All individuals with variants in gene MITF

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.

91 entries on 1 page. Showing entries 1 - 91.

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
00059055	-	Karen Avraham laboratory, Tel Aviv university, Israel, unpublished	-	-	no	Israel	Morocco;Jewish	-	-	-	-	WARBM2	congenital, profound HL, Waardenburg II	1	3	Zippi Brownstein
00080010	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Mieke Wesdorp
00100317	-	PubMed: George 2016, Journal: George 2016	2-generation family, 4 affecteds, mixed phenotype, PatII3	M	no	United States	-	-	-	-	-	COMMAD	see paper; ..., colobomatous microphthalmia, microcornea with pannus, dense bilateral cataracts, translucent irides, profound congenital sensorineural hearing loss, lack visible pigment hair/skin/eyes, microphthalmia on prenatal ultrasound, macrocephaly	2	4	Johan den Dunnen
00100318	-	PubMed: George 2016, Journal: George 2016	father I2 and brother II2	M	no	United States	-	-	-	-	-	?	see paper; ..., congenital sensorineural hearing loss, blue irides, fair skin, premature graying hair (third or fourth decade), no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata	1	2	Johan den Dunnen
00100319	-	PubMed: George 2016, Journal: George 2016	mother I1	F	no	United States	-	-	-	-	-	?	see paper; ..., congenital sensorineural hearing loss, blue irides, fair skin, no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata	1	1	Johan den Dunnen
00100320	-	PubMed: George 2016, Journal: George 2016	2-generation family, 6 affecteds, mixed phenotype, patient II4	F	no	United States	-	-	-	-	-	COMMAD	see paper; ..., born with severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment hair/skin/eyes; relative macrocephaly, short stature, low weight	2	6	Johan den Dunnen
00100321	-	PubMed: George 2016, Journal: George 2016	-	F	no	United States	-	-	-	-	-	?	see paper; ..., congenital sensorineural hearing loss, premature graying, blue irides, fair skin, no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata	1	1	Johan den Dunnen
00100322	-	PubMed: George 2016, Journal: George 2016	patients I2, II1, II2, II3 (2F, 2M)	F;M	no	United States	-	-	-	-	-	?	see paper; ..., congenital sensorineural hearing loss, premature graying, blue irides,fair skin, no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata	1	4	Johan den Dunnen
00275552	-	-	-	F	no	Argentina	white	>33y	-	-	cochlear implant	deafness	cochlear implanted congenital profound deafness	1	1	Viviana Karina Dalamón
00282364	-	PubMed: Chen 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282370	-	PubMed: Chassaing 2016	-	-	-	-	-	-	-	-	-	?	psychomotor delay	1	1	Global Variome, with Curator vacancy
00282371	-	PubMed: Tassabehji 1994, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282373	-	PubMed: Chen 2010, PubMed: Zhang 2012	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282375	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00282376	-	PubMed: Smith 2000, PubMed: TIETZ 1963, PubMed: Grill 2013	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00282377	-	PubMed: Pingault 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282379	-	PubMed: Grill 2013	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00282384	-	PubMed: Chen 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282385	-	PubMed: Feng 2007, PubMed: Zhang 2012	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282387	-	PubMed: Lautenschlager 1996	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282388	-	PubMed: Pingault 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282389	-	PubMed: Pingault 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282394	-	PubMed: Nobukuni 1996, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282399	-	PubMed: Tassabehji 1995, PubMed: Takeda 2000, PubMed: Grill 2013	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282401	-	PubMed: Hampel 2015, PubMed: Yokoyama 2011, PubMed: Bertolotto 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00282402	-	PubMed: Hatvani 2014	-	-	-	-	-	-	-	-	-	melanoma	-	1	1	Global Variome, with Curator vacancy
00283387	-	PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	PBD	-	1	1	Global Variome, with Curator vacancy
00315568	-	PubMed: Tassabehji 1994	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315569	-	PubMed: Tassabehji 1995	-	-	-	Australia	south	-	-	-	-	WS	-	1	1	Veronique Pingault
00315570	-	PubMed: Pingault 2010	-	M	-	-	-	-	-	-	-	WS	osteochondromas	1	1	Veronique Pingault
00315571	-	PubMed: Tassabehji 1994	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315572	-	PubMed: Monma 2008	-	-	-	Japan	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315573	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315574	-	PubMed: Lautenschlager 1996	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315575	-	PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315576	-	PubMed: Smith 2000	separate branch of the family reported by Tietz	-	-	United States;Ireland	-	-	-	-	-	?	-	1	1	Veronique Pingault
00315577	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315578	-	PubMed: Chen 2008	-	-	-	China	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315579	-	PubMed: Nobukuni 1996	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315580	-	PubMed: Lalwani 1998	-	-	-	India	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315581	-	PubMed: Leger 2012, PubMed: Pingault 2010	-	F	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315582	-	PubMed: Amiel 1998, PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	?	-	1	2	Veronique Pingault
00315583	-	PubMed: Izumi 2008	-	F	-	-	-	-	-	-	-	?	-	1	1	Veronique Pingault
00315584	-	PubMed: Leger 2012, PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Veronique Pingault
00315585	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315586	-	PubMed: Pingault 2010	-	F	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315587	-	PubMed: [Haddad (2011)]	-	-	-	Lebanon	-	-	-	-	-	WS	-	1	2	Veronique Pingault
00315588	-	PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315589	-	PubMed: Read 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315590	-	PubMed: Nobukuni 1996	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315591	-	PubMed: Pingault 2010	-	-	-	Togo	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315592	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315593	-	PubMed: Morell 1997	-	-	-	-	-	-	-	-	-	WS	ocular albinism and a functionally significant polymorphism of the TYR gene	1	1	Veronique Pingault
00315594	-	PubMed: Tassabehji 1995	-	F	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315595	-	PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315596	-	PubMed: Chiang 2009	-	M	-	-	-	-	-	-	-	WS	Ocular albinism and a missense variation of the TYRP1 gene in the propositus	1	1	Veronique Pingault
00315597	-	PubMed: Chen 2010	-	-	-	China	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315598	-	PubMed: Chen 2010	-	-	-	China	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315599	-	PubMed: Chen 2010	-	-	-	China	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315600	-	PubMed: Chen 2010	-	-	-	China	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315601	-	PubMed: Chen 2010	-	-	-	China	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315602	-	PubMed: Shigemura 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Veronique Pingault
00315603	-	PubMed: Haddad 2011	-	-	-	Syria	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315604	-	PubMed: Brenner 2011	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315605	-	PubMed: Leger 2012	-	F	-	France;Italy	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315606	-	PubMed: Leger 2012	-	-	-	Viet Nam;Martinique	-	-	-	-	-	WS	freckles	1	1	Veronique Pingault
00315607	-	PubMed: Leger 2012	-	F	-	South Africa	European	-	-	-	-	WS	freckles strabismus	2	1	Veronique Pingault
00315608	-	PubMed: Leger 2012	-	-	-	Portugal	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315609	-	PubMed: Schwarzbraun 2007	-	M	-	-	-	-	-	-	-	WS	developmental delay	1	1	Veronique Pingault
00315610	-	PubMed: Milunsky 2007	-	-	-	-	-	-	-	-	-	WS	deafness, hypopigmentation, bright blue irides; mother has deafness.	1	1	Veronique Pingault
00315611	FamPatII1	PubMed: Yang 2013	2-generation family, 3 affected	M	-	China	-	-	-	-	-	WS	More extended depigmentation than his parents with a single mutation	1	3	Veronique Pingault
00315612	FamPatV3	PubMed: Yan 2011	5-generation family, 10 affected (6F, 5M), PatV3 compount heterozygous GJB2	M	-	China	-	-	-	-	-	WS	see paper;, includes brown freckles on skin sensorineural deafness, blue irides, premature graying	1	11	Veronique Pingault
00315613	-	PubMed: Wildhardt 2013	-	M	-	-	-	-	-	-	-	WS	-	2	1	Veronique Pingault
00315614	-	PubMed: Wildhardt 2013	-	M	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315615	-	PubMed: Wildhardt 2013	-	M	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315616	-	PubMed: Wildhardt 2013	-	M	-	-	-	-	-	-	-	?	-	1	1	Veronique Pingault
00315617	-	PubMed: Wildhardt 2013	-	M	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315618	-	PubMed: Grill 2013	-	F	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315619	-	PubMed: Yang 2013	-	M	-	China	-	-	-	-	-	WS	freckles. No deafness (except late onset in one family member)	1	1	Veronique Pingault
00315620	-	PubMed: Yang 2013	-	F	-	China	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315621	-	PubMed: Yang 2013	-	F	-	China	-	-	-	-	-	WS	freckles	1	1	Veronique Pingault
00315622	-	PubMed: Yang 2013	-	M	-	China	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315623	FamPatI2	PubMed: Yang 2013	father	M	-	China	-	-	-	-	-	WS	freckles	1	1	Veronique Pingault
00333431	MITF-male	-	-	M	no	Iran	-	-	-	-	-	WS2A	-	1	1	Ehsan Razmara
00380712	W9	PubMed: Batissoco 2021	-	M	no	Brazil	-	-	-	-	-	WS2A	-	1	1	Karina Lezirovitz Mandelbaum
00381103	-	PubMed: Batissoco 2021	-	M	no	Brazil	-	-	-	-	-	WS2A	Bilateral profound SHL (cochlear implanted - different service), iris heterochromia and blonde hair backlock	1	2	Karina Lezirovitz Mandelbaum
00381104	-	PubMed: Batissoco 2021	-	M	no	Brazil	-	-	-	-	-	WS2A	blonde hair lock behind the ear, normal hearing	1	1	Karina Lezirovitz Mandelbaum
00381532	-	PubMed: Batissoco 2021	-	M	no	Brazil	-	-	-	-	-	WS2A	profound sensorineural hearing loss, Hypoplastic irides at birth that turned out into partial heterochromia irides after few months	1	1	Karina Lezirovitz Mandelbaum
00385880	V.2	PubMed: Birtel 2020	2nd son of IV:3 and IV:4	M	-	(Germany)	white	-	-	-	-	retinal disease	-	1	1	LOVD
00415811	S-7	-	-	M	yes	China	Chinese	-	-	-	-	WS2A	-	1	2	Jian Song
00429480	MINAS_01	-	-	M	?	Brazil	-	-	-	-	-	MINAS	HP:0012034	1	1	Giovana Torrezan

Legend

How to query

Global Variome shared LOVD

MITF (microphthalmia-associated transcription factor)