All individuals with variants in gene IQCB1

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.

169 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00034507	-	PubMed: Wang 2011, Journal: Wang 2011	5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs	-	yes	Saudi Arabia	-	-	-	-	-	LCA	typical Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosi	1	3	Johan den Dunnen
00034508	-	PubMed: Wang 2011, Journal: Wang 2011	6-generation family, affected male, family, unaffected heterozygous carrier parents/sibs	M	yes	Saudi Arabia	-	-	-	-	-	LCA	typical Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosis	1	1	Johan den Dunnen
00034509	-	PubMed: Wang 2011, Journal: Wang 2011	4-generation family, affected male, family, unaffected heterozygous carrier parents/sibs	M	yes	Saudi Arabia	-	-	-	-	-	LCA	typical LCA Leber congenital amaurosis with nystagmus, nonrecordable ERGs and other visual defects; no kidney defects at time diagnosis	1	1	Johan den Dunnen
00034510	-	-	-	F	yes	India	South India	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Soumittra Nagasamy
00034511	-	-	-	M	no	India	North India	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Soumittra Nagasamy
00034512	-	-	-	F	no	India	North India	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Soumittra Nagasamy
00034513	-	-	-	F	yes	India	South India	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Soumittra Nagasamy
00080931	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	SLSN5	Senior-Loken syndrome type 5 (OMIM:609254)	1	1	Daniel Trujillano
00155482	-	Sharon, submitted	-	F	no	Israel	Jewish-Ashkenazi	-	-	-	-	LCA	-	1	1	Dror Sharon
00155483	-	Sharon, submitted	-	F	yes	Israel	Arab Christian	-	-	-	-	SLSN	-	1	1	Dror Sharon
00293185	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	18	Mohammed Faruq
00308412	CIC00953	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00308516	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308517	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309201	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309202	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00328017	G001275	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328086	G005007	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328194	G007704	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00332182	JB333	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332205	JB28	PubMed: Bryant 2018	-	-	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332266	Fam10PatFBP_30	PubMed: Porto 2017	proband	-	-	Brazil	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332274	Fam28PatFBP_67	PubMed: Porto 2017	proband	-	-	Brazil	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332458	Pat21	PubMed: Di Iorio 2017	-	-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00332465	Pat32	PubMed: Di Iorio 2017	-	-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00332555	-	-	-	M	-	-	-	-	-	-	-	?	Rod-cone dystrophy (HP:0000510)	1	1	IMGAG
00333362	Pat2	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333939	398	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2a	2	1	LOVD
00333940	399	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2a	1	1	LOVD
00333949	410	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	1	LOVD
00333950	411	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	1	LOVD
00333974	438	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2c	2	1	LOVD
00335125	1955	PubMed: Haer-Wigman 2017	family	-	no	Netherlands	-	-	-	-	-	?	Senior Loken syndrome	2	1	LOVD
00335126	52	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	5y-diagnosis visual impairment	2	1	LOVD
00358728	-	PubMed: Carrigan 2016	-	-	-	Ireland	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358729	-	PubMed: Carrigan 2016	-	-	-	Ireland	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00360410	571	PubMed: Wang 2015	index case	F	-	China	Asia	-	-	-	-	retinal disease	visual acuity: OD = light perception, OS = light perception. Patient experienced hyperopia	2	1	Manon Peeters
00362913	ARRP165	PubMed: Weisschuh 2016	family	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372070	FamLCA-4	PubMed: Srilekha 2015	family	-	yes	India	India-S	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372414	154	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372415	697	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373894	OGI-326-773	PubMed: Consugar 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00376861	Fam9	PubMed: Coppieters 2014	see paper	-	-	Turkey	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376862	Fam10	PubMed: Coppieters 2014	see paper	-	yes	Belgium	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376871	Fam21	PubMed: Coppieters 2014	see paper	-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377750	-	PubMed: Otto 2011	-	-	-	Germany	-	-	-	-	-	retinal disease	microcephaly,retinal dystrophy,nystagmus,cerebellar vermis aplasia,ataxia,mental retar	1	1	LOVD
00377781	-	PubMed: Otto 2011	-	-	yes	Turkey	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377916	-	PubMed: Chaki 2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377917	-	PubMed: Chaki 2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379720	N10	PubMed: Hussain 2018	-	?	-	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381033	-	PubMed: Chen-2013	-	M	-	China	Chinese	-	-	-	-	retinal disease	poor vision, nystagmus	1	1	LOVD
00381034	-	PubMed: Chen-2013	-	F	-	China	Chinese	-	-	-	-	retinal disease	poor vision, roving nystagmus	1	1	LOVD
00381145	-	PubMed: Verma-2013	-	M	yes	India	South Indian	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381209	-	PubMed: Wang-2013	novel LOF mutations	-	no	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00381210	-	PubMed: Wang-2013	novel LOF mutations	-	no	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00381211	-	PubMed: Wang-2013	novel LOF mutations	-	no	-	-	-	-	-	-	retinal disease	-	2	1	Julia Lopez
00382257	86	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382556	418	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382557	419	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384316	13641	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384341	13780	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384351	13862	PubMed: Wang 2019	-	F	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384420	14408	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	2	1	LOVD
00385024	19398	PubMed: Xu 2020	-	?	no	China	-	-	-	-	-	retinal disease	nyctalopia, no nystagmus, ERG severely declined, best corrected visual acuity right/left eye: 0.3/0.2	2	1	LOVD
00385159	46	PubMed: Jiman 2020	-	F	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	Referred with FHx of SLS but does not fulfil criteria; HP:0000510 Rod-cone dystrophy	1	1	LOVD
00385235	-	PubMed: Redin-2012	-	-	-	Portugal	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386160	RPN-234	PubMed: RodriguezjalopezMunoz 2020	family fRPN-100, proband	M	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386262	RPN-104	PubMed: Rodriguez-Munoz 2020	family fRPN-38, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386267	RPN-116	PubMed: Rodriguez-Munoz 2020	family fRPN-45, proband	M	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387576	-	PubMed: Ghessari 2015	-	-	-	Iran	Iranian	-	-	-	-	retinal disease	-	1	5	LOVD
00388731	15	PubMed: Weisschuh 2020	Filing key number: 9, Leber congenital amaurosis, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00389157	441	PubMed: Weisschuh 2020	Filing key number: 141, Leber congenital amaurosis, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00389216	500	PubMed: Weisschuh 2020	Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389217	501	PubMed: Weisschuh 2020	Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389218	502	PubMed: Weisschuh 2020	Filing key number: 165, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00390289	G001275	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	2	1	LOVD
00390290	G005007	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	2	1	LOVD
00390291	G007704	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	2	1	LOVD
00390292	G012335	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00390746	F4_III.2	PubMed: Habibi 2020	Family F4, patient III.1	F	-	Tunisia	-	-	-	-	-	retinal disease	Visual acuity right eye/left eye: 1/20_1/20, normal fundus appearance, normal macula, ERG: extinct response	1	1	LOVD
00390747	F4_III.1	PubMed: Habibi 2020	Family F4, patient III.2	M	-	Tunisia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00391652	49	PubMed: Sallum 2020	-	?	-	Brazil	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: light perception	1	1	LOVD
00391653	50	PubMed: Sallum 2020	-	?	-	Brazil	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: light perception	1	1	LOVD
00391654	51	PubMed: Sallum 2020	-	?	-	Brazil	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: light perception	1	1	LOVD
00391655	52	PubMed: Sallum 2020	-	?	-	Brazil	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 20/40:20/50	2	1	LOVD
00391751	136	PubMed: Sallum 2020	-	?	-	Brazil	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: light perception	1	1	LOVD
00394604	-	PubMed: Colombo-2020	-	M	yes	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395429	F10‑III	PubMed: Shen 2021	-	F	yes	China	-	-	-	-	-	retinal disease	Vision impairment, nystagmus, best corrected visual acuity hand movement/hand movement	1	1	LOVD
00407123	F1 (II-1)	PubMed: Otto 2005	family F1, individual II-1	?	yes	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407124	F1 (II-2)	PubMed: Otto 2005	family F1, individual II-2	?	yes	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407125	F399 (II-1)	PubMed: Otto 2005	family F399, individual II-1	?	no	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407126	F408 (II-1)	PubMed: Otto 2005	family F408, individual II-1	?	no	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407127	F409 (II-1)	PubMed: Otto 2005	family F409, individual II-1	?	no	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407128	F53 (II-2)	PubMed: Otto 2005	family F53, individual II-2	?	no	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407129	F269 (II-1)	PubMed: Otto 2005	family F269, individual II-1	?	no	Germany	-	-	-	-	-	retinal disease	-	2	1	LOVD
00407130	A19 (II-1)	PubMed: Otto 2005	family A19, individual II-1	?	no	Germany	-	-	-	-	-	retinal disease	-	2	1	LOVD
00407131	F2 (II-1)	PubMed: Otto 2005	family F2, individual II-1	?	no	Italy	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407132	F189 (II-1)	PubMed: Otto 2005	family F189, individual II-1	?	yes	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00407133	F64 (II-3)	PubMed: Otto 2005	family F64, individual II-3	?	no	-	North Africa	-	-	-	-	retinal disease	-	1	1	LOVD
00407134	F1146 (II-1)	PubMed: Otto 2005	family F1146, individual II-1	?	yes	Belgium	-	-	-	-	-	retinal disease	-	1	1	LOVD

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Global Variome shared LOVD

IQCB1 (IQ motif containing B1)