All individuals with variants in gene ATP7B

Legend

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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.

164 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
00001496	Bull PC1, Thomas GR, Rommens JM, Forbes JR, Cox DW.(1993)	-	-	WD	-	1	1	Y Yang
00001497	Tanzi RE1, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al.(1993)	-	-	WD	-	1	1	Y Yang
00001498	Thomas GR1, Forbes JR, Roberts EA, Walshe JM, Cox DW.(1995)	-	-	WD	-	1	1	Y Yang
00001499	Tanzi RE1, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al.(1993)	-	-	WD	-	1	1	Y Yang
00001500	Tanzi RE1, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al.(1993)	-	-	WD	-	1	1	Y Yang
00001501	Tanzi RE1, Petrukhin K, Chernov I, Pellequer JL, Wasco W, Ross B, Romano DM, Parano E, Pavone L, Brzustowicz LM, et al.(1993)	-	-	WD	-	1	1	Y Yang
00001502	Thomas GR1, Forbes JR, Roberts EA, Walshe JM, Cox DW.(1995)	-	-	WD	-	1	1	Y Yang
00001503	Kim EK1, Yoo OJ, Song KY, Yoo HW, Choi SY, Cho SW, Hahn SH.(1998)	-	-	WD	-	1	1	Y Yang
00001504	Loudianos G1, Dessi V, Lovicu M, Angius A, Figus A, Lilliu F, De Virgiliis S, Nurchi AM, Deplano A, Moi P, Pirastu M, Cao A.(1999)	-	-	WD	-	1	1	Y Yang
00001505	Kusuda Y1, Hamaguchi K, Mori T, Shin R, Seike M, Sakata T.(2000)	-	-	WD	-	1	1	Y Yang
00001506	Figus A1, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, et al.(1995)	-	-	WD	-	1	1	Y Yang
00001507	Thomas GR1, Forbes JR, Roberts EA, Walshe JM, Cox DW.(1995)	-	-	WD	-	1	1	Y Yang
00001508	Takeshita Y1, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, Aoki T.(2002)	-	-	WD	-	1	1	Y Yang
00001509	Takeshita Y1, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, Aoki T.(2002)	-	-	WD	-	1	1	Y Yang
00001510	Takeshita Y1, Shimizu N, Yamaguchi Y, Nakazono H, Saitou M, Fujikawa Y, Aoki T.(2002)	-	-	WD	-	1	1	Y Yang
00001511	Thomas GR1, Forbes JR, Roberts EA, Walshe JM, Cox DW.(1995)	-	-	WD	-	1	1	Y Yang
00001512	Figus A1, Angius A, Loudianos G, Bertini C, Dessi V, Loi A, Deiana M, Lovicu M, Olla N, Sole G, et al.(1995)	-	-	WD	-	1	1	Y Yang
00001513	Pendlebury ST1, Rothwell PM, Dalton A, Burton EA.(2004)	-	-	WD	-	1	1	Y Yang
00001514	Margarit E1, Bach V, Gómez D, Bruguera M, Jara P, Queralt R, Ballesta F.(2005)	-	-	WD	-	1	1	Y Yang
00001515	Dedoussis GV1, Genschel J, Sialvera TE, Bochow B, Manolaki N, Manios Y, Tsafantakis E, Schmidt H.(2005)	-	-	WD	-	1	1	Y Yang
00001516	Dedoussis GV1, Genschel J, Sialvera TE, Bochow B, Manolaki N, Manios Y, Tsafantakis E, Schmidt H.(2005)	-	-	WD	-	1	1	Y Yang
00001517	Dedoussis GV1, Genschel J, Sialvera TE, Bochow B, Manolaki N, Manios Y, Tsafantakis E, Schmidt H.(2005)	-	-	WD	-	1	1	Y Yang
00001518	García-Villarreal L1, Daniels S, Shaw SH, Cotton D, Galvin M, Geskes J, Bauer P, Sierra-Hernández A, Buckler A, Tugores A.(2000)	-	-	WD	-	1	1	Y Yang
00001519	Barada K, Nemer G, ElHajj II, Touma J, Cortas N, Boustany RM, Usta J.(2007)	-	-	WD	-	1	1	Y Yang
00001520	Wu Z1, Wang N, Murong S, Lin M.(1999)	-	-	WD	-	1	1	Y Yang
00001521	Shimizu N1, Nakazono H, Takeshita Y, Ikeda C, Fujii H, Watanabe A, Yamaguchi Y, Hemmi H, Shimatake H, Aoki T.(1999)	-	-	WD	-	1	1	Y Yang
00001522	Okada T1, Morise T, Takeda Y, Mabuchi H.(2000)	-	-	WD	-	1	1	Y Yang
00001523	Okada T1, Shiono Y, Hayashi H, Satoh H, Sawada T, Suzuki A, Takeda Y, Yano M, Michitaka K, Onji M, Mabuchi H.(2000)	-	-	WD	-	1	1	Y Yang
00001524	Kobayashi S1, Ochiai T, Hori S, Suzuki T, Shimizu T, Gunji Y, Shimada H, Yamamoto S, Ogawa A, Kohno Y, Sunaga M, Shimazu M, Tanaka K.(2001)	-	-	WD	-	1	1	Y Yang
00001525	Majumdar R1, Al Jumah M, Fraser M.(2003)	-	-	WD	-	1	1	Y Yang
00001526	Battisti C1, Dotti MT, Loudianos G, Dessì V, Battistini S, Amato T, Rufa A, Federico A.(2004)	-	-	WD	-	1	1	Y Yang
00001527	Velez-Pardo C1, Rio MJ, Moreno S, Ramírez-Gomez L, Correa G, Lopera F.(2004)	-	-	WD	-	1	1	Y Yang
00001528	Prasad R, Kaur G, Kumar S, Ram Thapa B.(2005)	-	-	WD	-	1	1	Y Yang
00001529	Prasad R, Kaur G, Kumar S, Ram Thapa B.(2005)	-	-	WD	-	1	1	Y Yang
00001530	Loudianos G1, Kostic V, Solinas P, Lovicu M, Dessì V, Svetel M, Major T, Cao A.(2003)	-	-	WD	-	1	1	Y Yang
00001531	Loudianos G1, Kostic V, Solinas P, Lovicu M, Dessì V, Svetel M, Major T, Cao A.(2003)	-	-	WD	-	1	1	Y Yang
00001532	Loudianos G1, Kostic V, Solinas P, Lovicu M, Dessì V, Svetel M, Major T, Cao A.(2003)	-	-	WD	-	1	1	Y Yang
00001533	Folhoffer A1, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.(2007)	-	-	WD	-	1	1	Y Yang
00001534	Folhoffer A1, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.(2007)	-	-	WD	-	1	1	Y Yang
00001535	Folhoffer A1, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.(2007)	-	-	WD	-	1	1	Y Yang
00001536	Folhoffer A1, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.(2007)	-	-	WD	-	1	1	Y Yang
00001537	Folhoffer A1, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.(2007)	-	-	WD	-	1	1	Y Yang
00001538	Folhoffer A1, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.(2007)	-	-	WD	-	1	1	Y Yang
00001539	Folhoffer A1, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.(2007)	-	-	WD	-	1	1	Y Yang
00001540	Folhoffer A1, Ferenci P, Csak T, Horvath A, Hegedus D, Firneisz G, Osztovits J, Kosa JP, Willheim-Polli C, Szonyi L, Abonyi M, Lakatos PL, Szalay F.(2007)	-	-	WD	-	1	1	Y Yang
00001541	Sundaresan S1, Eapen CE, Shaji RV, Chandy M, Kurian G, Chandy G.(2007)	-	-	WD	-	1	1	Y Yang
00001542	Machado AA1, Deguti MM, Genschel J, Can?ado EL, Bochow B, Schmidt H, Barbosa ER.(2008)	-	-	WD	-	1	1	Y Yang
00001543	Loudianos G1, Dessì V, Angius A, Lovicu M, Loi A, Deiana M, Akar N, Vajro P, Figus A, Cao A, Pirastu M.(1996)	-	-	WD	-	1	1	Y Yang
00001544	"{PMIDNakayama K1, Kubota M, Katoh Y, Sawada Y, Saito A, Nishimura K, Katsura E, Ichihara N, Suzuki T, Kouguchi H, Tamura M, Honma H, Kanzaki S, Itami H, Ohtake A, Kobayashi K(2008):18424137}	-	-	WD	-	1	1	Y Yang
00001545	Kim GH1, Yang JY, Park JY, Lee JJ, Kim JH, Yoo HW.(2008)	-	-	WD	-	1	1	Y Yang
00001546	Li XH1, Lu Y, Ling Y, Fu QC, Xu J, Zang GQ, Zhou F, De-Min Y, Han Y, Zhang DH, Gong QM, Lu ZM, Kong XF, Wang JS, Zhang XX.(2011)	-	-	WD	-	1	1	Y Yang
00001547	Lee BH1, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, Park JY, Kim GH, Choi JH, Kim KM, Yoo HW.(2011)	-	-	WD	-	1	1	Y Yang
00001548	Lee BH1, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, Park JY, Kim GH, Choi JH, Kim KM, Yoo HW.(2011)	-	-	WD	-	1	1	Y Yang
00001549	Lee BH1, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, Park JY, Kim GH, Choi JH, Kim KM, Yoo HW.(2011)	-	-	WD	-	1	1	Y Yang
00001550	Lee BH1, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, Park JY, Kim GH, Choi JH, Kim KM, Yoo HW.(2011)	-	-	WD	-	1	1	Y Yang
00001551	"Lepori MB1, Zappu A, Incollu S, Dessì V, Mameli E, Demelia L, Nurchi AM, Gheorghe L, Maggiore G, Sciveres M, Leuzzi V, Indolfi G, Bonafé L, Casali C, Angeli P, Barone P(2012)	-	-	WD	-	1	1	Y Yang
00001552	Iacob R1, Iacob S, Nastase A, Vagu C, Ene AM, Constantinescu A, Anghel D, Banica C, Paslaru L, Coriu D, Dima S, Gheorghe C, Ionica E, Gheorghe L.(2012)	Romanian	-	WD	-	1	1	Y Yang
00001553	Geng J1, Wang J, Yao RE, Liu XQ, Fu QH.(2013)	-	-	WD	-	1	1	Y Yang
00001554	Geng J1, Wang J, Yao RE, Liu XQ, Fu QH.(2013)	-	-	WD	-	1	1	Y Yang
00001555	Geng J1, Wang J, Yao RE, Liu XQ, Fu QH.(2013)	-	-	WD	-	1	1	Y Yang
00001556	Usta J1, Abu Daya H, Halawi H, Al-Shareef I, El-Rifai O, Malli AH, Sharara AI, Habib RH, Barada K.(2012)	-	-	WD	-	1	1	Y Yang
00001557	Usta J1, Abu Daya H, Halawi H, Al-Shareef I, El-Rifai O, Malli AH, Sharara AI, Habib RH, Barada K.(2012)	-	-	WD	-	1	1	Y Yang
00001558	Bem RS1, Raskin S, Muzzillo DA, Deguti MM, Can?ado EL, Araújo TF, Nakhle MC, Barbosa ER, Munhoz RP, Teive HA.(2013)	Brazil	-	WD	-	1	1	Y Yang
00001559	Bem RS1, Raskin S, Muzzillo DA, Deguti MM, Can?ado EL, Araújo TF, Nakhle MC, Barbosa ER, Munhoz RP, Teive HA.(2013)	Italy	-	WD	-	1	1	Y Yang
00001560	Bem RS1, Raskin S, Muzzillo DA, Deguti MM, Can?ado EL, Araújo TF, Nakhle MC, Barbosa ER, Munhoz RP, Teive HA.(2013)	Italy	-	WD	-	1	1	Y Yang
00001561	Chen L1, Li X2, Zheng Z3, Lu X1, Lin M1, Pan C1, Liu J4.(2014)	-	-	WD	-	1	1	Y Yang
00001562	Cheng N1, Wang X, Yu X, Zhou Z, Gao M, Rao R, Hu J, Yang R, Han Y.(2013)	-	-	WD	-	1	1	Y Yang
00001563	Cheng N1, Wang X, Yu X, Zhou Z, Gao M, Rao R, Hu J, Yang R, Han Y.(2013)	-	-	WD	-	1	1	Y Yang
00001564	Olsson KS1, W?linder O, Kindmark A, Williams R.(2012)	-	-	WD	-	1	1	Y Yang
00001565	Olsson KS1, W?linder O, Kindmark A, Williams R.(2012)	-	-	WD	-	1	1	Y Yang
00001566	Olsson KS1, W?linder O, Kindmark A, Williams R.(2012)	-	-	WD	-	1	1	Y Yang
00001567	Olsson KS1, W?linder O, Kindmark A, Williams R.(2012)	-	-	WD	-	1	1	Y Yang
00001568	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001569	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001570	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001571	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001572	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001573	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001574	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001575	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001576	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001577	Wang LH1, Huang YQ, Shang X, Su QX, Xiong F, Yu QY, Lin HP, Wei ZS, Hong MF, Xu XM.(2011)	Chinese	-	WD	-	1	1	Y Yang
00001578	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001579	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001580	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001581	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001582	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001583	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001584	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001585	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001586	Coco? R1, ?endroiu A2, Schipor S3, Boh?l?ea LC4, ?endroiu I2, Raicu F5.(2014)	-	-	WD	-	1	1	Y Yang
00001587	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang
00001588	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang
00001589	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang
00001590	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang
00001591	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang
00001592	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang
00001593	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang
00001594	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang
00001595	Wei Z1, Huang Y, Liu A, Diao S, Yu Q, Peng Z, Hong M.(2014)	China	-	WD	-	1	1	Y Yang

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NDDVD - Neurodegenerative Diseases Variation Database

ATP7B (ATPase, Cu++ transporting, beta polypeptide)