Leiden Muscular Dystrophy pages
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Variant listing based on patient origin
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ACTA1 (ACTin, Alpha 1 (skeletal muscle))
AGRN (Agrin)
ANO5 (Anoctamin 5)
BAG3 (BCL2-associated AthanoGene 3)
BIN1 (Bridging INtegrator 1)
CAPN3 (Calpain-3)
CAV3 (Caveolin-3)
CFL2 (Cofilin 2)
CNTN1 (Contactin 1)
COL6A1 (collagen type VI alpha 1)
COL6A2 (collagen type VI alpha 2)
COL6A3 (collagen type VI alpha 3)
DAG1 (Dystrophin-Associated Glycoprotein 1)
DES (Desmin)
DMD (Duchenne Muscular Dystrophy)
DMD_d (Duchenne Muscular Dystrophy (whole exon changes))
DOK7 (Docking protein 7)
DPM3 (Dolichyl-Phosphate Mannosyltransferase polypept...)
DTNA (Dystrobrevin alpha)
DYSF (Dysferlin)
EMD (Emery-Dreifuss muscular dystrophy (emerin))
FHL1 (Four and a Half LIM domains 1)
FKRP (Fukutin-Related Protein)
FKTN (Fukutin)
FLNC (Filamin C)
GK (Glycerol Kinase)
GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetyl...)
ISCU (Iron-Sulfur cluster scaffold homolog (E. coli))
ITGA7 (Integrin, alpha 7)
LAMA2 (Laminin-alpha 2 (merosin))
LAMP2 (Lysosomal-associated membrane protein 2)
LARGE (LARGE like-glycosyltransferase)
LDB3 (LIM domain binding 3 (ZASP))
LMNA (Lamin A/C)
MATR3 (Matrin 3)
MSTN (Myostatin)
MTM1 (Myotubularin 1)
MTMR14 (Myotubularin related protein 14)
MYOT (Myotilin (Titin immunoglobulin domain))
NEB (Nebulin)
PABPN1 (PolyA binding protein, nuclear 1)
PLEC (Plectin)
POMGNT1 (Protein O-linked Mannose beta1,2-N-acetylGlucos...)
POMT1 (Protein O-Mannosyltransferase 1)
POMT2 (Protein O-Mannosyltransferase 2)
PTRF (Polymerase I and Transcript Release Factor (cav...)
RYR1 (RYanodine Receptor 1 (skeletal))
SEPN1 (Selenoprotein 1)
SGCA (Sarcoglycan-alpha)
SGCB (Sarcoglycan-beta)
SGCD (Sarcoglycan-delta)
SGCE (Sarcoglycan-epsilon)
SGCG (Sarcoglycan-gamma)
SGCZ (Sarcoglycan-zeta)
SMN1 (Survival Motor Neuron 1)
SSPN (Sarcospan)
SYNE1 (Spectrin repeat containing, Nuclear Envelope 1)
SYNE2 (Spectrin repeat containing, Nuclear Envelope 2)
TCAP (Titin-cap (telethonin))
TNNI2 (Troponin I type 2)
TNNT1 (Troponin T type 1)
TNNT3 (Troponin T type 3)
TPM2 (Tropomyosin 2)
TPM3 (Tropomyosin 3)
TRIM32 (Tripartite motif-containing 32)
TTN (Titin)
VCP (Valosin-containing protein)
VMA21 (VMA21 vacuolar H+-ATPase homolog (S. cerevisiae))
ZMPSTE24 (Zinc MetalloPeptidase (STE24 homolog, yeast))
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Geographic origin (Optional)
? (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)
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)
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)
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(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
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(Ireland)
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(Israel)
Italy
(Italy)
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(Jamaica)
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(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
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)
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 Antilles
(Netherlands Antilles)
(Netherlands)
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 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)
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)
Senegal
(Senegal)
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
(St. Helena)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
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))
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Geographic origin = geographic origin of patient; FR = France, (FR) = reported by laboratory in France (origin patient not sure)
Ethnic origin (Optional)
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