Disease #00407 (LQT3 (QT syndrome, long, type 3 (LQT-3)), OMIM:603830)

Official abbreviation	LQT3
Name	QT syndrome, long, type 3 (LQT-3)
OMIM ID	603830
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	74
Phenotype entries for this disease	72
Associated with 1 gene	SCN5A
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-06-06 19:19:48 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

Legend

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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

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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'

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74 entries on 1 page. Showing entries 1 - 74.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00004251	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT3	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	SCN5A	1	1	Anna Iglesias
00004252	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT3	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	SCN5A	1	1	Anna Iglesias
00004253	-	PubMed: Riuro 2014	5-generation family, 3 affecteds, 2 unaffected carriers (3985G>A)	-	-	-	-	-	-	-	-	LQT3	incomplete penetrance	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNE1, KCNQ1, SCN5A	3	1	Anna Iglesias
00004254	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT3	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	SCN5A	1	1	Anna Iglesias
00047336	-	Fam823	2-generation family, 2 carriers (1M, 1F)	-	-	Germany	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047337	-	Fam136	2-generation family, 2 carriers (2F)	F	-	Germany	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047338	-	Fam399	2-generation family, 3 carriers (3M)	M	-	Germany	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00047339	-	Fam427	2-generation family, 3 carriers (1M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00047340	-	F61.537U	3-generation family, 3 carriers (1M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00047342	-	F61.537T	3-generation family, 4 carriers (1M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00047343	-	F61.537S	3-generation family, 13 carriers (9M, 4F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	13	Hideki Itoh
00047469	-	Fam678	3-generation family, 4 carriers (2M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00047470	-	Fam913	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047471	-	Fam69	3-generation family, 6 carriers (4M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	6	Hideki Itoh
00047472	-	F61.537V	3-generation family, 8 carriers (2M, 6F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	8	Hideki Itoh
00047473	-	F75.324C	3-generation family, 5 carriers (3M, 2F)	?	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	5	Hideki Itoh
00047474	-	F75.324A	3-generation family, 16 carriers (7M, 9F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	16	Hideki Itoh
00047475	-	F75.324B	3-generation family, 4 carriers (1M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00047476	-	Fam617	2-generation family, 2 carriers (2F)	F	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047477	-	Fam1044	2-generation family, 2 carriers (2F)	F	-	Germany	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047478	-	11350	2-generation family, 2 carriers (1M, 1F)	-	-	France	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047479	-	Fam689	2-generation family, 3 carriers (2M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00047480	-	Fam101	LQT3 2-generation family, 2 carriers (2M)	M	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047481	-	66.899	3-generation family, 9 carriers (6M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	9	Hideki Itoh
00047482	-	Fam91	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047483	-	B1017	2-generation family, 2 carriers (1M, 1F)	-	-	France	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047484	-	F76.721	2-generation family, 2 carriers (2F)	F	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047485	-	Fam909	2-generation family, 4 carriers (2M, 2F)	-	-	Germany	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00047486	-	F66.718	2-generation family, 5 carriers (1M, 4F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	5	Hideki Itoh
00047487	-	Fam123	2-generation family, 3 carriers (2M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00047488	-	Fam1015	2-generation family, 2 carriers (2M)	M	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047489	-	Fam15	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047490	-	Fam5	3-generation family, 16 carriers (4M, 12F)	-	-	Germany	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	16	Hideki Itoh
00047491	-	Fam65	2-generation family, 4 carriers (3M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00047492	-	106.421	2-generation family, 2 carriers (1M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047493	-	9959	2-generation family, 2 carriers (1M, 1F)	-	-	France	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00047494	-	G17234	3-generation family, 14 carriers (7M, 7F)	-	-	France	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	14	Hideki Itoh
00047495	-	F61.537A	3-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	5	Hideki Itoh
00049027	-	Fam145	2-generation family, 2 carriers (2F)	F	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049028	-	Fam48	3-generation family, 4 carriers (1M, 3F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00049029	-	F110.848	3-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	5	Hideki Itoh
00049030	-	63.186	2-generation family, 3 carriers (3M)	M	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00049031	-	79.767	2-generation family, 3 carriers (1M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00049032	-	F84.686	2-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	5	Hideki Itoh
00049033	-	94.652	3-generation family, 9 carriers (7M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	9	Hideki Itoh
00049034	-	B1033	3-generation family, 6 carriers (4M, 2F)	-	-	France	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	6	Hideki Itoh
00049035	-	Fam232	2-generation family, 2 carriers (2F)	F	-	Germany	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049036	-	Fam81	2-generation family, 2 carriers (2M)	M	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049037	-	Fam477	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049038	-	Fam28	2-generation family, 3 carriers (1M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00049039	-	Fam44	2-generation family, 3 carriers (1M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00049040	-	Fam54	2-generation family, 2 carriers (2M)	M	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049041	-	Fam92	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049042	-	Fam125	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049043	-	Fam141	2-generation family, 2 carriers (1M, 1F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049044	-	Fam145	2-generation family, 3 carriers (1M, 2F)	-	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00049045	-	Fam145	2-generation family, 3 carriers (3F)	F	-	Japan	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00049046	-	F61.537B	3-generation family, 9 carriers (7M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	9	Hideki Itoh
00049047	-	F61.537C	3-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	5	Hideki Itoh
00049048	-	F61.537D	2-generation family, 2 carriers (1M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049049	-	F61.537E	3-generation family, 10 carriers (5M, 5F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	10	Hideki Itoh
00049050	-	F61.537F	2-generation family, 2 carriers (1M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049051	-	F61.537G	3-generation family, 4 carriers (3M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00049052	-	F61.537I	2-generation family, 4 carriers (1M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00049053	-	F61.537Y	2-generation family, 4 carriers (1M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	4	Hideki Itoh
00049054	-	F61.537K	3-generation family, 5 carriers (2M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	5	Hideki Itoh
00049055	-	F61.537L	2-generation family, 2 carriers (1M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	2	Hideki Itoh
00049056	-	F61.537N	3-generation family, 3 carriers (2M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00049057	-	F61.537O	3-generation family, 9 carriers (6M, 3F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	9	Hideki Itoh
00049058	-	F61.537P	3-generation family, 8 carriers (2M, 6F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	8	Hideki Itoh
00049059	-	F61.537Q	3-generation family, 6 carriers (4M, 2F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	6	Hideki Itoh
00049060	-	F61.537R	3-generation family, 3 carriers (2M, 1F)	-	-	Netherlands	-	-	-	-	-	LQT3	-	SCN5A	SCN5A	1	3	Hideki Itoh
00148118	15840476-?	PubMed: Tester 2005	3 patients	-	-	United States	-	-	-	-	-	LQT3	Romano Ward syndrome, Compound heterozygous with KCNQ1 V254M - no-cosegregation with LQT phenotype.	SCN5A	SCN5A	1	3	Johan den Dunnen
00148124	15840476-?	PubMed: Tester 2005	2 patients	-	-	United States	-	-	-	-	-	LQT3	Drug-induced Torsade de Pointes, QT interval prolongation	SCN5A	SCN5A	1	2	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

YBX1 (Y box binding protein 1)