All individuals with variants in gene BMPR1A

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.

342 entries on 4 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00022288	-	-	-	-	-	Norway	-	-	-	-	CRC	rectal neuroendocrine tumour, 34 years, colorectal adenomas.	1	1	Maren Fridtjofsen Hansen
00034848	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00034849	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00034850	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00034851	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00034852	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00034853	-	-	-	-	-	Germany	-	-	-	-	?	juvenile Parkinson syndrome	1	1	Andreas Laner
00050005	JP91-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050006	I:2	PubMed: O'Riordan 2010, Journal: O'Riordan 2010	-	F	-	(Ireland)	(European)	-	-	-	HMPS2	HMPS	1	8	Global Variome, with Curator vacancy
00050007	12136244-JUV-39	PubMed: Friedl 2002	-	-	-	Germany	-	-	-	-	JPS	31y-two gastric polyps	1	1	Global Variome, with Curator vacancy
00050008	17873119-Pat64	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00050009	JP72-1	PubMed: Howe 2004, Journal: Howe 2004	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050010	JP24	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	(American)	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00050011	SNU-JP1	PubMed: Kim 2003, Journal: Kim 2003	-	-	-	Korea	(Asian)	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050012	1469	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050013	12136244-JUV-28	PubMed: Friedl 2002	-	-	-	Germany	-	-	-	-	JPS	52y-gastroscopy because of duodenal ulcer, no gastric polyposis	1	1	Global Variome, with Curator vacancy
00050014	5418	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	(European)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050015	JP52	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	(American)	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00050016	17873119-Pat45	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00050017	JP74-1	PubMed: Howe 2004, Journal: Howe 2004	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050018	case 6	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050019	JP154-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050020	JP19	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	(American)	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00050021	E1	PubMed: Howe 2001, Journal: Howe 2001	-	F	-	(United States)	(American)	-	-	-	JPS	JPS	1	8	Global Variome, with Curator vacancy
00050022	12136244-JUV-27	PubMed: Friedl 2002	-	-	-	Germany	-	-	-	-	JPS	ventricular or atrial septal defect (congenital heart disease); gastric polyposis not examined	1	1	Global Variome, with Curator vacancy
00050023	20	PubMed: van Hattem 2008, Journal: van Hattem 2008	-	-	-	(Netherlands)	(European)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050024	309-1	PubMed: Zhou 2001, Journal: Zhou 2001	-	F	-	(United States)	European	-	-	-	BRRS	-	1	1	Global Variome, with Curator vacancy
00050025	341	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	(European)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050026	case 7	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050027	18	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050028	12136244-JUV-17	PubMed: Friedl 2002	-	-	-	Germany	-	-	-	-	JPS	gastric polyposis not examined	1	1	Global Variome, with Curator vacancy
00050029	19	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050030	10	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050031	JP61	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050032	JP59	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050033	JP7/19	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050034	B2	PubMed: Howe 2001, Journal: Howe 2001	-	F	-	(United States)	(American)	-	-	-	JPS	JPS	1	5	Global Variome, with Curator vacancy
00050035	17873119-Pat59	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00050036	JP8/1	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050037	SM316	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050038	Group 2/G	PubMed: Sweet 2005, Journal: Sweet 2005	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050039	Group 2/F	PubMed: Sweet 2005, Journal: Sweet 2005	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050040	case 3	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050041	12	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	(European)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050042	17873119-Pat70	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00050043	21	PubMed: van Hattem 2008, Journal: van Hattem 2008	-	-	-	(Netherlands)	(European)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050044	II-2	PubMed: Howe 2008, Journal: Howe 2008	-	M	-	(United States)	(American)	-	-	-	JPS	JPS	1	4	Global Variome, with Curator vacancy
00050045	case 5	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050046	JP12	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	(American)	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00050047	-	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	-	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050048	17873119-Pat79	PubMed: Aretz 2007	-	-	-	Germany	-	-	-	-	JPS	see paper; ...	1	1	Global Variome, with Curator vacancy
00050049	JP85-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050050	JP25-1	PubMed: Howe 2004, Journal: Howe 2004	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050051	JP60	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050052	case 8	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050053	Fam2Pat2	PubMed: Cao 2006, Journal: Cao 2006, Journal: Cheah 2009	-	F	-	Singapore	(Asian)	-	-	-	HMPS2	HMPS	1	5	Global Variome, with Curator vacancy
00050054	98	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	(European)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050055	12136244-JUV-41	PubMed: Friedl 2002	-	-	-	Germany	-	-	-	-	JPS	gastric polyposis not examined	1	1	Global Variome, with Curator vacancy
00050056	JP53-1	PubMed: Howe 2004, Journal: Howe 2004	-	-	-	(United States)	(American)	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00050057	S5	PubMed: Howe 2001, Journal: Howe 2001	-	F	-	(United States)	(American)	-	-	-	JPS	JPS	1	5	Global Variome, with Curator vacancy
00050058	DI	PubMed: Lipton 2003, Journal: Lipton 2003	-	-	-	-	(European)	-	-	-	?	multiple adenoma phenotype	1	1	Global Variome, with Curator vacancy
00050059	D2	PubMed: Howe 2001, Journal: Howe 2001	-	F	-	(United States)	(American)	-	-	-	JPS	JPS	1	8	Global Variome, with Curator vacancy
00050060	JP7	PubMed: Sayed 2002, Journal: Sayed 2002	-	-	-	(United States)	(American)	-	-	-	JPS	FJP	1	1	Global Variome, with Curator vacancy
00050061	III:2	PubMed: Nieminen 2011, Journal: Nieminen 2011	-	M	-	(Finland)	(European)	-	-	-	HNPCC	FCCX	1	14	Global Variome, with Curator vacancy
00050062	16	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00050063	2384	PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005	-	-	-	(France)	(European)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050064	case 1	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050065	JP155-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050066	case 2	PubMed: Pyatt 2006, Journal: Pyatt 2006	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Global Variome, with Curator vacancy
00050067	FT	PubMed: Zhou 2001, Journal: Zhou 2001	-	-	-	(United States)	European	-	-	-	JPS	-	1	1	Global Variome, with Curator vacancy
00090455	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090456	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090457	-	-	gene panel study on controls	-	-	United States	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	Healthy/Control	-	1	1	Melissa DeRycke
00090459	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090460	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00090461	-	-	gene panel study on colon cancer cases	-	-	United States	-	-	data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database	-	CRC	-	1	1	Melissa DeRycke
00155013	-	-	-	F	-	Australia;(Australia)	-	>79y	-	-	CRC	-	1	1	M Walsh
00164997	-	-	-	-	-	-	-	-	-	-	CRC	-	1	1	Jessada Thutkawkorapin
00183531	29967336-Pat	PubMed: Baert-Desurmont 2018	-	-	-	France	-	-	-	-	?	MSI; MMR-deficient tumours	1	1	Stephanie Baert-Desurmont
00183532	29967336-Pat	PubMed: Baert-Desurmont 2018	-	-	-	France	-	-	-	-	FAP	Adenomatous polyposis (>10 adenomas)	1	1	Stephanie Baert-Desurmont
00183533	29967336-Pat	PubMed: Baert-Desurmont 2018	-	-	-	France	-	-	-	-	CRC	<41y CRC without suggestive familial history	1	1	Stephanie Baert-Desurmont
00183534	29967336-Pat	PubMed: Baert-Desurmont 2018	-	-	-	France	-	-	-	-	JPS	Juvenile polyposis	1	1	Stephanie Baert-Desurmont
00183535	29967336-Pat	PubMed: Baert-Desurmont 2018	-	-	-	France	-	-	-	-	JPS	Juvenile polyposis	1	1	Stephanie Baert-Desurmont
00183536	29967336-Pat	PubMed: Baert-Desurmont 2018	-	-	-	France	-	-	-	-	JPS	Juvenile polyposis	1	1	Stephanie Baert-Desurmont
00183537	29967336-Pat	PubMed: Baert-Desurmont 2018	-	M	-	France	-	-	-	-	JPS	Juvenile polyposis	1	1	Stephanie Baert-Desurmont
00204350	FamPatIII2	PubMed: Joziasse 2011	3-generation family, 1 affected	M	-	Netherlands	-	-	-	-	ASD	Down syndrome, congenital heart defect; unaffected carrier father	1	5	LOVD
00218418	JP10-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	9	Karl Heinimann
00218419	JP10-2	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218420	JP10-3	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218421	JP10-4	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218422	JP10-5	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218423	JP10-6	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218424	JP10-7	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218425	JP10-8	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218426	JP10-9	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218427	JP82-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218428	JP80-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218429	JP64-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann
00218430	JP13-1	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	2	Karl Heinimann
00218431	JP13-2	PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009	-	-	-	(United States)	(American)	-	-	-	JPS	JPS	1	1	Karl Heinimann

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Global Variome shared LOVD

BMPR1A (bone morphogenetic protein receptor, type IA)