All individuals with variants in gene PRPF31

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.

830 entries on 9 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9		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
00001784	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00001799	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00001803	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00033147	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033168	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00105048	E4	PubMed: de Castro-Miró 2016	6-generation family, 11 affecteds (7F, 4M), unaffected heterozygous carrier parents; 2 different variants segregating in family	F;M	-	-	-	-	-	-	-	retinal disease	-	2	11	Marta de Castro-Miró
00207696	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	Marta de Castro-Miró
00233509	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00233510	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233511	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233512	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233513	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233514	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233515	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233516	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233517	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233518	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	6	Yoshito Koyanagi
00233519	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233520	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00269937	Fam1P1	PubMed: Karali 2019, Journal: Karali 2019	family, 2 affected	-	-	Italy	-	-	-	-	-	retinal disease	Pericentral RP, photophobia, pericentral field loss	1	2	Sandro Banfi
00269942	Fam12P15	PubMed: Karali 2019, Journal: Karali 2019	family, 2 affected	-	-	Italy	-	-	-	-	-	retinal disease	Pericentral RP, incidental diagnosis, pericentral field loss	1	2	Sandro Banfi
00292195	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	23	Mohammed Faruq
00300602	Fam12P16	PubMed: Karali 2019, Journal: Karali 2019	-	-	-	Italy	-	-	-	-	-	retinal disease	RP, night blindness, constricted with peripheral scotoma	1	1	Sandro Banfi
00300603	Fam1P2	PubMed: Karali 2019, Journal: Karali 2019	-	-	-	Italy	-	-	-	-	-	retinal disease	RP, photophobia, constricted with peripheral scotoma	1	1	Sandro Banfi
00307697	-	-	-	F	-	-	-	-	-	-	-	?	Abnormality of the eye (HP:0000478); Rod-cone dystrophy (HP:0000510)	1	1	Andreas Laner
00309308	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309309	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309310	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309311	-	PubMed: Sharon 2019	5 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	5	Global Variome, with Curator vacancy
00309667	-	-	-	F	-	-	-	-	-	-	-	?	Rod-cone dystrophy (HP:0000510)	1	1	IMGAG
00320031	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 79y	1	1	Julia Lopez
00320032	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 70y	1	1	Julia Lopez
00320033	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 43y	1	1	Julia Lopez
00320034	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 38y	1	1	Julia Lopez
00320035	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 66y	1	1	Julia Lopez
00320036	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 41y	1	1	Julia Lopez
00320037	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 40y	1	1	Julia Lopez
00320038	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 24y	1	1	Julia Lopez
00320039	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 70y	1	1	Julia Lopez
00320040	-	PubMed: Martínez-Gimeno 2003	-	-	-	-	Spanish	-	-	-	-	retinal disease	age: 30y	1	1	Julia Lopez
00320176	-	-	-	M	-	-	-	-	-	-	-	?	Rod-cone dystrophy (HP:0000510)	1	1	IMGAG
00325483	3542	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00325492	3596	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00325524	4013	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00327961	B240261	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328091	G005168	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	1	1	LOVD
00328125	G005261	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328148	G005995	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00331285	Pat39	PubMed: Maeda 2018	family	F	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332206	JB33	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332536	Pat18	PubMed: Comander 2017	proband, 3 affected children	M	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00333356	Pat16	PubMed: Costa 2017	-	M	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333382	RD1–07	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333507	51	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333508	52	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333509	53	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333510	54	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333511	55	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1a	1	1	LOVD
00333528	197	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1ai	1	1	LOVD
00333565	240	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aii	1	1	LOVD
00333566	241	PubMed: Stone 2017	family, 2 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aii	1	2	LOVD
00333567	242	PubMed: Stone 2017	family, 2 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aii	1	2	LOVD
00333568	243	PubMed: Stone 2017	family, 4 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aii	1	4	LOVD
00333569	244	PubMed: Stone 2017	family, 5 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aii	1	5	LOVD
00333589	298	PubMed: Stone 2017	family, 2 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiv	1	2	LOVD
00333590	299	PubMed: Stone 2017	family, 4 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiv	1	4	LOVD
00333591	300	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiv	1	2	LOVD
00333592	301	PubMed: Stone 2017	family, 4 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA1aiv	1	4	LOVD
00334424	RP-035	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334425	RP-098	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334426	RP-126	PubMed: Huang 2017	family	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00334575	216	PubMed: Vincent 2017	family, 2 affected, patient and mother?	F	-	Samoa	-	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00335145	430	PubMed: Haer-Wigman 2017	family	-	no	Netherlands	-	-	-	-	-	?	16y-diagnosis visual impairment	1	1	LOVD
00335146	6862	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	4y-diagnosis visual impairment	1	1	LOVD
00335308	Pat102	PubMed: Bravo-Gil 2017	patient	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	Nereida Bravo Gil
00335314	Pat76	PubMed: Bravo-Gil 2017	patient	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	Nereida Bravo Gil
00335315	Pat97	PubMed: Bravo-Gil 2017	patient	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	Nereida Bravo Gil
00335396	RP009	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335406	RP078	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335441	RP094	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335572	FAM_030	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335573	FAM_031	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335574	FAM_032	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335575	FAM_033	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335576	FAM_034	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335577	FAM_035	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335578	FAM_036	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335579	FAM_037	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335580	FAM_038	PubMed: Van Cauwenbergh 2017	-	-	-	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335653	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335654	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	3	Julia Lopez
00335655	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335656	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	2	Julia Lopez
00335657	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335658	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335659	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	5	Julia Lopez
00335660	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335661	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00335662	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	4	Julia Lopez
00335663	-	PubMed: Sullivan 2006	1 family	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez

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Global Variome shared LOVD

PRPF31 (PRP31 pre-mRNA processing factor 31 homolog...)