All individuals with variants in gene NMNAT1

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.

219 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00003027	-	PubMed: Neveling 2013	Previous tests done: LCA-A, LCA5	-	-	-	-	-	-	-	-	LCA9	-	2	1	Marcel Nelen
00032720	-	-	2-generation family, patient and unaffected heterozygous carrier parents	F	no	India	North India	-	-	-	-	LCA9	Lebers Congenital Amaurosis	1	1	Soumittra Nagasamy
00032721	-	-	2-generation family, 1 affected and unaffected heterozygous carrier parents	M	yes	India	South India	-	-	-	-	LCA9	Lebers Congenital Amaurosis	1	1	Soumittra Nagasamy
00046335	26316326-F1	PubMed: Coppieters 2015	4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives	F	yes	Niger	-	-	-	-	-	LCA9	see paper; ...	9	3	Frauke Coppieters
00046336	26316326-F2	PubMed: Coppieters 2015	4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives	M	yes	Morocco	-	-	-	-	-	LCA9	-	1	2	Frauke Coppieters
00046498	26316326-F3	PubMed: Coppieters 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Japan	-	-	-	-	-	LCA9	-	2	1	Frauke Coppieters
00046499	26316326-F4	PubMed: Coppieters 2015	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Japan	-	-	-	-	-	LCA9	-	2	1	Frauke Coppieters
00046501	-	-	-	M	no	Belgium	-	-	-	-	-	LCA9	-	2	1	Frauke Coppieters
00046502	-	-	-	M	no	Belgium	-	-	-	-	-	LCA9	-	2	1	Frauke Coppieters
00046503	-	-	-	F	no	-	-	-	-	-	-	LCA9	-	2	1	Frauke Coppieters
00046505	-	-	-	M	?	-	-	-	-	-	-	LCA9	-	1	1	Frauke Coppieters
00046506	-	-	-	?	?	-	-	-	-	-	-	LCA9	-	1	1	Frauke Coppieters
00046582	-	PubMed: Koenekoop 2012; Journal: Koenekoop 2012	3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/children	F	no	Canada	French	>56y	-	-	-	LCA9	see paper; no light perception, counting fingers vision, hyperopia, nystagmus, pseudophakia, …	2	2	Johan den Dunnen
00046583	-	PubMed: Koenekoop 2012; Journal: Koenekoop 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents/brother/sister	M	no	Canada	French	>13y	-	-	-	LCA9	see paper; counting fingers vision, hyperopia, nystagmus, …	2	1	Johan den Dunnen
00046584	-	PubMed: Koenekoop 2012; Journal: Koenekoop 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	-	European	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046585	-	PubMed: Koenekoop 2012; Journal: Koenekoop 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Saudi Arabia	-	>10y	-	-	-	LCA9	see paper; no light perception, hyperopia, nystagmus, …	1	1	Johan den Dunnen
00046586	-	PubMed: Koenekoop 2012; Journal: Koenekoop 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United Kingdom (Great Britain)	Irish	>33y	-	-	-	LCA9	see paper; 20/2000vision, hyperopia, nystagmus, …	2	1	Johan den Dunnen
00046587	-	PubMed: Koenekoop 2012; Journal: Koenekoop 2012	-	-	-	Russian Federation	-	>41y	-	-	-	LCA9	see paper; counting fingers vision, hyperopia, nystagmus, …	2	1	Johan den Dunnen
00046588	-	PubMed: Koenekoop 2012; Journal: Koenekoop 2012	-	-	-	Haiti	African	>10y	-	-	-	LCA9	see paper; counting fingers vision, hyperopia, nystagmus, …	2	1	Johan den Dunnen
00046589	-	PubMed: Koenekoop 2012; Journal: Koenekoop 2012	4-generation family, 8 affecteds (7F, 1M), unaffected heterozygous carrier parents/sibs	-	yes	Pakistan	-	-	-	-	-	LCA9	see paper; age 2-30y, light perception vision, congenital visual loss, nystagmus, nyctalopia, 8/8 have acquired macular colobomas, cataracts (PSCC), white retinal dots, retinal pigment, 1/8 has keratoconus, …	1	8	Johan den Dunnen
00046611	-	PubMed: Falk 2012; Journal: Falk 2012	4-generation family seggregating LCA and hearing loss, 7 affecteds (2 LCA, 2 hearing loss, 3 both), unaffected heterozygous carrier parents/sibs	-	yes	Pakistan	-	-	-	-	-	DFNB1A, LCA	see paper; ...	1	7	Johan den Dunnen
00046612	-	PubMed: Falk 2012, Journal: Falk 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents/sister	F	no	United States	Asian	-	-	-	-	LCA9	see paper; ...	2	1	Johan den Dunnen
00046613	-	PubMed: Falk 2012, Journal: Falk 2012	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	United States	African-American	-	-	-	-	LCA9	see paper; ...	2	1	Johan den Dunnen
00046614	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	India	-	-	-	-	-	LCA9	-	1	1	Johan den Dunnen
00046804	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	India	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046805	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	India	-	-	-	-	-	LCA9	-	1	1	Johan den Dunnen
00046806	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	United States	European	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046807	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	United States	Caribbean, Sri Lankan	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046808	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	United States	Caribbean	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046809	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	United States	Caribbean, Irish	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046810	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	United States	Polish	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046811	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	United States	British	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046812	-	PubMed: Falk 2012, Journal: Falk 2012	-	-	-	United States	British	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046813	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046814	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046815	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046816	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046817	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046818	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046819	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046820	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046821	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046822	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046823	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046824	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046825	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046826	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046827	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046828	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046829	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046830	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046831	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046832	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046833	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	1	1	Johan den Dunnen
00046834	-	PubMed: Perrault 2012, Journal: Perrault 2012	-	-	-	France	-	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046835	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	United States	Chinese, Hispanic;Cherokee, Hispanic	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046836	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	Brazil	European	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046837	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	Brazil	Brazilian	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046838	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	Canada	European, west	-	-	-	-	LCA9	-	3	1	Johan den Dunnen
00046839	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	Brazil	African-Protugese;Hispanic	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046840	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	Canada	Greek	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046841	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	United States	European	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046842	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	United States	European	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046843	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	Canada	British;Dutch	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046844	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	Canada	British;Dutch	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00046845	-	PubMed: Chiang 2012, Journal: Chiang 2012	-	-	-	Australia	Australian, English	-	-	-	-	LCA9	-	2	1	Johan den Dunnen
00144156	-	PubMed: Katagiri 2014	index patient	F	no	Japan	Japanese	-	-	-	-	retinal disease	-	1	1	Rob W.J. Collin
00207693	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	Marta de Castro-Miró
00269573	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269574	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269575	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269576	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269577	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269578	-	-	-	M	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269579	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269580	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00269581	-	-	-	F	no	Korea	-	-	-	-	-	LCA	-	2	1	Jinu Han
00289459	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00308407	CIC05012	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00308408	CIC06499	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00308524	-	PubMed: Holtan 2020	1 patient with variant in heterozygous or compound heterozygous form	-	-	Norway	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309242	-	PubMed: Sharon 2019	2 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	2	Global Variome, with Curator vacancy
00325520	EC03	PubMed: Zenteno 2020	single patient	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00327970	G000976	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328020	G001280	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328143	G005544	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00332272	Fam20PatFBP_57	PubMed: Porto 2017	proband	-	-	Brazil	-	-	-	-	-	retinal disease	-	2	1	LOVD
00332368	Fam1565	PubMed: Thompson 2017	-	-	-	Australia	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00332369	Fam1819	PubMed: Thompson 2017	-	-	-	Australia	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00332370	Fam1965	PubMed: Thompson 2017	-	-	-	Australia	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00332385	Pat5;Pat6;Pat6	PubMed: Han 2017, PubMed: Rim 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Korea	-	-	-	-	-	retinal disease	Roving nystagmus; atropic macula; oculodigital sign; ERG extinguished	2	1	LOVD
00332386	Pat4;Pat7;Pat7	PubMed: Han 2017, PubMed: Rim 2017	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Korea	-	-	-	-	-	retinal disease	horizontal jerk nystagmus; atropic macula; oculodigital sign; ERG extinguished	2	1	LOVD
00332387	Pat6;Pat8;Pat8	PubMed: Han 2017, PubMed: Rim 2017	-	F	-	Korea	-	-	-	-	-	retinal disease	Roving nystagmus; atropic macula; oculodigital sign; ERG extinguished	1	1	LOVD
00332463	Pat27	PubMed: Di Iorio 2017	-	-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00333941	400	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2a	2	1	LOVD
00333952	413	PubMed: Stone 2017	family, 2 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	2	LOVD
00333953	414	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	1	LOVD
00333954	415	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2b	2	1	LOVD
00335445	RP023	PubMed: Huang 2018	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00358906	Fam18	PubMed: Wang 2016	-	-	yes	China	Han	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD

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Global Variome shared LOVD

NMNAT1 (nicotinamide nucleotide adenylyltransferase 1)