All individuals with variants in gene GUCY2D

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.

823 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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00016609	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00033098	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033104	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00033123	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00033130	-	-	-	M	-	-	-	-	-	-	-	retinal disease	Wilm's tumor	1	1	Kornelia Neveling
00033132	-	PubMed: Neveling 2012	-	M	no	-	-	-	-	-	-	retinal disease	retinal degeneration, severe, early onset (EOSRD)	1	1	Kornelia Neveling
00033138	-	-	-	M	-	-	-	-	-	-	-	retinal disease	hypertension	1	1	Kornelia Neveling
00033139	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033141	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033150	-	-	-	F	-	-	-	-	-	-	-	retinal disease	malignant hypertension with renal failure, followed by transplant	1	1	Kornelia Neveling
00033151	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033152	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033154	-	-	-	F	-	-	-	-	-	-	-	retinal disease	epilepsy	1	1	Kornelia Neveling
00033160	-	-	-	F	-	-	-	-	-	-	-	retinal disease	diabetes mellitus type 1	1	1	Kornelia Neveling
00033163	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033167	-	-	-	F	-	-	-	-	-	-	-	retinal disease	hyperornithemia	1	1	Kornelia Neveling
00033169	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	1	1	Kornelia Neveling
00033616	-	-	-	M	yes	India	India, south	-	-	-	-	LCA	-	2	2	Soumittra Nagasamy
00033637	-	PubMed: de Castro-Miró 2014	-	-	-	Spain	-	-	-	-	-	COD	-	1	13	Marta de Castro-Miró
00033694	-	-	-	M	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033695	-	-	-	F	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033696	-	-	-	F	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033697	-	-	-	F	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033698	-	-	-	M	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033699	-	-	-	F	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033700	-	-	-	F	yes	India	India, south	-	-	-	-	LCA	-	1	2	Soumittra Nagasamy
00033701	-	-	-	F	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00033702	-	-	-	M	no	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00038052	-	PubMed: Vallespin 2007	-	M	?	Spain	Spanish	-	-	-	-	LCA	?	1	2	Frans Cremers
00038053	-	PubMed: Vallespin 2007	-	M	?	Spain	Spanish	-	-	-	-	LCA	?	1	2	Frans Cremers
00038054	-	PubMed: Vallespin 2007	-	?	?	Spain	Spanish	-	-	-	-	LCA	?	1	2	Frans Cremers
00038069	-	PubMed: Vallespin 2007	-	?	?	Spain	Spanish	-	-	-	-	retinal disease	?	1	4	Frans Cremers
00038305	-	PubMed: Jinda 2014	-	F	no	Thailand	Thai	-	-	-	-	retinal disease	Blurred vision since birth, photophobia, poor night vision, pale optic disc, heavy bone spicules 360 degree, macular RPE changes, non-recordable ERG	1	1	Frans Cremers
00052513	-	PubMed: Silva 2004	-	F	yes	Greece	Greek	-	-	-	-	LCA	Leber congenital amaurosis; congenital blindness, nystagmus, nonrecordable ERG	1	1	Muhammad Ajmal
00052946	CaseV	PubMed: Wang 2014	-	?	?	United States	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Muhammad Ajmal
00078524	-	-	-	M	yes	Israel	Bedouin	-	-	-	-	LCA	-	1	1	Yonatan Perez
00100069	PKRD077;61077	PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	RD	early onset RD	1	1	James Hejtmancik
00100073	PKRD103;61103	PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017	-	F	yes	Pakistan	Pakistani	-	-	-	-	RD	-	1	1	James Hejtmancik
00104989	58ORG1	PubMed: de Castro-Miró 2014	-	-	yes	Saudi Arabia	-	-	-	-	-	LCA	-	1	1	Marta de Castro-Miró
00155475	-	Sharon, submitted	-	M	no	Israel	African-N;Jewish	-	-	-	-	LCA	-	1	1	Dror Sharon
00155476	-	Sharon, submitted	-	M	yes	Israel	Beduin	-	-	-	-	LCA	-	1	1	Dror Sharon
00155477	-	Sharon, submitted	-	M	yes	Israel	Jewish-Oriental	-	-	-	-	LCA	-	1	1	Dror Sharon
00155478	-	Sharon, submitted	-	M	yes	Israel	Jewish-Ashkenazi	-	-	-	-	retinal disease	-	1	2	Dror Sharon
00155479	-	Sharon, submitted	-	M	no	Israel	Jewish-Ashkenazi	-	-	-	-	retinal disease	-	2	2	Dror Sharon
00207590	-	-	-	?	-	-	-	-	-	-	-	LCA	-	1	3	Marta de Castro-Miró
00207662	-	-	-	M	-	-	-	-	-	-	-	CORD	-	1	1	Marta de Castro-Miró
00207680	-	-	-	F	-	-	-	-	-	-	-	LCA	-	1	1	Marta de Castro-Miró
00207685	-	-	-	F	-	-	-	-	-	-	-	LCA	-	1	1	Marta de Castro-Miró
00240438	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00240439	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00240440	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00240441	-	-	-	F	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00269474	-	-	-	-	-	-	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269541	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	1	1	Jinu Han
00269542	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269543	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269567	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	1	1	Jinu Han
00269568	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269569	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269570	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269571	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	3	1	Jinu Han
00269591	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00275683	-	affected mother and child	-	F	no	Poland	slavic	>10y	-	yes	-	STGD	HP:0007663 , HP:0000608, HP:0030500, HP:0000006	1	1	Marzena Wojtaszewska
00291891	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00291892	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	7	Mohammed Faruq
00303622	Family_29	PubMed: Makrythanasis 2014	family, 2 affected	-	yes	Jordan	-	-	-	-	-	?	see paper; ..., visual impairment	1	2	Johan den Dunnen
00304612	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00308381	CIC00324	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308382	CIC03249	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308383	CIC04347	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308384	CIC04918	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308385	CIC00597	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308512	-	PubMed: Holtan 2020	5 patients with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	5	Global Variome, with Curator vacancy
00308634	-	PubMed: Holtan 2020	2 homozygous patients	-	-	Norway	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00308658	-	PubMed: Kim 2019	-	-	-	Korea	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00308659	-	PubMed: Kim 2019	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308752	-	PubMed: Le 2019	analysis 305 unrelated individuals	-	-	Viet Nam	-	-	-	-	-	Healthy/Control	-	1	1	Global Variome, with Curator vacancy
00309175	-	PubMed: Sharon 2019	9 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	9	Global Variome, with Curator vacancy
00309176	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309177	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309178	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309179	-	PubMed: Sharon 2019	5 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	5	Global Variome, with Curator vacancy
00309180	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309181	-	PubMed: Sharon 2019	6 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	6	Global Variome, with Curator vacancy
00309182	-	PubMed: Sharon 2019	4 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	4	Global Variome, with Curator vacancy
00309183	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309184	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309185	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309186	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309187	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309188	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309673	MOL0490	PubMed: Lazar 2015	3-generation family, 7 affected (5F, 2M)	F;M	-	Turkey	Jewish	-	-	-	-	retinal disease	see paper; ...	1	7	Global Variome, with Curator vacancy
00309674	MOL0859	PubMed: Lazar 2015	3-generation family, 2 affected (F, M)	F;M	-	Israel	Jewish-Ashkenazi	-	-	-	-	retinal disease	see paper; ...	1	2	Global Variome, with Curator vacancy
00309675	MOL1103	PubMed: Lazar 2015	2-generation family, 3 affected (3M)	M	-	Israel	Arab Muslim	-	-	-	-	retinal disease	see paper; ...	1	3	Global Variome, with Curator vacancy
00309676	MOL0083	PubMed: Lazar 2015	4-generation family, 6 affected (3F, 3M)	F;M	-	Israel	Jewish-Ashkenazi	-	-	-	-	retinal disease	see paper; ...	1	6	Global Variome, with Curator vacancy
00309677	MOL0248	PubMed: Lazar 2015	2-generation family, 1 affected	M	-	Israel	Jewish-Ashkenazi	-	-	-	-	retinal disease	see paper; ...	1	1	Global Variome, with Curator vacancy
00309678	MOL0430	PubMed: Lazar 2015	family, 1 affected	M	-	-	Africa-N;Jewish	-	-	-	-	retinal disease	see paper; ...	1	1	Global Variome, with Curator vacancy
00309679	MOL0508	PubMed: Lazar 2015	4-generation family, 2 affected (F, M)	F;M	yes	Israel	Jewish-Ashkenazi	-	-	-	-	retinal disease	see paper; ...	1	2	Global Variome, with Curator vacancy
00325431	1985	PubMed: Zenteno 2020	-	-	-	Mexico	-	-	-	-	-	retinal disease	Leber congenital amaurosis	2	1	Johan den Dunnen

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Global Variome shared LOVD

GUCY2D (guanylate cyclase 2D, membrane (retina-spe...))