All individuals with variants in gene RYR2

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.

316 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		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
00016146	-	-	-	?	?	Netherlands	white	-	-	-	-	CMH	originally diagnosed with hypertrophic cardiomyopathy	1	1	Terry Vrijenhoek
00028981	-	PubMed: Allegue 2015, Journal: Allegue 2015	-	F	-	Spain	European	>48y	-	-	-	BRGDA	-	1	1	Anna Iglesias
00028993	-	PubMed: Allegue 2015, Journal: Allegue 2015	-	M	-	United States	white	>46y	-	-	-	BRGDA	-	1	1	Anna Iglesias
00043779	-	PubMed: Hertz 2015, Journal: Hertz 2015	-	F	?	Denmark	Denmark	00y01m	-	-	-	SIDS	-	1	1	Christin Hertz
00043781	-	PubMed: Hertz 2015, Journal: Hertz 2015	-	M	?	Denmark	Denmark	00y01m	-	-	-	SIDS	-	1	1	Christin Hertz
00043785	-	PubMed: Hertz 2015, Journal: Hertz 2015	-	F	?	Denmark	Denmark	00y01m	-	-	-	SIDS	-	1	1	Christin Hertz
00058463	-	PubMed: van Spaendonck-Zwarts 2014	4-generation family, 3 affecteds	-	no	Netherlands	-	-	-	-	-	PPCM	see paper	1	3	Johan den Dunnen
00064101	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064105	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064127	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064142	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064153	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064154	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064155	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064196	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064200	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	2	1	Johan den Dunnen
00064206	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064226	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	2	1	Johan den Dunnen
00064702	-	-	-	F	-	Denmark	-	01y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00064704	-	-	-	F	-	Denmark	-	11y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00064713	-	-	-	M	-	Denmark	-	37y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00064715	-	-	-	M	-	Denmark	-	41y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00065151	SIDS172	PubMed: Neubauer 2017 Journal: Neubauer 2017	-	M	?	Switzerland	Europe	00y08m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00101861	-?	PubMed: Bhuiyan 2007	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101862	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101863	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101864	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101865	16084945-?	PubMed: d'Amati 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101866	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101867	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101868	15466642-?	PubMed: Choi 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101869	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101870	16517285-?	PubMed: Hsueh 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101871	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101872	16084945-?	PubMed: D'Amati 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Catecholaminergic Ventricular Tachycardia and Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101873	15466642-?	PubMed: Choi 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	SCD associated with drowning	1	1	Johan den Dunnen
00101874	16818210-?	PubMed: Tester 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	SCD associated with drowning	1	1	Johan den Dunnen
00101875	16517285-?	PubMed: Hsueh 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101876	11159936-?	PubMed: Tiso 2001	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Arrhythmogenic Right Ventricular Dysplasia, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined	1	1	Johan den Dunnen
00101877	16188589-?	PubMed: Tester 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Arrhythmogenic Right Ventricular Dysplasia, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined	1	1	Johan den Dunnen
00101878	20106799-?	PubMed: Haugaa 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Arrhythmogenic Right Ventricular Dysplasia, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined	1	1	Johan den Dunnen
00101879	16818210-?	PubMed: Tester 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101880	19926015-?	PubMed: Davis 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101881	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101882	19926015-?	PubMed: Jones 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101883	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101884	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101885	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101886	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00101887	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101888	16188589-?	PubMed: Tester 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101889	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101890	15466642-?	PubMed: Choi 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined	1	1	Johan den Dunnen
00101891	16188589-?	PubMed: Tester 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined	1	1	Johan den Dunnen
00101892	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101893	16436635-?	PubMed: Creigthon 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Idiopathic Ventricular Fibrillation induced by emotion or exercise	1	1	Johan den Dunnen
00101894	15466642-?	PubMed: Choi 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined	1	1	Johan den Dunnen
00101895	16188589-?	PubMed: Tester 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	SCD associated with drowning, Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined	1	1	Johan den Dunnen
00101896	12106942-?	PubMed: Bauce 2002	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	ARVD2;ARVC2	Arrhythmogenic Right Ventricular Dysplasia type 2	1	1	Johan den Dunnen
00101897	15544015-?	PubMed: Tester 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	ARVD2;ARVC2	Arrhythmogenic Right Ventricular Dysplasia type 2	1	1	Johan den Dunnen
00101898	17062961-?	PubMed: Nishio 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	ARVD2;ARVC2	Arrhythmogenic Right Ventricular Dysplasia type 2	1	1	Johan den Dunnen
00101899	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101900	11159936-?	PubMed: Tiso 2001	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	ARVD2;ARVC2	Arrhythmogenic Right Ventricular Dysplasia type 2	1	1	Johan den Dunnen
00101901	16188589-?	PubMed: Tester 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Syncope of Unknown origin; Clinical phenotype associated with this mutation has not been clearly outlined	1	1	Johan den Dunnen
00101902	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00101903	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101904	19781797-?	PubMed: Marjamaa 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101905	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101906	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101907	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101908	19781797-?	PubMed: Marjamaa 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101909	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101910	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00101911	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101912	16272262-?	PubMed: Postma 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101913	16272262-?	PubMed: Postma 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101914	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101915	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101916	19926015-?	PubMed: Milting 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Arrhythmogenic Right Ventricular Cardiomiopathy, Found in ARVC patients as compound heterozygosity with G1882S	1	1	Johan den Dunnen
00101917	16769042-?	PubMed: Milting 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Arrhythmogenic Right Ventricular Cardiomiopathy, Found in ARVC patients as compound heterozygosity with G1882S	1	1	Johan den Dunnen
00101918	19781797-?	PubMed: Marjamaa 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Idiopathic Ventricular Fibrillation (age 41 years)	1	1	Johan den Dunnen
00101919	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101920	19926015-?	PubMed: Tester Heart Rhythm 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101921	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101922	19926015-?	PubMed: Tester Heart Rhythm 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101923	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101924	19781797-?	PubMed: Marjamaa 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101925	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101926	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00101927	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101928	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00101929	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101930	11208676-?	PubMed: Priori 2001	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Catecholaminergic Ventricular Tachycardia, Idiopathic Ventricular Fibrillation	1	1	Johan den Dunnen
00101931	15544015-?	PubMed: Tester 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	?	Catecholaminergic Ventricular Tachycardia, Idiopathic Ventricular Fibrillation	1	1	Johan den Dunnen
00101932	11208676-?	PubMed: Priori 2001	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101933	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101934	16272262-?	PubMed: Postma 2005	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101935	17556193-?	PubMed: Tester 2007	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen
00101936	19926015-?	PubMed: Medeiros-Domingo 2009	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	CPVT1	Catecholaminergic Ventricular Tachycardia	1	1	Johan den Dunnen

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Global Variome shared LOVD

RYR2 (ryanodine receptor 2 (cardiac))