All individuals with variants in gene SDHA

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.

78 entries on 1 page. Showing entries 1 - 78.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00036998	-	-	-	-	-	Germany	-	-	-	-	-	?	normal birth and psychomotor development, abnormal motor function in the left arm at age 15 month, bilateral calcifications in basal ganglia in CT of brain	1	1	Andreas Laner
00036999	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00037000	-	-	-	-	-	Germany	-	-	-	-	-	?	pronounced hypotonia, motor developmental delay, failure to thrive, MRI: hypomyelination, muscle biopsy: complex 2 deficiency; child of healthy non consanguineous parents: other patient: suspected familiar tumour disease, GIST at the age of 38	1	1	Andreas Laner
00072357	-	-	OMIM600857:0002; 1 isolated case	-	-	-	-	-	-	-	-	LS	-	2	1	Tonino Ercolino
00072358	-	-	1 isolated case	-	-	-	-	-	-	-	-	LS	Epilepsy, psychomotor retardation, and tetraspasticity.	2	1	Jean-Pierre Bayley
00072359	-	-	1 family 2 affected	-	-	-	-	-	-	-	-	OPA	Ataxia, Myopathy	1	1	Tonino Ercolino
00072360	-	-	OMIM600857:0001; 1 family 2 affected	-	-	-	-	-	-	-	-	LS	Leukodystrophy	2	1	Tonino Ercolino
00072361	-	-	OMIM600857:0004	-	-	-	-	-	-	-	-	LS	-	2	1	Tonino Ercolino
00072963	-	-	1 isolated case	-	-	France	-	-	-	-	-	PGL	First SDHA-associated paraganglioma	1	1	Jean-Pierre Bayley
00072964	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Jean-Pierre Bayley
00072965	-	-	-	-	-	-	-	-	-	-	-	?	-	1	2	Jean-Pierre Bayley
00072966	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Jean-Pierre Bayley
00072967	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Jean-Pierre Bayley
00072985	-	-	OMIM600857:0004; 1 family 15 affected	-	-	-	Bedouin	-	-	-	-	CM	familial neonatal isolated cardiomyopathy; 15 Bedouin patients with familial neonatal isolated cardiomyopathy	1	1	Jean-Pierre Bayley
00073069	-	-	5 isolated cases	-	-	-	Dutch	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00073070	-	-	1 isolated case	-	-	France	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00073071	-	-	1 isolated case	-	-	Italy	-	-	-	-	-	cancer	-	2	1	Jean-Pierre Bayley
00073072	-	-	1 isolated case	-	-	Italy	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00073073	-	-	1 isolated case	-	-	-	-	-	-	-	-	LS	death in infancy respiratory infection and severe hypoglycemia	1	1	Jean-Pierre Bayley
00073084	-	-	1 isolated case	-	-	-	-	-	-	-	-	cancer	Pediatric-type GIST.	1	1	Jean-Pierre Bayley
00073085	-	-	1 isolated case	-	-	-	-	-	-	-	-	cancer	Pediatric-type GIST.	1	1	Jean-Pierre Bayley
00073086	-	-	1 isolated case	-	-	-	-	-	-	-	-	cancer	Pediatric-type GIST.	1	1	Jean-Pierre Bayley
00073096	-	-	-	-	-	-	-	-	-	-	-	LS	-	2	1	Herma Renkema
00073097	-	-	-	-	-	-	-	-	-	-	-	LS	no basal ganglia involvement	2	1	Herma Renkema
00073099	-	-	This patient is the same as described by PubMed: Horvath et al. (2006)	-	-	-	-	-	-	-	-	LS	-	2	1	Herma Renkema
00079373	-	PubMed: Alston	mixed ethnicity parents	-	-	United Kingdom (Great Britain)	-	-	-	-	-	?	Cardiomyopathy	2	1	Jean-Pierre Bayley
00079375	-	PubMed: Belinsky	Wild type GIST	-	-	United States	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00079376	-	PubMed: Belinsky, PubMed: Miettinen	Wild type GIST, SDHA positive gist	-	-	United States	-	-	-	-	-	cancer	-	2	2	Jean-Pierre Bayley
00079377	-	PubMed: Belinsky, PubMed: Pantaleo	Wild type GIST	-	-	United States	-	-	-	-	-	cancer	Pheo;PGL	1	2	Jean-Pierre Bayley
00079391	-	PubMed: von Dobschuetz	-	-	-	-	-	-	-	-	-	PGL	Hemangiopericytoma/PGL	1	1	Jean-Pierre Bayley
00079392	-	PubMed: von Dobschuetz	-	-	-	-	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079393	-	PubMed: Dwight	1 families 1 affected; Somatic	-	-	Australia	-	-	-	-	-	?	-	2	1	Jean-Pierre Bayley
00079401	-	PubMed: Gill	-	-	-	Australia	-	-	-	-	-	?	Unilateral Pheo	2	1	Jean-Pierre Bayley
00079420	-	PubMed: Ma	11 years old	-	-	China	-	-	-	-	-	ENC	primary bladder PGL	2	1	Jean-Pierre Bayley
00079421	-	PubMed: Mason	loss of SDHA staining	-	-	Canada; United States	-	-	-	-	-	PGL	-	2	1	Jean-Pierre Bayley
00079422	-	PubMed: Miettinen	SDHA positive GIST	-	-	United States	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00079427	-	PubMed: Miettinen	SDHA negative GIST	-	-	United States	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00079428	-	PubMed: Miettinen	SDHA negative GIST	-	-	United States	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00079429	-	PubMed: Miettinen	SDHA negative GIST	-	-	United States	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00079430	-	PubMed: Miettinen	SDHA negative GIST	-	-	United States	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00079431	-	PubMed: Miettinen	SDHA positive GIST	-	-	United States	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00079433	-	PubMed: Pantaleo	-	-	-	Italy	-	-	-	-	-	cancer	-	1	1	Jean-Pierre Bayley
00079434	-	PubMed: Pantaleo	-	-	-	Italy	-	-	-	-	-	cancer	Metastatic	2	1	Jean-Pierre Bayley
00079441	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079442	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079443	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079444	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079447	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	Pheo;PGL	1	1	Jean-Pierre Bayley
00079451	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	2	Jean-Pierre Bayley
00079453	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079454	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079455	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079456	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079457	-	PubMed: Rattenberry	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079464	-	PubMed: Welander, PubMed: Welander	20 year old female	-	-	Sweden	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00079465	-	PubMed: Welander	-	-	-	Sweden	-	-	-	-	-	PGL	Pheo;PGL	1	1	Jean-Pierre Bayley
00079466	-	PubMed: Dénes	-	-	-	-	-	-	-	-	-	PGL	-	1	1	Jean-Pierre Bayley
00092277	-	PubMed: Boikos	Carney triad = paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas	M	?	United States	-	-	-	-	-	Carney complex	Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas	1	1	Jean-Pierre Bayley
00092278	-	PubMed: Boikos	Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas	F	?	United States	-	-	-	-	-	Carney complex	Carney triad, the association of paragangliomas/pheochromocytomas, gastrointestinal stromal tumors and pulmonary chondromas	1	1	Jean-Pierre Bayley
00219174	Proband-Fam	PubMed: Zhang 2018	3-generation family, proband, affected younger brother (41y) and niece (17y), mother (38y) died from sudden cardiac death	F;M	?	China	-	-	-	-	-	CMD	Left atrial enlargement (HP:0031295), abnormal left ventricle morphology (HP:0001711), syncope (HP:0001279)	1	3	Jilani Jawaid
00264003	-	-	-	M	-	-	-	-	-	-	-	MINAS	GIST (gastric), 66y (Loss of SDHB immunostaining and LOH SDHA); Breast ductal carcinoma in situ, 70y	1	1	James Whitworth
00264004	-	-	-	F	-	-	-	-	-	-	-	MINAS	GIST (gastric), 34y (Loss of SDHB immunostaining and LOH SDHA)	1	1	James Whitworth
00289278	-	-	-	F	-	-	-	-	-	-	-	?	Paraganglioma (HP:0002668); Abnormality of the skin (HP:0000951)	1	1	Andreas Laner
00293835	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	5	Mohammed Faruq
00293836	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	11	Mohammed Faruq
00301091	-	-	-	F	-	Germany	-	-	-	-	-	?	Multifocal breast carcinoma (HP:0006625)	1	1	Andreas Laner
00320297	BLB1	PubMed: Isbister 2020	-	-	-	Australia	-	-	-	-	-	CM	survived sudden cardiac arrest	1	1	Johan den Dunnen
00374846	R-0564	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00376435	Pat215	PubMed: Nguyen 2021	-	-	-	Viet Nam	-	-	-	-	-	CMD	-	1	1	Johan den Dunnen
00396837	-	PubMed: Kim 2021	-	-	-	Korea	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00410573	Pat35	PubMed: Schuermans 2022	analysis 329 adult patients suffering from undiagnosed rare disease	M	-	Belgium	-	-	-	-	-	?	see paper; ..., onset adolescence, pheochromocytoma, family history	1	1	Johan den Dunnen
00430355	MINAS_17	-	-	F	?	Brazil	-	-	-	-	-	MINAS	Gastrointestinal Stromal Tumor (HP:0100723)	1	1	Giovana Torrezan
00436397	-	-	-	M	no	Hungary	-	-	-	-	-	cancer	adrenocortical cancer	1	1	Anikó Bozsik
00446840	Pat139	PubMed: Miszalski-Jamka 2017	case solved	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen
00446841	Pat140	PubMed: Miszalski-Jamka 2017	case solved	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen
00446866	Pat175	PubMed: Miszalski-Jamka 2017	case solved	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen
00449554	Pat14	PubMed: Pan 2024, Journal: Pan 2024	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	NDD	see paper; ..., C-section due to maternal hypertension and failure to progress, maternal diabetes; developmental delay and/or intellectual disability; delayed speech, delayed language; no autism; attention deficit hyperactivity disorder; hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; undescended testes; no gastrointestinal anomalies; no dysmorphic features; neonatal thrombocytopenia	1	1	Johan den Dunnen
00461278	F130P138II-1	PubMed: Zheng 2024	-	M	-	China	-	-	-	-	-	OPA	see paper; ..., congenital onset; best corrected visual acuity (first visit) OD 0.05/OS finger count; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc;	2	1	Johan den Dunnen

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Global Variome shared LOVD

SDHA (succinate dehydrogenase complex, subunit A, f...)