All individuals with variants in gene CYP1B1

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
00035475	-	-	-	-	-	Germany	-	-	-	-	-	?	congenital glaucoma	1	1	Andreas Laner
00035476	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035477	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035478	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035479	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035480	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035481	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035482	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035483	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00051759	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051760	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Sarah C Sim
00051761	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051762	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051763	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Sarah C Sim
00051764	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	3	1	Sarah C Sim
00051765	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	4	1	Sarah C Sim
00051766	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	3	1	Sarah C Sim
00051767	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051768	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051769	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051770	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051771	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051772	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051773	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051774	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051775	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051776	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051777	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051778	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051779	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051780	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051781	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051782	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051783	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051784	-	-	reference haplotype	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Sarah C Sim
00051785	-	-	-	-	-	United States	white	-	-	-	-	Healthy/Control	-	1	134	Johan den Dunnen
00051786	-	-	-	-	-	United States	African American	-	-	-	-	Healthy/Control	-	1	82	Johan den Dunnen
00051787	-	-	-	-	-	United States	white	-	-	-	-	Healthy/Control	-	1	57	Johan den Dunnen
00051788	-	-	-	-	-	United States	African American	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00051789	-	-	-	-	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00051790	-	-	-	-	-	United States	-	-	-	-	-	?	cancer, breast	2	27	Johan den Dunnen
00051791	-	-	-	-	-	United States	-	-	-	-	-	?	cancer, breast	1	85	Johan den Dunnen
00051792	-	-	-	-	-	United States	-	-	-	-	-	?	cancer, breast	2	5	Johan den Dunnen
00051793	-	-	-	-	-	United States	-	-	-	-	-	?	cancer, breast	1	48	Johan den Dunnen
00051794	-	-	-	-	-	United States	-	-	-	-	-	?	cancer, breast	2	19	Johan den Dunnen
00051795	-	-	-	-	-	United States	-	-	-	-	-	?	cancer, breast	1	96	Johan den Dunnen
00051796	-	-	-	-	-	United States	-	-	-	-	-	?	cancer, breast	2	4	Johan den Dunnen
00051797	-	-	-	-	-	United States	-	-	-	-	-	?	cancer, breast	1	49	Johan den Dunnen
00051798	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	3	44	Johan den Dunnen
00051799	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	2	21	Johan den Dunnen
00051800	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	4	19	Johan den Dunnen
00051801	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	2	10	Johan den Dunnen
00051802	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	1	10	Johan den Dunnen
00051803	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	5	9	Johan den Dunnen
00051804	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	5	8	Johan den Dunnen
00051805	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	4	8	Johan den Dunnen
00051806	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	6	7	Johan den Dunnen
00051807	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	4	3	Johan den Dunnen
00051808	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	2	3	Johan den Dunnen
00051809	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	3	2	Johan den Dunnen
00051810	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	3	1	Johan den Dunnen
00051811	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	7	1	Johan den Dunnen
00051812	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	6	1	Johan den Dunnen
00051813	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	5	1	Johan den Dunnen
00051814	-	-	-	-	-	Ethiopia	-	-	-	-	-	Healthy/Control	-	4	1	Johan den Dunnen
00051815	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00051816	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00051817	-	-	3-generation family, 8 unaffected carriers	-	no	Turkey	-	-	-	-	-	Healthy/Control	-	1	8	Johan den Dunnen
00051818	-	-	2-generation family, 2 affected father/son	-	yes	Turkey	-	-	-	-	-	GLC	glaucoma, congenital	2	2	Johan den Dunnen
00051819	-	-	2-generation family, unaffected carrier mother/daugther	-	yes	Turkey	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00051820	-	-	2-generation family, unaffected carrier parents/2 sisters	-	yes	Turkey	-	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00051821	-	-	2-generation family, 4 affected sibs	-	yes	Turkey	-	-	-	-	-	GLC	glaucoma, congenital	2	4	Johan den Dunnen
00051822	-	-	2-generation family, 4 unaffected carriers	-	yes	Turkey	-	-	-	-	-	Healthy/Control	-	1	4	Johan den Dunnen
00051823	-	-	2-generation family, unaffected carrier parents/brother	-	yes	Turkey	-	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00051824	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	2	7	Johan den Dunnen
00051825	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	1	36	Johan den Dunnen
00051826	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	4	9	Johan den Dunnen
00051827	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	2	40	Johan den Dunnen
00051828	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	2	11	Johan den Dunnen
00051829	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	1	35	Johan den Dunnen
00051830	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	2	7	Johan den Dunnen
00051831	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	1	34	Johan den Dunnen
00051832	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	2	51	Johan den Dunnen
00051833	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	1	39	Johan den Dunnen
00051834	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	2	9	Johan den Dunnen
00051835	-	-	-	-	-	Turkey;United Kingdom (Great Britain)	-	-	-	-	-	Healthy/Control	-	1	39	Johan den Dunnen
00051836	-	-	-	-	?	-	-	-	-	-	-	Healthy/Control	-	3	1	Johan den Dunnen
00051837	-	PubMed: Stoilov 1998	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/3 sibs	M	no	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	2	2	Johan den Dunnen
00051838	-	PubMed: Stoilov 1998	2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/brother	-	no	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	1	2	Johan den Dunnen
00051839	-	PubMed: Stoilov 1998	2-generation family, 2 sisters, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	2	2	Johan den Dunnen
00051840	-	-	2-generation family, 2 affecteds	-	yes	Turkey	-	-	-	-	-	GLC	glaucoma, congenital, primary (PCG)	2	2	Johan den Dunnen
00051841	-	PubMed: Stoilov 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents/2 sibs	M	yes	Canada	French Canadian	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	1	1	Johan den Dunnen
00051842	-	PubMed: Stoilov 1998	2-generation family, 1 affected, unaffected heterozygous carrier parents/brother	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	2	1	Johan den Dunnen
00051843	-	PubMed: Stoilov 1998	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/sister	F	no	Turkey	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	1	2	Johan den Dunnen
00051844	-	PubMed: Stoilov 1998	2-generation family, 2 affecteds, unaffected heterozygous carrier parents	F	no	United States	Hispanic	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	2	2	Johan den Dunnen
00051845	-	-	2-generation family, unaffected carrier parent	-	no	United States	Hispanic	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00051846	-	PubMed: Stoilov 1998	2-generation family, affected brother/sister, unaffected heterozygous carrier mother, father non-carrier	-	no	United States	-	-	-	-	-	GLC3A	early onset (0–3y) aggressive glaucoma, increased IOP, corneal edema, excessive tearing, photophobia, buphthalmos, cloudy cornea	1	2	Johan den Dunnen
00051847	-	-	2-generation family, unaffected carrier parents/brother	-	no	Canada	French	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00051848	-	-	2-generation family, unaffected carrier parents/half-sister	-	yes	Canada	French	-	-	-	-	Healthy/Control	-	1	3	Johan den Dunnen
00051849	-	-	2-generation family, unaffected carrier parents/sister/2 brothers	-	yes	United Kingdom (Great Britain)	Pakistani	-	-	-	-	Healthy/Control	-	1	5	Johan den Dunnen

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Global Variome shared LOVD

CYP1B1 (cytochrome P450, family 1, subfamily B, pol...)