All individuals with variants in gene PKP2

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.

482 entries on 5 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5		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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	1	1	Yu Sun
00016374	-	PubMed: van Spaendonck-Zwarts 2014	4-generation family, 2 affecteds	F	no	Netherlands	-	-	-	-	-	CMD	mild DCM, 1 case peripartum cardiomyopathy	1	2	Johan den Dunnen
00028976	-	PubMed: Allegue 2015, Journal: Allegue 2015	-	F	-	Belgium	European	>47y	-	-	-	BRGDA	-	1	1	Anna Iglesias
00028978	-	PubMed: Allegue 2015, Journal: Allegue 2015	-	M	-	United States	white	>66y	-	-	-	BRGDA	-	1	1	Anna Iglesias
00028984	-	PubMed: Allegue 2015, Journal: Allegue 2015	-	M	-	Belgium	European	>74y	-	-	-	BRGDA	-	1	1	Anna Iglesias
00028987	-	PubMed: Allegue 2015, Journal: Allegue 2015	-	F	-	Belgium	European	>38y	-	-	-	BRGDA	-	1	1	Anna Iglesias
00028993	-	PubMed: Allegue 2015, Journal: Allegue 2015	-	M	-	United States	white	>46y	-	-	-	BRGDA	-	1	1	Anna Iglesias
00058467	-	PubMed: van Spaendonck-Zwarts 2014	3-generation family, 2 affecteds	F	-	Germany	-	-	-	-	-	PPCM	1 case mild DCM	1	2	Johan den Dunnen
00058469	-	PubMed: van Spaendonck-Zwarts 2014	2-generation family, 4 affecteds	F	-	South Africa	-	-	-	-	-	PPCM	2 cases mild DCM, 2 cases peripartum cardiomyopathy	1	4	Johan den Dunnen
00064032	-	PubMed: Brun 2014, Journal: Brun 2014	3-generation family, 2 affecteds (2M), 5 suspected (F, 4M)	M	-	-	-	-	-	-	-	ARVC	-	1	2	Johan den Dunnen
00064033	-	PubMed: Brun 2014, Journal: Brun 2014	3-generation family, 4 affecteds (4M), 3 suspected (2F, M)	M	-	-	-	-	-	-	-	ARVC	-	1	2	Johan den Dunnen
00064035	-	PubMed: van Tintelen 2006, PubMed: Brun 2014, Journal: Brun 2014	-	M	-	-	-	>12y	-	-	-	ARVC	-	2	1	Johan den Dunnen
00064036	-	PubMed: Brun 2014, Journal: Brun 2014	3-generation family, 4 affecteds (4M), 1 suspected (M)	M	-	-	-	-	-	-	-	ARVC	-	1	5	Johan den Dunnen
00064079	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064085	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064094	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064115	-	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	-	1	1	Johan den Dunnen
00064161	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064163	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064201	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064717	-	-	-	F	-	Denmark	-	45y	-	-	-	SUD	sudden unexplained death	1	1	Sofie Lindgren Christiansen
00064730	-	-	-	M	-	Denmark	-	38y	-	-	-	SUD	sudden unexplained death	1	1	Sofie Lindgren Christiansen
00064738	-	-	-	M	-	Denmark	-	48y	-	-	-	SUD	sudden unexplained death	1	1	Sofie Lindgren Christiansen
00064760	SIDS004	PubMed: Neubauer 2017 Journal: Neubauer 2017	-	M	?	Switzerland	Europe	00y07m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00073726	-	Journal: Fatkin 2016	-	F	-	-	-	-	-	-	-	CMD	no family hostory; ventricular septal defect (HP:0001629)	1	1	Johan den Dunnen
00073727	-	Journal: Fatkin 2016	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00100438	Fam2.II.1	-	-	M	no	Italy	European	>34y	-	no	Sotalol	ARVC, ARVD/C	-	1	1	Eva König
00100439	Fam1.III.2	-	-	M	no	Italy	European	>35y	-	no	Sotalol	ARVC, ARVD/C	-	1	1	Eva König
00101400	16415378-FamIPatII1	PubMed: Syrris 2006	2-generation family, 1 affected, non-affected carrier father	M	-	United Kingdom (Great Britain)	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	2	Johan den Dunnen
00101404	15489853-PatEPF17	PubMed: Gerull 2004	-	F	-	Germany	-	-	-	-	-	ARVD9	right ventricular involvement, positive family history	1	1	Johan den Dunnen
00101410	15489853-Pat10	PubMed: Gerull 2004	-	M	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101419	15489853-?	PubMed: Gerull 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101420	15489853-?	PubMed: Gerull 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101423	16415378-FamD	PubMed: Syrris 2006	4-generation family, 9 heterozygous carriers (7F, 2M), 3 fulfilling ARVC criteria/6 not	F;M	-	United Kingdom (Great Britain)	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	9	Johan den Dunnen
00101434	15489853-?	PubMed: Gerull 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101435	15489853-?	PubMed: Gerull 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101437	15489853-?	PubMed: Gerull 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101438	16415378-FamJ	PubMed: Syrris 2006	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101441	16415378-?	PubMed: Syrris P 2006	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	United Kingdom (Great Britain)	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101443	16876743-Fam	PubMed: Kannankeril 2006	2-generation family, 1 affected female, possibly affected heterozygous carrier sister, unaffected heterozygous carrier mother	F	-	-	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia, see paper; ...	1	3	Johan den Dunnen
00101445	15489853-?	PubMed: Gerull 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101447	15489853-?	PubMed: Gerull 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00101448	15489853-?	PubMed: Gerull 2004	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	Germany	-	-	-	-	-	ARVD9	Arrhythmogenic Right Ventricular Dysplasia	1	1	Johan den Dunnen
00128436	182	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	F	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128474	259	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128488	286	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00143769	-	-	-	M	-	-	-	-	-	-	-	ARVD/C	suspected ARVD/C	1	1	Dr. Alexandra Wey-Fabrizius
00154956	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Right ventricular cardiomyopathy (HP:0011663); Ventricular arrhythmia (HP:0004308)	1	1	IMGAG
00154959	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Right ventricular cardiomyopathy (HP:0011663); Ventricular arrhythmia (HP:0004308)	1	1	IMGAG
00163890	-	PubMed: Verhagen 2018, Journal: Verhagen 2018	3-generation family, 2 affecteds (2M), 3 unaffected (2M, 1F)	M	-	Netherlands	white	-	-	yes	-	CMH	-	1	1	Judith Verhagen
00180910	55	-	-	M	?	Denmark	-	19y	-	-	-	SUD	sudden death with arrythmogenic right ventricular cardiomyopathy (ARVC) diagnosed at autopsy	1	1	Sofie Lindgren Christiansen
00207952	-	-	-	F	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00209098	-	PubMed: Barahona-Dussault	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria negative	1	1	Paul van der Zwaag
00209190	20152563-Pat18	PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371), PubMed: Xu 2010	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive, reported to have a 'severe' phenotype	1	1	Paul van der Zwaag
00209229	20152563-Pat14	PubMed: Dalal 2009, PubMed: den Haan, PubMed: Xu 2010	Offspring has different combinations of two of these mutations. Controls were done voor DSG2 mutation only.	M	-	United States	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	2	4	Paul van der Zwaag
00209237	-	PubMed: den Haan	Digenic in one patient	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	2	Paul van der Zwaag
00209238	-	PubMed: Posch, PubMed: Yu	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209248	-	Unpublished	-	-	-	-	-	-	-	-	-	-	-	1	-	Torsten Bloch Rasmussen
00209358	20152563-Pat17	PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371), PubMed: Xu 2010	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive, severe phenotype	2	1	Paul van der Zwaag
00209414	-	PubMed: van Tintelen, PubMed: Bhuiyan	with wooly hair and mild palmoplantar keratoderma	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	2	Paul van der Zwaag
00209435	20152563-FamAPat01	PubMed: Xu 2010	2-generation family, 1 affected	M	-	-	-	-	-	-	-	ARVD/C	see paper; ARVD/C, Task Force Criteria positive, ...	1	1	Paul van der Zwaag
00209436	20152563-Pat02	PubMed: Xu 2010	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209440	-	PubMed: De Bortoli	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209441	-	PubMed: Rasmussen 2013	-	-	-	-	-	-	-	-	-	ARVC	cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)	1	-	Torsten Bloch Rasmussen
00209619	-	PubMed: van Tintelen	Found in 5/210 control alleles by A. Rampazzo (personal communication)	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209620	-	PubMed: Koopmann	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209621	-	escardio.org (ID24&id=4371:Rampazzo}, PubMed: Xu 2010	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209622	-	PubMed: Dalal 2006	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209623	-	PubMed: van Tintelen, PubMed: Bhuiyan	reported as c.144_148delCAGA	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	2	Paul van der Zwaag
00209624	-	PubMed: van Tintelen	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209625	-	Journal: Wlodarska 2008	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209626	-	Journal: Wlodarska 2008	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209627	-	PubMed: Lahtinen	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	11	Paul van der Zwaag
00209628	-	PubMed: van Tintelen	Compound heterozygote: PKP2 p.Gln62Lys and c.2489-1G>A	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209629	-	PubMed: Lahtinen	Compound heterozygote: PKP2 p.Gln62Lys and p.Asn613Lys	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	2	1	Paul van der Zwaag
00209630	-	-	from UK	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209631	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209632	-	PubMed: Wu	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209633	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209634	-	PubMed: Koopmann	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209635	-	Anastasakis (escardio.org ID19 2396), Tsatsopoulou (escardio.org ID19 2397)	4 related mutation carriers are TFC-; 2 family members had ARVC on autopsy after SCD (at age 15 and 16)	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209636	-	escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209637	-	PubMed: van Tintelen	from 5 different families	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	11	Paul van der Zwaag
00209638	-	PubMed: Dalal 2006	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209639	-	PubMed: van Tintelen	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209640	-	-	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	2	Paul van der Zwaag
00209641	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209642	-	PubMed: van Tintelen	From two different families	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	9	Paul van der Zwaag
00209643	-	PubMed: den Haan, Xu onlinejacc.org Abs 55/6/587	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209644	-	PubMed: McKoy, PubMed: Antoniades	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209645	-	PubMed: van Tintelen, PubMed: Bhuiyan	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	4	Paul van der Zwaag
00209646	-	Journal: Wlodarska 2008	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209647	-	PubMed: Sen-Chowdhry	-	-	-	-	-	-	-	-	-	CM	left-dominant arrhythmogenic cardiomyopathy	1	1	Paul van der Zwaag
00209648	-	PubMed: Koopmann	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209649	-	PubMed: Bauce, Rampazzo 2008 (escardio.org ID24 4371)	-	-	-	-	-	-	-	-	-	ARVD/C	ARVD/C, Task Force Criteria positive	1	1	Paul van der Zwaag
00209650	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209651	-	PubMed: Yu	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag
00209652	-	-	-	-	-	-	-	-	-	-	-	?	?	1	1	Paul van der Zwaag

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Global Variome shared LOVD

PKP2 (plakophilin 2)