All individuals with variants in gene USH1C

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.

245 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
00000096	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00001826	-	-	-	-	-	(United States)	-	-	0	-	-	RP	-	2	1	Feng Wang
00080823	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	0	-	-	DFNB18A	Deafness, autosomal recessive 18A (OMIM:602092)	1	1	Daniel Trujillano
00100098	PKRD176;61176	PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017	-	M	yes	Pakistan	Pakistani	-	0	-	-	retinal disease	-	1	1	James Hejtmancik
00144156	-	PubMed: Katagiri 2014	index patient	F	no	Japan	Japanese	-	0	-	-	retinal disease	-	1	1	Rob W.J. Collin
00144157	-	PubMed: Katagiri 2014	index patient	M	no	Japan	Japanese	-	0	-	-	retinal disease	-	1	1	Rob W.J. Collin
00155561	-	Sharon, submitted	-	F	no	Israel	Yemenite;Jewish	-	0	-	-	retinal disease	-	1	4	Dror Sharon
00165922	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165923	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165924	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165925	-	PubMed: Ebermann 2007	Proband	M	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165926	-	PubMed: Ebermann 2007	Proband	F	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165927	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165928	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165929	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165930	-	PubMed: Ebermann 2007	Proband	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165931	-	PubMed: Roux 2006	Proband	M	-	France	-	-	0	-	-	USH1	-	19	1	Anne-Françoise Roux
00165932	-	PubMed: Roux 2006	Proband	M	-	Guinea	-	-	0	-	-	USH1	-	26	1	Anne-Françoise Roux
00165933	-	-	Relative	F	-	Guinea	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165934	-	PubMed: Verpy 2000	Proband	-	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165935	-	PubMed: Verpy 2000	Relative	-	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165936	-	PubMed: Verpy 2000	Relative	-	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165937	-	PubMed: Verpy 2000	Relative	-	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165938	-	PubMed: Verpy 2000	Relative	-	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165939	-	PubMed: Verpy 2000	Relative	-	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165940	-	PubMed: Verpy 2000	Relative	-	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165941	-	PubMed: Verpy 2000	Relative	-	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165942	-	PubMed: Verpy 2000	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165943	-	PubMed: Verpy 2000	Relative	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165944	-	PubMed: Verpy 2000	Relative	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165945	-	PubMed: Verpy 2000	Proband	-	-	Canada	-	-	0	-	-	USH1	-	4	1	Anne-Françoise Roux
00165946	-	PubMed: Verpy 2000	Proband	-	-	Canada	-	-	0	-	-	USH1	-	4	1	Anne-Françoise Roux
00165947	-	PubMed: Verpy 2000	Proband	-	-	Canada	-	-	0	-	-	USH1	-	4	1	Anne-Françoise Roux
00165948	-	PubMed: Verpy 2000	Proband	-	-	Canada	-	-	0	-	-	USH1	-	4	1	Anne-Françoise Roux
00165949	-	PubMed: Verpy 2000	Proband	-	-	Canada	-	-	0	-	-	USH1	-	4	1	Anne-Françoise Roux
00165950	-	PubMed: Verpy 2000	Relative	-	-	Canada	-	-	0	-	-	USH1	-	4	1	Anne-Françoise Roux
00165951	-	PubMed: Verpy 2000	Proband	-	-	Canada	-	-	0	-	-	USH1	-	4	1	Anne-Françoise Roux
00165952	-	PubMed: Verpy 2000	Relative	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165953	-	PubMed: Verpy 2000	Proband	-	-	Canada	-	-	0	-	-	USH1	-	4	1	Anne-Françoise Roux
00165954	-	PubMed: Verpy 2000	Relative	-	-	Canada	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165955	-	PubMed: Verpy 2000	Proband	-	-	Canada	-	-	0	-	-	USH1	-	3	1	Anne-Françoise Roux
00165956	-	PubMed: Verpy 2000	Proband	-	-	Germany	-	-	0	-	-	USH1	-	1	1	Anne-Françoise Roux
00165957	-	PubMed: Verpy 2000	Proband	-	-	Germany	-	-	0	-	-	USH1	-	1	1	Anne-Françoise Roux
00165958	-	PubMed: Verpy 2000	Proband	-	-	Germany	-	-	0	-	-	USH1	-	1	1	Anne-Françoise Roux
00165959	-	PubMed: Verpy 2000	Proband	-	-	Germany	-	-	0	-	-	USH1	-	1	1	Anne-Françoise Roux
00165960	-	PubMed: Zwaenepoel 2001	Proband	-	-	-	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165961	-	PubMed: Zwaenepoel 2001	Proband	-	-	United States	-	-	0	-	-	USH1	-	3	1	Anne-Françoise Roux
00165962	-	PubMed: Zwaenepoel 2001	Proband	-	-	-	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165963	-	PubMed: Zwaenepoel 2001	Proband	-	-	-	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165964	-	PubMed: Zwaenepoel 2001	Proband	-	-	-	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165965	-	PubMed: Zwaenepoel 2001	Proband	-	-	-	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165966	-	PubMed: Verpy 2000	Proband	F	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165967	-	PubMed: Verpy 2000	Relative	F	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165968	-	PubMed: Verpy 2000	Relative	M	-	Lebanon	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165969	Fam1PatV1	PubMed: Bitner-Glindzicz 2000	5-generation family, 2 affected (F, M), proband	M	-	-	-	-	0	-	-	USH	-	1	2	Anne-Françoise Roux
00165970	Fam2PatIV2	PubMed: Bitner-Glindzicz 2000	4-generation family, 4 affected (2f, 2M), proband	F	-	-	-	-	0	-	-	USH	-	1	1	Anne-Françoise Roux
00165971	Fam2PatIV4	PubMed: Bitner-Glindzicz 2000	relative	M	-	-	-	-	0	-	-	USH	-	1	1	Anne-Françoise Roux
00165972	Fam3-proband	PubMed: Bitner-Glindzicz 2000	family, 3-affected sibs (2 brothers and a sister), proband	M	yes	Pakistan	-	-	0	-	-	USH1	profound congenital sensorineural deafness; 24y-retinitis pigmentosa on fundoscopy, confirmed by electroretinogram, impairment of balance, suffers from epilepsy	1	3	Anne-Françoise Roux
00165973	Fam3Pat2	PubMed: Bitner-Glindzicz 2000	relative	M	yes	Pakistan	-	-	0	-	-	USH1	profound congenital sensorineural deafness; retinitis pigmentosa, reduced responses on ERG consistent with retinal dystrophy, problems with balance	1	1	Anne-Françoise Roux
00165974	Fam	PubMed: Bitner-Glindzicz 2000	Acadian cell lines	M	yes	United States	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165975	Fam	PubMed: Bitner-Glindzicz 2000	Acadian cell lines	F	yes	United States	-	-	0	-	-	USH1	-	1	2	Anne-Françoise Roux
00165976	-	PubMed: Blaydon 2003	Proband	-	-	Greece	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165977	-	PubMed: Blaydon 2003	Proband	-	-	-	-	-	0	-	-	USH1	-	1	1	Anne-Françoise Roux
00165978	-	PubMed: Blaydon 2003	Proband	-	-	-	-	-	0	-	-	USH1	-	1	1	Anne-Françoise Roux
00165979	-	PubMed: Ouyang 2002	Proband	M	-	China	-	-	0	-	-	DFNB	-	2	1	Anne-Françoise Roux
00165980	-	PubMed: Ouyang 2002	Proband	M	-	United States	-	-	0	-	-	DFNB	-	1	1	Anne-Françoise Roux
00165981	-	PubMed: Ouyang 2002	Proband	M	-	United States	-	-	0	-	-	DFNB	-	1	1	Anne-Françoise Roux
00165982	-	PubMed: Ouyang 2002	Proband	M	-	United States	-	-	0	-	-	DFNB	-	1	1	Anne-Françoise Roux
00165983	-	PubMed: Ouyang 2005	Proband	-	-	-	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00165984	-	PubMed: Roux 2011	Proband	M	-	France	-	-	0	-	-	USH1	-	19	1	Anne-Françoise Roux
00166478	U819	PubMed: Roux 2011	Proband	M	-	France	-	-	0	-	-	USH1	-	7	1	Anne-Françoise Roux
00166479	-	PubMed: Kimberling 2010	Proband - No ophtalmologic examination	-	-	United States	-	-	0	-	-	DFNB	-	1	1	Anne-Françoise Roux
00166480	-	PubMed: Kimberling 2010	Proband - No ophtalmologic examination	-	-	United States	-	-	0	-	-	DFNB	-	1	1	Anne-Françoise Roux
00166490	-	PubMed: Aparisi 2010	Proband	M	-	Spain	-	-	0	-	-	USH1	-	3	1	Anne-Françoise Roux
00166491	-	PubMed: Aparisi 2010	Proband	M	-	Italy	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00166492	-	PubMed: Aparisi 2010	Proband - Minigene studies in Aparisi et al., 2013	F	-	Turkey	-	-	0	-	-	USH1	-	3	1	Anne-Françoise Roux
00166493	-	PubMed: Aparisi 2010	Relative	F	-	Turkey	-	-	0	-	-	USH1	-	3	1	Anne-Françoise Roux
00166494	-	PubMed: Aparisi 2010	Relative	M	-	Turkey	-	-	0	-	-	USH1	-	3	1	Anne-Françoise Roux
00166516	-	PubMed: Saihan 2011	Proband	F	-	United Kingdom (Great Britain)	-	-	0	-	-	retinal disease	-	2	1	Maria Bitner-Glindzicz
00166517	-	PubMed: Saihan 2011	Relative	M	-	United Kingdom (Great Britain)	-	-	0	-	-	retinal disease	-	2	1	Maria Bitner-Glindzicz
00166521	-	PubMed: Bonnet 2011	Proband	M	-	-	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00166522	-	PubMed: Bonnet 2011	Proband	-	-	-	-	-	0	-	-	USH1	-	2	1	Anne-Françoise Roux
00166595	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166608	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	1	1	Maria Bitner-Glindzicz
00166613	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	2	1	Maria Bitner-Glindzicz
00166623	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166635	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166640	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	3	1	Maria Bitner-Glindzicz
00166644	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166653	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166655	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH	-	1	1	Maria Bitner-Glindzicz
00166658	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH	-	1	1	Maria Bitner-Glindzicz
00166662	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	1	1	Maria Bitner-Glindzicz
00166669	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166679	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166683	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166688	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166691	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH2	-	1	1	Maria Bitner-Glindzicz
00166706	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	1	1	Maria Bitner-Glindzicz
00166710	-	PubMed: Le Quesne Stabej 2012	Proband	-	-	United Kingdom (Great Britain)	-	-	0	-	-	USH1	-	2	1	Maria Bitner-Glindzicz

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Global Variome shared LOVD

USH1C (Usher syndrome 1C (autosomal recessive, severe))