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Disease #00007 (-)
Official abbreviation
-
Name
-
OMIM ID
-
Inheritance
-
Individuals reported having this disease
475
Phenotype entries for this disease
-
Associated with 0 genes
-
Associated tissues
-
Disease features
-
Remarks
-
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.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
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.
Remarks
: Remarks about the individual.
Cuadro familiar
: Principales canceres que motivan la sospecha clinica
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
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all entries containing 'Arg'
space
Text
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Text
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!
Text
!fs
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^
Text
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all entries beginning with 'p.(Arg'
$
Text
Ser)$
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=""
Text
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all entries with this field empty
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Text
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!=""
Text
!="p.0"
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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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475 entries on 5 pages. Showing entries 1 - 100.
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Individual ID
Ethnic origin
Reference
Remarks
Cuadro familiar
Disease
Phenotype details
Genes screened
Variants in genes
Variants
Panel size
Owner
00000106
Ashkenazi-French-German-Rumanian-Polish
-
-
-
-
-
BRCA1, BRCA2
BRCA1
2
1
Rita Valdez-Hospital Alemán
00000107
Argentinian
-
-
-
-
-
-
BRCA1
1
1
Rita Valdez-Hospital Militar Central
00000108
Italian-Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
16
1
Rita Valdez-Hospital Alemán
00000109
Spanish-Italian
-
-
-
-
-
-
BRCA2
1
1
Rita Valdez-Hospital Alemán
00000110
Italian-Argentinian
-
-
-
-
-
-
BRCA2
1
1
Rita Valdez-Hospital Alemán
00000111
Spanish-Caucasian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
10
1
Laura Vargas Roig-IMBECU
00000112
European Caucasian
-
-
-
-
-
BRCA1, BRCA2
BRCA2
4
1
Erika Stegmayer-Hospital Padilla
00000113
European Caucasian
-
-
-
-
-
BRCA1, BRCA2
-
-
1
Erika Stegmayer-Instituto de gastroenterología
00000117
Italian
-
-
-
-
-
BRCA1, BRCA2
-
-
1
Gonzalo Tabares-CEMA
00000118
Ashkenazi
-
-
-
-
-
BRCA1, BRCA2
-
-
1
Gonzalo Tabares-CEMA
00000119
Italian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
8
1
Gonzalo Tabares-CEMA
00000148
Argentinian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Florencia Petracchi-CEMIC
00000170
Spanish-Italian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
6
1
Erika Stegmayer-Hospital Padilla
00000177
Italian-Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Laura Vargas Roig-IMBECU
00000178
Caucasian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
13
1
Laura Vargas Roig-IMBECU
00000179
Italian-Argentinian
-
-
-
-
-
BRCA1, BRCA2
-
-
1
Laura Vargas Roig-IMBECU
00000198
Italian-Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
4
1
Laura Vargas Roig-IMBECU
00000199
Caucasian-Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
6
1
Laura Vargas Roig-IMBECU
00000200
Italian-Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA2
3
1
Laura Vargas Roig-IMBECU
00000201
Arab-Argentinian
-
-
-
-
-
BRCA1, BRCA2
-
-
1
Laura Vargas Roig-IMBECU
00000202
Caucasian-Spanish
-
-
-
-
-
ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
ATM, BRIP1, PALB2, RAD51D
6
1
Laura Vargas Roig-IMBECU
00000210
Spanish
-
-
-
-
-
BRCA1
BRCA1
1
1
Laura Vargas Roig-IMBECU
00000220
Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
6
1
Pablo Kalfayan-Hospital Italiano
00000221
Spanish-French-Basque
-
-
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
15
1
Pablo Kalfayan-Hospital Italiano
00000222
Turkish-French-Basque
-
-
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
3
1
Pablo Kalfayan-Hospital Italiano
00000240
Spanish-Basque
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Lucas Sanchez-Sanatorio Méndez
00000285
Russian-Italian
-
-
-
-
-
MLH1, MSH2, MSH6, MUTYH, PMS2
MLH1, MSH2, MSH6, MUTYH, PMS2
26
1
Carlos Vaccaro-Hospital Italiano
00000293
Polish-Ashkenazi
-
-
-
-
-
MSH6
-
-
1
Pablo Kalfayan-Hospital Italiano
00000294
Polish-Ashkenazi
-
-
-
-
-
MSH6
-
-
1
Pablo Kalfayan-Hospital Italiano
00000295
Spanish-Venezuelan
-
-
-
-
-
MLH1, MSH2, MSH6, MUTYH, PMS2
MLH1, MSH2, MSH6, MUTYH
24
1
Pablo Kalfayan-Hospital Italiano
00000296
Spanish
-
-
-
-
-
BRCA1
BRCA1
1
1
Pablo Kalfayan-Hospital Italiano
00000313
Ashkenazi
-
-
-
-
-
MLH1, MSH2, MSH6, MUTYH, PMS2
MLH1, MSH2, MSH6, MUTYH, PMS2
19
1
Pablo Kalfayan-Hospital Italiano
00000315
Spanish-Argentinian
-
-
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1
9
1
Pablo Kalfayan-Hospital Italiano
00000328
Spanish-Italian
-
-
-
-
-
-
ATM, CHEK2
2
1
Alvaro Yanzi-Instituto San Marcos
00000333
German
-
-
-
-
-
BRCA1, BRCA2
-
-
1
Pablo Kalfayan-Hospital Italiano
00000339
Italian-Spanish
-
-
-
-
-
BRCA1
BRCA1
1
1
Florencia Petracchi-CEMIC
00000344
Ashkenazi
-
-
-
-
-
BRCA1
-
-
1
Norma Rossi-Hospital de Córdoba
00000351
Spanish
-
-
-
-
-
-
BRCA2
1
1
Rita Valdez-Hospital Alemán
00000352
Ashkenazi
-
-
-
-
-
BRCA1, BRCA2
BRCA2
1
1
Rita Valdez-Hospital Alemán
00000353
Ucranian-Polish
-
-
-
-
-
-
BRCA1
1
1
Rita Valdez-Hospital Alemán
00000354
Ucranian-Polish
-
-
-
-
-
BRCA1
BRCA1
1
1
Rita Valdez-Hospital Alemán
00000355
Ucranian-Polish
-
-
-
-
-
BRCA1
BRCA1
1
1
Rita Valdez-Hospital Alemán
00000356
Spanish-Brazilian
-
-
-
-
-
BRCA1
-
-
1
Rita Valdez-Hospital Alemán
00000357
Italian
-
-
-
-
-
-
BRCA1
1
1
Rita Valdez-Hospital Alemán
00000358
Italian
-
-
-
-
-
BRCA1
BRCA1
1
1
Rita Valdez-Hospital Alemán
00000359
Ashkenazi
-
-
-
-
-
BRCA1, BRCA2, MSH2
BRCA1, MSH2
2
1
Lucas Sanchez-Sanatorio Méndez
00000360
Paraguayan-Argentinian
-
-
-
-
-
STK11
-
-
1
Lucas Sanchez-Sanatorio Méndez
00000361
Italian
-
-
-
-
-
-
CHEK2
1
1
Rita Valdez-Hospital Alemán
00000362
Spanish
-
-
-
-
-
-
BRCA1, BRCA2
2
1
Rita Valdez-Hospital Alemán
00000363
Italian
-
-
-
-
-
-
BRCA2, RAD51C
2
1
Rita Valdez-Hospital Alemán
00000366
Argentinian
-
-
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
16
1
Lucas Sanchez-Sanatorio Méndez
00000367
Spanish
-
-
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
15
1
Lucas Sanchez-Sanatorio Méndez
00000368
Italian-Austrian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Lucas Sanchez-Sanatorio Méndez
00000378
Caucasian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
10
1
Gonzalo Tabares-CEMA
00000379
Not available
-
-
-
-
-
ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53
ATM, BRCA2, TP53
10
1
Gonzalo Tabares-CEMA
00000380
Not available
-
-
-
-
-
ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MSH6, PALB2, PTEN, RAD51D, TP53
PALB2
1
1
Gonzalo Tabares-CEMA
00000381
Caucasian
-
-
-
-
-
-
APC, ATM, BRCA2
4
1
Gonzalo Tabares-CEMA
00000383
Austrian-Hungarian
-
-
-
-
-
-
ATM
1
1
Rita Valdez-Hospital Alemán
00000384
Japanese
-
-
-
-
-
-
BRIP1, PALB2
3
1
Rita Valdez-Hospital Alemán
00000385
Italian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
19
1
Rita Valdez-Hospital Alemán
00000386
Argentinian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
8
1
Rita Valdez-Hospital Alemán
00000387
Italian-Argentinian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
16
1
Rita Valdez-Hospital Alemán
00000388
Italian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
16
1
Rita Valdez-Hospital Alemán
00000389
Italian-Spanish
-
-
-
-
-
-
NBN
1
1
Rita Valdez-Hospital Alemán
00000390
Ashkenazi
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
16
1
Rita Valdez-Hospital Alemán
00000391
Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
10
1
Rita Valdez-Hospital Alemán
00000392
Argentinian
-
-
-
-
-
BRCA1, BRCA2
BRCA2
5
1
Rita Valdez-Hospital Alemán
00000393
Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
3
1
Rita Valdez-Hospital Alemán
00000394
Italian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
4
1
Rita Valdez-Hospital Alemán
00000395
Caucasian
-
-
-
-
-
-
ATM, BRCA2, MSH6, PTEN
5
1
Gonzalo Tabares-CEMA
00000397
Not available
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Gonzalo Tabares-CIBIC
00000399
Caucasian
-
-
-
-
-
-
ATM, BRCA2
3
1
Gonzalo Tabares-CEMA
00000400
Caucasian
-
-
-
-
-
-
ATM, BRCA2, MSH6, PTEN
5
1
Gonzalo Tabares-CEMA
00000401
Caucasian
-
-
-
-
-
-
BRCA2, CHEK2, MLH1
3
1
Gonzalo Tabares-CEMA
00000402
Not available
-
-
-
-
-
BRCA1, BRCA2
BRCA2
1
1
Gonzalo Tabares-CEMA
00000403
Not available
-
-
-
-
-
BRCA1, BRCA2
BRCA2
1
1
Gonzalo Tabares-CEMA
00000407
Italian
-
-
-
-
-
ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
BRCA1, BRCA2, BRIP1, PALB2
8
1
Gonzalo Tabares-CEMA
00000408
French-Spanish
-
-
-
-
-
ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MSH6, PALB2, PTEN, RAD51D, TP53
CHEK2
1
1
Gonzalo Tabares-CEMA
00000411
Caucasian
-
-
-
-
-
ATM, BRCA1, BRCA2, CDH1, CHEK2, MSH6, PALB2, PTEN, RAD51D, TP53
-
-
1
Gonzalo Tabares-CEMA
00000412
Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1
1
1
Gonzalo Tabares-CEMA
00000414
Italian
-
-
-
-
-
ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, MSH6, PALB2, PTEN, RAD51D, TP53
BRCA2
1
1
Gonzalo Tabares-CEMA
00000416
Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA2
1
1
Gonzalo Tabares-CEMA
00000417
Italian
-
-
-
-
-
BRCA1, BRCA2
BRCA2
1
1
Gonzalo Tabares-CEMA
00000418
Italian
-
-
-
-
-
BRCA1, BRCA2
BRCA2
1
1
Gonzalo Tabares-CEMA
00000420
Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
8
1
Jesica Ramirez-Hospital Central de Mendoza
00000437
Italian-Spanish
-
-
-
-
-
-
PALB2
1
1
Patricia Quaglio-Consultorio AGO Lab CIGEN
00000438
Italian-Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
18
1
Patricia Quaglio-Consultorio AGO Lab CIGEN
00000444
Argentinian
-
-
-
-
-
BRCA1, BRCA2
-
-
1
Laura Vargas Roig-IMBECU
00000445
Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
15
1
Laura Vargas Roig-IMBECU
00000446
Spanish
-
-
-
-
-
ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53
ATM, BRCA1, BRCA2, TP53
4
1
Laura Vargas Roig-IMBECU
00000447
Argentinian
-
-
-
-
-
BRCA1, BRCA2
BRCA2
3
1
Laura Vargas Roig-IMBECU
00000448
Argentinian
-
-
-
-
-
BRCA1, BRCA2
-
-
1
Laura Vargas Roig-IMBECU
00000450
Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA2
3
1
Laura Vargas Roig-IMBECU
00000451
Argentinian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Laura Vargas Roig-IMBECU
00000452
Argentinian
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
12
1
Laura Vargas Roig-IMBECU
00000462
Spanish-French-Italian
-
-
-
-
-
BRCA2
BRCA2
1
1
Florencia Petracchi-CEMIC
00000463
Italian-French
-
-
-
-
-
BRCA2
BRCA2
1
1
Florencia Petracchi-CEMIC
00000464
Italian-French
-
-
-
-
-
BRCA2
-
-
1
Florencia Petracchi-CEMIC
00000465
Moroccan
-
-
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
8
1
Florencia Petracchi-CEMIC
00000466
Italian-Spanish
-
-
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Florencia Petracchi-CEMIC
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