All individuals with variants in gene COL4A4

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.

718 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	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00091829	-	PubMed: Gross 2003	-	M	-	Germany	-	-	-	-	-	BFH;TMN	Intermitant macrohaematuria, weak kidneys.	1	1	Judy Savige
00091830	-	PubMed: Storey 2013	parents are cousin	F	yes	-	-	-	-	-	-	ATS2	12y renal failure; hearing loss; renal failure, lomerulus abnormal	2	1	Helen Storey
00091831	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	17y renal failure; hearing loss; renal failure, lomerulus abnormal	2	1	Helen Storey
00091832	-	PubMed: Storey 2013	-	M	-	-	-	-	-	-	-	ATS2	18y renal failure; hearing loss; renal failure, lomerulus abnormal	1	1	Helen Storey
00091833	-	PubMed: Storey 2013	-	M	-	-	English	-	-	-	-	ATS2	20y renal failure; hearing loss; renal failure, lomerulus abnormal	2	1	Helen Storey
00091834	-	PubMed: Dagher 2002	-	-	-	Australia	-	-	-	-	-	ATS2	21y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00091835	-	PubMed: Storey 2013	-	M	-	United Kingdom (Great Britain)	Scottish	-	-	-	-	ATS2	21y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	2	1	Helen Storey
00091836	-	PubMed: Storey 2013	-	M	-	-	-	-	-	-	-	ATS2	22y renal failure; hearing loss; renal failure, lomerulus abnormal	2	1	Helen Storey
00091837	-	PubMed: Storey 2013	-	M	-	Australia	Tasmanian, British origin	-	-	-	-	ATS2	23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	2	1	Helen Storey
00091838	-	Judy Savige	-	M	-	-	British	-	-	-	-	Healthy/Control	23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00091839	-	Judy Savige	-	M	-	-	British	-	-	-	-	Healthy/Control	23y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00091840	-	Judy Savige	-	F	-	-	British	-	-	-	-	Healthy/Control	24y renal failure; hearing loss; renal failure, glomerulus normal	1	1	Judy Savige
00091841	-	Judy Savige	-	F	-	-	British	-	-	-	-	Healthy/Control	25y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00091842	-	PubMed: Longo 2006	-	F	yes	Italy	-	-	-	-	-	ATS2	26y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	2	Judy Savige
00091843	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	ATS2	27y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00091844	-	Judy Savige	-	M	-	-	British	-	-	-	-	Healthy/Control	28y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00091845	-	PubMed: Storey 2013	-	M	-	Australia	-	-	-	-	-	ATS2	28y renal failure; renal failure	2	1	Helen Storey
00091846	-	PubMed: Storey 2013	-	F	-	Australia	British	-	-	-	-	ATS2	35y renal failure; renal failure	2	1	Helen Storey
00091847	-	Judy Savige	-	F	-	-	British	-	-	-	-	Healthy/Control	35y renal failure?; hearing loss; glomerulus abnormal	1	1	Judy Savige
00091848	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091849	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091850	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091851	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091852	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091853	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091854	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091855	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091856	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091857	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091858	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091859	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091860	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091861	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091862	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091863	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091864	-	PubMed: Badenas 2002	-	F	-	Spain	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091865	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091866	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091867	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091868	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091869	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091870	-	PubMed: Tazon Vega 2003	-	M	-	Spain	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091871	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091872	-	PubMed: Badenas 2002	-	M	-	Spain	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091873	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091874	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091875	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091876	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091877	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091878	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091879	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091880	-	PubMed: Badenas 2002	-	M	-	Spain	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091881	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091882	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	ATS2	glomerulus abnormal;	1	1	Judy Savige
00091883	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	ATS2	glomerulus abnormal;	1	1	Judy Savige
00091884	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091885	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091886	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091887	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091888	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091889	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091890	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091891	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091892	-	PubMed: Baek 2009	-	-	-	Australia	-	-	-	-	-	ATS2	glomerulus abnormal;	1	1	Judy Savige
00091893	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	1	1	Judy Savige
00091894	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	ATS2	glomerulus abnormal;	1	1	Judy Savige
00091895	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	glomerulus abnormal;	2	1	Helen Storey
00091896	-	PubMed: Storey 2013	-	M	-	-	-	-	-	-	-	ATS2	glomerulus abnormal;	2	1	Helen Storey
00091897	-	PubMed: Slajpah 2007	-	F	-	Slovenia	-	-	-	-	-	BFH;TMN	haematuria	1	1	Judy Savige
00091898	-	PubMed: Slajpah 2007	-	M	-	Slovenia	-	-	-	-	-	BFH;TMN	Haematuria	1	1	Judy Savige
00091899	-	PubMed: Slajpah 2007	-	M	-	Slovenia	-	-	-	-	-	BFH;TMN	Haematuria	1	1	Judy Savige
00091900	-	PubMed: Buzza 2003	-	M	-	China	-	-	-	-	-	BFH;TMN	haematuria, albuminuria; ; no hearing loss; renal failure	1	1	Judy Savige
00091901	-	PubMed: Buzza 2003	-	M	-	China	-	-	-	-	-	BFH;TMN	Haematuria, albuminuria; no hearing loss; renal failure	1	1	Judy Savige
00091902	-	PubMed: Gross 2003	large 4-generation family, 17 affecteds, patient D6	M	-	Germany	-	-	-	-	-	ATS2	Haematuria, proteinuria, progressive renal failure; hearing loss; no ocular phenotype; glomerulus abnormal	2	17	Judy Savige
00091903	-	PubMed: Gross 2003	large family, patient D5	F	-	Germany	-	-	-	-	-	ATS2	haematuria, proteinuria, progressive renal failure; hearing loss; no ocular phenotype	1	1	Judy Savige
00091904	-	PubMed: Lemmink 1996	-	M	-	Netherlands	-	-	-	-	-	BFH;TMN	Haematuria, proteinuria; glomerulus abnormal	2	1	Judy Savige
00091905	-	PubMed: Slajpah 2007	-	M	-	Slovenia	-	-	-	-	-	BFH;TMN	Haematuria; glomerulus abnormal	1	1	Judy Savige
00091906	-	PubMed: Slajpah 2007	-	F	-	Slovenia	-	-	-	-	-	BFH;TMN	Haematuria; glomerulus abnormal	1	1	Judy Savige
00091907	-	PubMed: Gross 2003	large family, patientsB6/B6	F;M	-	Germany	-	-	-	-	-	BFH;TMN	hearing loss	1	2	Judy Savige
00091908	-	PubMed: Storey 2013	-	F	no	Slovenia	-	-	-	-	-	ATS2	hearing loss	2	1	Helen Storey
00091909	-	PubMed: Storey 2013	-	M	-	-	-	-	-	-	-	ATS2	hearing loss; glomerulus abnormal	2	1	Helen Storey
00091910	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	hearing loss; glomerulus abnormal	2	1	Helen Storey
00091911	-	PubMed: Storey 2013	-	F	-	-	-	-	-	-	-	ATS2	hearing loss; glomerulus abnormal	1	1	Helen Storey
00091912	-	Judy Savige	-	M	-	-	British	-	-	-	-	Healthy/Control	hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00091913	-	Judy Savige	-	M	-	-	British	-	-	-	-	Healthy/Control	hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00091914	-	PubMed: Mochizuki 1994	-	F	no	Italy	-	-	-	-	-	ATS2	Micro haematuria, albuminuria, renal failure ; 18y renal failure; no hearing loss; renal failure	1	1	Judy Savige
00091915	-	(PMID:Longo 2006:16338941}	-	M	-	Italy	-	-	-	-	-	ATS2	Micro- haematuria, macro-haematuria, proteinuria, normal renal function;; no hearing loss; no ocular phenotype; glomerulus abnormal	3	1	Judy Savige
00091916	-	(PMID:Longo 2006:16338941}	-	F	yes	New Zealand	Italian	-	-	-	-	ATS2	Micro- haematuria, proteinuria; ; 16y renal failure; hearing loss; renal failure	1	1	Judy Savige
00091917	-	PubMed: Marcocci 2009	-	F	-	-	-	-	-	-	-	ATS3A	Micro-haehoturia/Proteinuria. ; glomerulus abnormal	1	1	Judy Savige
00091918	-	PubMed: Marcocci 2009	-	M	-	-	-	-	-	-	-	ATS3A	Micro-haehoturia/Proteinuria. ; glomerulus abnormal	1	1	Judy Savige
00091919	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	Micro-haematuria	1	1	Judy Savige
00091920	-	PubMed: Marcocci 2009	-	F	-	-	-	-	-	-	-	ATS3A	micro-haematuria	1	1	Judy Savige
00091921	-	PubMed: Marcocci 2009	-	F	-	-	-	-	-	-	-	ATS3A	Micro-haematuria ,proteinuria renal failure. ; renal failure	1	1	Judy Savige
00091922	-	PubMed: Mochizuki 1994	-	F	-	Algeria	-	-	-	-	-	ATS2	Micro-haematuria ; 14y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00091923	-	PubMed: Dagher 2002	-	-	yes	-	-	-	-	-	-	ATS2	Micro-haematuria ; 25y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	2	Judy Savige
00091924	-	PubMed: Longo 2002	-	M	-	Italy	-	-	-	-	-	ATS3A	Micro-haematuria proteinuria, non-progressive CRF; glomerulus abnormal	18	1	Judy Savige
00091925	-	-	-	-	-	-	-	-	-	-	-	BFH;TMN	Micro-haematuria, hypoacusis	1	1	Judy Savige
00091926	-	PubMed: Badenas 2002	-	M	-	Spain	-	-	-	-	-	BFH;TMN	Micro-haematuria, macro- haematuria episodes, mild proteinuria, normal renal function; glomerulus abnormal	1	1	Judy Savige
00091927	-	PubMed: Ozen 2001	-	M	-	Turkey	Turkish	-	-	-	-	BFH;TMN	Micro-haematuria, macro- haematuria episodes, mild proteinuria, normal renal function; hearing loss; no ocular phenotype	1	1	Judy Savige
00091928	-	PubMed: Pescucci 2004	-	M	-	-	-	-	-	-	-	ATS3A	Micro-haematuria, macro-haematuria, bilateral hypoacusis, normal renal function. ; hearing loss; glomerulus abnormal	1	1	Judy Savige

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Global Variome shared LOVD

COL4A4 (collagen, type IV, alpha 4)