Global Variome shared LOVD
USH2A (Usher syndrome 2A (autosomal recessive, mild))
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curator:
David Baux
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View all diseases associated with gene USH2A
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View available phenotype columns
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View all screenings for gene USH2A
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All individuals with variants in gene USH2A
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.
5680 entries on 57 pages. Showing entries 1 - 100.
10 per page
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Legend
How to query
« First
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00000005
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000033
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000077
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00001785
-
-
-
-
-
(United States)
-
-
-
-
-
RP
-
1
1
Feng Wang
00001794
-
-
-
-
-
(United States)
-
-
-
-
-
RP
-
2
1
Feng Wang
00001811
-
-
-
-
-
(United States)
-
-
-
-
-
RP
-
2
1
Feng Wang
00002995
-
PubMed: Neveling 2013
-
-
-
-
-
-
-
-
-
?
Usher type 2
2
1
Marcel Nelen
00002999
-
PubMed: Neveling 2013
-
-
-
-
-
-
-
-
-
?, MD
congenital discant severe hearing loss
2
1
Marcel Nelen
00003028
-
PubMed: Neveling 2013
-
-
-
-
-
-
-
-
-
RP
-
2
1
Marcel Nelen
00016604
-
-
-
-
-
-
-
-
-
-
-
-
-
1
1
Christopher Watson
00052838
-
?
-
?
?
-
?
-
-
-
-
retinal disease
retinitis pigmentosa
1
1
Muhammad Ajmal
00052949
32
PubMed: Wang 2014
-
F
?
United States
-
-
-
-
-
retinal disease
retinitis pigmentosa
3
1
Muhammad Ajmal
00059054
-
Karen Avraham laboratory, Tel Aviv university, Israel, unpublished
-
-
yes
Israel
Arab
-
-
-
-
USH2A
high tone HL, no vision problems yet
1
2
Zippi Brownstein
00059161
-
PubMed: Sommen 2016
,
Journal: Sommen 2016
-
-
-
-
-
-
-
-
-
DFNB;ARNSHL
-
1
1
Manou Sommen
00059164
-
PubMed: Sommen 2016
,
Journal: Sommen 2016
-
-
-
-
-
-
-
-
-
DFNB;ARNSHL
-
1
1
Manou Sommen
00060258
-
PubMed: Behar 2014
,
Journal: Behar 2014
3-generation family, 2 affecteds (F, M), unaffected carrier parents/sibs; family segregates GJB2 and USH2A variants
F;M
no
Israel
Iraq;Jewish;Jewish-Ashkenazi
-
-
-
-
USH2A
Congenital, moderate HL; retinitis pigmentosa?
2
3
Zippi Brownstein
00074618
51ORG
PubMed: de Castro-Miró 2016
-
M
?
Spain
white
-
-
-
-
RP39
-
2
2
Marta de Castro-Miró
00077971
-
PubMed: Jinda 2014
-
M
?
Thailand
?
-
-
-
-
retinal disease
retinitis pigmentosa; At 30 years of age: Pink optic disc; generalized RPE changes without macular involvement; moderate bone spicules. Best corrected visual acuity: OD 6/6, OS 6/9.
2
1
Stéphanie Cornelis
00080017
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Mieke Wesdorp
00080021
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
1
1
Mieke Wesdorp
00080024
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
2
1
Mieke Wesdorp
00080034
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
3
1
Mieke Wesdorp
00080036
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
2
1
Mieke Wesdorp
00080043
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
2
1
Mieke Wesdorp
00080142
-
PubMed: Zazo Seco 2017
,
Journal: Zazo Seco 2017
-
-
-
-
-
-
-
-
-
deafness
-
2
1
Mieke Wesdorp
00081393
-
Kay, submitted EJHG
-
-
-
Peru
-
-
-
-
-
HD
-
1
1
Chris Kay
00100087
PKRD138;61138
PubMed: Maranha 2015
,
Journal: Maranhao 2015
,
PubMed: Li 2017
-
F
yes
Pakistan
Pakistani
-
-
-
-
retinal disease
RP, deafness
2
1
James Hejtmancik
00100088
PKRD141;61141
PubMed: Li 2017
-
F
yes
Pakistan
Pakistani
-
-
-
-
RD
-
1
1
James Hejtmancik
00100101
PKRD185;61185
PubMed: Maranha 2015
,
Journal: Maranhao 2015
,
PubMed: Li 2017
-
F
yes
Pakistan
Pakistani
-
-
-
-
retinal disease
RP, deafness
1
1
James Hejtmancik
00100103
61191
PubMed: Li 2017
-
M
yes
Pakistan
Pakistani
-
-
-
-
retinal disease
RP, deafness
1
1
James Hejtmancik
00104992
79ORG1
PubMed: de Castro-Miró 2016
-
F
no
Uganda
-
-
-
-
-
USH2A
-
2
1
Marta de Castro-Miró
00105021
73ORG1
PubMed: de Castro-Miró 2016
-
F
no
Spain
-
-
-
-
-
retinal disease
-
2
1
Marta de Castro-Miró
00105026
-
PubMed: de Castro-Miró 2014
-
F
no
Spain
-
-
-
-
-
USH2A
-
2
1
Marta de Castro-Miró
00105027
-
PubMed: de Castro-Miró 2014
-
F
yes
Spain
-
-
-
-
-
USH2A
-
1
1
Marta de Castro-Miró
00105028
-
PubMed: de Castro-Miró 2014
-
M
no
Spain
-
-
-
-
-
USH2A
-
2
1
Marta de Castro-Miró
00105029
-
PubMed: de Castro-Miró 2014
-
M
?
Spain
-
-
-
-
-
USH2A
-
1
1
Marta de Castro-Miró
00105039
-
PubMed: de Castro-Miró 2014
-
F
no
Spain
-
-
-
-
-
retinal disease
-
2
1
Marta de Castro-Miró
00105040
-
PubMed: de Castro-Miró 2014
-
F
no
Spain
-
-
-
-
-
retinal disease
-
2
1
Marta de Castro-Miró
00105041
-
PubMed: de Castro-Miró 2014
-
F
no
Spain
-
-
-
-
-
retinal disease
-
2
1
Marta de Castro-Miró
00105042
-
PubMed: de Castro-Miró 2014
-
M
no
Spain
-
-
-
-
-
retinal disease
-
2
1
Marta de Castro-Miró
00105046
39ORGrp
PubMed: de Castro-Miró 2016
-
F
-
-
-
-
-
-
-
retinal disease
-
1
1
Marta de Castro-Miró
00105212
-
PubMed: de Castro-Miró 2014
-
M
no
Reunion
-
-
-
-
-
retinal disease
-
2
1
Marta de Castro-Miró
00105213
-
PubMed: de Castro-Miró 2014
-
M
no
Spain
-
-
-
-
-
retinal disease
-
2
1
Marta de Castro-Miró
00132291
FamPatIV2
PubMed: Eisenberger 2018
4-generation family, 8 affected (4F, 4M)
M
no
Germany
white
-
-
-
-
DFNA
see paper; ...
2
8
Hanno Bolz
00143915
-
PubMed: Katagiri 2014
index patient
F
no
Japan
Japanese
-
-
-
-
retinal disease
-
2
1
Rob W.J. Collin
00144313
23591405-Pat1289
PubMed: Glöckle 2014
-
-
-
Germany
-
-
-
-
-
retinal disease
-
3
1
Johan den Dunnen
00155562
-
Sharon, submitted
-
F
yes
Israel
Druze
-
-
-
-
USH1
-
1
3
Dror Sharon
00155563
-
Sharon, submitted
-
M
yes
Israel
Jewish-Oriental
-
-
-
-
USH1
-
1
1
Dror Sharon
00155564
-
Sharon, submitted
-
F
no
Israel
Jewish-Oriental
-
-
-
-
retinal disease
-
2
4
Dror Sharon
00155565
-
Sharon, submitted
-
F
no
Israel
Jewish-Oriental
-
-
-
-
USH1
-
2
3
Dror Sharon
00155566
-
Sharon, submitted
-
F
no
Israel
Jewish-Ashkenazi
-
-
-
-
retinal disease
-
2
1
Dror Sharon
00155567
-
Sharon, submitted
-
F
no
Israel
Jewish
-
-
-
-
retinal disease
-
1
1
Dror Sharon
00155568
-
Sharon, submitted
-
M
no
Israel
Jewish-Ashkenazi
-
-
-
-
retinal disease
-
2
2
Dror Sharon
00155569
-
Sharon, submitted
-
F
no
Israel
Jewish-Ashkenazi
-
-
-
-
retinal disease
-
2
1
Dror Sharon
00155570
-
Sharon, submitted
-
M
no
Israel
Jewish-Ashkenazi
-
-
-
-
retinal disease
-
2
1
Dror Sharon
00155571
MOL0897
PubMed: Kimchi 2018
-
M
no
Israel
Jewish-Ashkenazi
-
-
-
-
retinal disease
-
1
2
Dror Sharon
00155572
-
Sharon, submitted
-
M
no
Israel
India;Jewish
-
-
-
-
retinal disease
-
2
1
Dror Sharon
00155573
-
Sharon, submitted
-
F
no
Israel
Jewish-Oriental
-
-
-
-
USH1
-
2
2
Dror Sharon
00155574
-
Sharon, submitted
-
F
yes
Israel
African-N;Jewish
-
-
-
-
USH1
-
1
4
Dror Sharon
00155575
-
Sharon, submitted
-
M
yes
Israel
African-N;Jewish
-
-
-
-
retinal disease
-
2
1
Dror Sharon
00155576
-
Sharon, submitted
-
F
no
Israel
African-N;Jewish
-
-
-
-
retinal disease
-
2
2
Dror Sharon
00155577
-
Sharon, submitted
-
F
yes
Israel
Arab-Muslim
-
-
-
-
USH1
-
1
4
Dror Sharon
00155578
-
Sharon, submitted
-
M
no
Israel
Jewish
-
-
-
-
retinal disease
-
2
1
Dror Sharon
00155579
-
Sharon, submitted
-
M
yes
Israel
Arab Christian
-
-
-
-
USH1
-
1
1
Dror Sharon
00155580
MOL1234
PubMed: Sharon 2015
,
PubMed: Beryozkin 2015
,
PubMed: Sharon 2019
family
M
yes
Israel
Arab-Muslim
-
-
-
-
retinal disease
-
2
2
Dror Sharon
00155581
-
Sharon, submitted
-
M
no
Israel
Jewish
-
-
-
-
USH1
-
2
1
Dror Sharon
00155582
-
Sharon, submitted
-
F
yes
Israel
Yemenite;Jewish
-
-
-
-
USH1
-
2
2
Dror Sharon
00155583
-
Sharon, submitted
-
M
no
Israel
African-N;Jewish
-
-
-
-
USH1
-
1
1
Dror Sharon
00155584
MOL1141
PubMed: Sharon 2019
-
M
no
Israel
Jewish-Oriental
-
-
-
-
retinal disease
-
2
1
Dror Sharon
00155585
-
Sharon, submitted
-
F
yes
Israel
Jewish-Oriental
-
-
-
-
USH1
-
1
2
Dror Sharon
00155586
-
Sharon, submitted
-
F
no
Israel
Morocco;Jewish
-
-
-
-
retinal disease
-
2
2
Dror Sharon
00155587
-
Sharon, submitted
-
F
no
Israel
Morocco;Jewish
-
-
-
-
USH1
-
1
4
Dror Sharon
00155588
-
Sharon, submitted
-
F
yes
Israel
Arab-Muslim
-
-
-
-
USH1
-
1
3
Dror Sharon
00155589
-
Sharon, submitted
-
F
yes
Israel
Jewish-Oriental
-
-
-
-
USH1
-
1
2
Dror Sharon
00155590
-
Sharon, submitted
-
M
no
Israel
Jewish
-
-
-
-
retinal disease
-
2
1
Dror Sharon
00165702
-
PubMed: Aparisi 2014
Proband
M
-
Spain
-
-
-
-
-
USH2
-
24
1
Jose Maria Millan
00165729
-
PubMed: Baux 2008
Proband
F
-
France
-
-
-
-
-
USH1
-
1
1
Anne-Françoise Roux
00166516
-
PubMed: Saihan 2011
Proband
F
-
United Kingdom (Great Britain)
-
-
-
-
-
retinal disease
-
3
1
Maria Bitner-Glindzicz
00166519
-
PubMed: Bonnet 2011
Proband
F
-
-
-
-
-
-
-
USH1
-
1
1
Anne-Françoise Roux
00166527
-
PubMed: Bonnet 2011
Proband
-
-
-
-
-
-
-
-
USH2
-
1
1
Anne-Françoise Roux
00166564
-
PubMed: Vozzi 2011
Proband
-
-
Italy
-
-
-
-
-
USH2
-
1
1
Anne-Françoise Roux
00166565
-
PubMed: Vozzi 2011
Proband
-
-
Italy
-
-
-
-
-
USH2
-
1
1
Anne-Françoise Roux
00166590
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
3
1
Maria Bitner-Glindzicz
00166591
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
14
1
Maria Bitner-Glindzicz
00166592
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
5
1
Maria Bitner-Glindzicz
00166593
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
5
1
Maria Bitner-Glindzicz
00166594
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
5
1
Maria Bitner-Glindzicz
00166595
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
2
1
Maria Bitner-Glindzicz
00166596
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
2
1
Maria Bitner-Glindzicz
00166597
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH1
-
5
1
Maria Bitner-Glindzicz
00166598
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
7
1
Maria Bitner-Glindzicz
00166599
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
4
1
Maria Bitner-Glindzicz
00166600
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH1
-
4
1
Maria Bitner-Glindzicz
00166601
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
2
1
Maria Bitner-Glindzicz
00166602
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH3
-
3
1
Maria Bitner-Glindzicz
00166603
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH3
-
1
1
Maria Bitner-Glindzicz
00166604
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
23
1
Maria Bitner-Glindzicz
00166605
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
3
1
Maria Bitner-Glindzicz
00166606
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
4
1
Maria Bitner-Glindzicz
00166607
-
PubMed: Le Quesne Stabej 2012
Proband
-
-
United Kingdom (Great Britain)
-
-
-
-
-
USH2
-
4
1
Maria Bitner-Glindzicz
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