All individuals with variants in gene SLC25A13

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.

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

	Legend	How to query	« First	‹ Prev		1	2		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
00112519	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	8	Johan den Dunnen
00112520	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	57	Johan den Dunnen
00112521	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	5	Johan den Dunnen
00112522	-	PubMed: Kobayashi 1999, OMIM:var0004	-	-	-	-	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00112523	-	PubMed: Tazawa 2001	-	-	-	-	-	-	-	-	-	NICCD	-	2	1	Johan den Dunnen
00112524	-	PubMed: Kobayashi 1999, OMIM:var0004	-	-	-	-	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00112525	-	PubMed: Kobayashi 1999, OMIM:var0001	-	-	-	-	-	-	-	-	-	CTLN2	-	2	9	Johan den Dunnen
00112526	-	PubMed: Kobayashi 1999, OMIM:var0001	-	-	-	-	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00112527	-	PubMed: Ohura 2001, OMIM:var0001	-	-	-	Japan	-	-	-	-	-	NICCD	favorable clinical course, all biochemical abnormalities normalized at 12m	2	1	Johan den Dunnen
00112528	-	PubMed: Tamamori 2002, OMIM:var0001	-	-	-	Japan	-	-	-	-	-	NICCD	progressive, liver transplant at 10m	2	1	Johan den Dunnen
00112529	-	-	-	F	-	China	-	-	-	-	-	CTLN2	-	2	1	Chao Liu
00112530	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00112531	11153906-Pat	PubMed: Yasuda 2000	2 patients	M	-	Japan	-	-	-	-	-	CTLN2	-	2	2	Johan den Dunnen
00112532	-	PubMed: Kobayashi 1999, OMIM:var0002	-	-	-	-	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00112533	-	PubMed: Tamamori 2002, OMIM:var0002	-	-	-	Japan	-	-	-	-	-	NICCD	-	2	1	Johan den Dunnen
00112534	-	PubMed: Tomamosa 2001, OMIM:var0002	-	-	-	Japan	-	-	-	-	-	NICCD	-	2	2	Johan den Dunnen
00112535	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	40	Johan den Dunnen
00112536	-	PubMed: Kobayashi 1999, OMIM:var0003	-	-	-	-	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00112537	-	PubMed: Mitchell 2009	-	-	-	United States	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00112538	-	PubMed: Fiermonte 2008, OMIM:var0007	-	-	no	Pakistan	-	-	-	-	-	CTLN2	episodic confusion, elevated plasma ammonia/arginine levels; fatal hyperammonemic encephalopathy	2	1	Johan den Dunnen
00112539	-	PubMed: Fiermonte 2008, OMIM:var0007	-	-	no	Pakistan	-	-	-	-	-	?	asymptomatic	2	2	Johan den Dunnen
00132621	patient	PubMed: Takahashi 2006	-	M	-	Japan	-	-	-	-	-	CTLN2	see paper	2	1	Johan den Dunnen
00132622	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Canada	French-Canadian	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132623	Pat758	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	NICCD	-	2	1	Johan den Dunnen
00132625	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	China	-	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132626	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	11	Johan den Dunnen
00132627	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	11	Johan den Dunnen
00132628	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Korea	-	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132629	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Taiwan	-	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132630	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Canada	French-Canadian	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132631	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132632	patients	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	49	Johan den Dunnen
00132633	patients	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	34	Johan den Dunnen
00132634	Pat919	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00132635	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	3	Johan den Dunnen
00132636	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132637	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Korea	-	-	-	-	-	CTLN2	-	1	2	Johan den Dunnen
00132638	?	PubMed: Woo 2014, Journal: Woo 2014	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132639	Pat702	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00132640	PatP474	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00132642	Pat557	PubMed: Tabata 2008, Journal: Tabata 2008	-	F	no	Japan	-	-	-	-	partial liver transplantation from mother	CTLN2	diagnosed as CTLN2 by clinical and biochemical studies	3	1	Johan den Dunnen
00132643	patients	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	2	Johan den Dunnen
00132645	con	PubMed: Tabata 2008, Journal: Tabata 2008	unaffected heterozygous carrier	-	-	Japan	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00132646	Pat857	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00132647	Pat709	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Israel	Jewish-Ashkenazi	-	-	-	-	NICCD	-	2	1	Johan den Dunnen
00132648	Pat730	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	NICCD	-	2	1	Johan den Dunnen
00132649	Pat1037	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Czech Republic	-	-	-	-	-	NICCD	-	2	1	Johan den Dunnen
00132650	Pat549	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	no	Japan	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00132651	Pat456	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00132652	Pat1221	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	NICCD	-	1	1	Johan den Dunnen
00132740	16737877-Pat1	PubMed: Yeh 2006	-	-	-	Taiwan	-	-	-	-	-	NICCD	increased Citr, Met, Orn	2	1	Johan den Dunnen
00132741	16737877-Pat2	PubMed: Yeh 2006	-	-	-	Taiwan	-	-	-	-	-	NICCD	increased level Met, Tyr, Pro	1	1	Johan den Dunnen
00132742	16737877-Pat3	PubMed: Yeh 2006	-	-	-	Taiwan	-	-	-	-	-	NICCD	normal amino acid levels	1	1	Johan den Dunnen
00132743	16737877-Pat11	PubMed: Yeh 2006	-	-	-	Taiwan	-	-	-	-	-	NICCD	increased level Citr, Met, Thr, Tyr, Phe, Lys, Arg	1	1	Johan den Dunnen
00132744	16737877-Pat4	PubMed: Yeh 2006	-	-	-	Taiwan	-	-	-	-	-	NICCD	increased level Met, Tyr	1	1	Johan den Dunnen
00132745	16737877-Pat5	PubMed: Yeh 2006	-	-	-	Taiwan	-	-	-	-	-	NICCD	increased level Citr	1	1	Johan den Dunnen
00132746	17982687-Pat1	PubMed: Ko 2007	-	M	-	Korea	-	-	-	-	-	NICCD	hyperammonemia, hypercitrullinemia, galactosemia	2	1	Johan den Dunnen
00132747	17982687-Pat2	PubMed: Ko 2007	-	F	-	Korea	-	-	-	-	-	NICCD	Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia	2	1	Johan den Dunnen
00132748	17982687-Pat3	PubMed: Ko 2007	-	M	-	Korea	-	-	-	-	-	NICCD	Hyperammonemia, hypercitrullinemia, galactosemia, cholestasis, hypoproteinemia	2	1	Johan den Dunnen
00132749	17982687-Pat4	PubMed: Ko 2007	-	F	-	Korea	-	-	-	-	-	NICCD	Hyperammonemia, hypercitrullinemia	2	1	Johan den Dunnen
00132750	17982687-Pat5	PubMed: Ko 2007	-	M	-	Korea	-	-	-	-	-	CTLN2	hyperammonemia, hypercitrullinemia	2	1	Johan den Dunnen
00132751	17982687-Pat6	PubMed: Ko 2007	-	M	-	Korea	-	-	-	-	-	CTLN2	hyperammonemia, hypercitrullinemia	2	1	Johan den Dunnen
00132753	Pat	Journal: Hutchin 2006 P-4-23	-	M	no	United Kingdom (Great Britain)	-	-	-	-	-	NICCD	see paper; ...	2	1	Johan den Dunnen
00132754	Pat	Journal: Sheng 2006 P-18-24	-	M	-	Taiwan	-	-	-	-	-	NICCD	see paper; ...	2	1	Johan den Dunnen
00132755	Pat1	Journal: Luder 2006 O-17-2	-	M	-	Israel	moslem	-	-	-	-	NICCD	severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 4y-healthy with no treatment	1	1	Johan den Dunnen
00132756	Pat2	Journal: Luder 2006 O-17-2	-	-	no	Israel	mixed Moslem/Circassian	-	-	-	-	NICCD	severe anemia, hypergalactosaemia, citrullinaemia, hypermethioneamia; 2y-healthy with no treatment	1	1	Johan den Dunnen
00132757	16311094-Pat	PubMed: Takaya 2005	-	M	-	Japan	-	-	-	-	-	NICCD	see paper; ...	2	1	Johan den Dunnen
00132758	16311094-Pat2	PubMed: Takaya 2005	-	F	-	Japan	-	-	-	-	-	NICCD	see paper; ...	1	1	Johan den Dunnen
00132759	12409267-Pat	PubMed: Ben-Shalom 2002	-	M	yes	Israel	Moslem	-	-	-	-	NICCD	see paper; ..., prolonged icterus, hepatocellular dysfunction, increased citrulline and dibasic amino acids in plasma and urine	1	1	Johan den Dunnen
00132760	16059747-Pat1	PubMed: Lu 2005	-	-	-	Japan	-	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132761	16059747-Pat	PubMed: Lu 2005	-	-	no	Japan	-	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00132762	15542392-Pat8	PubMed: Tazawa 2004	-	F	no	Japan	-	-	-	-	-	NICCD	see paper; ...	2	1	Johan den Dunnen
00132763	11793471-Pat2	PubMed: Yamaguchi 2002	-	-	-	Japan	-	-	-	-	-	NICCD	-	2	1	Johan den Dunnen
00132764	11153906-Pat	PubMed: Yasuda 2000	-	F	-	Japan	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00132766	11153906-Pat	PubMed: Yasuda 2000	-	M	-	Japan	-	-	-	-	-	CTLN2	-	2	1	Johan den Dunnen
00294520	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00307650	NCU14	PubMed: Togawa 2016	-	M	-	Japan	-	-	-	-	-	?	see paper; ...	2	1	Johan den Dunnen
00307651	NCU15	PubMed: Togawa 2016	-	M	-	Japan	-	-	-	-	-	?	see paper; ...	2	1	Johan den Dunnen
00307652	NCU16	PubMed: Togawa 2016	-	M	-	Japan	-	-	-	-	-	?	see paper; ...	2	1	Johan den Dunnen
00307653	NCU17	PubMed: Togawa 2016	-	F	-	Japan	-	-	-	-	-	?	see paper; ...	2	1	Johan den Dunnen
00307661	NCU28	PubMed: Togawa 2016	-	F	-	Japan	-	-	-	-	-	?	see paper; ...	2	1	Johan den Dunnen
00308715	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00431010	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	1	247	Johan den Dunnen
00431011	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00431012	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	2	4	Johan den Dunnen
00431013	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	2	8	Johan den Dunnen
00431014	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	2	17	Johan den Dunnen
00431015	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	2	4	Johan den Dunnen
00431016	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00431017	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	2	3	Johan den Dunnen
00431018	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	2	3	Johan den Dunnen
00431019	-	PubMed: Nguyen 2023	analysis 292 unrelated CD patients	-	no	Viet Nam	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00431020	WBCT170102	PubMed: Nguyen 2023	analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	no	Viet Nam	-	-	-	-	-	?	see paper	3	1	Johan den Dunnen
00431021	WBCT210304	PubMed: Nguyen 2023	analysis 292 unrelated CD patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	no	Viet Nam	-	-	-	-	-	?	see paper	2	1	Johan den Dunnen
00431024	patient	PubMed: Ben-Shalom 2002	-	M	yes	Israel	Moslem	-	-	-	-	?	see paper	1	1	Johan den Dunnen
00431025	patients	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	China	Asia-E	-	-	-	-	CTLN2	-	1	2	Johan den Dunnen
00431026	patients	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	China	Asia-E	-	-	-	-	NICCD	-	1	15	Johan den Dunnen
00431027	patients	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	China	Asia-E	-	-	-	-	CTLN2	-	1	1	Johan den Dunnen
00431028	patients	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	China	Asia-E	-	-	-	-	NICCD	-	1	23	Johan den Dunnen
00431029	patients	PubMed: Tabata 2008, Journal: Tabata 2008	-	-	-	Japan	Asia-E	-	-	-	-	CTLN2	-	1	44	Johan den Dunnen

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Global Variome shared LOVD

SLC25A13 (solute carrier family 25 (aspartate/glut...))