All individuals with variants in gene RP2

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.

409 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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	3	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	2	1	Yu Sun
00016608	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00032853	-	-	for details contact Lucy Raymond (flr24 @ cam.ac.uk)	M	-	-	-	-	-	-	-	MRX;IDX	-	1	6	Johan den Dunnen
00033087	-	-	-	F	-	-	-	-	-	-	-	retinal disease	clumped pigmentary retinal degeneration	1	1	Kornelia Neveling
00033091	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033094	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033101	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033105	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033124	-	-	-	F	-	-	-	-	-	-	-	retinal disease	dystrophy, macular, juvenile	1	1	Kornelia Neveling
00033162	-	-	-	M	-	-	-	-	-	-	-	retinal disease	retinal degeneration, severe, early onset (EOSRD)	1	1	Kornelia Neveling
00105036	-	PubMed: de Castro-Miró 2014	-	F	no	Spain	-	-	-	-	-	retinal disease	-	1	1	Marta de Castro-Miró
00105037	-	PubMed: de Castro-Miró 2014	-	M	no	Spain	-	-	-	-	-	retinal disease	-	1	1	Marta de Castro-Miró
00164010	09697692-Pat10004	PubMed: Schwahn 1998	-	M	-	-	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164011	09697692-Pat2553	PubMed: Schwahn 1998	-	M	-	-	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164012	09697692-Pat2613	PubMed: Schwahn 1998	-	M	-	-	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164013	09697692-Pat1168	PubMed: Schwahn 1998	-	M	-	-	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164014	09697692-Pat3102	PubMed: Schwahn 1998	-	M	-	-	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164015	09697692-Pat2448	PubMed: Schwahn 1998	-	M	-	-	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164016	09697692-Pat2967	PubMed: Schwahn 1998	-	M	-	-	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164017	10053026-PatA2240	PubMed: Mears 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164018	10053026-PatA1137	PubMed: Mears 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	2	1	Johan den Dunnen
00164019	10053026-PatA1135	PubMed: Mears 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164020	10053026-PatA512	PubMed: Mears 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164021	10053026-PatA514	PubMed: Mears 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164022	10090907-Fam72	PubMed: Hardcastle 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164023	10090907-Fam15	PubMed: Hardcastle 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164024	10090907-Fam71	PubMed: Hardcastle 1999	3-generation family, 5 affecteds (5M), 2 carrier females	M	-	United States	-	-	-	-	-	XLRP	-	1	5	Johan den Dunnen
00164025	10090907-PatRP227	PubMed: Hardcastle 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164026	10090907-PatNRP	PubMed: Hardcastle 1999	-	M	-	United States	-	-	-	-	-	XLRP	-	1	1	Johan den Dunnen
00164027	10090907-PatRP3877	PubMed: Hardcastle 1999	3-generation family, 2 affecteds (2M), 2 carrier females	M	-	United States	-	-	-	-	-	XLRP	-	1	2	Johan den Dunnen
00229651	-	-	-	M	-	-	-	-	-	-	-	?	HP:0000510 (Rod-cone dystrophy)	1	1	IMGAG
00233577	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233578	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233579	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233580	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233581	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233582	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233583	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233584	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233585	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00233808	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233809	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233810	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00240452	-	-	-	M	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00240453	-	-	-	M	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00240454	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00308553	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308554	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308657	-	PubMed: Kim 2019	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309375	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309376	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309377	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309378	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309379	MOL0574	PubMed: Kimchi 2018, PubMed: Sharon 2019	1 IRD family	M	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309672	RP087	PubMed: Jinda 2014	2-generation family, 3 affected (3M)	M	-	Thailand	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00309731	-	PubMed: Kimchi 2018	-	-	-	Israel	Jewish-Ashkenazi	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00325437	2637	PubMed: Zenteno 2020	family	M	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00325465	3354	PubMed: Zenteno 2020	family	M	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00325481	3533	PubMed: Zenteno 2020	family	M	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00327042	FamRP200309	PubMed: Rosenberg 1999	6-generation family, 6 affected males, 4 affected/7 non-affected carrier females	F;M	-	Denmark	-	-	-	-	-	retinal disease	see paper; ...	1	10	Johan den Dunnen
00327043	FamRP200307	PubMed: Rosenberg 1999	5-generation family, 5 affected males, 3 affected/2 non-affected carrier females	F;M	-	Denmark	-	-	-	-	-	retinal disease	see paper; ...	1	8	Johan den Dunnen
00327044	FamRP200322	PubMed: Rosenberg 1999	4-generation family, 4 affected males, 3 non-affected carrier females	M	-	Denmark	-	-	-	-	-	retinal disease	see paper; ...	1	4	Johan den Dunnen
00327052	RP-001	PubMed: Parmeggiani 2017	-	-	-	Italy	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00327402	RP04/1759	PubMed: Bader 2003	-	M	-	Germany	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00327403	RP28/1125	PubMed: Bader 2003	-	M	-	Germany	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00327404	XRP32/8801	PubMed: Bader 2003	-	M	-	Germany	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00327405	-	PubMed: Breuer 2002	patients	M	-	United States	-	-	-	-	-	Healthy/Control	-	1	1	LOVD
00327406	1694	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327407	471	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327408	790	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327409	1358	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327410	115	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327411	1645	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327412	1699	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327413	1324	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327414	1737	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327415	1063	PubMed: Breuer 2002	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327471	FamF842Pat004-233	PubMed: Sharon 2000, PubMed: Sharon 2003	3-generation family, 6 affected males, 4 unaffected carrier females	M	-	(United States)	-	-	-	-	-	retinal disease	-	1	6	LOVD
00327472	Fam2799Pat004-110	PubMed: Sharon 2000, PubMed: Sharon 2003	4-generation family, 5 affected males, 5 unaffected carrier females	M	-	(United States)	-	-	-	-	-	retinal disease	-	1	5	LOVD
00327473	FamD993Pat004-215	PubMed: Sharon 2000, PubMed: Sharon 2003	2-generation family, 2 affected brothers, unaffected carrier mother	M	-	(United States)	-	-	-	-	-	retinal disease	-	1	2	LOVD
00327474	004-149	PubMed: Sharon 2000, PubMed: Sharon 2003	-	M	-	(United States)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327475	Fam0844Pat004-176	PubMed: Sharon 2000, PubMed: Sharon 2003	4-generation family, 5 affected males, 6 unaffected carrier females	M	-	(United States)	-	-	-	-	-	retinal disease	-	1	5	LOVD
00327476	FamD202Pat004-229	PubMed: Sharon 2000, PubMed: Sharon 2003	4-generation family, 3 affected males, 4 unaffected carrier females	M	-	(United States)	-	-	-	-	-	retinal disease	-	1	3	LOVD
00327477	cases	PubMed: Sharon 2000, PubMed: Sharon 2003	-	M	-	(United States)	-	-	-	-	-	retinal disease	-	1	3	LOVD
00327478	controls	PubMed: Sharon 2000, PubMed: Sharon 2003	-	M	-	(United States)	-	-	-	-	-	Healthy/Control	-	1	3	LOVD
00327479	039-109	PubMed: Sharon 2003	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327480	121-237	PubMed: Sharon 2003	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327481	004-288	PubMed: Sharon 2003	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327482	121-211	PubMed: Sharon 2003	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327483	004-284	PubMed: Sharon 2003	-	M	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00327989	G001024	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328077	G004993	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328149	G005998	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328154	G006008	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328326	W000329	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328413	690347	PubMed: Zhou 2018	-	M	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328414	691008	PubMed: Zhou 2018	-	F	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328549	Fam641	PubMed: Andreasson 2003	3-generation family, 3 affected males, 3 unaffected carrier females	M	-	Sweden	-	-	-	-	-	retinal disease	see paper; ...	1	3	Johan den Dunnen
00331286	Pat40	PubMed: Maeda 2018	family	M	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD

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Global Variome shared LOVD

RP2 (retinitis pigmentosa 2 (X-linked recessive))