All individuals with variants in gene RPGRIP1

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.

478 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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
00000223	UNC64	PubMed: Antony 2013	-	-	-	United States	-	-	-	-	-	CILD14	-	1	1	Hannah Mitchison
00016610	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00033156	-	-	-	F	-	-	-	-	-	-	-	retinal disease	obesity, familial hypercholesterolemia, recurrent cystitis (5y), heart murmur	1	1	Kornelia Neveling
00033352	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	LCA	-	2	1	Leen Abu Safieh
00033353	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	?	Retinitis punctata albescens	2	1	Leen Abu Safieh
00033354	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	RD	-	2	1	Leen Abu Safieh
00033355	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	?	Rod Dystrophy	2	1	Leen Abu Safieh
00033356	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	LCA	-	2	1	Leen Abu Safieh
00033357	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	LCA	-	2	1	Leen Abu Safieh
00033361	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	CORD	-	2	1	Leen Abu Safieh
00033362	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	LCA	gliosis	2	1	Leen Abu Safieh
00033363	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	LCA	-	2	1	Leen Abu Safieh
00033588	-	-	family with 2 affecteds	-	yes	India	-	-	-	-	-	retinal disease	-	2	2	Chitra Kannabiran
00033605	Pat1bl	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	CORD	Cone-rod dystrophy with nystagmus	2	1	Marcel Nelen
00033606	-	PubMed: Neveling 2013	confirmed in affected sib	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Marcel Nelen
00033607	Pat8bl	PubMed: Neveling 2013	confirmed in affected sib	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Marcel Nelen
00033722	-	-	-	M	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033723	-	-	-	M	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033724	-	-	-	F	yes	India	India, north	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033725	-	-	-	M	no	India	India, south	-	-	-	-	LCA	-	2	1	Soumittra Nagasamy
00038056	-	PubMed: Vallespin 2007	-	M	?	Spain	Spanish	-	-	-	-	LCA	?	1	2	Frans Cremers
00038058	-	PubMed: Vallespin 2007	-	M	?	Spain	Spanish	-	-	-	-	LCA	?	1	2	Frans Cremers
00038059	-	PubMed: Vallespin 2007	-	M	?	Spain	Spanish	-	-	-	-	LCA	?	1	2	Frans Cremers
00038076	-	PubMed: Vallespin 2007	-	?	?	Spain	Spanish	-	-	-	-	retinal disease	?	1	1	Frans Cremers
00100118	61312	PubMed: Li 2017	-	F	yes	Pakistan	Pakistani	-	-	-	-	LCA	-	1	1	James Hejtmancik
00105038	-	PubMed: de Castro-Miró 2014	-	M	no	Spain	-	-	-	-	-	LCA	-	2	1	Marta de Castro-Miró
00155548	-	Sharon, submitted	-	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	LCA	-	1	2	Dror Sharon
00155549	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	LCA	-	1	3	Dror Sharon
00155550	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	1	Dror Sharon
00173892	31	PubMed: Wang 2014b	-	F	-	United States	-	-	-	-	-	CORD	-	1	1	Isabelle Audo
00240460	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00240461	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00269583	-	-	-	F	-	Korea	-	-	-	-	-	LCA	-	1	1	Jinu Han
00269584	-	-	-	M	-	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269585	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	1	1	Jinu Han
00269592	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00290971	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	209	Mohammed Faruq
00290972	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00290973	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290974	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	18	Mohammed Faruq
00304420	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00304421	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00308399	CIC06321	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308560	-	PubMed: Holtan 2020	2 patients with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00308624	-	PubMed: Holtan 2020	1 homozygous patient	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309408	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309409	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309410	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309411	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309412	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00325456	3275	PubMed: Zenteno 2020	single patient	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00325458	3292	PubMed: Zenteno 2020	single patient	-	-	Mexico	-	-	-	-	-	retinal disease	syndromic retinal dystrophy	1	1	Johan den Dunnen
00325473	3483	PubMed: Zenteno 2020	-	-	-	Mexico	-	-	-	-	-	retinal disease	Leber congenital amaurosis	1	1	Johan den Dunnen
00325490	3592	PubMed: Zenteno 2020	-	-	-	Mexico	-	-	-	-	-	retinal disease	Leber congenital amaurosis	1	1	Johan den Dunnen
00327953	B240213	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	2	1	LOVD
00328173	G007341	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328328	W000332	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328336	W000370	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328496	15004859	PubMed: Taylor 2017	no family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	retinal dystrophy (HP:0000556)	2	1	LOVD
00332200	JB307	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332210	JB284	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332216	JB285	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	2	1	LOVD
00332217	JB124	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332353	Fam479	PubMed: Thompson 2017	family, 2 affected	-	-	Australia	-	-	-	-	-	retinal disease	see paper; ...	3	2	LOVD
00332354	Fam1642	PubMed: Thompson 2017	family, 2 affected	-	-	Australia	-	-	-	-	-	retinal disease	see paper; ...	2	2	LOVD
00332388	Pat9	PubMed: Rim 2017	-	M	-	Korea	-	-	-	-	-	retinal disease	horizontal jerk nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished	2	1	LOVD
00332389	Pat10	PubMed: Rim 2017	-	M	-	Korea	-	-	-	-	-	retinal disease	horizontal jerk nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished	1	1	LOVD
00332408	Pat8	PubMed: Han 2017	-	-	-	Korea	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00332409	Pat9	PubMed: Han 2017	-	-	-	Korea	-	-	-	-	-	retinal disease	see paper; ...	2	1	Johan den Dunnen
00332471	Pat41	PubMed: Di Iorio 2017	-	-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333357	Pat6	PubMed: Costa 2017	-	M	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333366	Pat11	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333427	RD15–01	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333430	RD13–08	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333457	RKK_209	PubMed: Soens 2017	possible duplicate	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333466	FBP_353	PubMed: Soens 2017	possible duplicate	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333478	DGB_032	PubMed: Soens 2017	possible duplicate	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333964	426	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	1	1	LOVD
00333965	427	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	1	LOVD
00335168	2533	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	0y-diagnosis visual impairment	2	1	LOVD
00335239	Fi15/12	PubMed: Riera 2017	patient	-	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00335342	Pat105	PubMed: Bravo-Gil 2017	-	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	Nereida Bravo Gil
00335498	IRD002	PubMed: Bernardis 2016		-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00335593	-	PubMed: Booij 2005	unknown variant 2nd chromosome; not in 60 controls	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335594	-	PubMed: Booij 2005	unknown variant 2nd chromosome; not in 60 controls	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335614	-	PubMed: Dryja 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335615	-	PubMed: Dryja 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335616	-	PubMed: Dryja 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335617	-	PubMed: Dryja 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335618	-	PubMed: Dryja 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335619	-	Miller 1988	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335620	-	PubMed: Booij 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335621	-	PubMed: Booij 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335622	-	PubMed: Booij 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00358913	Fam25	PubMed: Wang 2016	family, 1 affected, unaffected heterozygous carrier parents	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358914	Fam26	PubMed: Wang 2016	family, 1 affected, unaffected heterozygous carrier parents/relatives	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358915	Fam27	PubMed: Wang 2016	family, 1 affected, unaffected heterozygous carrier parents/relatives	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358916	Fam28	PubMed: Wang 2016	family, 1 affected, unaffected heterozygous mother	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358930	Case27536	PubMed: Tiwari 2016	-	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358951	Case71927	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD

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Global Variome shared LOVD

RPGRIP1 (retinitis pigmentosa GTPase regulator inte...)