations View Table

1. P620A (Not Classified)
2. P620L (Uncertain Significance)

x

1 Mutation

1. T663M (Not Classified)

x

1 Mutation

1. E665D (Benign)

x

1 Mutation

1. K670_M671delinsNL (Swedish)

x

1 Mutation

1. K670_M671delinsNL (Swedish)

x

2 Mutations View Table

1. A673T (Icelandic) (Protective)
2. A673V (Not Classified)

x

1 Mutation

1. H677R (English) (Not Classified)

x

2 Mutations View Table

1. D678N (Tottori) (Pathogenic)
2. D678H (Taiwanese) (Pathogenic)

x

2 Mutations View Table

1. E682K (Leuven) (Not Classified)
2. E682V (Not Classified)

x

2 Mutations

1. K687N (A>T) (Not Classified)
2. K687N (A>C) (Likely Pathogenic)
3. K687Q (Pathogenic)

x

1 Mutation

1. L688V (Greek) (VAD: Pathogenic)

x

2 Mutations View Table

1. A692G (Flemish) (Pathogenic)
2. F690_V695del (Uppsala) (Pathogenic)

x

5 Mutations View Table

1. E693del (Osaka) (Likely Pathogenic)
2. E693G (Arctic) (Pathogenic)
3. E693K (Italian) (CAA: Pathogenic)
4. E693Q (Dutch) (CAA: Pathogenic)
5. F690_V695del (Uppsala) (Pathogenic)

x

2 Mutations View Table

1. D694N (Iowa) (VaD: Pathogenic)
2. F690_V695del (Uppsala) (Pathogenic)

x

1 Mutation

1. N698D (Not Classified)

x

1 Mutation

1. L705V (Pathogenic)

x

1 Mutation

1. G708G (Benign)

x

1 Mutation

1. G709S (PDD: Not Classified)

x

2 Mutations View Table

1. A713T (Uncertain Significance)
2. A713V (Benign)

x

2 Mutations View Table

1. T714A (Iranian) (Pathogenic)
2. T714I (Austrian) (Pathogenic)

x

2 Mutations View Table

1. V715A (German) (Pathogenic)
2. V715M (French) (Pathogenic)

x

4 Mutations View Table

1. I716F (Iberian) (Pathogenic)
2. I716M (Not Classified)
3. I716T (Not Classified)
4. I716V (Florida) (Not Classified)

x

4 Mutations View Table

1. V717F (Indiana) (Pathogenic)
2. V717G (Pathogenic)
3. V717I (London) (Pathogenic)
4. V717L (Pathogenic)

x

2 Mutations

1. T719P (Not Classified)
2. T719N (Pathogenic)

x

1 Mutation

1. M722K (Pathogenic)

x

1 Mutation

1. L723P (Australian) (Pathogenic)

x

2 Mutations

1. K724N (Belgian) (Not Classifed)
2. K724M (Likely Pathogenic)

x

1 Mutation

1. H733P (Not Classified)

x

1 Mutation

1. V669L (Not Classified)

x

1 Mutation

1. H677R (English) (Not Classified)

x

2 Mutations View Table

1. D678N (Tottori) (Pathogenic)
2. D678H (Taiwanese) (Pathogenic)

x

2 Mutations View Table

1. E682K (Leuven) (Not Classified)
2. E682V (Not Classified)

x

2 MutationsView Table

1. K687N (A>T) (Not Classified)
2. K687N (A>C) (Likely Pathogenic)
3. K687Q (Pathogenic)

x

1 Mutation

1. L688V (Greek) (VAD: Pathogenic)

x

2 MutationsView Table

1. A692G (Flemish) (Pathogenic)
2. F690_V695del (Uppsala) (Pathogenic)

x

5 Mutations View Table

1. E693del (Osaka) (Likely Pathogenic)
2. E693G (Arctic) (Pathogenic)
3. E693K (Italian) (CAA: Pathogenic)
4. E693Q (Dutch) (CAA: Pathogenic)
5. F690_V695del (Uppsala) (Pathogenic)

x

2 Mutations View Table

1. D694N (Iowa) (VaD: Pathogenic)
2. F690_V695del (Uppsala) (Pathogenic)

x

1 Mutation

1. L705V (Pathogenic)

x

1 Mutation

1. G709S (PDD: Not Classified)

x

2 Mutations View Table

1. A713T (Benign)
2. A713V (Benign)

x

2 Mutations View Table

1. T714A (Iranian) (Pathogenic)
2. T714I (Austrian) (Pathogenic)

x

2 Mutations View Table

1. V715A (German) (Pathogenic)
2. V715M (French) (Pathogenic)

x

4 Mutations View Table

1. I716F (Iberian) (Pathogenic)
2. I716M (Not Classified)
3. I716T (Not Classified)
4. I716V (Florida) (Not Classified)

x

1 Mutation

1. K670_M671delinsNL (Swedish) (Pathogenic)

x

2 MutationsView Table

1. V695M (Not Classified)
2. F690_V695del (Uppsala) (Pathogenic)

x

1 Mutation

1. E380K (Uncertain Significance)

x

1 Mutation

1. R486W (Not Classified)

x

1 Mutation

1. V604M (Benign)

x

1 Mutation

1. F690_V695del (Uppsala) (Pathogenic)

x

1 Mutation

1. F690_V695del (Uppsala) (Pathogenic)

x

1 Mutation

1. F690_V695del (Uppsala) (Pathogenic)

x

1 Mutation

1. F690_V695del (Uppsala) (Pathogenic)

x

2 Mutations View Table

1. A692G (Flemish) (Pathogenic)
2. F690_V695del (Uppsala) (Pathogenic)

x

2 Mutations View Table

1. V695M (Not Classified)
2. F690_V695del (Uppsala) (Pathogenic)

x

1 Mutation

1. G708G (Benign)