All individuals with variants in gene CRX

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.

265 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00001801	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00033134	-	-	-	M	-	-	-	-	-	-	-	retinal disease	retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability	1	1	Kornelia Neveling
00033155	-	-	-	F	-	-	-	-	-	-	-	retinal disease	subtle hearing loss, fibromyalgia	1	1	Kornelia Neveling
00105015	10NCE1	PubMed: de Castro-Miró 2016	-	M	no	Spain	-	-	-	-	-	retinal disease	-	1	1	Marta de Castro-Miró
00173866	RP207	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	-	1	2	Isabelle Audo
00233500	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233501	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233502	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233503	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	8	Yoshito Koyanagi
00233504	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	14	Yoshito Koyanagi
00233505	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233506	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233507	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233508	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00269472	-	-	-	M	-	-	-	31y	-	-	-	LCA	-	2	1	Jinu Han
00269473	-	-	-	-	-	-	-	-	-	-	-	LCA	-	1	1	Jinu Han
00292162	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00292163	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	74	Mohammed Faruq
00308394	CIC04965	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308395	CIC03241	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308396	CIC3750	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308402	CIC07569	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308506	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309128	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00326683	-	PubMed: Ziviello 2005	-	-	-	Italy	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00326788	-	PubMed: Sohocki 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00326789	-	PubMed: Sohocki 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00326790	-	PubMed: Sohocki 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00326796	-	PubMed: Sohocki 2001	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00328139	G005521	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328168	G006303	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328280	W000147	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328405	690923	PubMed: Zhou 2018	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00331278	Pat32	PubMed: Maeda 2018	family	M	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332034	Pat172	PubMed: Birtel 2018	family	F	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; EOG reduced; scotopic ERG normalreduced; photopic ERG borderline	1	1	LOVD
00332035	Pat173	PubMed: Birtel 2018	patient	F	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; scotopic ERG normal; photopic ERG borderline	1	1	LOVD
00332036	Pat174	PubMed: Birtel 2018	patient	F	-	Germany	-	-	-	-	-	retinal disease	photophobia; scotopic ERG normalreduced; photopic ERG borderline	1	1	LOVD
00332037	Pat175	PubMed: Birtel 2018	family	F	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; scotopic ERG normalreduced; photopic ERG extinguished	1	1	LOVD
00332224	JB195	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332393	Pat1;Pat14;Pat14	PubMed: Han 2017, PubMed: Rim 2017	-	F	-	Korea	-	-	-	-	-	retinal disease	horizontal jerk nystagmus; fundus pigmentary changes; no oculodigital sign; ERG extinguished	1	1	LOVD
00333440	FAM3-5250	PubMed: Jones 2017	5-generation family, 11 affected (5F, 6M)	F	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	11	LOVD
00333442	FAM3-10396	PubMed: Jones 2017	relative	M	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333443	FAM3-10397	PubMed: Jones 2017	relative	F	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333444	FAM3-10398	PubMed: Jones 2017	relative	F	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333583	292	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiv	1	1	LOVD
00333625	380	PubMed: Stone 2017	family, 7 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1bii	1	7	LOVD
00333633	397	PubMed: Stone 2017	family, 4 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2a	1	4	LOVD
00334415	RP-046	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335110	5462	PubMed: Haer-Wigman 2017	patient	-	yes	Netherlands	-	-	-	-	-	?	2y-diagnosis visual impairment	2	1	LOVD
00335111	165	PubMed: Haer-Wigman 2017	patient	-	yes	Netherlands	-	-	-	-	-	?	18y-diagnosis visual impairment	2	1	LOVD
00335217	Fi15/04	PubMed: Riera 2017	family, several affected	-	-	Spain	-	-	-	-	-	retinal disease	-	1	2	LOVD
00335302	Pat33	PubMed: Bravo-Gil 2017	patient	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	Nereida Bravo Gil
00335401	RP041	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335407	RP087	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335489	IRD035	PubMed: Bernardis 2016		-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335636	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	5	Julia Lopez
00335637	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	15	Julia Lopez
00358918	Fam30	PubMed: Wang 2016	-	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00359035	13010981	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359077	12013231	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359230	13012308	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359236	13009064	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359385	522	PubMed: Bravo-Gil 2016	see paper	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362063	QT139	PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00362064	QT470	PubMed: Huang 2012, PubMed: Huang 2016	4-generation family, 10 affected (7F, 3M)	F;M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	10	Johan den Dunnen
00362065	QT1272	PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00362155	QT70	PubMed: Huang 2012	2-generation family, 1 affected	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00362156	QT22	PubMed: Huang 2012	2-generation family, 1 affected	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00362163	K6343	PubMed: Oishi 2016	3-generation family, 1 affected	M	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362168	K6345	PubMed: Oishi 2016	-	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362897	RCD 70	PubMed: Weisschuh 2016	family	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362903	ZD367	PubMed: Weisschuh 2016	family	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363382	HM691	PubMed: Sun 2015	proband	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00363456	3XM+J.87	PubMed: Ge 2015	simplex case	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363581	09DG00180	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363594	09DG00976	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363674	11DG2472	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363690	12DG0648	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00372406	148	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372444	1679336	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372637	RP353	PubMed: Xu 2014	family	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372644	RP327	PubMed: Xu 2014	family	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373356	-	PubMed: Van Huet 2015	-	-	-	Netherlands	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373465	RP1688	PubMed: Fernandez-San Jose 2015	family, 2 affected	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00373866	Rp97	PubMed: Zhao 2015	family	-	-	Northern Ireland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00374960	F14-1	PubMed: Huang 2015	-	F	-	China	-	-	-	-	-	retinal disease	best corrected visual acuity 0.1/0.1	1	1	LOVD
00374984	Pat25	PubMed: Duncker 2015	-	M	-	United States	Hispanic	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00374985	Pat26	PubMed: Duncker 2015	-	F	-	United States	Hispanic	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00375273	K6116	PubMed: Oishi 2014	simplex case	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375274	K6419	PubMed: Oishi 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375331	K6218	PubMed: Oishi 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375510	CRDPat5, dominant	PubMed: Alapati 2014	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376180	-	PubMed: Jin 2008	-	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376182	-	PubMed: Jin 2008	-	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376188	-	PubMed: Jin 2008	-	M	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376190	-	PubMed: Jin 2008	-	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00376299	-	PubMed: Avela 2019	-	-	-	Finland	Finnish	-	-	-	-	retinal disease	-	1	1	LOVD
00376300	-	PubMed: Avela 2019	-	-	-	Finland	Finnish	-	-	-	-	retinal disease	-	1	1	LOVD
00376301	-	PubMed: Avela 2019	-	-	-	Finland	Finnish	-	-	-	-	retinal disease	-	1	1	LOVD
00376302	-	PubMed: Avela 2019	-	-	-	Finland	Finnish	-	-	-	-	retinal disease	-	1	1	LOVD

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Global Variome shared LOVD

CRX (cone-rod homeobox)