All individuals with variants in gene COL11A2

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.

86 entries on 1 page. Showing entries 1 - 86.

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
00059136	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00059137	-	PubMed: Sommen 2016, Journal: Sommen 2016	-	-	-	-	-	-	-	-	-	DFNB;ARNSHL	-	1	1	Manou Sommen
00283189	-	PubMed: Melkoniemi 2000, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283190	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283191	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283192	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283193	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283194	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283195	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283196	-	PubMed: Robin 1993, PubMed: Brunner 1994, PubMed: Vikkula 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283197	-	PubMed: Pihlajamaa 1998, PubMed: Giedion 1982, PubMed: WEISSENBACHER 1964	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283198	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283199	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283200	-	PubMed: Robin 1993, PubMed: Vuoristo 2004, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283201	-	PubMed: Melkoniemi 2000, PubMed: Harel 2005, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283202	FamPatIII1/2	PubMed: Temtamy 2006	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	yes	Egypt	-	-	-	-	-	?	see paper; ...	1	2	Johan den Dunnen
00283203	-	PubMed: Iwasa 2015	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283204	-	PubMed: van Beelen 2012	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283205	-	PubMed: Melkoniemi 2000, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283206	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283207	-	PubMed: Acke 2014	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283208	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283209	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283210	-	PubMed: Miyagawa 2013	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00283211	-	PubMed: Tokgöz-Y?lmaz 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283212	-	PubMed: Avcin 2008	-	-	-	-	-	-	-	-	-	osteoarthritis	-	1	1	Global Variome, with Curator vacancy
00283213	-	PubMed: Shearer 1993, PubMed: McGuirt 1999	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00283214	-	PubMed: Melkoniemi 2000	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283215	-	-	-	-	-	-	-	-	-	-	-	STL	-	1	1	Global Variome, with Curator vacancy
00283216	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283217	-	PubMed: Tompson 2012	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283218	-	PubMed: Kayserili 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283219	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283220	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283221	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283222	-	PubMed: Chakchouk 2015	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00283223	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283224	-	PubMed: Melkoniemi 2000, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283225	-	PubMed: Shearer 1993, PubMed: McGuirt 1999, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00283226	-	PubMed: Melkoniemi 2000	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283227	-	PubMed: Miller 2010, PubMed: Farwell 2015	-	-	-	-	-	-	-	-	-	?	MR;ID;DD _ audiologic;otolaryngologic (child onset); cardiovascular (child onset); craniofacial (child onset); musculoskeletal;structural (child onset); multiple congenital anomalies (+;- neurodevelopmental symptoms)	1	1	Global Variome, with Curator vacancy
00283228	-	PubMed: Miyagawa 2013	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00283229	-	PubMed: van Steensel 1997, PubMed: Vikkula 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283230	-	PubMed: Melkoniemi 2000, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283231	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283232	-	PubMed: Chen 2005	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00283233	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283234	-	PubMed: Tompson 2012	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283235	-	PubMed: Melkoniemi 2000, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283236	-	PubMed: Duzkale 2013, PubMed: Jakkula 2005	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283237	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283238	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283239	-	PubMed: Melkoniemi 2003	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283240	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283241	-	-	-	-	-	-	-	-	-	-	-	HL	-	1	1	Global Variome, with Curator vacancy
00283242	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283243	-	PubMed: Melkoniemi 2000	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283244	-	PubMed: Richards 2015	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283245	-	PubMed: Melkoniemi 2003, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283246	-	PubMed: Duzkale 2013	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00283247	-	PubMed: Chakchouk 2015	-	-	-	-	-	-	-	-	-	deafness	-	1	1	Global Variome, with Curator vacancy
00289282	-	-	-	F	-	-	-	-	-	-	-	?	Cleft palate (HP:0000175); Pierre-Robin sequence (HP:0000201)	1	1	Andreas Laner
00294084	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	39	Mohammed Faruq
00294085	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	111	Mohammed Faruq
00294086	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00294087	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00294088	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00294089	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	7	Mohammed Faruq
00305091	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00305092	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00305093	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00311018	-	-	-	M	-	(Italy)	-	-	-	-	-	STL	-	1	1	Lucia Micale
00331365	15DG1315	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Micromelia, Abnormal facial shape	1	1	LOVD
00331366	17DG0785	PubMed: Maddirevula 2018	family	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Sensorineural hearing impairment, Limb undergrowth, Relative macrocephaly, Narrow cheNo	1	1	LOVD
00358956	Case71703	PubMed: Tiwari 2016	see paper	M	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00374695	S-3155	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00375000	Decipher272334	PubMed: Ververi 2018	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United Kingdom (Great Britain)	-	-	-	-	-	VERBRAS	see paper; ..., birth 40w, weight 2.8 kg (2nd-9th centile); height 157cm (25th), weight 40.3kg (2nd-9th), OFC 55.5cm (50th-75th); bilateral ptosis, mild hypertelorism, prominent nose, thin upper lip, wide mouth; moderate developmental delay/intellectual disability; walk-24m; speech first words 24m; no autism; 2y-raised CK 440 U/L	1	1	Johan den Dunnen
00397397	SB61-109	PubMed: Choi 2013	family, 3 affected	-	-	Korea	-	-	-	-	-	HL	-	1	3	Johan den Dunnen
00431797	P-0157	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431798	P-0158	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431802	P-0162	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431812	P-0172	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	reclassified as OI after molecular testing	1	1	Maria Pia Leone
00431819	P-0180	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Maria Pia Leone
00431823	P-0184	Leone 2023, submitted	-	-	-	Italy	-	-	-	-	-	?	-	2	1	Maria Pia Leone
00441512	4106	PubMed: Boucher 2020	-	-	-	France	-	-	-	-	-	HL	-	1	1	Johan den Dunnen
00441546	CIC8530	PubMed: Boucher 2020	control	-	-	France	-	-	-	-	-	Healthy/Control	-	2	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

COL11A2 (collagen, type XI, alpha 2)