All individuals with variants in gene GATA3

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.

67 entries on 1 page. Showing entries 1 - 67.

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
00059024	-	Karen Avraham laboratory, Tel Aviv university, Israel, unpublished	-	-	no	Israel	Jewish-Ashkenazi	-	-	-	-	HDR	congenital, moderate-severe hearing loss, kidney disease	1	1	Zippi Brownstein
00132980	29100090-FamDC2	PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017	-	F	-	-	-	-	-	-	-	CAKUT	CAKUT, renal hypoplasia left; synechiae vulvae	1	1	Johan den Dunnen
00284156	-	PubMed: Al-Shibli 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284157	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284158	-	PubMed: Ferraris 2009	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284159	-	PubMed: Shim 2015	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284160	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284161	-	PubMed: Adachi 2006	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284162	-	PubMed: Saito 2009	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism	1	1	Global Variome, with Curator vacancy
00284163	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284164	-	PubMed: Bodian 2014	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00284165	-	PubMed: Chiu 2006	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism	1	1	Global Variome, with Curator vacancy
00284166	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284167	-	PubMed: Zhu 2014	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284168	-	PubMed: Kobayashi 2006, PubMed: Ferraris 2009	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284169	-	PubMed: van Beelen 2014	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284170	-	PubMed: Nanba 2013	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284171	-	PubMed: Nesbit 2004	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284172	-	PubMed: Nesbit 2004	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284173	-	PubMed: Fukami 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284174	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284175	-	PubMed: Mino 2005, PubMed: Berg 2013	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284176	-	PubMed: Fukami 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284177	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284178	-	PubMed: Hwang 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284179	-	PubMed: Nakamura 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284180	-	PubMed: Gaynor 2009	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284181	-	PubMed: Muroya 2001	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284182	-	PubMed: Fukami 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284183	-	PubMed: Zahirieh 2005	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284184	-	PubMed: Van Esch 2000, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284185	-	PubMed: Hiramatsu 2015	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284186	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284187	-	PubMed: Hwang 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284188	-	PubMed: Muroya 2001	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284189	-	PubMed: Chiu 2006	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism	1	1	Global Variome, with Curator vacancy
00284190	-	PubMed: Berliner 2013, PubMed: Moyer 2012, PubMed: Sturgeon 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284191	-	-	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284192	-	PubMed: Van Esch 2000	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284193	-	PubMed: Chenouard 2013	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284194	-	PubMed: Nakamura 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284195	-	PubMed: Nesbit 2004	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284196	-	PubMed: Mitsui 2014	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284197	-	PubMed: Nesbit 2004	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284198	-	PubMed: Ohta 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284199	-	PubMed: Moldovan 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284200	-	PubMed: Trepanier 2004, PubMed: Moyer 2014, PubMed: Nelson 2013, PubMed: Stratton 2008, PubMed: Berliner 2007, PubMed: Petrucelli 1993, PubMed: Moyer 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00284201	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284202	-	PubMed: Fukami 2011, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284203	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284204	-	PubMed: Nesbit 2004	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284205	-	-	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284206	-	PubMed: Chiu 2006	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism	1	1	Global Variome, with Curator vacancy
00284207	-	PubMed: Nesbit 2004	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284208	-	PubMed: Nakamura 2011	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284209	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284210	-	PubMed: Muroya 2001, PubMed: Sun 2009	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284211	-	PubMed: Bodian 2014	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00284212	-	PubMed: Muroya 2010	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00284213	-	PubMed: Ali 2007	-	-	-	-	-	-	-	-	-	deafness	hypoparathyroidism; renal dysplasia	1	1	Global Variome, with Curator vacancy
00316079	K101	PubMed: Heidet 2017	affected patient and 1st degree relative (deafness)	-	-	France	-	-	-	-	-	CAKUT	unilateral kidney agenesis; ear tag, external ear canal stenosis	1	2	Johan den Dunnen
00316115	K167	PubMed: Heidet 2017	-	-	-	France	-	-	-	-	-	CAKUT	unilateral kidney agenesis; deafness, intellectual disability	1	1	Johan den Dunnen
00316158	K48	PubMed: Heidet 2017	fetus	-	-	France	-	-	-	-	-	CAKUT	renal hypoplasia; renal dysplasia; cysts	1	1	Johan den Dunnen
00435323	8300	-	-	F	no	Egypt	-	-	-	-	-	HDR	hypoparathyroidism sensorineural deafness renal dysplasia	1	1	Manuel Lemos
00443817	Pat637	PubMed: Imafidon 2021	prenatal indication abnormal ultrasound	F	-	Netherlands	-	-	-	-	-	?	hydrocolpos, hyperechogenic kidneys with cysts in the renal pyramids, dysmorphic features	1	1	Johan den Dunnen
00465471	-	PubMed: Lin 2015, PubMed: Wu 2019	analysis 1291 cases hearing loss	-	-	Taiwan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00465472	-	PubMed: Wu 2019	analysis 1291 cases hearing loss	-	-	Taiwan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

GATA3 (GATA binding protein 3)