All individuals with variants in gene RB1

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.

85 entries on 1 page. Showing entries 1 - 85.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00019836	-	PubMed: Gilissen 2014	-	?	?	-	-	-	-	-	-	ID	-	1	1	Marianne Vos (LOVD-team)
00100098	PKRD176;61176	PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	retinal disease	-	1	1	James Hejtmancik
00104000	Vogelaar-119A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00104018	Vogelaar-529A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00163848	-	-	-	-	-	-	-	-	-	-	-	RB1	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00181225	RB140	-	-	M	-	Thailand	-	-	-	-	-	RB1	HP:0009919, HP:0012683	1	1	Rossukon Kaewkhaw
00181226	RB709	-	-	F	-	Thailand	-	-	-	-	-	RB1	HP:0009919	1	1	Rossukon Kaewkhaw
00181227	RB339	-	-	M	-	Thailand	-	-	-	-	-	RB1	HP:0009919	1	1	Rossukon Kaewkhaw
00181228	RB103	-	-	M	-	Thailand	-	-	-	-	-	RB1	HP:0009919	1	1	Rossukon Kaewkhaw
00181229	RB723	-	-	F	-	Thailand	-	-	-	-	-	RB1	HP:0009919	1	1	Rossukon Kaewkhaw
00181230	RB380	-	-	F	-	Thailand	-	-	-	-	-	RB1	HP:0009919	1	1	Rossukon Kaewkhaw
00181231	RB214	-	-	F	-	Thailand	-	-	-	-	-	RB1	HP:0009919	1	1	Rossukon Kaewkhaw
00269337	-	-	-	M	-	-	-	-	-	-	-	?	Retinoblastoma (HP:0009919)	1	1	Andreas Laner
00290937	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290938	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	8	Mohammed Faruq
00290939	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290940	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00295146	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295147	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00307140	Patient 03	PubMed: Mendonca 2021	-	F	no	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307141	Patient 05	PubMed: Mendonca 2021	-	M	?	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307142	Patient 06	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307143	Patient 13	PubMed: Mendonca 2021	-	M	?	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307144	Patient16	PubMed: Mendonca 2021	-	F	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307145	Patient 21	PubMed: Mendonca 2021	-	M	no	Brazil	-	-	-	-	-	RB1	Unilateral	3	1	Vanessa Mendonça
00307248	Patient 31	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Bilateral	1	1	Vanessa Mendonça
00307249	Patient 32	PubMed: Mendonca 2021	-	F	-	Brazil	-	-	-	-	-	RB1	Unilateral	2	1	Vanessa Mendonça
00307250	Patient 37	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307252	Patient 46	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307256	Patient 60	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307257	Patient 62	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Unilateral	4	1	Vanessa Mendonça
00307258	Patient 64	PubMed: Mendonca 2021	patient with retinoblastoma	M	-	Brazil	-	-	-	-	-	RB1	Bilateral	1	1	Vanessa Mendonça
00307259	Patient 66	PubMed: Mendonca 2021	-	F	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307260	Patient 75	PubMed: Mendonca 2021	-	F	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307261	Patient 80	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Unilateral	2	1	Vanessa Mendonça
00307262	Patient 86	PubMed: Mendonca 2021	-	M	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00307263	Patient 87	PubMed: Mendonca 2021	-	F	-	Brazil	-	-	-	-	-	RB1	Bilateral	1	1	Vanessa Mendonça
00307276	Patient 29	PubMed: Mendonca 2021	-	F	-	Brazil	-	-	-	-	-	RB1	Unilateral	1	1	Vanessa Mendonça
00328398	690379	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328399	680501	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328400	680258	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00363391	HM639	PubMed: Sun 2015	proband	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379408	-	PubMed: Zhou 2011	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379409	-	PubMed: Zhou 2011	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379410	-	PubMed: Zhou 2011	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384251	13165	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384300	13546	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384301	13548	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384302	13549	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384303	13550	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384332	13728	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384333	13729	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384347	13824	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384359	13940	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384385	14147	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384386	14152	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384387	14154	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384388	14160	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384389	14161	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384390	14162	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384391	14165	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384392	14170	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384405	14349	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384406	14351	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384407	14352	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384408	14354	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384409	14355	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384426	14450	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384427	14452	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384447	14574	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384456	14654	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384461	14674	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384462	14677	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384468	14743	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384469	14744	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384470	14745	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384471	14746	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384485	14837	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00384503	14956	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	RB1	-	1	1	LOVD
00386499	-	PubMed: Nair 2018	patient	-	-	Lebanon	-	-	-	-	-	?	bilateral retinoblastoma (oncological)	1	1	Johan den Dunnen
00416018	Patient II:1	PubMed: Pedurupillay 2016	parents were first-degree cousins	-	-	-	Pakistani	-	-	-	-	retinal disease	best corrected visual acuity: 6/15, 6/24; refraction: 10.5, -2.5 x 180; -10.5, -2.5 x 160; nystagmus: present; photophobia: absent; goldmann perimetry: normal; fundoscopy: changes in optic disc and peripapillary area; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: severe, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: normal	1	1	LOVD
00416019	Patient II:2	PubMed: Pedurupillay 2016	parents were first-degree cousins	-	-	-	Pakistani	-	-	-	-	retinal disease	best corrected visual acuity: 6/20, 6/15; refraction: -9.0, -2.0 x 30, -9.5, -2.5 x 160; nystagmus: present transiently; photophobia: absent; goldmann perimetry: not available; fundoscopy: changes in optic disc and peripapillary area, discreet, small disruptions of retinal pigment epithelium in central fovea; retina: mild myopic changes; macular autofluorescence: mottled; color vision: red-green deficiency: moderate, blue-yellow: normal; electroretinogram: rods: normal; cones single flash: weak; cones 30 Hz flicker: weakoptical coherence tomography, inner/outer segment junction: normal, fovea: norma	1	1	LOVD
00430148	MINAS_03	-	-	F	?	Brazil	-	-	-	-	-	MINAS	HP:0009919, HP:0002858, HP:0100243	1	1	Giovana Torrezan
00444498	Fam	PubMed: Le Gall 2023	2-generation family, affected father/son	M	-	France	-	-	-	-	-	RB1	-	1	1	Johan den Dunnen
00448877	FamPatV2	PubMed: Gregersen 2024	5-generation family, 1 affected, 9 unaffected heterozygous carriers	M	no	Denmark	-	-	-	-	-	RB1	see paper; ..., unilateral retinoblastoma	1	1	Rikke Christensen

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Global Variome shared LOVD

RB1 (retinoblastoma 1)