All individuals with variants in gene MYH14

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.

82 entries on 1 page. Showing entries 1 - 82.

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
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00059151	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	2	1	Manou Sommen
00059152	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00059153	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00080013	-	PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Mieke Wesdorp
00081425	-	-	-	-	-	Korea	-	-	-	-	-	HL	-	2	1	Bong Jik Kim
00207585	-	-	-	M	no	France	-	33y	-	-	-	CMT	sensori-motor demyelinating neuropathy and severe auditory neuropathy	1	1	Justine Lerat
00269341	-	-	-	M	-	-	-	-	-	-	-	?	Abnormality of central motor function (HP:0011442); Abnormality of muscle morphology (HP:0011805); Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638); Tetraparesis (HP:0002273); Myofibrillar myopathy (HP:0003715)	1	1	Andreas Laner
00285298	-	PubMed: Donaudy 2004, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285299	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285300	-	PubMed: Shearer 1993, PubMed: Yang 2005	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285301	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285302	-	PubMed: Qing 2014	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285303	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285304	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285305	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285306	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285307	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285308	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285309	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285310	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285311	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285312	-	PubMed: Yuen 2015	-	-	-	-	-	-	-	-	-	autism	-	1	1	Global Variome, with Curator vacancy
00285313	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285314	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285315	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285316	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285317	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285318	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285319	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285320	-	PubMed: Kim 2005, PubMed: Shearer 1993, PubMed: Donaudy 2004	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285321	-	PubMed: Miyagawa 2013	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285322	-	PubMed: Qing 2014	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285323	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285324	-	PubMed: Choi 2011	-	-	-	-	-	-	-	-	-	HL	peripheral neuropathy, myopathy	1	1	Global Variome, with Curator vacancy
00285325	-	PubMed: Donaudy 2004, PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00285326	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285327	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285328	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285329	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285330	-	PubMed: Shearer 1993	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285331	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285332	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285333	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285334	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285335	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285336	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285337	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285338	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285339	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285340	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285341	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285342	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285343	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285344	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285345	-	PubMed: Miyagawa 2013	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00285346	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285347	-	PubMed: Vona 2014	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285348	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285349	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285350	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285351	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285352	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285353	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285354	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285355	-	PubMed: Zhang 1998, PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00285356	-	PubMed: Shearer 2010	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00285357	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00287377	-	-	-	F	?	Belgium	-	20y	-	-	-	LGMD	psoas weakness, pelvic girdle weakness, tibialis anterior weakness, easy fatigability	1	1	Alicia Alonso-Jiménez
00292183	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00292184	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	26	Mohammed Faruq
00292185	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	6	Mohammed Faruq
00292186	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	20	Mohammed Faruq
00309872	HL026	PubMed: Roman 2020, Journal: Roman 2020	new-born screening	-	-	United States	-	-	-	-	-	HL	see paper; ...	1	1	Johan den Dunnen
00314370	-	PubMed: Topf 2020	analysis 1001 patients with unexplained limb-girdle weakness	-	-	-	-	-	-	-	-	LGMD	-	1	1	Johan den Dunnen
00327011	SB296-595	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	DFNA1	-	1	1	So Young Kim
00362254	Pat44	PubMed: Bahena 2021	-	F	no	Iran	-	-	-	-	-	USH	Bilateral moderate high-frequency hearing loss, severely reduced visual acuity, photophobia, nyctalopia, severe macular atrophy, diffuse pigmentary changes, and mottling with notable diminished central macular thickness	1	1	Barbara Vona
00408948	XII	PubMed: Lerat-2019	-	M	-	France	French	-	-	-	-	retinal disease	tomacular neuropathy, severe auditory neuropathy hearing loss	1	1	LOVD
00414350	WHP17	PubMed: Sun 2018	-	M	-	China	-	-	-	-	-	?	Charcot-Marie-Tooth disease;Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	1	1	LOVD
00428670	Fam28	PubMed: Wonkam 2022	3-generation family, 3 affected sisters	F	no	Ghana	Africa	-	-	-	-	DFNA4A	-	1	2	Yacouba Dia
00441491	33016	PubMed: Boucher 2020	family, 2 affected	-	-	France	-	-	-	-	-	HL	-	1	2	Johan den Dunnen
00441521	3920	PubMed: Boucher 2020	-	-	-	France	-	-	-	-	-	HL	-	1	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

MYH14 (myosin, heavy chain 14, non-muscle)