Disease #00764 (RCC (carcinoma, renal cell (RCC)))

Official abbreviation	RCC
Name	carcinoma, renal cell (RCC)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	155
Phenotype entries for this disease	151
Associated with 1 gene	PBRM1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2015-12-08 23:50:05 +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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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'

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155 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00100332	25800244-FamProband	PubMed: Hernandez 2015, Journal: Hernandez 2015	2-generation family, affected mother and 3 heterozygous carrier sons	F	?	Canada	-	-	-	-	left adrenalectomy and partial nephrectomy	pheochromocytoma, RCC	multifocal PHEOs, biochemical phenotype predominantly adrenergic, ccRCC; sons carrying variant had ephelides in their lips; sons (23y/22y) currently normal urinary/plasma metanephrines, unremarkable abdominal MRI except tiny right renal cyst oldest son	SDHB, TMEM127, VHL	SDHB, TMEM127	2	4	Shahida Flores
00144922	-	Journal: Qin 2014	-	M	?	-	-	-	-	-	-	RCC	Clear cell, Malignant	-	-	-	1	Gustavo Armaiz-Pena
00144923	-	Journal: Qin	-	F	?	-	-	-	-	-	-	RCC	Clear cell	-	-	-	1	Gustavo Armaiz-Pena
00144924	-	Journal: Qin 2014	-	M	-	-	-	-	-	-	-	RCC	Clear cell	-	-	-	1	Gustavo Armaiz-Pena
00154398	-	PubMed: Qin 2014	-	?	-	-	-	-	-	-	-	RCC	-	TMEM127	-	-	1	Gustavo Armaiz-Pena
00164787	-	PubMed: Qin 2010	-	M	-	-	-	-	-	-	-	RCC	-	TMEM127	TMEM127	1	1	Gustavo Armaiz-Pena
00164793	-	PubMed: Qin 2014	-	M	-	-	-	-	-	-	-	RCC	-	TMEM127	TMEM127	1	1	Gustavo Armaiz-Pena
00164794	-	PubMed: Qin 2014	-	F	-	-	-	-	-	-	-	RCC	Breast Cancer	TMEM127	TMEM127	1	1	Gustavo Armaiz-Pena
00164802	-	PubMed: Qin 2014	-	?	-	-	-	-	-	-	-	RCC	-	TMEM127	-	-	1	Gustavo Armaiz-Pena
00165162	-	PubMed: Gupta 2017	-	?	-	-	-	-	-	-	-	RCC	-	TMEM127	TMEM127	1	1	Gustavo Armaiz-Pena
00223158	-	PubMed: van Slegtenhorst, 1997, PubMed: Ali, 1998	somatic variant on wild type allele found in renal cell carcinoma of TSC patient but not in germline; germline variant (c.1888_1891del) on mutant allele also found in this renal cell carcinoma; both mutations in exon 15	?	-	-	-	-	-	-	-	RCC	-	TSC1	TSC1	1	1	Rosemary Ekong
00224416	-	PubMed: Voss, 2014	patient with advanced renal cell carcinoma; 2 TSC1 variants found in different sites within primary tumour; tissue from metastatic sites unavailable for analysis; NGS on Illumina HiSeq 2000; no known restriction site found for TSC1 c.1579C>T	?	-	-	-	-	-	-	-	RCC	-	TSC1	TSC1	2	1	Rosemary Ekong
00224417	-	PubMed: Voss, 2014	patient with advanced renal cell carcinoma; the same somatic variant found in primary tumour and metastatic sites	?	-	-	-	-	-	-	-	RCC	-	TSC1	TSC1	1	1	Rosemary Ekong
00224418	-	PubMed: Voss, 2014	patient with advanced renal cell carcinoma; TSC1 and mTOR variants found in different sites within the primary tumour; tissue from metastatic sites unavailable for analysis; NGS on Illumina HiSeq 2000; no known restriction site found for the variant	?	-	-	-	-	-	-	-	RCC	-	TSC1	TSC1	1	1	Rosemary Ekong
00224886	-	PubMed: Kwiatkowski, 2016	48 yr old patient with metastatic RCC; metastasis to lung, liver, lymph node; progressive disease; did not respond to treatment with Temsirolimus	F	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224888	-	PubMed: Kwiatkowski, 2016	61 yr old patient with metastatic RCC; metastasis to lung; partial remission; responded to treatment with Everolimus	M	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224889	-	PubMed: Kwiatkowski, 2016	51 yr old patient with metastatic RCC; metastasis to lung; partial remission; responded to treatment with Everolimus	F	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224892	-	PubMed: Kwiatkowski, 2016	49 yr old patient with metastatic RCC; progressive disease; did not respond to treatment with Temsirolimus	F	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224893	-	PubMed: Kwiatkowski, 2016	62 yr old patient with metastatic RCC; metastasis to lung; stable disease; responded to treatment with Everolimus	M	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224894	-	PubMed: Kwiatkowski, 2016	53 yr old patient with metastatic RCC; metastasis to lung, liver, lymph node; stable disease; responded to treatment with Everolimus	M	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224895	-	PubMed: Kwiatkowski, 2016	68 yr old patient with metastatic RCC; metastasis to lymph node, lung; partial remission; responded to treatment with Temsirolimus	F	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224896	-	PubMed: Kwiatkowski, 2016	64 yr old patient with metastatic RCC; stable disease; responded to treatment with Temsirolimus	M	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224897	-	PubMed: Kwiatkowski, 2016	-	M	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00224898	-	PubMed: Kwiatkowski, 2016	62 yr old patient with metastatic RCC; metastasis to liver; stable disease; responded to treatment with Everolimus	M	-	(United States)	-	-	-	-	-	RCC	metastatic RCC	TSC1	TSC1	1	1	Rosemary Ekong
00266098	Case 1	PubMed: Parilla 2018	-	F	-	United States	-	-	-	-	-	RCC	single renal lesion (HP:0005584); sporadic eosinophilic solid and cystic (ESC) renal cell carcinoma (RCC); no evidence of metastasis	TSC1, TSC2	TSC2	2	1	Rosemary Ekong
00266099	Case 2	PubMed: Parilla 2018	patient without significant medical history and no TSC	F	-	United States	-	-	-	-	-	RCC	renal mass (HP:0005584); sporadic eosinophilic solid and cystic (ESC) renal cell carcinoma (RCC)	TSC1, TSC2	TSC2	2	1	Rosemary Ekong
00274652	-	PubMed: Wu 2019	positive family history; maternal grandfather with malignant tumor (not clear); patient had brain, bone and pleural metastasis; patient deceased 63 months after diagnosis	F	?	China	-	-	-	-	-	RCC	clear cell renal cell carcinoma (HP:0006770)	BAP1, TSC2	BAP1, TSC2	2	1	Rosemary Ekong
00274653	-	PubMed: Wu 2019	no family history of renal tumours; patient alive and no recurrence at last examination	F	?	China	-	-	-	-	-	RCC	chromophobe renal cell carcinoma (ChRCC)	BRCA2, TSC2	BRCA2, TSC2	3	1	Rosemary Ekong
00274654	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC1	TSC1	1	1	Rosemary Ekong
00274655	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC1	TSC1	1	1	Rosemary Ekong
00274656	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC1	TSC1	1	1	Rosemary Ekong
00274657	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC1	TSC1	1	1	Rosemary Ekong
00274658	-	PubMed: Wu 2019	no family history of renal tumours; patient deceased 26 months after diagnosis	M	?	China	-	-	-	-	-	RCC	renal angiomyolipoma (HP:000677)	TSC1	TSC1	1	1	Rosemary Ekong
00274659	-	PubMed: Wu 2019	no family history of renal tumours; patient had metastasis in lung; patient is alive at last examination	M	?	China	-	-	-	-	-	RCC	clear cell renal cell carcinoma (HP:0006770)	TSC1	TSC1	1	1	Rosemary Ekong
00274660	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC2	TSC2	1	1	Rosemary Ekong
00274661	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC2	TSC2	1	1	Rosemary Ekong
00274662	-	PubMed: Wu 2019	patient had recurrence; patient deceased 58 months after diagnosis	F	?	China	-	-	-	-	-	RCC	renal angiomyolipoma (HP:000677); Ovarian teratoma (HP:0012226)	TSC2	TSC2	1	1	Rosemary Ekong
00274663	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC2	TSC2	1	1	Rosemary Ekong
00274664	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC2	TSC2	1	1	Rosemary Ekong
00274665	-	PubMed: Wu 2019	-	?	?	China	-	-	-	-	-	RCC	-	TSC2	TSC2	1	1	Rosemary Ekong
00274666	-	PubMed: Wu 2019	positive family history of cancers; grandfather with lung cancer, father with gastric cancer; patient deceased 13 months after diagnosis	M	?	China	-	-	-	-	-	RCC	clear cell renal cell carcinoma (HP:0006770)	TSC2	TSC2	1	1	Rosemary Ekong
00283440	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283441	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283442	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283443	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283445	-	PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283446	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283447	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283448	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283451	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283455	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283456	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283457	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283459	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283461	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283465	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283466	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283468	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283469	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283470	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283471	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283473	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283475	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283476	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283477	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283478	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283480	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283481	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283482	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283483	-	PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Johnston 2012	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283485	-	PubMed: Krishnaswamy 2009, PubMed: Bodian 2014, PubMed: Reaume 2013, PubMed: Hampel 2015, PubMed: Raikes 1976	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283488	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283489	-	PubMed: Bean 2013, PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283491	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283492	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283494	-	PubMed: Johnston 2012, PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283495	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283497	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283500	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283504	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283506	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283509	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283510	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283511	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283512	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283514	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283515	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283516	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283517	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283522	-	PubMed: Bodian 2014, PubMed: Knoll 1979, PubMed: Reaume 2013, PubMed: Hampel 2015 0, 2,	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283523	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283524	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283525	-	PubMed: Bodian 2014, PubMed: Hampel 2015, PubMed: Reaume 2013	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283527	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283528	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283531	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283532	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283533	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283535	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy
00283536	-	PubMed: Reaume 2013, PubMed: Hampel 2015	-	-	-	-	-	-	-	-	-	RCC	-	MET	MET	1	1	Global Variome, with Curator vacancy

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Global Variome shared LOVD

NPHP1 (nephronophthisis 1 (juvenile))