All individuals with variants in gene COL4A5

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.

2261 entries on 23 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		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
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	6	1	Yu Sun
00000209	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)	2	1	Yu Sun
00080911	-	PubMed: Trujillano 2017	unaffected heterozygous carrier mother	-	-	-	-	-	-	-	-	ATS1	Alport syndrome (OMIM:301050)	1	1	Daniel Trujillano
00092353	-	PubMed: Tarpey 2009	-	-	-	-	-	-	-	-	-	MRX;IDX	-	1	1	Judy Savige
00092354	-	PubMed: Tarpey 2009	-	-	-	-	-	-	-	-	-	MRX;IDX	-	1	3	Judy Savige
00092355	-	PubMed: Tarpey 2009	-	-	-	-	-	-	-	-	-	MRX;IDX	-	1	1	Judy Savige
00092356	-	PubMed: Cruz-Robles 1999	-	M	-	Mexico	-	-	-	-	-	AS	10y renal failure; hearing loss; ocular changes; renal failure	1	1	Judy Savige
00092357	-	PubMed: Savige 2008	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092358	-	PubMed: Martin 2000	family 2 patients	F;M	-	Finland	-	-	-	-	-	AS	GBM pathology + / ?; hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; no renal failure, glomerulus abnormal	1	2	Judy Savige
00092359	-	PubMed: Tan 2010	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092360	-	PubMed: Turco 1995, OMIM:var0013	family 2 patients	F;M	-	Italy	-	-	-	-	-	AS	40 / -y renal failure; GBM pathology ? / +; hearing loss +/-; ocular abnormality +/-; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	2	Judy Savige
00092361	-	PubMed: Heiskari 1996	-	M	-	United States	European	-	-	-	-	AS	29y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00092362	-	PubMed: Lemmink 1997	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	AS	30y renal failure; hearing loss; renal failure, lomerulus abnormal	1	1	Judy Savige
00092363	-	PubMed: Plant 1999	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	AS	22y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00092364	-	PubMed: Plant 1999	-	F	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092365	-	PubMed: Renieri 1996	-	F	-	Italy	-	-	-	-	-	AS	hearing loss; no ocular phenotype; no renal failure	1	1	Judy Savige
00092366	-	PubMed: Renieri 1996	family 2 patients	F;M	-	Italy	-	-	-	-	-	AS	34 / >55y renal failure; hearing loss +/+; ocular abnormality +/-; hearing loss; ocular changes; renal failure	1	2	Judy Savige
00092367	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092368	-	PubMed: Barker 2001	-	M	-	United States	-	-	-	-	-	AS	hearing loss; renal failure, lomerulus abnormal	1	1	Judy Savige
00092369	-	PubMed: Hertz 2001	family 2 patients	M	-	Denmark	-	-	-	-	-	AS	26y renal failure; hearing loss; ocular changes; renal failure	1	2	Judy Savige
00092370	-	PubMed: Hertz 2001	family 2 patients	F;M	-	Denmark	-	-	-	-	-	AS	34 / 45y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure	1	2	Judy Savige
00092371	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	21y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092372	-	PubMed: Martin 2000 PubMed: Heiskari 1996	family 2 patients	F;M	-	Finland	-	-	-	-	-	AS	23 / -y renal failure; GBM pathology + / ?; hearing loss +/-; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	2	Judy Savige
00092373	-	PubMed: Tazon-Vega 2007	-	M	-	Spain	-	-	-	-	-	AS	23y renal failure; hearing loss; no ocular phenotype; renal failure	1	1	Judy Savige
00092374	-	PubMed: Renieri 1996	family 2 patients	F;M	-	Italy	-	-	-	-	-	AS	hearing loss -/+; ocular abnormality -/-; hearing loss; no ocular phenotype; no renal failure	1	2	Judy Savige
00092375	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	Mean Age 17.5y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092376	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	ocular changes; glomerulus abnormal	1	1	Judy Savige
00092377	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	Mean Age 48y renal failure; hearing loss; ocular changes; renal failure	1	1	Judy Savige
00092378	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092379	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092380	-	PubMed: Heiskari 1996	-	M	-	United States	European	-	-	-	-	AS	17y renal failure; hearing loss; ocular changes; renal failure	1	1	Judy Savige
00092381	-	PubMed: Guo 1995	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	AS	30y renal failure; no hearing loss; renal failure, lomerulus abnormal	2	1	Judy Savige
00092382	-	PubMed: Barker 2001	-	F	-	United States	-	-	-	-	-	AS	no hearing loss; no renal failure, glomerulus normal	1	1	Judy Savige
00092383	-	PubMed: Heiskari 1996	-	M	-	United States	European	-	-	-	-	AS	15y renal failure; hearing loss; no ocular phenotype; renal failure	1	1	Judy Savige
00092384	-	PubMed: Barker 2001	-	M	-	United States	-	-	-	-	-	AS	hearing loss; renal failure, lomerulus abnormal	1	1	Judy Savige
00092385	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	glomerulus abnormal;	1	1	Judy Savige
00092386	-	PubMed: Plant 1999	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	AS	17y renal failure; hearing loss; renal failure, lomerulus normal	1	1	Judy Savige
00092387	-	PubMed: Cheong 2000	-	M	-	Korea	-	-	-	-	-	AS	<30y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00092388	-	PubMed: Heiskari 1996	-	M	-	United States	European	-	-	-	-	AS	no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal	1	1	Judy Savige
00092389	-	PubMed: Kawai 1996	-	M	-	Japan	-	-	-	-	-	AS	no hearing loss; no ocular phenotype; glomerulus abnormal	1	1	Judy Savige
00092390	-	PubMed: Renieri 1992	-	M	-	Italy	-	-	-	-	-	AS	no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal	1	1	Judy Savige
00092391	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	19y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00092392	-	PubMed: Heiskari 1996	-	M	-	United States	European	-	-	-	-	AS	26y renal failure; hearing loss; no ocular phenotype; renal failure	1	1	Judy Savige
00092393	-	PubMed: Renieri 1996	family 2 patients	F;M	-	Italy	-	-	-	-	-	AS	19 / -y renal failure; hearing loss +/+; ocular abnormality +/-; hearing loss; ocular changes; renal failure	1	2	Judy Savige
00092394	-	PubMed: Renieri 1996	family 2 patients	F;M	-	Italy	-	-	-	-	-	AS	15 / -y renal failure; hearing loss +/-; ocular abnormality -/+; hearing loss; ocular changes; renal failure	1	2	Judy Savige
00092395	-	PubMed: Renieri 1996	-	M	-	Italy	-	-	-	-	-	AS	no hearing loss; no renal failure	1	1	Judy Savige
00092396	-	PubMed: Tazon-Vega 2007	-	M	-	Spain	-	-	-	-	-	AS	26y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092397	-	PubMed: Kawai 1996	-	M	-	Japan	-	-	-	-	-	AS	<30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00092398	-	PubMed: Plant 1999 PubMed: Boye 1995	-	M	-	-	-	-	-	-	-	AS	35y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00092399	-	PubMed: Renieri 1996	-	M	-	Italy	-	-	-	-	-	AS	Mean Age 5y renal failure; hearing loss; ocular changes; renal failure	1	1	Judy Savige
00092400	-	PubMed: Martin 1998	-	M	-	Denmark	-	-	-	-	-	AS	17y renal failure; hearing loss; ocular changes; renal failure	1	1	Judy Savige
00092401	-	PubMed: Renieri 1996	family 2 patients	F;M	-	Italy	-	-	-	-	-	AS	>16 / >51y renal failure; hearing loss +/?; ocular abnormality ?/?; hearing loss; renal failure	1	2	Judy Savige
00092402	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	33y renal failure; hearing loss; renal failure, lomerulus abnormal	1	1	Judy Savige
00092403	-	PubMed: Martin 2000	family 2 patients	F;M	-	Finland	-	-	-	-	-	AS	GBM pathology - / +; hearing loss -/-; ocular abnormality -/-; no hearing loss; no ocular phenotype; no renal failure, glomerulus abnormal	1	2	Judy Savige
00092404	-	PubMed: Martin 1998	-	M	-	United States	European	-	-	-	-	AS	no hearing loss; no ocular phenotype	1	1	Judy Savige
00092405	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	21y renal failure; hearing loss; no ocular phenotype; renal failure	1	1	Judy Savige
00092406	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	hearing loss; glomerulus abnormal	1	1	Judy Savige
00092407	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092408	-	PubMed: Tazon-Vega 2007	-	F	-	-	-	-	-	-	-	AS	no hearing loss; no ocular phenotype	1	1	Judy Savige
00092409	-	PubMed: Kawai 1996	-	M	-	Japan	-	-	-	-	-	AS	hearing loss; no ocular phenotype; glomerulus abnormal	1	1	Judy Savige
00092410	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092411	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	20y renal failure; hearing loss; ocular changes; renal failure	1	1	Judy Savige
00092412	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	24y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00092413	-	PubMed: Renieri 1996	-	M	-	Italy	-	-	-	-	-	AS	hearing loss; ocular changes	1	1	Judy Savige
00092414	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	47y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092415	-	PubMed: Tan 2009	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092416	-	PubMed: Hertz 2001 PubMed: Zhou 1992	family 3 patients (F, 2M)	F;M	-	Denmark	-	-	-	-	-	AS	29 / 37 / 41y renal failure; hearing loss +/+/+; ocular abnormality ?/?/?; hearing loss; renal failure	1	3	Judy Savige
00092417	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	41y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00092418	-	PubMed: Tazon-Vega 2007	-	M	-	Spain	-	-	-	-	-	AS	21y renal failure; hearing loss; no ocular phenotype; renal failure	1	1	Judy Savige
00092419	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	hearing loss; ocular changes	1	1	Judy Savige
00092420	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	17y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00092421	-	PubMed: Barker 2001	-	F	-	United States	-	-	-	-	-	AS	no hearing loss; no renal failure, glomerulus normal	1	1	Judy Savige
00092422	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	23y renal failure; hearing loss; renal failure, lomerulus abnormal	1	1	Judy Savige
00092423	-	PubMed: Tan 2010	-	M	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092424	-	PubMed: Renieri 1996	family 2 patients	F;M	-	Italy	-	-	-	-	-	AS	16 / -y renal failure; hearing loss +/+; ocular abnormality -/-; hearing loss; no ocular phenotype; renal failure	1	2	Judy Savige
00092425	-	PubMed: Hertz 2001	-	M	-	Denmark	-	-	-	-	-	AS	19y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092426	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	27y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092427	-	PubMed: Inoue 1999	-	M	-	Japan	-	-	-	-	-	AS	glomerulus abnormal;	1	1	Judy Savige
00092428	-	PubMed: Hertz 2001	family 2 patients	M	-	Denmark	-	-	-	-	-	AS	31 / 39y renal failure; hearing loss +/+; ocular abnormality +/+; hearing loss; ocular changes; renal failure	1	2	Judy Savige
00092429	-	PubMed: Hertz 2001	-	M	-	Denmark	-	-	-	-	-	AS	30y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092430	-	PubMed: Barker 2001	-	M	-	United States	-	-	-	-	-	AS	hearing loss; renal failure, lomerulus abnormal	1	1	Judy Savige
00092431	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	24y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092432	-	PubMed: Lemmink 1997	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	AS	23y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092433	-	PubMed: Hertz 2001	-	M	-	Denmark	-	-	-	-	-	AS	>16y renal failure; hearing loss; renal failure	1	1	Judy Savige
00092434	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	26y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00092435	-	PubMed: Barker 2001	-	M	-	United States	-	-	-	-	-	AS	no hearing loss; no renal failure, glomerulus abnormal	1	1	Judy Savige
00092436	-	PubMed: Hertz 2001	family 2 patients	M	-	Denmark	-	-	-	-	-	AS	38 / 60y renal failure; hearing loss +/+; ocular abnormality ?/?; hearing loss; renal failure	2	2	Judy Savige
00092437	-	PubMed: Barker 2001	-	F	-	United States	-	-	-	-	-	AS	no hearing loss; no renal failure, glomerulus normal	1	1	Judy Savige
00092438	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	hearing loss; glomerulus abnormal	1	1	Judy Savige
00092439	-	PubMed: Inoue 1999	-	M	-	Japan	-	-	-	-	-	AS	<30y renal failure; renal failure, lomerulus abnormal	1	1	Judy Savige
00092440	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	hearing loss; no renal failure	1	1	Judy Savige
00092441	-	PubMed: Plant 1999	-	F	-	-	-	-	-	-	-	AS	no renal failure;	1	1	Judy Savige
00092442	-	PubMed: Plant 1999 PubMed: Boye 1995	-	M	-	-	-	-	-	-	-	AS	20y renal failure; no hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige
00092443	-	PubMed: Plant 1999 PubMed: Boye 1995	-	M	-	-	-	-	-	-	-	AS	hearing loss; ocular changes; no renal failure, glomerulus abnormal	1	1	Judy Savige
00092444	-	PubMed: Plant 1999 PubMed: Boye 1995	-	M	-	-	-	-	-	-	-	AS	19y renal failure; hearing loss; ocular changes; renal failure, lomerulus abnormal	1	1	Judy Savige
00092445	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	no renal failure, glomerulus abnormal;	1	1	Judy Savige
00092446	-	PubMed: Nagel 2005	-	-	-	-	-	-	-	-	-	AS	-	1	1	Judy Savige
00092447	-	PubMed: Knebelmann 1996	-	-	-	France	-	-	-	-	-	AS	27y renal failure; hearing loss; renal failure, lomerulus abnormal	1	1	Judy Savige
00092448	-	PubMed: Plant 1999	-	M	-	-	-	-	-	-	-	AS	23y renal failure; hearing loss; ocular changes; renal failure	1	1	Judy Savige
00092449	-	PubMed: Kawai 1996	-	F	-	Japan	-	-	-	-	-	AS	>30y renal failure; hearing loss; no ocular phenotype; renal failure, lomerulus abnormal	1	1	Judy Savige

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		Next ›	Last »

Global Variome shared LOVD

COL4A5 (collagen, type IV, alpha 5)