All individuals with variants in gene NEB

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.

505 entries on 6 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000062	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00027165	-	PubMed: Yuen 2014, Journal: Yuen 2014	brother 11a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents	M	?	Sweden	-	5m	-	-	-	NEM	severe congenital nemaline myopathy; deceased (5m); polyhydramnios, arthrogryposis	1	2	Johan den Dunnen
00036312	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036313	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036314	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036315	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036316	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia; other patient: suspected hereditary myopathy (autosomal-rezessiv), Nemalinopathie	1	1	Andreas Laner
00036317	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036318	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036319	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036320	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036321	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036322	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected hereditary myopathy (autosomal-rezessiv) , Nemalinopathie	1	1	Andreas Laner
00036323	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036324	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036325	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036326	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036327	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036328	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036329	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia; MGZ #67033: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I; MGZ #42755: suspected myopathy	1	1	Andreas Laner
00036330	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036331	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036332	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia; MGZ #67033: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I; MGZ #42755: suspected myopathy	1	1	Andreas Laner
00036333	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036334	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036335	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036336	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036337	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myopathy	1	1	Andreas Laner
00036338	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036339	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ	1	1	Andreas Laner
00036340	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036341	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036342	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myopathy	1	1	Andreas Laner
00036343	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036344	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036345	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036346	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036347	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia; MGZ #67033: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I; MGZ #42755: suspected myopathy	1	1	Andreas Laner
00036348	-	-	-	-	-	Germany	-	-	-	-	-	?	MGZ #67033: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I; MGZ #42755: suspected myopathy	1	1	Andreas Laner
00036349	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036350	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia; other patient: suspected myopathy	1	1	Andreas Laner
00036351	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected hereditary myopathy (autosomal-rezessiv) , Nemalinopathie	1	1	Andreas Laner
00036352	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036353	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036354	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036355	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036356	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036357	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036358	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036359	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036360	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I	1	1	Andreas Laner
00036361	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected hereditary myopathy (autosomal-rezessiv) , Nemalinopathie	1	1	Andreas Laner
00036362	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I	1	1	Andreas Laner
00036363	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myopathy	1	1	Andreas Laner
00036364	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036365	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036366	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036367	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036368	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036369	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia; other patient: suspected myopathy	1	1	Andreas Laner
00036370	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia; other patient: suspected myopathy	1	1	Andreas Laner
00036371	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036372	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036373	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036374	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036375	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036376	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036377	-	-	-	-	-	Germany	-	-	-	-	-	?	polyposis	1	1	Andreas Laner
00036378	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036379	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected hereditary myopathy (autosomal-rezessiv) , Nemalinopathie	1	1	Andreas Laner
00036380	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036381	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Nemaline-Myopathie	1	1	Andreas Laner
00036382	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036383	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036384	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036385	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036386	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036387	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036388	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036389	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036390	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia; other patient: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I	1	1	Andreas Laner
00036391	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00036392	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected myasthenia	1	1	Andreas Laner
00154678	-	-	-	-	-	United States	-	<1y	-	-	-	NEM	form unknown	2	1	Tom Winder
00163746	BOS1053	Congenital fiber type disproportion with cardiomyopathy associated with variants in MYL2 and NEB Marttila, M., Al Ghamdi, F., Abdel-Hamid, H., Lacomis, D., Beggs, A. H.	-	M	no	United States	-	-	-	-	-	CMYO4A;CFTD	CFTD with ilated cardiomyopathy (HP:0001644), congenital	1	1	Minttu Marttila
00165245	FamPatIII1	PubMed: Kiiski 2019	3-generation family, affected maternal grandmother (I3), mother (II2) and son (III1)	M	-	Finland	-	-	-	-	-	NEM	see paper; ...	1	3	Vilma-Lotta Lehtokari
00207794	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0001263 (Global developmental delay)	2	1	Andreas Laner
00207800	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0003473 (Fatigable weakness)	1	1	Andreas Laner
00207960	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0006785 (Limb-girdle muscular dystrophy)	1	1	Andreas Laner
00208792	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0001324 (Muscle weakness); HP:0009027 (Foot dorsiflexor weakness); HP:0030236 (Abnormality of muscle size); HP:0007340 (Lower limb muscle weakness)	1	1	Andreas Laner
00210164	-	-	-	F	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00210177	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0040081 (Abnormal levels of creatine kinase in blood); HP:0001249 (Intellectual disability); HP:0003236 (Elevated serum creatine phosphokinase)	2	1	Andreas Laner
00210183	-	-	-	M	-	Germany	-	-	-	-	-	-	-	2	1	Andreas Laner
00216960	-	PubMed: Wallgren-Pettersson 1998	FAM28 Lehtokari 2006 (Fam1 Pelin 1999); 2 generation family, 2 affected brothers, unaffected carrier father	M	-	United Kingdom (Great Britain)	-	-	-	-	-	NEM	typical; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth	2	3	Johan den Dunnen
00216961	-	PubMed: Wallgren-Pettersson 1998	FAM31 (Fam2, 1999)	F	-	Finland	-	-	-	-	-	NEM	typical; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth	2	2	Johan den Dunnen
00216962	-	PubMed: Wallgren-Pettersson 1998	FAM3 (Fam3 1999); 2 generation family, 2 affected children, unaffected parents	-	-	France	-	-	-	-	-	NEM	severe; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth	2	2	Johan den Dunnen
00216963	-	PubMed: Wallgren-Pettersson 1998	FAM21 (Fam4, 1999), German family, Turkish descent, unaffected parents	-	yes	Turkey	-	-	-	-	-	NEM	typical; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth	2	2	Johan den Dunnen
00216964	15221447	PubMed: Anderson 2004, OMIM:var0007	2 families with 1 or more affecteds	-	-	United States	Jewish-Ashkenazi	-	-	-	-	NEM	-	2	2	Johan den Dunnen
00216965	-	PubMed: Wallgren-Pettersson 1998	FAM23 (Fam5 1999), unaffected parents	-	yes	United Kingdom (Great Britain)	-	-	-	-	-	NEM	typical: onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth	2	2	Johan den Dunnen
00216966	15221447.c	PubMed: Anderson 2004, OMIM:var0007	-	-	-	United States	Jewish-Ashkenazi	-	-	-	-	?	-	1	38	Johan den Dunnen

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6		Next ›	Last »

Global Variome shared LOVD

NEB (nebulin)