Coppola Lab - GIFT Variant Database
LOVD v.3.0 Build 21 [
Current LOVD status
]
Register as submitter
|
Log in
View all genes
View all transcripts
View all genomic variants
View all variants affecting transcripts
View all individuals
View all diseases
View all screenings
Submit new data
All genes
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
11 entries on 1 page. Showing entries 1 - 11.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Symbol
Gene
Chr
Band
Transcripts
Variants
Unique variants
Last updated
Associated with diseases
APP
amyloid beta precursor protein
21
q21.3
1
52
27
2017-10-16
AD, FTD
C9orf72
chromosome 9 open reading frame 72
9
p21.2
1
2
2
2017-11-06
AD, ALS, FTD
CHMP2B
charged multivesicular body protein 2B
3
p11.2
1
9
9
2017-11-06
FTD, IBMPFD
FUS
FUS RNA binding protein
16
p11.2
1
26
26
2017-11-17
ALS, FTD
GRN
granulin precursor
17
q21.31
1
125
117
2017-10-13
AD, FTD
MAPT
microtubule associated protein tau
17
q21.31
2
50
43
2018-02-15
AD, FTD
PSEN1
presenilin 1
14
q24.2
1
226
218
2017-10-17
AD, FTD
PSEN2
presenilin 2
1
q42.13
1
32
31
2017-09-25
AD, FTD
TARDBP
TAR DNA binding protein
1
p36.22
1
36
36
2017-11-17
AD, ALS, FTD
TBK1
TANK binding kinase 1
12
q14.2
1
53
53
2017-11-17
FTD
VCP
valosin containing protein
9
p13.3
1
23
23
2018-07-05
FTD, IBMPFD
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Powered by
LOVD v.3.0
Build 21
LOVD software ©2004-2018
Leiden University Medical Center