All individuals with variants in gene SMARCB1

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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.

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Gender: The gender of the reported individual.
All options:

? = Unknown
F = Female
M = Male
rF = Raised as female
rM = Raised as male

Geographic origin: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.

Geographic origin: The second geographic origin of the individual (when parents are from different regions) (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.

Population: Additional information on the individual's population.

Consanguinity: Indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

? = Unknown
no = Non-consanguineous parents
yes = Consanguineous parents

Remarks: Remarks about the individual.

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.

83 entries on 1 page. Showing entries 1 - 83.

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Individual ID	Reference	Gender	Geographic origin	Geographic origin	Population	Consanguinity	Remarks	Disease	Phenotype details	Variants	Panel size	Owner
00015301	-	F	-	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016336	-	F	Rizolimilio, Aigio	Valtetsiniko	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016373	-	F	Athens	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016439	-	F	Crete	-	Greek	no	-	OVCA	-	1	2	Despoina Kalfakakou
00016448	-	F	Pontus	Evia	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016481	-	F	Sparti	Agios Petros, Cynuria	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016490	-	F	Filiatra, Messinia	-	Greek	no	-	BrCa	-	2	1	Despoina Kalfakakou
00016667	-	F	Corfu	Izmir	Greek	no	-	BrCa, TRC	-	1	2	Despoina Kalfakakou
00016706	-	F	Aigaleo	-	Greek	no	-	BrCa	-	1	3	Despoina Kalfakakou
00016803	-	F	-	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016837	-	F	Tripoli	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016859	-	F	Stolos, Kynouria	Elaiochorio, Kynouria	Greek	no	-	BrCa, ColPol, SkCa, TRC	-	1	1	Despoina Kalfakakou
00016938	-	F	Asia Minor	Elis	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00016953	-	F	Andros	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017034	-	F	Pyrgos, Elis	Crete	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017209	-	F	Vlachorafti, Arcadia	Pyrgos, Diro, Laconia	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017213	-	F	Heraklion	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017240	-	F	Mani	-	Greek	no	-	BrCa	-	2	1	Despoina Kalfakakou
00017268	-	F	Izmir	Kos	Greek	no	-	BrCa, SkCa	-	1	1	Despoina Kalfakakou
00017281	-	F	Asia Minor	Evrytania	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017298	-	F	Asia Minor	Oreini Nafpaktia	Greek	no	-	BrCa, CMM2	-	1	1	Despoina Kalfakakou
00017325	-	F	Arta	Athens	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017410	-	F	Elbasan, Albania	-	Albanian	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017527	-	F	Corinth	Evia	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017538	-	F	Chania	-	Greek	no	-	BrCa	-	1	3	Despoina Kalfakakou
00017544	-	F	Serres	Alexandroupoli	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017772	-	F	Aghios Nicolaos	Kritsa	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017779	-	F	Kilkis	Serres	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017794	-	F	Lemnos	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017809	-	F	Filiates, Thesprotia	Kanalaki, Preveza	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017867	-	F	Thesprotia	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017881	-	F	Kiato, Corinth	Throfari, Corinth	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017892	-	F	Levaia, Florina	Asia Minor	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017899	-	F	Alexandria, Egypt	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017931	-	F	Kefalonia	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017958	-	F	Pili, Trikala	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017976	-	F	Koynina, Aigio	Kerinia, Aigio	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00017983	-	F	Pyrgos, Elis	-	Greek	no	-	BrCa	-	1	1	Despoina Kalfakakou
00019295	-	F	Thessaloniki	Kavala	Greek	no	-	Healthy/Control	-	1	1	Despoina Kalfakakou
00019463	-	F	Heraklion	-	Greek	no	-	Healthy/Control	-	1	1	Despoina Kalfakakou
00019826	-	M	Drama	-	Greek	no	-	CRC, Polyposis	-	1	1	Despoina Kalfakakou
00019863	-	M	Pyrgos, Laconia	-	Greek	no	-	ColPol, CRC, GaPol	-	1	1	Despoina Kalfakakou
00020038	-	M	Trikeri, Volos	Volos	Greek	no	-	ColPol, CRC	-	1	1	Despoina Kalfakakou
00020088	-	M	Kalamata	Sparti	Greek	no	-	ColPol	-	1	1	Despoina Kalfakakou
00020130	-	M	Albania	-	Albanian	no	-	-	-	1	1	Despoina Kalfakakou
00020149	-	F	Kilada, Argolis	-	Greek	no	-	-	-	1	1	Despoina Kalfakakou
00020205	-	F	Proti, Serres	Agiasos, Lesbos	Greek	no	-	-	-	1	1	Despoina Kalfakakou
00020212	-	F	Armenia	Pontus	Armenian-Greek	no	-	-	-	1	1	Despoina Kalfakakou
00020411	-	M	Thiva	-	Greek	no	-	PNCA2	-	2	1	Despoina Kalfakakou
00020466	-	M	Pontus	-	Greek	no	-	PrCa	-	1	1	Despoina Kalfakakou
00020523	-	F	Kanalia, Magnesia	Phylace, Magnesia	Greek	no	-	RCC	-	1	1	Despoina Kalfakakou
00020554	-	M	Karditsa	-	Greek	no	-	RCC	-	1	1	Despoina Kalfakakou
00020679	-	M	-	-	Greek	no	-	-	-	1	1	Despoina Kalfakakou
00020707	-	M	-	-	Greek	no	-	-	-	1	1	Despoina Kalfakakou
00020768	-	M	Chalkidiki	-	Greek	no	-	AoVCa	-	1	1	Despoina Kalfakakou
00020803	-	F	Livadia	Petroupoli, Attika	Greek	no	-	AGCa, TRC	-	1	1	Despoina Kalfakakou
00020903	-	F	Albania	-	Albanian	no	-	OVCA, RMSE2	-	1	1	Despoina Kalfakakou
00020949	-	M	Astros, Kynouria	Amfilochia	Greek	no	-	Pheo	-	1	1	Despoina Kalfakakou
00020964	-	M	Neapoli, Laconia	Metsovo	Greek-Romanian	no	-	-	-	1	1	Despoina Kalfakakou
00021081	-	F	Lefkada	Zakynthos	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021179	-	F	Evrytania	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021216	-	F	Tithorea, Livadia	Edessa	Greek	no	-	OVCA	-	1	3	Despoina Kalfakakou
00021234	-	F	Albania	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021287	-	F	Agrinio	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021353	-	F	Neochori, Elis	Lithochori, Evrytania	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021359	-	F	Samos	Chios	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021427	-	F	Lesbos	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021436	-	F	Ioannina	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021438	-	F	Trikala	-	Greek	no	-	OVCA	-	2	1	Despoina Kalfakakou
00021459	-	F	Agios Vlasios, Boeotia	Davleia, Boeotia	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021549	-	F	-	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021550	-	F	Korçë, Albania	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021551	-	F	Boeotia	Athens	Greek	no	-	CMM3, OVCA	-	1	1	Despoina Kalfakakou
00021567	-	F	Chania	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021607	-	F	Elis	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021633	-	F	Karpathos / Pontus	Karpathos / Pontus	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021644	-	F	Pontus	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021710	-	F	-	-	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021723	-	F	Russia	Uzbekistan	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00021755	-	F	Mazaraki, Elis	Preveza	Greek	no	-	ENC, OVCA	-	1	1	Despoina Kalfakakou
00021771	-	F	Fragkata, Cephalonia	-	Greek	no	-	ENC, OVCA	-	1	1	Despoina Kalfakakou
00021864	-	F	Athens	Phthiotis	Greek	no	-	OVCA	-	1	1	Despoina Kalfakakou
00022000	-	F	-	-	-	-	-	OVCA	-	1	1	Despoina Kalfakakou

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

SMARCB1 (SWI/SNF related, matrix associated, actin ...)

All individuals with variants in gene SMARCB1

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