All individuals with variants in gene ACTN2

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.

270 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
00016142	-	PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015	-	?	?	Netherlands	white	-	-	-	-	CMH	originally diagnosed with hypertrophic cardiomyopathy	1	1	Terry Vrijenhoek
00065128	SIDS050	PubMed: Neubauer 2017 Journal: Neubauer 2017	-	M	?	Switzerland	Europe	00y02m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00073728	-	Journal: Fatkin 2016	-	M	-	-	-	-	-	-	-	CMD	no family history; atrial septal defect (HP:0001631)	1	1	Johan den Dunnen
00104008	Vogelaar-167A	PubMed: Vogelaar 2017, Journal: Vogelaar 2017	54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer	-	-	-	-	-	-	-	-	cancer, gastric	diffuse-type or intestinal-type gastric cancer	1	1	Marjolijn JL Ligtenberg
00128452	223	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128479	269	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128490	288	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00163898	-	PubMed: Verhagen 2018, Journal: Verhagen 2018	-	?	-	Netherlands	-	-	-	yes	-	CMH	-	1	1	Judith Verhagen
00226223	30630173-proband-fam	PubMed: Fan 2018	3-generation family, proband and affected brother (53y), son (22y) and niece (27y). Mother (52y) had sudden cardiac death.	-	?	China	-	-	-	-	-	CMD	syncope (HP:0001279); left atrial enlargement (HP:0031295); left ventricular hypertrophy (HP:0001712); palpitations (HP:0001962); ventricular tachycardia (HP:0004756)	1	4	Jilani Jawaid
00265774	Fam1	Savarese WMS2019, O20	family	-	-	Spain	Basque	-	-	-	-	MYOP	adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles	1	1	Johan den Dunnen
00265775	Fam2	Savarese WMS2019, O20	family	-	-	Spain	Basque	-	-	-	-	MYOP	adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles	1	1	Johan den Dunnen
00265776	Fam3	Savarese WMS2019, O20	family	-	-	Spain	Basque	-	-	-	-	MYOP	adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles	1	1	Johan den Dunnen
00265777	Fam4	PubMed: Savarese	family	-	no	Sweden	-	-	-	-	-	MYOP	adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles	1	1	Johan den Dunnen
00265778	Fam5	Savarese WMS2019, O20	family, affected father/son	M	-	Spain	-	-	-	-	-	MYOP	-	1	2	Johan den Dunnen
00289764	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00289765	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295111	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295239	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00295625	P1	PubMed: Lornage 2019	-	M	no	-	-	>45y	-	-	-	MYOP	Multiple structured Core Disease (MsCD), see paper; neonatal moderate hypotonia, sucking difficulties; 2m-cardiomegaly, heart failure, ...	1	1	Marco Savarese
00295626	P2	PubMed: Lornage 2019	-	M	-	-	-	>40y	-	-	-	MYOP	see paper; neonatal and infancy unremarkable; 7y-unable to jump or run fast, ...	1	1	Marco Savarese
00295627	II,4	PubMed: Prondzynski	-	F	no	-	-	-	-	-	-	CMD1AA;CMH23	cardiomyopathy, hypertrophic, type 23 (CMH-23)	1	3	Marco Savarese
00295628	II,5	PubMed: Prondzynski	-	F	-	-	-	-	-	-	-	CMD1AA;CMH23	cardiomyopathy, hypertrophic, type 23 (CMH-23)	1	1	Marco Savarese
00295629	III,4	PubMed: Prondzynski	-	M	-	-	-	-	-	-	-	CMD1AA;CMH23	cardiomyopathy, hypertrophic, type 23 (CMH-23)	1	1	Marco Savarese
00295869	PatII2	PubMed: Good 2020	3-generation family, 4 affected (3F, M)	F	-	-	-	-	-	-	-	CMD	see paper; ...	1	4	Marco Savarese
00296702	NCG_00017	PubMed: Haskell 2017	analysis 55 patients	M	-	United States	African American	-	-	-	-	?	dilated cardiomyopathy, heart failure	2	1	Johan den Dunnen
00316212	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316213	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316214	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316215	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316216	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316217	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316218	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316818	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316819	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00316820	-	PubMed: Walsh 2017	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317085	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317086	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317087	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317710	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317711	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317712	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317713	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317714	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00320257	-	-	-	F	no	France	-	-	-	-	-	?	-	1	1	Marco Savarese
00320258	BON1	PubMed: Isbister 2020	-	M	-	Australia	Europe, north-west	-	-	-	-	CM	mild (13 mm) asymmetrical septal hypertrophy on echocardiogram and cardiac magnetic resonance imaging	1	1	Marco Savarese
00320259	-	-	-	M	-	Italy	-	-	-	-	-	?	-	1	1	Marco Savarese
00372034	AHM1	PubMed: Singer 2021	-	-	-	-	-	-	-	-	-	LVNC	-	1	1	Marco Savarese
00372035	III-2	PubMed: Park 2021	-	M	-	Korea	-	-	-	-	-	LVNC	-	1	1	Marco Savarese
00405037	Pat1	PubMed: Theis 2006	-	M	no	-	-	-	-	-	-	CMH	-	1	1	Marco Savarese
00413477	Pat 3	PubMed: Theis 2006	-	M	-	-	-	-	-	-	-	CMD1AA;CMH23	-	1	1	Marco Savarese
00413661	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0005110), (HP:0001678)	1	1	Johanna Ranta-aho
00413663	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0004749), (HP:0001678)	1	1	Johanna Ranta-aho
00413664	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0004763), (HP:0006699), (HP:0001678)	1	1	Johanna Ranta-aho
00413665	-	PubMed: Girolami 2014	-	F	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0004763), (HP:0006699), (HP:0011705)	1	1	Johanna Ranta-aho
00413666	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0004763), (HP:0006699)	1	1	Johanna Ranta-aho
00413667	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0001678)	1	1	Johanna Ranta-aho
00413668	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0004763)	1	1	Johanna Ranta-aho
00413669	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0004757), (HP:0001678)	1	1	Johanna Ranta-aho
00413670	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	-	1	1	Johanna Ranta-aho
00413671	-	PubMed: Girolami 2014	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0006699), (HP:0004749)	1	1	Johanna Ranta-aho
00413672	-	PubMed: Girolami 2014	-	F	?	-	-	-	-	-	-	CMD1AA;CMH23	-	1	1	Johanna Ranta-aho
00413675	-	PubMed: Lindholm 2021	-	F	likely	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0030718), (HP:0031295), (HP:0005162), (HP:0033118), (HP:0025168), (HP:0002789), (HP:0005110), (HP:0001695)	1	1	Johanna Ranta-aho
00413676	-	PubMed: Lindholm 2021	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0030682), (HP:0030718), (HP:0031295), (HP:0005110), (HP:0025168), (HP:0001722), (HP:0001279), (HP:0004755), (HP:0000822), (HP:0004757)	1	1	Johanna Ranta-aho
00413677	-	PubMed: Lindholm 2021	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0001279), (HP:0030682), (HP:0004756), (HP:0004757), (HP:0011712), (HP:0001962), (HP:0100749), (HP:0006682), (HP:0004755)	1	1	Johanna Ranta-aho
00413678	-	PubMed: Lindholm 2021	-	?	?	-	-	-	-	-	-	CMD1AA;CMH23	-	1	1	Johanna Ranta-aho
00413679	-	PubMed: Lindholm 2021	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0001962), (HP:0010872), (HP:4000004), (HP:0004755), (HP:0004749), (HP:0001722), (HP:0004756)	1	1	Johanna Ranta-aho
00413680	-	PubMed: Lindholm 2021	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0011712), (HP:0004755), (HP:0005110)	1	1	Johanna Ranta-aho
00413681	-	PubMed: Lindholm 2021	-	F	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0100749), (HP:0001962), (HP:0012378)	1	1	Johanna Ranta-aho
00413682	-	PubMed: Lindholm 2021	-	F	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0030682), (HP:0001712)	1	1	Johanna Ranta-aho
00413683	-	PubMed: Lindholm 2021	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0001279), (HP:0004756), (HP:0010872)	1	1	Johanna Ranta-aho
00413684	-	PubMed: Lindholm 2021	-	F	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0001635), (HP:0001645)	1	1	Johanna Ranta-aho
00413685	-	PubMed: Lindholm 2021	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	-	1	1	Johanna Ranta-aho
00413686	-	PubMed: Lindholm 2021	-	F	?	-	-	-	-	-	-	CMD1AA;CMH23	-	1	1	Johanna Ranta-aho
00413687	-	PubMed: Lindholm 2021	-	F	?	-	-	-	-	-	-	CMD1AA;CMH23	-	1	1	Johanna Ranta-aho
00413688	-	PubMed: Chiu 2010	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0001712)	1	1	Johanna Ranta-aho
00413689	-	PubMed: Chiu 2010	-	F	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0001712)	1	1	Johanna Ranta-aho
00413690	-	PubMed: Chiu 2010	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	(HP:0001712)	1	1	Johanna Ranta-aho
00413691	-	PubMed: Chiu 2010	-	M	?	-	-	-	-	-	-	CMD1AA;CMH23	-	1	1	Johanna Ranta-aho
00413692	-	PubMed: Chen 2021	-	M	?	-	-	-	-	-	-	MPD6	(HP:0009027), (HP:0003693), (HP:0002460), (HP:0003376)	1	1	Johanna Ranta-aho
00413693	-	PubMed: Chen 2021	-	M	?	-	-	-	-	-	-	MPD6	(HP:0009053), (HP:0008997), (HP:0009473), (HP:0002540), (HP:0008956)	1	1	Johanna Ranta-aho
00413694	-	PubMed: Chen 2021	-	F	?	-	-	-	-	-	-	MPD6	(HP:0033526), (HP:0003376)	1	1	Johanna Ranta-aho
00413832	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Marco Savarese
00413837	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Marco Savarese
00413838	-	-	-	-	-	-	-	-	-	-	-	?	complex syndromic phenotype	1	1	Marco Savarese
00413839	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413840	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413841	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413842	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413855	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413856	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413857	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413858	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413863	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413864	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413866	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Marco Savarese
00413867	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Marco Savarese
00413868	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413869	-	-	-	-	-	-	-	-	-	-	-	?	Unsolved patient with a skeletal muscle disease	1	1	Marco Savarese
00413870	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Marco Savarese
00413872	-	-	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Marco Savarese

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Global Variome shared LOVD

ACTN2 (actinin, alpha 2)