All individuals with variants in gene CYBA

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.

92 entries on 1 page. Showing entries 1 - 92.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00104023	Vogelaar-703A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00291572	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00431426	Pat2;Pat2	PubMed: Dinauer 1990, PubMed: Newburger 1994	4-generation family, 2 affected sisters	F	-	United States	-	11y	-	-	-	CGD	see paper; ..., 11y-deceased (Aspergillus pneumonia)	3	2	Johan den Dunnen
00431763	CYBA_Pat1	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431764	CYBA_Pat2	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431765	CYBA_Pat3	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431766	CYBA_Pat4	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431767	CYBA_Pat5	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431768	CYBA_Pat6	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431769	CYBA_Pat7	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431770	CYBA_Pat8	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431771	CYBA_Pat9	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431772	CYBA_Pat10	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431773	CYBA_Pat11	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431774	CYBA_Pat12	PubMed: Rawat 2021	patient	-	-	India	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00431892	Pat47	PubMed: Kulkarni 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431893	Pat49	PubMed: Kulkarni 2018	2-generation family, 1 affected, unaffected heterozygous carrier mother	M	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431894	Pat52	PubMed: Kulkarni 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431895	Pat55	PubMed: Kulkarni 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431896	Pat80	PubMed: Kulkarni 2018	patient	F	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431897	Pat105	PubMed: Kulkarni 2018	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	India	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431979	Pat26	PubMed: Xu 2014	patient	-	-	China	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00431986	Pat33	PubMed: Xu 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	China	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00432124	Pat70	PubMed: Wang 2019	2-generation family, 1 affected, unaffected heterozygous carrier mother	-	-	China	-	-	-	-	-	CGD	see paper; ...	1	1	Johan den Dunnen
00432125	Pat71	PubMed: Wang 2019	2-generation family, 1 affected, unaffected heterozygous carrier mother/sister	-	-	China	-	-	-	-	-	CGD	see paper; ...	2	1	Johan den Dunnen
00432126	Pat73	PubMed: Wang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	China	-	-	-	-	-	CGD	see paper; ...	2	1	Johan den Dunnen
00432155	Pat139	PubMed: He 2011, PubMed: Ying 2014, PubMed: Wu 2017	-	M	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432157	Pat140	PubMed: He 2011, PubMed: Wu 2017	-	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432192	Pat69	PubMed: Wang 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432333	Pat2	PubMed: Beghin 2018	2-generation family, 2 affected brothers	M	-	Kuwait	-	-	-	-	-	CGD	hemorrhagic diarrhea, multiple skin abscesses, hepatosplenomegaly, lymphadenitis, hypoalbuminemia with edema, sepsis, fever, vomitus, inguinal abscess, granulomatous lesions	1	2	Johan den Dunnen
00432334	Pat3	PubMed: Beghin 2018	brother	M	-	Kuwait	-	-	-	-	-	CGD	recurrent infections, fever, sepsis, leukocytosis with high erythrocyte sedimentation rate and C-reactive protein(ESR and CRP), cough	1	1	Johan den Dunnen
00432359	Pat13	PubMed: Kutukculer 2019	-	-	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432360	Pat14	PubMed: Kutukculer 2019	-	-	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432362	Pat16	PubMed: Kutukculer 2019	-	-	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432363	Pat17	PubMed: Kutukculer 2019	-	-	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432370	Pat24	PubMed: Kutukculer 2019	-	-	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432375	Pat1	PubMed: Jakobsen 2012	-	F	-	Denmark	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432376	Pat2	PubMed: Jakobsen 2012	-	F	-	Denmark	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432377	Pat3	PubMed: Jakobsen 2012	family, 4 affected	M	-	Denmark	-	-	-	-	-	CGD	-	1	4	Johan den Dunnen
00432378	Pat4	PubMed: Jakobsen 2012	relative	M	-	Denmark	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432379	Pat5	PubMed: Jakobsen 2012	relative	F	-	Denmark	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432380	Pat6	PubMed: Jakobsen 2012	relative	F	-	Denmark	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432450	Pat22-1	PubMed: Ishibashi 2000	-	-	-	Japan	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432451	Pat22-2	PubMed: Ishibashi 2000	-	-	-	Japan	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432452	Pat22-3	PubMed: Ishibashi 2000	-	-	-	Japan	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432453	Pat22-4	PubMed: Ishibashi 2000	-	-	-	Japan	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432454	Pat22-5	PubMed: Ishibashi 2000	-	-	-	Japan	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432512	-	PubMed: Wolach 2017	family, 2 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	2	Johan den Dunnen
00432513	-	PubMed: Wolach 2017	family, 4 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	4	Johan den Dunnen
00432514	-	PubMed: Wolach 2017	family, 2 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	2	Johan den Dunnen
00432515	-	PubMed: Wolach 2017	3 families, 10 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	10	Johan den Dunnen
00432516	-	PubMed: Wolach 2017	family, 2 affected	-	-	Israel	-	-	-	-	-	CGD	-	1	2	Johan den Dunnen
00432701	Pat151	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432702	Pat152	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432703	Pat153	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432704	Pat154	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432705	Pat155	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432706	Pat156	PubMed: Zhou 2018	2-generation family, 1 affected, unaffected carrier mother	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432707	Pat157	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432852	PatB1	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432853	PatB2	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432854	PatB3	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432855	PatB4	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00432856	PatB5	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432857	PatB6	PubMed: Gao 2019	2-generation family, 1 affected, unaffected parents	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00432858	PatB7	PubMed: Gao 2019	2-generation family, 1 affected, unaffected non-carrier father	-	-	China	-	-	-	-	-	CGD	-	2	1	Johan den Dunnen
00433027	Pat23	PubMed: Martel 2012	2-generation family, heterozygous carrier mother	-	-	France	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433268	FamB1Pat1	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433269	FamB2Pat2	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433270	FamB3Pat3	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433271	FamB4Pat4	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433272	FamB5Pat5	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433273	FamB6Pat6	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433274	FamB7Pat7	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433275	FamB8Pat8	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433276	FamB9Pat9	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433277	FamB10Pat10	PubMed: Koker 2013	family, 2 affected	F	-	Turkey	-	-	-	-	-	CGD	-	1	2	Johan den Dunnen
00433278	FamB10Pat11	PubMed: Koker 2013	relative	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433279	FamB11Pat12	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433280	FamB12Pat13	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433281	FamB13Pat14	PubMed: Koker 2013	-	F	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433282	FamB14Pat15	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433283	FamB15Pat16	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433284	FamB16Pat17	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433285	FamB17Pat18	PubMed: Koker 2013	family, 2 affected	F	-	Turkey	-	-	-	-	-	CGD	-	1	2	Johan den Dunnen
00433286	FamB17Pat19	PubMed: Koker 2013	relative	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433287	FamB18Pat20	PubMed: Koker 2013	-	M	-	Turkey	-	-	-	-	-	CGD	-	1	1	Johan den Dunnen
00433467	Fam16Pat25	PubMed: Aygun 2020	2-generation family, 1 affected	F	yes	Turkey	-	-	-	-	-	CGD	see paper	1	1	Johan den Dunnen
00433468	Fam17Pat26	PubMed: Aygun 2020	2-generation family, 1 affected	F	no	Turkey	-	-	-	-	-	CGD	see paper	1	1	Johan den Dunnen
00433469	Fam18Pat27	PubMed: Aygun 2020	2-generation family, 1 affected	F	yes	Turkey	-	-	-	-	-	CGD	see paper	1	1	Johan den Dunnen
00433470	Fam19Pat28	PubMed: Aygun 2020	2-generation family, 1 affected	M	no	Turkey	-	-	-	-	-	CGD	see paper	2	1	Johan den Dunnen
00433497	FamJ	PubMed: Bakri 2009	2-generation family, 2 affected sisters, unaffected carrier parents/relatives	F	yes	Jordan	-	-	-	-	-	CGD	-	1	2	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

CYBA (cytochrome b-245, alpha polypeptide)