Disease #01430 (VSCM (myopathy, visceral (VSCM; megaduodenum and/or megacystis)), OMIM:155310)

Official abbreviation	VSCM
Name	myopathy, visceral (VSCM; megaduodenum and/or megacystis)
OMIM ID	155310
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	68
Phenotype entries for this disease	68
Associated with 1 gene	ACTG2
Associated tissues	-
Disease features	autosomal dominant
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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

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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'

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68 entries on 1 page. Showing entries 1 - 68.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00249760	-	PubMed: Lehtonen 2012	5-generation family, 7 affected (3F, 4M)	F;M	-	Finland	-	-	-	-	-	VSCM	no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249761	family 1	PubMed: Thorson 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	VSCM	megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249762	family 2	PubMed: Thorson 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249763	-	PubMed: Holla 2014	2-generation family, 1 affected, father not available	F	-	Norway	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249764	Fam4-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249765	Fam11-1	PubMed: Wangler 2014	-	-	-	-	-	-	-	-	-	VSCM	-	ACTG2	ACTG2	1	1	Johan den Dunnen
00249766	Fam12-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249767	Fam14-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249768	Fam16-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249769	Fam25-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249770	Fam26-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249771	Fam28-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249772	Fam29-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	M	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249773	Fam30-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249774	Fam35-1	PubMed: Wangler 2014	2-generation family, 1 affected, unaffected non-carrier parents	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249775	Fam13-1	PubMed: Wangler 2014	2-generation family, 1 affected, carrier mother	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249776	Fam19-4	PubMed: Wangler 2014	2-generation family, 2 affected sisters	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	2	Johan den Dunnen
00249777	Fam34-1	PubMed: Wangler 2014	4-generation family, 6 affected (3F, 3M)	F;M	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249778	Fam17-1	PubMed: Wangler 2014	-	-	-	-	-	-	-	-	-	VSCM	-	ACTG2	ACTG2	1	1	Johan den Dunnen
00249779	Family 1	PubMed: Tuzovic 2015	2-generation family, 2 affected (F, M), unaffected non-carrier parents	F;M	-	United States	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249780	Family 2	PubMed: Tuzovic 2015	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249781	Family 3	PubMed: Tuzovic 2015	2-generation family, 1 affected, unaffected non-carrier parents	F	-	United States	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249782	-	PubMed: Klar 2015	1-generation family, 11 affected (5F, 6M)	F;M	-	Sweden	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249783	S10	PubMed: Matera 2016	-	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249784	S13	PubMed: Matera 2016	-	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249785	S16	PubMed: Matera 2016	-	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249786	S8	PubMed: Matera 2016	-	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249787	S9	PubMed: Matera 2016	-	M	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249788	S11	PubMed: Matera 2016	-	M	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249789	S12	PubMed: Matera 2016	-	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249790	S14	PubMed: Matera 2016	-	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249791	S24	PubMed: Matera 2016	-	M	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249792	S83	PubMed: Matera 2016	-	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249793	S1	PubMed: Halim 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249794	S2	PubMed: Halim 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249795	S3	PubMed: Halim 2016	2-generation family, 1 affected	M	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249796	S4	PubMed: Halim 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249797	S5	PubMed: Halim 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249798	S6	PubMed: Halim 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249799	S7	PubMed: Halim 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249800	S8	PubMed: Halim 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249801	Family 2	PubMed: Moreno 2016	2-generation family, 1 affected	M	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249802	Family 3	PubMed: Moreno 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249803	Family 4	PubMed: Moreno 2016	2-generation family, 1 affected	M	-	-	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249804	Family 5	PubMed: Moreno 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249805	Family 6	PubMed: Moreno 2016	2-generation family, 1 affected	F	-	-	-	-	-	-	-	VSCM	-	ACTG2	ACTG2	1	1	Johan den Dunnen
00249806	Patient 1	PubMed: Lu 2016	2-generation family, 1 affected	F	-	China	-	-	-	-	-	VSCM	megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249807	Patient 2	PubMed: Lu 2016	2-generation family, 1 affected	M	-	China	-	-	-	-	-	VSCM	megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249808	Patient 3	PubMed: Lu 2016	2-generation family, 1 affected	F	-	China	-	-	-	-	-	VSCM	megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249809	Patient 4	PubMed: Lu 2016	2-generation family, 1 affected	M	-	China	-	-	-	-	-	VSCM	megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249810	-	PubMed: Milunsky 2017	2-generation family, 1 affected fetus	-	-	United States	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249811	FamCase1	PubMed: Milunsky 2017	2-generation family, 2 affected	F	-	United States	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249812	Case 3	PubMed: Milunsky 2017	2-generation family, 1 affected	F	-	United States	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249813	Case 4	PubMed: Milunsky 2017	2-generation family, 1 affected	M	-	United States	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249814	FamBCase5	PubMed: Milunsky 2017	2-generation family, 3 affected (3M)	M	-	United States	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249815	Fam-mother	PubMed: Whittington 2017	2-generation family, affected mother/son	F	-	United States	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249816	Fam-son	PubMed: Whittington 2017	son	M	-	United States	-	-	-	-	-	VSCM	-	ACTG2	ACTG2	1	1	Johan den Dunnen
00249817	-	PubMed: Korgali 2018	-	F	-	Turkey	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249818	1	PubMed: Lee 2019	-	F	-	-	-	-	-	-	-	VSCM	gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249819	2	PubMed: Lee 2019	-	F	-	-	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249820	Fam1	PubMed: Ravenscroft 2018	3-generation family, 4 affected (4M)	M	-	Australia	-	-	-	-	-	VSCM	megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249821	Pat2	PubMed: Ravenscroft 2018	2-generation family, 1 affected	M	-	Australia	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249822	Pat3	PubMed: Ravenscroft 2018	2-generation family, 1 affected	F	-	Australia	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); no megacystis (-HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249823	Pat4	PubMed: Ravenscroft 2018	2-generation family, 1 affected	M	-	Australia	-	-	-	-	-	VSCM	gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249824	Pat5	PubMed: Ravenscroft 2018	2-generation family, 1 affected	M	-	Australia	-	-	-	-	-	VSCM	megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249825	Pat6	PubMed: Ravenscroft 2018	2-generation family, 1 affected	M	-	Australia	-	-	-	-	-	VSCM	megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249826	Pat19	PubMed: Ravenscroft 2018	2-generation family, 1 affected	F	-	Australia	-	-	-	-	-	VSCM	microcolon (HP:0004388); megacystis (HP:0000021); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen
00249827	Pat1	PubMed: Collins 2019	2-generation family, 1 affected	M	-	United States	-	-	-	-	-	VSCM	no microcolon (-HP:0004388); gastrointestinal problems (HP:0011024)	ACTG2	ACTG2	1	1	Johan den Dunnen

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Global Variome shared LOVD

SMARCA2 (SWI/SNF related, matrix associated, actin ...)