All individuals with variants in gene MPZ

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.

52 entries on 1 page. Showing entries 1 - 52.

Legend

How to query

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00001729	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001730	Sabet A1, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F.(2006)	-	-	HMSN	-	1	1	Y Yang
00001731	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001732	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001733	Zschüntzsch J1, Dibaj P, Pilgram S, K?tting J, Gerding WM, Neusch C.(2009)	-	-	HMSN	-	1	1	Y Yang
00001734	Kilfoyle DH1, Dyck PJ, Wu Y, Litchy WJ, Klein DM, Dyck PJ, Kumar N, Cunningham JM, Klein CJ.(2006)	-	-	HMSN	-	1	1	Y Yang
00001735	Donaghy M1, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C.(2000)	-	-	HMSN	-	1	1	Y Yang
00001736	Nelis E1, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C.(1994)	-	-	HMSN	-	1	1	Y Yang
00001737	Nelis E1, Timmerman V, De Jonghe P, Muylle L, Martin JJ, Van Broeckhoven C.(1994)	-	-	HMSN	-	1	1	Y Yang
00001738	Hayasaka K1, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF.(1993)	-	-	HMSN	-	1	1	Y Yang
00001739	Hayasaka K1, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, Bird TD, Conneally PM, Chance PF.(1993)	-	-	HMSN	-	1	1	Y Yang
00001740	Roa BB1, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.(1996)	-	-	HMSN	-	1	1	Y Yang
00001741	Roa BB1, Warner LE, Garcia CA, Russo D, Lovelace R, Chance PF, Lupski JR.(1996)	-	-	HMSN	-	1	1	Y Yang
00001742	Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.(1996)	-	-	HMSN	-	1	1	Y Yang
00001743	Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.(1996)	-	-	HMSN	-	1	1	Y Yang
00001744	Rouger H, LeGuern E, Gouider R, Tardieu S, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A.(1996)	-	-	HMSN	-	1	1	Y Yang
00001745	Blanquet-Grossard F1, Pham-Dinh D, Dautigny A, Latour P, Bonnebouche C, Corbillon E, Chazot G, Vandenberghe A.(1995)	-	-	HMSN	-	1	1	Y Yang
00001746	Sorour E1, MacMillan J, Upadhyaya M.(1997)	-	-	HMSN	-	1	1	Y Yang
00001747	De Jonghe P1, Timmerman V, Ceuterick C, Nelis E, De Vriendt E, L?fgren A, Vercruyssen A, Verellen C, Van Maldergem L, Martin JJ, Van Broeckhoven C.(1999)	-	-	HMSN	-	1	1	Y Yang
00001748	Boerkoel CF1, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.(2002)	-	-	HMSN	-	1	1	Y Yang
00001749	Boerkoel CF1, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.(2002)	-	-	HMSN	-	1	1	Y Yang
00001750	Boerkoel CF1, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.(2002)	-	-	HMSN	-	1	1	Y Yang
00001751	Mastaglia FL1, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG.(1999)	-	-	HMSN	-	1	1	Y Yang
00001752	Misu K1, Yoshihara T, Shikama Y, Awaki E, Yamamoto M, Hattori N, Hirayama M, Takegami T, Nakashima K, Sobue G.(2000)	-	-	HMSN	-	1	1	Y Yang
00001753	Marrosu MG1, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F.(1998)	-	-	HMSN	-	1	1	Y Yang
00001754	Fabrizi GM1, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N.(2001)	-	-	HMSN	-	1	1	Y Yang
00001755	Fabrizi GM1, Taioli F, Cavallaro T, Rigatelli F, Simonati A, Mariani G, Perrone P, Rizzuto N.(2000)	-	-	HMSN	-	1	1	Y Yang
00001756	Umehara F1, Takenaga S, Nakagawa M, Takahashi K, Izumo S, Matsumuro K, Sakota S, Nishimura T, Yoshikawa H, Osame M.(1993)	-	-	HMSN	-	1	1	Y Yang
00001757	Leal A1, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schl?tzer-Schrehardt U, Neund?rfer B, Reis A, Rautenstrauss B, Heuss D.(2003)	-	-	HMSN	-	1	1	Y Yang
00001758	Auer-Grumbach M1, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.(2003)	-	-	HMSN	-	1	1	Y Yang
00001759	Auer-Grumbach M1, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K.(2003)	-	-	HMSN	-	1	1	Y Yang
00001760	Seeman P1, Mazanec R, Huehne K, Suslíková P, Keller O, Rautenstrauss B.(2004)	-	-	HMSN	-	1	1	Y Yang
00001761	Lee YC1, Yu CT, Lin KP, Chang MH, Hsu SL, Liu YF, Lu YC, Soong BW.(2008)	-	-	HMSN	-	1	1	Y Yang
00001762	Kabzińska D1, Korwin-Piotrowska T, Drechsler H, Drac H, Hausmanowa-Petrusewicz I, Kochański A.(2007)	-	-	HMSN	-	1	1	Y Yang
00001763	Fabrizi GM1, Pellegrini M, Angiari C, Cavallaro T, Morini A, Taioli F, Cabrini I, Orrico D, Rizzuto N.(2006)	-	-	HMSN	-	1	1	Y Yang
00001764	Ikegami T1, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K.(1996)	-	-	HMSN	-	1	1	Y Yang
00001765	Hayasaka K1, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N.(1993)	-	-	HMSN	-	1	1	Y Yang
00001766	Hayasaka K1, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N.(1993)	-	-	HMSN	-	1	1	Y Yang
00001767	Warner LE1, Shohat M, Shorer Z, Lupski JR.(1997)	-	-	HMSN	-	1	1	Y Yang
00001768	Warner LE1, Shohat M, Shorer Z, Lupski JR.(1997)	-	-	HMSN	-	1	1	Y Yang
00001769	Warner LE1, Shohat M, Shorer Z, Lupski JR.(1997)	-	-	HMSN	-	1	1	Y Yang
00001770	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001771	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001772	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001773	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001774	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001775	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001776	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00001777	Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Seeman P.(2010)	-	-	HMSN	-	1	1	Y Yang
00005604	Drac H et al. (2011)	-	-	HMSN	-	1	1	XY Liu
00005605	Drac H et al. (2011)	-	-	HMSN	-	1	1	XY Liu
00005623	Lupo V et al. (2015)	-	-	HMSN	-	1	1	XY Liu

Legend

How to query

NDDVD - Neurodegenerative Diseases Variation Database

MPZ (myelin protein zero)