Global Variome shared LOVD
NF1 (neurofibromin 1)
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curator:
Rick van Minkelen
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All individuals with variants in gene NF1
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.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
6659 entries on 67 pages. Showing entries 1 - 100.
10 per page
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Legend
How to query
« First
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00000102
-
PubMed: Almomani 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00016860
ID44
-
NF1 patient
F
?
(Germany)
-
?
-
-
-
NF1
-
6
1
Denise Emmerich
00019904
1
-
-
M
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, freckling, macrocephaly, pectus excavatum
1
1
Alessandro De Luca
00019941
2
-
-
M
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, freckling, pectus excavatum, scapular winging, scoliosis, ptosis, triangular face, close palate, low set posteriorly rotated ears, mild joint laxity, skin hyperelasticity, easy extensibility of the ears, flat feet, celiac disease, narrowing of the peripheral nasal visual field
1
1
Alessandro De Luca
00019942
3
-
-
F
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, freckling, macrocephaly, pectus excavatum, hypertelorism, low set posteriorly rotated ears, short neck
1
1
Alessandro De Luca
00019943
F4,II:2
-
-
F
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, freckling, short stature, low set ears, ptosis
1
1
Alessandro De Luca
00019944
F4,III:1
-
-
M
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, low set ears, hypertelorism
1
1
Alessandro De Luca
00019945
F5,II:3
-
-
M
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, freckling
1
1
Alessandro De Luca
00019946
F5,III:2
-
-
F
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, freckling
1
1
Alessandro De Luca
00019947
F5,III:7
-
-
F
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, freckling
1
1
Alessandro De Luca
00019948
F6,II:2
-
-
F
-
Italy
white
-
-
-
-
NF1
Café-au-lait spots, freckling, scoliosis
1
1
Alessandro De Luca
00024240
24896178_con
PubMed: Gilissen 2014
-
-
-
-
-
-
-
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00047871
26
PubMed: Ercolino 2014
-
M
-
(Italy)
-
-
-
-
-
MINAS
macrocephaly, café au lait patches and axillary freckling 57y; Kyphoscoliosis 57y; Multiple cutaneous neurofibromas 57y; Thyroid C-cell hyperplasia 57y; Parathyroid hyperplasia 57y
1
1
James Whitworth
00047872
27
PubMed: Campos 2013
-
F
-
(Spain)
-
-
-
-
-
MINAS
café au lait patches multiple cutaneous neurofibromas and Axillary/inguinal freckling in childhood; Breast infiltrating duct carcinoma 35y
1
1
James Whitworth
00048060
83
-
-
M
-
Denmark
-
-
-
-
-
MINAS
testicular seminoma 39y; Phaeochromocytoma 43y; Chromophobe renal cell carcinoma 55y; Gastrointestinal stromal tumour x2 55y; Malignant peripheral nerve sheath tumour 56y; Multiple cutaneous neurofibromas and cafe au lait patches; Recurrent pneumothoraces
1
1
James Whitworth
00050702
25533962-Dec264096
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
F
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
?
multiple cafe-au-lait spots, acanthosis nigricans, acanthosis nigricans, action tremor, facial palsy, degeneration of anterior horn cells, atrophy/degeneration involving motor neurons, muscle weakness, progressive muscle weakness
1
1
Johan den Dunnen
00064297
G75659/401
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064298
G92765/301
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064299
G21595/101
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064300
15010327
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064301
G65405/201
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064302
G81763/201
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064304
G60698/401
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064305
G24020/401
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064306
M12/000353
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064307
G23810/201
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064308
G72449/401
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064309
GE2
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064311
15018624
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064312
G90856/401
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064313
GE6
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064314
G23903/201
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064315
G72451/202
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064316
G20602/302
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064317
G76622/301
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064318
G86848/401
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064319
13006079
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064320
G23383/401
-
-
-
-
-
-
-
-
-
-
?
-
2
1
Glenda Beaman
00064321
G22742/201
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064322
G23149/301
-
-
-
-
-
-
-
-
-
-
?
-
2
1
Glenda Beaman
00064323
G89185/301
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064324
G37366/302
-
-
-
-
-
-
-
-
-
-
?
-
1
1
Glenda Beaman
00064325
G22610/401
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1
1
Glenda Beaman
00064326
G23306/401
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1
1
Glenda Beaman
00064327
G23868/40
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1
1
Glenda Beaman
00064328
G24116/401
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1
1
Glenda Beaman
00064329
G88468/401
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1
1
Glenda Beaman
00064330
G87261/401
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1
1
Glenda Beaman
00064331
GE7
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?
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1
1
Glenda Beaman
00064332
M13/012774
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1
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Glenda Beaman
00064333
G96269/301
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1
1
Glenda Beaman
00064334
GE8
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?
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1
1
Glenda Beaman
00064335
GE9
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?
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1
1
Glenda Beaman
00064336
G22080/201
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?
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1
1
Glenda Beaman
00064337
G76888
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1
1
Glenda Beaman
00064338
G20774/301
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1
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Glenda Beaman
00064339
G22742/302
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1
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Glenda Beaman
00064340
G24100/301
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1
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Glenda Beaman
00064341
G65335/301
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1
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Glenda Beaman
00064342
G89199/402
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1
1
Glenda Beaman
00064343
GE10
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1
1
Glenda Beaman
00064344
G47568/301
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1
1
Glenda Beaman
00064345
GE11
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1
1
Glenda Beaman
00064346
G60873/201
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1
1
Glenda Beaman
00064347
G90850/301
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1
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Glenda Beaman
00064348
G63558/401
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1
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Glenda Beaman
00064349
G21821/301
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1
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00064350
G20560/202
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Glenda Beaman
00064351
G78221
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1
1
Glenda Beaman
00064352
GE12
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1
1
Glenda Beaman
00064353
G22365
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1
1
Glenda Beaman
00064354
G69142/201
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1
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Glenda Beaman
00064355
G23637/301
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1
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Glenda Beaman
00064356
G87693/301
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1
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Glenda Beaman
00064357
G80974/301
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1
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Glenda Beaman
00064358
G94022/301
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1
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Glenda Beaman
00064359
G73008/301
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00064360
G21440/301
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00064361
G73642/301
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1
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Glenda Beaman
00064362
G89718
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1
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Glenda Beaman
00064363
G69861/401
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Glenda Beaman
00064364
G22804/401
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Glenda Beaman
00064365
G22711/401
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Glenda Beaman
00064366
G96255
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Glenda Beaman
00064367
G55186/401
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Glenda Beaman
00064368
G50263/401
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Glenda Beaman
00064369
G87586/401
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Glenda Beaman
00064370
G65475/401
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Glenda Beaman
00064371
G90371/401
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1
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Glenda Beaman
00064372
GE13
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1
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Glenda Beaman
00064373
GE14
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1
1
Glenda Beaman
00064374
G70785/201
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1
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Glenda Beaman
00064375
G43185/304
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1
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Glenda Beaman
00064376
G73982/201
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Glenda Beaman
00064377
G75041/201
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Glenda Beaman
00064378
G24314/302
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Glenda Beaman
00064379
G24314/301
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Glenda Beaman
00064380
G51688/401
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1
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Glenda Beaman
00064381
G23371/301
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1
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Glenda Beaman
00064382
G24170/403
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1
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Glenda Beaman
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