Global Variome shared LOVD
IL1RAPL1 (interleukin 1 receptor accessory protein-...)
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Unique variants in the IL1RAPL1 gene
The variants shown are described using the NM_014271.3 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)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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69 entries on 1 page. Showing entries 1 - 69.
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Legend
How to query
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
1
c.-302dup
r.(?)
p.(=)
-
likely benign
g.28605887dup
g.28587770dup
-
-
IL1RAPL1_000005
-
-
-
-
Germline
?
-
-
-
-
Yu Sun
-?/.
2
1i
c.-25+199_-25+200del
r.(=)
p.(=)
-
likely benign
g.28606363_28606364del
g.28588246_28588247del
-
-
IL1RAPL1_000004
-
-
-
-
Germline
?
-
-
-
-
Yu Sun
+/.
1
1i_6i
c.(-26+1_-25+77755)_(778+66744_779-1)del
r.?
p.0?
-
pathogenic (recessive)
g.(28606164_28683919)_(29753365_29935580)del
g.(28588047_28665802)_(29735248_29917463)del
hg19 28,683,919-29,753,365del
-
IL1RAPL1_000048
hg19 28,683,919-29,753,365del
PubMed: Mikhail 2011
,
Journal: Mikhail 2011
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
1i_11_
c.(-24-1_-24-35903)_(*1_?)del
r.0?
p.0
-
pathogenic
g.(28606165_28771534)_(30746860_31140035)del
-
-
-
IL1RAPL1_000022
deletion (1i_DXS1147)_(GK_DMD)del
PubMed: Carrie 1999
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
-/., -?/.
2
-
c.-19G>A
r.(?)
p.(=)
-
benign, likely benign
g.28807442G>A
g.28789325G>A
IL1RAPL1(NM_014271.4):c.-19G>A
-
IL1RAPL1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
+/+, +/.
5
2i_11_, _1_11, _1_11_
c.(?_-1)_(*1_?)del
r.0, r.?
p.0, p.?
-
pathogenic, pathogenic (recessive)
g.(25007364_26471345)_(30082645_30128228)del, g.(25034000_28807460)_(31645980_31676106)del,
3 more items
g.(?_31119228)_(33339609_?)del
-
-
DMD_040078, DMD_050080, IL1RAPL1_000020, IL1RAPL1_000021, IL1RAPL1_000023
deletion extends from (2i_DXS1218)_(AHC_GK), deletion extends from (DXS1202_DXS28)_(AHC_GK),
3 more items
PubMed: Carrie 1999
,
PubMed: Zhang 2004
,
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Germline, Germline/De novo (untested), Unknown
yes
-
-
-
-
Johan den Dunnen
+/.
1
5i_11_
c.(778+1_779-1)_*80[0]
r.?
p.?
-
pathogenic (recessive)
g.(29686622_29935580)_(31366752_31462597)del
g.(29668505_29917463)_(31348635_31444480)del
-
-
DMD_066680
deletion involving GK and NR0B1 and part of IL1RAPL1 and DMD
PubMed: Korkut 2016
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.(82+1_82+200633)_*80[0]
r.?
p.?
-
pathogenic (recessive)
g.(28900000_29008175)_(31496701_31600000)del
-
hg19 29008175–31496701del
-
DMD_066684
2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD
-
-
-
Germline/De novo (untested)
-
-
-
-
X-inactivation CpG island 5' CAG repeat AR gene muscle 50:50, blood 63:37
Johan den Dunnen
+/+, +/.
10
_1_11, _1_11_
c.0
r.0
p.0
-
pathogenic (recessive)
g.(25000000_28500000)_(33357726_37000000)del, g.(25040000_28600000)_(31241239_31279071)del,
5 more items
g.(28180000_28480000)_(31968515_32216915)del, g.(?_31119228)_(31875374_31929595)del
hg19 25878399_31987991del
-
DMD_003415, DMD_003416, DMD_003417, DMD_040079, DMD_054880, DMD_066681, DMD_066683
3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD,
5 more items
PubMed: Heide 2015
,
PubMed: Korkut 2016
,
PubMed: Piko 2009
,
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
De novo, Germline, Germline/De novo (untested), Unknown
-, yes
-
-
-
X-inactivation CpG island 5' CAG repeat AR gene 59%:41%
Johan den Dunnen
+/.
1
8i_
c.1058-10549_*80{0}
r.?
p.?
-
pathogenic (recessive)
g.29949219_31144301del
g.29931102_31126184del
-
-
DMD_000533
breakpoint in intron 8 IL1RAPL1 gene (antisense strand), RNA contains new 3' sequence replacing ex79
PubMed: Jin 2000
,
PubMed: Greener 2002
,
GenBank AF181286.1
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.12G>A
r.(?)
p.(Pro4=)
-
likely benign
g.28807472G>A
-
IL1RAPL1(NM_014271.3):c.12G>A (p.P4=)
-
IL1RAPL1_000063
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
2
2
c.36C>T
r.(?)
p.(=), p.(Tyr12=)
-
likely benign
g.28807496C>T
g.28789379C>T
IL1RAPL1(NM_014271.3):c.36C>T (p.Y12=), Y12Y
-
IL1RAPL1_000002
found once, nonrecurrent change, VKGL data sharing initiative Nederland
PubMed: Tarpey 2009
-
-
CLASSIFICATION record, Germline
yes
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
?/.
1
-
c.59A>G
r.(?)
p.(Lys20Arg)
-
VUS
g.28807519A>G
-
IL1RAPL1(NM_014271.4):c.59A>G (p.K20R)
-
IL1RAPL1_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
1
-
c.61G>T
r.(?)
p.(Val21Phe)
-
VUS
g.28807521G>T
g.28789404G>T
IL1RAPL1(NM_014271.3):c.61G>T (p.V21F)
-
IL1RAPL1_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
2i_5i
c.(81+1_82-1)_(703+1_704-1)del
r.del
p.?
-
pathogenic
g.(28807540_29417426)del
-
del ex3-5
-
IL1RAPL1_000010
1 more item
PubMed: Carrie 1999
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
1
2i_6i
c.(81+1_82-1)_(778+1_779-1)del
r.del
p.?
-
pathogenic
g.(28807542_28807541)_(29686622_29935580)del
-
del ex2-5
-
IL1RAPL1_000027
mapped by linkage
PubMed: Nawara 2008
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
-?/.
1
2i
c.82+206A>G
r.(=)
p.(=)
-
likely benign
g.28807748A>G
g.28789631A>G
-
-
IL1RAPL1_000012
-
PubMed: Almomani 2011
-
rs6526807
Germline
?
-
-
-
-
Gerard C.P. Schaafsma
-?/.
1
2i
c.82+227T>C
r.(=)
p.(=)
-
likely benign
g.28807769T>C
g.28789652T>C
-
-
IL1RAPL1_000011
-
PubMed: Almomani 2011
-
rs12690144
Germline
?
-
-
-
-
Gerard C.P. Schaafsma
./.
1
-
c.82+152937_362+45dup
r.?
p.?
-
pathogenic
g.28960479_29301379dup
-
IL1RAPL1
-
IL1RAPL1_000043
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
1
2i_7i
c.(83-106390_83-75556)_(911+80_911+680)del
r.83_911del
p.Ala28Glufs
-
pathogenic
g.(29194665_29225499)_(29935793_29936393)del
-
hg18 g.(29104586_29135420)_(29838753_29856482)del
-
IL1RAPL1_000019
730 kb deletion
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
3
c.91T>C
r.(?)
p.(Cys31Arg), p.Cys31Arg
-
NA, pathogenic
g.29301063T>C
g.29282946T>C
-
-
IL1RAPL1_000003
1 more item
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
,
1 more item
-
-
Germline, In vitro (cloned)
-, yes
1/208 families
-
-
-
Johan den Dunnen
,
Pierre Billuart
?/.
1
-
c.146T>C
r.(?)
p.(Val49Ala)
-
VUS
g.29301118T>C
-
IL1RAPL1(NM_014271.4):c.146T>C (p.V49A)
-
IL1RAPL1_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
+?/.
1
-
c.148C>T
r.(?)
p.(Arg50*)
-
likely pathogenic
g.29301120C>T
g.29283003C>T
-
-
IL1RAPL1_000056
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.163C>T
r.(?)
p.(Leu55Phe)
-
VUS
g.29301135C>T
g.29283018C>T
IL1RAPL1(NM_014271.3):c.163C>T (p.L55F)
-
IL1RAPL1_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
3
c.194C>A
r.(?)
p.(Ser65Tyr)
-
VUS
g.29301166C>A
g.29283049C>A
-
-
IL1RAPL1_000061
-
PubMed: Ganapathy 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.231C>T
r.(?)
p.(Tyr77=)
-
likely benign
g.29301203C>T
g.29283086C>T
IL1RAPL1(NM_014271.3):c.231C>T (p.Y77=)
-
IL1RAPL1_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.233A>G
r.(?)
p.(Lys78Arg)
-
VUS
g.29301205A>G
g.29283088A>G
IL1RAPL1(NM_014271.3):c.233A>G (p.K78R)
-
IL1RAPL1_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.349G>A
r.(?)
p.(Ala117Thr)
-
likely benign
g.29301321G>A
g.29283204G>A
-
-
IL1RAPL1_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.520A>G
r.(?)
p.(Thr174Ala)
-
likely benign
g.29414532A>G
g.29396415A>G
IL1RAPL1(NM_014271.3):c.520A>G (p.T174A)
-
IL1RAPL1_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
-
c.606dup
r.(?)
p.(Ile203Tyrfs*8)
-
likely pathogenic
g.29417328dup
g.29399211dup
-
-
IL1RAPL1_000057
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.641A>T
r.(?)
p.(Tyr214Phe)
-
VUS
g.29417363A>T
g.29399246A>T
IL1RAPL1(NM_014271.3):c.641A>T (p.Y214F)
-
IL1RAPL1_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
2
-
c.651A>C
r.(?)
p.(Glu217Asp)
-
VUS
g.29417373A>C
g.29399256A>C
IL1RAPL1(NM_014271.3):c.651A>C (p.E217D)
-
IL1RAPL1_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
-?/.
2
5i
c.703+85C>A
r.(=)
p.(=)
-
likely benign
g.29417510C>A
g.29399393C>A
-
-
IL1RAPL1_000006
-
-
-
-
Germline
?
-
-
-
-
Yu Sun
+/.
1
5i_6i
c.703+99897_778+59920del
r.(del)
p.(Ala235_Leu259del)
-
pathogenic
g.29517322_29746541del
g.29499205_29728424del
-
-
IL1RAPL1_000008
-
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
Germline
yes
-
-
-
-
Pierre Billuart
+/.
1
5i_6i
c.704-2473_778+5192del
r.704_778del
p.Ala235_Leu259del
-
pathogenic
g.29684074_29691813del
g.29665957_29673696del
-
-
IL1RAPL1_000009
in female patient random X-inactivation (variant APOO gene)
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
Germline
yes
-
-
-
-
Pierre Billuart
+/.
1
6
c.704_778del
r.704_778del
p.Ala235_Leu259del
-
NA
g.29686547_29686621del
g.29668430_29668504del
-
-
IL1RAPL1_000014
1 more item
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
In vitro (cloned)
no
-
-
-
-
Johan den Dunnen
+/.
1
6i_11_
c.(778+1_779-1)_(*1_?)del
r.?
p.?
-
pathogenic
g.(29686622_29935580)_(30327481_30671654)del
-
-
-
IL1RAPL1_000024
deletion extends from (6i_DXS7187)_(AHC_GK)
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
./.
1
_1_6i
c.(-25+1_779-1)_?del
r.0
p.0
-
pathogenic (recessive)
g.(28606165_29935580)_(33229674_?)del
-
-
-
DMD_040080
deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.783C>G
r.(?)
p.(Asp261Glu)
-
likely benign
g.29935585C>G
-
IL1RAPL1(NM_014271.3):c.783C>G (p.D261E)
-
IL1RAPL1_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.784T>G
r.(?)
p.(Ser262Ala)
-
likely benign
g.29935586T>G
g.29917469T>G
IL1RAPL1(NM_014271.3):c.784T>G (p.S262A)
-
IL1RAPL1_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.793C>G
r.(?)
p.(Leu265Val)
-
VUS
g.29935595C>G
g.29917478C>G
IL1RAPL1(NM_014271.3):c.793C>G (p.L265V)
-
IL1RAPL1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
-
c.889C>T
r.(?)
p.(Arg297*)
-
likely pathogenic
g.29935691C>T
g.29917574C>T
-
-
IL1RAPL1_000058
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
-
c.894_903del
r.(?)
p.(Trp299Thrfs*18)
-
pathogenic (recessive)
g.29935696_29935705del
g.29917579_29917588del
-
-
IL1RAPL1_000053
-
PubMed: Redin 2014
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.1024C>T
r.(?)
p.(Arg342Cys)
-
likely benign
g.29938178C>T
-
-
-
IL1RAPL1_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.1028G>A
r.(?)
p.(Arg343Gln)
-
VUS
g.29938182G>A
g.29920065G>A
-
-
IL1RAPL1_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.1033G>A
r.(?)
p.(Ala345Thr)
-
VUS
g.29938187G>A
-
IL1RAPL1(NM_014271.4):c.1033G>A (p.A345T)
-
IL1RAPL1_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
1
-
c.1039G>A
r.(?)
p.(Val347Ile)
ACMG
likely benign
g.29938193G>A
-
-
-
IL1RAPL1_000067
ACMG BS2, BP4
PubMed: Hiatt 2023
,
Journal: Hiatt 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1039G>T
r.(?)
p.(Val347Phe)
-
VUS
g.29938193G>T
g.29920076G>T
IL1RAPL1(NM_014271.3):c.1039G>T (p.V347F)
-
IL1RAPL1_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
-
c.1054C>T
r.(?)
p.(Arg352Ter)
-
pathogenic
g.29938208C>T
g.29920091C>T
-
-
IL1RAPL1_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
2
9
c.1100_1106del
r.(?)
p.(Ile367Serfs*7), p.Ile367Serfs*7
-
NA, pathogenic
g.29959810_29959816del
g.29941693_29941699del
1730delTACTCTT
-
IL1RAPL1_000015
1 more item
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
De novo, In vitro (cloned)
yes
1/142 cases
-
-
-
Johan den Dunnen
-?/.
1
9
c.1136A>G
r.(?)
p.(Lys379Arg)
-
likely benign
g.29959846A>G
g.29941729A>G
K379R
-
IL1RAPL1_000016
not in 190 controls
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
Germline
-
1/142 cases
-
-
-
Johan den Dunnen
+/.
1
11
c.1377C>A
r.1377c>a
p.Tyr459*
-
pathogenic
g.29973223C>A
g.29955106C>A
-
-
IL1RAPL1_000007
RNA expression lymphoblastoid cell line strongly reduced
PubMed: Carrie 1999
,
OMIM:var0001
-
-
Unknown
yes
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1421T>G
r.(?)
p.(Ile474Ser)
-
VUS
g.29973267T>G
g.29955150T>G
IL1RAPL1(NM_014271.3):c.1421T>G (p.I474S)
-
IL1RAPL1_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.1443C>A
r.(?)
p.(Tyr481*)
-
VUS
g.29973289C>A
-
IL1RAPL1(NM_014271.3):c.1443C>A (p.Y481*)
-
IL1RAPL1_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
11
c.1460G>A
r.(?)
p.(Trp487*)
-
pathogenic
g.29973306G>A
g.29955189G>A
-
-
IL1RAPL1_000025
-
PubMed: Tabolacci 2006
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/., +?/.
2
-
c.1489C>T
r.(1489c>u), r.(?)
p.(Arg497*)
ACMG
likely pathogenic, pathogenic
g.29973335C>T
g.29955218C>T
-
-
IL1RAPL1_000042
ACMG grading: PVS1,PM2
PubMed: Du 2018
-
-
De novo, Germline
-
-
-
-
-
Andreas Laner
,
Fei Li
+/.
1
11
c.1510G>T
r.(?)
p.(Glu504*)
-
pathogenic
g.29973356G>T
g.29955239G>T
1510C>T
-
IL1RAPL1_000026
-
PubMed: de Brouwer 2007
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
-?/.
2
11
c.1605G>T
r.(?)
p.(=), p.(Thr535=)
-
likely benign
g.29973451G>T
g.29955334G>T
IL1RAPL1(NM_014271.3):c.1605G>T (p.T535=), T535T
-
IL1RAPL1_000001
found once, nonrecurrent change, VKGL data sharing initiative Nederland
PubMed: Tarpey 2009
-
-
CLASSIFICATION record, Germline
yes
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Rotterdam
?/.
1
-
c.1700T>C
r.(?)
p.(Ile567Thr)
-
VUS
g.29973546T>C
-
-
-
IL1RAPL1_000055
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.1722T>A
r.(?)
p.(Asp574Glu)
-
VUS
g.29973568T>A
-
(p.Asp574Glu)
-
IL1RAPL1_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
2
11
c.1854A>Y
r.(?)
p.(Gln618His)
-
likely benign
g.29973700A>Y
g.29955583A>Y
Q618H
-
IL1RAPL1_000017
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
Germline
-
1/142 cases, 1/190 controls
-
-
-
Johan den Dunnen
-?/., ?/.
3
-
c.1894G>A
r.(?)
p.(Val632Ile)
-
likely benign, VUS
g.29973740G>A
g.29955623G>A
IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I)
-
IL1RAPL1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
-?/.
1
11
c.1909A>T
r.(?)
p.(Thr637Ser)
-
likely benign
g.29973755A>T
g.29955638A>T
T637S
-
IL1RAPL1_000018
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
Germline
-
1/190 controls
-
-
-
Johan den Dunnen
?/.
1
-
c.1910C>G
r.(?)
p.(Thr637Ser)
-
VUS
g.29973756C>G
-
IL1RAPL1(NM_014271.3):c.1910C>G (p.T637S)
-
IL1RAPL1_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
2
-
c.1918C>G
r.(?)
p.(Leu640Val)
-
VUS
g.29973764C>G
g.29955647C>G
IL1RAPL1(NM_014271.3):c.1918C>G (p.L640V, p.(Leu640Val))
-
IL1RAPL1_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
?/.
1
-
c.1925C>G
r.(?)
p.(Ser642Cys)
-
VUS
g.29973771C>G
g.29955654C>G
IL1RAPL1(NM_014271.3):c.1925C>G (p.(Ser642Cys))
-
IL1RAPL1_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-/., -?/.
3
11
c.1927A>G
r.(?)
p.(Ile643Val), p.Ile643Val
-
likely benign, NA
g.29973773A>G
g.29955656A>G
I643V
-
IL1RAPL1_000013
expression cloning functional assays give normal results, variant not in affected brother
PubMed: Piton 2008
,
Journal: Piton 2008
,
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
Germline, In vitro (cloned), Unknown
-, no
1/190 controls
-
-
-
Johan den Dunnen
-?/.
1
-
c.2049G>A
r.(?)
p.(Pro683=)
-
likely benign
g.29973895G>A
g.29955778G>A
IL1RAPL1(NM_014271.3):c.2049G>A (p.P683=)
-
IL1RAPL1_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.2067C>G
r.(?)
p.(Thr689=)
-
likely benign
g.29973913C>G
g.29955796C>G
IL1RAPL1(NM_014271.3):c.2067C>G (p.T689=)
-
IL1RAPL1_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
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