All individuals with variants in gene SCN5A

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.

794 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		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
00004251	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT3	-	1	1	Anna Iglesias
00004252	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT3	-	1	1	Anna Iglesias
00004253	-	PubMed: Riuro 2014	5-generation family, 3 affecteds, 2 unaffected carriers (3985G>A)	-	-	-	-	-	-	-	-	LQT3	incomplete penetrance	1	1	Anna Iglesias
00004254	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT3	-	1	1	Anna Iglesias
00016929	-	PubMed: Riuro 2014	3-generation family, 3 affecteds	-	-	-	-	-	-	-	-	LQT	-	1	3	Johan den Dunnen
00029639	-	-	-	F	no	Belgium	white	-	-	-	-	BRGDA, myotonia congenita, autosomal dominant (Thomsen disease)	asymptomatic Brugada syndrome	1	1	Uschi Peeters
00029640	-	-	-	M	no	Belgium	white	-	-	-	-	BRGDA	Brugada syndrome, myotonia	1	1	Uschi Peeters
00047336	-	Fam823	2-generation family, 2 carriers (1M, 1F)	-	-	Germany	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047337	-	Fam136	2-generation family, 2 carriers (2F)	F	-	Germany	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047338	-	Fam399	2-generation family, 3 carriers (3M)	M	-	Germany	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00047339	-	Fam427	2-generation family, 3 carriers (1M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00047340	-	F61.537U	3-generation family, 3 carriers (1M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00047342	-	F61.537T	3-generation family, 4 carriers (1M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00047343	-	F61.537S	3-generation family, 13 carriers (9M, 4F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	13	Hideki Itoh
00047469	-	Fam678	3-generation family, 4 carriers (2M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00047470	-	Fam913	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047471	-	Fam69	3-generation family, 6 carriers (4M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	6	Hideki Itoh
00047472	-	F61.537V	3-generation family, 8 carriers (2M, 6F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	8	Hideki Itoh
00047473	-	F75.324C	3-generation family, 5 carriers (3M, 2F)	?	-	Netherlands	-	-	-	-	-	LQT3	-	1	5	Hideki Itoh
00047474	-	F75.324A	3-generation family, 16 carriers (7M, 9F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	16	Hideki Itoh
00047475	-	F75.324B	3-generation family, 4 carriers (1M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00047476	-	Fam617	2-generation family, 2 carriers (2F)	F	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047477	-	Fam1044	2-generation family, 2 carriers (2F)	F	-	Germany	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047478	-	11350	2-generation family, 2 carriers (1M, 1F)	-	-	France	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047479	-	Fam689	2-generation family, 3 carriers (2M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00047480	-	Fam101	LQT3 2-generation family, 2 carriers (2M)	M	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047481	-	66.899	3-generation family, 9 carriers (6M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	9	Hideki Itoh
00047482	-	Fam91	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047483	-	B1017	2-generation family, 2 carriers (1M, 1F)	-	-	France	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047484	-	F76.721	2-generation family, 2 carriers (2F)	F	-	Netherlands	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047485	-	Fam909	2-generation family, 4 carriers (2M, 2F)	-	-	Germany	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00047486	-	F66.718	2-generation family, 5 carriers (1M, 4F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	5	Hideki Itoh
00047487	-	Fam123	2-generation family, 3 carriers (2M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00047488	-	Fam1015	2-generation family, 2 carriers (2M)	M	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047489	-	Fam15	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047490	-	Fam5	3-generation family, 16 carriers (4M, 12F)	-	-	Germany	-	-	-	-	-	LQT3	-	1	16	Hideki Itoh
00047491	-	Fam65	2-generation family, 4 carriers (3M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00047492	-	106.421	2-generation family, 2 carriers (1M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047493	-	9959	2-generation family, 2 carriers (1M, 1F)	-	-	France	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00047494	-	G17234	3-generation family, 14 carriers (7M, 7F)	-	-	France	-	-	-	-	-	LQT3	-	1	14	Hideki Itoh
00047495	-	F61.537A	3-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	5	Hideki Itoh
00049027	-	Fam145	2-generation family, 2 carriers (2F)	F	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049028	-	Fam48	3-generation family, 4 carriers (1M, 3F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00049029	-	F110.848	3-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	5	Hideki Itoh
00049030	-	63.186	2-generation family, 3 carriers (3M)	M	-	Netherlands	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00049031	-	79.767	2-generation family, 3 carriers (1M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00049032	-	F84.686	2-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	5	Hideki Itoh
00049033	-	94.652	3-generation family, 9 carriers (7M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	9	Hideki Itoh
00049034	-	B1033	3-generation family, 6 carriers (4M, 2F)	-	-	France	-	-	-	-	-	LQT3	-	1	6	Hideki Itoh
00049035	-	Fam232	2-generation family, 2 carriers (2F)	F	-	Germany	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049036	-	Fam81	2-generation family, 2 carriers (2M)	M	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049037	-	Fam477	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049038	-	Fam28	2-generation family, 3 carriers (1M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00049039	-	Fam44	2-generation family, 3 carriers (1M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00049040	-	Fam54	2-generation family, 2 carriers (2M)	M	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049041	-	Fam92	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049042	-	Fam125	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049043	-	Fam141	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049044	-	Fam145	2-generation family, 3 carriers (1M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00049045	-	Fam145	2-generation family, 3 carriers (3F)	F	-	Japan	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00049046	-	F61.537B	3-generation family, 9 carriers (7M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	9	Hideki Itoh
00049047	-	F61.537C	3-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	5	Hideki Itoh
00049048	-	F61.537D	2-generation family, 2 carriers (1M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049049	-	F61.537E	3-generation family, 10 carriers (5M, 5F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	10	Hideki Itoh
00049050	-	F61.537F	2-generation family, 2 carriers (1M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049051	-	F61.537G	3-generation family, 4 carriers (3M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00049052	-	F61.537I	2-generation family, 4 carriers (1M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00049053	-	F61.537Y	2-generation family, 4 carriers (1M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	4	Hideki Itoh
00049054	-	F61.537K	3-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	5	Hideki Itoh
00049055	-	F61.537L	2-generation family, 2 carriers (1M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	2	Hideki Itoh
00049056	-	F61.537N	3-generation family, 3 carriers (2M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00049057	-	F61.537O	3-generation family, 9 carriers (6M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	9	Hideki Itoh
00049058	-	F61.537P	3-generation family, 8 carriers (2M, 6F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	8	Hideki Itoh
00049059	-	F61.537Q	3-generation family, 6 carriers (4M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	6	Hideki Itoh
00049060	-	F61.537R	3-generation family, 3 carriers (2M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	1	3	Hideki Itoh
00064077	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064084	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064148	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064151	-	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
00064210	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064219	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064225	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064287	-	PubMed: Lopes 2013, Journal: Lopes 2013	analysis of 223 cases	-	-	United Kingdom (Great Britain)	-	-	-	-	-	CMH	-	1	1	Johan den Dunnen
00064708	-	-	-	F	-	Denmark	-	24y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00064709	-	-	-	M	-	Denmark	-	26y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00064718	-	-	-	M	-	Denmark	-	45y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00064720	-	-	-	F	-	Denmark	-	46y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00065147	SIDS142	PubMed: Neubauer 2017 Journal: Neubauer 2017	-	M	?	Switzerland	Europe	00y04m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00072354	20636320 pt1	PubMed: Sung 2011, Journal: Sung 2011	-	F	-	Mongolia	-	>36y	-	-	-	?	Premature rupture of membranes (HP:0001788), Caesarian section (HP:0011410), Congestive heart failure (HP:0001635), Prolonged QTc interval (HP:0005184), Exertional dyspnea (HP:0002875),	1	1	Pieter Klap
00101452	20129283-?	PubMed: Kapplinger 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen
00101453	20129283-?	PubMed: Kapplinger 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen
00101454	11901046-?	PubMed: Priori 2002	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen
00101455	20129283-?	PubMed: Kapplinger 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen
00101456	20129283-?	PubMed: Kapplinger 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen
00101457	20129283-?	PubMed: Kapplinger 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen
00101458	20129283-?	PubMed: Kapplinger 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen
00101459	11960580-?	PubMed: Levy-Nissenmaum 2001	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome. This mutation was associated with mild phenotype and low penetrance; expression studies were not performed	1	1	Johan den Dunnen
00101460	20129283-?	PubMed: Kapplinger 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen
00101461	20129283-?	PubMed: Kapplinger 2010	data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database;	-	-	-	-	-	-	-	-	BRGDA1	Brugada Syndrome	1	1	Johan den Dunnen

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Global Variome shared LOVD

SCN5A (sodium channel, voltage-gated, type V, alpha...)