NDDVD - Neurodegenerative Diseases Variation Database
TARDBP (TAR DNA binding protein)
LOVD v.3.0 Build 29 [
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Curator:
Y Yang
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All individuals with variants in gene TARDBP
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.
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Text
Arg
all entries containing 'Arg'
space
Text
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Text
Arg|Ser
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!
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.
129 entries on 2 pages. Showing entries 1 - 100.
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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00000582
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
-
-
ALS
-
1
1
Y Yang
00000583
"
Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N(2008)
-
-
ALS
-
1
1
Y Yang
00000584
"
Sreedharan J1, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A(2008)
-
-
ALS
-
1
1
Y Yang
00000585
"
Van Deerlin VM1, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL(2008)
-
-
ALS
-
1
1
Y Yang
00000586
"
Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N(2008)
-
-
ALS
-
1
1
Y Yang
00000587
"
Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N(2008)
-
-
ALS
-
1
1
Y Yang
00000588
"
Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N(2008)
-
-
ALS
-
1
1
Y Yang
00000589
"
Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N(2008)
-
-
ALS
-
1
1
Y Yang
00000590
"
Sreedharan J1, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A(2008)
-
-
ALS
-
1
1
Y Yang
00000591
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
-
-
ALS
-
1
1
Y Yang
00000592
"
Van Deerlin VM1, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL(2008)
-
-
ALS
-
1
1
Y Yang
00000593
"
Sreedharan J1, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A(2008)
-
-
ALS
-
1
1
Y Yang
00000594
"
Sreedharan J1, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A(2008)
-
-
ALS
-
1
1
Y Yang
00000595
"
Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N(2008)
-
-
ALS
-
1
1
Y Yang
00000596
Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera O.(2008)
-
-
ALS
-
1
1
Y Yang
00000597
"
Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N(2008)
-
-
ALS
-
1
1
Y Yang
00000598
"
Kabashi E1, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N(2008)
-
-
ALS
-
1
1
Y Yang
00000600
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
-
-
ALS
-
1
1
Y Yang
00000602
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
-
-
ALS
-
1
1
Y Yang
00000603
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
-
-
ALS
-
1
1
Y Yang
00000604
Guerreiro RJ1, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ.(2008)
-
-
ALS
-
1
1
Y Yang
00000700
Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
Taiwanese
-
ALS
-
1
1
Y Yang
00000701
Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
Taiwanese
-
ALS
-
1
1
Y Yang
00000702
Huang R, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
Chinese
-
ALS
-
1
1
Y Yang
00000703
Huang R, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
Chinese
-
ALS
-
1
1
Y Yang
00000704
Huang R, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
Chinese
-
ALS
-
1
1
Y Yang
00000705
Orrù S, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, Petersen MB.(2012)
Sardinian
-
ALS
-
1
1
Y Yang
00000707
Borghero G, Floris G, Cannas A, Marrosu MG, Murru MR, Costantino E, Parish LD, Pugliatti M, Ticca A, Traynor BJ, Calvo A, Cammarosano S, Moglia C, Cistaro A, Brunetti M (2011)
-
-
ALS, FTLD, PD
-
1
1
Y Yang
00000708
Mosca L, Lunetta C, Tarlarini C, Avemaria F, Maestri E, Melazzini M, Corbo M, Penco S. (2012)
-
-
ALS, FTLD, PD
-
1
1
Y Yang
00000709
Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012)
Chinese
-
ALS
-
1
1
Y Yang
00000710
Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012)
Chinese
-
ALS
-
1
1
Y Yang
00000711
Zou ZY1, Peng Y, Wang XN, Liu MS, Li XG, Cui LY.(2012)
Chinese
-
ALS
-
1
1
Y Yang
00000713
Jochen H Weishaupt, Stefan Waibel, Anna Birve, Alexander E Volk, Benjamin Mayer, Thomas Meyer, Albert C Ludolph, Peter M Andersen (2013)
Germany
-
ALS
-
1
1
Y Yang
00000715
Homma T, Nagaoka U, Kawata A, Mochizuki Y, Kawakami H, Maruyama H, Matsubara S, Komori T.(2014)
Japanese
-
ALS
-
1
1
Y Yang
00000720
Chiang HH, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C. (2012)
Nordic
-
ALS
-
2
1
Y Yang
00000721
Chiang HH, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C. (2012)
Nordic
-
ALS, FTLD
-
1
1
Y Yang
00000722
Solski JA1, Yang S, Nicholson GA, Luquin N, Williams KL, Fernando R, Pamphlett R, Blair IP.(2012)
-
-
ALS
-
1
1
Y Yang
00000723
Fujita Y, Ikeda M, Yanagisawa T, Senoo Y, Okamoto K.(2011)
-
-
ALS
-
1
1
Y Yang
00000795
Borghero G, Pugliatti M, Marrosu F, et al. (2014)
Sardinian
-
ALS
-
1
1
Y Yang
00000796
Borghero G, Pugliatti M, Marrosu F, et al. (2014)
Sardinian
-
ALS
-
1
1
Y Yang
00000797
Vrabec K1, Koritnik B2, Leonardis L2, Dolenc-Gro?elj L2, Zidar J2, Smith B3, Vance C3, Shaw C3, Rogelj B4, Glava? D1, Ravnik-Glava? M5.(2015)
Slovenian
-
ALS
-
1
1
Y Yang
00001416
"
Benajiba L1, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfier V, Camu W, Dubois B(2009)
-
-
FTLD
-
1
1
Y Yang
00001417
Kovacs GG1, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S.(2009)
-
-
FTLD
-
1
1
Y Yang
00001418
Borroni B1, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti A, Stuani C, Di Luca M, Gennarelli M, Padovani A.(2009)
-
-
FTLD
-
1
1
Y Yang
00001420
Gallone S1, Giordana MT, Scarpini E, Rainero I, Rubino E, Fenoglio P, Galimberti D, Grifoni S, Venturelli E, Acutis PL, Peletto S, Maniaci MG, Ferrero P, Zotta M, Pinessi L.(2009)
-
-
FTLD
-
1
1
Y Yang
00001421
Borroni B1, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Pietro Comi G, Gennarelli M, Padovani A.(2010)
-
-
FTLD
-
1
1
Y Yang
00001422
Borroni B1, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Pietro Comi G, Gennarelli M, Padovani A.(2010)
-
-
FTLD
-
1
1
Y Yang
00001424
"
Benajiba L1, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfier V, Camu W, Dubois B(2009)
-
-
FTLD
-
1
1
Y Yang
00001425
Kovacs GG1, Murrell JR, Horvath S, Haraszti L, Majtenyi K, Molnar MJ, Budka H, Ghetti B, Spina S.(2009)
-
-
FTLD
-
1
1
Y Yang
00001426
Borroni B1, Bonvicini C, Alberici A, Buratti E, Agosti C, Archetti S, Papetti A, Stuani C, Di Luca M, Gennarelli M, Padovani A.(2009)
-
-
FTLD
-
1
1
Y Yang
00001428
Borroni B1, Archetti S, Del Bo R, Papetti A, Buratti E, Bonvicini C, Agosti C, Cosseddu M, Turla M, Di Lorenzo D, Pietro Comi G, Gennarelli M, Padovani A.(2010)
-
-
FTLD
-
1
1
Y Yang
00001465
Quadri M1, Cossu G, Saddi V, Simons EJ, Murgia D, Melis M, Ticca A, Oostra BA, Bonifati V.(2011)
Italy
-
FTLD
-
1
1
Y Yang
00005219
Mandich P et al. (2015)
-
-
ALS
-
1
1
XY Liu
00005257
Ju X et al. (2016)
Chinese
-
ALS
-
1
1
XY Liu
00005258
Ju X et al. (2016)
Chinese
-
ALS
-
1
1
XY Liu
00005381
McCann EP et al. (2017)
Australian
-
ALS
-
1
1
XY Liu
00005382
McCann EP et al. (2017)
Australian
-
ALS
-
1
1
XY Liu
00005383
McCann EP et al. (2017)
Australian
-
ALS
-
1
1
XY Liu
00005384
McCann EP et al. (2017)
Australian
-
ALS
-
1
1
XY Liu
00005553
Orrù S et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00006030
Chiang HH, Andersen PM, Tysnes OB, Gredal O, Christensen PB, Graff C. (2012)
Nordic
-
ALS
-
1
1
XY Liu
00006075
Floris G et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00006261
Peter Kühnlein, Anne-Dorte Sperfeld, Ben Vanmassenhove, et al.
Germany
-
ALS
-
1
1
XY Liu
00006262
Peter Kühnlein, Anne-Dorte Sperfeld, Ben Vanmassenhove, et al.
Germany
-
ALS
-
1
1
XY Liu
00006263
Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
-
-
ALS
-
1
1
XY Liu
00006264
Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
-
-
ALS
-
1
1
XY Liu
00006265
Nicola J Rutherford, Yong-Jie Zhang, Matt Baker, et al.
-
-
ALS
-
1
1
XY Liu
00006270
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006271
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006272
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006273
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006274
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006275
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006276
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006277
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006278
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006279
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006280
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006281
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006282
Lucia Corrado, A Ratti, C Gellera, E Buratti, et al.
Italian
-
ALS
-
1
1
XY Liu
00006283
R Lemmens, V Race, N Hersmus, G Matthijs, L Van Den Bosch, P Van Damme, B Dubois, S Boonen, A Goris, W Robberecht
-
-
ALS
-
1
1
XY Liu
00006284
Masaki Kamada, Hirofumi Maruyama, Eiji Tanaka, et al.
Japanese
-
ALS
-
1
1
XY Liu
00006295
K L Williams, J C Durnall, A D Thoeng, S T Warraich, G A Nicholson, I P Blair
Australian
-
ALS
-
1
1
XY Liu
00006303
Hui-Ling Xiong, Jin-Yang Wang, Yi-Min Sun, Jian-Jun Wu, Yan Chen, Kai Qiao, Qiao-Juan Zheng, Gui-Xian Zhao, Zhi-Ying Wu
Chinese
-
ALS
-
1
1
XY Liu
00006304
Hui-Ling Xiong, Jin-Yang Wang, Yi-Min Sun, Jian-Jun Wu, Yan Chen, Kai Qiao, Qiao-Juan Zheng, Gui-Xian Zhao, Zhi-Ying Wu
Chinese
-
ALS
-
1
1
XY Liu
00006305
Hui-Ling Xiong, Jin-Yang Wang, Yi-Min Sun, Jian-Jun Wu, Yan Chen, Kai Qiao, Qiao-Juan Zheng, Gui-Xian Zhao, Zhi-Ying Wu
Chinese
-
ALS
-
1
1
XY Liu
00006306
Hui-Ling Xiong, Jin-Yang Wang, Yi-Min Sun, Jian-Jun Wu, Yan Chen, Kai Qiao, Qiao-Juan Zheng, Gui-Xian Zhao, Zhi-Ying Wu
Chinese
-
ALS
-
1
1
XY Liu
00006321
Akira Tamaoka, Makoto Arai, Masanari Itokawa, et al.
Japanese
-
ALS
-
1
1
XY Liu
00006344
Ichiro Nozaki, Makoto Arai, Kazuya Takahashi, et al.
-
-
ALS
-
1
1
XY Liu
00006349
Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al.
-
-
ALS
-
1
1
XY Liu
00006350
Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al.
-
-
ALS
-
1
1
XY Liu
00006358
Aritoshi Iida, Tetsumasa Kamei, Motoki Sano, Shuichi Oshima, Torao Tokuda, Yusuke Nakamura, Shiro Ikegawa
Japanese
-
ALS
-
1
1
XY Liu
00006359
Adriano Chiò, Andrea Calvo, Cristina Moglia, et al.
-
-
ALS, FTLD
-
1
1
XY Liu
00006360
Huang R, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
Chinese
-
ALS
-
1
1
XY Liu
00006361
Huang R, Fang DF, Ma MY, Guo XY, Zhao B, Zeng Y, Zhou D, Yang Y, Shang HF.(2012)
Chinese
-
ALS
-
1
1
XY Liu
00006369
Adriano Chiò, Giuseppe Borghero, Maura Pugliatti, et al.
Sardinian
-
ALS
-
1
1
XY Liu
00006385
Fujita Y, Ikeda M, Yanagisawa T, Senoo Y, Okamoto K.(2011)
-
-
ALS, PD
-
1
1
XY Liu
00006395
Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. (2012)
Sardinian
-
ALS, FTLD
-
1
1
XY Liu
00006396
Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al. (2012)
Sardinian
-
ALS
-
1
1
XY Liu
00006416
D Czell, P M Andersen, M Morita, C Neuwirth, F Perren, M Weber (2013)
Swiss
-
ALS
-
1
1
XY Liu
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