All individuals with variants in gene CNGA3

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.

965 entries on 10 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10		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
00000390	-	PubMed: Linnankivi 2006, PubMed: Polvi 2012	F8:II-1, patient 12 in Linnankivi et al. 2006	M	no	Finland	Finnish	>22y	-	-	-	CRMCC	-	1	1	Anne Polvi
00019837	-	PubMed: Gilissen 2014	-	?	?	-	-	-	-	-	-	ID	-	1	1	Marianne Vos (LOVD-team)
00034517	-	PubMed: Wang 2011, Journal: Wang 2011	4-generation family, 1 affected, unaffected heterozygous carrier parents/sibs	F	yes	Saudi Arabia	-	-	-	-	-	LCA	5m-early-onset nystagmus; sluggish pupils, no visual response; 10m-nonrecordable ERG	1	1	Johan den Dunnen
00034520	-	-	-	-	yes	Pakistan	Multan	-	-	-	-	CORD	cone-rod dystrophy	1	1	Zubair Ahmed
00100072	61086	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	RD	progressive	1	1	James Hejtmancik
00104998	75ORG1	PubMed: de Castro-Miró 2016	-	F	yes	Saudi Arabia	-	-	-	-	-	ACHM	-	1	1	Marta de Castro-Miró
00144158	-	PubMed: Katagiri 2014	index patient	M	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00155420	-	Sharon, submitted	-	F	yes	Israel	Druze	-	-	-	-	ACHM3	-	1	5	Dror Sharon
00155421	-	Sharon, submitted	-	F	yes	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	1	2	Dror Sharon
00155422	-	Sharon, submitted	-	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	ACHM3	-	2	1	Dror Sharon
00155423	-	Sharon, submitted	-	M	no	Israel	Jewish	-	-	-	-	ACHM3	-	2	1	Dror Sharon
00155424	-	Sharon, submitted	-	M	no	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	2	1	Dror Sharon
00155425	-	Sharon, submitted	-	M	no	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	2	2	Dror Sharon
00155426	-	Sharon, submitted	-	M	no	Israel	Yemenite;Jewish	-	-	-	-	ACHM3	-	1	1	Dror Sharon
00155427	-	Sharon, submitted	-	F	no	Israel	Jewish	-	-	-	-	ACHM3	-	2	3	Dror Sharon
00155428	-	Sharon, submitted	-	M	no	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	2	2	Dror Sharon
00155429	-	Sharon, submitted	-	F	no	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	2	4	Dror Sharon
00155430	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	1	1	Dror Sharon
00155431	-	Sharon, submitted	-	M	no	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	2	1	Dror Sharon
00155432	-	Sharon, submitted	-	F	no	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	2	1	Dror Sharon
00155433	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	ACHM3	-	1	3	Dror Sharon
00155434	-	Sharon, submitted	-	M	yes	Israel	Beduin	-	-	-	-	ACHM3	-	1	2	Dror Sharon
00155435	-	Sharon, submitted	-	M	yes	Israel	Jewish-Oriental	-	-	-	-	ACHM3	-	2	2	Dror Sharon
00155436	-	Sharon, submitted	-	F	yes	Israel	Jewish-Oriental	-	-	-	-	ACHM3	-	1	2	Dror Sharon
00155437	-	Sharon, submitted	-	M	no	Israel	Jewish-Oriental	-	-	-	-	ACHM3	-	2	1	Dror Sharon
00155438	-	Sharon, submitted	-	F	no	Israel	Jewish-Ashkenazi	-	-	-	-	ACHM3	-	1	2	Dror Sharon
00234409	-	-	-	M	-	-	-	-	-	-	-	?	HP:0000548 (Cone/cone-rod dystrophy)	2	1	IMGAG
00260781	-	-	-	F	-	-	-	-	-	-	-	?	Achromatopsia (HP:0011516); Rod-cone dystrophy (HP:0000510)	2	1	IMGAG
00292856	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292857	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	64	Mohammed Faruq
00292858	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292859	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292860	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00292861	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295398	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00304840	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00306770	-	-	-	F	-	-	-	-	-	-	-	?	Achromatopsia (HP:0011516); Primary ovarian failure (HP:0001587); Abnormality of the eye (HP:0000478); Abnormality of vision (HP:0000504); Visual impairment (HP:0000505); Photophobia (HP:0000613)	1	1	Andreas Laner
00308495	-	PubMed: Holtan 2020	2 patients with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00308496	-	PubMed: Holtan 2020	2 patients with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00308497	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308498	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308607	-	PubMed: Holtan 2020	1 homozygous patient	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308608	-	PubMed: Holtan 2020	1 homozygous patient	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308664	-	PubMed: Kim 2019	-	-	-	Korea	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00309064	-	PubMed: Sharon 2019	3 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	3	Global Variome, with Curator vacancy
00309065	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309066	-	PubMed: Sharon 2019	5 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	5	Global Variome, with Curator vacancy
00309067	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309068	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00309069	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309070	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309071	-	PubMed: Sharon 2019	5 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	5	Global Variome, with Curator vacancy
00309072	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309073	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309074	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309075	-	PubMed: Sharon 2019	10 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	10	Global Variome, with Curator vacancy
00309076	-	PubMed: Sharon 2019	4 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	4	Global Variome, with Curator vacancy
00309077	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309078	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309079	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309080	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309081	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309082	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309083	-	PubMed: Sharon 2019	17 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	17	Global Variome, with Curator vacancy
00309084	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309085	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309086	-	PubMed: Sharon 2019	6 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	6	Global Variome, with Curator vacancy
00309087	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309088	-	PubMed: Sharon 2019	13 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	13	Global Variome, with Curator vacancy
00319825	FamAPatII1	PubMed: Eksandh 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Sweden	-	-	-	-	-	retinal disease	Age: 3y6m	1	1	Julia Lopez
00319826	FamCPatII1	PubMed: Eksandh 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Sweden	-	-	-	-	-	retinal disease	Age: 47y	2	1	Julia Lopez
00319827	FamBPatII1	PubMed: Eksandh 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Sweden	-	-	-	-	-	retinal disease	Age: 42y6m	2	1	Julia Lopez
00319828	FamDPatII1	PubMed: Eksandh 2002	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Sweden	-	-	-	-	-	retinal disease	Age: 2y	1	1	Julia Lopez
00320045	-	PubMed: Johnson 2004	2nd variant not found. Probably out of the screening scope.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 39y	1	1	Julia Lopez
00320046	-	PubMed: Johnson 2004	2nd variant not found. Probably out of the screening scope.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 28y	1	1	Julia Lopez
00320047	-	PubMed: Johnson 2004	2nd variant not found. Probably out of the screening scope.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 16y	1	1	Julia Lopez
00320049	-	PubMed: Johnson 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 15y	1	1	Julia Lopez
00320050	-	PubMed: Johnson 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 9y	1	1	Julia Lopez
00320051	-	PubMed: Johnson 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 19y	1	1	Julia Lopez
00320052	-	PubMed: Johnson 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 26y	2	1	Julia Lopez
00320053	-	PubMed: Johnson 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 19y	1	1	Julia Lopez
00320056	-	PubMed: Johnson 2004	2nd variant not found. Probably out of the screening scope.	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 12y	1	1	Julia Lopez
00320059	-	PubMed: Johnson 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 6y	1	1	Julia Lopez
00320062	-	PubMed: Johnson 2004	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	age: 5y	1	1	Julia Lopez
00324249	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00324250	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00324252	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00324253	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00324254	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00324257	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00324260	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00324261	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00324265	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00324267	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00324270	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00324276	-	PubMed: Nishiguchi 2005	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00327984	G001017	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Africa	-	-	-	-	retinal disease	-	2	1	LOVD
00328163	G006297	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328449	14021920	PubMed: Taylor 2017	no family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	cone dysfunction syndrome (HP:0030637)	1	1	LOVD
00328450	14003128	PubMed: Taylor 2017	no family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	cone dysfunction syndrome (HP:0030637)	2	1	LOVD

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Global Variome shared LOVD

CNGA3 (cyclic nucleotide gated channel alpha 3)