All individuals with variants in gene KCNV2

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.

328 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00050559	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected mother/child	F	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay	1	2	Johan den Dunnen
00143915	-	PubMed: Katagiri 2014	index patient	F	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00155484	-	Sharon, submitted	-	M	yes	Israel	Yemenite;Jewish	-	-	-	-	RCD3B	-	1	2	Dror Sharon
00155485	-	Sharon, submitted	-	M	no	Israel	Beduin	-	-	-	-	RCD3B	-	1	2	Dror Sharon
00155486	-	Sharon, submitted	-	M	no	Israel	Jewish	-	-	-	-	RCD3B	-	2	3	Dror Sharon
00155487	-	Sharon, submitted	-	M	yes	Israel	Yemenite;Jewish	-	-	-	-	RCD3B	-	1	1	Dror Sharon
00155488	-	Sharon, submitted	-	F	no	Israel	Jewish	-	-	-	-	RCD3B	-	2	2	Dror Sharon
00155489	-	Sharon, submitted	-	F	yes	Israel	Jewish-Oriental	-	-	-	-	RCD3B	-	1	1	Dror Sharon
00294838	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294839	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	16	Mohammed Faruq
00294840	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	63	Mohammed Faruq
00305247	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00308612	-	PubMed: Holtan 2020	1 homozygous patient	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308724	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00309203	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309204	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309205	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309206	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309207	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309208	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309209	-	PubMed: Sharon 2019	3 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	3	Global Variome, with Curator vacancy
00309210	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309840	patient	PubMed: Sun 2018	-	M	-	China	-	-	-	-	-	retinal disease	see paper; ..., nystagmus, strabismus, Leber congenital amaurosis, macular pseudocoloboma	1	1	Johan den Dunnen
00325471	3470	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	syndromic retinal dystrophy	1	1	Johan den Dunnen
00328104	G005209	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328297	W000170	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328459	15020633	PubMed: Taylor 2017	no family history retinal disease	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	cone/cone-rod dystrophy (HP:0000548)	1	1	LOVD
00333989	462	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2d	1	1	LOVD
00333990	463	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2d	1	1	LOVD
00334457	RP-135	PubMed: Huang 2017	patient	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00359238	12013892	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00362147	QT1250	PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00362167	K6496	PubMed: Oishi 2016	4-generation family, 1 affected	M	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00363596	09DG01036	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363613	10DG0420	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363636	10DG1759	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363669	11DG2157	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363729	13DG0262	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363730	13DG0401	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00372511	134	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00374961	W72-1	PubMed: Huang 2015	-	M	yes	China	-	-	-	-	-	retinal disease	best corrected visual acuity fingers count/fingers count	1	1	LOVD
00375422	RP#015	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375434	RP#029	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377805	-	PubMed: Littink 2010	-	-	yes	Netherlands	Moroccan	-	-	-	-	retinal disease	cone dystrophy with supernormal rod responses (RCD3)	1	1	LOVD
00377990	-	PubMed: Thiadens_2012	novel	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377991	-	PubMed: Thiadens_2012	novel	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377993	-	PubMed: Thiadens_2012	novel	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377994	-	PubMed: Thiadens_2012	novel	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377995	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377996	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377997	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377998	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377999	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00378000	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00378001	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00378002	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00378003	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00378004	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380289	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	8	LOVD
00380290	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	2	LOVD
00380291	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	3	LOVD
00380292	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	3	LOVD
00380293	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	3	LOVD
00380294	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	2	LOVD
00380295	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	3	LOVD
00381576	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381577	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00381578	-	PubMed: robson-2010	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00381579	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381580	-	PubMed: robson-2010	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381581	-	PubMed: robson-2010	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381582	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381583	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381584	-	PubMed: robson-2010	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381585	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381586	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381587	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381588	-	PubMed: robson-2010	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00381589	-	PubMed: robson-2010	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381590	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00381591	-	PubMed: robson-2010	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381592	-	PubMed: robson-2010	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00381593	-	PubMed: robson-2010	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382558	420	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382559	421	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382803	-	PubMed: Song-2011	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383435	-	PubMed: Khan 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383436	-	PubMed: Khan 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383437	-	PubMed: Khan 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383438	-	PubMed: Khan 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383439	-	PubMed: Khan 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383440	-	PubMed: Khan 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383441	-	PubMed: Khan 2019	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383442	-	PubMed: Khan 2019	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384142	RP-2621	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384430	14489	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00385113	III:10	PubMed: Schauren 2020	Family #3	M	-	Brazil	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386171	RPN-283	PubMed: Rodriguez-Munoz 2020	family fRPN-126, proband	M	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386187	RPN-297	PubMed: Rodriguez-Munoz 2020	family fRPN-140, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386193	RPN-309	PubMed: Rodriguez-Munoz 2020	family fRPN-147, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD

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Global Variome shared LOVD

KCNV2 (potassium channel, subfamily V, member 2)