Global Variome shared LOVD
WRN (Werner syndrome, RecQ helicase-like)
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Unique variants in the WRN gene
The variants shown are described using the NM_000553.4 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
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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.
204 entries on 3 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
-
c.-213G>A
r.(=)
p.(=)
-
likely benign
g.30891353G>A
g.31033837G>A
-
-
WRN_000078
119 heterozygous;
Clinindb (India)
, 4 homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs11574158
Germline
-
119/2795 individuals, 4/2795 individuals
-
-
-
Mohammed Faruq
+/.
1
1i_18i
c.(-77+6980_-77+8528)_(2088+1025_2088+4222)dup
r.?
p.?
-
pathogenic (recessive)
g.(30898469_30900017)_(30959496_30962693)dup
g.(31040953_31042501)_(31101980_31105177)dup
hg18 g.(31018011_31019559)_(31079038_31082235)dup
-
WRN_000115
60 Kb duplication ex2-18
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
19i_35_
c.2273+376_*659{0}
r.?
p.?
-
pathogenic (recessive)
g.30969691_31522697delinsCTCACTGCAGCCTCAAACTCCTGGGTTCAAC
g.31112175_31665181delinsCTCACTGCAGCCTCAAACTCCTGGGTTCAAC
hg18 g.31231718-31784724delins32
-
WRN_000114
553-kb deletion from WRN to intron 1 NRG
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
24i_35_
c.2967+3316_*659{0}
r.0?
p.0?
-
pathogenic (recessive)
g.30993338_31332051delinsTCT
g.31135822_31474535delinsTCT
-
-
WRN_000126
339 Kb deletion; on Western blot no WRN protein
PubMed: Miller 2022
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
3
-
c.95A>G
r.(?)
p.(Lys32Arg)
-
likely benign
g.30916058A>G
g.31058542A>G
WRN(NM_000553.4):c.95A>G (p.K32R, p.(Lys32Arg)), WRN(NM_000553.6):c.95A>G (p.K32R)
-
WRN_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
-/.
3
2i
c.96+26T>C
r.=
p.=
-
benign
g.30916085T>C
-
-
-
WRN_000103
-
PubMed: Saha 2013
-
rs2737316
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
3
c.171C>G
r.(?)
p.(Tyr57*), p.(Tyr57Ter)
-
pathogenic, pathogenic (recessive)
g.30916743C>G
g.31059227C>G
-
-
WRN_000113
no variant 2nd chromosome
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
1
-
c.205dup
r.(205dup)
p.(Ile69Asnfs*2)
ACMG
likely pathogenic
g.30916777dup
g.31059261dup
205dupA
-
WRN_000097
-
-
-
-
Germline
-
-
-
-
-
Ana Osorio
?/.
1
-
c.217C>G
r.(?)
p.(Leu73Val)
-
VUS
g.30921812C>G
g.31064296C>G
WRN(NM_000553.6):c.217C>G (p.L73V)
-
WRN_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/.
1
-
c.326G>A
r.(?)
p.(Cys109Tyr)
-
VUS
g.30921921G>A
g.31064405G>A
-
-
WRN_000079
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs142346721
Germline
-
1/2795 individuals
-
-
-
Mohammed Faruq
-?/.
1
-
c.339C>T
r.(?)
p.(His113=)
-
likely benign
g.30921934C>T
g.31064418C>T
WRN(NM_000553.4):c.339C>T (p.H113=)
-
WRN_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
2
-
c.340G>A
r.(?)
p.(Val114Ile)
-
benign
g.30921935G>A
g.31064419G>A
-
-
WRN_000042
VKGL data sharing initiative Nederland
PubMed: Uhrhammer 2006
-
-
CLASSIFICATION record, Germline
-
1/18 cases WRN
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
-?/.
2
-
c.355+4G>C
r.spl?
p.?
-
likely benign
g.30921954G>C
-
WRN(NM_000553.4):c.355+4G>C, WRN(NM_000553.6):c.355+4G>C
-
WRN_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
-/.
1
-
c.355+20A>T
r.(=)
p.(=)
-
benign
g.30921970A>T
g.31064454A>T
-
-
WRN_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
2
4i
c.356-2A>C
r.356_366del, r.356_504del
p.Val119Alafs*10, p.Val119GlyfsTer7
-
pathogenic (recessive)
g.30922429A>C
g.31064913A>C
-
-
WRN_000118
-
PubMed: Huang 2006
,
PubMed: Friedrich 2010
,
PubMed: Uhrhammer 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
5
c.375A>T
r.(?)
p.(Lys125Asn)
-
pathogenic
g.30922450A>T
g.31064934A>T
-
-
WRN_000134
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
5
c.403A>G
r.(?)
p.(Lys135Glu)
-
VUS
g.30922478A>G
g.31064962A>G
-
-
WRN_000135
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.435G>A
r.(?)
p.(Trp145Ter)
-
pathogenic
g.30922510G>A
g.31064994G>A
-
-
WRN_000044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.452T>A
r.(?)
p.(Phe151Tyr)
-
likely benign
g.30922527T>A
g.31065011T>A
WRN(NM_000553.4):c.452T>A (p.F151Y)
-
WRN_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
2
5
c.474del
r.(?)
p.(Phe158LeufsTer4)
-
likely pathogenic, pathogenic (recessive)
g.30922549del
g.31065033del
474delT
-
WRN_000136
-
PubMed: Uhrhammer 2006
-
-
Germline, Unknown
-
-
-
-
-
Johan den Dunnen
,
MobiDetails
+/.
1
5
c.487_489delinsC
r.(?)
p.(Asp163ArgfsTer4)
-
pathogenic (recessive)
g.30922562_30922564delinsC
g.31065046_31065048delinsC
487_489delGATinsC
-
WRN_000137
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., ?/.
4
5
c.502_503del
r.(?)
p.(Lys168AlafsTer10)
-
pathogenic, pathogenic (recessive)
g.30922577_30922578del
g.31065061_31065062del
502_503delAA
-
WRN_000091
-
Yuen (unpublished),
PubMed: Jiang 2022
,
PubMed: Matsumoto 1997
-
-
Germline, Germline/De novo (untested)
-
1/486 cases
-
-
-
Johan den Dunnen
,
Jeanette Yuen
+/.
1
-
c.504+1G>A
r.spl?
p.?
-
pathogenic
g.30922580G>A
g.31065064G>A
-
-
WRN_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.505-4C>G
r.spl?
p.?
-
likely benign
g.30924545C>G
g.31067029C>G
WRN(NM_000553.6):c.505-4C>G
-
WRN_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/.
6
6
c.513C>T
r.(=), r.(?), r.513c>u
p.(Cys171=), p.Cys171=
-
benign
g.30924557C>T
g.31067041C>T
512T>C, 744T>C, WRN(NM_000553.6):c.513C>T (p.C171=)
-
WRN_000005
VKGL data sharing initiative Nederland
PubMed: Castro 1999
,
PubMed: Saha 2013
,
PubMed: Uhrhammer 2006
-
rs1800389
CLASSIFICATION record, Germline
-
3/18 cases WRN (C>T)
-
-
-
Johan den Dunnen
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
-?/.
1
-
c.514A>C
r.(?)
p.(Thr172Pro)
-
likely benign
g.30924558A>C
g.31067042A>C
WRN(NM_000553.4):c.514A>C (p.T172P)
-
WRN_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
4
6
c.561A>G
r.557_654del
p.Lys187Trpfs*13
-
pathogenic, pathogenic (recessive)
g.30924605A>G
g.31067089A>G
-
-
WRN_000102
no variant 2nd chromosome
PubMed: Miller 2022
,
PubMed: Saha 2013
,
PubMed: Yokote 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
./.
1
-
c.604A>T
r.(?)
p.(Lys202*)
-
VUS
g.30924648A>T
g.31067132A>T
-
-
WRN_000060
-
PubMed: Lhota 2016
-
-
Germline
-
-
-
-
-
Zdenek Kleibl
-?/.
1
-
c.645T>A
r.(?)
p.(Thr215=)
-
likely benign
g.30924689T>A
-
WRN(NM_000553.4):c.645T>A (p.T215=)
-
WRN_000087
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
6i
c.655-1G>A
r.655_724del
p.Ala219Argfs*9
-
pathogenic (recessive)
g.30925773G>A
g.31068257G>A
-
-
WRN_000138
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
-
c.684G>A
r.(?)
p.(Glu228=)
-
benign
g.30925803G>A
g.31068287G>A
Asn228 (silent)
-
WRN_000139
-
PubMed: Uhrhammer 2006
-
-
Germline
-
1/18 cases WRN
-
-
-
Johan den Dunnen
-?/.
1
-
c.703C>G
r.(?)
p.(Gln235Glu)
-
likely benign
g.30925822C>G
-
WRN(NM_000553.6):c.703C>G (p.Q235E)
-
WRN_000085
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/., ?/.
2
7
c.724G>C
r.(?), r.655_724del
p.(Glu242Gln), p.Ala219Argfs*9
-
pathogenic (recessive), VUS
g.30925843G>C
g.31068327G>C
-
-
WRN_000046
VKGL data sharing initiative Nederland
PubMed: Yokote 2017
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
+/.
1
7i
c.724+1G>T
r.655_724del
p.Ala219Argfs*9
-
pathogenic (recessive)
g.30925844G>T
g.31068328G>T
-
-
WRN_000140
-
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.742A>G
r.(?)
p.(Ser248Gly)
-
VUS
g.30933706A>G
g.31076190A>G
-
-
WRN_000092
-
PubMed: Jiang 2022
-
-
Germline/De novo (untested)
-
>1/309 cases
-
-
-
Johan den Dunnen
-/.
1
-
c.743G>T
r.(?)
p.(Ser248Ile)
-
benign
g.30933707G>T
g.31076191G>T
-
-
WRN_000141
-
PubMed: Uhrhammer 2006
-
-
Germline
-
5/18 cases WRN
-
-
-
Johan den Dunnen
?/.
1
-
c.822A>G
r.(?)
p.(=)
-
VUS
g.30933786A>G
-
WRN(NM_000553.6):c.822A>G (p.K274=)
-
WRN_000209
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/.
2
-
c.839+25del
r.(=), r.(?)
p.(=)
-
benign
g.30933828del
g.31076312del
839+14delT, WRN(NM_000553.6):c.839+25delT
-
WRN_000008
VKGL data sharing initiative Nederland
PubMed: Uhrhammer 2006
-
-
CLASSIFICATION record, Germline
-
2/18 cases WRN
-
-
-
Johan den Dunnen
,
VKGL-NL_VUmc
-/.
1
-
c.839+25dup
r.(=)
p.(=)
-
benign
g.30933828dup
g.31076312dup
WRN(NM_000553.6):c.839+25dupT
-
WRN_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/.
1
8i
c.839+1309T>G
r.(839_840ins[893+1139_893+1308;g])
p.(Arg280SerfsTer9)
-
pathogenic (recessive)
g.30935112T>G
-
-
-
WRN_000125
effect on RNA predicted from in vitro pSPL3 exon trapping
PubMed: Miller 2022
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
9
c.867_874del
r.(?)
p.(Glu290IlefsTer12)
-
pathogenic (recessive)
g.30938410_30938417del
g.31080894_31080901del
867_874delAGAAAATC
-
WRN_000142
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/., -?/.
4
-
c.970A>G
r.(?)
p.(Thr324Ala)
-
benign, likely benign
g.30938513A>G
g.31080997A>G
1201A>G (T324A), WRN(NM_000553.4):c.970A>G (p.T324A), WRN(NM_000553.6):c.970A>G (p.T324A)
-
WRN_000009
VKGL data sharing initiative Nederland
PubMed: Castro 1999
,
PubMed: Uhrhammer 2006
-
-
CLASSIFICATION record, Germline
-
1/18 cases WRN
-
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
+/.
1
-
c.979G>T
r.(979g>u)
p.(Gly327*)
ACMG
pathogenic
g.30938522G>T
-
-
-
WRN_000098
-
-
-
-
Germline
-
-
-
-
-
Ana Osorio
+/.
1
-
c.1012_1018del
r.(?)
p.(Val338Phefs*15)
-
pathogenic
g.30938555_30938561del
-
WRN(NM_000553.6):c.1012_1018delGTTTTAA (p.V338Ffs*15)
-
WRN_000143
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
+/.
55
9
c.1105C>T
r.(?), r.1105c>u
p.(Arg369Ter), p.Arg369*
-
pathogenic, pathogenic (recessive)
g.30938648C>T
g.31081132C>T
1335G>A, 1336G>A, mut6 1336C>T, WRN(NM_000553.6):c.1105C>T (p.R369*)
-
WRN_000010
no variant 2nd chromosome, VKGL data sharing initiative Nederland
PubMed: Friedrich 2010
,
PubMed: Huang 2006
,
PubMed: Matsumoto 1997
,
PubMed: Oshima 1996
,
4 more items
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
+/.
1
9
c.1123_1124delinsC
r.(?)
p.(Glu375GlnfsTer4)
-
pathogenic (recessive)
g.30938666_30938667delinsC
g.31081150_31081151delinsC
1123_1124delGAinsC
-
WRN_000144
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
2
-
c.1149G>T
r.(?)
p.(Leu383Phe)
-
likely benign
g.30938692G>T
g.31081176G>T
WRN(NM_000553.4):c.1149G>T (p.L383F)
-
WRN_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
-/.
1
-
c.1155G>A
r.(?)
p.(Glu385=)
-
benign
g.30938698G>A
-
WRN(NM_000553.6):c.1155G>A (p.E385=)
-
WRN_000094
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/., ?/.
10
9
c.1161G>A
r.(?), r.1161g>a
p.(Met387Ile), p.Met387Ile
-
benign, VUS
g.30938704G>A
g.31081188G>A
1392G>A, 1392G>A (M387I)
-
WRN_000047
VKGL data sharing initiative Nederland
PubMed: Castro 1999
,
PubMed: Meisslitzer 1997
,
PubMed: Saha 2013
,
PubMed: Uhrhammer 2006
,
1 more item
-
rs1800391
CLASSIFICATION record, Germline
-
4/18 cases WRN
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
+/.
13
9
c.1165del
r.(?), r.1165del
p.(Arg389GlufsTer4), p.Arg389Glufs*4, p.Arg389GlufsTer4
-
pathogenic (recessive)
g.30938708del
g.31081192del
1165delA, 1194-1196delA, 1396delA
-
WRN_000117
-
PubMed: Friedrich 2010
,
PubMed: Huang 2006
,
PubMed: Meisslitzer 1997
,
PubMed: Muller 2005
,
5 more items
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
9
c.1252_1255del
r.(?)
p.(Ala418IlefsTer19)
-
pathogenic
g.30938795_30938798del
g.31081279_31081282del
1250_1253delTTGC
-
WRN_000145
no variant 2nd chromosome
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1269+4C>T
r.spl?
p.?
-
VUS
g.30938816C>T
g.31081300C>T
WRN(NM_000553.4):c.1269+4C>T (p.?)
-
WRN_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-/.
1
9i
c.1269+36A>G
r.=
p.=
-
benign
g.30938848A>G
-
-
-
WRN_000129
-
PubMed: Miller 2022
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
10
c.1275_1278dup
r.(?)
p.(Pro427IlefsTer4)
-
pathogenic (recessive)
g.30941220_30941223dup
g.31083704_31083707dup
1509_1520insATCT
-
WRN_000146
-
PubMed: Oshima 1996
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.1290_1293del
r.(?)
p.(Asn430LysfsTer7)
-
pathogenic
g.30941235_30941238del
-
-
-
WRN_000208
-
-
-
rs1389340786
CLASSIFICATION record
-
-
-
-
-
MobiDetails
+/.
4
10
c.1316_1319del
r.(?)
p.(Glu439ValfsTer5)
-
pathogenic (recessive)
g.30941261_30941264del
g.31083745_31083748del
1316_1319delAGAG
-
WRN_000147
-
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
2
10i
c.1350+22T>C
r.=
p.=
-
benign
g.30941317T>C
-
-
-
WRN_000104
-
PubMed: Saha 2013
-
rs2737325
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.1351-5del
r.spl?
p.?
-
likely benign
g.30942677del
-
WRN(NM_000553.4):c.1351-5delT
-
WRN_000207
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+/.
1
11
c.1389T>A
r.(?)
p.(Tyr463Ter)
-
pathogenic (recessive)
g.30942720T>A
g.31085204T>A
mut9 1620T>A
-
WRN_000148
-
PubMed: Matsumoto 1997
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
-
c.1432-3C>A
r.(?)
p.(=)
-
benign
g.30945289C>A
g.31087773C>A
1433-3C>A
-
WRN_000149
incl. 1 homozygous case
PubMed: Uhrhammer 2006
-
-
Germline
-
1/18 cases WRN
-
-
-
Johan den Dunnen
+/.
1
12
c.1462G>T
r.(?)
p.(Glu488Ter)
-
pathogenic (recessive)
g.30945322G>T
g.31087806G>T
-
-
WRN_000150
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
12
c.1486A>T
r.(?)
p.(Lys496Ter)
-
pathogenic (recessive)
g.30945346A>T
g.31087830A>T
-
-
WRN_000151
-
PubMed: Huang 2006
,
PubMed: Yokote 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
12
c.1486_1489del
r.(?)
p.(Lys496TrpfsTer60)
-
pathogenic (recessive)
g.30945346_30945349del
g.31087830_31087833del
1486_1489delAAAA
-
WRN_000152
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.1504G>A
r.(?)
p.(Gly502Ser)
-
likely benign
g.30945364G>A
g.31087848G>A
WRN(NM_000553.4):c.1504G>A (p.G502S)
-
WRN_000063
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.1504G>C
r.(?)
p.(Gly502Arg)
-
likely benign
g.30945364G>C
g.31087848G>C
WRN(NM_000553.6):c.1504G>C (p.G502R)
-
WRN_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/.
1
-
c.1527_1532del
r.(?)
p.(Glu509_Glu510del)
-
VUS
g.30945387_30945392del
g.31087871_31087876del
WRN(NM_000553.4):c.1527_1532delAGAAGA (p.E509_E510del)
-
WRN_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.1530A>T
r.(?)
p.(Glu510Asp)
-
likely benign
g.30945390A>T
g.31087874A>T
WRN(NM_000553.4):c.1530A>T (p.E510D)
-
WRN_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.1577-3C>A
r.spl?
p.?
-
benign
g.30946403C>A
g.31088887C>A
-
-
WRN_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
13
c.1578del
r.(?)
p.(Leu528CysfsTer29)
-
pathogenic (recessive)
g.30946407del
g.31088891del
1578delC
-
WRN_000153
-
PubMed: Yokote 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
13
c.1586G>A
r.(?)
p.(Trp529Ter)
-
pathogenic (recessive)
g.30946415G>A
g.31088899G>A
-
-
WRN_000154
-
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.1652+1G>A
r.spl?
p.?
-
pathogenic
g.30946482G>A
g.31088966G>A
-
-
WRN_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
14
c.1674_1677del
r.(?)
p.(His558GlnfsTer3)
-
pathogenic (recessive)
g.30948002_30948005del
g.31090486_31090489del
1674_1677delTTCA
-
WRN_000155
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1706C>T
r.(?)
p.(Ala569Val)
-
VUS
g.30948034C>T
-
WRN(NM_000553.4):c.1706C>T (p.A569V)
-
WRN_000095
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.1717A>G
r.(?)
p.(Thr573Ala)
-
VUS
g.30948045A>G
-
WRN(NM_000553.4):c.1717A>G (p.T573A)
-
WRN_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
2
14
c.1720G>A
-, r.(?)
p.(Gly574Arg), p.Gly574Arg
-
likely pathogenic (recessive), NA
g.30948048G>A
-
-
-
WRN_000121
1 more item
PubMed: Friedrich 2010
,
PubMed: Tadokoro 2013
-
-
Germline, In vitro (cloned)
-
-
-
-
-
Johan den Dunnen
+/.
1
14i
c.1720+1G>A
r.1653_1720del
p.Val552Ilefs*36
-
pathogenic (recessive)
g.30948049G>A
g.31090533G>A
-
-
WRN_000156
-
PubMed: Yokote 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
-
c.1721+25A>T
r.(?)
p.(=)
-
benign
g.30948375G>T
g.31090859G>T
1717+25A>T
-
WRN_000157
incl. 2 homozygous cases
PubMed: Uhrhammer 2006
-
-
Germline
-
3/18 cases WRN
-
-
-
Johan den Dunnen
-/.
1
-
c.1788T>C
r.(?)
p.(Ser596=)
-
benign
g.30948417T>C
g.31090901T>C
WRN(NM_000553.6):c.1788T>C (p.S596=)
-
WRN_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/.
1
15
c.1801_1802del
r.(?)
p.(Leu601AspfsTer9)
-
pathogenic (recessive)
g.30948430_30948431del
g.31090914_31090915del
1799_1800delCT
-
WRN_000158
-
PubMed: Huang 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
15i
c.1829+2T>G
r.1721_1829del
p.Gly574Glufs*19
-
pathogenic (recessive)
g.30948460T>G
g.31090944T>G
-
-
WRN_000159
-
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.1830-3T>C
r.spl?
p.?
-
likely benign
g.30949343T>C
g.31091827T>C
WRN(NM_000553.6):c.1830-3T>C
-
WRN_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/.
1
-
c.1899-19C>T
r.(=)
p.(=)
-
benign
g.30954265C>T
g.31096749C>T
WRN(NM_000553.6):c.1899-19C>T
-
WRN_000015
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/.
1
-
c.1899-14G>T
r.(=)
p.(=)
-
benign
g.30954270G>T
g.31096754G>T
WRN(NM_000553.6):c.1899-14G>T
-
WRN_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/., -?/.
2
-
c.1899-10G>T
r.(=)
p.(=)
-
benign, likely benign
g.30954274G>T
g.31096758G>T
WRN(NM_000553.4):c.1899-10G>T, WRN(NM_000553.6):c.1899-10G>T
-
WRN_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
-?/.
1
-
c.1899-5_1899-4insTTAT
r.spl?
p.?
-
likely benign
g.30954279_30954280insTTAT
g.31096763_31096764insTTAT
WRN(NM_000553.6):c.1899-5_1899-4insTTAT
-
WRN_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
1
-
c.1899-4A>T
r.spl?
p.?
-
likely benign
g.30954280A>T
g.31096764A>T
WRN(NM_000553.6):c.1899-4A>T
-
WRN_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/.
1
16i
c.1899-3C>G
r.1898_1899insAG
p.Gly634Glufs*9
-
pathogenic (recessive)
g.30954281C>G
g.31096765C>G
-
-
WRN_000160
-
PubMed: Yokote 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
1
-
c.1899-2A>T
r.spl?
p.?
-
likely pathogenic
g.30954282A>T
-
WRN(NM_000553.4):c.1899-2A>T
-
WRN_000096
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
17
c.1909C>T
r.(?)
p.(Arg637Trp)
-
pathogenic (recessive)
g.30954294C>T
g.31096778C>T
1909A>T (R637W)
-
WRN_000161
-
PubMed: Uhrhammer 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1937G>A
r.(?)
p.(Cys646Tyr)
-
VUS
g.30954322G>A
-
WRN(NM_000553.6):c.1937G>A (p.C646Y)
-
WRN_000086
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-?/.
1
-
c.1981+11A>G
r.(=)
p.(=)
-
likely benign
g.30954377A>G
g.31096861A>G
WRN(NM_000553.6):c.1981+11A>G
-
WRN_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/.
2
17i
c.1982-297A>G
r.(1981_1982ins[1982-369_1982-298;g]), r.1981_1982ins[1982-369_1982-298;g]
p.?
-
pathogenic (recessive)
g.30958068A>G
-
-
-
WRN_000128
-
PubMed: Miller 2022
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
4
17i
c.1982-5del
r.=, r.spl?
p.=, p.?
-
benign
g.30958360del
g.31100844del
1982-11delT, WRN(NM_000553.6):c.1982-5delT
-
WRN_000021
VKGL data sharing initiative Nederland
PubMed: Saha 2013
-
rs3087419
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Groningen
+/.
1
17i
c.1982-1G>A
r.spl
p.?
-
pathogenic (recessive)
g.30958364G>A
-
-
-
WRN_000120
-
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
18
c.2003_2004del
r.(?)
p.(Asp668GlyfsTer7)
-
pathogenic (recessive)
g.30958386_30958387del
g.31100870_31100871del
2003delAC (D668fs)
-
WRN_000162
-
PubMed: Uhrhammer 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
-
c.2040T>C
r.(?)
p.(Phe680=)
-
benign
g.30958423T>C
g.31100907T>C
-
-
WRN_000163
-
PubMed: Uhrhammer 2006
-
-
Germline
-
3/18 cases WRN
-
-
-
Johan den Dunnen
+/.
1
18
c.2055del
r.(?)
p.(Lys686SerfsTer5)
-
pathogenic (recessive)
g.30958438del
g.31100922del
2055delG
-
WRN_000164
-
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.2067C>T
r.(?)
p.(Ser689=)
-
likely benign
g.30958450C>T
g.31100934C>T
WRN(NM_000553.4):c.2067C>T (p.S689=)
-
WRN_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.2078C>G
r.(?)
p.(Ala693Gly)
-
likely benign
g.30958461C>G
-
WRN(NM_000553.4):c.2078C>G (p.A693G)
-
WRN_000082
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
18i_23i
c.2088+651_2825+3670del
r.?
p.?
-
pathogenic (recessive)
g.30959122_30986186del
g.31101606_31128670del
chr8:g.31,078,664_31,105,734del, r.2320_3056del, chr8:g.31,078,664_31,105,734del
-
WRN_000165
-
PubMed: Friedrich 2010
,
PubMed: Oshima 1996
,
PubMed: Friedrich 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
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