All individuals with variants in gene TSC1

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.

2515 entries on 26 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		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
00000019	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	autism, BMD/DMD, TSC	-	1	1	Global Variome, with Curator vacancy
00000029	-	PubMed: Almomani 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00038387	-	-	-	M	no	United States	-	-	-	-	-	TSC	angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719)	1	1	Sonal Desai
00038388	-	-	-	M	no	United States	-	-	-	-	-	TSC	cortical tubers, angiomyolipomas (≥2, HP:0006772);cardiac rhabdomyoma (HP:0009729);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);Shagreen patch (HP:0009721);subependymal giant cell astrocytoma (HP:0009718)	1	1	Sonal Desai
00038389	-	-	-	M	no	-	-	-	-	-	-	TSC	cortical tubers, hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716)	1	1	Sonal Desai
00038392	-	-	-	M	-	United States	-	-	-	-	-	TSC	dental enamel pits (>3, HP:0009722);hypomelanotic macules (≥3, at least 5-mm diameter, HP:0009719);subependymal giant cell astrocytoma (HP:0009718);subependymal nodules (HP:0009716);ungual fibromas (≥2, HP:0100804), cortical tubers and white matter radial migration lines	1	1	Sonal Desai
00038393	-	-	-	F	no	United States	-	-	-	-	-	TSC	cortical tubers, angiofibromas (≥3, HP:0010615) or fibrous cephalic plaque;multiple renal cysts (HP:0000107);Shagreen patch (HP:0009721)	1	1	Sonal Desai
00165194	-	-	TSC suspected	-	-	-	-	-	-	-	-	TSC	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00180191	29286531-Pat43	PubMed: Tumienė 2018	-	-	-	(Slovenia)	-	-	-	-	-	?	Epilepsy, tonic-clonic seizures (HP:0025190), cortical tubers (HP:0009717), facial angiofibromas (HP:0009720), intellectual disability (HP:0001249).	1	1	Johan den Dunnen
00180193	29286531-Pat45	PubMed: Tumienė 2018	-	-	-	(Slovenia)	-	-	-	-	-	?	Epilepsy, intellectual disability (HP:0001249), cortical tubers (HP:0009717).	1	1	Johan den Dunnen
00208790	-	-	-	F	-	Germany	-	-	-	-	-	TSC	HP:0000951 (Abnormality of the skin); HP:0001028 (Hemangioma); HP:0010786 (Urinary tract neoplasm); HP:0001250 (Seizures); HP:0005584 (Renal cell carcinoma); HP:0012638 (Abnormality of nervous system physiology); HP:0007620 (Cutaneous leiomyoma)	1	1	Andreas Laner
00222966	-	unpublished	7bp deletion of CGTCTCC described as 818_824del7bp	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222967	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222968	-	unpublished	patient also has TSC2 missense c.1747G>A	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222969	-	unpublished	6th case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222970	-	unpublished	3rd case reported; patient has TSC1 c.965T>C	F	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222971	-	unpublished	7th case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222972	-	unpublished	-	M	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222973	-	unpublished	patient has TSC2 c.4990-6G>A	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222974	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222975	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222976	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222977	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222978	-	unpublished	4th case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222979	-	unpublished	3rd case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222980	-	unpublished	3rd case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222981	-	unpublished	patient has known TSC1 missense c.965T>C and TSC1 silent variant c.1335A>G	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222982	-	unpublished	patient has TSC2 frameshift c.731_732del	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222983	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222984	-	unpublished	patient also has TSC2 nonsense c.1874C>G	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222985	-	unpublished	different case to that in Jones, 1997	F	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222986	-	unpublished	all cases different from those in Jones, 1997	?	-	-	-	-	-	-	-	TSC	-	1	70	Rosemary Ekong
00222987	-	unpublished	variant seen in unaffected parent of an affected child	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222988	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222989	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222990	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222991	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222992	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222993	-	PubMed: Mozaffari, 2009; PubMed: Hoogeveen-Westerveld, 2011	no other variant found	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222994	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222995	-	unpublished	-	M	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222996	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222997	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222998	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00222999	-	unpublished	3rd patient	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223000	-	unpublished	4th patient	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223001	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223002	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223003	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223004	-	unpublished	patient also has known TSC2 in-frame deletion c.4525_4527del	F	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223005	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223006	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223007	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223008	-	unpublished	patient has TSC1 silent variant c.1776G>T	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223009	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223010	-	unpublished	2nd patient	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223011	-	unpublished	2nd case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223012	-	unpublished	3rd case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223013	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223014	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223015	-	unpublished	patient has TSC1 silent variant c.1335A>G, TSC2 missense c.4930G>C and TSC2 silent variant c.4959C>T	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223016	-	unpublished	patient has 2 major TS features in addition to epilepsy; sibling tested and variant not found; clinically unaffected parents; no indication if parents tested	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223017	-	unpublished	different case to that in Jones, 1997	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223018	-	unpublished; PubMed: Hoogeveen-Westerveld, 2011	affects last base of exon; might affect splicing	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223019	-	unpublished	patient also has known TSC1 variants c.965T>C and c.1335A>G	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223020	-	PubMed: Mozaffari, 2009; PubMed: Hoogeveen-Westerveld, 2011	no other variant found	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223021	-	unpublished	5th patient	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223022	-	unpublished	no mutation found	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223023	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223024	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223025	-	unpublished	another patient	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223026	-	unpublished	4th case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223027	-	unpublished	variant seen in one case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223028	-	unpublished	patient has TSC2 frameshift c.1642_1643del	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223029	-	unpublished	variant seen in one patient	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223030	-	unpublished	seen in one case	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223031	-	unpublished	variant seen in one case; patient has TSC1 nonsense c.1777A>T	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223032	-	unpublished	patient also has 2 other missense changes in TSC2 exon 37 c.4914G>C (p.Lys1638Asn) and c.4916G>T p.(Arg1639Leu)	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223033	-	unpublished	seen in 3 patients	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223034	-	unpublished	rare polymorphism seen in 4 cases; 1/4 has nonsense mutation in TSC2 exon 33 (c.4375C>T, p.Arg1459X); does not include case reported in Jones, 1997;	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223035	-	unpublished	seen in 25 patients; does not include case in Jones, 1997	?	-	-	-	-	-	-	-	TSC	-	1	25	Rosemary Ekong
00223036	-	unpublished	Ala943 silent; all cases different from those in Jones, 1997;	?	-	-	-	-	-	-	-	TSC	-	1	63	Rosemary Ekong
00223037	-	unpublished	Glu445 silent; all cases different from those in Jones, 1997; one patient has nonsense mutation;	?	-	-	-	-	-	-	-	TSC	-	1	81	Rosemary Ekong
00223038	-	unpublished	patient also has TSC2 missense c.1004C>G	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223039	-	unpublished	different patient;variant not seen in both parents	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223040	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223041	-	unpublished	patient has TSC1 variants (c.965T>C and c.1335A>G) and TSC2 variants (c.5202T>C, c.5161-10A>C and c.5397G>C)	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223042	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223043	-	PubMed: Mozaffari, 2009; PubMed: Hoogeveen-Westerveld, 2011	patient has known polymorphisms in TSC1 c.2829C>T (p.Ala943, exon 22) and in TSC2 c.1600-39C>T (exon 15), c.5161-10A>C (exon 40), c.5202T>C (p.Asp1734, exon 40) and c.5260-49C>T (exon 41)	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223044	-	unpublished	patient has TSC2 c.1600-39C>T and c.5202T>C	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223045	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223046	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223047	-	unpublished	patient has TSC2 c.976-63G>A, TSC2 missense c.5117G>A and TSC2 c.5161-10A>C	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223048	-	unpublished	patient has TSC2 in-frame deletion c.1973_1975del	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223049	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223050	-	unpublished	patient has TSC2 silent variant c.5202T>C	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223051	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223052	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223053	-	unpublished	-	M	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong
00223054	-	unpublished	-	?	-	-	-	-	-	-	-	TSC	-	1	1	Rosemary Ekong

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Global Variome shared LOVD

TSC1 (tuberous sclerosis 1)