All individuals with variants in gene COL4A3

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.

696 entries on 7 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00018452	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	-	-	-	NPHS	congenital nephrotic syndrome, haematuria	1	1	Elisabet Ars Criach
00018453	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	-	-	-	NPHS	-	1	1	Elisabet Ars Criach
00018844	-	PubMed: Bullich 2015, Journal: Bullich 2015	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Elisabet Ars Criach
00091300	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091301	-	PubMed: Longo 2002	-	F	-	Italy	-	-	-	-	-	ATS2	Micro-haematuria, proteinuria. CRF; hearing loss; glomerulus abnormal;	2	1	Judy Savige
00091302	-	PubMed: Longo 2002	-	M	-	Italy	-	-	-	-	-	ATS3A	Micro-haematuria, proteinuria.; no hearing loss; no ocular phenotype;	1	1	Judy Savige
00091303	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	ATS2	hearing loss; abnormal ocular	2	1	Judy Savige
00091304	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091305	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	?	-	1	1	Judy Savige
00091306	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091307	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	26	Judy Savige
00091308	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091309	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091310	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091311	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091312	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	?	-	1	1	Judy Savige
00091313	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091314	-	PubMed: Voskarides 2007	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	?	-	1	1	Judy Savige
00091315	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091316	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091317	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091318	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	no hearing loss; no ocular phenotype;	1	1	Judy Savige
00091319	-	PubMed: Hoefele 2010	-	M	-	Italy	-	-	-	-	-	BFH;TMN	Paternal Grandfather ESRD at 70; no hearing loss; no ocular phenotype;	1	1	Judy Savige
00091320	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	?	-	1	1	Judy Savige
00091321	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	?	-	1	1	Judy Savige
00091322	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091323	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091324	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091325	-	PubMed: Hoefele 2010	-	M	-	Italy	-	-	-	-	-	BFH;TMN	no hearing loss; no ocular phenotype;	1	1	Judy Savige
00091326	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091327	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091328	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	14	Judy Savige
00091329	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Judy Savige
00091330	-	PubMed: Voskarides 2007	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	?	-	1	1	Judy Savige
00091331	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091332	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091333	-	PubMed: Voskarides 2007	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	?	-	1	1	Judy Savige
00091334	-	PubMed: Heidet 2001	-	F;M	-	-	-	-	-	-	-	ATS2	20y / 25y renal failure; renal failure;	2	1	Judy Savige
00091335	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091336	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091337	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091338	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	?	-	1	1	Judy Savige
00091339	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	11	Judy Savige
00091340	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091341	-	PubMed: Voskarides 2007	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	?	-	1	1	Judy Savige
00091342	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091343	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091344	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	10	Judy Savige
00091345	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091346	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091347	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091348	-	PubMed: Van der Loop (2000) Kidney Int 58, 1870	-	-	-	United Kingdom (Great Britain)	Irish	-	-	-	-	ATS3A	Micro-haematuria, proteinuria; 35y renal failure; hearing loss; renal failure;	1	1	Judy Savige
00091349	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	5	Judy Savige
00091350	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091351	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091352	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091353	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091354	-	PubMed: Rana 2007	-	-	-	Australia	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091355	-	PubMed: Rana 2007	-	-	-	Australia	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091356	-	PubMed: Tazon Vega 2003	consanguineous	M	-	Spain	-	-	-	-	-	ATS2	37y renal failure; hearing loss; no ocular phenotype; renal failure	1	1	Judy Savige
00091357	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	BFH;TMN	Micro-haematuria.; no hearing loss; no ocular phenotype;	1	1	Judy Savige
00091358	-	PubMed: Rana 2007	-	M	-	Italy	-	-	-	-	-	ATS2	hearing loss; abnormal ocular	1	1	Judy Savige
00091359	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091360	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091361	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091362	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091363	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091364	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	Hematuria	1	1	Judy Savige
00091365	-	PubMed: Longo 2006	consanguineous	M	-	-	Iraq;Jewish	-	-	-	-	ATS2	Micro-haematuria, proteinuria. Type III Spinal Muscular Atrophy; 15y renal failure; hearing loss; abnormal ocular; renal failure	1	1	Judy Savige
00091366	-	PubMed: Wang 2004	-	F	-	Australia	-	-	-	-	-	BFH;TMN	micro-hematuria; no hearing loss; glomerulus abnormal;	1	1	Judy Savige
00091367	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091368	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	35	Judy Savige
00091369	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091370	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091371	-	PubMed: Wang 2004	-	-	-	Australia	-	-	-	-	-	BFH;TMN	micro-hematuria; no hearing loss; glomerulus abnormal;	1	1	Judy Savige
00091372	-	PubMed: Wang 2004	-	-	-	Australia	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091373	-	PubMed: Hou 2007	-	M	-	China	Han chinese	-	-	-	-	ATS2	haematuria proteinuria; 28y renal failure; hearing loss; abnormal ocular; renal failure; glomerulus abnormal	2	1	Judy Savige
00091374	-	PubMed: Heidet 2001	-	F	-	-	-	-	-	-	-	ATS2	23y renal failure; renal failure;	2	1	Judy Savige
00091375	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091376	-	PubMed: Wang 2004	-	-	-	Australia	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	1	1	Judy Savige
00091377	-	PubMed: Rana 2007	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091378	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091379	-	PubMed: Wang 2004	-	-	-	Australia	-	-	-	-	-	BFH;TMN	micro-haematuria; no hearing loss; glomerulus abnormal;	1	1	Judy Savige
00091380	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	ATS2	38y renal failure; no hearing loss; no ocular phenotype; renal failure	1	1	Judy Savige
00091381	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091382	-	PubMed: Tazon Vega 2003	-	-	-	Spain	-	-	-	-	-	?	-	1	1	Judy Savige
00091383	-	PubMed: Voskarides 2007	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	?	-	1	1	Judy Savige
00091384	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091385	-	PubMed: Voskarides 2007	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	ATS2	Microscopic hematuria.	1	3	Judy Savige
00091386	-	PubMed: Pierides 2009	-	-	-	Cyprus	Greek-Cypriot	-	-	-	-	ATS2	progressive kidney failure	1	4	Judy Savige
00091387	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091388	-	PubMed: Heidet 2001	-	-	-	-	-	-	-	-	-	ATS2	-	1	2	Judy Savige
00091389	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091390	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	ATS2	-	1	1	Judy Savige
00091391	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	micro-hematuria; no hearing loss; glomerulus abnormal;	1	1	Judy Savige
00091392	-	PubMed: Wang 2004	-	-	-	Italy	-	-	-	-	-	BFH;TMN	micro-haematuria, proteinuria.; no hearing loss; glomerulus abnormal;	1	1	Judy Savige
00091393	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	Micro-haematuria, Serum creatinine: 0.8mg/dL. ; no hearing loss; glomerulus abnormal;	1	1	Judy Savige
00091394	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	ATS2	no hearing loss; no ocular phenotype;	2	1	Judy Savige
00091395	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	1	1	Judy Savige
00091396	-	PubMed: Pescucci 2004	-	M	-	Italy	-	-	-	-	-	ATS3A	Micro-haematuria, proteinuria. CRF.; hearing loss; glomerulus abnormal;	1	1	Judy Savige

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Global Variome shared LOVD

COL4A3 (collagen, type IV, alpha 3 (Goodpasture an...))