NDDVD - Neurodegenerative Diseases Variation Database
TSC2 (tuberous sclerosis 2)
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Curator:
Y Yang
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View TSC2 gene homepage
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View all transcripts of gene TSC2
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View all variants affecting transcripts
View unique variants in gene TSC2
View all variants in gene TSC2
Full data view for gene TSC2
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View all individuals with variants in gene TSC2
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View all diseases associated with gene TSC2
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View all screenings for gene TSC2
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All individuals with variants in gene TSC2
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.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
259 entries on 3 pages. Showing entries 1 - 100.
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Legend
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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00004525
-
-
-
TSC
-
1
1
Y Yang
00004526
-
-
-
TSC
-
1
1
Y Yang
00004527
-
-
-
TSC
-
1
1
Y Yang
00004528
-
-
-
TSC
-
1
1
Y Yang
00004529
-
-
-
TSC
-
1
1
Y Yang
00004530
-
-
-
TSC
-
1
1
Y Yang
00004531
-
-
-
TSC
-
1
1
Y Yang
00004532
-
-
-
TSC
-
1
1
Y Yang
00004533
-
-
-
TSC
-
1
1
Y Yang
00004534
-
-
-
TSC
-
1
1
Y Yang
00004535
-
-
-
TSC
-
1
1
Y Yang
00004536
-
-
-
TSC
-
1
1
Y Yang
00004537
-
-
-
TSC
-
1
1
Y Yang
00004538
-
-
-
TSC
-
1
1
Y Yang
00004539
-
-
-
TSC
-
1
1
Y Yang
00004540
-
-
-
TSC
-
1
1
Y Yang
00004541
-
-
-
TSC
-
1
1
Y Yang
00004542
-
-
-
TSC
-
1
1
Y Yang
00004543
-
-
-
TSC
-
1
1
Y Yang
00004544
-
-
-
TSC
-
1
1
Y Yang
00004545
-
-
-
TSC
-
1
1
Y Yang
00004546
-
-
-
TSC
-
1
1
Y Yang
00004547
-
-
-
TSC
-
1
1
Y Yang
00004548
-
-
-
TSC
-
1
1
Y Yang
00004549
-
-
-
TSC
-
1
1
Y Yang
00004550
-
-
-
TSC
-
1
1
Y Yang
00004551
-
-
-
TSC
-
1
1
Y Yang
00004552
-
-
-
TSC
-
1
1
Y Yang
00004553
-
-
-
TSC
-
1
1
Y Yang
00004554
-
-
-
TSC
-
1
1
Y Yang
00004555
-
-
-
TSC
-
1
1
Y Yang
00004556
-
-
-
TSC
-
1
1
Y Yang
00004557
-
-
-
TSC
-
1
1
Y Yang
00004558
-
-
-
TSC
-
1
1
Y Yang
00004559
-
-
-
TSC
-
1
1
Y Yang
00004560
-
-
-
TSC
-
1
1
Y Yang
00004561
-
-
-
TSC
-
1
1
Y Yang
00004562
-
-
-
TSC
-
1
1
Y Yang
00004563
-
-
-
TSC
-
1
1
Y Yang
00004564
-
-
-
TSC
-
1
1
Y Yang
00004565
-
-
-
TSC
-
1
1
Y Yang
00004566
-
-
-
TSC
-
1
1
Y Yang
00004567
-
-
-
TSC
-
1
1
Y Yang
00004568
-
-
-
TSC
-
1
1
Y Yang
00004569
-
-
-
TSC
-
1
1
Y Yang
00004570
-
-
-
TSC
-
1
1
Y Yang
00004571
-
-
-
TSC
-
1
1
Y Yang
00004572
-
-
-
TSC
-
1
1
Y Yang
00004573
-
-
-
TSC
-
1
1
Y Yang
00004574
-
-
-
TSC
-
1
1
Y Yang
00004575
-
-
-
TSC
-
1
1
Y Yang
00004576
-
-
-
TSC
-
1
1
Y Yang
00004577
-
-
-
TSC
-
1
1
Y Yang
00004578
-
-
-
TSC
-
1
1
Y Yang
00004579
-
-
-
TSC
-
1
1
Y Yang
00004580
-
-
-
TSC
-
1
1
Y Yang
00004581
-
-
-
TSC
-
1
1
Y Yang
00004582
-
-
-
TSC
-
1
1
Y Yang
00004583
-
-
-
TSC
-
1
1
Y Yang
00004584
-
-
-
TSC
-
1
1
Y Yang
00004585
-
-
-
TSC
-
1
1
Y Yang
00004586
-
-
-
TSC
-
1
1
Y Yang
00004587
-
-
-
TSC
-
1
1
Y Yang
00004588
-
-
-
TSC
-
1
1
Y Yang
00004589
-
-
-
TSC
-
1
1
Y Yang
00004590
-
-
-
TSC
-
1
1
Y Yang
00004591
-
-
-
TSC
-
1
1
Y Yang
00004592
-
-
-
TSC
-
1
1
Y Yang
00004593
-
-
-
TSC
-
1
1
Y Yang
00004594
-
-
-
TSC
-
1
1
Y Yang
00004595
-
-
-
TSC
-
1
1
Y Yang
00004596
-
-
-
TSC
-
1
1
Y Yang
00004597
-
-
-
TSC
-
1
1
Y Yang
00004598
-
-
-
TSC
-
1
1
Y Yang
00004599
-
-
-
TSC
-
1
1
Y Yang
00004600
-
-
-
TSC
-
1
1
Y Yang
00004601
-
-
-
TSC
-
1
1
Y Yang
00004602
-
-
-
TSC
-
1
1
Y Yang
00004603
-
-
-
TSC
-
1
1
Y Yang
00004604
-
-
-
TSC
-
1
1
Y Yang
00004605
-
-
-
TSC
-
1
1
Y Yang
00004606
-
-
-
TSC
-
1
1
Y Yang
00004607
-
-
-
TSC
-
1
1
Y Yang
00004608
-
-
-
TSC
-
1
1
Y Yang
00004609
-
-
-
TSC
-
1
1
Y Yang
00004610
-
-
-
TSC
-
1
1
Y Yang
00004611
-
-
-
TSC
-
1
1
Y Yang
00004612
-
-
-
TSC
-
1
1
Y Yang
00004613
-
-
-
TSC
-
1
1
Y Yang
00004614
-
-
-
TSC
-
1
1
Y Yang
00004615
-
-
-
TSC
-
1
1
Y Yang
00004616
-
-
-
TSC
-
1
1
Y Yang
00004617
-
-
-
TSC
-
1
1
Y Yang
00004618
-
-
-
TSC
-
1
1
Y Yang
00004619
-
-
-
TSC
-
1
1
Y Yang
00004620
-
-
-
TSC
-
1
1
Y Yang
00004621
-
-
-
TSC
-
1
1
Y Yang
00004622
-
-
-
TSC
-
1
1
Y Yang
00004623
-
-
-
TSC
-
1
1
Y Yang
00004624
-
-
-
TSC
-
1
1
Y Yang
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