Global Variome shared LOVD
RYR1 (ryanodine receptor 1 (skeletal))
LOVD v.3.0 Build 27 [
Current LOVD status
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Curators:
Jorge Oliveira
and
Johan den Dunnen
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Unique variants in the RYR1 gene
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.
Reported
: The number of times this variant has been reported in the database.
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
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)
association
unclassified
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%)
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
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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924 entries on 10 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
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
Owner
-/.
2
1
c.-108T>C
r.(?)
p.(=)
-
benign
g.38924362T>C
g.38433722T>C
g.43616202C>T
-
RYR1_000039
5'UTR, VKGL data sharing initiative Nederland
PubMed: Robinson 2006
-
rs4632259
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
?/.
2
?
c.?
r.0
p.0?
-
VUS
g.?
-
-
-
RYR1_000282
-
PubMed: Zhou 2006
-
-
Germline
-
-
-
-
-
Jorge Oliveira
+/.
1
1
c.35_37delinsCG
r.35_37delinscg
p.Phe12Serfs*106
-
pathogenic
g.38924504_38924506delinsCG
g.38433864_38433866delinsCG
34del, 37C>G
-
RYR1_000323
low expression at mRNA level
PubMed: Monnier 2008
-
-
Germline
-
-
-
-
-
Jorge Oliveira
+/.
2
1
c.38T>G
r.(?)
p.(Leu13Arg)
-
pathogenic
g.38924507T>G
g.38433867T>G
-
-
RYR1_000134
VKGL data sharing initiative Nederland
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
-/.
1
1i
c.45+300T>C
r.(=)
p.(=)
-
benign
g.38924814T>C
g.38434174T>C
g.43616654C>T
-
RYR1_000330
-
PubMed: Robinson 2006
-
rs919781
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
1
-
c.46-10G>A
r.(=)
p.(=)
-
likely pathogenic
g.38931375G>A
-
RYR1(NM_000540.2):c.46-10G>A (p.(=))
-
RYR1_001103
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
1
2
c.51_53del
r.(?)
p.(Asp17del)
-
pathogenic
g.38931390_38931392del
g.38440750_38440752del
51_53delTGA
-
RYR1_000254
-
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
2
c.94C>T
r.(?)
p.(Leu32Phe)
-
VUS
g.38931433C>T
g.38440793C>T
-
-
RYR1_000422
-
-
-
-
Germline
-
-
-
-
-
Tom Winder
+/.
1
2
c.97A>G
r.(?)
p.(Lys33Glu)
-
pathogenic
g.38931436A>G
g.38440796A>G
A97G
-
RYR1_000300
Conserved residue; not in 200 normal controls
PubMed: D'Arcy 2008
-
-
De novo
-
-
-
-
-
Jorge Oliveira
+/.
6
2
c.(103T>C?), c.103T>C
r.(?)
p.(Cys35Arg), p.Cys35Arg
ACMG
NA, pathogenic
g.38931442T>C, g.?
g.38440802T>C
-
-
RYR1_000000, RYR1_000027
ACMG PS4_M, PM1, PP1_St, PP3_M,
1 more item
European MH Group genetic testing guidelines May 2005, Lynch (1997), Monnier (2005),
2 more items
-
-
CLASSIFICATION record, Germline, In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
+?/.
1
-
c.122T>C
r.(?)
p.(Phe41Ser)
ACMG
likely pathogenic (recessive)
g.38931461T>C
g.38440821T>C
-
-
RYR1_001079
ACMG PM2, PM3, PP3, PP5
PubMed: Natera-de Benito 2021
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., +?/.
2
2
c.130C>T
r.(?)
p.(Arg44Cys)
ACMG
likely pathogenic, pathogenic
g.38931469C>T
g.38440829C>T
-
-
RYR1_000213
ACMG PS3_M, PS4_M, PM1, PP3_M
Journal: Johnston 2020
,
PubMed: Tammaro 2003
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
2
c.131G>A
r.(?), r.131g>a
p.(Arg44His), p.Arg44His
-
pathogenic
g.38931470G>A
g.38440830G>A
-
-
RYR1_000076
-
PubMed: Galli 2006
,
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
?/.
1
-
c.143T>C
r.(?)
p.(Leu48Pro)
-
VUS
g.38931482T>C
g.38440842T>C
-
-
RYR1_000713
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/., ?/.
2
2
c.152C>A
r.(?)
p.(Thr51Asn)
ACMG
likely pathogenic, VUS
g.38931491C>A
g.38440851C>A
-
-
RYR1_000309
ACMG PM1, not in 100 controls
Journal: Johnston 2020
,
PubMed: Gillies 2008
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
-/.
1
2i
c.165+74G>C
r.(=)
p.(=)
-
benign
g.38931578G>C
g.38440938G>C
g.43623418C>G
-
RYR1_000332
-
PubMed: Robinson 2006
-
rs2304145
Germline
-
0.03
-
-
-
Johan den Dunnen
-?/.
1
-
c.166-19C>T
r.(=)
p.(=)
-
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
-
-
-
-
-
VKGL-NL_Leiden
-?/.
1
-
c.177C>T
r.(?)
p.(Pro59=)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
3
3
c.178G>A
r.(?), r.178g>a
p.(Asp60Asn), p.Asp60Asn
-
likely pathogenic, pathogenic
g.38933001G>A
g.38442361G>A
-
-
RYR1_000077
-
PubMed: Robinson 2006
,
PubMed: Wu 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Tom Winder
,
Jorge Oliveira
+/.
1
3
c.190T>C
r.190u>c
p.Cys64Arg
-
pathogenic
g.38933013T>C
g.38442373T>C
-
-
RYR1_000395
not in 200 control chromosomes
PubMed: Kraeva 2011
-
-
Germline
-
0/200
BtsCI+
-
-
Natalia Kraeva
+/.
4
3
c.212C>A
r.(?), r.212c>a
p.(Ser71Tyr), p.Ser71Tyr
-
pathogenic
g.38933035C>A
g.38442395C>A
-
-
RYR1_000265
-
PubMed: Zhou 2006
,
PubMed: Zhou 2007
,
PubMed: Galli 2006
-
-
Germline
-
-
-
-
-
Jorge Oliveira
-/.
1
-
c.216G>T
r.(?)
p.(Leu72=)
-
benign
g.38933039G>T
g.38442399G>T
-
-
RYR1_000714
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.243G>A
r.(?)
p.(Leu81=)
-
likely benign
g.38933066G>A
-
RYR1(NM_000540.2):c.243G>A (p.(=))
-
RYR1_001104
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/., ?/.
2
3
c.251C>T
r.(?)
p.(Thr84Met)
-
pathogenic, 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, Germline
-
-
-
-
-
VKGL-NL_Leiden
,
Toshimichi Yasuda
+/.
1
3i
c.270+2T>C
r.spl
p.?
-
pathogenic (recessive)
g.38933095T>C
g.38442455T>C
-
-
RYR1_000441
Muscle RNA seq studies pending
PubMed: O'Grady 2016
-
-
Germline
yes
-
-
-
-
Sandra Cooper
-?/.
1
-
c.270+10C>T
r.(=)
p.(=)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
2i
c.270+27G>A
r.(=)
p.(=)
-
benign
g.38933120G>A
g.38442480G>A
g.43624690A>G
-
RYR1_000329
-
PubMed: Robinson 2006
-
rs3745843
Germline
-
-
-
-
-
Johan den Dunnen
+/., +?/.
7
4
c.325C>T
r.(?), r.325c>u
p.(Arg109Trp), p.Arg109Trp
ACMG
likely pathogenic, pathogenic, pathogenic (recessive)
g.38934252C>T
g.38443612C>T
-
-
RYR1_000280
ACMG PM2, PM3, PP3, PP5, combination of variants not reported, VKGL data sharing initiative Nederland,
1 more item
PubMed: Jungbluth 2005
;
PubMed: Zhou 2006
,
PubMed: Natera-de Benito 2021
,
PubMed: Topf 2020
,
1 more item
-
-
CLASSIFICATION record, Germline
-
2/1001 cases
-
-
-
Johan den Dunnen
,
Jorge Oliveira
,
Osorio Abath Neto
,
VKGL-NL_Nijmegen
?/.
1
-
c.329A>G
r.(?)
p.(His110Arg)
-
VUS
g.38934256A>G
g.38443616A>G
-
-
RYR1_000715
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/., ?/.
2
-
c.418G>A
r.(?)
p.(Ala140Thr)
-
likely benign, VUS
g.38934430G>A
g.38443790G>A
RYR1(NM_000540.2):c.418G>A (p.A140T)
-
RYR1_000614
2 heterozygous, no homozygous;
Clinindb (India)
, VKGL data sharing initiative Nederland
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs142474192
CLASSIFICATION record, Germline
-
2/2793 individuals
-
-
-
VKGL-NL_Rotterdam
,
Mohammed Faruq
+/.
1
-
c.424+2T>C
r.spl?
p.?
-
pathogenic
g.38934438T>C
g.38443798T>C
-
-
RYR1_000716
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.425-19A>G
r.(=)
p.(=)
-
likely benign
g.38934770A>G
-
RYR1(NM_000540.2):c.425-19A>G (p.(=))
-
RYR1_001105
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
1
6
c.463C>A
r.(?)
p.(Gln155Lys)
-
pathogenic
g.38934827C>A
g.38444187C>A
-
-
RYR1_000117
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
6
c.467G>A
r.(?)
p.(Arg156Lys)
-
pathogenic
g.38934831G>A
g.38444191G>A
-
-
RYR1_000147
-
Tegazzin 2005,
PubMed: Robinson 2006
,
PubMed: Galli 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
+/.
3
6
c.479A>G
r.(?), r.479a>g
p.(Glu160Gly), p.Glu160Gly
-
pathogenic
g.38934843A>G
g.38444203A>G
-
-
RYR1_000078
-
Shepherd (2004),
PubMed: Duarte 2011
,
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
+/., +?/., -?/.
25
6
c.487C>T
r.(?), r.487c>u
p.(Arg163Cys), p.Arg163Cys
ACMG
likely benign, likely pathogenic, NA, pathogenic
g.38934851C>T
g.38444211C>T
-
-
RYR1_000026
ACMG PS3, PS4, PM1, PM5, PP1_St, PP3_M,
1 more item
Barone (1999), European MH Group genetic testing guidelines May 2005, Fagerlund (1994),
OMIM:var0004
,
21 more items
-
-
CLASSIFICATION record, Germline, In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
,
Natalia Kraeva
+/., +?/.
4
6
c.488G>T
r.(?), r.488g>u
p.(Arg163Leu), p.Arg163Leu
ACMG
likely pathogenic, NA, pathogenic
g.38934852G>T
g.38444212G>T
-
-
RYR1_000079
ACMG PS3_M, PS4_M, PM1, PP3_M,
1 more item
Monnier (2005),
Journal: Johnston 2020
,
PubMed: Robinson 2006
-
-
CLASSIFICATION record, Germline, In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
+/.
1
6
c.493G>A
r.(?)
p.(Gly165Arg)
-
pathogenic
g.38934857G>A
g.38444217G>A
-
-
RYR1_000184
-
PubMed: Monnier 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
6
c.496G>A
r.(?)
p.(Asp166Asn)
-
pathogenic
g.38934860G>A
g.38444220G>A
-
-
RYR1_000185
-
Monnier (2005),
PubMed: Ruffert 2002
;
PubMed: Rueffert 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
6
c.497A>G
r.(?)
p.(Asp166Gly)
-
pathogenic
g.38934861A>G
g.38444221A>G
-
-
RYR1_000118
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
5
6
c.529C>T
r.(?), r.529c>u
p.(Arg177Cys), p.Arg177Cys
-
pathogenic
g.38934893C>T
g.38444253C>T
-
-
RYR1_000080
not in 100 controls
Monnier (2005), several publications,
PubMed: Gillies 2008
,
PubMed: Galli 2006
,
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
+/.
1
6
c.533A>T
r.(?)
p.(Tyr178Phe)
-
pathogenic
g.38934897A>T
g.38444257A>T
-
-
RYR1_000186
-
PubMed: Monnier 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/., -?/.
4
7
c.573C>T
r.(?)
p.(=), p.(Asp191=)
-
benign, likely benign
g.38935259C>T
g.38444619C>T
473C>T (Asp191), RYR1(NM_000540.2):c.573C>T (p.D191=, p.(Asp191=))
-
RYR1_000049
VKGL data sharing initiative Nederland
PubMed: Robinson 2006
-
rs892054
CLASSIFICATION record, Germline
-
0/100
-
-
-
Johan den Dunnen
,
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
-/.
7
7
c.594A>G
r.(=), r.(?)
p.(=), p.(Leu198=)
-
benign
g.38935280A>G
g.38444640A>G
594G>A (Leu198), RYR1(NM_000540.2):c.594A>G (p.L198=)
-
RYR1_000050
VKGL data sharing initiative Nederland
from website {DBsub-Emory},
PubMed: Jeong 2008
,
PubMed: Robinson 2006
-
rs2229139
CLASSIFICATION record, Germline, Unknown
-
30/100
-
-
-
Johan den Dunnen
,
Madhuri Hegde
,
Jorge Oliveira
,
Andreas Laner
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
1
-
c.620G>T
r.(?)
p.(Arg207Leu)
-
VUS
g.38935306G>T
-
RYR1(NM_000540.2):c.620G>T (p.R207L)
-
RYR1_001044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/.
1
7
c.625G>A
r.625g>a
p.Glu209Lys
-
VUS
g.38935311G>A
g.38444671G>A
-
-
RYR1_000407
-
PubMed: Kraeva 2011
-
-
Germline
-
-
-
-
-
Natalia Kraeva
-/.
4
-
c.631+39dup
r.(=)
p.(=)
-
benign
g.38935356dup
g.38444716dup
RYR1(NM_000540.2):c.631+39dupC
-
RYR1_000573
VKGL data sharing initiative Nederland
-
-
rs35018208
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
VKGL-NL_Utrecht
-/.
2
-
c.631+49C>T
r.(=)
p.(=)
-
benign
g.38935366C>T
g.38444726C>T
-
-
RYR1_000978
248 heterozygous;
Clinindb (India)
, 6 homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs57132842
Germline
-
248/2795 individuals, 6/2795 individuals
-
-
-
Mohammed Faruq
+?/., ?/.
3
-
c.641C>T
r.(?)
p.(Thr214Met)
ACMG
VUS
g.38937121C>T
g.38446481C>T
RYR1(NM_000540.2):c.641C>T (p.(Thr214Met), p.T214M)
-
RYR1_000855
ACMG PM1, PM2, PM3, VKGL data sharing initiative Nederland
PubMed: Natera-de Benito 2021
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Leiden
,
VKGL-NL_Utrecht
+/.
1
8
c.644G>A
r.(?)
p.(Gly215Glu)
-
pathogenic
g.38937124G>A
g.38446484G>A
-
-
RYR1_000029
-
PubMed: Romero 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
8
c.652G>A
r.(?)
p.(Val218Ile)
-
pathogenic
g.38937132G>A
g.38446492G>A
-
-
RYR1_000225
-
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., +?/.
2
8
c.677T>A
r.(?)
p.(Met226Lys)
-
likely pathogenic, pathogenic
g.38937157T>A
g.38446517T>A
-
-
RYR1_000138
not in 100 controls
Levano 2005,
PubMed: Robinson 2006
,
PubMed: Gillies 2008
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
+/.
1
8
c.680A>T
r.(?)
p.(Asp227Val)
-
pathogenic
g.38937160A>T
g.38446520A>T
-
-
RYR1_000187
-
PubMed: Monnier 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., +?/.
2
-
c.718C>T
r.(?)
p.(Gln240*), p.(Gln240Ter)
-
likely pathogenic, pathogenic
g.38937198C>T
g.38446558C>T
-
-
RYR1_000717
combination of variants not reported, VKGL data sharing initiative Nederland
PubMed: Topf 2020
-
-
CLASSIFICATION record, Germline
-
1/1001 cases
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
?/.
1
-
c.722G>A
r.(?)
p.(Arg241His)
-
VUS
g.38937202G>A
g.38446562G>A
RYR1(NM_000540.2):c.722G>A (p.(Arg241His))
-
RYR1_000856
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
1
8
c.725G>A
r.(?)
p.(Arg242Lys)
-
pathogenic
g.38937205G>A
g.38446565G>A
-
-
RYR1_000607
-
-
-
-
Germline
-
-
-
-
-
Osorio Abath Neto
-/., -?/.
3
-
c.725+6G>A
r.(=)
p.(=)
-
benign, likely benign
g.38937211G>A
g.38446571G>A
RYR1(NM_000540.2):c.725+6G>A (, p.(=))
-
RYR1_000857
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
+/.
8
9
c.742G>A
r.(?), r.742g>a
p.(Gly248Arg), p.Gly248Arg
ACMG
NA, pathogenic
g.38937350G>A
g.38446710G>A
-
-
RYR1_000081
ACMG PS3_M, PS4, PM1, PP1, PP3_M,
1 more item
European MH Group genetic testing guidelines May 2005, Gillard (1992),
OMIM:var0002
, Robinson (2002),
5 more items
-
-
CLASSIFICATION record, Germline, In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
+/.
3
9
c.742G>C
r.(?)
p.(Gly248Arg)
ACMG
pathogenic
g.38937350G>C
g.38446710G>C
-
-
RYR1_000310
ACMG PS1, PS3_M, PS4_M, PM1, PP1_M, PP3_M, VKGL data sharing initiative Nederland
Journal: Johnston 2020
,
PubMed: Gillies 2008
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
,
VKGL-NL_Nijmegen
-?/.
1
-
c.744G>C
r.(?)
p.(Gly248=)
-
likely benign
g.38937352G>C
g.38446712G>C
-
-
RYR1_000719
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.766C>T
r.(?)
p.(Arg256Cys)
-
VUS
g.38937374C>T
g.38446734C>T
-
-
RYR1_000720
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
2
-
c.821G>C
r.(?)
p.(Arg274Pro)
-
VUS
g.38939015G>C
-
RYR1(NM_000540.2):c.821G>C (p.R274P)
-
RYR1_000858
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
-/.
1
10
c.873G>A
r.(?)
p.(=)
-
benign
g.38939067G>A
g.38448427G>A
Ala291
-
RYR1_000290
-
PubMed: Robinson 2006
-
rs2229140
Germline
-
0/100
-
-
-
Johan den Dunnen
-?/.
1
-
c.897G>C
r.(?)
p.(Val299=)
-
likely benign
g.38939091G>C
g.38448451G>C
RYR1(NM_000540.2):c.897G>C (p.(=))
-
RYR1_000617
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
-
c.905A>G
r.(?)
p.(Asp302Gly)
-
VUS
g.38939099A>G
-
-
-
RYR1_001045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.906C>T
r.(?)
p.(Asp302=)
-
likely benign
g.38939100C>T
g.38448460C>T
-
-
RYR1_000721
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
10
c.947G>T
r.(?)
p.(Arg316Leu)
-
pathogenic
g.38939141G>T
g.38448501G>T
-
-
RYR1_000119
-
PubMed: Ibarra 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.957+5_957+29del
r.spl?
p.?
-
VUS
g.38939156_38939180del
g.38448516_38448540del
RYR1(NM_000540.2):c.957+2_957+26del (p.?)
-
RYR1_000859
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/., +?/.
2
11
c.982C>T
r.(?)
p.(Arg328Trp)
ACMG
likely pathogenic, pathogenic
g.38939313C>T
g.38448673C>T
C928T
-
RYR1_000177
ACMG PS3_M, PS4_S, PM1, PP1
Journal: Johnston 2020
,
PubMed: Loke 2003
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.1007_1008del
r.(?)
p.(Pro336ArgfsTer168)
-
pathogenic
g.38939338_38939339del
g.38448698_38448699del
-
-
RYR1_000861
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
1
11
c.1014C>A
r.(?)
p.(=)
-
benign
g.38939345C>A
g.38448705C>A
Ile338
-
RYR1_000004
-
PubMed: Robinson 2006
-
rs8101510
Germline
-
0/100
-
-
-
Johan den Dunnen
+/.
23
11
c.(1021G>A?), c.1021G>A
r.(?), r.1021g>a
p.(Gly341Arg), p.Gly341Arg
ACMG
NA, pathogenic
g.38939352G>A, g.?
g.38448712G>A
-
-
RYR1_000087
ACMG PS3_M, PS4, PM1, PP1_St, PP3_M, VKGL data sharing initiative Nederland,
1 more item
Adeokun (1997),
OMIM:var0006
, Alestrom (1995),
OMIM:var0006
, Barone (1999), Fiege (2002),
13 more items
-
rs28933997
CLASSIFICATION record, Germline, In vitro (cloned), Unknown
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
,
Henry Rosenberg MD
,
VKGL-NL_Nijmegen
+/.
3
11
c.1021G>C
r.(?)
p.(Gly341Arg)
ACMG
pathogenic
g.38939352G>C
g.38448712G>C
-
-
RYR1_000189
ACMG PS1, PS3_M, PS4_M, PM1, PP1_St, PP3_M
Ibarra Moreno 2005,
PubMed: Robinson 2006
,
PubMed: Ibarra 2006
, Monnier (2005),
Journal: Johnston 2020
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1024G>A
r.(?)
p.(Glu342Lys)
-
VUS
g.38939355G>A
g.38448715G>A
-
-
RYR1_000724
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
-
c.1024G>T
r.(?)
p.(Glu342Ter)
-
pathogenic
g.38939355G>T
g.38448715G>T
-
-
RYR1_000723
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
7
11
c.1077T>C
r.(=), r.(?)
p.(=), p.(Ala359=)
-
benign
g.38939408T>C
g.38448768T>C
Ala359, RYR1(NM_000540.2):c.1077T>C (p.A359=)
-
RYR1_000038
VKGL data sharing initiative Nederland
from website {DBsub-Emory},
PubMed: Jeong 2008
,
PubMed: Robinson 2006
-
rs10406027
CLASSIFICATION record, Germline, Unknown
-
15/100
-
-
-
Johan den Dunnen
,
Madhuri Hegde
,
Jorge Oliveira
,
Andreas Laner
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/.
1
11
c.1100G>A
r.(?)
p.(Arg367Gln)
-
pathogenic
g.38939431G>A
g.38448791G>A
-
-
RYR1_000139
-
PubMed: Galli 2006
-
-
Germline
-
-
-
-
-
Jorge Oliveira
+/.
1
11
c.1100G>T
r.(?)
p.(Arg367Leu)
-
pathogenic
g.38939431G>T
g.38448791G>T
-
-
RYR1_000312
-
Levano 2005,
PubMed: Robinson 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
11
c.1116G>A
r.(?)
p.(=)
-
benign
g.38939447G>A
g.38448807G>A
-
-
RYR1_000305
-
PubMed: Jeong 2008
-
-
Germline
-
-
-
-
-
Jorge Oliveira
?/.
1
-
c.1122+5G>A
r.spl?
p.?
-
VUS
g.38939458G>A
g.38448818G>A
-
-
RYR1_000725
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
1
11i
c.1122+44C>T
r.(=)
p.(=)
-
benign
g.38939497C>T
g.38448857C>T
g.43631337C>T
-
RYR1_000334
-
-
-
rs8101724
Germline
-
-
-
-
-
Johan den Dunnen
-/.
2
11i
c.1122+52T>C
r.(=)
p.(=)
-
benign
g.38939505T>C
g.38448865T>C
g.43631345C>T
-
RYR1_000333
-
PubMed: Robinson 2006
-
rs4476278
Germline
-
-
-
-
-
Johan den Dunnen
,
Andreas Laner
-/.
1
11i
c.1122+95T>C
r.(=)
p.(=)
-
benign
g.38939548T>C
g.38448908T>C
g.43631388C>T
-
RYR1_000335
-
PubMed: Robinson 2006
-
rs8102524
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
11i
c.1123-11C>T
r.(=)
p.(=)
-
benign
g.38942393C>T
g.38451753C>T
g.43634233C>T
-
RYR1_000331
-
PubMed: Robinson 2006
-
rs3745845
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1163C>T
r.(?)
p.(Ser388Leu)
-
VUS
g.38942444C>T
-
RYR1(NM_000540.2):c.1163C>T (p.S388L)
-
RYR1_001106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/.
1
-
c.1171C>T
r.(?)
p.(Arg391Cys)
-
VUS
g.38942452C>T
g.38451812C>T
-
-
RYR1_000726
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
2
-
c.1196C>T
r.(?)
p.(Ala399Val)
-
VUS
g.38942477C>T
g.38451837C>T
RYR1(NM_000540.2):c.1196C>T (p.A399V)
-
RYR1_000618
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
?/.
1
12
c.1198G>A
r.(?)
p.(Ala400Thr)
-
VUS
g.38942479G>A
g.38451839G>A
-
-
RYR1_001062
-
PubMed: Ganapathy 2019
-
rs777016690
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
12
c.1201C>G
r.1201c>g
p.Arg401Gly
-
pathogenic
g.38942482C>G
g.38451842C>G
-
-
RYR1_000088
-
PubMed: Robinson 2006
; EHMG RYR1 db
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
10
12
c.1201C>T
r.(?), r.1201c>u
p.(Arg401Cys), p.Arg401Cys
ACMG
pathogenic
g.38942482C>T
g.38451842C>T
RYR1(NM_000540.2):c.1201C>T (p.R401C)
-
RYR1_000112
ACMG PS3_M, PS4_M, PM1, PM5, PP1_M, PP3_M, not detected in 200 normal individuals,
1 more item
Davis (2002), Galli (2002), several publications,
Journal: Johnston 2020
,
PubMed: Gillies 2008
,
3 more items
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
Jorge Oliveira
,
Osorio Abath Neto
,
VKGL-NL_Utrecht
+/.
3
12
c.1202G>A
r.(?)
p.(Arg401His)
-
pathogenic
g.38942483G>A
g.38451843G>A
-
-
RYR1_000190
-
Monnier (2005), several publications,
PubMed: Ruffert 2002
;
PubMed: Rueffert 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
12
c.1205T>C
r.1205u>c
p.Met402Thr
-
pathogenic
g.38942486T>C
g.38451846T>C
-
-
RYR1_000284
not in 200 controls; monoallelic expression in skeletal muscle,
1 more item
PubMed: Zhou 2006b
,
PubMed: Zhou 2007
-
-
Germline
-
-
-
-
-
Jorge Oliveira
+/.
2
12
c.1209C>G
r.(?)
p.(Ile403Met), p.Ile403Met
-
NA, pathogenic
g.38942490C>G
g.38451850C>G
-
-
RYR1_000169
in vitro functional study shows altered ryanodine receptor function
European MH Group genetic testing guidelines May 2005; EHMG RYR1 db, Quane (1993),
OMIM:var0005
-
-
Germline, In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
-/.
1
12
c.1218C>T
r.(?)
p.(=)
-
benign
g.38942499C>T
g.38451859C>T
Thr406
-
RYR1_000005
-
PubMed: Robinson 2006
-
rs3745846
Germline
-
0/100
-
-
-
Johan den Dunnen
-/.
1
-
c.1245-29C>T
r.(=)
p.(=)
-
benign
g.38943430C>T
g.38452790C>T
-
-
RYR1_000555
-
-
-
rs35839245
Germline
-
frequency up to 0,44%
-
-
-
Andreas Laner
+/.
1
13
c.1280C>T
r.(?)
p.(Ser427Leu)
-
pathogenic
g.38943494C>T
g.38452854C>T
-
-
RYR1_000252
-
PubMed: Wu 2006
-
-
Germline
-
-
-
-
-
Jorge Oliveira
+/.
1
91
c.1280_1281dup
r.1280_1281dup
p.Ala4268Argfs*74
-
pathogenic
g.38943494_38943495dup
g.38452854_38452855dup
1281_1282insCG
-
RYR1_000325
low expression at mRNA level
PubMed: Monnier 2008
-
-
Germline
-
-
-
-
-
Jorge Oliveira
+?/.
1
-
c.1310T>C
r.(?)
p.(Ile437Thr)
-
likely pathogenic
g.38943524T>C
g.38452884T>C
-
-
RYR1_001009
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
1/1001 cases
-
-
-
Johan den Dunnen
+/.
1
13
c.1342A>T
r.(?)
p.(Ile448Phe)
-
pathogenic
g.38943556A>T
g.38452916A>T
-
-
RYR1_000580
-
-
-
-
Germline
-
-
-
-
-
Osorio Abath Neto
?/.
1
-
c.1389G>A
r.(?)
p.(Lys463=)
-
VUS
g.38943603G>A
g.38452963G>A
RYR1(NM_000540.2):c.1389G>A (p.(Lys463=))
-
RYR1_000619
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
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