All individuals with variants in gene ARL6

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.

72 entries on 1 page. Showing entries 1 - 72.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00033156	-	-	-	F	-	-	-	-	-	-	-	retinal disease	obesity, familial hypercholesterolemia, recurrent cystitis (5y), heart murmur	2	1	Kornelia Neveling
00063828	-	-	-	M	yes	Pakistan	-	-	-	-	-	BBS	CRD/RP, Polydactyly, Hypogonadism. Renal parenchymal disease; deceased due to renal failure.	1	1	Muhammad Ajmal
00063829	-	-	-	M	yes	Pakistan	-	-	-	-	-	BBS	CRD/RP, Polydactyly, Hypogonadism, no renal disease	1	1	Muhammad Ajmal
00095951	61049	PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	-	-	-	retinal disease	progressive RP	1	1	James Hejtmancik
00232398	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00240423	-	-	-	M	-	Mexico	-	-	-	-	-	RD	-	1	1	Juan Carlos Zenteno
00293487	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00308951	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00325424	1521	PubMed: Zenteno 2020	family	-	-	Mexico	-	-	-	-	-	retinal disease	retinitis pigmentosa	1	1	Johan den Dunnen
00327919	B240028	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00335456	RF.S.0711	PubMed: Biswas 2017	-	-	-	Iraq	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00358804	DM034-004	PubMed: Lindstrand 2016	-	M	no	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358805	KK11-04	PubMed: Lindstrand 2016	-	M	yes	United States	-	-	-	-	-	BBS	see paper; ...	1	1	LOVD
00358939	Fam03	PubMed: Sundaramurthy 2016	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	yes	India	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00358964	Case72007	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363665	11DG2051	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00380362	-	PubMed: M'hamdi_2014	-	F	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	retinitis pigmentaria	1	1	LOVD
00380363	-	PubMed: M'hamdi_2014	-	M	yes	Tunisia	Tunisian	-	-	-	-	retinal disease	retinitis pigmentaria	1	1	LOVD
00382607	470	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383135	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly	1	1	LOVD
00383141	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly, hypogonadism, learning disability	1	1	LOVD
00383145	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly, learning disability	1	1	LOVD
00383146	-	PubMed: Sathya Priya-2015	-	-	-	-	-	-	-	-	-	retinal disease	obesity, polydactyly, hypogonadism, learning disability	1	1	LOVD
00383273	-	PubMed: Muller-2010, PubMed: Stoetzel 2007	-	-	-	-	North Africa	-	-	-	-	retinal disease	-	1	1	LOVD
00383320	-	PubMed: Pereiro-2010	-	M	-	Spain	white	-	-	-	-	retinal disease	night blindness, obesity,	1	1	LOVD
00383321	-	PubMed: Pereiro-2010	-	M	-	Spain	white	-	-	-	-	retinal disease	night blindness, obesity, polydactyly (feet)	1	1	LOVD
00384603	FB22: II.1	PubMed: Jaffal 2019	-	M	yes	Lebanon	-	-	-	-	-	retinal disease	Visual acuity: Only hand movement—counting finge	1	1	LOVD
00384604	FB22: II.2	PubMed: Jaffal 2019	-	F	yes	Lebanon	-	-	-	-	-	retinal disease	Visual acuity: 20/400–20/4	1	1	LOVD
00384789	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384790	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384791	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, deafness, typical facies	1	1	LOVD
00384792	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384793	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	1 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384794	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, learning disabilities, polydactyly, typical facies, hypogenitalism	1	1	LOVD
00384795	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, learning disabilities, typical facies	1	1	LOVD
00384796	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	-	1	1	LOVD
00384797	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	-	1	1	LOVD
00384798	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	2 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	-	1	1	LOVD
00384820	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies, hypogenitalism	1	1	LOVD
00384821	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384822	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	3 unaffected siblings screened	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, polydactyly, typical facies	1	1	LOVD
00384830	-	PubMed: Abu-Safieh-2012, Abu-Safieh 2010	-	-	yes	Saudi Arabia	Arab	-	-	-	-	retinal disease	obesity, mental retardation, polydactyly, typical facies, hypogenitalism	1	1	LOVD
00385184	-	PubMed: Chen-2011	-	-	-	-	Arabic	-	-	-	-	retinal disease	-	1	1	LOVD
00385223	-	PubMed: Chen-2011	-	-	-	-	Pakistani	-	-	-	-	retinal disease	-	1	1	LOVD
00385226	-	PubMed: Redin-2012	-	-	-	Reunion	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385236	-	PubMed: Redin-2012	-	-	-	Turkey	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385620	FJ042-II:6	PubMed: Xing-2014	-	-	-	-	-	-	-	-	-	retinal disease	retinitis pigmentosa, obesity, polydactyly, typical fundus of bone-spicule hyperpigmentation and attenuated arteries.	1	1	LOVD
00385968	-	PubMed: Khan-2013	Retinitis pigmentosa	F	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385969	-	PubMed: Khan-2013	Retinitis pigmentosa	F	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385970	-	PubMed: Khan-2013	Retinitis pigmentosa	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385971	-	PubMed: Khan-2013	Retinitis pigmentosa	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385972	-	PubMed: Khan-2013	Retinitis pigmentosa	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385973	-	PubMed: Khan-2013	Retinitis pigmentosa	F	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385974	-	PubMed: Khan-2013	Retinitis pigmentosa	M	yes	Pakistan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00388565	OFTALMO.046	PubMed: Dineiro 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	Non‐syndrom	2	1	LOVD
00388803	87	PubMed: Weisschuh 2020	Filing key number: 44, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00388804	88	PubMed: Weisschuh 2020	Filing key number: 44, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00388856	140	PubMed: Weisschuh 2020	Filing key number: 61, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00390829	-	PubMed: Chandrasekar-2018	These mutations segregated with the disease and the parents were heterozygous for the same	-	-	India	Indian	-	-	-	-	retinal disease	-	1	1	LOVD
00393826	-	PubMed: Liu-2020	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395614	RP-3055	PubMed: Perea-Romero 2021	-	-	-	Spain	-	-	-	-	-	retinal disease	cataract, glaucoma, rod-cone dystrophy, severe myopia, conductive hearing impairment, intellectual disability, renal atrophy, renal insufficiency	1	1	LOVD
00404107	DGU-F15	PubMed: Aldahmesh 2009	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00404115	family	PubMed: Chiang 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Israel	Bedouin	-	-	-	-	BBS	see paper; ...	1	1	Johan den Dunnen
00404117	NF-B2	PubMed: Fan 2004	3-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Canada	Newfoundland	-	-	-	-	BBS	see paper; ...	1	5	Johan den Dunnen
00404118	KK29	PubMed: Fan 2004	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	yes	Saudi Arabia	-	-	-	-	-	BBS	see paper; ...	1	2	Johan den Dunnen
00404119	AR390	PubMed: Fan 2004	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	United States	-	-	-	-	-	BBS	see paper; ...	1	1	Johan den Dunnen
00404120	PB140	PubMed: Fan 2004	3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents	F;M	-	Ireland	-	-	-	-	-	BBS	see paper; ...	1	3	Johan den Dunnen
00412546	F01_IV:2	PubMed: Maria 2016	family F01	M	yes	-	Pakistani	35y	-	-	-	retinal disease	body mass index: not determined; retinal degeneration; polydactyly; obesity: not determined; no intellectual disability; hypogonadism; renal anomalies: renal parenchymal disease; deceased due to renal failure; additional features: not available	1	1	LOVD
00412547	F01_IV:3	PubMed: Maria 2016	family F01	M	yes	-	Pakistani	-	-	-	-	retinal disease	body mass index: not determined; retinal degeneration; polydactyly; obesity: not determined; no intellectual disability; hypogonadism; renal anomalies: none; additional features: elevated liver enzymes, abnormal electrocardiogram, gynaecomastia	1	1	LOVD
00418657	-	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Johan den Dunnen
00418658	-	PubMed: Smaoui 2006	-	-	yes	Tunisia	-	-	-	-	-	BBS	-	1	1	Johan den Dunnen
00436607	2694959	Villafuerte-de la Cruz RA, et al., 2023. Submitted	-	F	yes	Mexico	Hispanic	-	-	-	None	BBS3	Obesity HP:0001513, Postaxial polydactyly HP:0100259, Intellectual disability HP:0001249, Hypogonadism HP:0000135, Acanthosis nigricans HP:0000956, Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510	1	1	Rocio Villafuerte-de la Cruz

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Global Variome shared LOVD

ARL6 (ADP-ribosylation factor-like 6)