Disease #05389 (SWNTS (Schwannomatosis (SWNTS)))

Official abbreviation	SWNTS
Name	Schwannomatosis (SWNTS)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	89
Phenotype entries for this disease	88
Associated with 3 genes	LZTR1, NF2, SMARCB1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-02-01 14:09:26 +01:00 (CET)
Date last edited	N/A

Individuals

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

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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'

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89 entries on 1 page. Showing entries 1 - 89.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00174286	-	PubMed: Hulsebos TJ 2007	-	F	-	-	-	-	-	-	-	SWNTS	multiple sites	SMARCB1	SMARCB1	1	1	Julia Lopez
00174287	I1, Fam1	PubMed: Hadfield KD 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174288	II1, Fam1	PubMed: Hadfield KD 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174289	II3, Fam1	PubMed: Hadfield KD 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174290	-	PubMed: Wu J 2015	-	M	-	-	-	-	-	-	-	SWNTS	spinal	SMARCB1	SMARCB1	1	1	Julia Lopez
00174291	-	PubMed: Wu J 2015	-	F	-	-	-	-	-	-	-	SWNTS	vestibularis	SMARCB1	SMARCB1	1	1	Julia Lopez
00174292	Fam3, Pat1	PubMed: Hadfield KD 2008	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174293	Fam3, Pat2	PubMed: Hadfield KD 2008	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174294	Fam3, Pat3	PubMed: Hadfield KD 2008	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174295	Fam3, Pat4	PubMed: Hadfield KD 2008	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174296	-	PubMed: Hulsebos TJ 2007	-	M	-	-	-	-	-	-	-	SWNTS	multiple sites	SMARCB1	SMARCB1	1	1	Julia Lopez
00174297	II1, Fam2	PubMed: Hadfield KD 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174298	II2, Fam2	PubMed: Hadfield KD 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174299	I1, Fam2	PubMed: Hadfield KD 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174300	-	PubMed: Bacci C 2010	-	M	-	-	-	-	-	-	-	SWNTS	PNS	SMARCB1	SMARCB1	1	1	Julia Lopez
00174301	-	PubMed: Swensen JJ 2009	first family reported with co-occuring MRT + schwannomatosis	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174302	-	PubMed: Swensen JJ 2009	first family reported with co-occuring MRT + schwannomatosis	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174303	-	PubMed: Swensen JJ 2009	first family reported with co-occuring MRT + schwannomatosis	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174304	Fam4	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174305	Fam4	PubMed: Boyd 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174306	Fam9	PubMed: Boyd 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174307	-	PubMed: Hulsebos TJ 2014	-	F	-	-	-	-	-	-	-	SWNTS	history of multiple schwannomas	SMARCB1	SMARCB1	1	1	Julia Lopez
00174308	Fam9	PubMed: Boyd 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174309	Fam9	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174310	PA-1	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174311	PA-1	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174312	E	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174313	E	PubMed: Boyd 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174314	11	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174315	11	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174316	PA-3	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174317	PA-3	PubMed: Boyd 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174318	-	PubMed: Hulsebos TJ 2014	-	F	-	-	-	-	-	-	-	SWNTS, UL	leimoyoma of uterine cervix, spinal, PNS, vaginal	SMARCB1	SMARCB1	1	1	Julia Lopez
00174319	PA-3	PubMed: Boyd 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174320	19	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174321	-	PubMed: Carter JM 2012	-	F	-	-	-	-	-	-	-	SWNTS	(neuroblastoma-like morphology); MPNST within the schwannoma, leg	SMARCB1	SMARCB1	1	1	Julia Lopez
00174322	I2	PubMed: Eaton KW 2011	-	-	-	-	-	-	-	-	-	SWNTS	Schwannoma	SMARCB1	SMARCB1	1	1	Julia Lopez
00174323	II1	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	SWNTS	Schwannoma	SMARCB1	SMARCB1	1	1	Julia Lopez
00174324	Fam4	PubMed: Hadfield KD 2008	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174325	Fam5	PubMed: Hadfield KD 2008	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174326	-	PubMed: Hadfield KD 2008	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174327	-	PubMed: Smith MJ 2012	-	-	-	-	-	-	-	-	-	SWNTS	familial	SMARCB1	SMARCB1	1	1	Julia Lopez
00174328	-	PubMed: Smith MJ 2012	-	-	-	-	-	-	-	-	-	SWNTS	familial	SMARCB1	SMARCB1	1	1	Julia Lopez
00174329	II2	PubMed: Hulsebos TJ 010,	first case of germ line mosaicism in schwannomatosis	M	-	-	-	-	-	-	-	SWNTS	four spinal	SMARCB1	SMARCB1	1	1	Julia Lopez
00174330	-	PubMed: Sestini R 2008	-	M	-	-	-	-	-	-	-	SWNTS	multiple sites	SMARCB1	SMARCB1	1	1	Julia Lopez
00174331	sporad10	PubMed: Hadfield KD 2008	-	?	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174332	-	PubMed: Rousseau G 2011	-	F	-	-	-	-	-	-	-	SWNTS	11 non-vestibular	SMARCB1	SMARCB1	1	1	Julia Lopez
00174333	-	PubMed: Rousseau G 2011	-	M	-	-	-	-	-	-	-	SWNTS	unilateral V-, VII- and spinal schwannomas	SMARCB1	SMARCB1	1	1	Julia Lopez
00174334	-	PubMed: Smith MJ 2012	-	-	-	-	-	-	-	-	-	SWNTS	sporadic	SMARCB1	SMARCB1	1	1	Julia Lopez
00174335	-	PubMed: Smith MJ 2014	-	-	-	-	-	-	-	-	-	SWNTS	sporadic	SMARCB1	SMARCB1	1	1	Julia Lopez
00174336	-	PubMed: Smith MJ 2014	-	-	-	-	-	-	-	-	-	SWNTS	sporadic	SMARCB1	SMARCB1	1	1	Julia Lopez
00174337	-	PubMed: Smith MJ 2014	-	-	-	-	-	-	-	-	-	SWNTS	sporadic	SMARCB1	SMARCB1	1	1	Julia Lopez
00174338	-	PubMed: Hulsebos TJ 2016	-	M	-	-	-	-	-	-	-	RCCP1, SWNTS	, multiple schwannomas	SMARCB1	SMARCB1	1	1	Julia Lopez
00174339	II1	PubMed: Hulsebos TJ 010,	-	M	-	-	-	-	-	-	-	SWNTS	one spinal	SMARCB1	SMARCB1	1	1	Julia Lopez
00174340	-	PubMed: Paganini I 2015	-	F	-	-	-	-	-	-	-	SWNTS, ULMS	, uterine leiomyosarcoma	SMARCB1	SMARCB1	1	1	Julia Lopez
00174341	3	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174342	3	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174343	5	PubMed: Boyd 2008	-	M	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174344	5	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174345	10	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174346	10	PubMed: Boyd 2008	-	F	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174347	-	PubMed: Smith MJ 2014	-	-	-	-	-	-	-	-	-	SWNTS	familial / Malignant peripheral nerve sheath tumor (MPNST)	SMARCB1	SMARCB1	1	1	Julia Lopez
00174348	-	PubMed: Gossai N 2015	-	M	-	-	-	-	-	-	-	CSS, SWNTS	, multiple sites	SMARCB1	SMARCB1	1	1	Julia Lopez
00174349	-	PubMed: Asai K 2015	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174350	Fam1	PubMed: Melean G 2012	-	M	-	-	-	-	-	-	-	SWNTS	6 spinal, 7 PNS, multiple cutaneous	SMARCB1	SMARCB1	1	1	Julia Lopez
00174351	-	PubMed: Asai K 2015	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174352	-	PubMed: Asai K 2015	-	-	-	-	-	-	-	-	-	SWNTS	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00174353	Fam1	PubMed: Melean G 2012	-	M	-	-	-	-	-	-	-	SWNTS	1 sciatic, 1 cellular, 6 spinal, 1 orbital, 4 PNS, multiple	SMARCB1	SMARCB1	1	1	Julia Lopez
00174354	Fam2	PubMed: Melean G 2012	-	M	-	-	-	-	-	-	-	SWNTS	multiple spinal	SMARCB1	SMARCB1	1	1	Julia Lopez
00174356	III12	PubMed: van den Munckhof P 2012	-	F	-	-	-	-	-	-	-	meningioma, SWNTS	, 1 spinal, 1 falx	SMARCB1	SMARCB1	1	1	Julia Lopez
00174357	III15	PubMed: van den Munckhof P 2012	-	F	-	-	-	-	-	-	-	meningioma, SWNTS	, NC	SMARCB1	SMARCB1	1	1	Julia Lopez
00174358	III16	PubMed: van den Munckhof P 2012	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	, 1 falx	SMARCB1	SMARCB1	1	1	Julia Lopez
00174359	Fam1	PubMed: Melean G 2012	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	(fibroblastic) spinal, schwannoma: 2 spinal, 1 mandibular, multiple subcutaneous	SMARCB1	SMARCB1	1	1	Julia Lopez
00174360	-	PubMed: Bacci C 2010	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	2 spinal, 1 abdominal, cranial	SMARCB1	SMARCB1	1	1	Julia Lopez
00174361	-	PubMed: Bacci C 2010	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	, multiple sites incl. IC	SMARCB1	SMARCB1	1	1	Julia Lopez
00174362	-	PubMed: Smith MJ 2012	-	-	-	-	-	-	-	-	-	SWNTS	multiple schwannomas, 1 meningeoma	SMARCB1	SMARCB1	1	1	Julia Lopez
00174363	-	PubMed: Rousseau G 2011	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	, multiple schwannomas and meningeomas	SMARCB1	SMARCB1	1	1	Julia Lopez
00174364	III17	PubMed: van den Munckhof P 2012	-	F	-	-	-	-	-	-	-	meningioma, SWNTS	, 1 falx	SMARCB1	SMARCB1	1	1	Julia Lopez
00174365	IV2	PubMed: van den Munckhof P 2012	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	, 3 spinal	SMARCB1	SMARCB1	1	1	Julia Lopez
00174366	IV4	PubMed: van den Munckhof P 2012	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	, 1 falx	SMARCB1	SMARCB1	1	1	Julia Lopez
00174368	II3	PubMed: van den Munckhof P 2012	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	, 1 spinal, 3 falx	SMARCB1	SMARCB1	1	1	Julia Lopez
00174369	III1	PubMed: van den Munckhof P 2012	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	, 1 falx	SMARCB1	SMARCB1	1	1	Julia Lopez
00174370	III7	PubMed: van den Munckhof P 2012	-	F	-	-	-	-	-	-	-	meningioma, SWNTS	, 1 spinal, 1 falx	SMARCB1	SMARCB1	1	1	Julia Lopez
00174371	III10	PubMed: van den Munckhof P 2012	-	M	-	-	-	-	-	-	-	meningioma, SWNTS	, NC	SMARCB1	SMARCB1	1	1	Julia Lopez
00206927	-	-	-	F	-	Italy	-	12y	-	-	-	SWNTS	-	LZTR1, NF1, NF2, SMARCB1, SPRED1	LZTR1	1	1	Marica Eoli
00206928	-	-	-	M	-	-	-	06y	-	-	-	SWNTS	-	LZTR1, NF1, NF2, SMARCB1, SPRED1	LZTR1	1	1	Marica Eoli
00206929	-	-	-	F	-	Italy	-	48y	-	-	-	SWNTS	-	LZTR1, NF1, NF2, SMARCB1, SPRED1	LZTR1	1	1	Marica Eoli
00372032	176731	-	-	M	?	-	-	-	-	-	-	SWNTS	Multiple café au lait spots, impulsive behavioural disorder, adjustment disorder, cognitive development and language development rather slow, concentration problems.	BRCA1, CHEK2, NTHL1	BRCA1, CHEK2, NTHL1	3	1	Andreas Laner
00402449	-	Perez-Becerril et al. (submitted for publication)	-	-	-	-	-	-	-	-	-	CMM2, SWNTS	-	CDKN2A, CDKN2B, COQ6, DGCR8, LZTR1, NF2, SMARCB1	CDKN2A, SMARCB1	2	1	Cristina Perez-Becerril

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Global Variome shared LOVD

FN1 (fibronectin 1)