Global Variome shared LOVD
DES (desmin)
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Curators:
Andreas Brodehl
and
Johan den Dunnen
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Unique variants in the DES gene
This database is one of the gene variant databases from the
"Leiden Muscular Dystrophy pages" (LMDp)
The variants shown are described using the NM_001927.3 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)
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%)
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.
309 entries on 4 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
-/.
1
-
c.-58C>T
r.(?)
p.(=)
-
benign
g.220283127C>T
g.219418405C>T
DES(NM_001927.3):c.-58C>T
-
DES_000125
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/.
1
-
c.-31T>A
r.(?)
p.(=)
-
likely benign
g.220283154T>A
g.219418432T>A
-
-
DES_000233
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/., -?/.
3
-
c.-30_-18dup
r.(?)
p.(=)
-
benign, likely benign
g.220283155_220283167dup
g.219418433_219418445dup
DES(NM_001927.4):c.-30_-18dupGCGCCCGCCAGCC
-
DES_000234
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
1
-
c.-18C>T
r.(?)
p.(=)
-
VUS
g.220283167C>T
g.219418445C>T
DES(NM_001927.3):c.-18C>T
-
DES_000128
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.-11G>C
r.(?)
p.(=)
-
likely benign
g.220283174G>C
g.219418452G>C
-
-
DES_000236
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
5' UTR
c.-7C>G
r.(?)
p.(=)
-
VUS
g.220283178C>G
g.219418456C>G
-
-
DES_000204
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
?/.
1
6
c.?
r.?
p.?
-
VUS
g.?
-
D339Y
-
DES_000000
variant not possible
PubMed: Strach 2008
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
3
1
c.5G>T
r.(?), r.5g>u
p.(Ser2Ile), p.Ser2Ile
-
pathogenic, pathogenic (dominant)
g.220283189G>T
g.219418467G>T
-
-
DES_000019
-
PubMed: Selcen 2004
,
PubMed: Wahbi 2012
,
Journal: Wahbi 2012
-
rs58999456
Germline, Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
,
Pieter Klap
-/.
1
1
c.9G>A
r.(?)
p.(=)
-
benign
g.220283193G>A
g.219418471G>A
Gln3Gln
-
DES_000075
not in 364 control chromosomes
PubMed: Zimmerman 2010
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
1
c.17C>G
r.(?)
p.(Ser6Trp)
-
pathogenic (dominant)
g.220283201C>G
g.219418479C>G
-
-
DES_000120
-
PubMed: Weihl 2015
,
Journal: Weihl 2015
-
-
Germline
-
-
-
-
-
Pieter Klap
-/., -?/., ?/.
3
1
c.18G>A
r.(?)
p.(=), p.(Ser6=)
-
benign, likely benign, VUS
g.220283202G>A
g.219418480G>A
DES(NM_001927.3):c.18G>A (p.S6=), DES(NM_001927.4):c.18G>A (p.S6=)
-
DES_000129
VKGL data sharing initiative Nederland
PubMed: Nallamilli 2018
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Madhuri Hegde
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
?/.
1
1
c.25C>G
r.(?)
p.(Gln9Glu)
-
VUS
g.220283209C>G
g.219418487C>G
-
-
DES_000205
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
+/., +?/.
2
1
c.35C>T
r.(?)
p.(Ser12Phe)
-
likely pathogenic, pathogenic
g.220283219C>T
g.219418497C>T
S12F
-
DES_000080
not in 200 control chromosomes
PubMed: Hong 2010
,
PubMed: Nallamilli 2018
-
-
Germline, Germline/De novo (untested)
yes
-
-
-
-
Johan den Dunnen
,
Madhuri Hegde
+/.
31
1
c.38C>T
r.(?)
p.(Ser13Phe)
-
pathogenic, pathogenic (dominant)
g.220283222C>T
g.219418500C>T
DES(NM_001927.4):c.38C>T (p.S13F)
-
DES_000017
Absent in 300 ethnically matched control alleles, no second variant,
1 more item
PubMed: Bergman 2007
,
PubMed: McCormick 2015
,
Journal: McCormick 2015
,
PubMed: Nallamilli 2018
,
5 more items
-
rs62636495
CLASSIFICATION record, Germline
yes
1/590 cases
-
-
-
Johan den Dunnen
,
Madhuri Hegde
,
Pieter Klap
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
1
-
c.46C>G
r.(?)
p.(Arg16Gly)
-
VUS
g.220283230C>G
-
-
-
DES_000356
-
-
-
-
Unknown
-
-
-
-
-
MobiDetails
+/.
2
1
c.46C>T
r.(?)
p.(Arg16Cys)
-
pathogenic (recessive)
g.220283230C>T
g.219418508C>T
c.46C>T
-
DES_000018
-
PubMed: Arbustini 2006
-
rs62636495
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
1
-
c.49_54dup
r.(?)
p.(Thr17_Phe18dup)
-
likely pathogenic
g.220283233_220283238dup
g.219418511_219418516dup
-
-
DES_000307
-
PubMed: Gonzalez-Quereda 2020
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.51C>T
r.(?)
p.(Thr17=)
-
likely benign
g.220283235C>T
g.219418513C>T
-
-
DES_000267
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.54C>T
r.(?)
p.(Phe18=)
-
likely benign
g.220283238C>T
-
DES(NM_001927.3):c.54C>T (p.F18=)
-
DES_000284
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
?/.
2
-
c.55G>A
r.(?)
p.(Gly19Ser)
-
VUS
g.220283239G>A
-
DES(NM_001927.4):c.55G>A (p.(Gly19Ser), p.G19S)
-
DES_000332
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Groningen
-/.
1
-
c.63C>T
r.(?)
p.(=)
-
benign
g.220283247C>T
-
DES(NM_001927.4):c.63C>T (p.A21=)
-
DES_000333
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
-
c.65C>A
r.(?)
p.(Pro22Gln)
-
VUS
g.220283249C>A
-
DES(NM_001927.4):c.65C>A (p.P22Q)
-
DES_000318
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
2
-
c.66G>A
r.(?)
p.(Pro22=)
-
likely benign
g.220283250G>A
g.219418528G>A
DES(NM_001927.3):c.66G>A (p.P22=)
-
DES_000130
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
-?/.
1
-
c.69C>T
r.(?)
p.(Gly23=)
-
likely benign
g.220283253C>T
g.219418531C>T
-
-
DES_000237
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.72C>A
r.(?)
p.(Phe24Leu)
-
VUS
g.220283256C>A
g.219418534C>A
-
-
DES_000290
-
PubMed: Walsh 2017
-
-
Germline
-
1/93 cases
-
-
-
Johan den Dunnen
-/.
5
1
c.75A>G
r.(?)
p.(=), p.(Pro25=)
-
benign
g.220283259A>G
g.219418537A>G
DES(NM_001927.3):c.75A>G (p.P25=), DES(NM_001927.4):c.75A>G (p.P25=)
-
DES_000062
from website {DBsub-Emory}, VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline/De novo (untested)
-
-
-
-
-
Madhuri Hegde
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
5
-
c.79G>A
r.(?)
p.(Gly27Ser)
-
VUS
g.220283263G>A
g.219418541G>A
DES(NM_001927.3):c.79G>A (p.G27S), DES(NM_001927.4):c.79G>A (p.G27S)
-
DES_000132
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+?/.
1
-
c.83C>T
r.(?)
p.(Ser28Phe)
-
likely pathogenic
g.220283267C>T
g.219418545C>T
-
-
DES_000303
ACMG PM1 PM2 PP2 PP3; no genotypes reported
PubMed: Nguyen 2021
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.91A>G
r.(?)
p.(Ser31Gly)
-
VUS
g.220283275A>G
-
-
-
DES_000309
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
1
c.91A>T
r.(?)
p.(Ser31Cys)
-
VUS
g.220283275A>T
g.219418553A>T
-
-
DES_000206
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
-/.
5
1
c.93T>C
r.(?)
p.(=), p.(Ser31=)
-
benign
g.220283277T>C
g.219418555T>C
DES(NM_001927.3):c.93T>C (p.S31=), DES(NM_001927.4):c.93T>C (p.S31=)
-
DES_000063
from website {DBsub-Emory}, VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline/De novo (untested)
-
-
-
-
-
Madhuri Hegde
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
-?/., ?/.
2
-
c.93T>G
r.(?)
p.(Ser31Arg)
-
likely benign, VUS
g.220283277T>G
-
DES(NM_001927.4):c.93T>G (p.S31R)
-
DES_000285
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
1
1
c.109C>T
r.(?)
p.(Arg37Trp)
-
VUS
g.220283293C>T
g.219418571C>T
-
-
DES_000207
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
-/., -?/.
3
-
c.114G>A
r.(?)
p.(Ala38=)
-
benign, likely benign
g.220283298G>A
g.219418576G>A
DES(NM_001927.3):c.114G>A (p.A38=), DES(NM_001927.4):c.114G>A (p.A38=)
-
DES_000238
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
?/.
1
-
c.121G>A
r.(?)
p.(Gly41Ser)
-
VUS
g.220283305G>A
g.219418583G>A
-
-
DES_000239
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.127A>G
r.(?)
p.(Lys43Glu)
-
VUS
g.220283311A>G
g.219418589A>G
-
-
DES_000291
VUS favour pathogenic
PubMed: Walsh 2017
-
-
Germline
-
1/590 cases
-
-
-
Johan den Dunnen
+/.
1
1
c.137C>A
r.137c>a
p.Ser46Tyr
-
pathogenic
g.220283321C>A
g.219418599C>A
c.137C>A
-
DES_000014
-
PubMed: Selcen 2004
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., ?/.
3
1
c.137C>T
r.(?), r.137c>t
p.(Ser46Phe), p.Ser46Phe
-
pathogenic, VUS
g.220283321C>T
g.219418599C>T
c.137C>T
-
DES_000015
VKGL data sharing initiative Nederland
PubMed: Goldfarb 2004
AG Engel pers.comm.,
PubMed: Selcen 2004
-
rs60794845
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
+/.
1
-
c.155G>T
r.(?)
p.(Arg52Leu)
-
pathogenic (dominant)
g.220283339G>T
g.219418617G>T
-
-
DES_000280
-
PubMed: Yu 2017
-
-
De novo
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.163C>T
r.(?)
p.(Gln55*)
-
VUS
g.220283347C>T
-
DES(NM_001927.4):c.163C>T (p.Q55*)
-
DES_000298
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.165G>A
r.(?)
p.(Gln55=)
-
likely benign
g.220283349G>A
g.219418627G>A
DES(NM_001927.3):c.165G>A (p.Q55=)
-
DES_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.166G>C
r.(?)
p.(Val56Leu)
-
VUS
g.220283350G>C
-
DES(NM_001927.4):c.166G>C (p.V56L)
-
DES_000339
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
1
1
c.167T>A
r.(?)
p.(Val56Glu)
-
VUS
g.220283351T>A
g.219418629T>A
-
-
DES_000208
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
-?/.
1
-
c.168G>T
r.(?)
p.(Val56=)
-
likely benign
g.220283352G>T
g.219418630G>T
DES(NM_001927.3):c.168G>T (p.V56=)
-
DES_000135
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/., ?/.
7
1
c.170C>T
r.(?)
p.(Ser57Leu)
-
likely benign, VUS
g.220283354C>T
g.219418632C>T
DES(NM_001927.3):c.170C>T (p.S57L), DES(NM_001927.4):c.170C>T (p.S57L)
-
DES_000136
no second variant, VKGL data sharing initiative Nederland
PubMed: Nallamilli 2018
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Madhuri Hegde
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+?/.
2
-
c.171dup
r.(?)
p.(Arg58AlafsTer60)
ACMG
likely pathogenic (recessive)
g.220283355dup
g.219418633dup
171dupG, c.171dupG
-
DES_000326
ACMG PVS1 PM2
PubMed: Cavdarli 2023
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
1
c.184G>A
r.(?)
p.(Gly62Arg)
-
VUS
g.220283368G>A
g.219418646G>A
-
-
DES_000209
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
+?/., ?/.
3
1
c.193G>A
r.(?)
p.(Gly65Ser)
-
likely pathogenic, VUS
g.220283377G>A
g.219418655G>A
-
-
DES_000210
ACMG PS4-M PM1 PM2 PP2 BP4; no genotypes reported, VUS favour pathogenic
PubMed: Nallamilli 2018
,
PubMed: Nguyen 2021
,
PubMed: Walsh 2017
-
-
Germline
-
1/590 cases
-
-
-
Johan den Dunnen
,
Madhuri Hegde
-?/.
2
-
c.195C>T
r.(?)
p.(Gly65=)
-
likely benign
g.220283379C>T
g.219418657C>T
DES(NM_001927.3):c.195C>T (p.G65=), DES(NM_001927.4):c.195C>T (p.G65=)
-
DES_000137
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
?/.
1
-
c.199G>C
r.(?)
p.(Gly67Arg)
-
VUS
g.220283383G>C
-
-
-
DES_000341
-
-
-
-
CLASSIFICATION record
-
-
-
-
-
MobiDetails
+?/.
1
-
c.206T>C
r.(?)
p.(Leu69Pro)
-
likely pathogenic
g.220283390T>C
g.219418668T>C
-
-
DES_000336
-
PubMed: Miszalski-Jamka 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
-?/., ?/.
4
1
c.216C>A
r.(?)
p.(Ser72Arg)
-
likely benign, VUS
g.220283400C>A
g.219418678C>A
DES(NM_001927.4):c.216C>A (p.S72R)
-
DES_000122
no second variant in DES, VKGL data sharing initiative Nederland
PubMed: Nallamilli 2018
,
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
-
-
CLASSIFICATION record, Germline
?
-
-
-
-
Madhuri Hegde
,
Ellika Sahlin
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
6
1
c.218G>A
r.(?)
p.(Arg73Gln)
-
VUS
g.220283402G>A
g.219418680G>A
-
-
DES_000211
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
?/.
1
-
c.221T>C
r.(?)
p.(Leu74Pro)
-
VUS
g.220283405T>C
g.219418683T>C
DES(NM_001927.3):c.221T>C (p.L74P)
-
DES_000138
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/., -?/.
2
-
c.225G>A
r.(?)
p.(Gly75=)
-
benign, likely benign
g.220283409G>A
g.219418687G>A
DES(NM_001927.4):c.225G>A (p.G75=)
-
DES_000139
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/.
1
-
c.226del
r.(?)
p.(Thr76Profs*22)
-
pathogenic (recessive)
g.220283410del
g.219418688del
226delA
-
DES_000198
-
PubMed: Henderson 2013
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.228C>T
r.(?)
p.(Thr76=)
-
likely benign
g.220283412C>T
g.219418690C>T
-
-
DES_000268
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
1
c.229A>G
r.(?)
p.(Thr77Ala)
-
VUS
g.220283413A>G
g.219418691A>G
-
-
DES_000212
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
?/.
1
1
c.243C>T
r.(?)
p.(=)
-
VUS
g.220283427C>T
g.219418705C>T
-
-
DES_000213
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
?/.
1
-
c.245_247del
r.(?)
p.(Ser82del)
-
VUS
g.220283429_220283431del
g.219418707_219418709del
DES(NM_001927.3):c.245_247delCCT (p.S82del)
-
DES_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
6
1
c.250G>A
r.(?)
p.(Gly84Ser)
-
VUS
g.220283434G>A
g.219418712G>A
DES(NM_001927.3):c.250G>A (p.G84S), DES(NM_001927.4):c.250G>A (p.G84S)
-
DES_000141
no second variant, VKGL data sharing initiative Nederland
PubMed: Nallamilli 2018
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Madhuri Hegde
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
?/.
1
-
c.260A>G
r.(?)
p.(Glu87Gly)
-
VUS
g.220283444A>G
g.219418722A>G
-
-
DES_000269
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.262C>G
r.(?)
p.(Leu88Val)
-
VUS
g.220283446C>G
g.219418724C>G
-
-
DES_000270
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.263T>C
r.(?)
p.(Leu88Pro)
-
VUS
g.220283447T>C
g.219418725T>C
-
-
DES_000271
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.264G>C
r.(?)
p.(Leu88=)
-
likely benign
g.220283448G>C
g.219418726G>C
-
-
DES_000272
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/.
1
-
c.275C>G
r.(?)
p.(Ser92*)
-
likely pathogenic
g.220283459C>G
-
DES(NM_001927.4):c.275C>G (p.S92*)
-
DES_000346
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
1
-
c.296A>T
r.(?)
p.(Gln99Leu)
-
VUS
g.220283480A>T
g.219418758A>T
DES(NM_001927.4):c.296A>T (p.Q99L)
-
DES_000142
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
-
c.305T>C
r.(?)
p.(Leu102Pro)
-
VUS
g.220283489T>C
g.219418767T>C
DES(NM_001927.4):c.305T>C (p.L102P)
-
DES_000143
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
2
-
c.311C>A
r.(?)
p.(Thr104Lys)
-
VUS
g.220283495C>A
-
DES(NM_001927.3):c.311C>A (p.T104K)
-
DES_000310
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
+/.
1
1
c.322G>A
r.(?)
p.(Glu108Lys)
-
pathogenic
g.220283506G>A
g.219418784G>A
408G>A
-
DES_000016
not on 300 control chromosomes
PubMed: Taylor 2007
-
rs62636490
Germline
-
-
-
-
-
Johan den Dunnen
+/., +?/., ?/.
3
-
c.322G>T
r.(?)
p.(Glu108*), p.(Glu108Ter)
ACMG
likely pathogenic, pathogenic (recessive)
g.220283506G>T
g.219418784G>T
-
-
DES_000199
ACMG PVS1, PM2, PM3, PP5, combination of variants not reported
PubMed: Henderson 2013
,
PubMed: Natera-de Benito 2021
,
PubMed: Topf 2020
-
-
Germline
yes
2/1001 cases
-
-
-
Johan den Dunnen
-/., -?/.
3
-
c.324G>A
r.(?)
p.(Glu108=)
-
benign, likely benign
g.220283508G>A
g.219418786G>A
DES(NM_001927.3):c.324G>A (p.E108=), DES(NM_001927.4):c.324G>A (p.E108=)
-
DES_000144
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_AMC
+?/.
1
-
c.326A>G
r.(?)
p.(Lys109Arg)
-
likely pathogenic
g.220283510A>G
g.219418788A>G
-
-
DES_000308
-
PubMed: Gonzalez-Quereda 2020
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.336_344del
r.(?)
p.(Gln113_Leu115del)
-
pathogenic
g.220283520_220283528del
g.219418798_219418806del
336_344delGCAGGAGCT
-
DES_000203
functional analysis suggests deleterious effect on DES protein
PubMed: Marakhonov 2019
-
-
Germline
yes
-
-
-
-
Andrey Marakhonov
+/.
1
1
c.338_339del
r.(?)
p.(Gln113Argfs*4)
-
pathogenic
g.220283522_220283523del
g.219418800_219418801del
338-339delAG
-
DES_000079
not in 200 control chromosomes
PubMed: Hong 2010
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
-/.
1
-
c.339G>A
r.(?)
p.(=)
-
benign
g.220283523G>A
-
DES(NM_001927.4):c.339G>A (p.Q113=)
-
DES_000347
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2
1
c.340_342del
r.(?)
p.(Glu114del), p.Glu114del
-
NA, pathogenic (dominant)
g.220283524_220283526del
g.219418802_219418804del
-
-
DES_000072
1 more item
PubMed: Vernengo 2010
-
-
Germline, In vitro (cloned)
yes
-
-
-
-
Johan den Dunnen
+/., +?/.
3
1
c.347A>G
r.(?)
p.(Asn116Ser), p.Asn116Ser
-
likely pathogenic, NA, pathogenic
g.220283531A>G
g.219418809A>G
-
-
DES_000070
1 heterozygous, no homozygous;
Clinindb (India)
,
1 more item
PubMed: Klauke 2010
,
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs267607499
De novo, Germline, In vitro (cloned)
-
1/2794 individuals
-
-
-
Johan den Dunnen
,
Andreas Brodehl
,
Mohammed Faruq
+?/.
1
-
c.353G>C
r.(?)
p.(Arg118Pro)
-
likely pathogenic
g.220283537G>C
g.219418815G>C
DES(NM_001927.3):c.353G>C (p.R118P)
-
DES_000145
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
?/.
1
-
c.356T>C
r.(?)
p.(Phe119Ser)
-
VUS
g.220283540T>C
-
DES(NM_001927.4):c.356T>C (p.F119S)
-
DES_000281
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2
1
c.359C>A
r.(?)
p.(Ala120Asp), p.Ala120Asp
-
likely pathogenic, NA
g.220283543C>A
g.219418821C>A
-
-
DES_000069
2 more items
PubMed: Brodehl 2013
-
-
Germline, In vitro (cloned)
yes
-
-
-
-
Johan den Dunnen
,
Andreas Brodehl
+?/.
1
-
c.365A>G
r.(?)
p.(Tyr122Cys)
-
likely pathogenic
g.220283549A>G
g.219418827A>G
-
-
DES_000292
-
PubMed: Walsh 2017
-
-
Germline
-
1/93 cases
-
-
-
Johan den Dunnen
-/., -?/.
5
-
c.372G>A
r.(?)
p.(Glu124=)
-
benign, likely benign
g.220283556G>A
g.219418834G>A
DES(NM_001927.3):c.372G>A (p.E124=, p.(=)), DES(NM_001927.4):c.372G>A (p.E124=)
-
DES_000146
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
1
-
c.383T>G
r.(?)
p.(Phe128Cys)
-
VUS
g.220283567T>G
g.219418845T>G
DES(NM_001927.3):c.383T>G (p.F128C)
-
DES_000147
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/.
1
-
c.399C>T
r.(?)
p.(Asn133=)
-
likely benign
g.220283583C>T
g.219418861C>T
DES(NM_001927.4):c.399C>T (p.N133=)
-
DES_000148
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
1
-
c.404C>G
r.(?)
p.(Ala135Gly)
-
VUS
g.220283588C>G
-
-
-
DES_000325
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/., ?/.
3
1
c.404C>T
r.(?)
p.(Ala135Val)
-
likely benign, VUS
g.220283588C>T
g.219418866C>T
DES(NM_001927.4):c.404C>T (p.A135V)
-
DES_000214
no second variant, VKGL data sharing initiative Nederland
PubMed: Nallamilli 2018
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Madhuri Hegde
,
VKGL-NL_AMC
?/.
1
-
c.406C>T
r.(?)
p.(Leu136Phe)
-
VUS
g.220283590C>T
-
DES(NM_001927.4):c.406C>T (p.L136F)
-
DES_000319
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/., ?/.
4
1
c.407T>A
r.(?)
p.(Leu136His)
-
likely pathogenic, VUS
g.220283591T>A
g.219418869T>A
DES(NM_001927.4):c.407T>A (p.(Leu136His))
-
DES_000215
no second variant, VKGL data sharing initiative Nederland
PubMed: Gonzalez-Quereda 2020
,
PubMed: Nallamilli 2018
-
rs397516695
CLASSIFICATION record, Germline, Unknown
-
-
-
-
-
Johan den Dunnen
,
Madhuri Hegde
,
VKGL-NL_Leiden
,
MobiDetails
+/., +?/.
3
1
c.407T>C
r.(?)
p.(Leu136Pro)
-
likely pathogenic, pathogenic (dominant)
g.220283591T>C
g.219418869T>C
DES(NM_001927.3):c.407T>C (p.L136P)
-
DES_000094
VKGL data sharing initiative Nederland
PubMed: Brodehl 2015
,
Journal: Brodehl 2015
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Pieter Klap
,
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
-/., -?/.
7
1
c.408C>T
r.(?)
p.(=), p.(Leu136=)
-
benign, likely benign
g.220283592C>T
g.219418870C>T
DES(NM_001927.3):c.408C>T (p.L136=, p.(Leu136=)), DES(NM_001927.4):c.408C>T (p.L136=)
-
DES_000051
VKGL data sharing initiative Nederland
PubMed: Park 2000
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
1
-
c.419T>G
r.(?)
p.(Val140Gly)
-
VUS
g.220283603T>G
-
-
-
DES_000348
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
1
-
c.429C>G
r.(?)
p.(=)
-
benign
g.220283613C>G
-
DES(NM_001927.4):c.429C>G (p.L143=)
-
DES_000334
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2
1
c.430A>T
r.(?)
p.(Lys144*)
-
pathogenic (dominant)
g.220283614A>T
g.219418892A>T
-
-
DES_000115
-
PubMed: Wahbi 2012
,
Journal: Wahbi 2012
-
-
Germline
-
-
-
-
-
Pieter Klap
?/.
1
-
c.449G>C
r.(?)
p.(Arg150Pro)
-
VUS
g.220283633G>C
g.219418911G>C
-
-
DES_000293
-
PubMed: Walsh 2017
-
-
Germline
-
1/304 cases
-
-
-
Johan den Dunnen
+?/.
1
-
c.478C>T
r.(?)
p.(Arg160Trp)
ACMG
VUS
g.220283662C>T
g.219418940C>T
-
-
DES_000331
-
-
-
-
Germline
-
-
-
-
-
Gianina Ravenscroft
+?/.
1
1
c.499G>C
r.(?)
p.(Glu167Gln)
-
likely pathogenic
g.220283683G>C
g.219418961G>C
-
-
DES_000084
-
-
-
-
Germline
-
-
-
-
-
Tom Winder
+/.
4
1
c.521_541del
r.(?)
p.(Ala174_Arg180del), p.Ala174_Arg180del
-
NA, pathogenic (recessive)
g.220283705_220283725del
g.219418983_219419003del
R173-E179del, R173_E179del
-
DES_000004
cloned in pCB6 hamsterDES, expressed in MCF7, COS cells; no IF formed, aggregates formed
PubMed: Munoz-Marmol 1998
,
OMIM:var0004
,
PubMed: Piñol-Ripoll 2009
-
-
Germline, In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.524G>A
r.(?)
p.(Arg175His)
-
VUS
g.220283708G>A
g.219418986G>A
-
-
DES_000273
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.548T>C
r.(?)
p.(Leu183Pro)
-
VUS
g.220283732T>C
g.219419010T>C
-
-
DES_000274
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
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