All individuals with variants in gene RLBP1

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.

191 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	Variants	Panel size	Owner
00033170	-	-	-	F	-	-	-	-	-	-	-	retinal disease	retinal degeneration, severe, early onset (EOSRD)	2	1	Kornelia Neveling
00087819	-	PubMed: Neveling 2012	-	F	-	-	-	-	-	-	-	retinal disease	Retinal degeneration, severe, early onset (eosrd)	1	1	Kornelia Neveling
00095954	61064	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	RD	Fundus Albipunctatus, stationary	1	1	James Hejtmancik
00100074	61107	PubMed: Li 2017	-	F	yes	Pakistan	Pakistani	-	-	-	-	RD	Fundus Albipunctatus, stationary	1	1	James Hejtmancik
00155542	-	Sharon, submitted	-	F	no	Israel	Arab-Muslim	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	-	1	1	Dror Sharon
00233292	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233293	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233294	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00233295	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233296	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233297	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233298	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	46	Yoshito Koyanagi
00233299	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233300	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00246596	FamKKESH-099	PubMed: Katsanis 2001	4-generation family, 7 affected males, unaffected non-carrier parents	M	yes	Saudi Arabia	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	see paper; ...	1	7	Johan den Dunnen
00246597	FamPKRP064	PubMed: Naz 2011	5-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	SEE PAPER; ...	1	6	Johan den Dunnen
00246598	FamPKRP107	pathogenic (recessive) PubMed: Naz 2011	4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents	F;M	yes	Pakistan	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	see paper; ...	1	1	Johan den Dunnen
00307824	Fam4	PubMed: Al-Bdour 2020	5-generation family, 11 affected (7F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Jordan	-	-	-	-	-	retinal disease	see paper; ...	1	11	Johan den Dunnen
00307825	Fam5	PubMed: Al-Bdour 2020	5-generation family, 11 affected (5F, 6M), unaffected heterozygous carrier parents/relatives	F;M	yes	Jordan	-	-	-	-	-	retinal disease	see paper; ...	1	11	Johan den Dunnen
00308405	CIC06514	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308550	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308623	-	PubMed: Holtan 2020	1 homozygous patient	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309369	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309370	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309371	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309818	RP517	PubMed: Bocquet 2013	2-generation family, 1 affected	M	yes	France	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309823	RP1682	PubMed: Bocquet 2013	2-generation family, 2 affected brothers	M	-	France	-	-	-	-	-	retinal disease	see paper; ...	1	2	Johan den Dunnen
00328025	G001296	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00333991	476	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2f	1	1	LOVD
00335390	RP055	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362241	?	Fadaie 2021, submitted	-	F	-	Netherlands	-	-	-	-	-	retinal disease	-	2	1	Zeinab Fadaie
00362912	ARRP142	PubMed: Weisschuh 2016	family	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363578	09DG00114	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363614	10DG0529	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363724	12DG2641	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	syndromic	1	1	LOVD
00372680	RP044	PubMed: Xu 2014	family	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372724	RP302	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372738	RP237	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372752	RP401	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00374913	F10-1	PubMed: Huang 2015	-	M	-	China	-	-	-	-	-	retinal disease	best corrected visual acuity 0.25/0.2	1	1	LOVD
00374917	F31-1	PubMed: Huang 2015	-	M	-	China	-	-	-	-	-	retinal disease	best corrected visual acuity 0.8/0.8	1	1	LOVD
00375430	RP#024	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376511	-	PubMed: Singh 2009	-	-	yes	-	Indian	-	-	-	-	retinal disease	typical RP	2	1	LOVD
00376768	30	PubMed: Wang 2014	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377038	-	PubMed: Golovleva-2010	-	-	-	Sweden	-	-	-	-	-	retinal disease	-	2	1	LOVD
00377039	-	PubMed: Golovleva-2010	-	-	-	Sweden	-	-	-	-	-	retinal disease	-	2	1	LOVD
00377040	-	PubMed: Golovleva-2010	-	-	-	Sweden	-	-	-	-	-	retinal disease	-	2	1	LOVD
00377041	-	PubMed: Golovleva-2010	-	-	-	Sweden	-	-	-	-	-	retinal disease	-	2	1	LOVD
00377042	-	PubMed: Golovleva-2010	-	-	-	Sweden	-	-	-	-	-	retinal disease	-	2	1	LOVD
00377043	-	PubMed: Golovleva-2010	unaffected patient's mother 223:3, no signs of retinal degenerative changes	F	-	Sweden	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377044	-	PubMed: Golovleva-2010	-	-	-	Sweden	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377824	-	PubMed: Avila Fernandez 2010	-	-	-	-	Spanish	-	-	-	-	retinal disease	-	2	1	LOVD
00379394	-	PubMed: Collin-2011	-	M	-	Netherlands	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379395	-	PubMed: Collin-2011	-	F	-	Netherlands	Marrocan	-	-	-	-	retinal disease	night blindness and progressive retinal degeneration	1	1	LOVD
00379510	-	PubMed: Littink-2012	-	M	-	Morocco	-	-	-	-	-	retinal disease	Pale optic disc, severely attenuated vasculature, chorioretinal atrophy throughout retina, intraretinal (bone- spicule) pigmentations. Subretinal pigmentations in macula.	1	1	LOVD
00379511	-	PubMed: Littink-2012	-	M	-	Morocco	-	-	-	-	-	retinal disease	Normal optic disc, normal vasculature, white dots scattered throughout mid- periphery.	1	1	LOVD
00379512	-	PubMed: Littink-2012	-	F	-	Morocco	-	-	-	-	-	retinal disease	Normal optic disc, narrow vasculature, small pigmentary changes and small white dots throughout mid-periphery.	1	1	LOVD
00379513	-	PubMed: Littink-2012	-	F	-	Morocco	-	-	-	-	-	retinal disease	Normal optic disc, normal vasculature, typical white dots throughout peripheral retina.	1	1	LOVD
00379514	-	PubMed: Littink-2012	-	M	-	Morocco	-	-	-	-	-	retinal disease	Normal optic disc, narrow vasculature, granular aspect of macula, white dots in peripheral retina. Subtle pigment alterations in periphery.	1	1	LOVD
00379515	-	PubMed: Littink-2012	-	M	-	Netherlands	-	-	-	-	-	retinal disease	Normal disc, normal vessels, mottled pigmentation in mid-periphery, some small yellow- white punctate lesions in posterior pole and periphery.	1	1	LOVD
00379516	-	PubMed: Littink-2012	-	F	-	Netherlands	-	-	-	-	-	retinal disease	Normal optic disc, normal vessels, pigment mottling in the mid-periphery, some small, yellow-white punctate lesions in the peripheral retina (not very numerous).	1	1	LOVD
00379517	-	PubMed: Littink-2012	novel mutation, The variant was heterozygously present in the parents and absent in an unaffected sibling	F	-	Netherlands	-	-	-	-	-	retinal disease	Normal optic disc, narrow vasculature, multiple white dots mostly in mid- periphery, irregular macular reflexes, atrophy of the RPE in periphery.	1	1	LOVD
00379875	2016112801	PubMed: Wang 2018	-	M	?	China	Han Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00380315	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	2	LOVD
00380319	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	4	LOVD
00380376	-	PubMed: Bocquet-2013	-	-	yes	France	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380377	-	PubMed: Bocquet-2013	-	-	yes	France	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381613	-	PubMed: Eisenberger-2013	-	F	no	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381681	-	PubMed: Eisenberger-2013	-	F	?	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381890	40	PubMed: Birtel 2018	-	M	-	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382328	157	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382593	455	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383928	RP-0575	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384041	RP-1863	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384748	-	PubMed: González-del Pozo-2011	-	-	-	-	Spanish	-	-	-	-	retinal disease	-	1	1	LOVD
00385404	F15-I-1	PubMed: Chen 2020	-	F	-	Taiwan	-	-	-	-	-	retinal disease	49	2	1	LOVD
00389011	295	PubMed: Weisschuh 2020	Filing key number: 97, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389260	544	PubMed: Weisschuh 2020	Filing key number: 192, unclassified / mixed, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389261	545	PubMed: Weisschuh 2020	Filing key number: 192, unclassified / mixed, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389817	1101	PubMed: Weisschuh 2020	Filing key number: 740, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389857	1141	PubMed: Weisschuh 2020	Filing key number: 792, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00390370	G001296	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	2	1	LOVD
00390479	W000139	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00392778	II:1	PubMed: Donato-2021	-	M	yes	Egypt	-	-	-	-	-	retinal disease	-	1	1	LOVD
00392779	II:2	PubMed: Donato-2021	-	M	yes	Egypt	-	-	-	-	-	retinal disease	-	1	1	LOVD
00393592	-	PubMed: Liu-2020	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00394330	RP12	PubMed: Thorsteinsson 2021	-	?	-	Iceland	-	-	-	-	-	retinal disease	Early-onset RP, ERG consistent with RP	2	1	LOVD
00394331	RP13	PubMed: Thorsteinsson 2021	-	?	-	Iceland	-	-	-	-	-	retinal disease	Early-onset RP, ERG consistent with RP	2	1	LOVD
00394332	RP14	PubMed: Thorsteinsson 2021	-	?	-	Iceland	-	-	-	-	-	retinal disease	RP,	2	1	LOVD
00394333	RP15	PubMed: Thorsteinsson 2021	-	?	-	Iceland	-	-	-	-	-	retinal disease	Early-onset RP, ERG consistent with RP	1	1	LOVD
00394625	-	PubMed: Colombo-2020	-	F	no	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00394626	-	PubMed: Colombo-2020	-	F	yes	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395779	F109	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	2	1	LOVD
00395864	F276	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395894	F200	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00399219	-	PubMed: Burstedt 1999	Family 013	F	yes	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00399220	-	PubMed: Burstedt 1999	Family 013	F	yes	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00399221	-	PubMed: Burstedt 1999	Family 013	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00399222	-	PubMed: Burstedt 1999	Family 013	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00399223	-	PubMed: Burstedt 1999	Family 013	F	yes	-	-	-	-	-	-	retinal disease	-	1	1	LOVD

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Global Variome shared LOVD

RLBP1 (retinaldehyde binding protein 1)