All individuals with variants in gene SPATA7

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.

128 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
00016612	-	-	-	-	-	-	-	-	-	-	-	-	-	1	1	Christopher Watson
00033121	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00033688	-	-	-	M	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00081004	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	LCA3	Leber congenital amaurosis 3 (OMIM:604232)	1	1	Daniel Trujillano
00155552	MOL0401	PubMed: Sharon 2019	family	M	yes	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	1	Dror Sharon
00207470	-	-	-	F	-	-	-	-	-	-	-	LCA	-	2	2	Marta de Castro-Miró
00207684	-	-	-	F	-	-	-	-	-	-	-	RD	-	2	1	Marta de Castro-Miró
00233250	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	122	Yoshito Koyanagi
00233251	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	28	Yoshito Koyanagi
00233252	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	475	Yoshito Koyanagi
00233253	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233254	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233255	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233256	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233257	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	8	Yoshito Koyanagi
00233258	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233259	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	16	Yoshito Koyanagi
00233260	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233261	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233262	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	10	Yoshito Koyanagi
00233263	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	63	Yoshito Koyanagi
00233777	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	6	Yoshito Koyanagi
00233778	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	4	Yoshito Koyanagi
00233779	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1203 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	98	Yoshito Koyanagi
00233780	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00269586	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269593	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00291135	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00309426	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309427	MOL0758	PubMed: Sharon 2015, PubMed: Beryozkin 2015, PubMed: Sharon 2019	family	-	-	Israel	Arab-Muslim	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309428	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00325413	169	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00332270	Fam16PatFBP_49	PubMed: Porto 2017	proband	-	-	Brazil	-	-	-	-	-	retinal disease	-	2	1	LOVD
00332355	Fam1543	PubMed: Thompson 2017	family, 2 affected	-	-	Australia	-	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00332391	Pat7;Pat12;Pat12	PubMed: Han 2017, PubMed: Rim 2017	-	F	-	Korea	-	-	-	-	-	retinal disease	Roving nystagmus; fundus grossly normal; oculodigital sign; ERG extinguished	1	1	LOVD
00332454	Pat12	PubMed: Di Iorio 2017	-	-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333464	SRF_692	PubMed: Soens 2017	possible duplicate	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333482	ZPQ_055	PubMed: Soens 2017	possible duplicate	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00335170	751	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	0y-diagnosis visual impairment	2	1	LOVD
00335399	RP034	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358911	Fam23	PubMed: Wang 2016	family, 1 affected, unaffected heterozygous mother	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00358912	Fam24	PubMed: Wang 2016	family, 1 affected, unaffected heterozygous carrier parents	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00359078	12012257	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00359209	12002956	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00363648	11DG1312	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363651	11DG1397	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363652	11DG1400	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363657	11DG1673	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00368356	RP250	PubMed: Xu 2014	Younger brother affected as well	M	no	China	China	-	-	-	-	retinal disease	At the age of 19, the visual acuity was 0.04/0.03 (OD/OS). The fundus showed: attenuated retinal arteries;macular degeneration. ERG response of the rods was: Extinguished and of the cones was Severe.	1	1	Stéphanie Cornelis
00372075	FamLCA-11	PubMed: Srilekha 2015	family	-	yes	India	India-S	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372455	86	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372458	558	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372492	692	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372635	RP399	PubMed: Xu 2014	patient	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372664	RP307	PubMed: Xu 2014	patient	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372677	RP236	PubMed: Xu 2014	patient	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00372686	RP223	PubMed: Xu 2014	patient	M	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372701	RP391	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00372737	RP225	PubMed: Xu 2014	-	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00373897	OGI-039-096	PubMed: Consugar 2015	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00375410	RP#001	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375419	RP#011	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375443	MA15	PubMed: Watson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00376793	60	PubMed: Wang 2014	-	F	-	United States	-	-	-	-	-	retinal disease	-	1	1	LOVD
00377524	EYE69	PubMed: Hosono 2018	proband, family EYE69	M	no	Japan	Asian	-	-	-	-	retinal disease	see paper	1	1	LOVD
00377544	S132	PubMed: Hosono 2018	proband, family S132	F	no	Japan	Asian	-	-	-	-	retinal disease	see paper	1	1	LOVD
00377884	-	PubMed: li 2011	Wang et al., 2009	M	no	China	Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00377885	-	PubMed: li 2011	-	M	no	China	Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00377896	-	PubMed: li 2011	Twin#	M	no	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00377897	-	PubMed: li 2011	-	M	no	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00377905	-	PubMed: li 2011	-	M	no	China	Chinese	-	-	-	-	retinal disease	nystagmus, poor vision	1	1	LOVD
00379676	IR_GH_0066	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	LCA	HP:0032122, HP:0000662, HP:0000613, HP:0001133, HP:0000551, HP:0001288, HP:0000007, HP:0000639, HP:0000510	2	1	Jinu Han
00379767	IR_GH_0119	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	RP	HP:0032037, HP:0000662, HP:0000613, HP:0001133, HP:0000510	2	1	Jinu Han
00379896	2016082903	PubMed: Wang 2018	-	M	?	China	Han Chinese	-	-	-	-	retinal disease	-	2	1	LOVD
00380836	Pat16	PubMed: Ivanova 2018	-	F	-	Russian Federation	Slavonian	-	-	-	-	USH	-	1	1	LOVD
00381042	-	PubMed: Chen-2013	-	-	-	China	Chinese	-	-	-	-	retinal disease	-	1	1	LOVD
00381160	-	PubMed: Nishiguchi-2013	-	F	yes	-	Japanese	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381164	-	PubMed: Nishiguchi-2013	-	F	yes	-	Japanese	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381197	-	PubMed: Wang-2013	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381217	-	PubMed: Wang-2013	novel LOF mutations	-	no	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381218	-	PubMed: Wang-2013	novel LOF mutations	-	no	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00381625	-	PubMed: Eisenberger-2013	-	M	no	Germany	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381657	-	PubMed: Eisenberger-2013	-	F	yes	Turkey	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383985	RP-1374	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383994	RP-1478	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384026	RP-1736	PubMed: Martin Merida 2019	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384208	066878	PubMed: Tayebi 2019	-	-	-	Iran	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385063	67010	PubMed: Xu 2020	-	?	no	China	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: NA	1	1	LOVD
00387077	103	PubMed: Jauregui 2020	-	M	-	(United States)	white	-	-	-	-	retinal disease	-	1	1	LOVD
00387626	11	PubMed: Zanolli 2020	individual ID not present in paper, consecutive numbers given	?	-	Chile	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388178	35;Pat82	PubMed: Surl 2020, PubMed: Moon 2021	-	F	-	Korea	-	-	-	-	-	retinal disease	Nystagmus: Wandering eye movement, best corrected visual acuity right eye/left eye: LP+/LP+, fundus: Marble fundus & Salt and pepper like degeneration, ERG: Extinguished	2	1	LOVD
00388185	42	PubMed: Surl 2020	individual previously described in PMID:29145603, PMID:28966547 - possible duplicate in the database	M	-	Korea	-	-	-	-	-	retinal disease	Nystagmus: 1-2Hz pendular nystagmus, best corrected visual acuity right eye/left eye: HM/HM, fundus: Pigmentary retinal changes at periphery, ERG: Extinguished	2	1	LOVD
00391568	65	PubMed: Hull 2020	-	?	-	New Zealand	Pacific	-	-	-	-	retinal disease	-	1	1	LOVD
00391569	66	PubMed: Hull 2020	-	?	-	New Zealand	Asian	-	-	-	-	retinal disease	-	1	1	LOVD
00391717	104	PubMed: Sallum 2020	-	?	-	Brazil	-	-	-	-	-	retinal disease	-	2	1	LOVD
00391718	105	PubMed: Sallum 2020	-	?	-	Brazil	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 20/200;20/400	1	1	LOVD
00391719	106	PubMed: Sallum 2020	-	?	-	Brazil	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 20/200;20/200	2	1	LOVD
00393462	-	PubMed: Liu-2020	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00393839	-	PubMed: Liu-2020	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00394005	-	PubMed: Salmaninejad-202	-	-	yes	-	Iranian	-	-	-	-	retinal disease	-	1	1	LOVD

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Global Variome shared LOVD

SPATA7 (spermatogenesis associated 7)