Global Variome shared LOVD
RYR1 (ryanodine receptor 1 (skeletal))
LOVD v.3.0 Build 30b [
Current LOVD status
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Curators:
Jorge Oliveira
and
Johan den Dunnen
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This database is one of the gene variant databases from the
Leiden Muscular Dystrophy pages
The variants shown are described using the NM_000540.2 transcript reference sequence.
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.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant 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.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
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
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'
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2288 entries on 23 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-/.
-
c.-108T>C
r.(?)
p.(=)
Unknown
-
benign
g.38924362T>C
g.38433722T>C
-
-
RYR1_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.-108T>C
r.(?)
p.(=)
Unknown
-
benign
g.38924362T>C
g.38433722T>C
g.43616202C>T
-
RYR1_000039
5'UTR
PubMed: Robinson 2006
-
rs4632259
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
?
c.?
r.0
p.0?
Maternal (inferred)
-
VUS
g.?
-
-
-
RYR1_000282
-
PubMed: Zhou 2006
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MMEO
-
PubMed: Jungbluth 2005
;
PubMed: Zhou 2006
brother affected
F
-
United Kingdom (Great Britain)
-
>8y
-
-
-
1
Jorge Oliveira
?/.
?
c.?
r.0
p.0?
Maternal (inferred)
-
VUS
g.?
-
-
-
RYR1_000282
-
PubMed: Zhou 2006
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MMEO
P1-1; F2, II:2; P1; P23
PubMed: Jungbluth 2005
;
PubMed: Zhou 2006
;
PubMed: Zhou 2006b
;
PubMed: Zhou 2007
sister affected
M
-
United Kingdom (Great Britain)
-
>10y
-
-
-
1
Jorge Oliveira
+/.
1
c.35_37delinsCG
r.35_37delinscg
p.Phe12Serfs*106
Maternal (confirmed)
-
pathogenic
g.38924504_38924506delinsCG
g.38433864_38433866delinsCG
34del, 37C>G
-
RYR1_000323
low expression at mRNA level
PubMed: Monnier 2008
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
CCD
-
PubMed: Monnier 2008
-
F
-
France
-
>61y
-
-
-
1
Jorge Oliveira
+/.
-
c.38T>G
r.(?)
p.(Leu13Arg)
Unknown
-
pathogenic
g.38924507T>G
g.38433867T>G
-
-
RYR1_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.38T>G
r.(?)
p.(Leu13Arg)
Unknown
-
pathogenic
g.38924507T>G
g.38433867T>G
-
-
RYR1_000134
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
F
-
Japan
-
>34y
-
-
-
1
Johan den Dunnen
-/.
1i
c.45+300T>C
r.(=)
p.(=)
Unknown
-
benign
g.38924814T>C
g.38434174T>C
g.43616654C>T
-
RYR1_000330
-
PubMed: Robinson 2006
-
rs919781
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.46-2126_46-2125insCT
r.(=)
p.(=)
Unknown
-
likely benign
g.38929259_38929260insCT
-
RYR1(NM_000540.3):c.46-2126_46-2125insCT
-
RYR1_001259
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.46-10G>A
r.(=)
p.(=)
Unknown
-
likely pathogenic
g.38931375G>A
-
RYR1(NM_000540.2):c.46-10G>A (p.(=))
-
RYR1_001103
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.51_53del
r.(?)
p.(Asp17del)
Unknown
-
pathogenic
g.38931390_38931392del
g.38440750_38440752del
51_53delTGA
-
RYR1_000254
-
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
PubMed: Ibarra 2006
-
M
-
Japan
-
>77y
-
-
-
1
Johan den Dunnen
?/.
-
c.88G>A
r.(?)
p.(Glu30Lys)
Unknown
-
VUS
g.38931427G>A
-
RYR1(NM_001042723.1):c.88G>A (p.(Glu30Lys))
-
RYR1_001216
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.89A>T
r.(?)
p.(Glu30Val)
Unknown
-
VUS
g.38931428A>T
-
RYR1(NM_000540.3):c.89A>T (p.(Glu30Val))
-
RYR1_001283
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.94C>T
r.(?)
p.(Leu32Phe)
Paternal (confirmed)
-
VUS
g.38931433C>T
g.38440793C>T
-
-
RYR1_000422
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
MYOP
-
-
-
M
-
United States
-
-
-
-
-
1
Tom Winder
+/.
2
c.97A>G
r.(?)
p.(Lys33Glu)
Unknown
-
pathogenic
g.38931436A>G
g.38440796A>G
A97G
-
RYR1_000300
Conserved residue; not in 200 normal controls
PubMed: D'Arcy 2008
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
MHS
patient
PubMed: D'Arcy 2008
King-Denborough syndrome
F
-
-
-
>27y
-
-
-
1
Jorge Oliveira
?/.
-
c.100C>G
r.(?)
p.(Leu34Val)
Unknown
-
VUS
g.38931439C>G
-
RYR1(NM_000540.2):c.100C>G (p.(Leu34Val))
-
RYR1_001217
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.(103T>C?)
r.(?)
p.(Cys35Arg)
Unknown
-
pathogenic
g.?
-
-
-
RYR1_000000
-
PubMed: Heytens 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
PubMed: Heytens 2007
-
M
-
Belgium
-
-
-
-
-
1
Jorge Oliveira
+/.
2
c.103T>C
r.(?)
p.(Cys35Arg)
Parent #1
-
pathogenic
g.38931442T>C
g.38440802T>C
-
-
RYR1_000027
-
Lynch (1997)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Lynch (1997)
-
-
-
Italy
Sicilian
-
-
-
-
1
Johan den Dunnen
+/.
2
c.103T>C
r.(?)
p.(Cys35Arg)
Parent #2
-
pathogenic
g.38931442T>C
g.38440802T>C
-
-
RYR1_000027
-
Lynch (1997)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Lynch (1997)
-
-
-
Italy
Sicilian
-
-
-
-
1
Johan den Dunnen
+/.
2
c.103T>C
r.(?)
p.(Cys35Arg)
Unknown
-
pathogenic
g.38931442T>C
g.38440802T>C
-
-
RYR1_000027
-
Monnier (2005)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Monnier (2005)
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.103T>C
r.(?)
p.Cys35Arg
Unknown
-
NA
g.38931442T>C
g.38440802T>C
-
-
RYR1_000027
in vitro functional study shows altered ryanodine receptor function; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/)
European MH Group genetic testing guidelines May 2005
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.103T>C
r.(?)
p.(Cys35Arg)
Unknown
ACMG
pathogenic
g.38931442T>C
g.38440802T>C
-
-
RYR1_000027
ACMG PS4_M, PM1, PP1_St, PP3_M
Journal: Johnston 2020
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.112G>A
r.(?)
p.(Ala38Thr)
Unknown
-
VUS
g.38931451G>A
g.38440811G>A
RYR1(NM_000540.3):c.112G>A (p.(Ala38Thr))
-
RYR1_000854
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.122T>C
r.(?)
p.(Phe41Ser)
Parent #2
ACMG
likely pathogenic (recessive)
g.38931461T>C
g.38440821T>C
-
-
RYR1_001079
ACMG PM2, PM3, PP3, PP5
PubMed: Natera-de Benito 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene or gene panel
MYOP
Fam21Pat24
PubMed: Natera-de Benito 2021
patient
F
-
Spain
-
15d
-
-
-
1
Johan den Dunnen
+/.
2
c.130C>T
r.(?)
p.(Arg44Cys)
Unknown
-
pathogenic
g.38931469C>T
g.38440829C>T
-
-
RYR1_000213
-
PubMed: Tammaro 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
PubMed: Tammaro 2003
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.130C>T
r.(?)
p.(Arg44Cys)
Unknown
ACMG
likely pathogenic
g.38931469C>T
g.38440829C>T
-
-
RYR1_000213
ACMG PS3_M, PS4_M, PM1, PP3_M
Journal: Johnston 2020
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.131G>A
r.131g>a
p.Arg44His
Unknown
-
pathogenic
g.38931470G>A
g.38440830G>A
-
-
RYR1_000076
-
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MHS
-
PubMed: Robinson 2006
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.131G>A
r.(?)
p.(Arg44His)
Unknown
-
pathogenic
g.38931470G>A
g.38440830G>A
-
-
RYR1_000076
-
PubMed: Galli 2006
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
MHS
-
PubMed: Galli 2006
-
-
-
Italy
-
-
-
-
-
1
Jorge Oliveira
+?/.
-
c.131G>A
r.(?)
p.(Arg44His)
Parent #1
-
likely pathogenic (recessive)
g.38931470G>A
g.38440830G>A
-
-
RYR1_000076
ACMG PP3, PM2, PM5, PM1, PP2
PubMed: Radziwonik-Fraczyk 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
89-gene panel
NMD
Pat28
PubMed: Radziwonik-Fraczyk 2024
patient
M
-
Poland
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.143T>C
r.(?)
p.(Leu48Pro)
Unknown
-
VUS
g.38931482T>C
g.38440842T>C
-
-
RYR1_000713
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.152C>A
r.(?)
p.(Thr51Asn)
Parent #1
-
likely pathogenic
g.38931491C>A
g.38440851C>A
-
-
RYR1_000309
not in 100 controls
PubMed: Gillies 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
PubMed: Gillies 2008
-
-
-
Australia
-
-
-
-
-
1
Jorge Oliveira
?/.
-
c.152C>A
r.(?)
p.(Thr51Asn)
Unknown
ACMG
VUS
g.38931491C>A
g.38440851C>A
-
-
RYR1_000309
ACMG PM1
Journal: Johnston 2020
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2i
c.165+74G>C
r.(=)
p.(=)
Unknown
-
benign
g.38931578G>C
g.38440938G>C
g.43623418C>G
-
RYR1_000332
-
PubMed: Robinson 2006
-
rs2304145
Germline
-
0.03
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.166-19C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.38932970C>T
g.38442330C>T
RYR1(NM_000540.2):c.166-19C>T (p.(=))
-
RYR1_000611
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.177C>T
r.(?)
p.(Pro59=)
Unknown
-
likely benign
g.38933000C>T
g.38442360C>T
RYR1(NM_000540.2):c.177C>T (p.P59=)
-
RYR1_000612
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.178G>A
r.178g>a
p.Asp60Asn
Unknown
-
pathogenic
g.38933001G>A
g.38442361G>A
-
-
RYR1_000077
-
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MHS
-
PubMed: Robinson 2006
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.178G>A
r.(?)
p.(Asp60Asn)
Parent #2
-
pathogenic
g.38933001G>A
g.38442361G>A
-
-
RYR1_000077
-
PubMed: Wu 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCD
-
PubMed: Wu 2006
-
F
-
Japan
-
>5y
-
-
-
1
Jorge Oliveira
+?/.
3
c.178G>A
r.(?)
p.(Asp60Asn)
Unknown
-
likely pathogenic
g.38933001G>A
g.38442361G>A
-
-
RYR1_000077
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
MYOP
-
-
-
F
-
United States
-
-
-
-
-
1
Tom Winder
+/.
3
c.190T>C
r.190u>c
p.Cys64Arg
Unknown
-
pathogenic
g.38933013T>C
g.38442373T>C
-
-
RYR1_000395
not in 200 control chromosomes
PubMed: Kraeva 2011
-
-
Germline
-
0/200
BtsCI+
-
-
DNA, RNA
PCR, RT-PCR, SEQ
-
-
MHS
-
PubMed: Kraeva 2011
-
M
-
Canada
-
-
-
-
-
1
Natalia Kraeva
+/.
3
c.212C>A
r.(?)
p.(Ser71Tyr)
Unknown
-
pathogenic
g.38933035C>A
g.38442395C>A
-
-
RYR1_000265
-
PubMed: Galli 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ, DHPLC
-
-
MHS
-
PubMed: Galli 2006
sib of patient 19
-
-
Italy
-
-
-
-
-
1
Jorge Oliveira
+/.
3
c.212C>A
r.(?)
p.(Ser71Tyr)
Unknown
-
pathogenic
g.38933035C>A
g.38442395C>A
-
-
RYR1_000265
-
PubMed: Galli 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ, DHPLC
-
-
MHS
-
PubMed: Galli 2006
sib of patient 3
-
-
Italy
-
-
-
-
-
1
Jorge Oliveira
+/.
3
c.212C>A
r.212c>a
p.Ser71Tyr
Paternal (confirmed)
-
pathogenic
g.38933035C>A
g.38442395C>A
-
-
RYR1_000265
-
PubMed: Zhou 2006
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MMEO
Family 3
PubMed: Zhou 2006
-
M
-
-
-
-
-
-
-
1
Jorge Oliveira
+/.
3
c.212C>A
r.212c>a
p.Ser71Tyr
Parent #1
-
pathogenic
g.38933035C>A
g.38442395C>A
-
-
RYR1_000265
-
PubMed: Zhou 2007
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
CCD
case 17
PubMed: Zhou 2007
-
-
-
-
-
-
-
-
-
1
Jorge Oliveira
-/.
-
c.216G>T
r.(?)
p.(Leu72=)
Unknown
-
benign
g.38933039G>T
g.38442399G>T
-
-
RYR1_000714
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.243G>A
r.(?)
p.(Leu81=)
Unknown
-
likely benign
g.38933066G>A
-
RYR1(NM_000540.2):c.243G>A (p.(=))
-
RYR1_001104
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.251C>T
r.(?)
p.(Thr84Met)
Unknown
-
pathogenic
g.38933074C>T
g.38442434C>T
-
-
RYR1_000610
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-IT
-
-
MHS1
-
-
-
-
-
Japan
-
-
-
-
-
1
Toshimichi Yasuda
?/.
-
c.251C>T
r.(?)
p.(Thr84Met)
Unknown
-
VUS
g.38933074C>T
g.38442434C>T
RYR1(NM_000540.2):c.251C>T (p.(Thr84Met))
-
RYR1_000610
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3i
c.270+2T>C
r.spl
p.?
Parent #1
-
pathogenic (recessive)
g.38933095T>C
g.38442455T>C
-
-
RYR1_000441
Muscle RNA seq studies pending
PubMed: O'Grady 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MDC
Pat5/PatD9
PubMed: O'Grady 2016
,
PubMed: Cummings 2017
2-generation family, unaffected heterozygous carrier parents
M
-
Australia
-
>32y
-
-
-
1
Sandra Cooper
-?/.
-
c.270+10C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.38933103C>T
g.38442463C>T
RYR1(NM_000540.2):c.270+10C>T
-
RYR1_000941
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2i
c.270+27G>A
r.(=)
p.(=)
Unknown
-
benign
g.38933120G>A
g.38442480G>A
g.43624690A>G
-
RYR1_000329
-
PubMed: Robinson 2006
-
rs3745843
Germline
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.310C>T
r.(?)
p.(His104Tyr)
Unknown
-
VUS
g.38934237C>T
-
RYR1(NM_001042723.1):c.310C>T (p.(His104Tyr))
-
RYR1_001154
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.310C>T
r.(?)
p.(His104Tyr)
Unknown
-
VUS
g.38934237C>T
-
RYR1(NM_001042723.1):c.310C>T (p.(His104Tyr))
-
RYR1_001154
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.311A>G
r.(?)
p.(His104Arg)
Unknown
-
VUS
g.38934238A>G
-
-
-
RYR1_001214
-
-
-
rs770495610
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.325C>T
r.(?)
p.(Arg109Trp)
Unknown
-
pathogenic
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CNM
-
-
-
M
no
France
white
-
-
-
-
1
Osorio Abath Neto
+?/.
-
c.325C>T
r.(?)
p.(Arg109Trp)
Unknown
-
likely pathogenic
g.38934252C>T
g.38443612C>T
RYR1(NM_000540.3):c.325C>T (p.R109W)
-
RYR1_000280
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.325C>T
r.325c>u
p.Arg109Trp
Paternal (confirmed)
-
pathogenic
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
-
PubMed: Jungbluth 2005
;
PubMed: Zhou 2006
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MMEO
-
PubMed: Jungbluth 2005
;
PubMed: Zhou 2006
brother affected
F
-
United Kingdom (Great Britain)
-
>8y
-
-
-
1
Jorge Oliveira
+/.
4
c.325C>T
r.325c>u
p.Arg109Trp
Paternal (confirmed)
-
pathogenic
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
not in 200 controls; conserved residue; monoallelic expression in skeletal muscle (epigenetic allele silencing)
PubMed: Jungbluth 2005
;
PubMed: Zhou 2006
;
PubMed: Zhou 2006b
;
PubMed: Zhou 2007
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MMEO
P1-1; F2, II:2; P1; P23
PubMed: Jungbluth 2005
;
PubMed: Zhou 2006
;
PubMed: Zhou 2006b
;
PubMed: Zhou 2007
sister affected
M
-
United Kingdom (Great Britain)
-
>10y
-
-
-
1
Jorge Oliveira
+?/.
-
c.325C>T
r.(?)
p.(Arg109Trp)
Unknown
-
likely pathogenic
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
2/1001 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
-
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.325C>T
r.(?)
p.(Arg109Trp)
Parent #1
ACMG
pathogenic (recessive)
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
ACMG PM2, PM3, PP3, PP5
PubMed: Natera-de Benito 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene or gene panel
MYOP
Fam18Pat21
PubMed: Natera-de Benito 2021
patient
F
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.325C>T
r.(?)
p.(Arg109Trp)
Parent #1
ACMG
pathogenic (recessive)
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
ACMG PM2, PM3, PP3, PP5
PubMed: Natera-de Benito 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene or gene panel
MYOP
Fam19Pat22
PubMed: Natera-de Benito 2021
patient
F
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.325C>T
r.(?)
p.(Arg109Trp)
Unknown
-
pathogenic
g.38934252C>T
-
RYR1(NM_000540.3):c.325C>T (p.R109W)
-
RYR1_000280
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.325C>T
r.(?)
p.(Arg109Trp)
Parent #1
-
pathogenic (recessive)
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
-
PubMed: Westra 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
NMD
Pat56
PubMed: Westra 2019
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.325C>T
r.(?)
p.(Arg109Trp)
Parent #1
-
pathogenic (recessive)
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
-
PubMed: Westra 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
NMD
Pat58
PubMed: Westra 2019
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.328C>T
r.(?)
p.(His110Tyr)
Parent #1
-
likely pathogenic (recessive)
g.38934255C>T
g.38443615C>T
-
-
RYR1_001254
-
PubMed: Boissel 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
CONGE-060
PubMed: Boissel 2017
analysis 101 stillborn fetuses with severe prenatal anoalies
-
-
Canada
-
0d
-
-
-
1
Johan den Dunnen
?/.
-
c.329A>G
r.(?)
p.(His110Arg)
Unknown
-
VUS
g.38934256A>G
g.38443616A>G
-
-
RYR1_000715
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.418G>A
r.(?)
p.(Ala140Thr)
Unknown
-
likely benign
g.38934430G>A
g.38443790G>A
RYR1(NM_000540.2):c.418G>A (p.A140T)
-
RYR1_000614
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.418G>A
r.(?)
p.(Ala140Thr)
Parent #1
-
VUS
g.38934430G>A
g.38443790G>A
-
-
RYR1_000614
2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs142474192
Germline
-
2/2793 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
2
Mohammed Faruq
+/.
-
c.424+2T>C
r.spl?
p.?
Unknown
-
pathogenic
g.38934438T>C
g.38443798T>C
-
-
RYR1_000716
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.424+2T>C
r.spl
p.?
Parent #1
-
pathogenic (recessive)
g.38934438T>C
g.38443798T>C
-
-
RYR1_000716
variant in affected brother
PubMed: Westra 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
NMD
Pat54
PubMed: Westra 2019
family, 2 affected brothers
F
-
-
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.425-19A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.38934770A>G
-
RYR1(NM_000540.2):c.425-19A>G (p.(=))
-
RYR1_001105
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
6
c.463C>A
r.(?)
p.(Gln155Lys)
Unknown
-
pathogenic
g.38934827C>A
g.38444187C>A
-
-
RYR1_000117
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
M
-
Japan
-
>40y
-
-
-
1
Johan den Dunnen
+/.
6
c.467G>A
r.(?)
p.(Arg156Lys)
Unknown
-
pathogenic
g.38934831G>A
g.38444191G>A
-
-
RYR1_000147
-
Tegazzin 2005,
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Tegazzin 2005,
PubMed: Robinson 2006
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.467G>A
r.(?)
p.(Arg156Lys)
Unknown
-
pathogenic
g.38934831G>A
g.38444191G>A
-
-
RYR1_000147
-
PubMed: Galli 2006
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
MHS
-
PubMed: Galli 2006
-
-
-
Italy
-
-
-
-
-
1
Jorge Oliveira
+/.
6
c.479A>G
r.479a>g
p.Glu160Gly
Unknown
-
pathogenic
g.38934843A>G
g.38444203A>G
-
-
RYR1_000078
-
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MHS
-
PubMed: Robinson 2006
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.479A>G
r.(?)
p.(Glu160Gly)
Unknown
-
pathogenic
g.38934843A>G
g.38444203A>G
-
-
RYR1_000078
-
Shepherd (2004)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCD
-
Shepherd (2004)
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.479A>G
r.(?)
p.(Glu160Gly)
Unknown
-
pathogenic
g.38934843A>G
g.38444203A>G
-
-
RYR1_000078
-
PubMed: Duarte 2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCD
-
PubMed: Duarte 2011
-
F
-
Portugal
-
>55y
-
-
-
1
Jorge Oliveira
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Paternal (confirmed)
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
PubMed: Monnier 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
PubMed: Monnier 2002
4-generation family with 6 affecteds
F
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.487c>u
p.Arg163Cys
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
MHS
-
PubMed: Robinson 2006
-
-
-
-
European
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Barone (1999)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Barone (1999)
-
-
-
-
European
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Fagerlund (1994),
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCD
-
Fagerlund (1994),
OMIM:var0004
-
-
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Fiege (2002)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Fiege (2002)
-
-
-
-
European
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Fletcher (1995)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Fletcher (1995)
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Monnier (2005)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Monnier (2005)
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
-?/.
6
c.487C>T
r.487c>u
p.Arg163Cys
Unknown
-
likely benign
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
PubMed: O'Brien 1995
,
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
08592342-Fam
PubMed: O'Brien 1995
,
OMIM:var0004
5-generation family, 5 affecteds, 2 carriers / 3 non-carriers
-
-
Australia
-
-
-
-
-
2
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Quane (1993),
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCD
Fam2
Quane (1993),
OMIM:var0004
some family members have MHS and CCD
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Quane (1994a)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Quane (1994a)
-
-
-
-
European
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Robinson (2002)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Robinson (2002)
-
-
-
-
European
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
PubMed: Ruffert 2002
;
PubMed: Rueffert 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
PubMed: Ruffert 2002
;
PubMed: Rueffert 2002
2 affected families; 6 individuals with mutation: 5 MH positive individuals (in vitro contracture test), 1 not tested
-
-
Germany
-
-
-
-
-
6
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Sambuughin (2001)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Sambuughin (2001)
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Sambuughin (2005)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Sambuughin (2005)
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Sei (2004)
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Sei (2004)
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Paternal (confirmed)
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Tobin (2001),
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Tobin (2001),
OMIM:var0004
affected male, inherited from father
M
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
several publications
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CCD
-
several publications
-
-
-
-
-
-
-
-
-
19
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
M
-
Japan
-
>24y
-
-
-
1
Johan den Dunnen
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
PubMed: Galli 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ, DHPLC
-
-
MHS
-
PubMed: Galli 2006
-
-
-
Italy
-
-
-
-
-
1
Jorge Oliveira
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
PubMed: Gillies 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
PubMed: Gillies 2008
Family: 3 individuals with positive IVCT
-
-
Australia
-
-
-
-
-
3
Jorge Oliveira
+/.
6
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
PubMed: Gillies 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MHS
-
PubMed: Gillies 2008
Family: 6 individuals with positive IVCT
-
-
Australia
-
-
-
-
-
6
Jorge Oliveira
+/.
6
c.487C>T
r.487c>u
p.Arg163Cys
Unknown
-
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
-
PubMed: Kraeva 2011
-
-
Germline
-
-
-
-
-
DNA, RNA
PCR, RT-PCR, SEQ
-
-
MHS
-
PubMed: Kraeva 2011
-
M
-
Canada
-
-
-
-
-
1
Natalia Kraeva
+/.
6
c.487C>T
r.(?)
p.Arg163Cys
Unknown
-
NA
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
in vitro functional study shows altered ryanodine receptor function; EMHG RYR1 db (http://www.emhg.org/genetics/mutations-in-ryr1/)
European MH Group genetic testing guidelines May 2005
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.487C>T
r.(?)
p.(Arg163Cys)
Unknown
ACMG
pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
ACMG PS3, PS4, PM1, PM5, PP1_St, PP3_M
Journal: Johnston 2020
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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-
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