All individuals with variants in gene SMN1

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.

133 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00000037	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00116707	-	PubMed: Parsons 1998	-	-	-	United States	-	-	-	-	-	SMA2	-	3	1	Johan den Dunnen
00116708	-	PubMed: Parsons 1998	2 unrelated patients	-	-	United States	-	-	-	-	-	SMA3	-	3	2	Johan den Dunnen
00116709	-	-	-	F	no	(China)	chinese	-	-	-	-	SMA3	-	1	1	Fang Song
00116710	-	-	165 unrelated families Portugal	M	-	Portugal	-	-	-	-	-	SMA	-	2	165	Rosário dos Santos
00116711	-	PubMed: Ogino 2004	-	-	-	-	-	-	-	-	-	SMA	SMA 1, 2, 3	2	1	Johan den Dunnen
00116712	-	PubMed: Gambardella 1998	del NAIP exon 5	M	-	Italy	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116713	-	PubMed: Parsons 1998	-	-	-	United States	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116714	-	PubMed: Hahnen 1997	-	-	-	Germany	-	-	-	-	-	SMA2	-	2	1	Johan den Dunnen
00116715	-	PubMed: Hahnen 1997	-	-	-	Germany	-	-	-	-	-	SMA3	-	2	2	Johan den Dunnen
00116716	-	PubMed: Hahnen 1997	-	-	-	Australia	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116717	-	PubMed: Lefebvre 1995	-	-	-	France	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116718	-	PubMed: Lorson 1999	-	-	-	United States	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116719	-	PubMed: Sossi 2001	-	F	-	Italy	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116720	-	PubMed: Sossi 2001	-	M	-	Italy	-	-	-	-	-	SMA2	WB smaller SMN1	2	1	Johan den Dunnen
00116721	-	PubMed: Sossi 2001	-	F	-	Italy	-	-	-	-	-	SMA3	WB smaller SMN1	2	1	Johan den Dunnen
00116722	-	PubMed: Bussaglia 1995, PubMed: Cusco 2003	-	-	-	Spain	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116723	-	PubMed: Bussaglia 1995, PubMed: Cusco 2003	3 patients (1 early onset)	-	-	Spain	-	-	-	-	-	SMA2	-	2	3	Johan den Dunnen
00116724	-	PubMed: Bussaglia 1995, PubMed: Cusco 2003	8 patients (2 early onset)	-	-	Spain	-	-	-	-	-	SMA3	-	2	8	Johan den Dunnen
00116725	-	PubMed: Bussaglia 1995, PubMed: Cusco 2003	2 patients	F	-	Spain	-	-	-	-	-	SMA4	-	2	2	Johan den Dunnen
00116726	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA2	-	2	1	Johan den Dunnen
00116727	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116728	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116729	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA	SMA 1/2	2	1	Johan den Dunnen
00116730	-	PubMed: Sun 2005	-	-	-	Germany	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116731	-	PubMed: Cusco 2004	-	-	-	Spain	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116732	-	PubMed: Cusco 2004	-	-	-	Spain	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116733	-	-	-	M	-	Portugal	-	-	-	-	-	SMA	-	2	1	Rosário dos Santos
00116734	-	-	-	M	-	Portugal	-	-	-	-	-	SMA	-	2	1	Rosário dos Santos
00116735	-	-	11 unrelated patients	-	-	Portugal	-	-	-	-	-	SMA	-	2	11	Rosário dos Santos
00116736	-	PubMed: Ogino 2004	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00116737	-	PubMed: Ogino 2004	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00116738	-	PubMed: Wirth 1999	-	-	-	-	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116739	-	PubMed: Wirth 1999	-	-	-	-	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116740	-	PubMed: Tsai 2001	-	-	-	-	-	-	-	-	-	SMA	SMA 1 or 2	2	1	Johan den Dunnen
00116741	-	PubMed: Martin 2002	3 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 2, 3	2	3	Johan den Dunnen
00116742	-	Clermont 1997, PubMed: Wirth 2000	-	-	-	-	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116743	-	PubMed: Brahe 1996	-	-	-	-	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116744	-	PubMed: Wirth 1999	2 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 3	2	2	Johan den Dunnen
00116745	-	PubMed: Parsons 1998, PubMed: Parsons 1998	3 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 2, 3	2	3	Johan den Dunnen
00116746	-	PubMed: Wirth 1999	-	-	-	-	-	-	-	-	-	SMA2	-	2	1	Johan den Dunnen
00116747	-	Clermont 1997, PubMed: Wirth 2000	-	-	-	-	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116748	-	PubMed: Wirth 1999	2 unrelated cases	-	-	-	-	-	-	-	-	SMA1	-	2	2	Johan den Dunnen
00116749	-	PubMed: Tsai 2001	-	-	-	-	-	-	-	-	-	SMA	SMA 1 or 2	2	1	Johan den Dunnen
00116750	-	PubMed: Rochette 1997	-	-	-	-	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116751	-	PubMed: Martin 2002	-	-	-	-	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116752	-	Clermont 1997, PubMed: Martin 2002, PubMed: Parsons 1996, PubMed: Wirth 2000	7 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 2	2	7	Johan den Dunnen
00116753	-	PubMed: McAndrew 1997	-	-	-	-	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116754	-	PubMed: Skordis 2001	2 unrelated cases	-	-	-	-	-	-	-	-	SMA2	-	2	2	Johan den Dunnen
00116755	-	PubMed: Rochette 1997, PubMed: Wirth 2000, PubMed: Wirth 1999	8 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 1, 2, 3	2	8	Johan den Dunnen
00116756	-	PubMed: Hahnen 1997, PubMed: Parsons 1998, PubMed: Wirth 1999	2 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 2, 3	2	2	Johan den Dunnen
00116757	-	PubMed: Skordis 2001	-	-	-	-	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116758	-	PubMed: Martin 2002	-	-	-	-	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116759	-	PubMed: Lefebvre 1995, PubMed: Wirth 2000	-	-	-	-	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116760	-	PubMed: Wang 1998	2 unrelated cases	-	-	-	-	-	-	-	-	SMA	SMA 2, 3	2	2	Johan den Dunnen
00116761	-	PubMed: Talbot 1997	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116762	-	PubMed: Wirth 1999	-	-	-	-	-	-	-	-	-	SMA1	-	2	1	Johan den Dunnen
00116763	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA3	-	2	1	Johan den Dunnen
00116764	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA1	EMG nerve damage	2	1	Johan den Dunnen
00116765	-	PubMed: Bai 2014	-	F	-	China	-	-	-	-	-	SMA2	EMG nerve damage	2	1	Johan den Dunnen
00116766	-	PubMed: Bai 2014	-	F	-	China	-	-	-	-	-	SMA1	EMG nerve damage	2	1	Johan den Dunnen
00116767	-	PubMed: Bai 2014	-	F	-	China	-	-	-	-	-	SMA2	EMG nerve damage	2	1	Johan den Dunnen
00116768	-	PubMed: Bai 2014	-	F	-	China	-	-	-	-	-	SMA1	EMG nerve damage	2	1	Johan den Dunnen
00116769	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA2	EMG nerve damage	2	1	Johan den Dunnen
00116770	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA2	EMG nerve damage	2	1	Johan den Dunnen
00116771	-	PubMed: Bai 2014	-	M	-	China	-	-	-	-	-	SMA1	EMG nerve damage	2	1	Johan den Dunnen
00116772	-	PubMed: Yamamoto 2013	-	M	no	Japan	Japanese	-	-	-	-	SMA3	11y-pain/heaviness in legs during exercise; later developed symptoms including waddling gait, muscle weakness and atrophy in quadriceps, attenuated patellar tendon reflex; able to walk	2	1	Hisahide Nishio
00116773	-	PubMed: Kotani 2007, PubMed: Yamamoto 2013	-	F	-	Japan	-	-	-	-	-	SMA1	-	2	1	Hisahide Nishio
00116774	-	PubMed: Kotani 2007, PubMed: Yamamoto 2013	-	M	-	Japan	-	-	-	-	-	SMA1	-	2	1	Hisahide Nishio
00116775	-	PubMed: Yamamoto 2013	-	M	-	Japan	-	>19y	-	-	-	SMA1	referred for respiratory insufficiency and difficulties swallowing	2	1	Hisahide Nishio
00116776	-	PubMed: Yamamoto 2013	-	F	-	Japan	-	>7y	-	-	-	SMA2	first diagnosed as SMA type 2/3, sit unaided and stand while holding onto something, at 2y rapidly lost these abilities; 3y-bound to artificial ventilator (respiratory insufficiency)	2	1	Hisahide Nishio
00116777	-	PubMed: Yamamoto 2013	-	F	-	Japan	-	>19y	-	-	-	SMA3	13y-muscle weakness during swimming exercise; gradually lost running ability, could no longer run as fast as classmates in high school days	2	1	Hisahide Nishio
00116778	-	-	-	M	-	China	chinese	-	-	-	-	SMA3	-	1	1	Fang Song
00116779	-	-	-	F	-	China	Chinese	-	-	-	-	SMA3	-	1	1	Fang Song
00116780	-	-	-	M	-	China	chinese	-	-	-	-	SMA2	-	1	1	Fang Song
00116781	-	-	The proband has a heterozygous deletion of SMN1 inherited from his father. His single copy of SMN1 contains an inserted Alu element of the Yb8 family, inherited from his mother.	M	no	United Arab Emirates	-	-	-	-	-	SMA1	microcephaly, lagophthalmos, exposure keratopathy, optic disc pallor, cerebral atrophy, small optic nerves, progressive cerebral volume loss	1	2	Kathleen Vinette
00116782	-	-	-	F	-	China	chinese	<4m	-	-	-	SMA1	-	1	1	Fang Song
00116783	-	-	-	F	-	Portugal	-	-	-	-	-	SMA1	-	2	1	Rosário dos Santos
00116784	-	-	-	M	no	China	chinese	-	-	-	-	SMA1	-	1	1	Fang Song
00116785	-	PubMed: Ogino 2002	5 unrelated affecteds	-	-	-	-	-	-	-	-	Healthy/Control	-	1	5	Johan den Dunnen
00116786	-	-	-	M	-	China	chinese	-	-	-	-	SMA1	-	1	1	Fang Song
00116787	-	-	-	M	-	France	-	-	-	-	-	SMA4	type IV	1	1	Pascale Saugier-Veber
00116788	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen
00116789	-	-	-	F	-	(China)	-	-	-	-	-	SMA2	-	1	1	Fang Song
00116790	-	-	-	F	no	(China)	-	-	-	-	-	SMA1	-	1	1	Fang Song
00116791	-	-	-	M	no	(China)	-	20d	-	-	-	SMA1	-	1	1	Fang Song
00116792	-	PubMed: Wirth 2000	-	-	-	-	-	-	-	-	-	SMA2	-	1	1	Johan den Dunnen
00116793	-	PubMed: Lefebvre 1995	-	-	-	-	-	-	-	-	-	SMA2	-	1	1	Johan den Dunnen
00116794	-	PubMed: Gambardella 1998	del NAIP exon 5	M	-	Italy	-	-	-	-	-	SMA2	-	2	1	Johan den Dunnen
00116795	-	-	difference between mRNA and genomic sequence in GenBank	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00116796	24498607	PubMed: Kirwin 2013	5-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier relatives	F;M	yes	Saudi Arabia	-	-	-	-	-	SMA	see paper; ...	2	3	Johan den Dunnen
00150115	-	-	-	M	no	Spain	white	-	-	-	-	SMA2	-	1	1	Laura Alías
00150116	-	-	-	M	-	-	-	-	-	-	-	SMA1	-	1	1	Laura Alías
00150120	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	2	1	Laura Alías
00168061	-	-	-	F	no	Greece	white	00y13m	-	-	-	cancer, lung, SMA1	-	1	1	Kyriaki Kekou
00168071	-	-	-	F	-	Greece	-	-	-	-	-	SMA2	5.5y-respiratory support and gastrostomy	1	1	Kyriaki Kekou
00168072	-	-	-	M	no	Greece	-	-	-	-	-	SMA2	-	1	2	Kyriaki Kekou
00168073	-	-	-	F	no	Greece	-	-	-	-	-	SMA3	-	1	2	Kyriaki Kekou
00168074	-	-	-	M	no	Greece	-	-	-	-	-	SMA3	8y deterioration in specific muscle groups	1	1	Kyriaki Kekou
00234342	-	-	-	-	-	-	-	-	-	-	-	SMA2	-	2	1	Gemeinschaftspraxis für Humangenetik Dresden

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Global Variome shared LOVD

SMN1 (survival of motor neuron 1, telomeric)