Disease #01361 (BFH;TMN (hematuria, benign, familial))

Official abbreviation	BFH;TMN
Name	hematuria, benign, familial
OMIM ID	-
Inheritance	Autosomal dominant
Individuals reported having this disease	203
Phenotype entries for this disease	200
Associated with 2 genes	COL4A3, COL4A4
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-02-15 12:39:15 +01:00 (CET)

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.

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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	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'
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!=""	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
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>=	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'

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203 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00091304	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091306	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091310	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091315	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091318	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	no hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091319	-	PubMed: Hoefele 2010	-	M	-	Italy	-	-	-	-	-	BFH;TMN	Paternal Grandfather ESRD at 70; no hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091322	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091323	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091324	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091325	-	PubMed: Hoefele 2010	-	M	-	Italy	-	-	-	-	-	BFH;TMN	no hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091326	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091331	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091332	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091335	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091336	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091340	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091346	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091347	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091351	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091352	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091353	-	PubMed: Longo 2002	-	-	-	Italy	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091354	-	PubMed: Rana 2007	-	-	-	Australia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091355	-	PubMed: Rana 2007	-	-	-	Australia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091357	-	PubMed: Tazon Vega 2003	-	F	-	Spain	-	-	-	-	-	BFH;TMN	Micro-haematuria.; no hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091359	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091362	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091363	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091364	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	Hematuria	COL4A3	COL4A3	1	1	Judy Savige
00091366	-	PubMed: Wang 2004	-	F	-	Australia	-	-	-	-	-	BFH;TMN	micro-hematuria; no hearing loss; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091370	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091371	-	PubMed: Wang 2004	-	-	-	Australia	-	-	-	-	-	BFH;TMN	micro-hematuria; no hearing loss; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091372	-	PubMed: Wang 2004	-	-	-	Australia	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091375	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091376	-	PubMed: Wang 2004	-	-	-	Australia	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091377	-	PubMed: Rana 2007	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091379	-	PubMed: Wang 2004	-	-	-	Australia	-	-	-	-	-	BFH;TMN	micro-haematuria; no hearing loss; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091389	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091391	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	micro-hematuria; no hearing loss; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091392	-	PubMed: Wang 2004	-	-	-	Italy	-	-	-	-	-	BFH;TMN	micro-haematuria, proteinuria.; no hearing loss; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091393	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	Micro-haematuria, Serum creatinine: 0.8mg/dL. ; no hearing loss; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091395	-	PubMed: Slajpah 2007	-	-	-	Slovenia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091400	-	PubMed: Longo 2002	adopted, family not studied	F	-	Italy	-	-	-	-	-	BFH;TMN	TBMN (ADAS?); micro-haematuria, proteinuria;; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091401	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091404	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	Benign Haematuria; no hearing loss; glomerulus abnormal;	COL4A3	COL4A3	1	1	Judy Savige
00091407	-	PubMed: Slajpah 2007	-	F	-	Slovenia	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091420	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091438	-	PubMed: Badenas 2002	-	-	-	Spain	-	-	-	-	-	BFH;TMN	no hearing loss; glomerulus abnormal	COL4A3	COL4A3	1	1	Judy Savige
00091439	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091451	-	PubMed: Wang 2004	-	-	-	-	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Judy Savige
00091461	-	PubMed: Hoefele 2010	-	M	-	Italy	-	-	-	-	-	BFH;TMN	no hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091462	-	PubMed: Hoefele 2010	-	M	-	Italy	-	-	-	-	-	BFH;TMN	no hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091463	-	PubMed: Hoefele 2010	-	M	-	Italy	-	-	-	-	-	BFH;TMN	no hearing loss; no ocular phenotype;	COL4A3	COL4A3	1	1	Judy Savige
00091509	-	-	COL4A3 variant present in mother (haematuria), sister (haematuria, mild proteinuria and FSGS), brother (ESRF and FSGS), daughter (haematuria).	F	-	-	Britain/Spain	-	-	-	-	BFH;TMN	Microscopic haematuria and <1g/day proteinuria. Biopsy shows FSGS and 20% tubular atrophy. EM: Foot process effacement, few mesangial electron dense desposits, GBMs very thin but thick in places with splitting.; no hearing loss; no ocular phenotype; glomerulus abnormal	COL4A3	COL4A3	3	1	Daniel Gale
00091510	-	+	Additional relatives with deafness and haematuria.	F	-	-	British	-	-	-	-	BFH;TMN	Microscopic haematuria and deafness in Mother and son. Biopsy in son shows TBMN.; hearing loss;	COL4A3	COL4A3	2	1	Daniel Gale
00091666	-	-	-	F	-	Hungary	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Gabor Kovacs
00091667	-	-	-	M	-	Hungary	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Gabor Kovacs
00091668	-	-	-	F	-	Hungary	-	-	-	-	-	BFH;TMN	-	COL4A3	COL4A3	1	1	Gabor Kovacs
00091829	-	PubMed: Gross 2003	-	M	-	Germany	-	-	-	-	-	BFH;TMN	Intermitant macrohaematuria, weak kidneys.	COL4A4	COL4A4	1	1	Judy Savige
00091848	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091849	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091850	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091851	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091852	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091853	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091854	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091855	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091856	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091857	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091858	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091859	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091860	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091861	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091862	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091863	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091864	-	PubMed: Badenas 2002	-	F	-	Spain	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091865	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091866	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091867	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091868	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091869	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091870	-	PubMed: Tazon Vega 2003	-	M	-	Spain	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091871	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091872	-	PubMed: Badenas 2002	-	M	-	Spain	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091873	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091874	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091875	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091876	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091877	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091878	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091879	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091880	-	PubMed: Badenas 2002	-	M	-	Spain	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091881	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091884	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091885	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091886	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091887	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091888	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091889	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091890	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige
00091891	-	PubMed: Baek 2009	-	-	-	Korea	-	-	-	-	-	BFH;TMN	glomerulus abnormal;	COL4A4	COL4A4	1	1	Judy Savige

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Global Variome shared LOVD

BDNF (brain-derived neurotrophic factor)