All individuals with variants in gene VCP

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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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.

44 entries on 1 page. Showing entries 1 - 44.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00000682	Koppers M1, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M, van der Kooi AJ, van der Pol WL, Pasterkamp RJ(2012)	-	-	ALS	-	1	1	Y Yang
00000683	"Koppers M1, van Blitterswijk MM, Vlam L, Rowicka PA, van Vught PW, Groen EJ, Spliet WG, Engelen-Lee J, Schelhaas HJ, de Visser M, van der Kooi AJ, van der Pol WL, Pasterkamp RJ(2012)	-	-	ALS	-	1	1	Y Yang
00000770	"Ayaki T, Ito H, Fukushima H, Inoue T, Kondo T, Ikemoto A, Asano T, Shodai A, Fujita T, Fukui S, Morino H, Nakano S, Kusaka H, Yamashita H, Ihara M, Matsumoto R, Kawamata J(2014)	-	-	ALS	-	1	1	Y Yang
00001437	"Bersano A1, Del Bo R, Lamperti C, Ghezzi S, Fagiolari G, Fortunato F, Ballabio E, Moggio M, Candelise L, Galimberti D, Virgilio R, Lanfranconi S, Torrente Y, Carpo M, Comi GP(2009)	-	-	FTLD	-	1	1	Y Yang
00001438	Gidaro T1, Modoni A, Sabatelli M, Tasca G, Broccolini A, Mirabella M.(2008)	-	-	FTLD	-	1	1	Y Yang
00001439	Watts GD1, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE.(2007)	-	-	FTLD	-	1	1	Y Yang
00001440	Watts GD1, Thomasova D, Ramdeen SK, Fulchiero EC, Mehta SG, Drachman DA, Weihl CC, Jamrozik Z, Kwiecinski H, Kaminska A, Kimonis VE.(2007)	-	-	FTLD	-	1	1	Y Yang
00001441	Djamshidian A1, Schaefer J, Haubenberger D, Stogmann E, Zimprich F, Auff E, Zimprich A.(2009)	-	-	FTLD	-	1	1	Y Yang
00001442	Gitcho MA1, Strider J, Carter D, Taylor-Reinwald L, Forman MS, Goate AM, Cairns NJ.(2009)	-	-	FTLD	-	1	1	Y Yang
00001443	Gitcho MA1, Strider J, Carter D, Taylor-Reinwald L, Forman MS, Goate AM, Cairns NJ.(2009)	-	-	FTLD	-	1	1	Y Yang
00001444	Gitcho MA1, Strider J, Carter D, Taylor-Reinwald L, Forman MS, Goate AM, Cairns NJ.(2009)	-	-	FTLD	-	1	1	Y Yang
00001445	Gitcho MA1, Strider J, Carter D, Taylor-Reinwald L, Forman MS, Goate AM, Cairns NJ.(2009)	-	-	FTLD	-	1	1	Y Yang
00001446	Rohrer JD1, Warren JD, Reiman D, Uphill J, Beck J, Collinge J, Rossor MN, Isaacs AM, Mead S.(2011)	-	-	FTLD	-	1	1	Y Yang
00001462	Spina S1, Van Laar AD, Murrell JR, Hamilton RL, Kofler JK, Epperson F, Farlow MR, Lopez OL, Quinlan J, DeKosky ST, Ghetti B.(2013)	-	-	FTLD	-	1	1	Y Yang
00001463	Spina S1, Van Laar AD, Murrell JR, Hamilton RL, Kofler JK, Epperson F, Farlow MR, Lopez OL, Quinlan J, DeKosky ST, Ghetti B.(2013)	-	-	FTLD	-	1	1	Y Yang
00001464	Spina S1, Van Laar AD, Murrell JR, Hamilton RL, Kofler JK, Epperson F, Farlow MR, Lopez OL, Quinlan J, DeKosky ST, Ghetti B.(2013)	-	-	FTLD	-	1	1	Y Yang
00005322	Abrahao A et al. (2016)	Brazilian	-	ALS, FTLD	-	1	1	XY Liu
00005997	Poksay KS et al. (2011)	-	-	FTLD	-	1	1	XY Liu
00005998	Poksay KS et al. (2011)	-	-	FTLD	-	3	1	XY Liu
00006000	Kim EJ et al. (2011)	Korean	-	FTLD	-	1	1	XY Liu
00006004	Fanganiello RD et al. (2011)	Brazilian	-	FTLD	-	1	1	XY Liu
00006005	Kumar KR et al. (2011)	-	-	FTLD	-	1	1	XY Liu
00006006	Kumar KR et al. (2011)	-	-	FTLD	-	1	1	XY Liu
00006008	Palmio J et al. (2011)	Finnish	IBMPFD	FTLD	-	1	1	XY Liu
00006023	Tiloca C et al. (2012)	Italian	-	ALS	-	1	1	XY Liu
00006024	Tiloca C et al. (2012)	Italian	-	ALS, FTLD	-	1	1	XY Liu
00006025	Tiloca C et al. (2012)	Italian	-	ALS	-	1	1	XY Liu
00006026	Tiloca C et al. (2012)	Italian	-	ALS	-	1	1	XY Liu
00006027	Tiloca C et al. (2012)	Italian	-	ALS	-	1	1	XY Liu
00006034	Ponfick M et al. (2012)	German	-	FTLD	-	1	1	XY Liu
00006044	Gu JM et al. (2013)	Chinese	IBMPFD	FTLD	-	1	1	XY Liu
00006045	Arhzaouy K et al. (2012)	-	IBMPFD	FTLD	-	1	1	XY Liu
00006055	Igari R et al. (2013)	-	IBMPFD	FTLD	-	1	1	XY Liu
00006058	Komatsu J et al. (2013)	-	IBMPFD	FTLD	-	1	1	XY Liu
00006062	Jacquin A et al. (2013)	French	-	FTLD	-	1	1	XY Liu
00006095	Matsubara S et al. (2016)	-	-	FTLD	-	1	1	XY Liu
00006384	M DeJesus-Hernandez, P Desaro, A Johnston, O A Ross, Z K Wszolek, N Ertekin-Taner, N R Graff-Radford, R Rademakers, K Boylan (2011)	African American	-	ALS	-	1	1	XY Liu
00006411	Paloma González-Pérez, Elizabeth T Cirulli, Vivian E Drory, et al. (2012)	-	-	ALS	-	1	1	XY Liu
00006456	Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2015)	Japanese	-	ALS	-	1	1	XY Liu
00006472	Mari Segawa, Akihiko Hoshi, Hiroya Naruse, et al. (2015)	-	-	ALS	familial amyotrophic lateral sclerosis (ALS) associated with a familial dyslipidemia	1	1	XY Liu
00006494	Makito Hirano, et al. (2017)	-	-	ALS	started to have a typical form of ALS, followed by dementia 7 years later	1	1	XY Liu
00006495	Makito Hirano, et al. (2017)	-	-	ALS	had simultaneous ALS and dementia	1	1	XY Liu
00006603	Takashi Ando, et al. (2021)	Japanese	-	ALS, FTLD	-	1	1	XY Liu
00006604	Tomoyasu Matsubara, et al. (2021)	-	-	ALS	-	1	1	XY Liu

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

VCP (valosin containing protein)