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.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

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.

714 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00029638	-	-	-	F	no	Belgium	white	-	-	-	-	BRGDA, myotonia congenita (AR)	-	1	1	Uschi Peeters
00035246	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Morbus Thompson or Morbus Becker, Myotonia congenita; MGZ #71205:since childhood initial difficulties after period of rest, stiffness of the tongue	1	1	Andreas Laner
00035247	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita in early childhood; mother, uncle, aunt and the maternal aunt`s children: clinical diagnosis of myotonia congenita	1	1	Andreas Laner
00035248	-	-	-	-	-	Germany	-	-	-	-	-	?	clinical diagnosis of Myotonia congenita	1	1	Andreas Laner
00035249	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia (clinical: mild myotonia congenita)	1	1	Andreas Laner
00035250	-	-	-	-	-	Germany	-	-	-	-	-	?	Myotonia congenita Thomsen, muscle stiffness	1	1	Andreas Laner
00035251	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035252	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia; family history: father could also be affected	1	1	Andreas Laner
00035253	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035254	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita: since childhood med. muscle stiffness (espec. during pregnancy),Faustöffnungsmyotonie, warm-up phenomena positive ; FA: great-grandparents are brothers and sisters, 1 brother could also be affected	1	1	Andreas Laner
00035255	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected paramyotonia congenita Eulenburg	1	1	Andreas Laner
00035256	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	muscle stiffness and muscle pain	1	1	Andreas Laner
00035257	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia congenita	1	1	Andreas Laner
00035258	-	-	-	-	-	Germany	-	-	-	-	-	?	genetical HypoPP	1	1	Andreas Laner
00035259	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035260	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035261	-	-	-	-	-	Germany	-	-	-	-	-	?	MGZ #: 43002suspected Chloridchannel-myotonia; MGZ #55791: suspected Myotonia congenita; MGZ #: muscle stiffness, warmup-phenomena, sister has the same symptoms; MGZ #74626: muscle hypertrophy, myotonia	1	1	Andreas Laner
00035262	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia congenita?	1	1	Andreas Laner
00035263	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035264	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita Becker; father of index: suspected myotonia	1	1	Andreas Laner
00035265	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia congenita?	1	1	Andreas Laner
00035266	-	-	-	-	-	Germany	-	-	-	-	-	?	dorsal flexor of the foot-weakness bilateral, stumbling, warming Up phenomena with handshake, walking and climbing stairs	1	1	Andreas Laner
00035267	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035268	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035269	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035270	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035271	-	-	-	-	-	Germany	-	-	-	-	-	?	milde proximal myasthenia, CK 460 U/l, suspected autosomal dominant mode of inheritance; mother, her brothers and sisters and maternal grand-mother were affected	1	1	Andreas Laner
00035272	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035273	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected congenital myotonia, stiffness with initial difficulties to stand up, CK-Increase; development normally	1	1	Andreas Laner
00035274	-	-	-	-	-	Germany	-	-	-	-	-	?	myotonia congenita Thomsen?	1	1	Andreas Laner
00035275	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected congenital myotonia, stiffness with initial difficulties during getting up, CK-Increase; development normally	1	1	Andreas Laner
00035276	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035277	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035278	-	-	-	-	-	Germany	-	-	-	-	-	?	clinically:myotonia (percussion myotonia),mother and maternal grand-mother also affected	1	1	Andreas Laner
00035279	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita Becker	1	1	Andreas Laner
00035280	-	-	-	-	-	Germany	-	-	-	-	-	?	clinically:myotonia (percussion myotonia),mother and maternal grand-mother also affected	1	1	Andreas Laner
00035281	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035282	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Von-Hippel-Lindau syndrome, suspected myotonia congenita Thomsen/ Becker,status post renal cell-Ca, 2 brothers and father also affected (myotonia congenita)	1	1	Andreas Laner
00035283	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035284	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035285	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035286	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035287	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035288	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035289	-	-	-	-	-	Germany	-	-	-	-	-	?	MGZ #52450: suspected Becker-myotonia; MGZ #71657: Myotonia congenita Thomsen, muscle stiffness; MGZ #73330: son with myotonia congenita and unclassified variants in the CLCN1 gene; MGZ #65873: suspected myotonia congenita type Thomsen (autosomal-dominant)	1	1	Andreas Laner
00035290	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035291	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035292	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Becker-myotonia;	1	1	Andreas Laner
00035293	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035294	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myotonia congenita;family history positive (son), myotonic symptoms, abatement of Mexiletin	1	1	Andreas Laner
00046513	-	PubMed: Chen 2013, Journal: Chen 2013	2-generation family, only child of healthy, unrelated parents	F	no	Italy	-	>26y	-	-	-	EIG	see paper; neurologic phenotype of generalized pharmacoresistant epilepsy with mixed seizure types, mild myotonic features, ...	2	1	Johan den Dunnen
00046514	M01	PubMed: Modoni 2011, Journal: Modoni 2011	-	-	-	(Italy)	-	-	-	-	-	myotonia congenita (AD)	see paper; transitory depression elictited 3 Hz RNS -57, ...	2	1	Johan den Dunnen
00080752	-	-	-	F	yes	Morocco	-	-	-	-	-	myotonia congenita (AD)	Muscular hypertrophy. Warm up	1	3	Carmen Palma
00080894	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Myotonia congenita, recessive (OMIM:255700)	1	1	Daniel Trujillano
00081448	-	-	-	M	no	Spain	-	-	-	yes	-	myotonia congenita (AR)	Generalized muscle hypertrophy Myotonia with warm-up phenomenon	1	1	Carmen Palma
00081450	-	-	-	F	no	Spain	-	-	-	-	-	myotonia congenita (AR)	Myotonia with warm-up phenomenon Muscle stiffness	1	1	Carmen Palma
00081451	-	-	-	M	no	Spain	-	-	-	-	-	myotonia congenita (AD)	Myotonia with warm-up phenomenonMarked Marked muscular hypertrophy Myotonia EMG: myotonic runs Percussion myotonia	1	1	Carmen Palma
00081452	-	-	-	M	no	Greece	-	-	-	yes	-	myotonia congenita (AD)	-	3	1	Carmen Palma
00081453	-	-	-	M	no	Spain	-	-	-	-	-	myotonia congenita (AR)	-	1	1	Carmen Palma
00081454	-	-	-	M	no	Spain	-	-	-	-	-	myotonia congenita (AD)	EMG: myotonic runs Myotonia Myotonia with warm-up phenomenon	1	1	Carmen Palma
00111705	-	Brugnoni 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111706	-	Brugnoni 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111707	-	Brugnoni 1999	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00111708	-	Chen 2000	It harbors a G-to-T transition at position +1 of the 5' donor splice site of intron 17.	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111709	-	Chen 2000	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111710	-	Colding-Jörgensen 2003	warm up fenomeen	-	-	-	-	-	-	-	-	myotonia congenita (AR)	Thomsen	1	1	Johan den Dunnen
00111711	-	Colding-Jorgensen 2003	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111712	-	Colding-Jorgensen 2003	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111713	-	Colding-Jorgensen 2003	Partialliy dominant	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111714	-	Colding-Jorgensen 2003;Grunnet 2003	warm up effect, percussie myotonie	-	-	-	-	-	-	-	-	myotonia congenita (AR)	Thomsen	1	1	Johan den Dunnen
00111715	-	de Diego 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AR)	Thomsen	1	1	Johan den Dunnen
00111716	-	de Diego 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111717	-	de Diego 1999	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00111718	-	de Diego 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AR)	Thomsen	1	1	Johan den Dunnen
00111719	-	Deymeer 1998	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00111720	-	Deymeer 1998	n.d.; severe ''dystrophic'' phenotpe together with 831 ins g,Pathogenicity debated	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	2	1	Johan den Dunnen
00111721	-	Deymeer 1998 ref func:Zhang 2000a	Slight shift of po; not dominant	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111722	-	Esteban 1998	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111723	-	Esteban 1998	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111724	-	George 1994	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111725	-	George 1994	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111726	-	George 1994	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111727	-	George 1994; Meyer-Kleine 1995	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111728	-	George 1994; Meyer-Kleine 1995 ref func:Zhang 2000a	Slight shift of po (15 mv)	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111729	-	George 1994; Meyer-Kleine 1995; Koty	Slightly dominant negative; altered gating, recification halide block.	-	-	-	-	-	-	-	-	?	Thomsen/Becker	1	1	Johan den Dunnen
00111730	-	George 1994; Meyer-Kleine 1995; Zhang 1996 ref func:Zhang 2000a	190 mv shift of activation, less degree of deactivation at negative V	-	-	-	-	-	-	-	-	?	Thomsen/Becker	1	1	Johan den Dunnen
00111731	-	George 1994; Meyer-Kleine 1995; Zhang 1996; Plassart-Schiess 1998; Sangiuolo 1998; Papponen 1999	-	-	-	-	-	-	-	-	-	?	Thomsen/Becker	1	1	Johan den Dunnen
00111732	-	Heine 1994	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111733	-	Heine 1994	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00111734	-	Heine 1994	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111735	-	Heine 1994	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111736	-	Heine 1994; Meyer-Kleine 1995; Mailander 1996 ref func:Fahlke 1995/ Pusch 1996	Inwardly rectifying	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111737	-	Jou 2004	-	-	-	-	-	-	-	-	-	myotonia congenita (AR)	Thomsen?	1	1	Johan den Dunnen
00111738	-	Jou 2004	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker?	1	1	Johan den Dunnen
00111739	-	Jou 2004	percussie myotonie, variable attacks of muscle stiffness	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111740	-	Jou 2004	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker?	1	1	Johan den Dunnen
00111741	-	Koch 1992	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111742	-	Koch 1992; Koch 1993; Lorenz 1994; Meyer-Kleine 1995; Sloan Brown and George 1997; Papponen 1999	-	-	-	-	-	-	-	-	-	myotonia congenita (AD)	Becker	1	1	Johan den Dunnen
00111743	-	Kubisch 1998	-	-	-	-	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00111744	-	Kubisch 1998	-	-	-	-	-	-	-	-	-	myotonia congenita (AR)	Thomsen	1	1	Johan den Dunnen

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Global Variome shared LOVD

CLCN1 (chloride channel, voltage-sensitive 1)