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.
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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.
|
|
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
|
| 00011663 |
- |
PubMed: Bauer 2012 |
2-generation family, affected brother and sister, unaffected carrier parents |
- |
yes |
Israel |
Arab |
- |
- |
- |
- |
SPG |
hereditary spastic paraplegia, type 47 (SPG-47); see article |
1 |
2 |
Johan den Dunnen |
| 00028978 |
- |
PubMed: Allegue 2015, Journal: Allegue 2015 |
- |
M |
- |
United States |
white |
>66y |
- |
- |
- |
BRGDA |
- |
1 |
1 |
Anna Iglesias |
| 00064102 |
- |
PubMed: Lopes 2013, Journal: Lopes 2013 |
analysis of 223 cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CMH |
- |
1 |
1 |
Johan den Dunnen |
| 00064110 |
- |
PubMed: Lopes 2013, Journal: Lopes 2013 |
analysis of 223 cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CMH |
- |
1 |
1 |
Johan den Dunnen |
| 00064118 |
- |
PubMed: Lopes 2013, Journal: Lopes 2013 |
analysis of 223 cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CMH |
- |
1 |
1 |
Johan den Dunnen |
| 00064131 |
- |
PubMed: Lopes 2013, Journal: Lopes 2013 |
analysis of 223 cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CMH |
- |
1 |
1 |
Johan den Dunnen |
| 00064135 |
- |
PubMed: Lopes 2013, Journal: Lopes 2013 |
analysis of 223 cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CMH |
- |
1 |
1 |
Johan den Dunnen |
| 00064203 |
- |
PubMed: Lopes 2013, Journal: Lopes 2013 |
analysis of 223 cases |
- |
- |
United Kingdom (Great Britain) |
- |
- |
- |
- |
- |
CMH |
- |
1 |
1 |
Johan den Dunnen |
| 00065140 |
SIDS091 |
PubMed: Neubauer 2017 Journal: Neubauer 2017 |
- |
M |
? |
Switzerland |
Europe |
00y02m |
- |
- |
- |
SIDS |
SIDS |
1 |
1 |
Cordula Haas |
| 00065144 |
SIDS101 |
PubMed: Neubauer 2017 Journal: Neubauer 2017 |
- |
M |
? |
Switzerland |
Europe |
00y06m |
- |
- |
- |
SIDS |
SIDS |
1 |
1 |
Cordula Haas |
| 00102062 |
12386154-? |
PubMed: Postma 2002 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia Associated with Catecholaminergic Ventricular Tachycardia phenotype only in the homozygous carriers. Heterozygous patients showed normal phenotype |
1 |
1 |
Johan den Dunnen |
| 00102063 |
12386154-? |
PubMed: Postma 2002 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia. The proband was heterozygous; in this family the CASQ2-related disease could be autosomal dominant but with a mild phenotype and very low penetrance |
1 |
1 |
Johan den Dunnen |
| 00102064 |
16601229-? |
PubMed: Terentyev 2006 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia |
1 |
1 |
Johan den Dunnen |
| 00102065 |
12386154-? |
PubMed: Postma 2002 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia. Associated with Catecholaminergic Ventricular Tachycardia phenotype only in the homozygous carriers. Heterozygous patients showed normal phenotype |
1 |
1 |
Johan den Dunnen |
| 00102066 |
18684293-? |
PubMed: deLa Fuente 2008 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia |
1 |
1 |
Johan den Dunnen |
| 00102067 |
19709828-? |
PubMed: Wong 2009 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Johan den Dunnen |
| 00102068 |
19709828-? |
PubMed: Wong 2009 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Johan den Dunnen |
| 00102069 |
16908766-? |
PubMed: Raffaele di Barletta 2006 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia |
1 |
1 |
Johan den Dunnen |
| 00102070 |
16908766-? |
PubMed: Raffaele di Barletta 2006 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia |
1 |
1 |
Johan den Dunnen |
| 00102071 |
19709828-? |
PubMed: Wong 2009 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia |
1 |
1 |
Johan den Dunnen |
| 00102072 |
18543230-? |
PubMed: Liu 2008 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia |
1 |
1 |
Johan den Dunnen |
| 00102073 |
20302875-? |
PubMed: Kirchhhefer 2010 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia. Possible autosomal dominat transmission |
1 |
1 |
Johan den Dunnen |
| 00102074 |
11704930-? |
PubMed: Lahat2002 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia |
1 |
1 |
Johan den Dunnen |
| 00102075 |
18684293-? |
PubMed: deLa Fuente 2008 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
Catecholaminergic Ventricular Tachycardia |
1 |
1 |
Johan den Dunnen |
| 00102076 |
19709828-? |
PubMed: Wong 2009 |
data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; |
- |
- |
- |
- |
- |
- |
- |
- |
Healthy/Control |
- |
1 |
1 |
Johan den Dunnen |
| 00128381 |
74 |
PubMed: Sahlin 2019, Journal: Sahlin 2019 |
stillbirth cohort (290 cases from Sweden) |
M |
- |
Sweden |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Ellika Sahlin |
| 00128386 |
83 |
PubMed: Sahlin 2019, Journal: Sahlin 2019 |
stillbirth cohort (290 cases from Sweden) |
M |
- |
Sweden |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Ellika Sahlin |
| 00128465 |
245 |
PubMed: Sahlin 2019, Journal: Sahlin 2019 |
stillbirth cohort (290 cases from Sweden) |
F |
- |
Sweden |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Ellika Sahlin |
| 00128491 |
289 |
PubMed: Sahlin 2019, Journal: Sahlin 2019 |
stillbirth cohort (290 cases from Sweden) |
M |
- |
Sweden |
- |
- |
- |
- |
- |
? |
- |
1 |
1 |
Ellika Sahlin |
| 00163921 |
17655857-FamOPatII4 |
PubMed: Chiu 2007 |
3-generation family, 1 affected; screen cohort 252 unrelated patients |
F |
no |
Australia |
- |
- |
- |
- |
- |
CMH |
48y-ECG asymmetric septal hypertrophy measuring 27 mm, no other clinical symptomsno family history of FHC |
1 |
1 |
Johan den Dunnen |
| 00204634 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204635 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204636 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204637 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
2 |
1 |
Joel Lunardi |
| 00204638 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204639 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
Joel Lunardi |
| 00204640 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204641 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
2 |
1 |
Joel Lunardi |
| 00204642 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204643 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204644 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204645 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
LVNC1 |
- |
1 |
1 |
LOVD |
| 00204646 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
2 |
1 |
Joel Lunardi |
| 00204647 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204648 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
LOVD |
| 00204649 |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CPVT2 |
- |
1 |
1 |
Joel Lunardi |
| 00289490 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
131 |
Mohammed Faruq |
| 00304144 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
3 |
Mohammed Faruq |
| 00317715 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
| 00317716 |
- |
PubMed: Walsh 2017 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Johan den Dunnen |
| 00453145 |
Fam294Pat314 |
Fusco 2042, submitted |
- |
F |
- |
Italy |
white |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Carmela Fusco |
| 00453153 |
Fam386Pat420 |
Fusco 2042, submitted |
- |
M |
- |
Italy |
white |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Carmela Fusco |
| 00453167 |
Fam225Pat244 |
Fusco 2042, submitted |
- |
F |
- |
Italy |
white |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Carmela Fusco |
| 00453168 |
Fam28Pat48 |
Fusco 2042, submitted |
- |
F |
- |
Italy |
white |
- |
- |
- |
- |
CM |
- |
1 |
1 |
Carmela Fusco |
|
|
Legend |
How to query |
