All individuals with variants in gene NPHP1

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.

187 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
00001814	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00292228	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00292229	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00292230	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	26	Mohammed Faruq
00302717	P46	PubMed: Al Alawi 2019, Journal: Al Alawi 2019	-	F	-	Oman	-	-	-	-	-	PKD	-	1	1	Intisar Al Alawi
00302718	P48	PubMed: Al Alawi 2019, Journal: Al Alawi 2019	-	M	-	Oman	-	-	-	-	-	PKD	-	1	1	Intisar Al Alawi
00302720	P50	PubMed: Al Alawi 2019, Journal: Al Alawi 2019	-	F	-	Oman	-	-	-	-	-	PKD	-	1	1	Intisar Al Alawi
00309243	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309244	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00331978	Pat115	PubMed: Birtel 2018	patient	F	-	Germany	-	-	-	-	-	retinal disease	reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline	1	1	LOVD
00334098	631	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB4	2	1	LOVD
00358809	RC2-0311	PubMed: Lindstrand 2016	-	M	yes	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358811	AR888-0311	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358817	44/311	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358818	AR704-0311	PubMed: Lindstrand 2016	-	F	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00363565	Fam476Pat1310,476	PubMed: Srour 2015	-	M	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	2	1	LOVD
00363566	Fam604Pat1712,604	PubMed: Srour 2015	-	F	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00363567	Fam669Pat1915,669	PubMed: Srour 2015	-	F	-	Canada	French-Canadian	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372297	UW019-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372298	UW023-1	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372299	UW229-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372300	UW247-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372301	UW264-3	PubMed: Bachmann-Gagescu 2015	patient	-	-	-	-	-	-	-	-	JBTS	see paper; ...	1	1	LOVD
00372512	689	PubMed: Wang 2015	index case	-	-	China	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00373759	-	PubMed: Tory 2007	-	-	-	France	French	-	-	-	-	retinal disease	Normal (10y); visual impairment; nystagmus; mental retardation; Autism, ptosis	1	1	Julia Lopez
00373760	-	PubMed: Tory 2007	-	-	-	France	French	-	-	-	-	retinal disease	ESRD (17y); visual impairment	1	1	Julia Lopez
00373761	-	PubMed: Tory 2007	-	-	-	France	French	-	-	-	-	retinal disease	ESRD (15y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign	1	1	Julia Lopez
00373762	-	PubMed: Tory 2007	-	-	-	France	French	-	-	-	-	retinal disease	CRF (12y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign	1	1	Julia Lopez
00373763	-	PubMed: Tory 2007	-	-	-	France	French	-	-	-	-	retinal disease	ESRD (13y); cogan oculomotor apraxia; mental retardation; molar tooth sign	1	1	Julia Lopez
00373764	-	PubMed: Tory 2007	-	-	yes	Morocco	-	-	-	-	-	retinal disease	ESRD (7y); visual impairment; nystagmus; mental retardation; Convulsions	1	1	Julia Lopez
00373765	-	PubMed: Tory 2007	-	-	-	France	-	-	-	-	-	retinal disease	ESRD (7y); visual impairment; nystagmus; cerebellar ataxia; mental retardation; molar tooth sign	1	1	Julia Lopez
00373766	-	PubMed: Tory 2007	-	-	-	France	-	-	-	-	-	retinal disease	ESRD (9y); nystagmus; mental retardation	1	1	Julia Lopez
00373767	-	PubMed: Tory 2007	-	-	-	France	-	-	-	-	-	retinal disease	ESRD (12y); mental retardation	1	1	Julia Lopez
00373768	-	PubMed: Tory 2007	Unknown 2nd variant	-	-	France	-	-	-	-	-	retinal disease	ESRD (8y); visual impairment; cogan oculomotor apraxia; cerebellar ataxia	1	1	Julia Lopez
00373769	-	PubMed: Tory 2007	-	-	yes	Senegal	-	-	-	-	-	retinal disease	ESRD (8y)	1	1	Julia Lopez
00373770	-	PubMed: Tory 2007	-	-	-	-	-	-	-	-	-	retinal disease	normal (7y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign	1	1	Julia Lopez
00373771	-	PubMed: Tory 2007	-	-	-	France	-	-	-	-	-	retinal disease	CRF (8y); visual impairment; nystagmus; cerebellar ataxia; mental retardation; molar tooth sign	1	1	Julia Lopez
00373772	-	PubMed: Tory 2007	-	-	-	-	-	-	-	-	-	retinal disease	ESRD (10y); visual impairment; nystagmus; cerebellar ataxia; mental retardation; molar tooth sign	1	1	Julia Lopez
00373773	-	PubMed: Tory 2007	-	-	-	France	-	-	-	-	-	retinal disease	UCD (5y); cerebellar ataxia; molar tooth sign; Polydactyly	2	1	Julia Lopez
00373774	-	PubMed: Tory 2007	-	-	yes	Turkey	-	-	-	-	-	retinal disease	ESRD (18y); visual impairment; cogan oculomotor apraxia; mental retardation	1	1	Julia Lopez
00374557	S-5367	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00375418	RP#010	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00375427	RP#021	PubMed: Katagiri 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00377678	438	PubMed: Brooks 2018	family 66	M	-	United States	-	-	-	-	-	retinal disease	kidney disease, oculomotor apraxia	1	1	LOVD
00377679	463	PubMed: Brooks 2018	family 67	F	-	United States	-	-	-	-	-	retinal disease	kidney disease, retinal degeneration	1	1	LOVD
00377680	462	PubMed: Brooks 2018	family 67	M	-	United States	-	-	-	-	-	retinal disease	kidney disease, oculomotor apraxia, retinal degeneration, vessel attenuation	1	1	LOVD
00379715	N1	PubMed: Hussain 2018	-	?	-	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379716	N3	PubMed: Hussain 2018	-	?	-	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379717	N4	PubMed: Hussain 2018	-	?	-	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379718	N7	PubMed: Hussain 2018	-	?	-	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379719	N8	PubMed: Hussain 2018	-	?	-	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00379721	N13	PubMed: Hussain 2018	-	?	-	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381721	-	PubMed: Wang-2014	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382828	-	PubMed: Parisi-2006	-	F	no	-	white	-	-	-	-	retinal disease	molar tooth sign on MRI	1	2	LOVD
00382829	-	PubMed: Parisi-2006	-	M	no	-	white	-	-	-	-	retinal disease	molar tooth sign on MRI	1	1	LOVD
00382830	-	PubMed: Parisi-2006	-	F	no	-	Italian	-	-	-	-	retinal disease	molar tooth sign on MRI	1	1	LOVD
00385240	-	PubMed: Redin-2012	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385277	-	PubMed: M'hamdi-2014	-	F	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	obesity, retinitis pigmentosa, polydactyly, hypogenitalism, neonatal hypotonia, visual impairment	1	1	LOVD
00385635	RC2-03	PubMed: Lindstrand-2014	-	M	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly, hypogonadism, developmental delay, nephronophthisis	1	1	LOVD
00385636	AR704-03	PubMed: Lindstrand-2014	-	F	-	-	N.European	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly, obesity, developmental delay	1	1	LOVD
00385637	AR704-04	PubMed: Lindstrand-2014	-	F	-	-	N.European	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly, obesity, developmental delay	1	1	LOVD
00385638	44/3	PubMed: Lindstrand-2014	-	M	-	Israel	Israeli	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly, obesity, hypogonadism, developmental delay, born with one kidney; chronic renal failure; kidney transplantation	1	1	LOVD
00385639	44/4	PubMed: Lindstrand-2014	-	F	-	Israel	Israeli	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly, obesity, developmental delay	1	1	LOVD
00385640	AR888-03	PubMed: Lindstrand-2014	-	F	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly, obesity, developmental delay, impaired renal function; kidney cysts; enlarged kidney	1	1	LOVD
00385641	RC1-03	PubMed: Lindstrand-2014	-	M	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly, obesity, hypogonadism, developmental delay	1	1	LOVD
00385642	DM012-003	PubMed: Lindstrand-2014	-	M	-	-	N.European	-	-	-	-	retinal disease	retinitis pigmentosa, polydactyly, obesity, developmental delay	1	1	LOVD
00385643	R1-04	PubMed: Lindstrand-2014	-	M	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa,	1	1	LOVD
00385644	R1-05	PubMed: Lindstrand-2014	-	M	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa,	1	1	LOVD
00385645	AR082-03	PubMed: Lindstrand-2014	-	M	-	-	Latino	-	-	-	-	retinal disease	retinitis pigmentosa,	1	1	LOVD
00386897	OGI2940_004525	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387503	-	PubMed: Bifari 2015	Excels in school	M	yes	Saudi Arabia	Saudi	-	-	-	-	retinal disease	-	1	1	LOVD
00388030	5	PubMed: Wang 2016	-	F	-	United States	-	-	-	-	-	retinal disease	Infantile nystagmus, poor vision from birth, non-recordable ERG	2	1	LOVD
00388141	-	PubMed: Qi_2017	-	F	-	China	Chinese	-	-	-	-	retinal disease	polydipsia, polyuria, kidney malformations (renal cysts), renal dysfunction, retinal degeneration, cognitive impairment, polydactyly, enamel hypoplasia, short stature and myocardial damage.	1	1	LOVD
00388499	14009753	PubMed: Ellingsford 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388509	14015751	PubMed: Ellingsford 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388510	14018818	PubMed: Ellingsford 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388511	15008560	PubMed: Ellingsford 2018	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390471	G006020	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00391178	140	PubMed: Gliem 2020	-	F	-	(Germany)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395889	F306	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00399833	806	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399834	837	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399835	1005	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399836	899	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399837	458	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399838	652	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399839	877	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399840	1003	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399841	1010	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399842	911	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399843	909	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	2	1	Johan den Dunnen
00399844	612	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399845	602	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399846	1012	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399847	1018	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399848	1020	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399849	1021	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399850	1024	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399851	1027	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen
00399852	1028	PubMed: Tang 2022, Journal: Tang 2022	-	-	-	China	-	-	-	-	-	NPHP	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

NPHP1 (nephronophthisis 1 (juvenile))