Global Variome shared LOVD
KCNE1 (potassium voltage-gated channel, Isk-related...)
LOVD v.3.0 Build 30b [
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Curator:
Global Variome, with Curator vacancy
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View all transcripts of gene KCNE1
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View all variants affecting transcripts
View unique variants in gene KCNE1
View all variants in gene KCNE1
Full data view for gene KCNE1
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View all individuals with variants in gene KCNE1
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View all diseases associated with gene KCNE1
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View available phenotype columns
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View all screenings for gene KCNE1
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All individuals with variants in gene KCNE1
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.
78 entries on 1 page. Showing entries 1 - 78.
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Legend
How to query
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00004253
-
PubMed: Riuro 2014
5-generation family, 3 affecteds, 2 unaffected carriers (3985G>A)
-
-
-
-
-
-
-
-
LQT3
incomplete penetrance
1
1
Anna Iglesias
00004255
-
PubMed: Riuro 2014
-
-
-
-
-
-
-
-
-
LQT5
-
1
1
Anna Iglesias
00016927
-
PubMed: Riuro 2014
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Johan den Dunnen
00016928
-
PubMed: Riuro 2014
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Johan den Dunnen
00050544
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
?
bifid uvula, submucous cleft hard palate, pectus excavatum, autism with high cognitive abilities
1
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
00064164
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00132291
FamPatIV2
PubMed: Eisenberger 2018
4-generation family, 8 affected (4F, 4M)
M
no
Germany
white
-
-
-
-
DFNA
see paper; ...
1
8
Hanno Bolz
00148420
14661703-con
PubMed: Ackerman 2003
305 African American controls
-
-
United States
African Americans
-
-
-
-
-
-
1
110
Johan den Dunnen
00148421
14661704-con
PubMed: Ackerman 2003
305 African American controls
-
-
United States
African Americans
-
-
-
-
-
-
1
1
Johan den Dunnen
00148422
14661705-con
PubMed: Ackerman 2003
305 African American controls
-
-
United States
African Americans
-
-
-
-
-
-
1
1
Johan den Dunnen
00148423
14661706-con
PubMed: Ackerman 2003
305 African American controls
-
-
United States
African Americans
-
-
-
-
-
-
1
2
Johan den Dunnen
00148424
14661707-con
PubMed: Ackerman 2003
305 African American controls
-
-
United States
African Americans
-
-
-
-
-
-
1
1
Johan den Dunnen
00148440
14661723-con
PubMed: Ackerman 2003
187 Caucasian controls
-
-
United States
European, white
-
-
-
-
-
-
1
84
Johan den Dunnen
00148441
14661724-con
PubMed: Ackerman 2003
187 Caucasian controls
-
-
United States
European, white
-
-
-
-
-
-
1
2
Johan den Dunnen
00148448
14661731-con
PubMed: Ackerman 2003
134 Asian controls
-
-
United States
Asian
-
-
-
-
-
-
1
22
Johan den Dunnen
00148449
14661732-con
PubMed: Ackerman 2003
134 Asian controls
-
-
United States
Asian
-
-
-
-
-
-
1
1
Johan den Dunnen
00148455
14661738-con
PubMed: Ackerman 2003
118 Hispanic controls
-
-
United States
Hispanic
-
-
-
-
-
-
1
16
Johan den Dunnen
00285384
-
PubMed: Westenskow 2004
,
PubMed: Splawski 2000
,
PubMed: Harmer 2014
,
PubMed: Dvir 2014
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285385
-
PubMed: Priori 2013
,
PubMed: Kapplinger 2009
,
PubMed: Duzkale 2013
,
PubMed: Amendola 2015
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285386
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285387
-
PubMed: Schulze-Bahr 2001
,
PubMed: Refsgaard 2012
,
PubMed: Amendola 2015
,
PubMed: Dvir 2014
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285388
-
PubMed: Splawski 2000
,
PubMed: Priori 2013
,
PubMed: Harmer 2010
,
PubMed: Ng 2013
,
PubMed: Millat 2006
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285389
-
PubMed: Christiansen 2014
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285390
-
PubMed: Hedley 2013
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285391
-
PubMed: Bianchi 1999
,
PubMed: Kurokawa 2003
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285392
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285393
-
PubMed: Wu 2006
,
PubMed: Lai 2005
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285394
-
PubMed: Abitbol 1999
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285395
-
PubMed: Riuró 2015
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285396
-
PubMed: Abitbol 1999
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285397
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285398
-
PubMed: Tranebjærg 1993
,
PubMed: Alders 1993
,
PubMed: Duggal 1998
,
PubMed: Schulze-Bahr 1997
,
PubMed: Tyson 1997
,
PubMed: Abbott 2002
3,
PubMed: Tester 2006
9,
PubMed: Tester 2005
,
PubMed: Kurokawa 2003
,
PubMed: Splawski 1997
,
PubMed: Kapplinger 2009
,
PubMed: Amendola 2015
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285399
-
PubMed: Alders 1993
,
PubMed: Splawski 1997
,
PubMed: Westenskow 2004
,
PubMed: Harmer 2010
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285400
-
PubMed: Abitbol 1999
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285401
-
PubMed: Lai 2005
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285402
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285403
-
PubMed: Ackerman 2003
,
PubMed: Ng 2013
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285404
-
PubMed: Abitbol 1999
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285405
-
PubMed: Priori 2013
,
PubMed: Kapplinger 2009
,
PubMed: Amendola 2015
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285406
-
PubMed: Kapplinger 2009
,
PubMed: Duzkale 2013
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285407
-
PubMed: Olesen 2012
-
-
-
-
-
-
-
-
-
ATFB
-
1
1
Global Variome, with Curator vacancy
00285408
-
PubMed: Tranebjærg 1993
,
PubMed: Tyson 1997
,
PubMed: Huang 2001
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285409
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285410
-
PubMed: Duzkale 2013
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285411
-
PubMed: Tyson 1997
,
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285412
-
PubMed: Kapplinger 2009
,
PubMed: Duzkale 2013
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285413
-
PubMed: Liu 2013
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285414
-
PubMed: Napolitano 2005
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285415
-
PubMed: Ma 2003
,
PubMed: Harmer 2010
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285416
-
PubMed: Bianchi 1999
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285417
-
PubMed: Lieve 2013
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285418
-
PubMed: Bianchi 1999
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285419
-
PubMed: Abitbol 1999
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285420
-
PubMed: Ng 2013
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285421
-
PubMed: Napolitano 2005
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285422
-
PubMed: Berge 2008
,
PubMed: Kapplinger 2009
,
PubMed: Westenskow 2004
,
PubMed: Splawski 2000
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285423
-
PubMed: McGorrian 2013
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285424
-
PubMed: Obeyesekere 2012
,
PubMed: Kapplinger 2009
,
PubMed: Shim 2005
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285425
-
PubMed: Olesen 2012
-
-
-
-
-
-
-
-
-
ATFB
-
1
1
Global Variome, with Curator vacancy
00285426
-
PubMed: Millat 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285427
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285428
-
PubMed: Yoshinaga 2014
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285429
-
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285430
-
PubMed: Priori 2013
,
PubMed: Kapplinger 2009
,
PubMed: Ng 2013
,
PubMed: Amendola 2015
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285431
-
PubMed: Ohno 2007
,
PubMed: Priori 2013
,
PubMed: Kapplinger 2009
,
PubMed: Amendola 2015
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285432
-
PubMed: Tranebjærg 1993
,
PubMed: Schulze-Bahr 1997
-
-
-
-
-
-
-
-
-
?
-
1
1
Global Variome, with Curator vacancy
00285433
-
PubMed: Duzkale 2013
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00285434
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285435
-
PubMed: Kapplinger 2009
-
-
-
-
-
-
-
-
-
LQT
-
1
1
Global Variome, with Curator vacancy
00285436
-
PubMed: Duzkale 2013
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00292985
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
97
Mohammed Faruq
00292986
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
1
Mohammed Faruq
00292987
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
3
Mohammed Faruq
00292988
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
4
Mohammed Faruq
00304871
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
?
-
1
2
Mohammed Faruq
00320302
BVH1
PubMed: Isbister 2020
-
-
-
Australia
-
-
-
-
-
CM
survived sudden cardiac arrest
1
1
Johan den Dunnen
00446862
Pat170
PubMed: Miszalski-Jamka 2017
case solved
-
-
-
-
-
-
-
-
LVNC
-
1
1
Johan den Dunnen
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