All individuals with variants in gene ATP7A

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.

163 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	Reference	Ethnic origin	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00002221	Kaler SG1, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA.(1994)	-	-	MK	-	1	1	Y Yang
00002222	M?ller LB1, Tümer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N.(2000)	-	-	MK	-	1	1	Y Yang
00002223	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002224	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002225	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002226	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002227	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002228	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002229	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002230	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002231	Ogawa A1, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y.(1999)	-	-	MK	-	1	1	Y Yang
00002232	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002233	Watanabe A1, Shimizu N.(2005)	-	-	MK	-	1	1	Y Yang
00002234	Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010)	-	-	MK	-	1	1	Y Yang
00002235	Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010)	-	-	MK	-	1	1	Y Yang
00002236	Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010)	-	-	MK	-	1	1	Y Yang
00002237	Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010)	-	-	MK	-	1	1	Y Yang
00002238	Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010)	-	-	MK	-	1	1	Y Yang
00002239	Moizard MP1, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, Mortemousque I, Marmin N, Dessay B, Danesino C, Feillet F, Castelnau P, Toutain A, Moraine C, Raynaud M.(2010)	-	-	MK	-	1	1	Y Yang
00002240	Gérard-Blanluet M, Birk-M?ller L, Caubel I, Gélot A, Billette de Villemeur T, Horn N.(2004)	-	-	MK	-	1	1	Y Yang
00002241	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002242	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002243	Jankov RP1, Boerkoel CF, Hellmann J, Sirkin WL, Tümer Z, Horn N, Feigenbaum A.(1998)	-	-	MK	-	1	1	Y Yang
00002244	Kim BE1, Smith K, Meagher CK, Petris MJ.(2002)	-	-	MK	-	1	1	Y Yang
00002245	Kaler SG1, Tang J, Donsante A, Kaneski CR.(2009)	-	-	MK	-	1	1	Y Yang
00002246	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002247	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002248	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002249	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002250	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002251	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002252	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002253	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002254	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002255	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002256	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002257	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002258	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002259	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002260	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002261	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002262	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002263	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002264	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002265	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002266	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002267	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002268	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002269	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002270	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002271	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002272	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002273	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002274	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002275	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002276	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002277	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002278	Tümer Z1, Lund C, Tolshave J, Vural B, T?nnesen T, Horn N.(1997)	-	-	MK	-	1	1	Y Yang
00002279	Ogawa A1, Yamamoto S, Takayanagi M, Kogo T, Kanazawa M, Kohno Y.(1999)	-	-	MK	-	1	1	Y Yang
00002280	Ogawa A1, Yamamoto S, Kanazawa M, Ogawa E, Takayanagi M, Hasegawa S, Kohno Y.(2000)	-	-	MK	-	1	1	Y Yang
00002281	Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001)	-	-	MK	-	1	1	Y Yang
00002282	Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001)	-	-	MK	-	1	1	Y Yang
00002283	Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001)	-	-	MK	-	1	1	Y Yang
00002284	Hahn S1, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo O.(2001)	-	-	MK	-	1	1	Y Yang
00002285	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002286	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002287	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002288	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002289	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002290	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002291	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002292	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002293	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002294	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002295	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002296	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002297	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002298	Gu YH1, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, Shiba T, Lee CC.(2001)	-	-	MK	-	1	1	Y Yang
00002299	Zhang LP1, Lü JL, Wang XH, Zou LP.(2008)	-	-	MK	-	1	1	Y Yang
00002300	Park HD1, Moon HK, Lee J, Lee M, Lee SY, Kim JW, Ki CS.(2009)	-	-	MK	-	1	1	Y Yang
00002301	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002302	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002303	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002304	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002305	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002306	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002307	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002308	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002309	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002310	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002311	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002312	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002313	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002314	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002315	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002316	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002317	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002318	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002319	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang
00002320	M?ller LB1, Bukrinsky JT, M?lgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.(2005)	-	-	MK	-	1	1	Y Yang

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

NDDVD - Neurodegenerative Diseases Variation Database

ATP7A (ATPase, Cu++ transporting, alpha polypeptide)