All individuals with variants in gene ABCC9

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.

70 entries on 1 page. Showing entries 1 - 70.

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
00016141	-	-	-	?	?	Netherlands	white	-	-	-	-	CMH	originally diagnosed with hypertrophic cardiomyopathy	1	1	Terry Vrijenhoek
00050390	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	global developmental delay, thick lower lip vermilion, behavioural/psychiatric abnormality, round face, generalized hirsutism, brachydactyly syndrome	1	1	Johan den Dunnen
00064737	-	-	-	M	-	Denmark	-	49y	-	-	-	SUD	-	1	1	Sofie Lindgren Christiansen
00081886	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081899	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081900	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081901	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081902	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081903	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081904	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081905	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081906	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081907	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081908	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081909	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081910	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081911	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081912	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081913	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081914	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081915	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081916	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081917	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081918	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081919	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081920	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00081921	-	-	-	-	-	-	-	-	-	-	-	Cantu	-	1	1	Sanne Savelberg
00128406	112	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	F	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00128483	276	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	F	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00163893	-	PubMed: Verhagen 2018, Journal: Verhagen 2018	3-generation family, 1 affected (M), 1 unaffected (F)	M	-	Netherlands	white	-	-	yes	-	CMH	paroxysmal ventricular tachycardia (HP:0004751)	1	1	Judith Verhagen
00248882	-	-	family, 6 affected	F;M	no	Norway	-	-	-	-	-	?	ABCC9-related Intellectual disability Myopathy Syndrome (AIMS)	1	6	Sanne Savelberg
00275986	-	-	-	-	-	-	-	-	-	-	-	Cantu	HP:0001520 HP:0000256 HP:0000280 HP:0001714 HP:0000212	1	1	Fanny Kortüm
00275987	-	-	-	M	-	-	-	53y	-	-	-	Cantu	HP:0001520 HP:0000256 HP:0000280 HP:0000212 HP:0001698 HP:0005113 HP:0001263 HP:0002240 HP:0009767 HP:0008386	1	1	Fanny Kortüm
00275998	-	-	-	F	-	-	-	-	-	-	-	Cantu	HP:0000280 HP:0000998 HP:0001643 HP:0001388 HP:0011342	1	1	Fanny Kortüm
00275999	-	-	-	M	-	-	-	-	-	-	-	Cantu	HP:0000280 HP:0000212 HP:0000998 HP:0001643 HP:0011342	1	1	Fanny Kortüm
00276016	Fam1	PubMed: Smeland 2019	2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives heterozygous carriers	F;M	-	Norway	North Norway	-	-	-	-	?	see paper; ..., dysmorphic facies, intellectual disability, developmental delay, anxiety, myopathy with hypotonia, muscle weakness, fatigability	1	1	Johan den Dunnen
00276017	Fam2	PubMed: Smeland 2019	2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents	F;M	-	Norway	North Norway	-	-	-	-	?	see paper; ..., dysmorphic facies, intellectual disability, developmental delay, anxiety, myopathy with hypotonia, muscle weakness, fatigability	1	1	Johan den Dunnen
00288327	-	-	-	M	-	Italy	-	-	-	-	-	Cantu	HP:0001520 HP:0000256 HP:0000280 HP:0001714 HP:0000212 HP:0000998 HP:0000926 HP:0001388	1	1	Fanny Kortüm
00288328	-	-	-	M	-	-	-	-	-	-	-	Cantu	HP:0000256 HP:0000280 HP:0000212 HP:0004554 HP:0001644	1	1	Fanny Kortüm
00288329	-	-	-	F	-	Italy	-	-	-	-	-	Cantu	HP:0000280 HP:0000212 HP:0000998 HP:0001643 HP:0001631 HP:0002719	1	1	Fanny Kortüm
00288331	-	-	-	M	-	-	-	-	-	-	-	Cantu	HP:0001520 HP:0000256 HP:0000280 HP:0000998 HP:0001714 HP:0001640 HP:0002719	1	1	Fanny Kortüm
00290668	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	10	Mohammed Faruq
00290669	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	28	Mohammed Faruq
00295534	-	-	-	F	-	(Brazil)	-	-	-	-	-	?	HP:0000286 HP:0012471	1	1	Fanny Kortüm
00314911	Trio113	PubMed: Zhu 2015	-	M	-	United States	-	-	-	-	-	?	Coarse facial features, hirsutism, developmental delay, nearly absent fifth fingernails and toenails, large for gestational age, polyhydramnios, low Apgar scores, complications in the newborn period, and complications at 6 weeks of life resulting in apnea, stroke and seizures.	1	1	Johan den Dunnen
00317697	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317698	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317699	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317700	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317701	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317702	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317703	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00317704	-	PubMed: Walsh 2017	-	-	-	United States	-	-	-	-	-	CM	-	1	1	Johan den Dunnen
00320288	BTT1	PubMed: Isbister 2020	-	M	-	Australia	Asia-SE	-	-	-	-	CM	see paper; ..., survived sudden cardiac arrest	1	1	Johan den Dunnen
00417576	-	-	-	-	-	-	-	-	-	-	-	cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome)	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00428407	ABCC9_1	-	-	-	no	-	-	-	-	-	-	?	Seizures Rhabdomyolisis	1	1	Marcello Scala
00428408	ABCC9_2	-	-	-	-	-	-	-	-	-	-	?	Seizures Microcephaly	1	1	Marcello Scala
00428409	ABCC9_3	-	-	-	-	-	-	-	-	-	-	?	Microcephaly Spasticity	1	1	Marcello Scala
00428410	ABCC9_4	-	-	-	-	-	-	-	-	-	-	?	Hip dysplasia	1	1	Marcello Scala
00435232	-	-	-	-	-	-	-	-	-	-	-	?	Developmental dela, intellectual disability, epilepsy, brain MRI abnormalities	1	1	Marcello Scala
00435233	-	-	-	-	-	-	-	-	-	-	-	?	Developmental delay, intellectual disability, epilepsy, fatigability	1	1	Marcello Scala
00435234	-	-	-	-	-	-	-	-	-	-	-	?	Developmental delay, intellectual disability, abnormal behavior	1	1	Marcello Scala
00440420	PED1187.1	PubMed: Nambot 2018	-	-	-	France	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00444319	Pat90	PubMed: Moon 2021	-	-	-	Korea	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00446753	Pat19	PubMed: Miszalski-Jamka 2017	case not solved	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen
00446879	FamLPat136	PubMed: Miszalski-Jamka 2017	case solved	-	-	-	-	-	-	-	-	LVNC	-	1	1	Johan den Dunnen
00464670	-	-	-	F	-	-	-	-	-	-	-	ID	-	1	1	Stephanie Efthymiou
00464671	-	-	-	F	-	-	-	-	-	-	-	ID	-	1	1	Stephanie Efthymiou
00464672	-	-	-	F	-	-	-	-	-	-	-	ID	-	1	1	Stephanie Efthymiou
00464673	-	-	-	M	-	-	-	-	-	-	-	ID	-	2	1	Stephanie Efthymiou

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How to query

Global Variome shared LOVD

ABCC9 (ATP-binding cassette, sub-family C (CFTR/MR...))