All individuals with variants in gene ITGB2

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.

446 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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)	1	1	Yu Sun
00180511	-	PubMed: Lee 2014	Korean cohort	F;M	-	Korea	Korean	-	-	for details see the Uveogene database	-	Behcet	-	1	110	Peizeng Yang
00245209	Pat6	PubMed: Bruno 2011, Journal: Bruno 2011	-	-	-	Australia	-	-	-	-	-	LAD1	-	1	1	Damien Bruno
00293024	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00305892	7	-	-	M	-	China	-	-	-	-	-	?	-	1	1	Sha Hong
00334546	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00335017	-	PubMed: Luo 2021, Journal: Luo 2021	analysis 233 patients	-	-	China	-	-	-	-	-	IMD74	hospitalized after COVID-19 infection,	1	1	Liu Wenbing
00417866	cases	PubMed: Zhao 2013, Journal: Zhao 2013	association analysis 106 biliary atresia patients/108 unrelated healthy controls	-	-	China	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00417867	cases	PubMed: Zhao 2013, Journal: Zhao 2013	association analysis 106 biliary atresia patients/108 unrelated healthy controls	-	-	China	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00417868	cases	PubMed: Zhao 2013, Journal: Zhao 2013	association analysis 106 biliary atresia patients/108 unrelated healthy controls	-	-	China	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00417869	cases	PubMed: Zhao 2013, Journal: Zhao 2013	association analysis 106 biliary atresia patients/108 unrelated healthy controls	-	-	China	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00417870	cases	PubMed: Zhao 2013, Journal: Zhao 2013	association analysis 106 biliary atresia patients/108 unrelated healthy controls	-	-	China	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00417871	cases	PubMed: Zhao 2013, Journal: Zhao 2013	association analysis 106 biliary atresia patients/108 unrelated healthy controls	-	-	China	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00417872	cases	PubMed: Zhao 2013, Journal: Zhao 2013	association analysis 106 biliary atresia patients/108 unrelated healthy controls	-	-	China	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00417876	patient	PubMed: Cox 2008, Journal: Cox 2008	2 generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	LAD	see paper	2	1	Johan den Dunnen
00417878	Pat1	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417879	Pat2	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417880	Pat3	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417881	Pat4	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417882	Pat5	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417883	Pat6	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417884	Pat7	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417885	Pat8	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417886	Pat9	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Teimourian 2019, Journal: Teimourian 2019	-	F	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417887	Pat10	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417888	Pat11	PubMed: Parvaneh 2010, Journal: Parvaneh 2010, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	Iran	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417889	-	PubMed: Rivera-Matos 1995, Journal: Rivera-Matos 1995, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417890	Pat1	PubMed: Roos 2002, Journal: Roos 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	LAD	-	1	2	Dirk Roos
00417891	sister	PubMed: Roos 2002, Journal: Roos 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver	sister	F	yes	Turkey	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417892	Pat2	PubMed: Roos 2002, Journal: Roos 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417893	Pat3	PubMed: Roos 2002, Journal: Roos 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	yes	Switzerland	-	-	-	-	-	LAD	-	1	2	Dirk Roos
00417894	brother	PubMed: Roos 2002, Journal: Roos 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver	brother	M	yes	Switzerland	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417895	Pat4	PubMed: Roos 2002, Journal: Roos 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417896	Pat5	PubMed: Shaw 2001, Journal: Shaw 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Roos 2002, Journal: Roos 2002	2-generation family, 3 affected sibs	M	-	-	gypsy	-	-	-	-	LAD	-	1	3	Dirk Roos
00417897	sib	PubMed: Shaw 2001, Journal: Shaw 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Roos 2002, Journal: Roos 2002	-	F	-	-	gypsy	-	-	-	-	LAD	-	1	1	Dirk Roos
00417898	sib	PubMed: Shaw 2001, Journal: Shaw 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Roos 2002, Journal: Roos 2002	-	F	-	-	gypsy	-	-	-	-	LAD	-	1	1	Dirk Roos
00417899	PatE;Pat6	PubMed: Wright 1995, Journal: Wright 1995, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Roos 2002, Journal: Roos 2002	2 generation family, 2 affected sibs, unaffected heterozygous carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	LAD	-	2	2	Dirk Roos
00417900	PatK	PubMed: Wright 1995, Journal: Wright 1995, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Roos 2002, Journal: Roos 2002	sib PatE	M	-	United Kingdom (Great Britain)	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417901	Pat3	PubMed: Nelson 1992, PubMed: Uzel 2008, Journal: Uzel 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	3	1	Dirk Roos
00417902	-	PubMed: Shaw 2001, Journal: Shaw 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Roos 2002, Journal: Roos 2002	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417903	Pat14;PatG	PubMed: Wardlaw 1990, Journal: Wardlaw 1990, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Wright 1995, Journal: Wright 1995, PubMed: Roos 2002, Journal: Roos 2002	-	M	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417904	-	PubMed: Sligh 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	United States	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417905	-	PubMed: Sligh 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	United States	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417906	-	PubMed: Lopez 1993, Journal: Lopez 1993	-	F	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417907	?;PatC	PubMed: Lopez 1993, Journal: Lopez 1993, PubMed: Uzel 2008, Journal: Uzel 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417908	-	PubMed: Fiorini 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	-	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417909	patient	PubMed: Tsai 2008, Journal: Tsai 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Taiwan	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417910	-	PubMed: Allende 2000, Journal: Allende 2000, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Spain	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417911	PatY	PubMed: Matsuura 1992, Journal: Matsuura 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver	2 generation family, affected sister/brother, unaffected heterozygous carrier parents	F	-	Japan	-	-	-	-	-	LAD	-	1	2	Dirk Roos
00417912	patient	PubMed: Matsuura 1992, Journal: Matsuura 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver	brother	M	-	Japan	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417913	PatK	PubMed: Matsuura 1992, Journal: Matsuura 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	Japan	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417914	-	PubMed: Hogg 1999, Journal: Hogg 1999, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417915	-	PubMed: Wardlaw 1990, Journal: Wardlaw 1990, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417916	-	PubMed: Corbi 1992, Journal: Corbi 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417917	-	PubMed: Back 1992, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417918	-	PubMed: Ohashi 1993, Journal: Ohashi 1993, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	Japan	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417919	patient	PubMed: Arnaout 1990, Journal: Arnaout 1990, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	3	1	Dirk Roos
00417920	-	PubMed: Pollard 2001, Journal: Pollard 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	Canada	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417921	-	PubMed: Mathew 2000, Journal: Mathew 20000, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417922	-	PubMed: Shaw 2001, Journal: Shaw 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Roos 2002, Journal: Roos 2002	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417923	-	PubMed: Back 1993, Journal: Back 1993, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417924	family	PubMed: Kishimoto 1989, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	Hispanic	-	-	-	-	LAD	-	1	1	Dirk Roos
00417925	family	PubMed: Kishimoto 1989, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	Hispanic	-	-	-	-	LAD	-	1	1	Dirk Roos
00417926	family	PubMed: Kishimoto 1989, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	Hispanic	-	-	-	-	LAD	-	1	1	Dirk Roos
00417927	family	PubMed: Kishimoto 1989, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	Hispanic	-	-	-	-	LAD	-	1	1	Dirk Roos
00417928	PatB	PubMed: Wright 1995, Journal: Wright 1995, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	LAD	-	3	1	Dirk Roos
00417929	PatC	PubMed: Wright 1995, Journal: Wright 1995, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	yes	United Kingdom (Great Britain)	-	-	-	-	-	LAD	-	4	1	Dirk Roos
00417930	PatR	PubMed: Wright 1995, Journal: Wright 1995, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	LAD	-	4	1	Dirk Roos
00417931	Pat1	PubMed: Uzel 2008, Journal: Uzel 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver	2 generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417932	Pat2	PubMed: Uzel 2008, Journal: Uzel 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver	2 generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417933	-	PubMed: Hixson 2004, Journal: Hixson 2004, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	United States	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417934	-	PubMed: Fathallah 2001, Journal: Fathallah 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417935	-	PubMed: Fathallah 2001, Journal: Fathallah 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417936	-	PubMed: Fathallah 2001, Journal: Fathallah 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417937	-	PubMed: Fathallah 2001, Journal: Fathallah 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417938	PatA	PubMed: Uzel 2008, Journal: Uzel 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver	2 generation family, 2 affected, unaffected heterozygous carrier parents	F	-	-	-	-	-	-	-	LAD	-	1	2	Dirk Roos
00417939	-	PubMed: Fathallah 2001, Journal: Fathallah 2001, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417940	PatB	PubMed: Uzel 2008, Journal: Uzel 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver	sib	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417941	PatD	PubMed: Uzel 2008, Journal: Uzel 2008, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	United States	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417942	patient	PubMed: Tone 2007, Journal: Tone 2007, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Japan	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417943	-	CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	F	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417944	-	CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417945	-	CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417946	-	Law unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	-	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417947	-	CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417948	-	CLB unpunl., PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Lorusso 2006, Journal: Lorusso 2006	-	F	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417949	-	CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417950	-	PubMed: Vahlquist 2015, Journal: Vahlquist 2015, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417951	-	CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417952	-	CLB unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417953	-	Parvaneh unpubl., PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417954	-	Malawista 2003, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Palestine	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417955	Pat2	PubMed: Van De Vijver, Journal: Madkaikar 2015	-	M	-	India	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417956	Pat14	PubMed: Madkaikar 2015, Journal: Madkaikar 2015	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417957	-	Mathews unpubl, Madkaikar unpubl.PubMed: Roos 2023, Journal: Roos 2023	-	F	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417958	-	Madkaikar unpubl.PubMed: Roos 2023, Journal: Roos 2023	-	M	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417959	PatA	PubMed: Fiorini 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	-	-	-	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417960	PatB	PubMed: Fiorini 2002, PubMed: Van De Vijver 2012, Journal: Van De Vijver, PubMed: Eyerich 2009, Journal: Eyerich 2009	-	F	-	Italy	-	-	-	-	-	LAD	-	1	1	Dirk Roos
00417961	-	Castriconi 2007, Fiorini 2002, PubMed: Fiorini 2009, De Rose 2018, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	-	-	-	-	-	-	LAD	-	2	1	Dirk Roos
00417962	-	Castriconi 2007, De Rose 2018, PubMed: Van De Vijver 2012, Journal: Van De Vijver	-	M	-	Tunisia	-	-	-	-	-	LAD	-	1	1	Dirk Roos

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

Global Variome shared LOVD

ITGB2 (integrin, beta 2 (complement component 3 re...))