All individuals with variants in gene C9orf72

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.

69 entries on 1 page. Showing entries 1 - 69.

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
00000167	-	-	Patient suffers from Amyotrophic Lateral Sclerosis (ALS)	?	no	Spain	Spanish	-	-	-	-	FTDALS	-	1	1	Jordi Clarimon
00054802	-	PubMed: Renton 2011, Journal: Renton 2011	4-generation family, 9 affecteds	-	no	United Kingdom (Great Britain)	Welsh	-	-	-	-	FTDALS	3 ALS and 6 FTDALS cases	1	9	Johan den Dunnen
00054803	-	PubMed: Renton 2011, Journal: Renton 2011	6-generation family, 10 affecteds	-	no	Netherlands	-	-	-	-	-	FTD	8 FTD, 2 ALS cases	1	10	Johan den Dunnen
00054804	-	PubMed: Renton 2011, Journal: Renton 2011	4-generation family, 8 affecteds	-	no	Italy	-	-	-	-	-	ALS	8 ALS cases	1	8	Johan den Dunnen
00054805	-	PubMed: Renton 2011, Journal: Renton 2011	3-generation family, 5 affecteds	-	no	United States	-	-	-	-	-	ALS	5 ALS cases	1	5	Johan den Dunnen
00054806	-	PubMed: Renton 2011, Journal: Renton 2011	3-generation family, 8 affecteds	-	no	United States	-	-	-	-	-	FTDALS	5 FTDALS, 2 ALS and 1 FTD cases	1	8	Johan den Dunnen
00054807	-	PubMed: Renton 2011, Journal: Renton 2011	controls from Finland (478), USA (262), German (64), Italian (83)	-	-	-	-	-	-	-	-	Healthy/Control	-	1	887	Johan den Dunnen
00054808	-	PubMed: Chio 2012, Journal: Chio 2012	3-generation family, 4 affecteds (F, 3M)	M	no	Italy	Sardinia	46y	-	-	-	FTDALS	43y bulbar-onset ALS, FTD 1y later; died 34m after symptom onset	1	4	Johan den Dunnen
00054810	-	PubMed: Chio 2012, Journal: Chio 2012	father of patient	M	no	Italy	Sardinia	70y	-	-	-	FTDALS	64y onset ALS, behavioural FTD 2y later; died 78m after onset ALS	1	1	Johan den Dunnen
00054811	-	PubMed: Chio 2012, Journal: Chio 2012	2-generation family, 1 affected (other family members not tested)	M	no	Italy	Sardinia	>39y	-	-	-	ALS	35y proximal muscle weakness, wasting upper limbs; neurological examination diffuse hyperreflexia, neurophysiological testing chronic and active denervation, motor evoked potentials demonstrated increased central conduction time both corticospinal tracts, presentation consistent with flail arm ALS variant; no evidence of cognitive impairment; developed respiratory failure, electively tracheotomised 25m after onset ALS; alive 42m after onset ALS	1	1	Johan den Dunnen
00058676	-	PubMed: Aten 2013	3-generation family, affected grandfather and 2 grandsons, unaffected heterozygous carrier daugther	M	no	Netherlands	-	-	-	-	-	AAS;MRX16	Short stature, hypertelorism, brachydactyly, Shawl scrotum, Unguinal hernia, Joint laxity.	1	3	Johan den Dunnen
00326106	-	PubMed: van der Zee	analysis 27 expansion carriers	-	-	Belgium	-	-	-	-	-	FTD	-	1	7	Marc Cruts
00326107	-	PubMed: van der Zee	analysis 27 expansion carriers	-	-	Belgium	-	-	-	-	-	FTDALS	-	1	1	Marc Cruts
00326108	-	PubMed: van der Zee	analysis 290 non-expansion carriers	-	-	Belgium	-	-	-	-	-	FTD	-	1	3	Marc Cruts
00326109	-	PubMed: van der Zee	analysis 290 non-expansion carriers	-	-	Belgium	-	-	-	-	-	FTD	-	1	1	Marc Cruts
00326110	-	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	FTDALS	-	1	1	Marc Cruts
00326111	-	PubMed: van der Zee	analysis 752 controls	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Marc Cruts
00326112	-	PubMed: van der Zee	analysis 752 controls	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	3	Marc Cruts
00326113	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTD	-	1	1	Marc Cruts
00326114	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTD	-	1	1	Marc Cruts
00326115	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTD	-	1	6	Marc Cruts
00326116	-	PubMed: van der Zee	analysis 27 expansion carriers	-	-	Belgium	-	-	-	-	-	FTDALS	-	1	2	Marc Cruts
00326117	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTD	-	1	1	Johan den Dunnen
00326118	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTD	-	1	1	Johan den Dunnen
00326119	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTD	-	1	1	Johan den Dunnen
00326120	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTDALS	-	1	1	Johan den Dunnen
00326121	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTDALS	-	1	1	Johan den Dunnen
00326122	-	PubMed: van der Zee	analysis 57 expansion carriers	-	-	-	Europe	-	-	-	-	FTDALS	-	1	1	Johan den Dunnen
00326128	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326129	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326130	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326131	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326132	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326133	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326134	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326135	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326136	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326137	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326138	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326139	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326140	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326141	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00326142	controls	PubMed: van der Zee	-	-	-	Belgium	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00407001	C9ORF72#1	PubMed: Ozoguz 2015	3-generation family, affected father/daughter	M	-	Turkey	-	-	-	-	-	ALS	amyotrophic lateral sclerosis, fast progression; site onset limb	1	2	Johan den Dunnen
00407002	C9ORF72#2	PubMed: Ozoguz 2015	4-generation family, 13 affected (6F, 7M)	F	-	Turkey	-	-	-	-	-	ALS	amyotrophic lateral sclerosis	1	13	Johan den Dunnen
00407003	C9ORF72#3	PubMed: Ozoguz 2015	6-generation family, 4 affected (2F, 2M)	M	-	Turkey	-	-	-	-	-	ALS	site onset bulbar	1	4	Johan den Dunnen
00407004	C9ORF72#4	PubMed: Ozoguz 2015	-	M	-	Turkey	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407005	C9ORF72#5	PubMed: Ozoguz 2015	-	M	-	Turkey	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407006	C9ORF72#6	PubMed: Ozoguz 2015	-	M	-	Turkey	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407007	C9ORF72#7	PubMed: Ozoguz 2015	-	F	-	Turkey	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407008	C9ORF72#8	PubMed: Ozoguz 2015	-	F	-	Turkey	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407009	C9ORF72#9	PubMed: Ozoguz 2015	-	F	-	Turkey	-	-	-	-	-	ALS	amyotrophic lateral sclerosis, frontotemporal dementia; site onset limb	1	2	Johan den Dunnen
00407010	C9ORF72#10	PubMed: Ozoguz 2015	-	M	-	Turkey	-	-	-	-	-	ALS	amyotrophic lateral sclerosis, dementia;site onset limb	1	3	Johan den Dunnen
00407011	C9ORF72#11	PubMed: Ozoguz 2015	-	F	-	Turkey	-	-	-	-	-	ALS	site onset bulbar	1	1	Johan den Dunnen
00407012	C9ORF72#12	PubMed: Ozoguz 2015	-	M	-	Turkey	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407013	C9ORF72#13	PubMed: Ozoguz 2015	-	M	-	Turkey	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407014	C9ORF72#14	PubMed: Ozoguz 2015	-	F	-	Turkey	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407015	C9ORF72#15	PubMed: Ozoguz 2015	-	M	-	Turkey	-	-	-	-	-	ALS	ALS-parkinsonism-dementia complex; site onset limb	1	1	Johan den Dunnen
00407047	C9ORF72-S1	PubMed: Jiang 2022	-	F	-	China	-	-	-	-	-	ALS	dementia, fast progression; site onset limb	1	1	Johan den Dunnen
00407048	C9ORF72-S2	PubMed: Jiang 2022	-	M	-	China	-	-	-	-	-	ALS	-	1	1	Johan den Dunnen
00407049	C9ORF72-S3	PubMed: Jiang 2022	-	M	-	China	-	-	-	-	-	ALS	-	1	1	Johan den Dunnen
00407050	C9ORF72-S4	PubMed: Jiang 2022	-	F	-	China	-	-	-	-	-	ALS	site onset limb/bulbar	1	1	Johan den Dunnen
00407051	C9ORF72-S5	PubMed: Jiang 2022	-	F	-	China	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407052	C9ORF72-S6	PubMed: Jiang 2022	-	M	-	China	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407053	C9ORF72-S7	PubMed: Jiang 2022	-	F	-	China	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407054	C9ORF72-S8	PubMed: Jiang 2022	-	M	-	China	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen
00407055	C9ORF72-S9	PubMed: Jiang 2022	-	M	-	China	-	-	-	-	-	ALS	site onset limb/bulbar	1	1	Johan den Dunnen
00407056	C9ORF72-S10	PubMed: Jiang 2022	-	M	-	China	-	-	-	-	-	ALS	dementia; site onset bulbar	1	1	Johan den Dunnen
00407057	C9ORF72-S11	PubMed: Jiang 2022	-	M	-	China	-	-	-	-	-	ALS	site onset limb	1	1	Johan den Dunnen

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How to query

Global Variome shared LOVD

C9orf72 (chromosome 9 open reading frame 72)