All individuals with variants in gene LDLR

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.

3044 entries on 31 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00033731	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033771	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033772	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033773	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033775	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	2	1	Ingrid Braenne
00033778	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033779	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033781	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033782	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033784	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033785	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033788	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033789	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033790	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033792	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00033793	-	PubMed: Braenne 2016, Journal: Braenne 2016	-	-	-	Germany	-	-	-	-	FHCL2, MCI1	-	1	1	Ingrid Braenne
00034385	-	PubMed: Chahil 2012, Journal: Chahil 2012	brother from 2-generation family, affected brother/sister, clinically asymptomatic parents	M	?	Malaysia	Malay	>11y	-	-	FH	see paper; 18 DCLN points, LDLC 13.25 mmol/L, arcus cornealis (HP:0001084), no xanthelasma (-HP:0001114), tendious xanthomas (HP:0010874; tuberous, no planar), tendinous xanthomata (HP:0000991), cardiomegaly (HP:0001640), ...	1	2	Jagdish Kaur Chahil
00056431	-	PubMed: Chahil 2012, Journal: Chahil 2012	sister of subject21	F	?	Malaysia	Malay	>9y	-	-	FH	see paper; 14 DCLN points, LDLC 17.38 mmol/L, no arcus cornealis (-HP:0001084), no xanthelasma (-HP:0001114), xanthomas (HP:0010874; planar, no tuberous), no tendinous xanthomata (-HP:0000991), no cardiomegaly (-HP:0001640), ...	1	1	Jagdish Kaur Chahil
00058615	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	-	1	1	Dominika Gabcova
00058616	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	-	1	1	Dominika Gabcova
00058617	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	TC 11.2 mmol/l LDL-C 8.6 TAG 3.0	1	1	Dominika Gabcova
00058618	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	TC 7.8 mmol/l LDL-C 6.5	1	1	Dominika Gabcova
00058619	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	TC 10.3 mmol/l LDL-C 8.8 TAG 1.6	1	1	Dominika Gabcova
00058620	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	TC 10 mmol/l LDL-C 8 TAG 1.6	1	1	Dominika Gabcova
00058621	-	-	-	F	no	? (unknown)	-	-	no	-	FH	TC 9 mmol/l LDL-C 5 mmol/l TG 1 mmol/l	1	1	Dominika Gabcova
00058622	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	-	1	1	Dominika Gabcova
00058623	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	TC 9.1 mmol/l LDL-C 6.6 TAG 1.1	1	1	Dominika Gabcova
00058624	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	TC 10.8 mmol/l LDL-C 8.8 mmol/l TAG 2 mmol/l	1	1	Dominika Gabcova
00058625	-	-	-	F	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	TC 7.4 mmol/l LDL-C 5.6 mmol/l TAG 0.9 mmol/l	1	1	Dominika Gabcova
00058823	-	-	-	M	no	Slovakia (Slovak Republic)	causacian	-	yes	-	FH	TC 7.9 mmol/l LDL-C 6 mmol/l TAG 1.1 mmol/l	1	1	Dominika Gabcova
00060318	-	PubMed: Scholtz 1999	-	-	-	South Africa	Indigenous ZA	-	-	-	FH	-	1	1	Sarah Leigh
00060319	-	PubMed: Whittall 2002	-	-	-	United Kingdom (Great Britain)	Indigenous African	-	-	-	FH	-	1	1	Sarah Leigh
00060320	-	PubMed: Bodamer 2002	-	-	-	United States	US	-	-	-	FH	-	1	1	Sarah Leigh
00060321	-	PubMed: Scholtz 1999	-	-	-	South Africa	Mixed	-	-	-	FH	-	1	1	Sarah Leigh
00060322	-	PubMed: Snozek 2009	-	-	-	United States	African American	-	-	-	FH	Hmz phenotype, 48yr old female, MI, CVD, stents, TC 483mg/dl, LDL-C 393mg/dlm TG 282mg/dl, poor response to statins. No family history or samples because patient is adopted	1	1	Sarah Leigh
00060323	-	PubMed: Usifo 2012	-	-	-	United Kingdom (Great Britain)	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060324	-	PubMed: De Castro-Oros 2011	Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >270 mg/dl	-	-	Spain	Spanish	-	-	-	FH	probable familial hypercholesterolemia	1	1	Sarah Leigh
00060325	-	PubMed: Lind 2002	-	-	-	Sweden	SE	-	-	-	FH	-	1	1	Sarah Leigh
00060326	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	FH	-	1	1	Sarah Leigh
00060327	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	FH	-	1	1	Sarah Leigh
00060328	-	PubMed: Peeters 1998	-	-	-	South Africa	Pedi tribe	-	-	-	FH	-	1	1	Sarah Leigh
00060329	-	PubMed: Dedoussis 2004	-	-	-	Germany	DE	-	-	-	FH	-	1	1	Sarah Leigh
00060330	-	PubMed: De Castro-Oros 2011	Proband from FH family, with TX and CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >330 mg/dl	-	-	Spain	Spanish	-	-	-	FH	definite familial hypercholesterolemia	1	1	Sarah Leigh
00060331	-	PubMed: Francova 2004	-	-	-	Czech Republic	CZ	-	-	-	FH	-	1	1	Sarah Leigh
00060332	-	PubMed: Scholtz 1999	-	-	-	South Africa	non-European	-	-	-	FH	-	1	1	Sarah Leigh
00060333	-	PubMed: Khoo 2000	-	-	-	China	CN	-	-	-	FH	62yr old male, TC, LDL-C , HDL-C , TG , TX, acute MI or angina pectoris	1	1	Sarah Leigh
00060334	-	PubMed: Brusgaard 2006	-	-	-	Denmark	DK	-	-	-	FH	-	1	1	Sarah Leigh
00060335	-	PubMed: Tichy 2012	-	-	-	Czech Republic	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060336	-	PubMed: Day 1997	-	-	-	United Kingdom (Great Britain)	GB	-	-	-	FH	-	1	1	Sarah Leigh
00060337	-	PubMed: Mozas 2002	-	-	-	Spain	ES	-	-	-	FH	-	1	1	Sarah Leigh
00060338	-	PubMed: Leren 2004	-	-	-	Norway	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060339	-	PubMed: Alonso 2009	-	-	-	Spain	ES	-	-	-	FH	-	1	1	Sarah Leigh
00060340	-	PubMed: De Castro-Oros 2011	Proband from FH family, with TX. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 270 mg/dl	-	-	Spain	Spanish	-	-	-	FH	definite familial hypercholesterolemia	1	1	Sarah Leigh
00060341	-	PubMed: De Castro-Oros 2011	Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 415 mg/dl	-	-	Spain	Spanish	-	-	-	FH	definite familial hypercholesterolemia	1	1	Sarah Leigh
00060342	-	PubMed: Smith 2007	-	-	-	United Kingdom (Great Britain)	TR	-	-	-	FH	-	1	1	Sarah Leigh
00060343	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	FH	-	1	1	Sarah Leigh
00060344	-	PubMed: Sun 1995	-	-	-	United Kingdom (Great Britain)	Welsh	-	-	-	FH	-	1	1	Sarah Leigh
00060345	-	PubMed: Dedoussis 2003	-	-	-	Greece	GR	-	-	-	FH	-	1	1	Sarah Leigh
00060346	-	PubMed: Dedoussis 2003	-	-	-	United States	US	-	-	-	FH	-	1	1	Sarah Leigh
00060347	-	PubMed: Mak 1998	-	-	-	China	CN	-	-	-	FH	-	1	1	Sarah Leigh
00060348	-	PubMed: Koivisto 1994	-	-	-	Finland	Finland	-	-	-	FH	-	1	1	Sarah Leigh
00060349	-	PubMed: Kim 2004	-	-	-	Korea, South (Republic)	KR	-	-	-	FH	-	1	1	Sarah Leigh
00060350	-	PubMed: Leren 2004	-	-	-	Norway	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060351	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	FH	-	1	1	Sarah Leigh
00060352	-	PubMed: Jensen 1996	-	-	-	Denmark	DK	-	-	-	FH	Untreated TC 13.3 mmol/L, LDL-C 10.9 mmol/L, HDL 1.6 mmol/L, TG 1.8 mmol/L. No relative available to screen	1	1	Sarah Leigh
00060353	-	PubMed: De Castro-Oros 2011	Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = >500 mg/dl	-	-	Spain	Spanish	-	-	-	FH	definite familial hypercholesterolemia	1	1	Sarah Leigh
00060354	-	PubMed: Hobbs 1992	-	-	-	Colombia	CO	-	-	-	FH	-	1	1	Sarah Leigh
00060355	-	PubMed: Mozas 2004	-	-	-	Spain	ES	-	-	-	FH	-	1	1	Sarah Leigh
00060356	-	PubMed: Bourbon 2009	-	-	-	Portugal	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060357	-	PubMed: Medeiros 2010	-	-	-	Portugal	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060358	-	PubMed: Taylor 2010	-	-	-	United Kingdom (Great Britain)	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060359	-	PubMed: Hooper 2012	-	-	-	Australia	Unknown	-	-	-	FH	DLCNC score 6	1	1	Sarah Leigh
00060360	-	PubMed: Francova 2004	-	-	-	Czech Republic	CZ	-	-	-	FH	16 yr old male TC 6 mmol /L, LDL-C 4.3mmol /L , HDL-C 1.1mmol /L, TG 0.6mmol /L	1	1	Sarah Leigh
00060361	-	PubMed: Francova 2004	-	-	-	Czech Republic	CZ	-	-	-	FH	13 yr old male TC 5.8 mmol /L, LDL-C 3.2mmol /L , HDL-C1.23mmol /L, TG 1.6mmol /L	1	1	Sarah Leigh
00060362	-	PubMed: Francova 2004	-	-	-	Czech Republic	CZ	-	-	-	FH	11 yr old female TC 7.4 mmol /L, LDL-C 5.9mmol /L , HDL-C1.3mmol /L, TG 1mmol /L	1	1	Sarah Leigh
00060363	-	PubMed: Alonso 2009	-	-	-	Spain	ES	-	-	-	FH	-	1	1	Sarah Leigh
00060364	-	PubMed: Usifo 2012	-	-	-	United Kingdom (Great Britain)	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060365	-	PubMed: De Castro-Oros 2011	Proband from FH family, with CVD. No variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 220 mg/dl	-	-	Spain	Spanish	-	-	-	FH	probable familial hypercholesterolemia	1	1	Sarah Leigh
00060366	-	PubMed: Laurie 2004	-	-	-	New Zealand	European	-	-	-	FH	-	1	1	Sarah Leigh
00060367	-	PubMed: De Castro-Oros 2011	Proband from FH family, no variants identified from Lipochip v3–v8 (Progenika Biopharma, Derio, Spain). LDL-C = 195 mg/dl	-	-	Spain	Spanish	-	-	-	FH	probable familial hypercholesterolemia	1	1	Sarah Leigh
00060368	-	PubMed: Mozas 2004	-	-	-	Spain	ES	-	-	-	FH	-	1	1	Sarah Leigh
00060369	-	PubMed: Sozen 2005	-	-	-	Turkey	TR	-	-	-	FH	-	1	1	Sarah Leigh
00060370	-	PubMed: Day 1997	-	-	-	United Kingdom (Great Britain)	GB	-	-	-	FH	-	1	1	Sarah Leigh
00060371	-	PubMed: Medeiros 2010	-	-	-	Portugal	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060372	-	PubMed: Fouchier 2005	-	-	-	Netherlands	NL	-	-	-	FH	-	1	1	Sarah Leigh
00060373	-	PubMed: Amsellem 2002	-	-	-	France	FR	-	-	-	FH	-	1	1	Sarah Leigh
00060374	-	PubMed: Miljkovic J Lipid Res. 2010	-	-	-	Trinidad and Tobago	African	-	-	-	Healthy/Control	-	1	1	Sarah Leigh
00060375	-	PubMed: Bertolini 2013	Found in 3 Htz in one family. mRNA analysis performed, peptide change predicted.	-	-	Italy	IT	-	-	-	FH	-	1	3	Sarah Leigh
00060376	-	PubMed: Maruyama 1998	-	-	-	Japan	JP	-	-	-	FH	20 yrs old female clinically hmz from consanguinous parents. 26.0 mmol/L9 (TC?), TX, MI at 18 years.	1	1	Sarah Leigh
00060377	-	PubMed: Usifo 2012	-	-	-	United Kingdom (Great Britain)	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060378	-	PubMed: Leren 2004	-	-	-	Norway	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060379	-	PubMed: Tichy 2012	found in one proband	-	-	Czech Republic	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060380	-	PubMed: Lombardi 2000	-	-	-	Netherlands	NL	-	-	-	FH	-	1	1	Sarah Leigh
00060381	-	PubMed: Peeters 1999	-	-	-	Belgium	BE	-	-	-	FH	(1) TC 9·1, TG 1·1, HDL-C 1·4, LDL-C 7·2mmol/l. (2) TC 9·8, TG 1·0, HDL-C 0·5, LDL-C 8·8mmol/l. Neither had XT or CHD	1	2	Sarah Leigh
00060382	-	PubMed: Chmara 2010	-	-	-	Poland	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060383	-	PubMed: Widhalm 2007	-	-	-	Austria	AT	-	-	-	FH	-	1	1	Sarah Leigh
00060384	-	PubMed: Wang 2005	-	-	-	Canada	CA	-	-	-	FH	-	1	1	Sarah Leigh
00060385	-	PubMed: Chmara 2010	-	-	-	Poland	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060386	-	PubMed: Medeiros 2010	-	-	-	Portugal	Unknown	-	-	-	FH	-	1	1	Sarah Leigh
00060387	-	PubMed: Leren 2004	-	-	-	Norway	Unknown	-	-	-	FH	-	1	1	Sarah Leigh

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Global Variome shared LOVD

LDLR (low density lipoprotein receptor)