All individuals with variants in gene NOBOX

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.

123 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00101241	-	PubMed: Li 2017	-	F	?	China	Han Chinese	-	-	-	-	POF	. The serum FSH level of the patient who carried DelG mutation was 51.07 IU/l; LH = 27.69 IU/l; E2 (estradiol) = 82.64 pmol/l; testosterone (T) = 1.94 nmol/l; prolactin = 15.85 ng/ml.	1	1	Lin Li
00294348	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00324127	FamPatIV1	PubMed: Sassi 2021	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	no	Belgium	white	-	-	-	-	POF	primary amenorrhea and delayed puberty	2	2	Asma Sassi
00324129	FamPatIV2	PubMed: Sassi 2021	sister	F	no	Belgium	white	-	-	-	-	POF	primary amenorrhea and delayed puberty	2	1	Asma Sassi
00402737	patient	-	-	F	no	Belgium	Italy	-	-	-	-	POF5	premature ovarian insufficiency; 20y-hypergonadotrophic hypogonadism, secondary amenorrhea	1	1	Asma Sassi
00477045	Pat1	PubMed: Bouilly 2011	patient	F	-	Guinea	-	-	-	-	-	POF	primary amenorrhea, absent puberty	1	1	Johan den Dunnen
00477046	Pat2	PubMed: Bouilly 2011	patient	F	-	Senegal	-	-	-	-	-	POF	21y-secondary amenorrhea, normal puberty	1	1	Johan den Dunnen
00477047	Pat3	PubMed: Bouilly 2011	family, 2 affected sister	F	-	Congo	-	-	-	-	-	POF	primary amenorrhea, delayed puberty	1	2	Johan den Dunnen
00477048	Pat4	PubMed: Bouilly 2011	sister	F	-	Congo	-	-	-	-	-	POF	23y-secondary amenorrhea, normal puberty	1	1	Johan den Dunnen
00477049	Pat5	PubMed: Bouilly 2011	patient	F	-	Mali	-	-	-	-	-	POF	16y-secondary amenorrhea, , normal puberty	1	1	Johan den Dunnen
00477050	Pat6	PubMed: Bouilly 2011	patient	F	-	-	French Caribbean	-	-	-	-	POF	primary amenorrhea, delayed puberty	1	1	Johan den Dunnen
00477051	Pat7	PubMed: Bouilly 2011	patient	F	-	-	Congo;France	-	-	-	-	POF	normal puberty, 28y-secondary amenorrhea	1	1	Johan den Dunnen
00477052	Pat8	PubMed: Bouilly 2011	patient	F	-	France	white	-	-	-	-	POF	normal puberty, 34y-secondary amenorrhea	1	1	Johan den Dunnen
00477053	Pat9	PubMed: Bouilly 2011	patient	F	-	France	white	-	-	-	-	POF	normal puberty, 27y-secondary amenorrhea	1	1	Johan den Dunnen
00477054	Pat10	PubMed: Bouilly 2011	patient	F	-	France	white	-	-	-	-	POF	normal puberty, 26y-secondary amenorrhea	1	1	Johan den Dunnen
00477055	Pat11	PubMed: Bouilly 2011	patient	F	-	France	white	-	-	-	-	POF	normal puberty, 36y-secondary amenorrhea	1	1	Johan den Dunnen
00477056	Pat12	PubMed: Bouilly 2011	patient	F	-	France	white	-	-	-	-	POF	normal puberty, 37y-secondary amenorrhea	1	1	Johan den Dunnen
00477057	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	22	Johan den Dunnen
00477058	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	3	Johan den Dunnen
00477059	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	55	Johan den Dunnen
00477060	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	3	Johan den Dunnen
00477061	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	58	Johan den Dunnen
00477062	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	2	Johan den Dunnen
00477063	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477064	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477065	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477066	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	56	Johan den Dunnen
00477067	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	33	Johan den Dunnen
00477068	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477069	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477070	-	PubMed: Bouilly 2011	analysis 178 primary ovarian insufficiency cases	-	-	-	-	-	-	-	-	POF	-	1	8	Johan den Dunnen
00477071	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	27	Johan den Dunnen
00477072	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477073	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	41	Johan den Dunnen
00477074	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	see paper; ..., mild phenotype, normal puberty, 11y-menarche, two healthy children, 32y-menopause	1	1	Johan den Dunnen
00477075	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477076	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	41	Johan den Dunnen
00477077	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	41	Johan den Dunnen
00477078	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477079	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	27	Johan den Dunnen
00477080	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	39	Johan den Dunnen
00477081	-	PubMed: Qin 2007	analysis 96 primary ovarian failure cases	F	-	United States	-	-	-	-	-	POF	-	1	26	Johan den Dunnen
00477082	Pat1	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	Senegal	-	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477083	Pat2	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	Benin	-	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477084	Pat3	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	Cote D'Ivoire (Ivory Coast)	-	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477085	Pat4	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	Mali	-	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	2	1	Johan den Dunnen
00477086	Pat5	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	France	white	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477087	Pat6	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	Haiti	-	-	-	-	-	POF	see paper; ..., no puberty, primary amenorrhea	1	1	Johan den Dunnen
00477088	Pat7	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	-	-	-	-	-	-	POF	see paper; ..., no puberty, primary amenorrhea	1	1	Johan den Dunnen
00477089	Pat8	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	France	white	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477090	Pat9	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	France	white	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477091	Pat10	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	France	white	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477092	Pat11	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	Mali	-	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477093	Pat12	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	Haiti	-	-	-	-	-	POF	see paper; ..., normal puberty, secondary amenorrhea	1	1	Johan den Dunnen
00477094	-	PubMed: Bouilly 2015	analysis 213 unrelated primary ovarian insufficiency cases	F	-	France	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477095	FamPatII3/4	PubMed: Franca 2017	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	yes	Brazil	-	-	-	-	-	POF	see paper; ..., premature ovarian failure	1	2	Johan den Dunnen
00477096	BAB6985	PubMed: Jolly 2019	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Turkey	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477097	patient	PubMed: Li 2017	-	F	-	China	-	-	-	-	-	POF	see paper; ..., primary amenorrhea, elevatedserum FSH level (51.07 IU/?)	1	1	Johan den Dunnen
00477098	patient	PubMed: Li 2017	-	F	-	China	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477099	patient	PubMed: Li 2017	-	F	-	China	-	-	-	-	-	POF	-	1	1	Johan den Dunnen
00477100	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477101	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	13	Johan den Dunnen
00477102	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477103	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477104	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	3	Johan den Dunnen
00477105	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	29	Johan den Dunnen
00477106	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	34	Johan den Dunnen
00477107	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	4	Johan den Dunnen
00477108	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	12	Johan den Dunnen
00477109	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477110	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	3	Johan den Dunnen
00477111	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	2	Johan den Dunnen
00477112	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477113	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477114	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477115	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477116	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	2	1	Johan den Dunnen
00477117	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477118	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	4	Johan den Dunnen
00477119	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477120	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	2	Johan den Dunnen
00477121	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	25	Johan den Dunnen
00477122	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477123	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477124	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477125	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477126	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477127	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	2	Johan den Dunnen
00477128	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	2	1	Johan den Dunnen
00477129	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477130	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	3	Johan den Dunnen
00477131	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	3	Johan den Dunnen
00477132	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477133	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477134	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	2	1	Johan den Dunnen
00477135	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	2	1	Johan den Dunnen
00477136	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	2	1	Johan den Dunnen
00477137	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477138	-	PubMed: Jordan 2024	analysis 810 cases POF	F	-	-	-	-	-	-	-	POF	primary or secondary amenorrhea; elevated FSH (>25 UI/L)	1	1	Johan den Dunnen
00477148	Pat3	PubMed: Eskenazi 2021	analysis 269 cases POI	F	-	France	-	-	-	-	-	POF	secondary menstrual disturbance	1	1	Johan den Dunnen

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Global Variome shared LOVD

NOBOX (NOBOX oogenesis homeobox)