All individuals with variants in gene HGF

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.

87 entries on 1 page. Showing entries 1 - 87.

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
00283428	-	PubMed: Finegold 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283429	-	PubMed: Finegold 2008, PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283430	-	PubMed: Finegold 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283431	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283432	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283433	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283434	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283435	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283436	-	PubMed: Finegold 2008	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283437	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283438	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283439	-	PubMed: Schultz 2009, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00294503	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294504	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	59	Mohammed Faruq
00401635	PK-DB-OKA-01PatIV24	PubMed: Mei 2021	6-generation family, 22 affected (8F, 14M), unaffected heterozygous carrier parents; family seggregates different pathogenic variant in 5 males	F	yes	Pakistan	Okara	-	-	-	-	deafness	bilateral profound hearing loss	1	17	LOVD
00401636	PK-DB-OKA-01PatIII10/IV5/6	PubMed: Mei 2021	5 males seggregating POU3F4 variant	M	yes	Pakistan	Okara	-	-	-	-	deafness	hearing loss	1	5	LOVD
00428328	PKDF002	PubMed: Schultz 2009	4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives	F;M	-	Pakistan	-	-	-	-	-	DFNB	-	1	5	Johan den Dunnen
00428329	PKDF084	PubMed: Schultz 2009	6-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives	F;M	-	Pakistan	-	-	-	-	-	DFNB	-	1	6	Johan den Dunnen
00428330	PKDF121	PubMed: Schultz 2009	9-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	5	Johan den Dunnen
00428331	PKDF157	PubMed: Schultz 2009	6-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	5	Johan den Dunnen
00428332	PKDF204	PubMed: Schultz 2009	7-generation family, 20 affected (6F, 14M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	20	Johan den Dunnen
00428333	PKDF239	PubMed: Schultz 2009	5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives	-	yes	Pakistan	-	-	-	-	-	DFNB	-	1	6	Johan den Dunnen
00428334	PKDF351	PubMed: Schultz 2009	7-generation family, 4 affected (4F), unaffected heterozygous carrier parents/relatives	-	yes	Pakistan	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428335	PKDF352	PubMed: Schultz 2009	6-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428336	PKDF402	PubMed: Schultz 2009	4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	5	Johan den Dunnen
00428337	PKDF711	PubMed: Schultz 2009	7-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives	F;M	-	Pakistan	-	-	-	-	-	DFNB	-	1	6	Johan den Dunnen
00428338	PKDF841	PubMed: Schultz 2009	5-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	6	Johan den Dunnen
00428339	PKDF847	PubMed: Schultz 2009	4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	3	Johan den Dunnen
00428340	PKDF879	PubMed: Schultz 2009	5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428341	PKDF1113	PubMed: Schultz 2009	4-generation family, 13 affected (4F, 9M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	13	Johan den Dunnen
00428342	PKSR36	PubMed: Schultz 2009	4-generation family, 2 affected brothers (2M), unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	DFNB	-	3	2	Johan den Dunnen
00428343	PKSR53	PubMed: Schultz 2009	5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	3	Johan den Dunnen
00428344	PKSR2	PubMed: Schultz 2009	4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	5	Johan den Dunnen
00428345	IDM13	PubMed: Schultz 2009	5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	India	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428346	Kla2	PubMed: Schultz 2009	4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	India	-	-	-	-	-	DFNB	-	1	3	Johan den Dunnen
00428347	DEM4011	PubMed: Schultz 2009	family	-	-	Pakistan	-	-	-	-	-	DFNB	-	1	1	Johan den Dunnen
00428348	DEM4017A	PubMed: Schultz 2009	6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	3	Johan den Dunnen
00428349	DEM4018	PubMed: Schultz 2009	6-generation family, 7 affected (2F, 5M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	7	Johan den Dunnen
00428350	DEM4048	PubMed: Schultz 2009	6-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	3	Johan den Dunnen
00428351	DEM4050	PubMed: Schultz 2009	2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives	F;M	-	Pakistan	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428352	DEM4058	PubMed: Schultz 2009	5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	6	Johan den Dunnen
00428353	DEM4071	PubMed: Schultz 2009	7-generation family, 13 affected (8F, 5M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	13	Johan den Dunnen
00428354	DEM4142	PubMed: Schultz 2009	4-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	6	Johan den Dunnen
00428355	DEM4174	PubMed: Schultz 2009	5-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	6	Johan den Dunnen
00428356	DEM4199	PubMed: Schultz 2009	5-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	6	Johan den Dunnen
00428357	DEM4201	PubMed: Schultz 2009	4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	5	Johan den Dunnen
00428358	DEM4212	PubMed: Schultz 2009	5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428359	DEM4320	PubMed: Schultz 2009	4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	2	Johan den Dunnen
00428360	DEM4332	PubMed: Schultz 2009	4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	2	Johan den Dunnen
00428361	DEM4333A	PubMed: Schultz 2009	4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	1	Johan den Dunnen
00428362	DEM4333B	PubMed: Schultz 2009	4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	2	Johan den Dunnen
00428363	DEM4434	PubMed: Schultz 2009	6-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428364	DEM4443	PubMed: Schultz 2009	4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428365	DEM4467	PubMed: Schultz 2009	4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	4	Johan den Dunnen
00428366	DEM4472	PubMed: Schultz 2009	6-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives	F;M	yes	Pakistan	-	-	-	-	-	DFNB	-	1	5	Johan den Dunnen
00428367	PKDF601	PubMed: Schultz 2009	5-generation family, 5 affected (1F, 4M), unaffected heterozygous carrier parents/relatives	-	yes	Pakistan	-	-	-	-	-	DFNB	-	1	5	Johan den Dunnen
00428368	PKDF210	PubMed: Schultz 2009	5-generation family, 3 affected (1F, 4M), unaffected heterozygous carrier parents/relatives2	-	yes	Pakistan	-	-	-	-	-	DFNB	-	1	3	Johan den Dunnen
00428369	controls	PubMed: Schultz 2009	analysis 429 controls	-	-	Pakistan	-	-	-	-	-	Healthy/Control	-	1	2	Johan den Dunnen
00441250	DEM4494	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441251	DEM4521	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441252	DEM4522	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441253	DEM4562	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441254	DEM4564	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441255	DEM4586	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441256	DEM4622	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441257	DEM4628	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441258	DEM4642	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441259	DEM4665	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441260	DEM4701	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441261	DEM4865	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441262	DEM4861	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441263	DEM4880	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441264	DEM4925	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441265	DEM4943	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441266	PKDF970a	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441267	PKDF1017	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441268	PKDF1331	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441269	PKDF1579	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441270	PKDF1604	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441271	PKDF1637	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441272	PKDF1668	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441273	PKDF1754	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441274	PKDF1787	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441275	PKDF1791	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441276	PKDF1775	PubMed: Richard 2019	-	-	yes	Pakistan	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441650	HLAI-18	PubMed: Schultz 2009, PubMed: Naz 2017	family, 2 affected	-	-	Pakistan	Punjab	-	-	-	-	HL	-	1	2	Johan den Dunnen
00448500	-	-	-	-	yes	Pakistan	-	-	-	-	-	DFNB39	-	1	1	Hina Khan

Legend

How to query

Global Variome shared LOVD

HGF (hepatocyte growth factor (hepapoietin A; scat...))