All individuals with variants in gene CHRNE

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.

259 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00035228	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035229	-	-	-	-	-	Germany	-	-	-	-	-	MEOAL;MMDS8	muscular hypotonia (aggravation with heat), mild CK-increase, path. rep. stimulation of N. accessorius bilateral,	1	1	Andreas Laner
00035230	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035231	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected CMS	1	1	Andreas Laner
00035232	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected congenital myasthenia gravis, family history positive	1	1	Andreas Laner
00035233	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035234	-	-	-	-	-	Germany	-	-	-	-	-	?	CMS	1	1	Andreas Laner
00035235	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected Kearns-Sayre syndrome, external ophthalmoplegia	1	1	Andreas Laner
00035236	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected CMS: since delivery ptosis, okulobulbäre Schwäche und intermittent double vision, brother died (similar symptoms)	1	1	Andreas Laner
00035237	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected CMS	1	1	Andreas Laner
00035238	-	-	-	-	-	Germany	-	-	-	-	-	?	bilateral ptosis, motor retardation, fatigability, status post pneumonia with respiratory insufficiency, suspected CMS	1	1	Andreas Laner
00035239	-	-	-	-	-	Germany	-	-	-	-	-	?	bilateral ptosis, motor retardation, fatigability, status post pneumonia with respiratory insufficiency, suspected CMS	1	1	Andreas Laner
00035240	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035241	-	-	-	-	-	Germany	-	-	-	-	-	?	due to infection weakness, ptosis, loss of facial expression, neurographia, Tensilontest positive.	1	1	Andreas Laner
00035242	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00035243	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected CMS with proximal myasthenia, ptosis, external ophthalmoplegia	1	1	Andreas Laner
00117924	patient 26	de Natera, 2017	-	M	no	Spain	-	-	-	-	-	CMS4A	-	1	1	Ana Topf
00152961	FamPat1	PubMed: Sine 1995	3-generation family, 5 affected (2F, 3M)	F;M	-	Germany	-	-	-	-	-	CMS	-	2	5	Johan den Dunnen
00152962	-	PubMed: Engel 1996	3-generation family, affected girl/mother/grandmother	F	-	United States	-	>30y	-	-	-	CMS	8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood	3	3	Johan den Dunnen
00152984	-	PubMed: Engel 1996	2-generation family, affected boy	M	-	United States	-	>16y	-	-	-	CMS	7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy	1	1	Johan den Dunnen
00152985	-	PubMed: Ohno 1996	3-generation family, unaffected carrier parents/son	F	-	Germany	-	-	-	-	-	CMS	-	6	1	Johan den Dunnen
00152986	-	PubMed: Ohno 1997	3-generation family, affected brother/sister	-	-	-	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00152987	-	PubMed: Ohno 1997	2-generation family, 2 affected brothers	M	-	-	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00152988	-	PubMed: Ohno 1999	2-generation family, affected brother/sister, unaffected carrier parents	M	-	Turkey	-	>12y	-	-	-	CMS	developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness	2	1	Johan den Dunnen
00152989	-	PubMed: Ohno 1999	2-generation family, affected brother/sister, unaffected carrier parents	F	-	Turkey	-	>14y	-	-	-	CMS	myasthenic symptoms; 14y normal	2	1	Johan den Dunnen
00152990	-	PubMed: Ohno 1999	unaffected carrier parents and brother	-	-	Turkey	-	-	-	-	-	-	-	1	3	Johan den Dunnen
00152994	-	PubMed: Sine 1995	-	-	-	Germany	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153037	-	PubMed: Quiram 1999	2-generation family, affected girl and younger sister and brother	F	-	-	-	>8y	-	-	-	CMS	EMG decremental response on stimulation motor nerves, partial response to cholinesterase inhibitors	1	3	Johan den Dunnen
00153041	-	PubMed: Quiram 1999	unaffected carrier mother 10562302-Pat1	F	-	-	-	-	-	-	-	-	-	1	1	Johan den Dunnen
00153063	-	PubMed: Engel 1996	3-generation family, affected girl	F	-	United States	-	>19y	-	-	-	CMS	myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli	1	1	Johan den Dunnen
00153087	-	PubMed: Ohno 1995, OMIM:var0001	-	F	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153088	-	PubMed: Gomez 1995, OMIM:var0002	-	M	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153089	-	PubMed: Ohno 1996	-	F	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153090	-	PubMed: Ohno 1996	2-generation family, affected brother/sister, unaffected carrier parents	M	-	-	-	-	-	-	-	CMS	-	4	1	Johan den Dunnen
00153091	-	PubMed: Engel 1996	-	-	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153092	-	PubMed: Ohno 1997	3-generation family, 1 affected	F	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153093	-	PubMed: Milone 1998	-	F	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153094	-	PubMed: Croxen 1998	adopted	-	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153095	-	PubMed: Ohno 1998	-	F	yes	Turkey	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153096	-	PubMed: Ohno 1998	-	F	no	Turkey	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153097	-	PubMed: Ohno 1998	-	F	yes	Turkey	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153098	-	PubMed: Ohno 1998	-	M	yes	Turkey	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153099	-	PubMed: Nichols 1999	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153100	-	PubMed: Middleton 1999	2-generation family, 1 affected	M	yes	Turkey	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153101	-	PubMed: Middleton 1999	-	-	yes	Jordan	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153102	-	PubMed: Middleton 1999	2-generation family, 4 affecteds	-	yes	Jordan	-	-	-	-	-	CMS	-	2	4	Johan den Dunnen
00153103	-	PubMed: Middleton 1999	2-generation family, 1 affected	M	yes	Turkey	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153104	-	PubMed: Wang 2000	-	M	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153105	-	PubMed: Wang 2000	-	M	-	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153106	-	PubMed: Sieb 2000	-	F	-	-	white	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153107	-	PubMed: Sieb 1997	Brother and sister affected	-	-	Italy	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00153108	-	PubMed: Slater 1997	-	M	yes	(United Kingdom (Great Britain))	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153109	-	PubMed: Slater 1997	-	M	yes	(United Kingdom (Great Britain))	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153110	-	PubMed: Croxen 2002	-	F	no	-	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153111	-	PubMed: Croxen 2002 a	-	F	yes	Bangladesh	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153112	-	PubMed: Croxen 2002 a	family with variable penetrance	F	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153113	-	PubMed: Sine 2002	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153114	-	PubMed: Sine 2002	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153115	-	PubMed: Ealing 2002	-	M	no	Netherlands	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153116	-	PubMed: Ealing 2002	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153117	-	PubMed: Ealing 2002	-	M	no	Netherlands	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153118	-	PubMed: Ealing 2002	-	-	no	Netherlands	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153119	-	PubMed: Kraner 2002	-	-	no	Switzerland	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153120	FamPat6	PubMed: Ohno 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153121	FamPat7	PubMed: Ohno 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153122	FamPat9	PubMed: Ohno 2003	-	-	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153123	-	PubMed: Beeson 2003	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153124	-	PubMed: Beeson 2003	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153125	-	PubMed: Beeson 2003	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153126	-	PubMed: Beeson 2003	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153127	-	PubMed: Beeson 2003	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153128	-	PubMed: Soltanzadeh 2005	-	-	yes	Iran	Muslim	-	-	-	-	CMS	-	2	3	Johan den Dunnen
00153129	-	PubMed: Ohno 2005	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153130	-	PubMed: Fidzianska 2005	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153131	-	PubMed: Outteryck 2009	-	F	yes	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153132	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153133	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153134	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153135	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153136	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153137	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153138	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153139	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153140	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153141	-	PubMed: Ealing 2002	-	F	no	Netherlands	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153142	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153143	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153144	FamPat8	PubMed: Ohno 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	United States	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153145	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153146	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153147	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153148	-	-	-	-	-	-	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153149	-	PubMed: Ohno 1998	-	F	no	Turkey	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153150	-	PubMed: Nichols 1999	2-generation family, affected brother/sister	F	-	United Kingdom (Great Britain)	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153151	-	PubMed: Middleton 1999	2-generation family, 2 affected sisters	F	yes	Turkey	-	-	-	-	-	CMS	-	2	2	Johan den Dunnen
00153152	-	PubMed: Croxen 2001	-	M	yes	(United Kingdom (Great Britain))	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153153	FamPat1	PubMed: Ohno 2003	2-generation family, 1 affected, unaffected heterozygous carrier mother	F	-	United States	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153155	-	PubMed: Muller 2005	-	-	-	Germany	-	-	-	-	-	CMS	-	1	1	Johan den Dunnen
00153158	-	PubMed: Richard 2007	-	F	yes	Portugal	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen
00153159	-	PubMed: Nichols 1999	2-generation family, affected brother/sister	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CMS	-	2	1	Johan den Dunnen

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Global Variome shared LOVD

CHRNE (cholinergic receptor, nicotinic, epsilon (m...))