All individuals with variants in gene COL6A1

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.

771 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		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
00035383	-	-	-	-	-	Germany	-	-	-	-	MYOP	myopathia since the forth year of life, tetralogy of Fallot	1	1	Andreas Laner
00035384	-	-	-	-	-	Germany	-	-	-	-	MYOP	myopathia since the forth year of life, tetralogy of Fallot	1	1	Andreas Laner
00035385	-	-	-	-	-	Germany	-	-	-	-	MYOP	myopathia since the forth year of life, tetralogy of Fallot	1	1	Andreas Laner
00035386	-	-	-	-	-	Germany	-	-	-	-	MYOP	myopathia since the forth year of life, tetralogy of Fallot	1	1	Andreas Laner
00035387	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035388	-	-	-	-	-	Germany	-	-	-	-	MYOP	myopathia since the forth year of life, tetralogy of Fallot	1	1	Andreas Laner
00035389	-	-	-	-	-	Germany	-	-	-	-	MYOP	myopathia since the forth year of life, tetralogy of Fallot	1	1	Andreas Laner
00035390	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035391	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035392	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035393	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035394	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035395	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035396	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035397	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035398	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035399	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035400	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035401	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035402	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035403	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035404	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035405	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035406	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035407	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035408	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035409	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035410	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035411	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035412	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035413	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035414	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035415	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035416	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00035417	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00054696	-	PubMed: O'Grady 2016	-	M	-	Australia	-	>15y	-	-	MDC	weakness, hypermobility and distal laxity; CPK mild elevation (265-306); histology dystrophic	1	1	Sandra Cooper
00054697	Pat62	PubMed: O'Grady 2016	-	F	-	Australia	-	>14y	-	-	MDC	proximal weakness, distal laxity, round face, prominent heels and hyperkeratosis pilaris; CPK mild elevation (395); IHC COLVI; histology dystrophic	1	1	Shireen Lamandé
00054701	Pat70	PubMed: O'Grady 2016	2-generation family, unaffected heterozygous carrier parents	M	-	Australia	-	>12y	-	-	MDC	infantile onset, gross motor delay, distal laxity, contractures, hyperkeratosis pilaris, prominent heels; CPK mild elevation (245); IHC COLVI; histology dystrophic	1	1	Shireen Lamandé
00054704	Pat94	PubMed: O'Grady 2016	2-generation family, unaffected heterozygous carrier parents	M	-	Australia	-	>12y	-	-	MDC	gross motor delay, hypermobility, distal laxity, contractures, malar flush, restrictive lung disease; CPK mild elevation (245); IHC COLVI; histology dystrophic	1	1	Shireen Lamandé
00054705	Pat100	PubMed: O'Grady 2016	-	M	-	Australia	-	>9y	-	-	MDC	infantile hypotonia and weakness, gross motor delay, walked age 20mo, mild facial weakness, distal laxity, contractures, hyperkeratosis pilaris, finger flexor contractures; CPK mild elevation (419); IHC COLVI; histology dystrophic	1	1	Shireen Lamandé
00054707	Pat105	PubMed: O'Grady 2016	-	F	-	Australia	-	>11y	-	-	MDC	infantile hypotonia, omphalocoele, gross motor delay, walked age 2y, mild facial weakness, distal laxity, contractures; CPK mild elevation (254); IHC COLVI; histology dystrophic	1	1	Shireen Lamandé
00054708	Pat111	PubMed: O'Grady 2016	-	F	-	Australia	-	>5y	-	-	MDC	infantile hypotonia, arthrogryposis, congenital hip dysplasia, gross motor delay, contractures, hyperkeratosis pilaris, prominent heels, hypertrophic scarring; CPK mild elevation (338); IHC COLVI; histology dystrophic	1	1	Shireen Lamandé
00054709	Pat118	PubMed: O'Grady 2016	-	F	-	Australia	-	>9y	-	-	MDC	infantile hypotonia, gross motor delay, non-ambulant, distal laxity, contractures, scoliosis, hyperkeratosis; CPK mild elevation (415)	1	1	Shireen Lamandé
00108711	MYO-SEQ Pat12	MYO-SEQ project, UK	-	M	no	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	2	1	Alison Blain
00108717	MYO-SEQ Pat18	MYO-SEQ project, UK	-	F	?	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	1	1	Alison Blain
00108723	MYO-SEQ Pat23	MYO-SEQ project, UK	-	F	no	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	1	1	Alison Blain
00108726	MYO-SEQ Pat26	MYO-SEQ project, UK	-	F	no	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	1	1	Alison Blain
00108732	MYO-SEQ Pat31	MYO-SEQ project, UK	-	F	?	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	1	1	Alison Blain
00108733	MYO-SEQ Pat32	MYO-SEQ project, UK	-	F	?	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	1	1	Alison Blain
00108737	MYO-SEQ Pat36	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	1	1	Alison Blain
00108739	MYO-SEQ Pat5	MYO-SEQ project, UK	-	M	?	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	1	1	Alison Blain
00108740	MYO-SEQ Pat6	MYO-SEQ project, UK	2-generation family, affected father and 2 sons	M	?	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	-	1	3	Alison Blain
00108745	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	BTHLM1	-	1	1	Johan den Dunnen
00108746	?	PubMed: Scacheri 2002	4 generation family, 12 affecteds	-	-	United States	white	-	-	-	MDC	LGMD-AD, infantile onset 6 patients	1	12	Johan den Dunnen
00108747	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	BTHLM1	-	1	1	Johan den Dunnen
00108748	P13	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	BTHLM1	-	1	1	Anne Lampe
00108749	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	BTHLM1	-	1	1	Johan den Dunnen
00108750	?	PubMed: LamandÈ 1999	-	M	-	-	-	-	-	-	BTHLM1	-	1	1	Johan den Dunnen
00108751	?	PubMed: Pan 2003	-	M	-	-	-	-	-	-	BTHLM1	-	1	1	Johan den Dunnen
00108752	P10	PubMed: Lucioli 2005	unrelated patients	-	-	-	-	-	-	-	BTHLM1	-	1	1	Anne Lampe
00108753	?	PubMed: Pepe 1999	3 generation family, affected mother and grandfather	-	-	-	-	-	-	-	BTHLM1	-	1	3	Johan den Dunnen
00108754	P3	PubMed: Giusti 2005	-	-	-	Italy	-	-	-	-	UCMD	-	2	1	Anne Lampe
00108755	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	BTHLM1	-	1	1	Johan den Dunnen
00108756	?	PubMed: Lampe 2005	heterozygous parents	-	-	-	-	-	-	-	UCMD	-	1	1	Johan den Dunnen
00108757	P2	PubMed: Giusti 2005	-	-	-	Turkey	-	-	-	-	UCMD	-	1	1	Anne Lampe
00108758	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	BTHLM1	mild	1	3	Johan den Dunnen
00108759	?	PubMed: Scacheri 2002	large 4 generation family	-	-	United States	white	-	-	-	LGMD1	LGMD-AD	1	1	Johan den Dunnen
00108760	?	PubMed: Vanegas 2002	4 generation family	-	-	Italy	-	-	-	-	BTHLM1	mild	1	1	Johan den Dunnen
00108761	P1	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	BTHLM1	-	1	1	Anne Lampe
00108762	P6	PubMed: Lucioli 2005	3 generation family	-	-	-	-	-	-	-	BTHLM1	-	1	1	Anne Lampe
00108763	P5	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	BTHLM1	prominent contractures	1	1	Anne Lampe
00108764	16278855-PatA	PubMed: Pepe 2005	-	F	no	France	-	-	-	-	UCMD	see paper; ..., mild	1	1	Anne Lampe
00108765	B	PubMed: Pepe 2005	-	-	-	-	-	-	-	-	BTHLM1	heterozygous, change in one individual	1	1	Anne Lampe
00108766	?	PubMed: Pan 2003	-	M	-	-	-	>12y	-	-	UCMD	-	1	1	Johan den Dunnen
00108767	P16	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	BTHLM1	-	1	1	Anne Lampe
00108768	Pat28, Pat29	PubMed: Lampe 2005	first degree relatives, no confirmatory data	-	-	-	-	-	-	-	BTHLM1	-	1	1	Johan den Dunnen
00108769	P12	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	BTHLM1	-	1	1	Anne Lampe
00108770	Pat45	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	UCMD	mild	1	1	Johan den Dunnen
00108771	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	UCMD	-	1	2	Johan den Dunnen
00108772	P4	PubMed: Giusti 2005	-	-	-	Italy	-	-	-	-	UCMD	mild	3	1	Anne Lampe
00108773	P1	PubMed: Giusti 2005	-	-	yes	Turkey	-	-	-	-	UCMD	-	3	1	Anne Lampe
00108774	Pat43	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	BTHLM1	severe	1	1	Johan den Dunnen
00108775	P5	PubMed: Giusti 2005	-	-	-	Belgium	-	-	-	-	UCMD	mild	2	1	Anne Lampe
00108776	P14	PubMed: Lucioli 2005	-	-	-	-	-	-	-	-	BTHLM1	severe	1	1	Anne Lampe
00108777	?	PubMed: Jobsis 1996	3 generation family	-	-	-	-	-	-	-	BTHLM1	-	1	1	Johan den Dunnen
00108778	?	PubMed: LamandÈ 1998	large family, 9 affecteds	-	-	-	-	-	-	-	BTHLM1	-	1	9	Johan den Dunnen
00108779	?	PubMed: Baker 2005	-	-	-	-	-	-	-	-	UCMD	-	1	1	Johan den Dunnen
00108785	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	BTHLM1	severe	1	1	Johan den Dunnen
00108795	Pat47	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	UCMD	mild	1	1	Johan den Dunnen
00108806	?	PubMed: Lampe 2005	-	-	-	-	-	-	-	-	UCMD	mild	1	1	Johan den Dunnen
00108823	?	PubMed: Baker 2007	-	M	-	Australia	-	-	-	-	BTHLM1	-	2	1	Johan den Dunnen
00108824	?	PubMed: Baker 2007	-	M	-	United States	-	-	-	-	BTHLM1	CPK normal	3	1	Johan den Dunnen
00108825	?	PubMed: Baker 2007	-	M	-	United States	-	-	-	-	BTHLM1	CPK increased	1	1	Johan den Dunnen
00108826	?	PubMed: Baker 2007	-	F	-	Australia	-	-	-	-	BTHLM1	CPK increased	5	1	Johan den Dunnen
00108827	?	PubMed: Baker 2007	-	M	-	New Zealand	-	-	-	-	BTHLM1	CPK normal	1	1	Johan den Dunnen
00108828	?	PubMed: Baker 2007	-	M	-	Australia	-	-	-	-	BTHLM1	-	6	1	Johan den Dunnen
00108829	?	PubMed: Baker 2007	-	M	-	United Kingdom (Great Britain)	-	-	-	-	BTHLM1	CPK normal	2	1	Johan den Dunnen
00108830	?	PubMed: Baker 2007	-	M	-	Australia	-	-	-	-	BTHLM1	-	3	1	Johan den Dunnen
00108831	?	PubMed: Kawahara	-	-	-	-	-	-	-	-	UCMD	-	1	1	Johan den Dunnen
00108832	?	PubMed: Baker 2007	-	M	-	Belgium	-	-	-	-	BTHLM1	CPK normal	1	1	Johan den Dunnen

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Global Variome shared LOVD

COL6A1 (collagen, type VI, alpha 1)