NDDVD - Neurodegenerative Diseases Variation Database
NF2 (neurofibromin 2 (merlin))
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Curator:
Y Yang
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View all variants affecting transcripts
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All individuals with variants in gene NF2
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.
107 entries on 2 pages. Showing entries 1 - 100.
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How to query
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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00002482
-
-
-
NF2
-
1
1
Y Yang
00002483
-
-
-
NF2
-
1
1
Y Yang
00002484
-
-
-
NF2
-
1
1
Y Yang
00002485
-
-
-
NF2
-
1
1
Y Yang
00002486
-
-
-
NF2
-
1
1
Y Yang
00002487
-
-
-
NF2
-
1
1
Y Yang
00002488
-
-
-
NF2
-
1
1
Y Yang
00002489
-
-
-
NF2
-
1
1
Y Yang
00002490
-
-
-
NF2
-
1
1
Y Yang
00002491
-
-
-
NF2
-
1
1
Y Yang
00002492
-
-
-
NF2
-
1
1
Y Yang
00002493
-
-
-
NF2
-
1
1
Y Yang
00002494
-
-
-
NF2
-
1
1
Y Yang
00002495
-
-
-
NF2
-
1
1
Y Yang
00002496
-
-
-
NF2
-
1
1
Y Yang
00002497
-
-
-
NF2
-
1
1
Y Yang
00002498
-
-
-
NF2
-
1
1
Y Yang
00002499
-
-
-
NF2
-
1
1
Y Yang
00002500
-
-
-
NF2
-
1
1
Y Yang
00002501
-
-
-
NF2
-
1
1
Y Yang
00002502
-
-
-
NF2
-
1
1
Y Yang
00002503
-
-
-
NF2
-
1
1
Y Yang
00002504
-
-
-
NF2
-
1
1
Y Yang
00002505
-
-
-
NF2
-
1
1
Y Yang
00002506
-
-
-
NF2
-
1
1
Y Yang
00002507
-
-
-
NF2
-
1
1
Y Yang
00002508
-
-
-
NF2
-
1
1
Y Yang
00002509
-
-
-
NF2
-
1
1
Y Yang
00002510
-
-
-
NF2
-
1
1
Y Yang
00002511
-
-
-
NF2
-
1
1
Y Yang
00002512
-
-
-
NF2
-
1
1
Y Yang
00002513
-
-
-
NF2
-
1
1
Y Yang
00002514
-
-
-
NF2
-
1
1
Y Yang
00002515
-
-
-
NF2
-
1
1
Y Yang
00002516
-
-
-
NF2
-
1
1
Y Yang
00002517
-
-
-
NF2
-
1
1
Y Yang
00002518
-
-
-
NF2
-
1
1
Y Yang
00002519
-
-
-
NF2
-
1
1
Y Yang
00002520
-
-
-
NF2
-
1
1
Y Yang
00002521
-
-
-
NF2
-
1
1
Y Yang
00002522
-
-
-
NF2
-
1
1
Y Yang
00002523
-
-
-
NF2
-
1
1
Y Yang
00002524
-
-
-
NF2
-
1
1
Y Yang
00002525
-
-
-
NF2
-
1
1
Y Yang
00002526
-
-
-
NF2
-
1
1
Y Yang
00002527
-
-
-
NF2
-
1
1
Y Yang
00002528
-
-
-
NF2
-
1
1
Y Yang
00002529
-
-
-
NF2
-
1
1
Y Yang
00002530
-
-
-
NF2
-
1
1
Y Yang
00002531
-
-
-
NF2
-
1
1
Y Yang
00002532
-
-
-
NF2
-
1
1
Y Yang
00002533
-
-
-
NF2
-
1
1
Y Yang
00002534
-
-
-
NF2
-
1
1
Y Yang
00002535
-
-
-
NF2
-
1
1
Y Yang
00002536
-
-
-
NF2
-
1
1
Y Yang
00002537
-
-
-
NF2
-
1
1
Y Yang
00002538
-
-
-
NF2
-
1
1
Y Yang
00002539
-
-
-
NF2
-
1
1
Y Yang
00002540
-
-
-
NF2
-
1
1
Y Yang
00002541
-
-
-
NF2
-
1
1
Y Yang
00002542
-
-
-
NF2
-
1
1
Y Yang
00002543
-
-
-
NF2
-
1
1
Y Yang
00002544
-
-
-
NF2
-
1
1
Y Yang
00002545
-
-
-
NF2
-
1
1
Y Yang
00002546
-
-
-
NF2
-
1
1
Y Yang
00002547
-
-
-
NF2
-
1
1
Y Yang
00002548
-
-
-
NF2
-
1
1
Y Yang
00002549
-
-
-
NF2
-
1
1
Y Yang
00002550
-
-
-
NF2
-
1
1
Y Yang
00002551
-
-
-
NF2
-
1
1
Y Yang
00002552
-
-
-
NF2
-
1
1
Y Yang
00002553
-
-
-
NF2
-
1
1
Y Yang
00002554
-
-
-
NF2
-
1
1
Y Yang
00002555
-
-
-
NF2
-
1
1
Y Yang
00002556
-
-
-
NF2
-
1
1
Y Yang
00002557
-
-
-
NF2
-
1
1
Y Yang
00002558
-
-
-
NF2
-
1
1
Y Yang
00002559
-
-
-
NF2
-
1
1
Y Yang
00002560
-
-
-
NF2
-
1
1
Y Yang
00002561
-
-
-
NF2
-
1
1
Y Yang
00002562
-
-
-
NF2
-
1
1
Y Yang
00002563
-
-
-
NF2
-
1
1
Y Yang
00002564
-
-
-
NF2
-
1
1
Y Yang
00002565
-
-
-
NF2
-
1
1
Y Yang
00002566
Zirn B1, Arning L, Bartels I, Shoukier M, Hoffjan S, Neubauer B, Hahn A.(2012)
-
-
NF2
-
1
1
Y Yang
00002567
Yoo NJ1, Park SW, Lee SH.(2012)
-
-
NF2
-
1
1
Y Yang
00002568
Yoo NJ1, Park SW, Lee SH.(2012)
-
-
NF2
-
1
1
Y Yang
00002569
Yoo NJ1, Park SW, Lee SH.(2012)
-
-
NF2
-
1
1
Y Yang
00002570
Zemmoura I1, Vourc'h P, Paubel A, Parfait B, Cohen J, Bilan F, Kitzis A, Rousselot C, Parker F, Fran?ois P, Andres CR.(2014)
-
-
NF2
-
1
1
Y Yang
00002571
DiFrancesco JC1, Sestini R2, Cossu F3, Bolognesi M3, Sala E4, Mariani S5, Saracchi E1, Papi L2, Ferrarese C1.(2014)
-
-
NF2
-
1
1
Y Yang
00005694
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005695
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005696
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005697
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005698
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005699
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005700
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005701
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005702
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
00005703
Heineman TE et al. (2015)
-
-
NF2
-
1
1
XY Liu
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