Disease #02116 (USH2A (Usher syndrome,, type 2A (USH2A)), OMIM:276901)

Official abbreviation	USH2A
Name	Usher syndrome,, type 2A (USH2A)
OMIM ID	276901
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	202
Phenotype entries for this disease	39
Associated with 2 genes	PDZD7, USH2A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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'

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202 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00059054	-	Karen Avraham laboratory, Tel Aviv university, Israel, unpublished	-	-	yes	Israel	Arab	-	-	-	-	USH2A	high tone HL, no vision problems yet	-	USH2A	1	2	Zippi Brownstein
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?	-	GJB2, USH2A	3	3	Zippi Brownstein
00104992	79ORG1	PubMed: de Castro-Miró 2016	-	F	no	Uganda	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Marta de Castro-Miró
00105026	-	PubMed: de Castro-Miró 2014	-	F	no	Spain	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Marta de Castro-Miró
00105027	-	PubMed: de Castro-Miró 2014	-	F	yes	Spain	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Marta de Castro-Miró
00105028	-	PubMed: de Castro-Miró 2014	-	M	no	Spain	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Marta de Castro-Miró
00105029	-	PubMed: de Castro-Miró 2014	-	M	?	Spain	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Marta de Castro-Miró
00155376	-	Sharon, submitted	-	M	yes	Israel	Russia;Jewish	-	-	-	-	USH2A	-	GPR98	GPR98	1	2	Dror Sharon
00266318	-	-	-	F	-	-	-	-	-	-	-	USH2A	Congenital sensorineural hearing impairment (HP:0008527), Myopia (HP:0000545), Nyctalopia (HP:0000662), Rod cone dystrophy (HP:0000510)	-	USH2A	1	1	Omamah Jiman
00327088	SB354-692	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	USH2A	-	-	USH2A	2	1	So Young Kim
00361791	Pat19	PubMed: Bahena 2021	-	M	yes	Iran	-	-	-	-	-	USH2A	-	-	USH2A	1	2	Barbara Vona
00361792	Pat20	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	USH2A	-	USH2A	USH2A	1	2	Barbara Vona
00361793	Pat21	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Barbara Vona
00361794	Pat22	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Barbara Vona
00361795	Pat23	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	USH2A	-	-	USH2A	1	2	Barbara Vona
00361796	Pat24	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	USH2A	-	-	USH2A	1	2	Barbara Vona
00361797	Pat25	PubMed: Bahena 2021	-	M	yes	Iran	-	-	-	-	-	USH2A	-	-	USH2A	2	2	Barbara Vona
00361798	Pat26	PubMed: Bahena 2021	-	M	yes	Iran	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Barbara Vona
00386959	-	PubMed: Mansard et al, 2021	-	?	-	-	-	-	-	-	-	USH2A	-	-	PDZD7, USH2A	2	1	Anne-Françoise Roux
00386960	-	PubMed: Mansard et al, 2021	-	?	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00386962	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00386965	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00386968	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00386969	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00386970	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00386973	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00386974	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387143	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387145	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387146	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	CLRN1, USH2A	2	1	Anne-Françoise Roux
00387147	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387149	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387150	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387151	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387152	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387153	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387154	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387155	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387156	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387157	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387158	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387159	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387160	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387161	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387162	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387163	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387164	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387166	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387167	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387169	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	3	1	Anne-Françoise Roux
00387170	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH1G, USH2A	2	1	Anne-Françoise Roux
00387171	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387172	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387173	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387174	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387175	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387176	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387177	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387179	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387181	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387182	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387183	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387184	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387185	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387186	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387187	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387189	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387190	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387192	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387194	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387195	-	PubMed: Mansard et al, 2021	-	?	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387196	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387197	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387199	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387200	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387203	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387204	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387205	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387206	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	CLRN1, USH2A	2	1	Anne-Françoise Roux
00387207	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387208	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387209	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387211	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387212	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387214	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387215	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387216	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387217	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387218	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387221	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387222	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387223	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387224	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387227	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387228	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387229	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387231	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387233	-	PubMed: Mansard et al, 2021	-	M	-	-	-	-	-	-	-	USH2A	-	-	USH2A	1	1	Anne-Françoise Roux
00387234	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	USH2A	2	1	Anne-Françoise Roux
00387235	-	PubMed: Mansard et al, 2021	-	F	-	-	-	-	-	-	-	USH2A	-	-	MYO7A, USH2A	3	1	Anne-Françoise Roux

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Global Variome shared LOVD

PDZD7 (PDZ domain containing 7)