All individuals with variants in gene PKD1

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.

406 entries on 5 pages. Showing entries 1 - 100.

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

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00017058	-	PubMed: Peral 1997	-	?	-	United Kingdom (Great Britain)	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00017059	-	PubMed: Peral 1997	4-generation family	?	-	United Kingdom (Great Britain)	-	-	-	-	PKD1	ESRD onset 53y, affected brother/father died at 46y/42y, niece with renal cysts available for study	1	1	Johan den Dunnen
00017062	-	PubMed: Peral 1997	large family, 3-generation ADPKD, proband with 5 affected children	M	no	United Kingdom (Great Britain)	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00017063	-	PubMed: Peral 1997	positive family history	M	no	United Kingdom (Great Britain)	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00017932	-	PubMed: European PKD Consortium 1994	3-generation family, 34 affecteds	-	no	? (unknown)	-	-	-	-	PKD1	-	1	4	Johan den Dunnen
00017933	-	PubMed: European PKD Consortium 1994	3-generation family, 1 affected	?	no	? (unknown)	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00017934	-	PubMed: Turco 1995	3-generation family, 8 affecteds	-	no	Italy	-	-	-	-	PKD1	-	1	8	Johan den Dunnen
00017935	-	PubMed: Peral 1996	3 generations; 3 affected ind.; 4 unaffected ind. available for linkage analysis. Clin. info available 5 patients (2 now deceased);	?	?	United Kingdom (Great Britain)	-	-	-	-	PKD1	3 in generation I age onset ESDR 57y, 54y, and 53y; generation II raised SC levels: 103 51y, 253 46y	1	5	Johan den Dunnen
00017936	-	PubMed: Peral 1996	4 generation family, 3 affected cousins	?	?	(United Kingdom (Great Britain))	-	-	-	-	PKD1	1 ESRD at 61y, 1 raised SC of 153 at 58y, 1 has a normal SC level of 66 at 43y.	1	3	Johan den Dunnen
00017937	-	PubMed: Peral 1996	2 generation family, 3 affected + 2 unaffected subjects.	?	?	United Kingdom (Great Britain)	-	-	-	-	PKD1	Age ESRD 49y in affected mother (now deceased) and 42y in son. 2nd affected son has polycystic kidneys diagnosed on ultrasound.	1	1	Johan den Dunnen
00017938	-	PubMed: Peral 1996	5 generations; 17 samples of at risk objects.	?	?	United Kingdom (Great Britain)	-	-	-	-	PKD1	Age at death: generation II: 42y + 58y, Generation III: 44y, 55y, 56y, 61y, no ESRD. Age at ESRD: Generation II: 55y, Generation III: 65y, Generation IV: 51y, 48y. Generation II: 1 subject is approaching renal failure at 63y, SC level of 529. Generation IV: 2 ind. have elevated SC levels of 309 (53 y) and 326 (49y), 3 ind. in generation V have normal SC levels; 78 at 26y, 87 at 28y, 91 at 33y.	1	17	Johan den Dunnen
00017939	-	PubMed: Peral 1996	4 generation family; 5 affected and 2 unaffected subjects available for study.	?	?	? (unknown)	-	-	-	-	PKD1	2 sub. reached renal failure at 61y (gen II) and 45y (gen III). 2 sub from gen III have near normal (90 at 47y) or significantly elevated SC levels (177 at 49y). 2 sub from gen IV have SC levels of 89 and 82 at 28y and 21y.	1	1	Johan den Dunnen
00017941	-	PubMed: Peral 1996	3 generation family; dizygotic twin (M/F), unaffected (grand)parents	?	?	(United Kingdom (Great Britain))	-	-	-	-	PKD1	28y:bilateral, multiple renal cysts were detected in the father, asymptomatic and normal renal size + function; III2 is now 6y: kidneys continue to be enlarged (>95th centile), multiple cysts, since 2y: hypertensive renal function remains normal.	1	1	Johan den Dunnen
00017944	-	PubMed: Peral 1997	positive family history but only living affected member	F	no	United Kingdom (Great Britain)	-	-	-	-	PKD1	ESRD onset 53y; affected father, grandfather, cousin, great uncle had died at 48y, 63y, 43y, 60y	1	1	Johan den Dunnen
00017945	-	PubMed: Peral 1997	-	?	no	United Kingdom (Great Britain)	-	-	-	-	PKD1	ESRD onset 47y, affected sister and three children, ages 28y, 23y and 22y with renal cysts but normal renal function	1	1	Johan den Dunnen
00017948	-	PubMed: Peral 1997	positive family history, MZ twin daughters (4y) few cysts in each kidney	M	?	United Kingdom (Great Britain)	-	-	-	-	PKD1	33y elevated blood pressure, chronic renal disease; MZ twin daughters (4y) few cysts in each kidney, organs not enlarged, twins remained normotensive	1	1	Johan den Dunnen
00017949	-	PubMed: Peral 1997	negative family history	?	-	United Kingdom (Great Britain)	-	-	-	-	PKD1	ESRD onset 57y, two daughters negative renal ultrasounds (37y and 34y)	1	1	Johan den Dunnen
00017950	-	PubMed: Peral 1997	-	?	-	United Kingdom (Great Britain)	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00017954	-	PubMed: Watnick 1997	3-generation family, individual has affected carrier brother, daughter, niece	?	-	(United States)	-	-	-	-	PKD1	-	1	4	Johan den Dunnen
00017955	FamJHU086	PubMed: Watnick 1997	-	?	-	United States	German	-	-	-	PKD1	-	5	1	Johan den Dunnen
00017956	-	PubMed: Watnick 1997	-	?	-	(United States)	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00017957	-	PubMed: Watnick 1997	-	?	-	United States	-	-	-	-	PKD1	-	2	1	Johan den Dunnen
00017960	FamJHU273	PubMed: Watnick 1997	4-generation family, 7 affecteds	?	-	United States	-	-	-	-	PKD1	-	6	7	Johan den Dunnen
00017961	-	PubMed: Roelfsema 1997	-	?	-	Netherlands	-	-	-	-	PKD1	-	1	4	Johan den Dunnen
00017962	-	PubMed: Roelfsema 1997	-	?	-	Netherlands	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00017963	-	PubMed: Roelfsema 1997	-	?	-	Netherlands	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00017964	-	PubMed: Roelfsema 1997	large multi-generation family (>75 individuals) probably linked to amily 133	?	-	Netherlands	-	-	-	-	PKD1	-	1	10	Johan den Dunnen
00017965	-	PubMed: Roelfsema 1997	4-generation family, 10 affecteds	-	no	Netherlands	-	-	-	-	PKD1	-	1	10	Johan den Dunnen
00017966	-	PubMed: Roelfsema 1997	multi-generation family	-	no	Netherlands	-	-	-	-	PKD1	-	1	5	Johan den Dunnen
00017967	-	PubMed: Roelfsema 1997	multi-generation family	-	no	Netherlands	-	-	-	-	PKD1	-	1	4	Johan den Dunnen
00018043	-	PubMed: Rossetti 2001	-	?	-	? (unknown)	-	-	-	-	PKD1	-	1	3	Johan den Dunnen
00018062	-	PubMed: Rossetti 2001	-	?	-	? (unknown)	-	-	-	-	PKD1	-	1	7	Johan den Dunnen
00018063	-	PubMed: Rossetti 2001	-	?	-	? (unknown)	-	-	-	-	PKD1	-	1	2	Johan den Dunnen
00018064	-	PubMed: Rossetti 2001	family, 2 affecteds	?	-	? (unknown)	-	-	-	-	PKD1	family history of PKD	1	2	Johan den Dunnen
00018315	-	PubMed: Tsukamoto 2008	mother of NPHP patient	F	no	Japan	-	-	-	-	PKD1	-	1	1	Johan den Dunnen
00032340	-	PubMed: Slavotinek 2015, Journal: Slavotinek 2015	patient, unaffected heterozygous carrier parents	-	?	United States	-	00y07m	-	-	?	see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis, ..	1	1	Johan den Dunnen
00050133	-	-	large 4-generation family, 3 affected	M	no	Italy	white	-	-	-	PKD1	prevalence of cerebrovascular disease	2	3	Paola Carrera
00058842	-	Carrera et al., submitted	large 4-generation family, 3 affecteds	M	no	Italy	white	-	contributing lab 1	-	PKD1	prevalence of cerebrovascular disease	2	1	Paola Carrera
00058843	-	Carrera et al., submitted	4-generation family, 5 affected	M	no	Italy	white	-	contributing lab 1	maintenance therapy	PKD1	-	1	1	Paola Carrera
00058844	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	maintenance therapy	PKD	-	1	1	Paola Carrera
00058845	-	Carrera et al., submitted	large 5-generation family, 13 affecteds	M	-	Italy	white	-	contributing lab 1	renal transplantation	PKD1	-	1	1	Paola Carrera
00058846	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 2	-	PKD1	-	1	1	Paola Carrera
00058847	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058848	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058849	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	2	1	Paola Carrera
00058850	-	Carrera et al., submitted	large 5-generation family, 13 affecteds	F	-	Italy	white	-	contributing lab 1	-	PKD1	cerebral aneurysm	1	1	Paola Carrera
00058851	-	Carrera et al., submitted	large 4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD	no aneurysm	2	1	Paola Carrera
00058852	-	Carrera et al., submitted	large 4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058853	-	Carrera et al., submitted	large 4-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD	-	2	1	Paola Carrera
00058854	-	Carrera et al., submitted	3-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058855	-	Carrera et al., submitted	4-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD	-	1	1	Paola Carrera
00058856	-	Carrera et al., submitted	?	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058860	-	Carrera et al., submitted	4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058861	-	Carrera et al., submitted	4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058862	-	Carrera et al., submitted	3-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	3	1	Paola Carrera
00058863	-	Carrera et al., submitted	?	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058864	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	2	1	Paola Carrera
00058866	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	2	1	Paola Carrera
00058867	-	Carrera et al., submitted	large 4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058868	-	Carrera et al., submitted	large 4-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058869	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058870	-	Carrera et al., submitted	3-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	3	1	Paola Carrera
00058871	-	Carrera et al., submitted	4 generation family	M	no	Italy	white	-	contributing lab 10	renal transplantation	PKD	age at ESRD 24y; cerebral aneurysm	1	1	Paola Carrera
00058872	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058873	-	Carrera et al., submitted	large 4-generation family	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	2	1	Paola Carrera
00058874	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD	-	2	1	Paola Carrera
00058875	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	2	1	Paola Carrera
00058876	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	hypertension 120/85	1	1	Paola Carrera
00058877	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058878	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058879	-	Carrera et al., submitted	3-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	2	1	Paola Carrera
00058880	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058881	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	5	1	Paola Carrera
00058882	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	3	1	Paola Carrera
00058883	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	2	1	Paola Carrera
00058884	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD	-	3	1	Paola Carrera
00058885	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	1	1	Paola Carrera
00058886	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	no aneurysm	1	1	Paola Carrera
00058887	-	Carrera et al., submitted	-	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058888	-	Carrera et al., submitted	?	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	2	1	Paola Carrera
00058889	-	Carrera et al., submitted	2-generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	2	1	Paola Carrera
00058890	-	Carrera et al., submitted	large 2-generation family	M	-	Italy	white	-	contributing lab 1	dyalisis	PKD1	-	1	1	Paola Carrera
00058891	-	Carrera et al., submitted	?	F	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058892	-	Carrera et al., submitted	large-3 generation family	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058893	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	1	1	Paola Carrera
00058894	-	Carrera et al., submitted	-	M	-	Italy	white	-	contributing lab 1	-	PKD1	-	3	1	Paola Carrera
00058895	-	Carrera et al., submitted	large-3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	2	1	Paola Carrera
00058896	-	Carrera et al., submitted	large-3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	1	1	Paola Carrera
00058897	-	Carrera et al., submitted	large-3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	2	1	Paola Carrera
00058898	-	Carrera et al., submitted	3 generation family	F	-	Philippines	asian	-	contributing lab 3	-	PKD1	-	2	1	Paola Carrera
00058899	-	Carrera et al., submitted	3 generation family	M	-	Congo	african	-	contributing lab 3	-	PKD	-	2	1	Paola Carrera
00058900	-	Carrera et al., submitted	3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	1	1	Paola Carrera
00058901	-	Carrera et al., submitted	3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	2	1	Paola Carrera
00058902	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	2	1	Paola Carrera
00058903	-	Carrera et al., submitted	3 generation family	M	-	Italy	white	-	contributing lab 3	-	PKD1	-	2	1	Paola Carrera
00058904	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 4	-	PKD1	-	1	1	Paola Carrera
00058905	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 4	-	PKD1	-	1	1	Paola Carrera
00058906	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	2	1	Paola Carrera
00058907	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 3	-	PKD1	-	1	1	Paola Carrera
00058908	-	Carrera et al., submitted	3 generation family	F	-	Italy	white	-	contributing lab 5	-	PKD1	-	2	1	Paola Carrera

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

Global Variome shared LOVD

PKD1 (polycystic kidney disease 1 (autosomal dominant))