LOVD v.3.0 Build 19 [
Current LOVD status
]
Log in
View all genes
View all transcripts
View all genomic variants
View all variants affecting transcripts
View all individuals
View all diseases
View all screenings
Submit new data
View all 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.
Variants in genes
: The individual has variants for this gene.
Panel size
: How many individuals does this entry represent?
1775 entries on 18 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Note that find & replace is still in BETA. Changes made using this feature are not checked for errors, therefore using find & replace may have destructive consequences.
Make a download or backup of the data you're about to edit. If uncertain, use the edit form of the data entries instead.
Applying find & replace to column "
".
Text to find
Match anywhere
Match at beginning of field
Match at end of field
Replace with
Replace everything in field
Enter your password to apply find and replace:
Individual ID
Ethnic origin
Reference
Remarks
Disease
Genes screened
Variants in genes
Variants
Panel size
Owner
00000015
Turk-Sephardic-Italian-Spanish-Argentinian
-
-
Healthy/Control
BRCA1, BRCA2, MSH2
BRCA1, BRCA2, MSH2
21
1
Lina Nuñez-Private Practice
00000047
Portuguese
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
18
1
Luisina Bruno-Instituto Alexander Fleming
00000048
Russian/Ucranian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
8
1
Luisina Bruno-Instituto Alexander Fleming
00000049
Spanish-Italian
-
-
-
BRCA1, BRCA2
BRCA2
7
1
Luisina Bruno-Instituto Alexander Fleming
00000050
Ashkenazi-Sephardic
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
10
1
Luisina Bruno-Instituto Alexander Fleming
00000051
Austrian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Luisina Bruno-Instituto Alexander Fleming
00000052
Argentinian
-
-
-
BRCA1, BRCA2
BRCA2
5
1
Luisina Bruno-Instituto Alexander Fleming
00000053
Spanish-Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Luisina Bruno-Instituto Alexander Fleming
00000054
Italian
-
-
-
MLH1, MSH2, MSH6, MUTYH, PMS1, PMS2
MLH1, MSH6, PMS2
11
1
Luisina Bruno-Instituto Alexander Fleming
00000055
German-Argentinian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Luisina Bruno-Instituto Alexander Fleming
00000056
Italian
-
-
-
BRCA1, BRCA2
BRCA2
3
1
Luisina Bruno-Instituto Alexander Fleming
00000057
Italian-French Basque
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Luisina Bruno-Instituto Alexander Fleming
00000060
Spanish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
12
1
Luisina Bruno-Instituto Alexander Fleming
00000061
Spanish-North African
-
-
-
BRCA2
BRCA2
1
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000062
Spanish-Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Lina Nuñez-Hospital Alemán
00000063
Polish-Ashkenazi
-
-
-
-
-
0
1
Lina Nuñez-Private Practice
00000065
Argentinian-Irish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Lina Nuñez-Hospital Alemán
00000066
French
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
11
1
Lina Nuñez-Hospital Alemán
00000067
French-Basque-English-Uruguayan
-
-
-
BRCA2
BRCA2
1
1
Lina Nuñez-Private Practice
00000068
Ashkenazi
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
16
1
Lina Nuñez-Hospital Alemán
00000069
Italian
-
-
-
BRCA1
-
0
1
Luisina Bruno-Instituto Alexander Fleming
00000071
Spanish
-
-
-
BRCA2
-
0
1
Luisina Bruno-Instituto Alexander Fleming
00000072
Italian
-
-
-
BRCA2
-
0
1
Luisina Bruno-Instituto Alexander Fleming
00000073
Unknown
-
-
-
BRCA1, BRCA2
BRCA2
2
1
Luisina Bruno-Instituto Alexander Fleming
00000074
Jew (Sephardic)
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
10
1
Luisina Bruno-Instituto Alexander Fleming
00000075
Spanish-Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
20
1
Luisina Bruno-Instituto Alexander Fleming
00000076
Jew (Ashkenazi)
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
13
1
Luisina Bruno-Instituto Alexander Fleming
00000077
Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
9
1
Luisina Bruno-Instituto Alexander Fleming
00000078
Spanish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
7
1
Luisina Bruno-Instituto Alexander Fleming
00000079
Ucranian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
5
1
Luisina Bruno-Instituto Alexander Fleming
00000080
Jew (Ashkenazi)
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Luisina Bruno-Instituto Alexander Fleming
00000081
Spanish
-
-
-
BRCA1, BRCA2
BRCA2
6
1
Luisina Bruno-Instituto Alexander Fleming
00000082
Spanish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
13
1
Luisina Bruno-Instituto Alexander Fleming
00000083
Spanish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
31
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000084
Italian
-
-
-
BRCA1, BRCA2
BRCA1
1
1
Lina Nuñez-Private Practice
00000085
Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
10
1
Lina Nuñez-Private Practice
00000087
Italian
-
-
-
BRCA1
-
0
1
Lina Nuñez-Private Practice
00000088
Italian-Argentinian
-
-
-
-
-
0
1
Lina Nuñez-Private Practice
00000090
Spanish-Italian
-
-
-
BRCA2
BRCA2
1
1
Lina Nuñez-Private Practice
00000091
Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
27
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000092
Italian-Spanish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
35
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000093
Italian-Argentinian
-
-
-
BRCA2
BRCA2
1
1
Lina Nuñez-Private Practice
00000094
Italian-Spanish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
33
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000095
Italian-French
-
-
-
BRCA1, BRCA2
BRCA2
8
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000096
Italian
-
-
-
RET
RET
1
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000097
Unknown
-
-
-
VHL
VHL
4
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000098
Irish-Ashkenazi
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
10
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000099
Spanish
-
-
-
BRCA1, BRCA2
BRCA2
1
1
Lina Nuñez-Private Practice
00000100
Syrian-Sephardic-Polish-Ashkenazi
-
-
-
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, NBN, NF1, PALB2, PTEN, RAD50, STK11, TP53
BARD1, BRCA1, BRCA2, BRIP1, CDH1, NF1, STK11, TP53
20
1
Lina Nuñez-Private Practice
00000102
Italian-Spanish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
23
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000103
French-Spanish
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
16
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
00000104
Spanish
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
31
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
00000105
Italian
-
-
-
BRCA2
-
0
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
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
-
0
1
Erika Stegmayer-Instituto de Gastroenterología
00000114
Argentinian
-
-
-
BRCA1
-
0
1
Claudia Martin-Hospital Privado Centro Médico de Córdoba
00000115
Italian
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
23
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000116
Polish-Russian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Norma Rossi-Hospital Privado Centro Médico de Córdoba
00000117
Italian
-
-
-
BRCA1, BRCA2
-
0
1
Gonzalo Tabares-CEMA
00000118
Ashkenazi
-
-
-
BRCA1, BRCA2
-
0
1
Gonzalo Tabares-CEMA
00000119
Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
8
1
Gonzalo Tabares-CEMA
00000120
Syrian-Sephardic
-
-
-
BRCA1
BRCA1
1
1
Lina Nuñez-Hospital Alemán
00000121
Spanish
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Lina Nuñez-Private Practice
00000123
Spanish-Argentinian
-
-
-
NF2
NF2
1
1
Lina Nuñez-Private Practice
00000124
Spanish-French-Argentinian
-
-
-
TSC1, TSC2
TSC1
2
1
Lina Nuñez-Private Practice
00000125
Italian
-
-
-
BRCA2
BRCA2
1
1
Lina Nuñez-Private Practice
00000126
European
-
-
-
APC, MUTYH
APC, MUTYH
10
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000127
European
-
-
-
BRCA1, BRCA2
BRCA2
3
1
Alejandra Mampel-COIR
00000128
European
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
11
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000129
European
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
16
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000130
European
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
14
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000131
European
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
7
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000132
European
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
15
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000133
European
-
-
-
MLH1, MSH2, MSH6, MUTYH, PMS2
MLH1, MSH2, MSH6, MUTYH, PMS2
24
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000134
European
-
-
-
BRCA1, BRCA2
BRCA2
8
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000135
European
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
16
1
Alejandra Mampel-Hospital Universitario de Mendoza
00000136
Amerindian-German-Argentinian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
10
1
Lina Nuñez-Private Practice
00000138
Italian-Yugoslav
-
-
-
-
APC
1
1
Lina Nuñez-Private Practice
00000139
Spanish-Italian
-
-
-
BRCA2
BRCA2
1
1
Lina Nuñez-Private Practice
00000140
Italian-Swiss
-
-
-
BRCA1, BRCA2
BRCA2
9
1
Lina Nuñez-Private Practice
00000141
Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
2
1
Lina Nuñez-Private Practice
00000143
Spanish-Swiss
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
5
1
Lina Nuñez-Private Practice
00000144
Spanish-Italian
-
-
-
-
-
0
1
Lina Nuñez-Hospital Alemán
00000145
French-Argentinian
-
-
-
BRCA1, BRCA2
BRCA2
5
1
Lina Nuñez-Private Practice
00000146
Spanish-Scottish-Argentinian-Uruguayan
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
5
1
Lina Nuñez-Private Practice
00000147
Argentinian-Spanish-French
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
18
1
Pablo Kalfayan-CEMIC
00000148
Argentinian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Florencia Petracchi-CEMIC
00000149
Spanish-Italian
-
-
-
BRCA1, BRCA2, BRIP1, MLH1, MSH2, MSH6, MUTYH, PMS2, RAD51C, RAD51D, STK11
BRCA1, BRCA2, BRIP1, MLH1, MSH6, MUTYH, PMS2, RAD51D, STK11
41
1
Pablo Kalfayan-Hospital Italiano
00000150
Caucasian European
-
-
-
BRCA1, BRCA2
BRCA1
1
1
Dolores Mansilla-Instituto Roffo
00000151
Bolivian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
17
1
Dolores Mansilla-Instituto Roffo
00000152
Italian
-
-
-
-
STK11
1
1
Dolores Mansilla-Instituto Roffo
00000153
Italian
-
-
-
APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2
APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2
48
1
Maria Gonzalez-Hospital Italiano
00000154
Italian-Amerindian
-
-
-
BRCA1, BRCA2, CHEK2
BRCA1, BRCA2
14
1
Lina Nuñez-Hospital Alemán
00000155
Spanish-Italian
-
-
-
BRCA1, BRCA2
BRCA1, BRCA2
12
1
Lina Nuñez-Hospital Alemán
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Instituto Nacional del Cáncer
Programa Nacional de Tumores Familiares y Hereditarios.
procafa@inc.gob.ar
Argentina