All individuals with variants in gene RDH12

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.

605 entries on 7 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7		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
00001789	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	2	1	Feng Wang
00001790	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	2	1	Feng Wang
00001813	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	2	1	Feng Wang
00016606	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00016613	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00033165	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00033345	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	COD	-	2	1	Leen Abu Safieh
00033590	FamA	PubMed: Yücelyilmaz 2014	2-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents	F;M	yes	Turkey	Turkish	-	-	-	-	LCA	-	1	5	Didem Yücel Yılmaz
00033603	-	PubMed: Neveling 2013	-	-	-	-	-	-	-	-	-	?	retina dystrophy with comorbidithy	2	1	Marcel Nelen
00033687	-	-	-	F	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033703	-	-	-	F	no	India	India, north	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00052407	-	-	2-generation family, 2 affecteds, unaffected heterozygous carrier parents	M	yes	India	-	-	-	-	-	LCA	congenital, Age/Diagnosis 1y	1	1	Srilekha Sundar
00095956	61065	PubMed: Li 2017	-	F	yes	Pakistan	Pakistani	-	-	-	-	RD	Progressive RD	1	1	James Hejtmancik
00155529	-	Sharon, submitted	-	F	yes	Israel	Arab-Muslim	-	-	-	-	LCA	-	1	8	Dror Sharon
00155530	MOL0966	PubMed: Sharon 2019	family	M	no	Israel	Jewish	-	-	-	-	LCA	-	2	1	Dror Sharon
00155531	MOL0279	PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019	family	F	no	Israel	Turkey;Jewish	-	-	-	-	retinal disease	-	1	2	Dror Sharon
00155532	MOL0851	PubMed: Sharon 2019	family	F	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	3	Dror Sharon
00155533	-	Sharon, submitted	-	F	yes	Israel	Arab Christian	-	-	-	-	LCA	-	1	1	Dror Sharon
00155534	MOL0098	PubMed: Sharon 2015, PubMed: Sharon 2019	-	F	yes	Israel	Arab-Muslim	-	-	-	-	LCA	-	1	4	Dror Sharon
00155535	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	1	Dror Sharon
00155536	MOL0105	PubMed: Sharon 2015, PubMed: Sharon 2019	family	F	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	1	Dror Sharon
00207599	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	3	Marta de Castro-Miró
00207683	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Marta de Castro-Miró
00207686	-	-	-	M	-	-	-	-	-	-	-	LCA	-	1	1	Marta de Castro-Miró
00207688	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	2	Marta de Castro-Miró
00207689	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	Marta de Castro-Miró
00207700	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	Marta de Castro-Miró
00208837	RPCR-XX-1	-	1 generation- 1 affected (F)- parents unknown carriers status because not sequenced	F	no	Costa Rica	-	-	-	-	none	retinal disease	20/60 OD, 20/70 OS, nyctalopia, no nystagmus, bony spicules, flat ERG	1	1	Bailey Glen
00233243	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233244	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233245	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233246	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233247	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	215	Yoshito Koyanagi
00233248	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233249	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233776	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	15	Yoshito Koyanagi
00291095	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00308409	CIC05394	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308410	CIC07241	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308411	CIC07447	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00308539	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308622	-	PubMed: Holtan 2020	1 homozygous patient	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309332	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309333	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309334	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309335	MOL0589	PubMed: Sharon 2019	family	-	-	Israel	Morocco;Jewish	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309336	-	PubMed: Sharon 2019	family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309337	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309339	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309340	-	PubMed: Sharon 2019	3 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	3	Global Variome, with Curator vacancy
00309341	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309342	-	PubMed: Sharon 2019	5 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	5	Global Variome, with Curator vacancy
00324137	172672	-	-	M	-	-	-	-	-	-	-	LCA13;RP53	Rod-cone dystrophy, Retinal dystrophy	1	1	Andreas Laner
00325418	872	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	2	1	Johan den Dunnen
00325446	2884	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00325463	3343	PubMed: Zenteno 2020	single patient	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00325497	3647	PubMed: Zenteno 2020	single patient	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	2	1	Johan den Dunnen
00325504	3777	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00328158	G006018	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328263	G009840	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328494	15007408	PubMed: Taylor 2017	no family history retinal disease	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	retinal dystrophy (HP:0000556)	1	1	LOVD
00328495	14003957	PubMed: Taylor 2017	no family history retinal disease	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	retinal dystrophy (HP:0000556)	2	1	LOVD
00332264	Fam7PatFBP_8	PubMed: Porto 2017	proband	-	-	Brazil	-	-	-	-	-	retinal disease	-	2	1	LOVD
00332358	Fam1425	PubMed: Thompson 2017	-	-	-	Australia	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333956	418	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	2	LOVD
00333957	419	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	1	1	LOVD
00333958	420	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	1	LOVD
00333959	421	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	2	LOVD
00333960	422	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	1	LOVD
00333961	423	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	1	1	LOVD
00334429	RP-62	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334448	RP-050	PubMed: Huang 2017	patient	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334449	RP-060	PubMed: Huang 2017	patient	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335148	838	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	2y-diagnosis visual impairment	2	1	LOVD
00335281	Pat95	PubMed: Bravo-Gil 2017	patient	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	2	1	Nereida Bravo Gil
00335382	RP004	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335393	RP071	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00335748	P005	PubMed: Zolnikova 2017	-	-	-	Russia	Russia	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358791	BLM012	PubMed: Zhang 2016	family	F	-	United States	Hispanic	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358923	Fam35	PubMed: Wang 2016	family, 1 affected, unaffected heterozygous carrier parents/relatives	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358937	Fam01	PubMed: Sundaramurthy 2016	4-generation family, 4 affected (F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	India	-	-	-	-	-	retinal disease	see paper; ...	1	2	Johan den Dunnen
00358978	Case71868	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00359055	12012655	PubMed: Ellingford 2016	familial segregation analysis requested	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00359089	13005789	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00359094	13005791	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00359132	12013881	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359334	32458	PubMed: Khan 2017	see paper	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00359382	277	PubMed: Bravo-Gil 2016	see paper	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00362148	QT1199	In press, PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00362173	RP-2114	PubMed: Perez-Carro 2016	-	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00363439	3WP+3.68	PubMed: Ge 2015	3-generation family, affected grandfather/granddaughter (F, M)	F;M	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00363446	3JY+V.17	PubMed: Ge 2015	family	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363447	57R+R.78	PubMed: Ge 2015	family	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363466	34U+F.88	PubMed: Ge 2015	simplex case	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363519	9200033/I-39340	PubMed: Beheshtian 2015	4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Iran	-	-	-	-	-	retinal disease	see paper; ...	1	3	LOVD
00363612	10DG0245	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363637	10DG1939	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	2	1	LOVD
00363673	11DG2422	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363692	12DG0773	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363734	13DG0835	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD

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Global Variome shared LOVD

RDH12 (retinol dehydrogenase 12 (all-trans/9-cis/1...))