All individuals with variants in gene NCF2

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.

109 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
00229607	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229608	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229609	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229610	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229611	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229612	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229613	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	SIB - Livia Famiglietti
00229614	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229615	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229616	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229617	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229618	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229619	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229620	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229621	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229622	-	-	-	-	-	-	-	-	-	-	-	CGD2	-	1	1	SIB - Livia Famiglietti
00229623	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	SIB - Livia Famiglietti
00229624	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	SIB - Livia Famiglietti
00289610	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	83	Mohammed Faruq
00289611	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	9	Mohammed Faruq
00289612	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	12	Mohammed Faruq
00308684	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00308685	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00384628	Family 6 patient 1	PubMed: Ehrenberg 2019	-	M	yes	Israel	-	-	-	-	-	?	Retinitis pigmentosa (?) and chronic granulomatous disease (AR)	1	1	LOVD
00415501	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00415502	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00415503	-	PubMed: Kannengiesser 2008, Journal: Kannengiesser 2008	-	-	-	France	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00415515	FamPat20	PubMed: Wolach 2008, Journal: Wolach 2008	2-generation family, 4 affected (2F, 2M)	M	yes	Israel	Arab	-	-	-	-	CGD	see paper; ...	1	4	Johan den Dunnen
00415516	FamPat21	PubMed: Wolach 2008, Journal: Wolach 2008	sib	M	yes	Israel	Arab	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00415517	FamPat22	PubMed: Wolach 2008, Journal: Wolach 2008	cousin	F	yes	Israel	Arab	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00415518	FamPat23	PubMed: Wolach 2008, Journal: Wolach 2008	cousin	F	yes	Israel	Arab	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431636	FamPat5;NCF2-Pat1	PubMed: Vignesh 2021, PubMed: Rawat 2021	5-generation family, 6 affected (5F, M)	F;M	-	India	-	-	-	-	-	CGD	-	1	6	Johan den Dunnen
00431743	NCF2-Pat2	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00431744	NCF2-Pat3	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431745	NCF2-Pat4	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431746	NCF2-Pat5	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431747	NCF2-Pat6	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431748	NCF2-Pat7	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431749	NCF2-Pat8	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431750	NCF2-Pat9	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431751	NCF2-Pat10	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431752	NCF2-Pat11	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431753	NCF2-Pat12	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431754	NCF2-Pat13	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431755	NCF2-Pat14	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00431756	NCF2-Pat15	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431757	NCF2-Pat16	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431758	NCF2-Pat17	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431759	NCF2-Pat18	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431760	NCF2-Pat19	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431761	NCF2-Pat20	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431762	NCF2-Pat21	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431898	Pat43	PubMed: Kulkarni 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	India	-	-	-	-	-	CGD	see paper; ...	2	1	Johan den Dunnen
00431899	Pat51	PubMed: Kulkarni 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431900	Pat60	PubMed: Kulkarni 2018	patient	F	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431901	Pat77	PubMed: Kulkarni 2018	patient	M	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431902	Pat92	PubMed: Kulkarni 2018	patient	F	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431903	Pat117	PubMed: Kulkarni 2018	patient	M	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00432127	Pat75	PubMed: Wang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	China	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00432128	Pat76	PubMed: Wang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	China	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00432153	Pat136	PubMed: Ying 2014, PubMed: Wu 2017	-	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432154	Pat137	PubMed: Ying 2014, PubMed: Wu 2017	-	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432178	Pat43	PubMed: Wu 2017	-	M	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432252	Fam4Pat5	PubMed: Gentsch 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Pakistan	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432253	Fam1Pat1/2	PubMed: Gentsch 2010	2-generation family, 2 affected, unaffected heterozygous carrier parents	-	-	Lebanon	-	-	-	-	-	CGD	-	1	2	Johan den Dunnen
00432254	Fam2Pat3	PubMed: Gentsch 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Lebanon	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432255	Fam3Pat4	PubMed: Gentsch 2010	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Lebanon	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432306	Pat15(N0169)	PubMed: Li 2019	-	-	-	China	-	-	-	-	-	CGD	see paper; ..., alive, stopped anti-BCG treatment)	1	1	Johan den Dunnen
00432330	PatV	PubMed: Raptaki 2013	-	M	-	Greece	-	-	-	-	-	CGD	Otitis media, adenophlegmon- Candida parapsilosis, lymphadenitis	1	1	Johan den Dunnen
00432331	PatW	PubMed: Raptaki 2013	2-generation family, 2 affected, unaffected parents	M	-	Greece	-	-	-	-	-	CGD	Pneumonia aspergillosis, gastroenteritis salmonellosis	1	2	Johan den Dunnen
00432332	PatX	PubMed: Raptaki 2013	relative	M	-	Greece	-	14y	-	-	-	CGD	14y-died; pneumonia (aspergillosis), cervical lymphadenitis, hepatic abscess, sternal & vertebral osteomyelitis (aspergillosis), cervical and submaxillary lymphadenitis, septicaemia	1	1	Johan den Dunnen
00432345	Pat14	PubMed: Beghin 2018	-	F	-	Italy	-	-	-	-	-	CGD	pneumonia, cardiomyopathy	1	1	Johan den Dunnen
00432349	Pat3	PubMed: Kutukculer 2019	-	-	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432521	-	PubMed: Wolach 2017	4 families, 8 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	8	Johan den Dunnen
00432522	-	PubMed: Wolach 2017	family, 8 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	8	Johan den Dunnen
00432523	-	PubMed: Wolach 2017	family, 2 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	2	Johan den Dunnen
00432524	-	PubMed: Wolach 2017	5 families, 14 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	14	Johan den Dunnen
00432713	Pat163	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432714	Pat164	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432715	Pat165	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432716	Pat166	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432717	Pat167	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432718	Pat168	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432719	Pat169	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432863	PatB12	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432864	PatB13	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432865	PatB14	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432866	PatB15	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00433026	Pat22	PubMed: Martel 2012	2-generation family, heterozygous carrier parents	-	-	France	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433305	FamD1Pat1	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433306	FamD2Pat2	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433307	FamD3Pat3	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00433308	FamD4Pat4	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00433309	FamD5Pat5	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00433310	FamD6Pat6	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00433311	FamD7Pat7	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00433312	FamD8Pat8	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433313	FamD9Pat9	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433314	FamD10Pat10	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433315	FamD11Pat11	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

NCF2 (neutrophil cytosolic factor 2)