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CanVaS - A Greek Cancer Patient Genetic Variation Resource
BLM (BLM RecQ like helicase)
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Curator:
Despoina Kalfakakou
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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.
254 entries on 3 pages. Showing entries 1 - 100.
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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
00015605
-
F
Asia Minor
Sparti
Greek
no
-
BrCa, ENC
-
1
1
Despoina Kalfakakou
00015969
-
F
Chania
Mani
Greek
no
-
PNCA2
-
1
3
Despoina Kalfakakou
00016147
-
F
Athens
Constantinople
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016261
-
F
-
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016262
-
F
Nea Artaki, Chalkida
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016285
-
F
Marathonas
Athens
Greek
no
-
BrCa
-
1
2
Despoina Kalfakakou
00016287
-
F
Drama
Giannitsa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016305
-
F
Aridaia, Pella
Liksouri, Kefalonia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016335
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016389
-
F
Distomo, Boeotia
-
Greek
no
-
BrCa
-
6
1
Despoina Kalfakakou
00016392
-
F
Santorini
Evia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016405
-
F
Gkoura, Corinth
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016424
-
F
Karditsa
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016431
-
F
Orchomenos, Boeotia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016472
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016474
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016485
-
F
Heraklion, Crete
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016511
-
F
Spetses
Laconia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016521
-
F
Preveza
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016522
-
F
Arcadia
Messinia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016541
-
F
Episkopi, Rethymno
Volos
Greek
no
-
BrCa, OVCA
-
1
1
Despoina Kalfakakou
00016561
-
F
Aiani, Kozani
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016578
-
F
Mytilene
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016580
-
F
Lamia
Evrytania
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016587
-
F
Messinia
-
Greek
no
-
BrCa, OVCA
-
1
2
Despoina Kalfakakou
00016595
-
F
Poros
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016622
-
F
Albania
-
Albanian
no
-
BrCa, OVCA
-
1
1
Despoina Kalfakakou
00016634
-
M
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016635
-
M
-
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016670
-
F
Serres
Evros
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016676
-
F
Asia Minor
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016687
-
F
Laconia
Corfu
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016697
-
F
Piraeus
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016718
-
F
Florina
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016724
-
M
Spetses
Leonidio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016732
-
F
Messolonghi
Ioannina
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016737
-
F
Lamia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016748
-
M
Narte Vlore, Albania
-
Albanian
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016788
-
F
Livadi, Elassona
Nea Trapezounta, Pieria
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016790
-
F
Corfu
Athens
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016795
-
F
Laconia
Arcadia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016852
-
F
Pontus
Asia Minor
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00016861
-
F
-
Chania
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016873
-
F
Egypt
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016884
-
F
Alexandria, Egypt
Chalkida
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00016891
-
F
Thessaloniki
Argos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016895
-
F
Athens
Naxos
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016897
-
F
Pigi, Cyprus
Neta, Cyprus
Cypriot
no
-
BrCa
-
1
4
Despoina Kalfakakou
00016900
-
F
Patra
-
Greek
no
-
BrCa, NF1
-
1
1
Despoina Kalfakakou
00016909
-
F
Kyriaki, Boeotia
Chostia, Boeotia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00016948
-
F
Symi
Kos
Greek
no
-
BrCa, OVCA
-
1
3
Despoina Kalfakakou
00016962
-
F
Constantinople
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017018
-
F
Plagia, Aetolia-Acarnania
-
Greek
no
-
BrCa, LuCa
-
2
1
Despoina Kalfakakou
00017033
-
F
Andros
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017036
-
F
Thessaloniki
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017058
-
F
Heraklion, Crete
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017068
-
F
Rodia, Pineia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017094
-
F
Athens
Messolonghi
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017101
-
F
Constantinople
Thessaloniki
Greek
no
-
BrCa, CHL, ColPol
-
1
1
Despoina Kalfakakou
00017112
-
F
Kalamata
Patra
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017113
-
F
Skopelos
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017116
-
F
Pedino, Karditsa
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017162
-
F
Rafti, Arcadia
-
Greek
no
-
BrCa, OVCA
-
1
1
Despoina Kalfakakou
00017209
-
F
Vlachorafti, Arcadia
Pyrgos, Diro, Laconia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017213
-
F
Heraklion
-
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017224
-
F
Frousouna, Argolis
Artemisio, Arcadia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017233
-
F
Heraklion
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017244
-
F
Cyprus
-
Cypriot
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017247
-
F
Polikarpi, Pella
Chania
Greek
no
-
BrCa, OVCA
-
1
1
Despoina Kalfakakou
00017254
-
F
Pandrosos, Rodhope
Sappes, Rodhope
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017265
-
F
Kalavryta
Aigio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017267
-
F
Meligalas, Messinia
Platsa, Messinia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017271
-
F
Agia, Chania
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017272
-
F
Gergeri, Heraklion
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017321
-
F
Avlonari, Evia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017340
-
F
Pontus
Georgia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017341
-
F
Karystos, Evia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017372
-
F
Argos Orestiko
Kalo Nero, Larisa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017382
-
F
Vyziki, Arcadia
Kollines, Arcadia
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017391
-
F
Trikala
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017392
-
F
Pontus
Chalkidiki
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017417
-
F
Eretria
-
Greek
no
-
BrCa, TRC
-
1
3
Despoina Kalfakakou
00017434
-
F
Rizia, Evros
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017464
-
F
Aghios Vasileios, Aetolia-Acarnania
Oichalia, Trikala
Greek
no
-
BrCa
-
1
3
Despoina Kalfakakou
00017470
-
F
Kefalonia
Mazaraki, Achaia
Greek
no
-
BrCa
-
1
4
Despoina Kalfakakou
00017481
-
F
Eastern Rumelia
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017509
-
F
Patra
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017562
-
F
Grevena
Peloponnese
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017572
-
F
Drama
Vonitsa
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017587
-
F
Piraeus
Gytheio
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017610
-
F
Athens
Izmir
Greek
no
-
BrCa
-
2
1
Despoina Kalfakakou
00017766
-
F
Crete
Argolis
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017779
-
F
Kilkis
Serres
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017795
-
F
Serres
Tripoli
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017813
-
F
Volos
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017821
-
F
Pontus
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017827
-
F
Athens
Achaea
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017832
-
F
Athens
-
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
00017833
-
F
Didyma, Argolis
Levidi, Argolis
Greek
no
-
BrCa
-
1
1
Despoina Kalfakakou
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