All individuals with variants in gene SMARCB1

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:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

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))
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. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.

Age/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.

343 entries on 4 pages. Showing entries 1 - 100.

	Legend	« First	‹ Prev		1	2	3	4		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age/Death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00001503	-	-	-	M	-	-	-	-	-	-	-	CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORP, USH-3B	inguinal hernia bilateral, 3 hypomelanitic maculae.	2	1	Gijs Santen
00001504	-	-	-	F	-	-	-	-	-	-	-	CSS	afwijkend ribskelet (vertaling), bifid xyphoid, hypoplastic midface, coarse facial features, low hairlines, horseshoe kidney	2	1	Gijs Santen
00001511	-	-	-	F	-	-	-	-	-	-	-	CSS	haemangioma (in sacral area)	3	1	Gijs Santen
00001514	-	-	-	F	-	-	-	-	-	-	-	CSS	camptodactyly 5th fingers & 2nd-3rd toes, fan-shaped toes arrangement, sandal gap, short 5th metatarsal, - ,fan-shaped toes arrangement, + (very wide), +; social unripeness; 20y-Ca colli uteri (clear cell adenocarcionoma)	1	1	Gijs Santen
00001521	-	-	-	M	-	-	-	-	-	-	-	CSS	Cryptorchidism,Hernia umbilicus	2	1	Gijs Santen
00001522	-	-	-	M	-	-	-	-	-	-	-	CSS	Light skin, inquinal hernia (on right side), Umbilical hernia, Pes planus, Short neck	2	1	Gijs Santen
00001526	-	-	-	M	-	-	-	-	-	-	-	CSS	-	1	1	Gijs Santen
00001529	-	-	-	M	-	-	-	-	-	-	-	CSS	neonatal breathing diffiuclites, gastroesophageal reflux, fundoplication, chronic lung disease and bronchiectasis and lots of respiratory secretions, with secondary pulmonary hypertension, Oxygen dependent,Cryporchidism,Pubic hair since age 6y,Nasal obstruction, bilateral coax vara, no crying, dry fragile skin in infancy, asthma/hayfever, gynaecomastia, brachycephaly, thick guns, small down-slanting palpebral fissures, small chin, prominent fetal finger pads when younger, optic nerve hypoplasia	2	1	Gijs Santen
00001532	-	-	-	F	-	-	-	-	-	-	-	CSS	hypopigmented patch, triangular face, pointed chin, mild knee contractures, broad thumbs/halluces, squared off fingers/toes, tight Achilles, excitable, short concentration	2	1	Gijs Santen
00001535	-	-	-	F	-	-	-	-	-	-	-	CSS	tantrums, long hands and feet,Sacral dimple,Stridor in first week,Extra front tooth,Enlarged labia,Gluten sensitivity,Lactose intolerance,Sllep difficulties,Plaigocephaly,Brachycephaly,Bulbous nasal tip,Long nose,Pointed chin	1	1	Gijs Santen
00001539	-	-	-	M	-	-	-	-	-	-	-	CSS	Slightly coarse. Puffy under eyes. Mother has optic disc coloboma and nystagmus (but no DD,LD or other health problems )so eye signs likely unrelated,?,?,?,?,?,?,?,?,?,?,?,?,?,?,?, 1st tooth at 1y	1	1	Gijs Santen
00001541	-	-	-	F	-	-	-	-	-	-	-	CSS	Tracheomalacia in infancy	1	1	Gijs Santen
00001542	-	-	-	F	-	-	-	-	-	-	-	CSS	-	1	1	Gijs Santen
00001546	-	-	-	F	-	-	-	-	-	-	-	CSS	-	2	1	Gijs Santen
00037154	-	-	-	-	-	Germany	-	-	0	-	-	?	hereditary tumour syndrome, Ependymome, neurilemma tumour	1	1	Andreas Laner
00037155	-	-	-	-	-	Germany	-	-	0	-	-	-	-	1	1	Andreas Laner
00037156	-	-	-	-	-	Germany	-	-	0	-	-	?	hereditary tumour syndrome, Ependymome, neurilemma tumour	1	1	Andreas Laner
00037157	-	-	-	-	-	Germany	-	-	0	-	-	?	hereditary tumour syndrome, Ependymome, neurilemma tumour	1	1	Andreas Laner
00037158	-	-	-	-	-	Germany	-	-	0	-	-	?	suspected Schwannomatosis, multiple Meningeome	1	1	Andreas Laner
00047313	-	PubMed: Santen et al 2013	-	F	no	United Kingdom (Great Britain)	Caucasian	-	0	-	-	CSS	-	1	1	Gijs Santen
00048017	-	PubMed: Tsurusaki 2012	-	-	-	-	-	-	0	-	-	CSS	-	1	1	LOVD-team, but with Curator vacancy
00048018	-	PubMed: Tsurusaki 2012	-	-	-	-	-	-	0	-	-	CSS	-	1	1	LOVD-team, but with Curator vacancy
00048019	-	PubMed: Tsurusaki 2012	-	-	-	-	-	-	0	-	-	CSS	-	1	1	LOVD-team, but with Curator vacancy
00048020	-	PubMed: Tsurusaki 2012	-	-	-	-	-	-	0	-	-	CSS	-	1	1	LOVD-team, but with Curator vacancy
00048023	-	PubMed: Tsurusaki 2014	-	F	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048024	-	PubMed: Tsurusaki 2014	-	F	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048025	-	PubMed: Tsurusaki 2014	-	M	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048026	-	PubMed: Tsurusaki 2014	-	M	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048027	-	PubMed: Tsurusaki 2014	-	?	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048028	-	PubMed: Tsurusaki 2014	-	?	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048029	-	PubMed: Tsurusaki 2014	-	F	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048030	-	PubMed: Wieczorek 2013	-	M	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048031	-	PubMed: Wieczorek 2013	-	M	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048047	-	PubMed: Santen 2013	-	F	-	-	-	-	-	-	-	CSS	, see paper; …	1	1	Eline van der Sluijs
00048048	-	PubMed: Santen 2013	-	F	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00048049	-	PubMed: Santen 2013	-	M	-	-	-	-	-	-	-	CSS	see paper; …	1	1	Eline van der Sluijs
00050617	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	0	Decipher	-	?	intrauterine growth retardation, global developmental delay, seizures, microcephaly, abnormal facial shape, agenesis of corpus callosum, cerebellar hypoplasia, broad finger, broad toe, abnormality of the fingertips, hypertrichosis, unilateral ptosis, hypothyroidism, persistence of primary teeth, limited shoulder movement, delayed eruption of teeth, short philtrum, wide mouth, thick lower lip vermilion, brachycephaly, brittle scalp hair, slow-growing hair, lumbosacral hirsutism, hyperlordosis, thoracic kyphosis, scoliosis, coarse facial features	1	1	Johan den Dunnen
00104564	Patient 2	Author submited	-	M	no	France	-	00y21m	0	-	-	RTPS-1	-	1	1	Julien Masliah-Planchon
00107735	-	-	-	?	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107736	-	-	-	?	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107737	-	-	-	?	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107738	-	-	-	?	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107739	-	-	-	?	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107740	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107741	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107742	-	-	-	?	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107743	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107744	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107745	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107746	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107747	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107748	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107749	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107750	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107751	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107752	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107753	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107754	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	2	1	Till Holsten
00107755	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107756	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107811	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107812	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107813	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107814	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107815	-	-	-	?	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107816	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107817	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107818	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107819	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107820	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107821	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107822	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107823	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107824	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107825	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107826	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107827	-	-	-	?	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107828	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107829	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107830	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00107831	-	-	-	-	-	Germany	-	-	0	-	-	RTPS-1	-	1	1	Till Holsten
00147123	30631761-Pat88_S3	PubMed: Han 2018	-	-	-	Korea	-	-	0	-	-	developmental delay	developmental delay, no epilepsy, hypotonia	1	1	Joonhong Park
00152023	-	PubMed: Tsurusaki 2012	-	-	-	-	-	-	0	-	-	CSS	-	1	1	Johan den Dunnen
00152024	-	PubMed: Tsurusaki 2012	-	-	-	-	-	-	0	-	-	CSS	-	1	1	Johan den Dunnen
00152025	-	PubMed: Tsurusaki 2012	-	-	-	-	-	-	0	-	-	CSS	-	1	1	Johan den Dunnen
00152027	-	PubMed: Tsurusaki 2012	-	-	-	-	-	-	0	-	-	CSS	-	1	1	Johan den Dunnen
00173920	Family 9 : III1	PubMed: Ammerlaan AC 2008	-	M	-	-	-	-	0	-	-	RTPS-1	myoepithelioma (at 26y), further: intracranial meningioma (at 25y) but without INI1-loss, thought to be induced by radiotherapy	1	1	Julia Lopez
00173921	22	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173922	23	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173923	2	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173924	6	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173925	12	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173926	13	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173927	14	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173928	17	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173929	02-066	PubMed: Eaton KW 2011	-	F	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173930	-	PubMed: Kordes 2010	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173931	Family 7	PubMed: Swensen JJ 2009	-	F	-	-	-	2y	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173932	-	PubMed: Kordes 2010	-	-	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez
00173933	09-131	PubMed: Eaton KW 2011	-	M	-	-	-	-	0	-	-	RTPS-1	-	1	1	Julia Lopez

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Global Variome shared LOVD

SMARCB1 (SWI/SNF related, matrix associated, actin ...)

All individuals with variants in gene SMARCB1

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