Disease #00405 (LQT2 (QT syndrome, long, type 2 (LQT-2)), OMIM:613688)

Official abbreviation	LQT2
Name	QT syndrome, long, type 2 (LQT-2)
OMIM ID	613688
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	288
Phenotype entries for this disease	288
Associated with 2 genes	ALG10, KCNH2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-06-06 18:11:29 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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

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Operator	Column type	Example	Matches
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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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288 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

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
00004242	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT2	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	1	1	Anna Iglesias
00004243	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT2	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	1	1	Anna Iglesias
00004244	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT2	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	1	1	Anna Iglesias
00004245	-	PubMed: Riuro 2014	5-generation family, 7 affecteds	-	-	-	-	-	-	-	-	LQT2	incomplete penetrance	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	2	1	Anna Iglesias
00004246	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT2	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	1	1	Anna Iglesias
00004247	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT2	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	1	1	Anna Iglesias
00004248	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT2	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	1	1	Anna Iglesias
00004249	-	PubMed: Riuro 2014	3-generation family, 1 affected, 2 unaffected carriers not carrying c.1838C>T	-	-	-	-	-	-	-	-	LQT2	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	2	1	Anna Iglesias
00004250	-	PubMed: Riuro 2014	-	-	-	-	-	-	-	-	-	LQT2	-	KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A	KCNH2	1	1	Anna Iglesias
00049515	-	B0424	2-generation family, 0M, 3F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049516	-	B1393	2-generation family, 0M, 4F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049517	-	Fam876	3-generation family, 3M, 6F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	9	Hideki Itoh
00049518	-	Fam699	2-generation family, 2M, 2F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049519	-	Fam140	2-generation family, 1M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049520	-	B0161	2-generation family, 2M, 1F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049521	-	Fam917	2-generation family, 2M, 0F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049522	-	Fam72	2-generation family, 1M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049523	-	G11296	3-generation family, 3M, 3F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	6	Hideki Itoh
00049524	-	Fam312	3-generation family, 1M, 2F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049525	-	B0911	2-generation family, 0M, 2F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049526	-	G9979	3-generation family, 5M, 3F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	8	Hideki Itoh
00049527	-	Fam74	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049528	-	Fam294	2-generation family, 1M, 3F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049529	-	Fam522	2-generation family, 1M, 2F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049530	-	Fam28	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049531	-	Fam90	2-generation family, 2M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049532	-	Fam160	2-generation family, 0M, 3F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049533	-	G14227	2-generation family, 2M, 2F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049534	-	Fam36	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049535	-	P60.011	3-generation family, 0M, 6F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	6	Hideki Itoh
00049536	-	Fam452	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049537	-	Fam680	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049538	-	Fam760	3-generation family, 6M, 8F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	14	Hideki Itoh
00049539	-	Fam57	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049540	-	B0475	3-generation family, 1M, 4F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	5	Hideki Itoh
00049541	-	P72.459	3-generation family, 3M, 3F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	6	Hideki Itoh
00049542	-	M3139	2-generation family, 0M, 2F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049543	-	Fam525	2-generation family, 2M, 2F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049544	-	B1079	2-generation family, 1M, 1F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049545	-	P56268	3-generation family, 9M, 4F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	13	Hideki Itoh
00049546	-	G12704	2-generation family, 0M, 4F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049547	-	Fam162	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049548	-	Fam71	2-generation family, 0M, 3F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049549	-	Fam580	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049550	-	Fam113	3-generation family, 3M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049551	-	Fam35	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049552	-	B0764	2-generation family, 3M, 1F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049553	-	B0633	2-generation family, 1M, 2F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049554	-	Fam85	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049555	-	Fam117	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049556	-	B0179	2-generation family, 0M, 2F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049557	-	B0508	2-generation family, 1M, 3F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049558	-	Fam126	2-generation family, 2M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049559	-	Fam12	3-generation family, 0M, 3F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049560	-	Fam434	2-generation family, 0M, 2F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049561	-	Fam40	2-generation family, 1M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049562	-	Fam795	2-generation family, 2M, 1F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049563	-	Fam112	2-generation family, 4M, 0F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049564	-	P080.982	2-generation family, 4M, 4F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	8	Hideki Itoh
00049565	-	Fam158	3-generation family, 0M, 4F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049566	-	Fam335	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049567	-	P62.997	2-generation family, 3M, 4F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	7	Hideki Itoh
00049568	-	Fam94	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049569	-	Fam48	3-generation family, 2M, 3F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	5	Hideki Itoh
00049570	-	P74.854	2-generation family, 3M, 0F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049571	-	Fam537	2-generation family, 1M, 4F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	5	Hideki Itoh
00049572	-	Fam853	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049573	-	Fam118	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049574	-	G8007	2-generation family, 1M, 2F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049575	-	Fam75	2-generation family, 1M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049576	-	B0307	3-generation family, 6M, 5F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	11	Hideki Itoh
00049577	-	G3009	2-generation family, 2M, 0F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049578	-	Fam83	3-generation family, 2M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	4	Hideki Itoh
00049579	-	Fam46	2-generation family, 2M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049580	-	Fam226	2-generation family, 1M, 1F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049581	-	G9975	3-generation family, 11M, 14F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	25	Hideki Itoh
00049582	-	P061.890	3-generation family, 5M, 8F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	13	Hideki Itoh
00049583	-	Fam9	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049584	-	Fam123	2-generation family, 1M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049585	-	Fam102	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049586	-	Fam159	2-generation family, 2M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049587	-	Fam153	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049588	-	Fam52	2-generation family, 0M, 2F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049589	-	B0075	3-generation family, 9M, 4F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	13	Hideki Itoh
00049590	-	B0287	3-generation family, 3M, 3F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	6	Hideki Itoh
00049591	-	B0213	2-generation family, 1M, 1F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049592	-	B0700	2-generation family, 2M, 1F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049593	-	Fam144	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049594	-	Fam103	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049595	-	Fam8	3-generation family, 1M, 2F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049596	-	Fam38	2-generation family, 0M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049597	-	Fam150	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049598	-	Fam12	2-generation family, 1M, 2F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049599	-	B0060	3-generation family, 1M, 5F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	6	Hideki Itoh
00049600	-	Fam116	2-generation family, 1M, 1F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049601	-	Fam836	2-generation family, 0M, 3F	-	-	Germany	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049602	-	P080.639	3-generation family, 8M, 4F	-	-	Netherlands	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	3	Hideki Itoh
00049603	-	Fam11	2-generation family, 1M, 1F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	12	Hideki Itoh
00049604	-	Fam83	2-generation family, 3M, 0F	-	-	Japan	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	2	Hideki Itoh
00049605	-	B0241	3-generation family, 3M, 2F	-	-	France	-	-	-	-	-	LQT2	-	KCNH2	KCNH2	1	5	Hideki Itoh

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Global Variome shared LOVD

RB1 (retinoblastoma 1)