All individuals with variants in gene MYH7

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.

1147 entries on 12 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		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
00016143	-	PubMed: Vrijenhoek 2015, Journal: Vrijenhoek 2015	-	?	?	Netherlands	white	-	-	-	-	CMH	originally diagnosed with hypertrophic cardiomyopathy	3	1	Terry Vrijenhoek
00052406	-	-	sister has early onset distal leg weakness, both siblings also have TIA1 p.(Glu384Lys) het variant	F	no	-	Swedish, Greek	-	-	-	-	CMH	supraventricular tachycardia, distal leg weakness	1	1	Jie Liu
00058468	-	PubMed: van Spaendonck-Zwarts 2014	3-generation family, 2 affecteds	F	-	Germany	-	-	-	-	-	PPCM	1 case mild DCM	1	2	Johan den Dunnen
00064066	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064070	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064072	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064073	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064076	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064083	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064086	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064089	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064090	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064101	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064102	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064106	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064107	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064109	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064111	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064121	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064122	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064131	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064141	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064149	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	2	1	Johan den Dunnen
00064157	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064160	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064188	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064190	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064192	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064198	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064204	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064211	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064212	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064214	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064282	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064283	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064284	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064285	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064286	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00078525	-	-	-	F	no	Israel	-	-	-	-	-	MYOP	Laing distal myopathy-like phenotypes with variable expressivity and neck extensor contracture; myopathy, scapuloperoneal, MYH7-related (SPMM)	2	1	Yonatan Perez
00108628	Pat748	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	F	-	Italy	-	-	-	-	-	CMH	fam.history of hypertrophic cardiomyopathy; fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; non-sustained ventricular tachycardia, atrial fibrillation, Wolff-Parkinson-White syndrome; left ventricular wall thickness (mm) 17; left ventricular ejection fraction 0.60	1	1	Domenico Coviello
00108638	Pat898	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	F	-	Italy	-	-	-	-	-	CMH	fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; left ventricular wall thickness (mm) 11; left ventricular ejection fraction 0.70	1	1	Domenico Coviello
00108639	Pat902	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	F	-	Italy	-	-	-	-	-	CMH	no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; hypothyroidism, premature ventricular contractions, non-sustained ventricular tachycardia; left ventricular wall thickness (mm) 19; left ventricular ejection fraction 0.64	1	1	Domenico Coviello
00108641	Pat905	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	M	-	Italy	-	-	-	-	-	CMH	fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; heart transplantation	1	1	Domenico Coviello
00108649	Pat94	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	F	-	Italy	-	-	-	-	-	CMH	no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; left ventricular wall thickness (mm) 24; left ventricular ejection fraction 0.65	1	1	Domenico Coviello
00108687	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108688	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108689	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108690	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108691	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108692	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108693	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108694	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108695	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108696	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108697	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108698	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108699	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00108700	HCM	PubMed: Cecconi 2016, Journal: Cecconi 2016	-	-	-	Italy	-	-	-	-	-	CMH	-	1	1	Domenico Coviello
00128365	26	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128492	290	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00154670	-	PubMed: Olivotto 2011	-	F	-	-	-	>25y	-	-	-	CMH	-	1	1	Johan den Dunnen
00163861	-	PubMed: Verhagen 2018, Journal: Verhagen 2018	-	F	-	Netherlands	Asian	-	-	yes	septal myectomy	CMH	-	1	1	Judith Verhagen
00163879	-	PubMed: Verhagen 2018, Journal: Verhagen 2018	3-generation family, 2 affected (2M), 8 unaffected	?	-	Netherlands	white	-	-	yes	DDD pacemaker	CMH	-	1	1	Judith Verhagen
00174755	Pat18	PubMed: Fichna 2018	-	M	-	Poland	-	-	-	-	-	LGMD	onset overt symptoms early childhood; CPK raised 26x; impaired running from early childhood; progression of limb-girdle weakness and foot drop in adolescence; diffuse muscle atrophy, asymmetrical weakness - also distal weakness in upper and lower limbs; ambulation preserved	1	1	Johan den Dunnen
00174777	Pat407	PubMed: Fichna 2018	-	M	-	Poland	-	-	-	-	-	LGMD	onset overt symptoms early childhood; CPK raised 4.5x; impaired running/stair climbing from early childhood; progression of limb-girdle weakness in adolescence; scoliosis, pectus excavatum, calf hypertrophy; waddling gait	1	1	Johan den Dunnen
00180907	34	-	-	F	?	Denmark	-	23y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00207381	-	-	-	F	no	Portugal	white	>52y	-	-	-	LVNC	Left Ventricular noncompaction	1	1	André Militão
00207959	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0002355 (Difficulty walking); HP:0001324 (Muscle weakness); HP:0003198 (Myopathy); HP:0000508 (Ptosis)	1	1	Andreas Laner
00208624	-	-	-	M	-	Germany	-	-	-	-	-	-	HP:0008970 (Scapulohumeral muscular dystrophy)	1	1	Andreas Laner
00209041	28771251-Pat98	PubMed: Lionel 2018	-	M	-	Canada	-	-	-	-	-	CMD	dilated cardiomyopathy	1	1	Johan den Dunnen
00210169	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0000925 (Abnormality of the vertebral column); HP:0003198 (Myopathy); HP:0003306 (Spinal rigidity); HP:0011805 (Abnormality of muscle morphology)	1	1	Andreas Laner
00212290	12788380-FamMM	PubMed: Waldmuller 2003	3-generation family, 5 MYH7/5 MYBPC3 variant carriers; all MYH7 carriers severly affected with Age_onset <20y; 2 MYBPC3 carriers mildly affected/late Age_onset, 2 asymptomatic	-	no	India	-	-	-	-	-	CMH	-	1	5	Johan den Dunnen
00212548	10424815-Fam	PubMed: Richard 1999, PubMed: Richard 2003	5-generation family, 9 affected (5F, 4M), segregating MYBPC3 and MYH7 variant (2 individuals carrying both variants)	F;M	no	France	-	-	-	-	-	CMH	see paper; ...	1	9	Johan den Dunnen
00212549	20801532-PatAA1	PubMed: Bagnall 2010	2-generation family, unaffected carrier mother	M	-	Australia	-	>21y	-	-	-	CMH	severe	1	2	Johan den Dunnen
00212550	22286171-PatMC31379	PubMed: Purevjav 2012	sibling of JC31380	F	-	-	white	>35y	-	-	-	CMD	treatment: lesinopril and metoprolol	1	1	Julia Lopez
00212551	22286171-PatJC31380	PubMed: Purevjav 2012	sibling of JC31379	F	-	-	white	>38y	-	-	-	CMD	treatment: metoprolol	1	1	Julia Lopez
00212552	-	PubMed: Blair 2001	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212553	-	PubMed: Millat 2010	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212554	-	PubMed: Morita 2006	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00212555	-	PubMed: Rosenzweig 1991	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212556	-	PubMed: Dausse 1993	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212557	-	PubMed: Moolman-Smook 1999	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212558	-	PubMed: Moolman 1995	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212559	-	PubMed: Watkins 1995	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212560	-	PubMed: Hougs 2005	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00212561	-	PubMed: Hershberger 2008	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212562	-	PubMed: Klaassen 2008	-	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen
00212563	-	PubMed: Richard 2003	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212564	-	PubMed: Hershberger 2008	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212565	-	PubMed: Hershberger 2008	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212566	-	PubMed: Hershberger 2008	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212567	-	PubMed: Hershberger 2008	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212568	-	PubMed: Hershberger 2008	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212569	-	PubMed: Karkkainen 2004	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212570	-	PubMed: Hershberger 2008	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212571	-	PubMed: Hershberger 2008	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00212572	-	PubMed: Olivotto 2008	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212573	-	PubMed: Frisso 2009	-	-	-	-	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00212574	-	PubMed: Waldmuller 2011	-	-	-	-	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

MYH7 (myosin, heavy chain 7, cardiac muscle, beta)