Disease #00755 (RTPS1 (tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1)), OMIM:609322)

Official abbreviation	RTPS1
Name	tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1)
OMIM ID	609322
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	149
Phenotype entries for this disease	148
Associated with 1 gene	SMARCB1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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
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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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149 entries on 2 pages. Showing entries 1 - 100.

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

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
00047879	-	-	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCA4	SMARCA4	1	1	Global Variome, with Curator vacancy
00047880	-	-	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCA4	SMARCA4	1	1	Global Variome, with Curator vacancy
00104564	Patient 2	Author submited	-	M	no	France	-	00y21m	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julien Masliah-Planchon
00107735	-	-	-	?	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107736	-	-	-	?	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107737	-	-	-	?	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107738	-	-	-	?	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107739	-	-	-	?	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107740	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107741	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107742	-	-	-	?	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107743	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107744	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107745	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107746	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107747	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107748	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107749	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107750	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107751	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107752	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107753	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107754	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	2	1	Till Holsten
00107755	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107756	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107811	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107812	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107813	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107814	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107815	-	-	-	?	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107816	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107817	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107818	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107819	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107820	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107821	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107822	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107823	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107824	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107825	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107826	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107827	-	-	-	?	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107828	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107829	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107830	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00107831	-	-	-	-	-	Germany	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Till Holsten
00173920	Family 9 : III1	PubMed: Ammerlaan AC 2008	-	M	-	-	-	-	-	-	-	RTPS1	myoepithelioma (at 26y), further: intracranial meningioma (at 25y) but without INI1-loss, thought to be induced by radiotherapy	SMARCB1	SMARCB1	1	1	Julia Lopez
00173921	22	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173922	23	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173923	2	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173924	6	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173925	12	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173926	13	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173927	14	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173928	17	PubMed: Bourdeaut F 2011	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173929	02-066	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173930	-	PubMed: Kordes 2010	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173931	Family 7	PubMed: Swensen JJ 2009	-	F	-	-	-	2y	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173932	-	PubMed: Kordes 2010	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173933	09-131	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173934	Single patients	PubMed: Metts 2017	-	F	-	-	-	-	-	-	-	RTPS1	AML/ it	SMARCB1	SMARCB1	1	1	Julia Lopez
00173935	-	SMARCB1 database	-	F	-	-	-	-	-	-	-	RTPS1	it	SMARCB1	SMARCB1	1	1	Julia Lopez
00173936	-	SMARCB1 database	-	F	-	-	-	-	-	-	-	RTPS1	it + spinal metastases	SMARCB1	SMARCB1	1	1	Julia Lopez
00173937	-	SMARCB1 database	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173938	IV.2	PubMed: Swensen JJ 2009	-	F	-	-	-	02y	-	-	-	RTPS1	-	SMARCB1	SMARCB1	2	1	Julia Lopez
00173939	-	PubMed: Taylor MD 2000	-	M	-	-	-	-	-	-	-	RTPS1	it	SMARCB1	SMARCB1	1	1	Julia Lopez
00173940	-	PubMed: Janson K 2006	-	M	-	-	-	-	-	-	-	RTPS1	it	SMARCB1	SMARCB1	1	1	Julia Lopez
00173941	-	PubMed: Janson K 2006	-	M	-	-	-	-	-	-	-	RTPS1	it	SMARCB1	SMARCB1	1	1	Julia Lopez
00173942	9F1	PubMed: Bruggers CS 2011	-	M	-	-	-	-	-	-	-	RTPS1	it	SMARCB1	SMARCB1	1	1	Julia Lopez
00173943	10F1	PubMed: Bruggers CS 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173944	11F1	PubMed: Bruggers CS 2011	-	F	-	-	-	-	-	-	-	RTPS1	st	SMARCB1	SMARCB1	1	1	Julia Lopez
00173945	13F2	PubMed: Bruggers CS 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173947	14F2	PubMed: Bruggers CS 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173948	19F5	PubMed: Bruggers CS 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173949	-	PubMed: Kordes U 2014	-	F	-	-	-	-	-	-	-	RTPS1	it	SMARCB1	SMARCB1	1	1	Julia Lopez
00173950	F 3.1 Family 3	PubMed: Bourdeaut F 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173951	F4.1 Family 4	PubMed: Bourdeaut F 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173952	F5.1 Family 5	PubMed: Bourdeaut F 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173953	F5.2 Family 5	PubMed: Bourdeaut F 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173954	Family 8 : III1	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173955	case16	PubMed: Fujisawa H 2005	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173956	-	PubMed: Sévenet N 1999	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173958	-	PubMed: Sévenet N 1999	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173959	-	PubMed: Sévenet N 1999	-	-	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173960	98-074	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173961	07-367	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173962	08-187	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173963	09-223	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173964	06-249	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173965	04-064	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173966	01-247	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173967	06-216	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173969	07-313	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173970	09-289	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173971	09-312	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173972	-	PubMed: Eaton KW 2011	-	M	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173973	09-359	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173974	09-261	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173975	09-013	PubMed: Eaton KW 2011	-	F	-	-	-	-	-	-	-	RTPS1	-	SMARCB1	SMARCB1	1	1	Julia Lopez
00173976	-	PubMed: Kordes 2010	-	F	-	-	-	-	-	-	-	RTPS1	it	SMARCB1	SMARCB1	1	1	Julia Lopez

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Global Variome shared LOVD

POLG (polymerase (DNA directed), gamma)