Global Variome shared LOVD
TNNI3 (troponin I type 3 (cardiac))
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curator:
Johan den Dunnen
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All individuals with variants in gene TNNI3
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.
253 entries on 3 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00016140
-
-
-
?
?
Netherlands
white
-
-
-
-
CMH
originally diagnosed with hypertrophic cardiomyopathy
1
1
Terry Vrijenhoek
00064092
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00064102
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00064106
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00064165
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00064170
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00064226
-
PubMed: Lopes 2013
,
Journal: Lopes 2013
analysis of 223 cases
-
-
United Kingdom (Great Britain)
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00108702
HCM
PubMed: Cecconi 2016
,
Journal: Cecconi 2016
-
-
-
Italy
-
-
-
-
-
CMH
-
1
1
Domenico Coviello
00108703
HCM
PubMed: Cecconi 2016
,
Journal: Cecconi 2016
-
-
-
Italy
-
-
-
-
-
CMH
-
1
1
Domenico Coviello
00108704
HCM
PubMed: Cecconi 2016
,
Journal: Cecconi 2016
-
-
-
Italy
-
-
-
-
-
CMH
-
1
1
Domenico Coviello
00108705
HCM
PubMed: Cecconi 2016
,
Journal: Cecconi 2016
-
-
-
Italy
-
-
-
-
-
CMH
-
1
1
Domenico Coviello
00128445
199
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
stillbirth cohort (290 cases from Sweden)
M
-
Sweden
-
-
-
-
-
?
-
1
1
Ellika Sahlin
00128459
232
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
stillbirth cohort (290 cases from Sweden)
M
-
Sweden
-
-
-
-
-
?
-
1
1
Ellika Sahlin
00154520
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154521
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154522
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154523
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154524
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154525
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154526
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154527
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154528
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154529
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154530
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154531
-
PubMed: Kimura 1997
,
OMIM:var0001
large multigenerational Korean family
-
-
Korea
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154532
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154533
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154534
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154535
-
PubMed: Kimura 1997
,
OMIM:var0015
2-generation family, affected father/son
-
-
Japan
-
-
-
-
-
CMH
-
1
2
Peikuan Cong
00154536
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154537
-
PubMed: Kimura 1997
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154538
-
PubMed: Kimura 1997
,
OMIM:var0014
2-generation family, affected mother/son/daugther
-
-
Japan
-
-
-
-
-
CMH
-
1
3
Peikuan Cong
00154539
-
PubMed: Kimura 1997
,
OMIM:var0002
-
-
-
Japan
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154540
-
PubMed: Niimura 2002
,
OMIM:var0003
-
-
-
-
-
-
-
-
-
CMH
late-onset
1
1
Peikuan Cong
00154541
-
PubMed: Niimura 2002
,
OMIM:var0004
-
-
-
-
-
-
-
-
-
CMH
late-onset
1
1
Peikuan Cong
00154542
-
PubMed: Mogensen 2003
4-generation family, 12 affecteds, 1 asymptomatic carrier
-
-
United Kingdom (Great Britain)
-
-
-
-
-
RCM
-
1
13
Peikuan Cong
00154543
-
PubMed: Mogensen 2003
2-generation family, 1 affected
-
-
-
-
19y
-
-
-
RCM
died of heart failure; marked bi-atrial dilatation, dilatation of pulmonary veins, normal-sized ventricles, normal wall thickness; ECG sinus rhythm with prominent P-waves, T-wave inversions, incomplete right bundle branch block; heart myocyte hypertrophy, abundant interstitial fibrosis, myofibril disarray
1
1
Johan den Dunnen
00154544
-
PubMed: Mogensen 2003
2-generation family, 1 affected
-
-
-
-
-
-
-
-
RCM
-
1
1
Peikuan Cong
00154545
-
PubMed: Mogensen 2003
2-generation family, 1 affected
-
-
-
-
-
-
-
-
RCM
-
1
1
Peikuan Cong
00154546
-
PubMed: Mogensen 2003
2-generation family, 1 affected
-
-
-
-
-
-
-
-
RCM
-
1
1
Peikuan Cong
00154547
-
PubMed: Mogensen 2003
2-generation family, 1 affected
-
-
-
-
-
-
-
-
RCM
-
1
1
Peikuan Cong
00154548
-
PubMed: Mogensen 2003
2-generation family, 1 affected
-
-
-
-
-
-
-
-
RCM
sudden death father
1
1
Peikuan Cong
00154549
-
PubMed: Richard 2003
-
-
-
France
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154550
-
PubMed: Richard 2003
-
-
-
France
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154551
-
PubMed: Richard 2003
-
-
-
France
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154552
-
PubMed: Richard 2003
-
-
-
France
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154553
-
PubMed: Richard 2003
-
-
-
France
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154554
-
PubMed: Richard 2003
-
-
-
France
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154555
-
PubMed: Morner 2000
3-generation family, mother (90y)/2 affected brothers (61y/64y), healthy carrier daugther (27y)
-
-
Sweden
-
-
-
-
-
CMH
mother dyspnoea, ECG-left ventricular hypertrophy/atrial fibrillation; brother-1 atrial fibrillation; bother-2 ST-T-changes/atrial fibrillation
1
4
Peikuan Cong
00154556
-
PubMed: Van Driest 2003
-
M
-
United States
-
>41y
-
-
-
CMH
-
1
1
Peikuan Cong
00154557
-
PubMed: Van Driest 2003
-
F
-
United States
-
>76y
-
-
-
CMH
-
1
1
Peikuan Cong
00154558
-
PubMed: Van Driest 2003
-
M
-
United States
-
>33y
-
-
-
CMH
-
1
1
Peikuan Cong
00154559
-
PubMed: Van Driest 2003
-
F
-
United States
-
>48y
-
-
-
CMH
-
1
1
Peikuan Cong
00154560
-
PubMed: Van Driest 2003
-
F
-
United States
-
>79y
-
-
-
CMH
-
1
1
Peikuan Cong
00154561
-
PubMed: Van Driest 2003
-
F
-
United States
-
>21y
-
-
-
CMH
-
1
1
Peikuan Cong
00154562
-
PubMed: Erdmann 2003
-
-
-
Germany
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154563
-
PubMed: Erdmann 2003
-
-
-
Germany
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154564
-
PubMed: Erdmann 2003
-
-
-
Germany
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154565
-
PubMed: Erdmann 2003
-
-
-
Germany
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154566
-
PubMed: Erdmann 2003
-
-
-
Germany
-
-
-
-
-
CMH
-
1
1
Peikuan Cong
00154567
-
PubMed: Murphy 2004
,
OMIM:var0009
2-generation family, affected brother/sister
-
-
United Kingdom (Great Britain)
-
-
-
-
-
CMD
-
2
2
Peikuan Cong
00154568
-
PubMed: Murphy 2004
,
OMIM:var0009
2-generation family, unaffected carriers
-
-
United Kingdom (Great Britain)
-
-
-
-
-
Healthy/Control
-
1
3
Johan den Dunnen
00154569
-
PubMed: Mogensen 2004
4-generation family, 1 affecteds, 4 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
5
Johan den Dunnen
00154570
-
PubMed: Mogensen 2004
2-generation family, 1 affected
-
-
Denmark
Arab
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154571
-
PubMed: Mogensen 2004
3-generation family, 2 affected, 2 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
4
Johan den Dunnen
00154572
-
PubMed: Mogensen 2004
4-generation family, 3 affecteds, 7 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
10
Johan den Dunnen
00154573
-
PubMed: Mogensen 2004
4-generation family, 2 affecteds, 3 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
5
Johan den Dunnen
00154574
-
PubMed: Mogensen 2004
3-generation family, 1 affected, 4 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
5
Johan den Dunnen
00154575
-
PubMed: Mogensen 2004
3-generation family, 1 affected, 5 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
6
Johan den Dunnen
00154576
-
PubMed: Mogensen 2004
3-generation family, 2 affected, 2 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
4
Johan den Dunnen
00154577
-
PubMed: Mogensen 2004
3-generation family, 2 affected
-
-
Denmark
white
-
-
-
-
CMH
-
1
2
Johan den Dunnen
00154578
-
PubMed: Mogensen 2004
4-generation family, 4 affecteds, 7 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
11
Johan den Dunnen
00154579
-
PubMed: Mogensen 2004
2-generation family, 1 affected
-
-
Denmark
white
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154580
-
PubMed: Mogensen 2004
2-generation family, 1 affected, 1 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
2
Johan den Dunnen
00154581
-
PubMed: Mogensen 2004
2-generation family, 1 affected, 1 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
2
Johan den Dunnen
00154582
-
PubMed: Mogensen 2004
2-generation family, 3 affecteds
-
-
Denmark
white
-
-
-
-
CMH
-
1
3
Johan den Dunnen
00154583
-
PubMed: Mogensen 2004
4-generation family, 4 affecteds, 3 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
7
Johan den Dunnen
00154584
-
PubMed: Mogensen 2004
3-generation family, 1 affected, 3 asymptomatic carrier
-
-
Denmark
Asian
-
-
-
-
CMH
-
1
4
Johan den Dunnen
00154585
-
PubMed: Mogensen 2004
3-generation family, 3 affecteds, 2 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
5
Johan den Dunnen
00154586
-
PubMed: Mogensen 2004
3-generation family, 1 affected, 1 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
2
Johan den Dunnen
00154587
-
PubMed: Mogensen 2004
3-generation family, 2 affected, 2 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
4
Johan den Dunnen
00154588
-
PubMed: Mogensen 2004
4-generation family, 4 affecteds, 3 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
7
Johan den Dunnen
00154589
-
PubMed: Mogensen 2004
2-generation family, 1 affected
-
-
Denmark
white
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154590
-
PubMed: Mogensen 2004
2-generation family, 1 affected
-
-
Denmark
white
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154591
-
PubMed: Mogensen 2004
3-generation family, 2 affected, 2 asymptomatic carrier
-
-
Denmark
white
-
-
-
-
CMH
-
1
4
Johan den Dunnen
00154592
-
PubMed: Mogensen 2004
-
-
-
Denmark
Asian
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154593
-
PubMed: Mogensen 2004
-
-
-
Denmark
Afro-Caribbean
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154594
-
PubMed: Doolan 2005
2-generation family, 1 affected
-
-
Australia
-
-
-
-
-
CMH
-
1
1
Johan den Dunnen
00154595
-
PubMed: Doolan 2005
3-generation family, 2 affected, 1 asymptomatic carrier
-
-
Australia
-
-
-
-
-
CMH
-
1
3
Johan den Dunnen
00154596
-
PubMed: Doolan 2005
3-generation family, 1 affected, 1 asymptomatic carrier
-
-
Australia
-
-
-
-
-
CMH
-
1
2
Johan den Dunnen
00154597
-
PubMed: Doolan 2005
4-generation family, 3 affecteds, 2 asymptomatic carrier
-
-
Australia
-
-
-
-
-
CMH
-
1
5
Johan den Dunnen
00154598
-
PubMed: Doolan 2005
4-generation family, 3 affecteds, 2 asymptomatic carrier
-
-
Australia
-
-
-
-
-
CMH
-
1
5
Johan den Dunnen
00154599
-
PubMed: Doolan 2005
4-generation family, 3 affecteds, 2 asymptomatic carrier
-
-
Australia
-
-
-
-
-
CMH
-
1
13
Johan den Dunnen
00154600
-
PubMed: Doolan 2005
4-generation family, 3 affecteds, 2 asymptomatic carrier
-
-
Australia
-
-
-
-
-
CMH
-
1
13
Johan den Dunnen
00154601
-
PubMed: Doolan 2005
4-generation family, 3 affecteds, 2 asymptomatic carrier
-
-
Australia
-
-
-
-
-
CMH
-
1
12
Johan den Dunnen
00154602
-
PubMed: Doolan 2005
4-generation family, 3 affecteds, 2 asymptomatic carrier
-
-
Australia
-
-
-
-
-
CMH
-
1
9
Johan den Dunnen
00154603
-
PubMed: Arad 2005
3-generation family, 7 affected, 2 asymptomatic carrier
-
-
United States
-
-
-
-
-
CMH
-
1
4
Peikuan Cong
00154604
-
PubMed: Morita 2006
-
-
-
United States
-
-
-
-
-
?
-
1
1
Peikuan Cong
00154605
-
PubMed: Kostareva 2009
-
-
-
Russia
-
-
-
-
-
RCM
-
1
1
Johan den Dunnen
00154606
-
PubMed: Frazier 2008
2-generation family, 1 affected, daugthers carry one variant
-
-
United States
African American
-
-
-
-
CMH
severe
1
2
Peikuan Cong
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