x

1 Mutation

1. A23A (Benign)

x

1 Mutation

1. N43N (Benign)

x

1 Mutation

1. T18M (Benign)

x

1 Mutation

1. R29H (Uncertain Significance)

x

1 Mutation

1. G34S (Benign)

x

2 Mutations View Table

1. R62C (Benign)
2. R62H (Benign)

x

1 Mutation

1. C65Y (svPPA: Not Classified)

x

1 Mutation

1. P69A (Benign)

x

1 Mutation

1. R71W (Benign)

x

1 Mutation

1. L79P (Not Classified)

x

1 Mutation

1. K82R (Not Classified)
2. K82fs (Tauopathy: Not Classified)

x

1 Mutation

1. A85V (Uncertain Significance)

x

1 Mutation

1. I100I (Likely Benign)

x

1 Mutation

1. V101M (Not Classified)

x

1 Mutation

1. K115Efs* (Uncertain Significance)

x

1 Mutation

1. G117Ter (Not Classified)

x

1 Mutation

1. P123L (Not Classified)

x

1 Mutation

1. S130L (Uncertain Significance)

x

1 Mutation

1. L135R (Not Classified)

x

1 Mutation

1. V139M (Benign)

x

4 Mutations View Table

1. N141I (Volga German) (Pathogenic)
2. N141S (Not Classified)
3. N141Y (Pathogenic)
4. N141D (Not Classified)

x

1 Mutation

1. L143H (Not Classified)

x

1 Mutation

1. S147N (Not Classified)

x

1 Mutation

1. V148I (Uncertain Significance)

x

1 Mutation

1. K161R (Not Classified)

x

2 Mutations View Table

1. R163C (Uncertain Significance)
2. R163H (Benign)

x

1 Mutation

1. H169N (Uncertain Significance)

x

2 MutationsView Table

1. M174I (Not Classified)
2. M174V (Benign)

x

2 Mutations View Table

1. S175C (Not Classified)
2. S175F (Not Classified)

x

1 Mutation

1. Y195C (Not Classified)

x

1 Mutation

1. G212V (Not Classified)

x

1 Mutation

1. V214L (Benign)

x

1 Mutation

1. H220Y (Not Classified)

x

1 Mutation

1. L225P (Not Classified)

x

1 Mutation

1. Q228L (Not Classified)

x

1 Mutation

1. Y231C (FTD: Not Classified)

x

1 Mutation

1. I235F (Not Classified)

x

1 Mutation

1. A237V (Uncertain Significance)

x

2 Mutations View Table

1. L238F (Uncertain Significance)
2. L238P (Uncertain Significance)

x

2 Mutations View Table

1. M239I (Pathogenic)
2. M239T (Pathogenic)
3. M239V (Pathogenic)

x

1 Mutation

1. A252T (Benign)

x

2 Mutations View Table

1. A258T (Benign)
2. A258V (Not Classified)

x

1 Mutation

1. M298T (Lightly Pathogenic)

x

1 Mutation

1. T301M (Benign)

x

1 Mutation

1. K306fs (Not Classified)

x

2 Mutations View Table

1. P334A (Benign)
2. P334R (Benign)

x

1 Mutation

1. P348L (Not Classified)

x

1 Mutation

1. I368F (Not Classified)

x

1 Mutation

1. F369S (Not Classified)

x

1 Mutation

1. A377V (Not Classified)

x

1 Mutation

1. T388M (Not Classified)

x

1 Mutation

1. C391R (Not Classified)

x

1 Mutation

1. V393M (Benign)

x

1 Mutation

1. A394Pfs*8 (Not Classified)

x

1 Mutation

1. A415S (Not Classified)

x

1 Mutation

1. T430M (Uncertain Significance)

x

1 Mutation

1. D439A (Likely Benign)

x

1 Mutation

1. T421M (Benign)

x

1 Mutation

1. A379D (Not Classified)

x

2 Mutations View Table

1. G359Lfs*74 (Intron 11 delA) (Not Classified)
2. G359Lfs*74 (Intron 11 delAG) (ALS: Not Classified)

x

1 Mutation

1. V150M (Not Classified)

x

1 Mutation

1. I146T (Uncertain Significance)

x

1 Mutation

1. I149T (Not Classified)

x

1 Mutation

1. T153S (Not Classified)

x

1 Mutation

1. P436L (Dementia: Not Classified)

x

1 Mutation

1. R435Q (Uncertain Significance)

x

1 Mutation

1. R284G (Likely Pathogenic)

x

1 Mutation

1. S236S (Benign)

x

1 Mutation

1. P287P (Likely Benign)

x

1 Mutation

1. F183S (Not Classified)