ID | Diagnosis | AAO (years) | Sex | FH | APOE | Gene | Variant | Position | Transcript | CADD | ClinVar | Significance for disease |
---|---|---|---|---|---|---|---|---|---|---|---|---|
EOD-1 | AD | 54 | f | 3 | E2/E3 | PSEN1 | c.356C > T; p.T119I | chr14:73640291-73640291 | NM_000021.3 | 24.4 | LP | Relevant for diagnosis |
EOD-2 | bvFTD | 44 | f | 1 | E4/E3 | MAPT | c.1907C > T; p.P636L | chr17:44087755-44087755 | NM_001123066.3 | 34.0 | P | Relevant for diagnosis |
TREM2 | c.184G > A; p.R62C | chr6:41129208-41129208 | NM_001271821.1 | 25.5 | n.r | Risk modifier | ||||||
APOE | Risk modifier | |||||||||||
EOD-3 | AD | 45 | f | 2 | E3/E3 | |||||||
EOD-4 | AD | 51 | f | 4 | E4/E3 | APOE | Risk modifier | |||||
EOD-5 | nfPPA | 58 | f | 2 | E3/E2 | |||||||
EOD-6 | AD | 56 | f | 3 | E3/E3 | |||||||
EOD-7 | AD/PCA | 56 | f | 4 | E3/E3 | |||||||
EOD-8 | bvFTD | 56 | m | 4 | E3/E3 | BACE1 | c.1427T > C; p.M476T | chr11:117160361-117160361 | NM_012104.3 | 26.4 | n.r | Unknown |
VPS13C | c.9757A > G; p.S3253G | chr15:62173781-62173781 | NM_020821.2 | 29.5 | n.r | Unknown | ||||||
EOD-9 | AD | 55 | f | 3,5 | E4/E3 | APOE | Risk modifier | |||||
EOD-10 | AD | 58 | f | 3,5 | E3/E3 | |||||||
EOD-11 | AD | 63 | m | 4 | E3/E3 | |||||||
EOD-12 | mixed dementia (AD + VD) | 55 | m | 3,5 | E4/E3 | APOE | Risk modifier | |||||
EOD-13 | AD | 61 | m | 4,5 | E3/E3 | |||||||
EOD-14 | AD/lpPPA | 61 | m | 4 | E4/E3 | APOE | Risk modifier | |||||
VPS13C | c.4300C > T; p.V1434I | chr15:62244179-62244179 | NM_020821.2 | 24.8 | n.r | Unknown | ||||||
EOD-15 | nfPPA | 64 | m | 2 | E3/E3 | DCTN1 | c.2218C > T; p.E740K | chr2:74594514-74594514 | NM_004082.4 | 24.0 | n.r | Unknown |
EOD-16 | AD | 56 | f | 4 | E3/E3 | |||||||
EOD-17 | AD (PD) | 60 | m | 1 | E4/E3 | APOE | Risk modifier | |||||
MAPK8IP3 | g.chr16:1816528 A > G; c.2817-2A > G | chr16:1816528-1816528 | NM_015133.3 | 22.3 | n.r | Unknown | ||||||
EOD-18a | AD | 47 | m | 4 | E3/E3 | APP | g.chr.21:(?_26958019)-(27852747_?)dup | P | Relevant for diagnosis | |||
ABCA7 | c.2914C > T; p.P972S | chr19:1051537-1051537 | NM_019112.3 | 25.3 | n.r | Potential risk modifier | ||||||
EOD-19 | AD | 51 | m | 1 | E3/E3 | APP | g.chr.21:(?_27253981)-(27542937_?)dup | P | Relevant for diagnosis | |||
EOD-19 (2)b | AD | 47 | m | 1 | E3/E3 | APP | g.chr.21:(?_27253981)-(27542937_?)dup | P | Relevant for diagnosis | |||
EOD-20 | AD | 57 | m | 4,5 | E3/E3 | LRRK2 | c.7397T > A; p.L2466H | chr12:40760814-40760814 | NM_198578.3 | 25.7 | VUS | Unknown |
EOD-21 | CAA | 54 | m | 3,5 | E4/E4 | APOE | Relevant for diagnosis | |||||
EOD-22 | AD | 49 | m | 4 | E4/E4 | APOE | Relevant for diagnosis | |||||
EOD-23 | AD | 36 | f | 1 | E3/E3 | PSEN1 | c.617G > A; p.G206D | chr14:73659420-73659420 | NM_000021.3 | 31.0 | P | Relevant for diagnosis |
EOD-24 | AD | 53 | m | 3,5 | E4/E4 | APOE | Relevant for diagnosis | |||||
EOD-25 | AD | 51 | f | 3,5 | E4/E4 | APOE | Relevant for diagnosis | |||||
EOD-26 | AD | 56 | f | 4 | E3/E3 | DCTN1 | c.2980G > C; p.P994A | chr2:74590268-74590268 | NM_023019.3 | 17.3 | VUS | Unknown |
MAPK8IP3 | c.2087G > A; p.R696H | chr16:1814180-1814180 | NM_015133.3 | 31.0 | n.r | Unknown | ||||||
EOD-27 | AD | 57 | f | 4 | E4/E3 | APOE | Risk modifier | |||||
EOD-28 | AD | 54 | m | 4 | E3/E3 | |||||||
EOD-29 | AD | 54 | m | 4 | E3/E3 | |||||||
EOD-30 | AD | 64 | m | 4 | E3/E3 | |||||||
EOD-31 | mixed dementia (AD + VD) | 58 | m | 3,5 | E3/E3 | |||||||
EOD-32 | FTD/svPPA | 61 | m | 4 | E3/E3 | |||||||
EOD-33 | AD | 62 | f | 4,5 | E4/E3 | APOE | Risk modifier | |||||
DCTN1 | c.521G > A; p.S174L | chr2:74598788-74598788 | NM_004082.4 | 24.4 | VUS | Unknown | ||||||
EOD-34 | AD | 59 | f | 2 | E4/E3 | APOE | Risk modifier | |||||
EOD-35 | AD | 55 | m | 3,5 | E4/E3 | APOE | Risk modifier | |||||
EOD-36c | AD | 64 | m | 2 | E4/E3 | TREM2 | c.140G > A; p.R47H | chr6:41129252-41129252 | NM_018965.3 | 9.7 | LB | Risk modifier |
APOE | Risk modifier | |||||||||||
EOD-37 | AD | 52 | f | 3,5 | E3/E3 | LRRK2 | c.7397T > A; p.L2466H | chr12:40760814-40760814 | NM_198578.3 | 25.7 | VUS | Unknown |
EOD-38 | AD | 52 | f | 3,5 | E4/E3 | APOE | Risk modifier | |||||
EOD-39 | AD | 63 | f | 3 | E4/E3 | APOE | Risk modifier | |||||
EOD-40 | AD | 55 | f | 4 | E4/E3 | APOE | Risk modifier | |||||
EOD-41 | AD | 58 | m | 3,5 | E3/E3 | |||||||
EOD-42 | AD | 39 | m | 4 | E3/E2 | |||||||
EOD-43 | AD | 63 | m | 4 | E3/E3 | VPS13C | c.3148A > G; p.I1050V | chr15:62256964-62256964 | NM_020821.2 | 0.001 | VUS | Unknown |
EOD-44 | AD/lpPPA | 58 | f | 3,5 | E3/E3 | SORL1 | c.3014T > G; p.M1005R | chr11:121430331-121430331 | NM_003105.5 | 27.9 | n.r | Potential risk modifier |
EOD-45 | AD | 65 | m | 4 | E3/E3 | |||||||
EOD-46 | CBS + AD | 51 | f | 3,5 | E3/E3 | SORL1 | c.4606G > A; p.G1536S | chr11:121474988-121474988 | NM_003105.5 | 25.2 | B | Risk modifier |
EOD-47 | AD | 54 | f | 4 | E3/E3 | |||||||
EOD-48 | bvFTD | 57 | m | 4 | E3/E3 | |||||||
EOD-49 | FTD/nfPPA + ALS | 58 | m | 4 | E3/E3 | TBK1 | c.986T > C; p.L276P | chr12:64875636-64875636 | NM_013254.3 | n.r | Potential risk modifier | |
VPS13C | c.7436T > C; p.I2429T | chr15:62212307-62212307 | NM_020821.2 | n.r | Unknown | |||||||
EOD-50 | FTD (bvFTD + nfPPA) | 55 | f | 3,5 | E4/E3 | PGRN | c.328C > T; p.R110* | chr17:42427098-42427098 | NM_002087.3 | 29.4 | P | Relevant for diagnosis |
APOE | Risk modifier | |||||||||||
EOD-51 | FTD/svPPA | 62 | f | 4 | E3/E3 | |||||||
EOD-52 | AD | 57 | m | 4 | E4/E3 | APOE | Risk modifier | |||||
EOD-53 | AD | 57 | m | 4 | E4/E4 | APOE | Relevant for diagnosis | |||||
LRRK2 | c.7377G > A; p.M2459I | chr12:40758839-40758839 | NM_198578.3 | 17.7 | n.r | Unknown | ||||||
EOD-54 | AD | 59 | m | 1 | E4/E3 | APOE | Risk modifier | |||||
EOD-55 | AD | 49 | m | 4 | E3/E3 | |||||||
EOD-56 | AD | 61 | m | 3,5 | E3/E3 | |||||||
EOD-57 | AD/lpPPA | 57 | f | 4 | E3/E3 | |||||||
EOD-58 | AD + VD | 64 | f | 3 | E3/E3 | DCTN1 | c.823C > T; p.R141C | chr2:74598126-74598126 | NM_004082.3 | 29.3 | VUS | Unknown |
EOD-59 | bvFTD | 52 | m | 4 | E4/E3 | APOE | Risk modifier | |||||
EOD-60 | AD | 49 | f | 3 | E3/E3 | APP | c.2092G > A; p.V586I | chr21:27264096 | NM_201413.3 | 28.2 | P | Relevant for diagnosis |