All individuals with variants in gene CLCN1

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.

107 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
00002380	Shalata A1, Furman H, Adir V, Adir N, Hujeirat Y, Shalev SA, Borochowitz ZU.(2010)	-	-	MC	-	1	1	Y Yang
00002381	Dupré N1, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J.(2009)	-	-	MC	-	1	1	Y Yang
00002382	Meyer-Kleine C1, Ricker K, Otto M, Koch MC.(1994)	-	-	MC	-	1	1	Y Yang
00002383	Koch MC1, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ.(1992)	-	-	MC	-	1	1	Y Yang
00002384	George AL Jr1, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC.(1993)	-	-	MC	-	1	1	Y Yang
00002385	Lorenz C1, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ.(1994)	-	-	MC	-	1	1	Y Yang
00002386	-	-	-	MC	-	1	1	Y Yang
00002387	Steinmeyer K1, Lorenz C, Pusch M, Koch MC, Jentsch TJ.(1994)	-	-	MC	-	1	1	Y Yang
00002388	Lehmann-Horn F1, Mail?nder V, Heine R, George AL.(1995)	-	-	MC	-	1	1	Y Yang
00002389	Lehmann-Horn F1, Mail?nder V, Heine R, George AL.(1995)	-	-	MC	-	1	1	Y Yang
00002390	Pusch M1, Steinmeyer K, Koch MC, Jentsch TJ.(1995)	-	-	MC	-	1	1	Y Yang
00002391	Meyer-Kleine C1, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC.(1995)	-	-	MC	-	1	1	Y Yang
00002392	Zhang J1, Sanguinetti MC, Kwiecinski H, Ptácek LJ.(2000)	-	-	MC	-	1	1	Y Yang
00002393	Nagamitsu S1, Matsuura T, Khajavi M, Armstrong R, Gooch C, Harati Y, Ashizawa T.(2000)	-	-	MC	-	1	1	Y Yang
00002394	Nagamitsu S1, Matsuura T, Khajavi M, Armstrong R, Gooch C, Harati Y, Ashizawa T.(2000)	-	-	MC	-	1	1	Y Yang
00002395	Pusch M1, Steinmeyer K, Koch MC, Jentsch TJ.(1995)	-	-	MC	-	1	1	Y Yang
00002396	Colding-J?rgensen E1, Dun? M, Schwartz M, Vissing J.(2003)	-	-	MC	-	1	1	Y Yang
00002397	Dupré N1, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J.(2009)	-	-	MC	-	1	1	Y Yang
00002398	Dupré N1, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J.(2009)	-	-	MC	-	1	1	Y Yang
00002399	Zhang J1, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ.(1996)	-	-	MC	-	1	1	Y Yang
00002400	Zhang J1, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ.(1996)	-	-	MC	-	1	1	Y Yang
00002401	Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998)	-	-	MC	-	1	1	Y Yang
00002402	Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998)	-	-	MC	-	1	1	Y Yang
00002403	Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998)	-	-	MC	-	1	1	Y Yang
00002404	Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998)	-	-	MC	-	1	1	Y Yang
00002405	Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998)	-	-	MC	-	1	1	Y Yang
00002406	Plassart-Schiess E1, Gervais A, Eymard B, Lagueny A, Pouget J, Warter JM, Fardeau M, Jentsch TJ, Fontaine B.(1998)	-	-	MC	-	1	1	Y Yang
00002407	Sangiuolo F1, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B.(1998)	-	-	MC	-	1	1	Y Yang
00002408	Sangiuolo F1, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B.(1998)	-	-	MC	-	1	1	Y Yang
00002409	Sangiuolo F1, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B.(1998)	-	-	MC	-	1	1	Y Yang
00002410	Sangiuolo F1, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B.(1998)	-	-	MC	-	1	1	Y Yang
00002411	Papponen H1, Toppinen T, Baumann P, Myllyl? V, Leisti J, Kuivaniemi H, Tromp G, Myllyl? R.(1999)	-	-	MC	-	1	1	Y Yang
00002412	de Diego C1, Gámez J, Plassart-Schiess E, Lasa A, Del Río E, Cervera C, Baiget M, Gallano P, Fontaine B.(1999)	-	-	MC	-	1	1	Y Yang
00002413	de Diego C1, Gámez J, Plassart-Schiess E, Lasa A, Del Río E, Cervera C, Baiget M, Gallano P, Fontaine B.(1999)	-	-	MC	-	1	1	Y Yang
00002414	de Diego C1, Gámez J, Plassart-Schiess E, Lasa A, Del Río E, Cervera C, Baiget M, Gallano P, Fontaine B.(1999)	-	-	MC	-	1	1	Y Yang
00002415	de Diego C1, Gámez J, Plassart-Schiess E, Lasa A, Del Río E, Cervera C, Baiget M, Gallano P, Fontaine B.(1999)	-	-	MC	-	1	1	Y Yang
00002416	Brugnoni R1, Galantini S, Confalonieri P, Balestrini MR, Cornelio F, Mantegazza R.(1999)	-	-	MC	-	1	1	Y Yang
00002417	Brugnoni R1, Galantini S, Confalonieri P, Balestrini MR, Cornelio F, Mantegazza R.(1999)	-	-	MC	-	1	1	Y Yang
00002418	Sasaki R1, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, Kuzuhara S, Uchino M, Tsuji S, Uyama E.(1999)	-	-	MC	-	1	1	Y Yang
00002419	Sasaki R1, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, Kuzuhara S, Uchino M, Tsuji S, Uyama E.(1999)	-	-	MC	-	1	1	Y Yang
00002420	Zhang J1, Bendahhou S, Sanguinetti MC, Ptácek LJ.(2000)	-	-	MC	-	1	1	Y Yang
00002421	Zhang J1, Bendahhou S, Sanguinetti MC, Ptácek LJ.(2000)	-	-	MC	-	1	1	Y Yang
00002422	Zhang J1, Bendahhou S, Sanguinetti MC, Ptácek LJ.(2000)	-	-	MC	-	1	1	Y Yang
00002423	Esteban J1, Neumeyer AM, McKenna-Yasek D, Brown RH.(1998)	-	-	MC	-	1	1	Y Yang
00002424	Sasaki R1, Ito N, Shimamura M, Murakami T, Kuzuhara S, Uchino M, Uyama E.(2001)	-	-	MC	-	1	1	Y Yang
00002425	Warnstedt M1, Sun C, Poser B, Escriva MJ, Tranebjaerg L, Torbergsen T, van Ghelue M, Fahlke C.(2002)	-	-	MC	-	1	1	Y Yang
00002426	"Wu FF1, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R(2002)	-	-	MC	-	1	1	Y Yang
00002427	"Wu FF1, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R(2002)	-	-	MC	-	1	1	Y Yang
00002428	"Wu FF1, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R(2002)	-	-	MC	-	1	1	Y Yang
00002429	"Wu FF1, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R(2002)	-	-	MC	-	1	1	Y Yang
00002430	"Wu FF1, Ryan A, Devaney J, Warnstedt M, Korade-Mirnics Z, Poser B, Escriva MJ, Pegoraro E, Yee AS, Felice KJ, Giuliani MJ, Mayer RF, Mongini T, Palmucci L, Marino M, Rüdel R(2002)	-	-	MC	-	1	1	Y Yang
00002431	Grunnet M1, Jespersen T, Colding-J?rgensen E, Schwartz M, Klaerke DA, Vissing J, Olesen SP, Dun? M.(2003)	-	-	MC	-	1	1	Y Yang
00002432	Jou SB1, Chang LI, Pan H, Chen PR, Hsiao KM.(2004)	-	-	MC	-	1	1	Y Yang
00002433	Jou SB1, Chang LI, Pan H, Chen PR, Hsiao KM.(2004)	-	-	MC	-	1	1	Y Yang
00002434	Jou SB1, Chang LI, Pan H, Chen PR, Hsiao KM.(2004)	-	-	MC	-	1	1	Y Yang
00002435	Jou SB1, Chang LI, Pan H, Chen PR, Hsiao KM.(2004)	-	-	MC	-	1	1	Y Yang
00002436	Kuo HC1, Hsiao KM, Chang LI, You TH, Yeh TH, Huang CC.(2006)	-	-	MC	-	1	1	Y Yang
00002437	Kuo HC1, Hsiao KM, Chang LI, You TH, Yeh TH, Huang CC.(2006)	-	-	MC	-	1	1	Y Yang
00002438	Burgunder JM1, Huifang S, Beguin P, Baur R, Eng CS, Seet RC, Lim EC, Ong BK, Hunziker W, Sigel E.(2008)	-	-	MC	-	1	1	Y Yang
00002439	Burgunder JM1, Huifang S, Beguin P, Baur R, Eng CS, Seet RC, Lim EC, Ong BK, Hunziker W, Sigel E.(2008)	-	-	MC	-	1	1	Y Yang
00002440	Burgunder JM1, Huifang S, Beguin P, Baur R, Eng CS, Seet RC, Lim EC, Ong BK, Hunziker W, Sigel E.(2008)	-	-	MC	-	1	1	Y Yang
00002441	Morales F1, Cuenca P, del Valle G, Vásquez M, Brian R, Sittenfeld M, Johnson K, Lin X, Ashizawa T.(2008)	-	-	MC	-	1	1	Y Yang
00002442	Moon IS1, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.(2009)	-	-	MC	-	1	1	Y Yang
00002443	Moon IS1, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.(2009)	-	-	MC	-	1	1	Y Yang
00002444	Moon IS1, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.(2009)	-	-	MC	-	1	1	Y Yang
00002445	Moon IS1, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.(2009)	-	-	MC	-	1	1	Y Yang
00002446	Moon IS1, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.(2009)	-	-	MC	-	1	1	Y Yang
00002447	Moon IS1, Kim HS, Shin JH, Park YE, Park KH, Shin YB, Bae JS, Choi YC, Kim DS.(2009)	-	-	MC	-	1	1	Y Yang
00002448	Lyons MJ1, Duron R, Molinero I, Sangiuolo F, Holden KR.(2010)	-	-	MC	-	1	1	Y Yang
00002449	Gao F1, Ma FC, Yuan ZF, Yang CW, Li HF, Xia ZZ, Shui QX, Jiang KW.(2010)	-	-	MC	-	1	1	Y Yang
00002450	Gao F1, Ma FC, Yuan ZF, Yang CW, Li HF, Xia ZZ, Shui QX, Jiang KW.(2010)	-	-	MC	-	1	1	Y Yang
00002451	Gao F1, Ma FC, Yuan ZF, Yang CW, Li HF, Xia ZZ, Shui QX, Jiang KW.(2010)	-	-	MC	-	1	1	Y Yang
00002452	Lorenz C1, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ.(1994)	-	-	MC	-	1	1	Y Yang
00002453	Sangiuolo F1, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B.(1998)	-	-	MC	-	1	1	Y Yang
00002454	Brugnoni R1, Galantini S, Confalonieri P, Balestrini MR, Cornelio F, Mantegazza R.(1999)	-	-	MC	-	1	1	Y Yang
00002455	McKay OM1, Krishnan AV, Davis M, Kiernan MC.(2006)	-	-	MC	-	1	1	Y Yang
00002456	Chen L1, Schaerer M, Lu ZH, Lang D, Joncourt F, Weis J, Fritschi J, Kappeler L, Gallati S, Sigel E, Burgunder JM.(2004)	-	-	MC	-	1	1	Y Yang
00002460	Sun C1, Van Ghelue M, Tranebj?rg L, Thyssen F, Nilssen ?, Torbergsen T.(2011)	-	-	MC	-	1	1	Y Yang
00002461	Mazón MJ1, Barros F, De la Pe?a P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.(2012)	Spanish	-	MC	-	1	1	Y Yang
00002462	Mazón MJ1, Barros F, De la Pe?a P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.(2012)	Spanish	-	MC	-	1	1	Y Yang
00002463	Mazón MJ1, Barros F, De la Pe?a P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.(2012)	Spanish	-	MC	-	1	1	Y Yang
00002464	Mazón MJ1, Barros F, De la Pe?a P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.(2012)	Spanish	-	MC	-	1	1	Y Yang
00002465	Mazón MJ1, Barros F, De la Pe?a P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.(2012)	Spanish	-	MC	-	1	1	Y Yang
00002466	Mazón MJ1, Barros F, De la Pe?a P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.(2012)	Spanish	-	MC	-	1	1	Y Yang
00002467	Mazón MJ1, Barros F, De la Pe?a P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.(2012)	Spanish	-	MC	-	1	1	Y Yang
00002468	Mazón MJ1, Barros F, De la Pe?a P, Quesada JF, Escudero A, Cobo AM, Pascual-Pascual SI, Gutiérrez-Rivas E, Guillén E, Arpa J, Eraso P, Portillo F, Molano J.(2012)	Spanish	-	MC	-	1	1	Y Yang
00002469	Nam TS1, Jung HJ, Choi SY, Kim YO, Kim MK, Cho KH.(2012)	-	-	MC	-	1	1	Y Yang
00002470	Richardson RC1, Tarleton JC, Bird TD, Gospe SM Jr.(2014)	-	-	MC	-	1	1	Y Yang
00002471	Richardson RC1, Tarleton JC, Bird TD, Gospe SM Jr.(2014)	-	-	MC	-	1	1	Y Yang
00002472	Lucchiari S1, Ulzi G, Magri F, Bucchia M, Corbetta F, Servida M, Moggio M, Comi GP, Lecchi M.(2013)	-	-	MC	-	1	1	Y Yang
00002473	Sasaki R1, Takahashi MP, Kokunai Y, Hirayama M, Ibi T, Tomimoto H, Mochizuki H, Sahashi K.(2013)	-	-	MC	-	1	1	Y Yang
00002474	Sasaki R1, Takahashi MP, Kokunai Y, Hirayama M, Ibi T, Tomimoto H, Mochizuki H, Sahashi K.(2013)	-	-	MC	-	1	1	Y Yang
00002475	Ratbi I1, Elalaoui SC, Escudero A, Kriouile Y, Molano J, Sefiani A.(2011)	-	-	MC	-	1	1	Y Yang
00002478	Furby A1, Vicart S2, Camdessanché JP3, Fournier E4, Chabrier S5, Lagrue E6, Paricio C7, Blondy P8, Touraine R9, Sternberg D8, Fontaine B10.(2014)	-	-	MC	-	1	1	Y Yang
00002479	Li HF1, Chen WJ, Ni W, Wu ZY.(2014)	-	-	MC	-	1	1	Y Yang
00002480	Li HF1, Chen WJ, Ni W, Wu ZY.(2014)	-	-	MC	-	1	1	Y Yang
00005638	Li HF et al. (2014)	-	-	MC	-	2	1	XY Liu
00005639	Imbrici P et al. (2015)	-	-	MC	-	1	1	XY Liu
00005640	Imbrici P et al. (2015)	-	-	MC	-	1	1	XY Liu
00005641	Imbrici P et al. (2015)	-	-	MC	-	2	1	XY Liu

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NDDVD - Neurodegenerative Diseases Variation Database

CLCN1 (chloride channel, voltage-sensitive 1)