All individuals with variants in gene FLCN

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.

736 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		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
00003277	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00003285	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00035843	-	-	-	-	-	Germany	-	-	-	-	-	?	Several spontaneous pneumothorax, as her father, fibrofolliculomas	1	1	Andreas Laner
00035844	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035845	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035846	-	-	-	-	-	Germany	-	-	-	-	-	BHDS	Birt-Hogg-Dube-Syndrom; pneumothorax (2x), multiple fibrofolliculomas	1	1	Andreas Laner
00035847	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035848	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035849	-	-	-	-	-	Germany	-	-	-	-	-	?	spontaneous pneumothorax, relapsing spontaneous pneumothorax in family	1	1	Andreas Laner
00035850	-	-	-	-	-	Germany	-	-	-	-	-	?	Pneumothorax, skin anomalies, mother affected.	1	1	Andreas Laner
00035851	-	-	-	-	-	Germany	-	-	-	-	-	?	Pneumothorax, skin anomalies, mother affected.	1	1	Andreas Laner
00035852	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Birt-Hogg-Dubé syndrome	1	1	Andreas Laner
00035853	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035854	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035855	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Birt-Hogg-Dubé-Syndrome; multiple Fibrofolikulome (face and décolleté); family history positive	1	1	Andreas Laner
00035856	-	-	-	-	-	Germany	-	-	-	-	-	BHDS	Birt-Hogg-Dubé-Syndrome with familiar renal cell carcinoma, family history: 3 brothers and sisters with renal cell carcinoma	1	1	Andreas Laner
00035857	-	-	-	-	-	Germany	-	-	-	-	-	Healthy/Control	-	1	1	Andreas Laner
00035858	-	-	-	-	-	Germany	-	-	-	-	-	BHDS	Birt-Hogg-Dube-Syndrome	1	1	Andreas Laner
00035859	-	-	-	-	-	Germany	-	-	-	-	-	BHDS	Birt-Hogg-Dubé-Syndrome with familiar renal cell carcinoma, family history: 3 brothers and sisters with renal cell carcinoma	1	1	Andreas Laner
00035860	-	-	-	-	-	Germany	-	-	-	-	-	BHDS	Birt-Hogg-Syndrom	1	1	Andreas Laner
00047326	-	PubMed: Kashiwada 2012	-	F	-	(Japan)	-	-	-	-	-	MINAS	facial papules <28y; Colon carcinoma and multiple colon polyps 28y; Recurrent pneumothoraces x4. Pulmonary cysts 28y (first one)	1	1	James Whitworth
00048060	83	-	-	M	-	Denmark	-	-	-	-	-	MINAS	testicular seminoma 39y; Phaeochromocytoma 43y; Chromophobe renal cell carcinoma 55y; Gastrointestinal stromal tumour x2 55y; Malignant peripheral nerve sheath tumour 56y; Multiple cutaneous neurofibromas and cafe au lait patches; Recurrent pneumothoraces	1	1	James Whitworth
00048061	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	MINAS	rectal carcinoma 27 y; Gastroesophageal adenocarcinoma 32y; Chromophobe renal cell carcinoma 32y; Facial fibrofolliculomas.	1	1	James Whitworth
00048062	-	-	-	F	-	Denmark	-	-	-	-	-	MINAS	pneumothorax 37y; Endometrial cancer 52y	1	1	James Whitworth
00048063	-	-	-	F	-	Denmark	-	-	-	-	-	MINAS	renal cell carcinoma; Colorectal polyps; Multiple pneumothoraces	1	1	James Whitworth
00048064	-	-	-	M	-	Denmark	-	-	-	-	-	MINAS	facial fibrofolliculomas	1	1	James Whitworth
00048066	-	-	-	F	-	Denmark	-	-	-	-	-	MINAS, PSP	multiple cerebral cavernous heamangiomas 48y; Multinodular goitre 48y; Submandibular oncocytoma 57y; Recurrent pnemothoraces	1	1	James Whitworth
00090564	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090565	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090566	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090567	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090568	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	9	Melissa DeRycke
00090569	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090570	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090571	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090572	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	6	Melissa DeRycke
00090573	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090574	-	-	gene panel study on controls	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	Healthy/Control	-	1	1	Melissa DeRycke
00090575	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	2	Melissa DeRycke
00090576	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090577	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	3	Melissa DeRycke
00090578	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	2	Melissa DeRycke
00090579	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	3	Melissa DeRycke
00090580	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090581	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090582	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00107968	21412933-PatC4	PubMed: Benhammou 2011	-	-	-	United States	-	-	-	-	-	BHDS	perifollicular fibroma, bilateral multifocal kidney (chromophobe)	1	1	Johan den Dunnen
00107969	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00107970	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00107971	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00107972	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00107973	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00107974	21412933-PatA	PubMed: Benhammou 2011	-	-	-	United States	-	-	-	-	-	BHDS	fibrofolliculoma, 2 lung cysts, hypothyroidism	1	1	Johan den Dunnen
00107975	-	-	-	-	-	-	-	-	-	yes	-	BHDS	-	1	1	Derek Lim
00107976	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00107977	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00107978	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	2	1	Derek Lim
00107979	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	1	1	Derek Lim
00107980	-	PubMed: Bessis 2006 PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	Pneumothorax	1	2	Johan den Dunnen
00107981	-	-	Unpublished. For further informaton please contact submitter (see reference).	-	-	-	-	-	-	-	-	BHDS	-	1	1	Lieke Gijezen
00107982	-	-	thyroid cancer	F	-	Japan	-	-	-	-	-	BHDS	pulmonary cysts, pneumothorax, thyroid cancer	1	1	Mitsuko Furuya
00107983	-	PubMed: Cesar 2016	-	-	no	-	-	-	-	-	-	BHDS	, Pneumothorax, lung cysts, fibrofolliculoma	1	1	Johan den Dunnen
00107984	-	PubMed: Schmidt 2005 PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	Fibrofolliculoma	1	1	Johan den Dunnen
00107985	-	-	-	-	-	-	-	-	-	-	-	BHDS	-	1	1	Derek Lim
00107986	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	Pneumothorax, lung cyst, fibrofolliculoma	1	1	Johan den Dunnen
00107987	-	PubMed: Painter 2005	-	-	-	-	-	-	-	-	-	PSP	4/13 had pneumothoraces, 13/13 had lung cysts	1	13	Johan den Dunnen
00107988	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	1	1	Derek Lim
00107989	-	PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	4/10 lung cysts, 1/10 RCC, 9/10 fibrofolliculoma	1	10	Johan den Dunnen
00107990	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	2 out of 3 pneumothoraces, 1 out of 3 RCC, 1 out of 3 fibrofolliculoma	1	3	Johan den Dunnen
00107991	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	2 out of 2 lung cysts, 2 out of 2 fibrofolliculoma	1	2	Johan den Dunnen
00107992	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	1/2 lung cysts, 2/2 fibrofolliculoma	1	2	Johan den Dunnen
00107993	-	PubMed: Houweling et al. 2011	-	-	-	-	-	-	-	-	-	BHDS	2/15 pneumothorax, 1/15 RCC, 1/15 fibrofolliculoma	1	15	Johan den Dunnen
00107994	-	PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	lung cysts, fibrofolliculoma	1	1	Johan den Dunnen
00107995	-	PubMed: Kunogi 2010	Mainly Lung manifestations	-	-	Japan	Japanese	-	-	-	-	BHDS	Pneumothorax, lung cyst	1	1	Johan den Dunnen
00107996	-	PubMed: Nagashima Int J Urol. 2011	Renal tumor/lung cysts. 3-generation family with 1 affected and 2 non-penetrant carriers.	F	-	Japan	Japanese	-	-	-	-	BHDS	Deletion of 18 bp in exon 5 (c.332_349del); BHD (renal tumor/lung cysts)	1	1	Mitsuko Furuya
00107997	-	-	-	-	-	-	-	-	-	-	-	BHDS	-	1	1	Derek Lim
00107998	-	PubMed: Toro 2008, PubMed: Palmirotta 2008	-	-	-	-	-	-	-	-	-	BHDS	-	1	1	Johan den Dunnen
00107999	-	PubMed: Frohlich 2008	-	-	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	1	1	Johan den Dunnen
00108000	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108001	-	PubMed: Cho 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108002	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108003	-	PubMed: Gunji 2007	-	-	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	1	1	Johan den Dunnen
00108004	-	PubMed: Ishi 2009, PubMed: Kunogi 2010	Same patient described in both references	-	-	Japan	Japanese	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	1	1	Johan den Dunnen
00108005	-	PubMed: Nishii T	2-generation family with 3 affected carriers.	F	?	Japan	-	-	-	-	-	BHDS	lung cysts, pneumothorax, skin tumor; BHD (lung cysts, pneumothorax)	1	1	Mitsuko Furuya
00108006	-	PubMed: Gunji 2007	-	-	-	-	-	-	-	-	-	BHDS	Pneumothorax, lung cysts	1	1	Johan den Dunnen
00108007	-	PubMed: Leter 2008	Family of 2: 1 male, 1 female	-	-	Netherlands	-	-	-	-	-	BHDS	1/2 fibrofolliculoma	1	2	Johan den Dunnen
00108008	-	PubMed: Lim 2010	-	-	-	-	-	-	-	-	-	BHDS	-	1	1	Maurice van Steensel
00108009	-	-	minimal skin findings	F	?	-	-	-	-	-	-	BHDS	Multiple lung cysts, recurrent spontaneous pneumothorax, family history of recurrent spontaneous pneumothorax (mother) and clear cell RCC (maternal grandmother); Birt-Hogg-Dube	1	1	Todd Kolb
00108010	-	PubMed: Ren 2008	-	-	-	-	-	-	-	-	-	PSP	Primary Spontaneous Pneumothorax	1	1	Johan den Dunnen
00108011	-	PubMed: Menko 2012	-	-	-	-	-	-	-	-	-	BHDS	-	1	1	Myrovlytis Trust
00108012	-	-	Unpublished. For further information contact derek.lim@bwhct.nhs.uk or e.r.maher@bham.ac.uk	-	-	-	-	-	-	-	-	BHDS	-	1	1	Derek Lim
00108013	-	PubMed: Liu 2014	-	-	no	-	-	-	-	-	-	BHDS	Mainly lung cysts. One affected family member with pneumothorax.	1	4	Johan den Dunnen
00108014	-	PubMed: Naf 2015	Family of 4 members	-	-	-	-	-	-	-	-	BHDS	, 1/2 lung cysts, 2/4 RCC, 1/4 fibrofolliculoma	1	4	Johan den Dunnen
00108015	-	PubMed: Kunogi 2010	-	-	-	Japan	Japanese	-	-	-	-	BHDS	Pneumothorax, lung cyst, fibrofolliculoma	1	1	Johan den Dunnen
00108016	-	PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	Lung cysts, fibrofolliculoma	1	1	Johan den Dunnen
00108017	-	PubMed: Leter 2008, PubMed: Toro 2008	-	-	-	-	-	-	-	-	-	BHDS	2/4 pneumothorax, 4/4 lung cysts, 4/4 fibrofolliculoma	1	4	Johan den Dunnen
00108018	-	PubMed: Kluger 2009	-	-	-	-	-	-	-	-	-	BHDS	2/2 fibrofolliculoma	1	2	Johan den Dunnen
00108019	-	PubMed: Cho 2008	rs2292527	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00108020	-	PubMed: Leter 2008	-	-	-	-	-	-	-	-	-	BHDS	fibrofolliculoma	1	1	Johan den Dunnen
00108021	-	PubMed: Nickerson 2002, PubMed: Schmidt 2005	-	-	-	-	-	-	-	-	-	BHDS	5 out of 8 lung cysts, 1 out of 8 RCC, 7 out of 8 fibrofolliculoma	1	8	Johan den Dunnen

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Global Variome shared LOVD

FLCN (folliculin)