All individuals with variants in gene RYR1

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.

999 entries on 10 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10		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
00011457	Fam2	PubMed: Ellard 2015, Journal: Ellard 2015	couple, 3 pregnancies terminated following 20wk scan showing fetal abnormalities	?	no	United Kingdom (Great Britain)	mixed	00y	-	-	arthrogryposis	multiple pterigia, arthrogryposis, pulmonary hypoplasia, hydrops fetalis	2	3	Hana Lango-Allen
00036686	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036687	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036688	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036689	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036690	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036691	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036692	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036693	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036694	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036695	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036696	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036697	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036698	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036699	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036700	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036701	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036702	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036703	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036704	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036705	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036706	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036707	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036708	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036709	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036710	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036711	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036712	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036714	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036715	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036716	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036717	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	2	1	Andreas Laner
00036718	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036719	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036720	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036721	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036722	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036723	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036724	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia; other patient: malignant hyperthermia, anaesthetic problems	1	1	Andreas Laner
00036725	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036726	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036727	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036728	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036729	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036730	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036731	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036732	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036733	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036734	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036735	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036736	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036737	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036738	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036739	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036740	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036741	-	-	-	-	-	Germany	-	-	-	-	?	suspected multiple minicore myopathy,relapsing rhabdomyolysis, Scapula alata, high palate, cardiac arrhythmias	1	1	Andreas Laner
00036742	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036743	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036744	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036745	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036746	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036747	-	-	-	-	-	Germany	-	-	-	-	?	since childhood decreased load-carrying capacity, weakness of hip muscles and dorsal flexor muscles (foot), Gowers sign positive, mild exertional dyspnea, mild dysphagia	1	1	Andreas Laner
00036748	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036749	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036750	-	-	-	-	-	Germany	-	-	-	-	?	suspected multiple minicore myopathy,relapsing rhabdomyolysis, Scapula alata, high palate, cardiac arrhythmias	1	1	Andreas Laner
00036751	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036752	-	-	-	-	-	Germany	-	-	-	-	?	suspected multiple minicore myopathy,relapsing rhabdomyolysis, Scapula alata, high palate, cardiac arrhythmias	1	1	Andreas Laner
00036753	-	-	-	-	-	Germany	-	-	-	-	?	suspected multiple minicore myopathy,relapsing rhabdomyolysis, Scapula alata, high palate, cardiac arrhythmias	1	1	Andreas Laner
00036754	-	-	-	-	-	Germany	-	-	-	-	-	-	1	1	Andreas Laner
00036755	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036756	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036757	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036758	-	-	-	-	-	Germany	-	-	-	-	?	mitochondrial gene defect, Ryanodin-receptor	1	1	Andreas Laner
00036759	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, status post anaesthetic accident	1	1	Andreas Laner
00036760	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, status post anaesthetic accident	1	1	Andreas Laner
00036761	-	-	-	-	-	Germany	-	-	-	-	?	malignant hyperthermia, status post anaesthetic accident	1	1	Andreas Laner
00054662	Pat5/PatD9	PubMed: O'Grady 2016, PubMed: Cummings 2017	2-generation family, unaffected heterozygous carrier parents	M	-	Australia	-	>32y	-	-	MDC	infantile hypotonia and gross motor delay, mild facial weakness, mild ptosis, contractures, scoliosis, biventricular impairment, restrictive lung disease; IHC alphaDG; histology dystrophic	2	1	Sandra Cooper
00054667	-	PubMed: O'Grady 2016	2-generation family, unaffected heterozygous carrier parents	M	-	Australia	-	>18y	-	-	MDC	congenital hip dislocation, gross motor delay, walked just prior to 6mo, mild facial weakness; CPK normal; IHC alphaDG; histology dystrophic	2	1	Sandra Cooper
00054669	-	PubMed: O'Grady 2016	2-generation family, unaffected heterozygous carrier parents	M	-	Australia	-	>29y	-	-	MDC	infantile hypotonia, gross motor delay, walked age 4y, non-ambulant from 11y, facial weakness, ophthalmoplegia, contractures, scoliosis; CPK normal; IHC alphaDG; histology non-specific	2	1	Sandra Cooper
00054686	Pat104	PubMed: O'Grady 2016	-	M	-	Australia	-	>06y	-	-	MDC	congenital hip dislocation, gross motor delay, unable to walk, mild facial weakness, mild scoliosis; CPK normal; histology dystrophic	1	1	Sandra Cooper
00065309	-	Carmona ESHG2016 P10.38	2-generation family, 2 affected brothers, Pat1	M	no	Spain	-	>05y	-	-	MMD	-	2	1	Johan den Dunnen
00080842	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	MMD	Minicore myopathy with external ophthalmoplegia (OMIM:255320)	1	1	Daniel Trujillano
00092216	-	-	-	M	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092218	-	-	-	F	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092219	-	-	-	M	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092220	-	-	-	F	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092221	-	-	-	M	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092222	-	-	-	F	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092223	-	-	-	M	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092224	-	-	-	F	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092225	-	-	-	F	no	Brazil	white, African	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092226	-	-	-	F	no	Brazil	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092227	-	-	-	F	no	Brazil	white, African	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092228	-	-	-	M	no	Brazil	white, African	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092229	-	-	-	M	no	Argentina	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092230	-	-	-	F	no	Argentina	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092231	-	-	-	F	no	United States	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092232	-	-	-	F	no	United States	African	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092233	-	-	-	F	no	United States	white	-	-	-	CNM	-	2	1	Osorio Abath Neto
00092234	-	-	-	F	no	United States	white	-	-	-	CNM	-	2	1	Osorio Abath Neto

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Global Variome shared LOVD

RYR1 (ryanodine receptor 1 (skeletal))