Disease #00635 (OI4 (osteogenesis imperfecta, type IV (OI4)), OMIM:166220)

Official abbreviation	OI4
Name	osteogenesis imperfecta, type IV (OI4)
OMIM ID	166220
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	869
Phenotype entries for this disease	8
Associated with 2 genes	COL1A1, COL1A2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-05-16 21:54:24 +02:00 (CEST)

Individuals

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.

869 entries on 9 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00320462	-	-	The patient harbours a deletion of exons 1 to 6. The 5´ break-point lies somewhere 5´ to the start of transcription. The 3´ break-point lies somewhere within intron 6 between the +33 and -42 positions.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320470	-	PubMed: Liu et al., 2017	-	-	-	-	Chinese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320501	-	PubMed: Ho Duy et al., 2016	-	-	-	-	Vietnamese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320508	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320518	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320519	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320542	-	-	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320547	-	PubMed: Yang et al., 2018	-	-	-	-	Han Chinese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320554	EE19	PubMed: Zhytnik 2017	-	-	-	Estonia	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Lidiia Zhytnik
00320561	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320567	UA08	PubMed: Zhytnik 2019	-	-	-	Ukraine	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1, COL1A2	2	1	Lidiia Zhytnik
00320575	-	PubMed: Pollitt et al., 2006	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320589	-	PubMed: Lin et al., 2015	-	-	-	-	Taiwanese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320628	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Gerard Pals
00320629	-	PubMed: Lin et al., 2015	The variant is incorrectly described as c.477_478insT.	-	-	-	Taiwanese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320645	-	-	-	-	-	-	-	-	-	-	-	OI, OI1, OI4	-	COL1A1	COL1A1	1	1	Sofie Symoens
00320646	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320694	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320712	-	PubMed: Witecka et al., 2008	The proband's father (patient 29) also harbours the same mutation.	-	-	-	-	-	-	-	-	OI, OI1, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320713	-	PubMed: Balasubramanian et al., 2015	The authors have confirmed that the patient's phenotype is OI type IV, rather than OI I/IV.The patient was subsequently presented again as Patient 1 by {PMID26863094:Balasubramanian et al., 2016}.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320717	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320718	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320721	-	PubMed: Marini et al., 2007	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320722	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320724	-	PubMed: Cabral et al., 2005	In figure 2b of Cabral et al. the mutation is mistakenly described as a substitution to aspartic acid.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320725	-	PubMed: Cabral et al., 2005	In figure 2b of Cabral et al. the mutation is mistakenly described as a substitution to aspartic acid.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320726	-	PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320730	-	PubMed: Gardner et al., 2018	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Nick Shaw
00320742	-	-	-	-	-	-	Chinese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Yanqin Lu
00320744	-	PubMed: Lindahl et al., 2015	-	-	-	-	Swedish	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Katarina Lindahl
00320752	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320754	-	PubMed: Cabral et al., 2005	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320755	-	PubMed: Marini et al., 2007 (Körkkö and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI1, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320756	-	PubMed: Zhang et al., 2011	-	-	-	-	Han Chinese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320757	-	-	-	-	-	-	Han	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xue Bai
00320758	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320760	-	PubMed: Lin et al., 2015	-	-	-	-	Taiwanese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320761	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320762	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320763	-	PubMed: Bateman et al., 1994	A cryptic splice site in intron 7 is activated resulting in 96 bp of intron 7 being retained in the mRNA from the mutant allele. This results in a 32 amino acid non-collagenous insertion.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320765	-	-	-	-	-	-	Chinese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Yanqin Lu
00320767	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320774	-	-	-	-	-	-	white	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Roughley
00320792	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Sofie Symoens
00320798	-	-	-	-	-	-	-	-	-	-	-	OI, OI1, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320807	-	PubMed: Gentile et al., 2013	The predicted disease phenotype for this patient would normally be OI I, rather than OI IV. The reported phenotype has been confirmed by the submitter.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320809	-	-	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320813	-	PubMed: Marini et al., 2007 (Roughley and Glorieux, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320818	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320821	-	PubMed: Marini et al., 2007 (Byers, personal communication)	Skips exon 10.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320823	-	PubMed: Rolvien et al., 2018	The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320826	-	PubMed: Marini et al., 2007	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Roughley
00320828	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320839	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320842	EE04	PubMed: Zhytnik 2017	-	-	-	Estonia	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Lidiia Zhytnik
00320848	-	PubMed: Lindahl et al., 2015	-	-	-	-	Kurdish	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Katarina Lindahl
00320853	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320856	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320857	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320859	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320861	UA57	PubMed: Zhytnik 2019	-	-	-	Ukraine	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Lidiia Zhytnik
00320872	-	PubMed: Lee et al., 2006	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320873	-	PubMed: Venturi et al., 2006	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320874	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320875	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320876	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320877	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320882	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320884	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320889	-	PubMed: Gentile et al., 2013	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320892	-	-	-	-	-	-	-	-	-	-	-	OI, OI1, OI4	-	COL1A1	COL1A1	1	1	Sofie Symoens
00320893	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Sofie Symoens
00320898	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320904	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320908	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320910	-	PubMed: Bardai et al.,2016	The technique used was the custom NGS Gene panel.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Ghalib Bardai, Patrizia Mason
00320916	-	PubMed: Zarate et al., 2016	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320917	-	PubMed: Cabral et al., 2005	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320923	UA80	PubMed: Zhytnik 2019	-	-	-	Ukraine	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Lidiia Zhytnik
00320929	-	PubMed: Marini et al., 2007 (De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI1, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320930	-	PubMed: Marini et al., 2007 (De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320936	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320938	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI1, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320940	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320943	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320945	-	-	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Isabel Mandy Nesbitt
00320947	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320951	-	PubMed: Marini et al., 2007 (Byers, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI1, OI4	-	COL1A1	COL1A1	1	1	Peter Byers
00320957	-	PubMed: Li 2019, Journal: Li 2019	-	-	-	China	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Xiuli Zhao
00320958	UA43	PubMed: Zhytnik 2019	-	-	-	Ukraine	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Lidiia Zhytnik
00320959	UA56	PubMed: Zhytnik 2019	-	-	-	Ukraine	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Lidiia Zhytnik
00320962	-	PubMed: Lin et al., 2015	The variant in this pateint is not known to affect splicing.	-	-	-	Taiwanese	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320966	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320967	-	PubMed: Marini et al., 2007 (Hyland and Prockop, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320970	-	PubMed: Adur et al., 2013	The patient is described as having moderate OI.	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320976	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320978	-	PubMed: Hartikka et al., 2004	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320993	-	PubMed: Ward et al., 2001	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish
00320994	-	-	-	-	-	-	-	-	-	-	-	OI, OI4	-	COL1A1	COL1A1	1	1	Margherita Maioli
00320996	-	PubMed: Marini et al., 2007 (De Paepe, personal communication)	-	-	-	-	-	-	-	-	-	OI, OI3, OI4	-	COL1A1	COL1A1	1	1	Raymond Dalgleish

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

Global Variome shared LOVD