All individuals with variants in gene FGFR1

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.

220 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		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
00037765	-	-	-	M	-	Belgium	European	-	-	-	-	HH2;KAL2	-	1	1	Cecile Libioulle
00065246	26942290 LR12-068	PubMed: Bennett JT 2016, Journal: Bennett JT 2016	-	M	-	-	-	>07y	-	-	-	?	no cognitive impairment (-HP:0100543), no seizures (HP:0001250), Intracranial lipomas (HP:0100251), no spinal lipomas (-HP:0100251), Astrocytoma (HP:0009592), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), Aplasia cutis congenita of scalp (HP:0007385), Skin tags (HP:0010609), Choristoma, no coloboma (-HP:0000589),	1	1	Pieter Klap
00065248	26942290 LR13-278	PubMed: Bennett JT 2016, Journal: Bennett JT 2016	-	M	-	-	-	>15y	-	-	-	?	Neurocognitive function delay (HP:0001263), seizures (HP:0001250), Intracranial lipomas (HP:0100251), Tectal tumor (HP:0010796), Left temporal cortical dysplasia (HP:0002539), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), Aplasia cutis congenita of scalp (HP:0007385), Skin tags (HP:0010609), Choristoma, Coloboma (HP:0000589)	1	1	Pieter Klap
00065250	26942290 IN_0039	PubMed: Bennett JT 2016, Journal: Bennett JT 2016	-	M	-	-	-	>00y17m	-	-	-	?	no cognitive impairment (-HP:0100543), no seizures (-HP:0001250), Intracranial lipomas (HP:0100251), spinal lipomas (HP:0100251), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), Aplasia cutis congenita of scalp (HP:0007385), Skin tags (HP:0010609), Choristoma, Coloboma (HP:0000589)	1	1	Pieter Klap
00065253	26942290 NIH_183	PubMed: Bennett JT 2016, Journal: Bennett JT 2016	-	M	-	-	-	>02y08m	-	-	-	?	no cognitive impairment (-HP:0100543), no seizures (HP:0001250), no intracranial lipomas (-HP:0100251), no spinal lipomas (-HP:0100251), Astrocytoma (HP:0009592), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), Aplasia cutis congenita of scalp (HP:0007385), Skin tags (HP:0010609), no choristoma, no coloboma (-HP:0000589)	1	1	Pieter Klap
00065254	26942290 LR14-261	PubMed: Bennett JT 2016, Journal: Bennett JT 2016	-	F	-	-	-	>05y	-	-	-	?	no cognitive impairment (-HP:0100543), no seizures (-HP:0001250), Intracranial lipomas (HP:0100251), no spinal lipomas (-HP:0100251), Nevus psiloliparus, Alopecia (HP:0001596), Subcutaneous lipoma (HP:0001031), no aplasia cutis congenita of scalp (-HP:0007385), Skin tags (HP:0010609), Choristoma, no coloboma (-HP:0000589)	1	1	Pieter Klap
00081732	-	PubMed: Hanchate 2012, Journal: Hanchate 2012	targeted sequencing in 386 Kallmann syndrome patients, 1 affected	M	-	France	-	-	-	-	-	KAL	-	1	1	Johan den Dunnen
00091783	-	PubMed: Huang 2005	-	-	no	Ireland	-	-	-	-	-	ABS1	see paper; ...	1	1	Johan den Dunnen
00094957	-	-	-	M	-	Japan	-	-	-	-	-	HH2;KAL2	-	1	1	Kohnosuke Ohtaka
00095072	-	-	-	M	-	Japan	Japanese	-	-	-	-	HH2;KAL2	Split hand foot malformation Hypogonadotripic hypogonadism	1	1	Kohnosuke Ohtaka
00095073	-	-	-	F	-	Japan	Japanese	-	-	-	-	HH2;KAL2	Split hand hoot malformation Hypogonadtropic hypogonadism	1	1	Kohnosuke Ohtaka
00095074	-	-	-	M	?	Japan	Japanese	-	-	-	-	HH2;KAL2	Split hand foot malformation Hypogonadotropic hypogonadism	1	1	Kohnosuke Ohtaka
00104944	-	-	-	M	no	Israel	Jewish	-	-	-	-	ANI	-	1	3	Anna Alkelai
00174403	-	-	-	M	no	(Italy)	-	-	-	-	-	HRTFDS	Holoprosencephaly (HPE) spectrum disorderslobar HPE (Lobar), HP:0001360, HP:0006870; corpus callosum (parzial Agenesia), HP:0001273; ectrodactyly spectrum disorders (Foot/ Right/Left), HP:0100257, HP:0001839; abnormal genitalia (Micropenis, Cryptorchidism), HP:0000811, HP:0000054, HP:0000028; central diabetes insipidus, HP:0000863; developmental delay/intellectual disability (mild), HP:0012758, HP:0001249	1	1	Lucia Micale
00226336	patient6	-	-	?	?	-	-	-	-	-	-	cancer	dysembryoplastic neuroepithelial tumour	1	1	Lisa-Marie Niestroj
00226338	patient7	-	-	M	?	-	-	-	-	-	-	cancer	dysembryoplastic neuroepithelial tumour	1	1	Lisa-Marie Niestroj
00231467	Pat97	PubMed: Eggers 2016	-	M	-	-	-	-	-	-	-	DSD	disorder of sex development	1	1	Johan den Dunnen
00283914	-	PubMed: Dodé 2009, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283915	-	PubMed: Sarfati 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283916	-	PubMed: Trarbach 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283917	-	PubMed: Sykiotis 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283918	-	PubMed: Sykiotis 2010, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283919	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283920	-	PubMed: Sykiotis 2010, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283921	-	PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Falardeau 2008	-	-	-	-	-	-	-	-	-	KS	hypogonadotropic hypogonadism 2 without anosmia	1	1	Global Variome, with Curator vacancy
00283922	-	PubMed: Caronia 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283923	-	PubMed: Shaw 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283924	-	PubMed: Sato 2004, PubMed: Rajith 2013, PubMed: Sykiotis 2010	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283925	-	PubMed: Zhu 2015, PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283926	-	PubMed: Dodé 2009	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283927	-	PubMed: Albuisson 2005	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283928	-	PubMed: Sykiotis 2010, PubMed: Shaw 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283929	-	PubMed: Simonis 2013, PubMed: Solomon 1993, PubMed: Vilain 2009	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283930	-	PubMed: Laitinen 2011, PubMed: Pitteloud 2006, PubMed: Balasubramanian 1993	-	-	-	-	-	-	-	-	-	KS	hypogonadotropic hypogonadism 2 without anosmia, suceptibility to	1	1	Global Variome, with Curator vacancy
00283931	-	PubMed: Pitteloud 2006	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283932	-	PubMed: Trarbach 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283933	-	PubMed: Dodé 2003, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283934	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283935	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283936	-	PubMed: Pitteloud 2006, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283937	-	PubMed: Pitteloud 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283938	-	PubMed: Sykiotis 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283939	-	PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Vizeneux 2013	-	-	-	-	-	-	-	-	-	KS	hyposmia ; isolated hypogonadotropic hypogonadism	1	1	Global Variome, with Curator vacancy
00283940	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283941	-	PubMed: Cadman 2007, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283942	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283943	-	PubMed: Zhu 2015, PubMed: Sato 2005, PubMed: Rajith 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283944	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283945	-	PubMed: Laitinen 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283946	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283947	-	PubMed: Dodé 2003	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283948	-	PubMed: Zhu 2015, PubMed: Laitinen 2011, PubMed: Pitteloud 2006, PubMed: Balasubramanian 1993, PubMed: Miraoui 2013, PubMed: Raivio 2009, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283949	-	PubMed: Raivio 2009, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283950	-	PubMed: Laitinen 2011	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283951	-	PubMed: Costa-Barbosa 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283952	-	PubMed: Dodé 2003, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283953	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283954	-	PubMed: Dodé 2007, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283955	-	PubMed: Dodé 2007	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283956	-	PubMed: Dodé 2003	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283957	-	PubMed: Tommiska 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283958	-	PubMed: Zhu 2015, PubMed: Shaw 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283959	-	PubMed: Sarfati 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283960	-	PubMed: Shaw 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283961	-	PubMed: Simonis 2013	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283962	-	PubMed: Dhamija 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283963	-	PubMed: Simonis 2013, PubMed: Solomon 1993	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283964	-	PubMed: Bailleul-Forestier 2010, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283965	-	PubMed: Xu 2007, PubMed: Balasubramanian 1993, PubMed: Zhu 2015, PubMed: Laitinen 2011, PubMed: Dodé 2003, PubMed: Miraoui 2013, PubMed: Sykiotis 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283966	-	PubMed: Zenaty 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283967	-	PubMed: Dodé 2007, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283968	-	PubMed: Raivio 2009, PubMed: Miraoui 2013, PubMed: Sykiotis 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283969	-	PubMed: Trarbach 2006	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283970	-	PubMed: Albuisson 2005	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283971	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283972	-	PubMed: Riley 2007, PubMed: Marcos 2014, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283973	-	PubMed: Dodé 2003, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283974	-	PubMed: Sarfati 2010	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283975	-	PubMed: Pitteloud 2006, PubMed: Miraoui 2013, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283976	-	PubMed: Izumi 2014	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283977	-	PubMed: Sarfati 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283978	-	PubMed: Tommiska 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283979	-	PubMed: Pitteloud 2006, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283980	-	PubMed: Albuisson 2005, PubMed: Rajith 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283981	-	PubMed: Sykiotis 2010, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283982	-	PubMed: Tommiska 2014	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283983	-	PubMed: Costa-Barbosa 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283984	-	PubMed: Simonis 2013	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283985	-	PubMed: Balasubramanian 1993, PubMed: Laitinen 2011, PubMed: Vizeneux 2013	-	-	-	-	-	-	-	-	-	KS	hyposmia ; isolated hypogonadotropic hypogonadism	1	1	Global Variome, with Curator vacancy
00283986	-	PubMed: Raivio 2012	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283987	-	PubMed: Costa-Barbosa 2013, PubMed: Miraoui 2013	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283988	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283989	-	PubMed: Pitteloud 2007, PubMed: Rajith 2013, PubMed: Miraoui 2013, PubMed: Sykiotis 2010	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283990	-	PubMed: Riley 2007	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283991	-	PubMed: Dodé 2009	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283992	-	PubMed: Novo 2012	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283993	-	PubMed: Marcos 2014	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy
00283994	-	PubMed: Raivio 2012	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283995	-	PubMed: Shaw 2011	-	-	-	-	-	-	-	-	-	?	-	1	1	Global Variome, with Curator vacancy
00283996	-	PubMed: Sato 2006	-	-	-	-	-	-	-	-	-	KS	-	1	1	Global Variome, with Curator vacancy

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Global Variome shared LOVD

FGFR1 (fibroblast growth factor receptor 1)