Global Variome shared LOVD
IDS (iduronate 2-sulfatase)
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Curators:
Global Variome, with Curator vacancy
and
Johan den Dunnen
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Unique variants in the IDS gene
The variants shown are described using the NM_000202.5 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
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.
268 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
+/.
1
1i
c.?inv
r.?
p.?
-
pathogenic
g.?
-
-
-
IDS_000095
-
PubMed: Rathmann 1996
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
_1_1i
c.(?_-217)_(103+1_104-1)del)
r.0?
p.0?
-
pathogenic
g.(148585824_148586564)_(148586884_?)del
-
exon 1 deletion
-
IDS_000169
exon 1 deletion, breakpoint not sequenced
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
-
-
Germline
-
-
-
-
-
Miguel Angel Alcántara-Ortigoza
+/.
11
1_7i
c.(?_-217)_(1006+1_1007-1)inv
r.?
p.0, p.?
-
pathogenic
g.(148568630_148571844)_(148586884_?)inv
-
-
-
IDS_000082
inversion IDS-intron7 / IDS2 exon3; present in 13% patients, recombination IDS/IDS2 gene,
1 more item
PubMed: Alves 2006
,
PubMed: Bondeson 1995
,
PubMed: Isogai 1998
,
PubMed: Moreira da Silva 2001
-
-
De novo, Germline
-
-
-
-
-
Johan den Dunnen
,
Yu Sun
+/.
3
_1_7i
c.(?_-217)_(1006+1_1107-1)inv
r.?
p.?
-
pathogenic
g.(148568630_148571844)_(148586884_?)inv
-
IDS inversion IDSP1-mediated
-
IDS_000000
IDS inversion IDSP1-mediated, IDS inversion IDSP1-mediated.
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
-
-
Germline
-
-
HinfI
-
-
Miguel Angel Alcántara-Ortigoza
+/.
1
_1_9_
c.(?_-217)_(*3982_?)del
r.0
p.0
-
pathogenic
g.(147300000_147392284)_(149225394_149300000)del
-
-
arrXq28(147,392,284-149,225,394)x0
IDS_000170
1.83 Mb complete AFF2/IDS/IDSP1 contiguous deletion. FMR1 preserved
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
-
-
De novo
-
-
-
-
-
Miguel Angel Alcántara-Ortigoza
+/.
2
1_6i
c.(?_-199)_(879+1_880-1)del
r.0
p.0
-
pathogenic
g.?
-
del ex1-6
-
IDS_000010
deletion extends 200 kb upstream
PubMed: Birot 1996
,
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
15
_1_9_
c.(?_-199)_(*3979_?)del
r.0
p.0
-
pathogenic
g.?
-
-
-
IDS_000156
complete gene deletion, complete gene deletion incl. DXS 295, DXS466; DXS296 and DXS304 present,
11 more items
PubMed: Alves 2006
,
PubMed: Beck
,
OMIM:var0007
,
PubMed: Bunge
,
PubMed: Flomen 1992
,
OMIM:var0002
,
5 more items
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Yu Sun
+/.
3
_1_9_
c.(?_-1)_(*1_?)del
r.0
p.0
-
pathogenic
g.(147000000_147340291_148731894_149000000)del, g.(148000000_148176414)_(148738845_149000000)del,
1 more item
-
-
arr Xq28(147,340,291-148,731,894)x0, arr Xq28(148,176,414-148,738,845)x0 mat,
1 more item
IDS_000188, IDS_000189
1.39 Mb complete AFF2/IDS/IDSP1 contiguous deletion, FMR1 preserved,
2 more items
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
-
-
De novo, Germline
-
-
-
-
-
Miguel Angel Alcántara-Ortigoza
+/.
1
3
c.(285_288)[del3]
r.(?)
p.(Arg96del)
-
pathogenic
g.(148584972_148584975)[del3]
-
-
-
IDS_000030
-
PubMed: Froisart 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.19G>C
r.(?)
p.(Gly7Arg)
-
likely benign
g.148586649C>G
g.149505119C>G
IDS(NM_000202.7):c.19G>C (p.G7R)
-
IDS_000249
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
1
c.21_22insG
r.(?)
p.Arg8fs
-
pathogenic
g.148586646_148586647insC
g.149505116_149505117insC
-
-
IDS_000141
-
PubMed: Kim 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
3
1
c.22C>T
r.(?), r.22c>u
p.(Arg8*), p.Arg8*
-
pathogenic
g.148586646G>A
g.149505116G>A
-
-
IDS_000019
-
PubMed: Filocamo 2001
,
PubMed: Vafiadaki 1998
, {PMID:Vafiadaki 1998}
-
-
Germline
-
-
-EagI
-
-
Johan den Dunnen
+/.
1
1
c.22_37del
r.(?)
p.(Arg8Trpfs*5)
-
pathogenic
g.148586634_148586649del
g.149505104_149505119del
22_37del16pb
-
IDS_000214
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
-?/.
1
-
c.23G>T
r.(?)
p.(Arg8Leu)
-
likely benign
g.148586645C>A
g.149505115C>A
IDS(NM_000202.7):c.23G>T (p.R8L)
-
IDS_000245
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
1
c.35G>A
r.35g>a
p.Trp12*
-
pathogenic
g.148586633C>T
g.149505103C>T
-
-
IDS_000057
-
PubMed: Filocamo 2001
-
-
Germline
-
-
MaeI+
-
-
Johan den Dunnen
+/.
1
1
c.71dup
r.(?)
p.(Gly25Argfs*22)
-
pathogenic
g.148586597dup
g.149505067dup
70_71insT
-
IDS_000124
-
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
1
c.71_90del
r.(?)
p.Ala23fs
-
pathogenic
g.148586580_148586599del
g.149505050_149505069del
69_88del
-
IDS_000136
-
PubMed: Kim 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
1i
c.103+2T>A
r.spl?
p.?
-
pathogenic
g.148586563A>T
g.149505033A>T
IVS1+2T>A
-
IDS_000072
-
PubMed: Froisart 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.103+4C>T
r.spl?
p.?
-
likely benign
g.148586561G>A
-
IDS(NM_000202.8):c.103+4C>T
-
IDS_000267
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-?/.
1
-
c.103+7C>T
r.(=)
p.(=)
-
likely benign
g.148586558G>A
-
IDS(NM_000202.7):c.103+7C>T
-
IDS_000266
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
3
1i
c.104-2A>G
r.spl?, r.[103_104ins104-216_104-1;104-2a>g, 104_212del],
1 more item
p.?, p.fs*
-
pathogenic
g.148585825T>C
g.149504295T>C
IVS1-2A>G
-
IDS_000023
RNA level 0.7 of normal
PubMed: Alves 2006
,
PubMed: Moreira da Silva 2001
,
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Yu Sun
+/.
1
1i
c.104-1G>A
r.(104_240del)
p.(Asp35Alafs*18)
-
pathogenic
g.148585824C>T
g.149504294C>T
-
-
IDS_000184
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/.
1
1i
c.104-?_507+?del
r.104_507del
p.?
-
pathogenic
g.148582480_148585823del
-
g.376_5725del, del ex2-4
-
IDS_000035
1 more item
{PMID:Bonuccelli 1998}
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.104A>G
r.(?)
p.(Asp35Gly)
-
likely benign
g.148585823T>C
g.149504293T>C
IDS(NM_000202.7):c.104A>G (p.D35G)
-
IDS_000232
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
2
c.121_123del
r.(?)
p.Leu41del
-
pathogenic
g.148585804_148585806del
g.149504274_149504276del
-
-
IDS_000142
-
PubMed: Kim 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2
c.133G>A
r.(?)
p.(Asp45Asn)
-
pathogenic
g.148585794C>T
g.149504264C>T
-
-
IDS_000132
-
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2
c.133G>C
r.(?)
p.(Asp45His)
-
pathogenic
g.148585794C>G
g.149504264C>G
-
-
IDS_000158
1 more item
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
-
-
Germline
-
-
MwoI
-
-
Miguel Angel Alcántara-Ortigoza
+/.
1
2
c.143G>C
r.143g>c
p.Arg48Pro
-
pathogenic
g.148585784C>G
g.149504254C>G
-
-
IDS_000045
-
PubMed: Sukegawa 1995
-
-
Germline
-
-
HhaI-
-
-
Johan den Dunnen
+/., +?/.
2
2
c.181T>C
r.(?)
p.(Ser61Pro)
-
likely pathogenic, pathogenic
g.148585746A>G
g.149504216A>G
IDS, variant 1: c.181T>C/p.S61P
-
IDS_000213
solved, hemizygous
PubMed: Weisschuh 2020
-
-
Germline, Unknown
?
-
-
-
-
Paula Rozenfeld
+/.
2
2
c.187A>G
r.(?)
p.(Asn63Asp), p.Asn63Asp
-
pathogenic
g.148585740T>C
g.149504210T>C
-
-
IDS_000102
-
PubMed: Rathmann 1996
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Paula Rozenfeld
+/.
1
-
c.209dup
r.(?)
p.(His70Glnfs*29)
-
pathogenic
g.148585718dup
g.149504189dup
-
-
IDS_000253
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs797044671
Germline
-
2/2779 individuals
-
-
-
Mohammed Faruq
+/.
1
2
c.212G>A
r.(?)
p.(Ser71Asn)
-
pathogenic
g.148585715C>T
g.149504185C>T
-
-
IDS_000212
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/.
1
2
c.223C>T
r.(?)
p.(Gln75*)
-
pathogenic
g.148585704G>A
g.149504174G>A
-
-
IDS_000159
-
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
-
-
Germline
-
-
-
-
-
Miguel Angel Alcántara-Ortigoza
?/.
1
-
c.236C>G
r.(?)
p.(Ala79Gly)
-
VUS
g.148585691G>C
g.149504161G>C
IDS(NM_000202.5):c.236C>G (p.(Ala79Gly))
-
IDS_000243
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
1
-
c.237G>A
r.(?)
p.(Ala79=)
-
likely benign
g.148585690C>T
-
IDS(NM_001166550.3):c.11G>A (p.R4H)
-
IDS_000265
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
2
c.238C>T
r.(?), r.238c>u
p.(Gln80*), p.Gln80*
-
pathogenic
g.148585689G>A
g.149504159G>A
-
-
IDS_000048
-
{PMID:Carrozzo 1996},
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2i
c.240+1G>A
r.spl?
p.?
-
pathogenic
g.148585686C>T
g.149504156C>T
IVS2+1G>A
-
IDS_000083
-
PubMed: Froisart 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2i
c.240+1G>T
r.104_240del
p.Asp35Alsfs*18
-
pathogenic
g.148585686C>A
g.149504156C>A
-
-
IDS_000034
-
PubMed: Isogai 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
1
-
c.240+2T>C
r.spl?
p.?
ACMG
likely pathogenic (recessive)
g.148585685A>G
-
-
-
IDS_000272
ACMG: PVS1, PM2_SUP (predicted out-of-frame skipping of ex 2)
-
-
-
Germline
?
-
-
-
-
Andreas Laner
+/.
1
3i_7i
c.240+12_(1006+1_1007-1)delins(?)
r.[241_1006del, 419_1006del]
p.[Gln81Glyfs*4, Ile141_Gly336del]
-
pathogenic
g.?
-
-
-
IDS_000000
1 more item
PubMed: Birot 1996
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3i_7i
c.240+76_1007-1089delins[KT724868:g.261_2375]
r.(?)
p.(Gln81Glyfs*4)
-
pathogenic
g.148569718_148585611delins148606691_148608805
-
NG_011900.3:g.6129_22625delinsAC244197.3:g.45710_48426
-
IDS_000171
chimeric IDS-IDSP1 allele replacing IDS exons 4 to 7 with a partial IDSP1 insertion (KT724868)
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
,
GenBank KT724868
-
-
Germline
-
-
-
-
-
Miguel Angel Alcántara-Ortigoza
+/.
1
2i
c.241-10T>G
r.[241_284del, =]
p.[Gln81Glufs*3, =]
-
pathogenic
g.148585029A>C
g.149503499A>C
IVS2-10T>G
-
IDS_000025
-
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2i
c.241-5A>T
r.241_418del
p.Gln81Glyfs*73
-
pathogenic
g.148585024T>A
g.149503494T>A
-
-
IDS_000186
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/.
1
2i
c.241-2A>G
r.[241_284del, 241_418del]
p.[Gln81Glufs*3, Gln81Glyfs*73]
-
pathogenic
g.148585021T>C
g.149503491T>C
-
-
IDS_000148
RNA level 1.1 of normal
PubMed: Alves 2006
-
-
Germline
-
-
-
-
-
Yu Sun
+/.
1
2i
c.241-1G>A
r.[241_284del, 241_418del]
p.[Gln81Glufs*3, Gln81Glyfs*73]
-
pathogenic
g.148585020C>T
g.149503490C>T
-
-
IDS_000149
RNA level 0.8 of normal
PubMed: Alves 2006
-
-
Germline
-
-
-
-
-
Yu Sun
+/.
2
3
c.252C>A
r.(?)
p.(Cys84*)
-
pathogenic
g.148585008G>T
g.149503478G>T
-
-
IDS_000133
-
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
5
3
c.253G>A
r.(?), r.253g>a
p.(Ala85Thr), p.Ala85Thr
-
pathogenic
g.148585007C>T
g.149503477C>T
-
-
IDS_000049
-
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
,
PubMed: Froisart 2007
,
2 more items
-
-
Germline
-
-
HhaI, HhaI-
-
-
Johan den Dunnen
,
Miguel Angel Alcántara-Ortigoza
,
Paula Rozenfeld
+/.
1
3
c.253G>T
r.(?)
p.(Ala85Ser)
-
pathogenic
g.148585007C>A
g.149503477C>A
-
-
IDS_000007
-
PubMed: Froisart 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3
c.257C>A
r.(?)
p.Pro86Gln
-
pathogenic
g.148585003G>T
g.149503473G>T
-
-
IDS_000099
-
PubMed: Rathmann 1996
-
-
De novo
-
-
-
-
-
Johan den Dunnen
+/.
7
3
c.257C>T
r.(?), r.257c>u, r.[257c>u, 241_284del]
p.(Pro86Leu), p.Pro86Leu, p.[Pro86Leu, Gln81Glufs*3]
-
pathogenic
g.148585003G>A
g.149503473G>A
IDS(NM_000202.7):c.257C>T (p.P86L)
-
IDS_000026
RNA level 0.7 of normal, VKGL data sharing initiative Nederland
PubMed: Alves 2006
,
PubMed: Isogai 1998
,
PubMed: Popowska 1995
,
PubMed: Vafiadaki 1998
-
-
CLASSIFICATION record, Germline
-
-
AvaI-, DdaI+
-
-
Johan den Dunnen
,
Yu Sun
,
VKGL-NL_Rotterdam
+/.
2
3
c.260G>A
r.(?), r.260g>a
p.(Ser87Asn), p.Ser87Asn
-
pathogenic
g.148585000C>T
g.149503470C>T
-
-
IDS_000050, IDS_000150
-
PubMed: Popowska 1995
-
-
Germline
-
-
AvaI-
-
-
Johan den Dunnen
,
Janell Kierstein
+/.
6
2, 3
c.262C>T
r.(?)
p.(Arg88Cys), p.Arg88Cys
-
pathogenic
g.148584998G>A
g.149503468G>A
386C>T
-
IDS_000018
RNA level 1.5 of normal
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
,
PubMed: Alves 2006
,
2 more items
-
-
De novo, Germline
-
-
AluI+
-
-
Johan den Dunnen
,
Yu Sun
,
Miguel Angel Alcántara-Ortigoza
+/., ?/.
9
3
c.263G>A
r.(?), r.263g>a
p.(Arg88His), p.Arg88His
-
pathogenic, VUS
g.148584997C>T
g.149503467C>T
R88H
-
IDS_000002
unique variant
PubMed: Filocamo 2001
,
PubMed: Froisart 2007
,
PubMed: Gort 1998}, {PMID
,
PubMed: Rathmann 1996
,
1 more item
-
-
Germline
-
1/208
+MaeII
-
-
Johan den Dunnen
,
Lucy Raymond
+/.
1
3
c.263G>C
r.263g>c
p.Arg88Pro
-
pathogenic
g.148584997C>G
g.149503467C>G
-
-
IDS_000051
-
PubMed: Balzano 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.264C>T
r.(?)
p.(Arg88=)
-
likely benign
g.148584996G>A
-
IDS(NM_000202.7):c.264C>T (p.R88=)
-
IDS_000264
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/., ?/.
2
-
c.265G>A
r.(?)
p.(Val89Ile)
-
likely benign, VUS
g.148584995C>T
g.149503465C>T
IDS(NM_000202.5):c.265G>A (p.(Val89Ile)), IDS(NM_000202.7):c.265G>A (p.V89I)
-
IDS_000231
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
+/.
1
3
c.265G>T
r.(?)
p.(Val89Phe)
-
pathogenic
g.148584995C>A
g.149503465C>A
-
-
IDS_000008
-
PubMed: Froisart 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3
c.275T>C
r.275u>c
p.Leu92Pro
-
pathogenic
g.148584985A>G
g.149503455A>G
-
-
IDS_000052
-
PubMed: Popowska 1995
-
-
Germline
-
-
MnlI-
-
-
Johan den Dunnen
+/.
1
3
c.284G>C
r.284g>c
p.Arg95Thr
-
pathogenic
g.148584976C>G
g.149503446C>G
408G>C
-
IDS_000053
-
PubMed: Moreira da Silva 2001
-
-
Germline
-
-
BssSI+
-
-
Johan den Dunnen
+/.
1
3
c.288del
r.288del
p.Arg96Serfs*34
-
pathogenic
g.148584972del
g.149503442del
412delA
-
IDS_000054
-
PubMed: Popowska 1995
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.301C>T
r.(?)
p.(Arg101Cys)
-
VUS
g.148584959G>A
g.149503429G>A
IDS(NM_000202.7):c.301C>T (p.R101C)
-
IDS_000230
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
3
c.308C>G
r.[309c>g, 241_418del]
p.[Tyr103*, Gln81Glyfs*73]
-
pathogenic
g.148584952G>C
-
433C>G, g2772C>G
-
IDS_000027
1 more item
PubMed: Bonuccelli 2000
-
-
Germline
-
-
RsaI-
-
-
Johan den Dunnen
+/.
1
3
c.323A>G
r.(?)
p.Tyr108Cys
-
pathogenic
g.148584937T>C
g.149503407T>C
TAC-TGC
-
IDS_000090
-
PubMed: Rathmann 1996
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3
c.343A>T
r.(?)
p.(Asn115Tyr)
-
pathogenic
g.148584917T>A
g.149503387T>A
-
-
IDS_000128
-
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
5
3, 4
c.349_351del
r.(?), r.349_351del
p.(Ser117del), p.Ser117del
-
pathogenic
g.148584910_148584912del
g.149503380_149503382del
472delTCC
-
IDS_000055
-
PubMed: Filocamo 2001
,
PubMed: Froisart 2007
,
PubMed: Rathmann 1996
,
PubMed: Sukegawa 1995
-
-
Germline
-
-
+HphI
-
-
Johan den Dunnen
+/.
1
3
c.353C>A
r.(?)
p.Ser117Tyr
-
pathogenic
g.148584907G>T
g.149503377G>T
-
-
IDS_000143
-
PubMed: Kim 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
3
c.353C>T
r.(?), r.353c>u
p.(Thr118Ile), p.Thr118Ile
-
pathogenic
g.148584907G>A
g.149503377G>A
-
-
IDS_000056
-
PubMed: Balzano 1998
,
PubMed: Froisart 2007
-
-
Germline
-
-
Sau3A+
-
-
Johan den Dunnen
+/.
1
3
c.359C>A
r.(?)
p.(Pro120His)
-
pathogenic
g.148584901G>T
g.149503371G>T
-
-
IDS_000211
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/.
1
3
c.374A>T
r.(?)
p.Glu125Val
-
pathogenic
g.148584886T>A
g.149503356T>A
-
-
IDS_000096
-
PubMed: Rathmann 1996
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.398T>C
r.(?)
p.(Val133Ala)
-
VUS
g.148584862A>G
-
IDS(NM_000202.8):c.398T>C (p.V133A)
-
IDS_000259
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
+/.
1
3
c.400G>C
r.(?)
p.Gly134Arg
-
pathogenic
g.148584860C>G
g.149503330C>G
-
-
IDS_000098
-
PubMed: Rathmann 1996
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3
c.401G>A
r.(?)
p.(Gly134Glu)
-
pathogenic
g.148584859C>T
g.149503329C>T
-
-
IDS_000210
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/., ?/.
2
3
c.404A>G
r.(?)
p.(Lys135Arg)
-
pathogenic, VUS
g.148584856T>C
g.149503326T>C
-
-
IDS_000006
-
PubMed: Bunge
,
OMIM:var0009
-
rs28937311
Germline, Not applicable
-
-
-
-
-
Johan den Dunnen
+/.
1
3
c.405A>T
r.405a>u
p.Lys135Asn
-
pathogenic
g.148584855T>A
g.149503325T>A
-
-
IDS_000058
-
PubMed: Popowska 1995
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.410T>C
r.(?)
p.(Phe137Ser)
-
pathogenic
g.148584850A>G
g.149503320A>G
IDS(NM_000202.7):c.410T>C (p.F137S)
-
IDS_000229
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
3
c.410_411del
r.410_411del
p.Thr138Serfs*6
-
pathogenic
g.148584850_148584851del
g.149503320_149503321del
533delTT
-
IDS_000059
-
PubMed: Filocamo 2001
-
-
Germline
-
-
+Alw26I
-
-
Johan den Dunnen
+/.
1
3
c.411del
r.(?)
p.(His138Thrfs*75)
-
pathogenic
g.148584851del
g.149503321del
411delT
-
IDS_000209
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/.
1
3i
c.418+1G>A
1 more item
p.?
-
pathogenic
g.148584841C>T
g.149503311C>T
-
-
IDS_000150
RNA level 0.8 of normal; low % inclusion intronin exon-3a detected in controls
PubMed: Alves 2006
-
-
Germline
-
-
-
-
-
Yu Sun
-/.
2
-
c.418+12T>C
r.(=)
p.(=)
-
benign
g.148584830A>G
g.149503300A>G
IDS(NM_000202.7):c.418+12T>C, IDS(NM_000202.8):c.418+12T>C
-
IDS_000242
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
-?/.
2
3i
c.419-132dup
r.(?)
p.(=)
-
likely benign
g.148582700dup
g.149501168dup
419-132_419-131insC
-
IDS_000175
-
-
-
-
Germline
-
-
-
-
-
Yu Sun
-/., -?/.
2
-
c.419-6del
r.(=)
p.(=)
-
benign, likely benign
g.148582584del
g.149501053del
IDS(NM_000202.7):c.419-6delT, IDS(NM_000202.8):c.419-6delT
-
IDS_000228
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
-/.
2
-
c.419-6dup
r.(=)
p.(=)
-
benign
g.148582584dup
g.149501053dup
IDS(NM_000202.7):c.419-6_419-5insT, IDS(NM_000202.8):c.419-6_419-5insT
-
IDS_000241
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
-?/.
1
-
c.419-6T>C
r.(=)
p.(=)
-
likely benign
g.148582574A>G
-
IDS(NM_000202.7):c.419-6T>C
-
IDS_000263
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
3i
c.419-1G>A
r.spl
p.?
-
likely pathogenic
g.148582569C>T
g.149501038C>T
-
-
IDS_000178
-
-
-
-
Germline
?
-
-
-
-
Isabella Rau
+/.
1
3i
c.419-?_505+?del
r.419_505del
p.?
-
pathogenic
g.148582482_148582568del
-
del ex4
-
IDS_000060
1 more item
PubMed: Kim 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3i
c.419-?_507+?del
r.del
p.?
-
pathogenic
g.148582480_148582568del
-
del ex4
-
IDS_000070
1 more item
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3i
c.419-?_1006+?del
r.419_1006del
p.?
-
pathogenic
g.148571845_148582568del
-
del ex4-7
-
IDS_000015
1 more item
PubMed: Filocamo 2001
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3i
c.419-?_?del
r.del
p.del
-
pathogenic
g.?
-
-
-
IDS_000069
RNA contains ex1-3, no downstream amplification
PubMed: Popowska 1995
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
4
c.425C>A
r.(?)
p.(Ser142Tyr)
-
pathogenic
g.148582562G>T
g.149501031G>T
-
-
IDS_000208
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/., +?/., -/., -?/., ?/.
17
4
c.438C>T
r.(?), r.438c>u
p.(=), p.(Thr146=), p.=
-
benign, likely benign, likely pathogenic, pathogenic, VUS
g.148582549G>A
g.149501018G>A
562C>T, IDS(NM_000202.7):c.438C>T (p.T146=), IDS(NM_000202.8):c.438C>T (p.T146=), T146T
-
IDS_000003
recurrent variant, VKGL data sharing initiative Nederland
{PMID:Aronovich 1993},
PubMed: Bunge
,
OMIM:var0009
,
PubMed: Filocamo 2001
,
PubMed: Flomen 1992
,
rs1141608
CLASSIFICATION record, Germline, Not applicable
-
0.00-0.70, 62/208
-MspI
-
-
Johan den Dunnen
,
Lucy Raymond
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_VUmc
,
VKGL-NL_AMC
+/.
2
4
c.442G>A
r.(?)
p.(Asp148Asn)
-
pathogenic
g.148582545C>T
g.149501014C>T
GAT>AAT (D148N)
-
IDS_000078
RNA level 1.3 of normal
PubMed: Alves 2006
,
PubMed: Froisart 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Yu Sun
+/.
1
4
c.453T>G
r.(?)
p.Tyr151*
-
pathogenic
g.148582534A>C
g.149501003A>C
-
-
IDS_000104
-
PubMed: Isogai 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
4
c.454_460del
r.(?)
p.Ser152Leufs*59
-
pathogenic
g.148582528_148582534del
g.149500997_149501003del
454del7
-
IDS_000110
-
PubMed: Isogai 1998
-
-
Germline
-
-
AluI-
-
-
Johan den Dunnen
+/.
1
4
c.455G>T
r.(?)
p.(Ser152Ile)
-
pathogenic
g.148582532C>A
g.149501001C>A
-
-
IDS_000207
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/.
1
4
c.458G>T
r.(?)
p.(Trp153Leu)
-
pathogenic
g.148582529C>A
g.149500998C>A
TGG>TTG (W153L)
-
IDS_000079
-
PubMed: Froisart 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
4
c.463_464delinsCCGTATAGCTGG
r.(?)
p.(Phe155Profs*12)
-
pathogenic
g.148582523_148582524delinsCCAGCTATACGG
g.149500992_149500993delinsCCAGCTATACGG
-
-
IDS_000174
1 more item
PubMed: Alcántara-Ortigoza 2016
,
Journal: Alcántara-Ortigoza 2016
-
-
Germline
-
-
AvaII
-
-
Miguel Angel Alcántara-Ortigoza
+/.
1
4
c.469C>T
r.(?)
p.(Pro157Ser)
-
pathogenic
g.148582518G>A
g.149500987G>A
-
-
IDS_000206
-
-
-
-
Germline
-
-
-
-
-
Paula Rozenfeld
+/.
1
4
c.479C>G
r.479c>g
p.Pro159Arg
-
pathogenic
g.148582508G>C
g.149500977G>C
603C>G
-
IDS_000061
-
PubMed: Flomen 1992
,
OMIM:var0004
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
4
c.500del
r.(?)
p.(Asn167ThrfsTer46)
-
pathogenic
g.148582490del
g.149500959del
-
-
IDS_000135
-
PubMed: Kim 2003
,
PubMed: Vafiadaki 1998
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
4i
c.506-?_879+?del
r.506_879del
p.?
-
pathogenic
g.148577877_148582481del
-
del ex5-6
-
IDS_000062
1 more item
PubMed: Kim 2003
-
-
Germline
-
-
-
-
-
Johan den Dunnen
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