All individuals with variants in gene CLCN5

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.

245 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	4	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	3	1	Yu Sun
00025648	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025649	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025650	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025651	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025652	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025653	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025654	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025655	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025656	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025657	-	-	-	M	yes	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025658	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025659	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025660	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025661	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025662	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025663	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	3	1	Rosa Vargas-Poussou
00025664	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025665	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025666	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025667	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025668	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025669	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025670	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025671	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025672	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025673	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025674	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025675	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025676	-	-	-	M	?	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025677	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025678	-	-	-	M	?	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025679	-	-	-	M	?	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025680	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025681	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025682	-	-	-	M	no	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025683	-	-	-	M	?	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025684	-	-	-	M	no	Switzerland	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025685	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025686	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025687	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025688	-	-	-	M	no	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025689	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025690	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025691	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025692	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025693	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025694	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025695	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025696	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025697	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025698	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025699	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025700	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025701	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025702	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025703	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025704	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025705	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025706	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025707	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025708	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025709	-	-	-	M	?	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025710	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025711	-	-	-	M	?	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025712	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025713	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025714	-	-	-	M	?	-	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025715	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025716	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025717	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025718	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025719	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025720	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025721	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025722	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025723	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025724	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025725	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025726	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025727	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025728	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025729	-	-	-	M	?	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025730	-	-	-	M	no	France	white	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025731	-	PubMed: Lloyd 1996	multi-general family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Johan den Dunnen
00025732	-	PubMed: Lloyd 1996	multi-generation family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Johan den Dunnen
00025733	-	PubMed: Lloyd 1996	3-generation family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Rosa Vargas-Poussou
00025734	-	PubMed: Lloyd 1996	multi-generation family	-	no	United States	-	-	-	-	-	XRN	-	1	1	Rosa Vargas-Poussou
00025735	-	PubMed: Lloyd 1996	multi-generation family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Johan den Dunnen
00025736	-	PubMed: Lloyd 1996	4-generation family, 9 affecteds	-	no	Italy	-	-	-	-	-	rickets, hypophosphatemic, X-linked recessive	-	1	9	Rosa Vargas-Poussou
00025737	-	PubMed: Lloyd 1996	3-generation family, 3 affecteds	-	no	United States	-	-	-	-	-	XRN	-	1	3	Johan den Dunnen
00025738	-	PubMed: Lloyd 1996	multi-generation family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Johan den Dunnen
00025739	-	PubMed: Lloyd 1996	multi-generation family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Johan den Dunnen
00025740	-	PubMed: Lloyd 1996	multi-generation family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Johan den Dunnen
00025741	-	PubMed: Lloyd 1996	multi-generation family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Johan den Dunnen
00025742	-	PubMed: Lloyd 1996	multi-generation family	-	no	United Kingdom (Great Britain)	-	-	-	-	-	DENT1	-	1	1	Johan den Dunnen
00025743	-	PubMed: Lloyd 1997	2-generation family, 2 affected males	M	-	Japan	-	-	-	-	-	proteinuria, hypercalciuria, nephrocalcinosis	see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis	1	2	Johan den Dunnen
00025744	-	PubMed: Lloyd 1997	2-generation family, affected male	M	-	Japan	-	-	-	-	-	proteinuria, hypercalciuria, nephrocalcinosis	see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis	1	1	Johan den Dunnen
00025745	-	PubMed: Lloyd 1997	2-generation family, 2 affected males	M	-	Japan	-	-	-	-	-	proteinuria, hypercalciuria, nephrocalcinosis	see paper; low molecular weight proteinuria, hypercalciuria, nephrocalcinosis	1	2	Johan den Dunnen

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Global Variome shared LOVD

CLCN5 (chloride channel, voltage-sensitive 5)