Global Variome shared LOVD
IL1RAPL1 (interleukin 1 receptor accessory protein-...)
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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.
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
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
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%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype 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.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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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'
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97 entries on 1 page. Showing entries 1 - 97.
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Legend
How to query
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
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
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-?/.
1
c.-302dup
r.(?)
p.(=)
Unknown
-
likely benign
g.28605887dup
g.28587770dup
-
-
IL1RAPL1_000005
-
-
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
1i
c.-25+199_-25+200del
r.(=)
p.(=)
Unknown
-
likely benign
g.28606363_28606364del
g.28588246_28588247del
-
-
IL1RAPL1_000004
-
-
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
1i
c.-25+199_-25+200del
r.(=)
p.(=)
Unknown
-
likely benign
g.28606363_28606364del
g.28588246_28588247del
-
-
IL1RAPL1_000004
-
-
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+/.
1i_6i
c.(-26+1_-25+77755)_(778+66744_779-1)del
r.?
p.0?
Maternal (confirmed)
-
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
-
-
-
-
-
DNA
arrayCGH, FISH
-
-
?
Pat8
PubMed: Mikhail 2011
,
Journal: Mikhail 2011
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1i_11_
c.(-24-1_-24-35903)_(*1_?)del
r.0?
p.0
Unknown
-
pathogenic
g.(28606165_28771534)_(30746860_31140035)del
-
-
-
IL1RAPL1_000022
deletion (1i_DXS1147)_(GK_DMD)del
PubMed: Carrie 1999
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
AHC, GKD, ID
-
PubMed: Carrie 1999
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.-19G>A
r.(?)
p.(=)
Unknown
-
benign
g.28807442G>A
g.28789325G>A
IL1RAPL1(NM_014271.4):c.-19G>A
-
IL1RAPL1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-19G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.28807442G>A
g.28789325G>A
IL1RAPL1(NM_014271.4):c.-19G>A
-
IL1RAPL1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_11_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic
g.(25007364_26471345)_(30082645_30128228)del
-
-
-
IL1RAPL1_000020
deletion extends from (DXS6764_DXS1202)_(DXS1088_DXS704)
PubMed: Carrie 1999
-
-
Germline
-
-
-
-
-
DNA, RNA
DGGE, SEQ
-
-
MRX;IDX
-
PubMed: Carrie 1999
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_11
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic
g.(28315338_28315338)_(30327481_30671654)del
-
-
-
IL1RAPL1_000021
deletion extends from (DXS1202_DXS28)_(AHC_GK)
PubMed: Carrie 1999
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
AHC, MRT
-
PubMed: Carrie 1999
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_11_
c.(?_-1)_(*1_?)del
r.?
p.?
Unknown
-
pathogenic
g.(28807543_29155309)_(30327481_30671654)del
-
-
-
IL1RAPL1_000023
deletion extends from (2i_DXS1218)_(AHC_GK)
PubMed: Carrie 1999
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
AHC, ID
-
PubMed: Carrie 1999
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_11_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_31137345)_(33357726_?)del
g.(?_31119228)_(33339609_?)del
-
-
DMD_050080
deletion incl. IL1RAPL1, NR0B1, GK
PubMed: Zhang 2004
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_11_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25034000_28807460)_(31645980_31676106)del
-
-
-
DMD_040078
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
5i_11_
c.(778+1_779-1)_*80[0]
r.?
p.?
Maternal (inferred)
-
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
-
-
-
-
-
DNA
arrayCGH
-
-
?
Case1
PubMed: Korkut 2016
-
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(82+1_82+200633)_*80[0]
r.?
p.?
Unknown
-
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
DNA
arrayCNV
-
Illumina CytoSNP12 microarray
ID
Pat2
PubMed: Heide 2015
-
F
-
France
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_11_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25040000_28600000)_(33229674_?)del
-
-
-
DMD_040079
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_11
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25040000_28600000)_(33229674_?)del
-
-
-
DMD_040079
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_11_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_25020000)_(32235181_32305645)del
-
-
-
DMD_003417
deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_11_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_31137345)_(31893491_31947712)del
g.(?_31119228)_(31875374_31929595)del
-
-
DMD_054880
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_11_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25040000_28600000)_(31241239_31279071)del
-
-
-
DMD_003416
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_11_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25040000_28600000)_(31241239_31279071)del
-
-
-
DMD_003416
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
-
c.0
r.0
p.0
Parent #1
-
pathogenic (recessive)
g.(25000000_28500000)_(33357726_37000000)del
-
-
-
DMD_003415
ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted
PubMed: Piko 2009
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
MRX;IDX
-
PubMed: Piko 2009
analysis 135 BMD/DMD cases
?
-
Hungary
-
-
-
-
-
1
Johan den Dunnen
+/+
-
c.0
r.0
p.0
Parent #1
-
pathogenic (recessive)
g.(25000000_28500000)_(33357726_37000000)del
-
-
-
DMD_003415
ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted
PubMed: Piko 2009
-
-
Germline
yes
-
-
-
-
DNA
MLPA
-
-
AHC, GKD, MRX;IDX
-
PubMed: Piko 2009
analysis 135 BMD/DMD cases
?
-
Hungary
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(28200000_28500000)_(31986632_32235032)del
g.(28180000_28480000)_(31968515_32216915)del
-
-
DMD_066681
3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD
PubMed: Korkut 2016
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
arrayCGH
-
-
?
case2
PubMed: Korkut 2016
-
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25400000_25878399)_(31987991_32000000)del
-
hg19 25878399_31987991del
-
DMD_066683
6.09 Mb deletion including IL1RAPL1, DAX1, GK and last 37 exons of DMD
PubMed: Heide 2015
-
-
De novo
-
-
-
-
X-inactivation CpG island 5' CAG repeat AR gene 59%:41%
DNA
arrayCNV
-
Illumina CytoSNP12 microarray
ID
Pat1
PubMed: Heide 2015
-
F
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
8i_
c.1058-10549_*80{0}
r.?
p.?
Parent #1
-
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
-
-
-
-
DNA
PCR, RT-PCR, SEQ
-
-
AHC, DMD, GKD
10757639-Fam4482
PubMed: Jin 2000
,
PubMed: Greener 2002
2-generation family, 3 affected brothers (12y, 14y, 17y)
M
no
United Kingdom (Great Britain)
-
-
-
-
-
3
Johan den Dunnen
-?/.
-
c.12G>A
r.(?)
p.(Pro4=)
Unknown
-
likely benign
g.28807472G>A
-
IL1RAPL1(NM_014271.3):c.12G>A (p.P4=)
-
IL1RAPL1_000063
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
2
c.36C>T
r.(?)
p.(=)
Maternal (inferred)
-
likely benign
g.28807496C>T
g.28789379C>T
Y12Y
-
IL1RAPL1_000002
found once, nonrecurrent change
PubMed: Tarpey 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377159-Pat?
PubMed: Tarpey 2009
-
M
?
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
-?/.
-
c.36C>T
r.(?)
p.(Tyr12=)
Unknown
-
likely benign
g.28807496C>T
g.28789379C>T
IL1RAPL1(NM_014271.3):c.36C>T (p.Y12=)
-
IL1RAPL1_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.59A>G
r.(?)
p.(Lys20Arg)
Unknown
-
VUS
g.28807519A>G
-
IL1RAPL1(NM_014271.4):c.59A>G (p.K20R)
-
IL1RAPL1_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.61G>T
r.(?)
p.(Val21Phe)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2i_5i
c.(81+1_82-1)_(703+1_704-1)del
r.del
p.?
Maternal (confirmed)
-
pathogenic
g.(28807540_29417426)del
-
del ex3-5
-
IL1RAPL1_000010
deletion incl. DXS1218 Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message.
PubMed: Carrie 1999
-
-
Germline
yes
-
-
-
-
DNA
PCR
-
-
MRX;IDX
-
PubMed: Carrie 1999
-
M
no
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_6i
c.(81+1_82-1)_(778+1_779-1)del
r.del
p.?
Maternal (inferred)
-
pathogenic
g.(28807542_28807541)_(29686622_29935580)del
-
del ex2-5
-
IL1RAPL1_000027
mapped by linkage
PubMed: Nawara 2008
-
-
Germline
yes
-
-
-
-
DNA
FISH, PCR
-
-
MRX;IDX
-
PubMed: Nawara 2008
4-generation family, 4 affected males, 4 carrier females
M
-
France
-
-
-
-
-
4
Johan den Dunnen
-?/.
2i
c.82+206A>G
r.(=)
p.(=)
Both (homozygous)
-
likely benign
g.28807748A>G
g.28789631A>G
-
-
IL1RAPL1_000012
-
PubMed: Almomani 2011
-
rs6526807
Germline
?
-
-
-
-
DNA
SEQ-NG
-
-
autism, BMD/DMD, TSC
-
PubMed: Almomani 2011
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
-?/.
2i
c.82+227T>C
r.(=)
p.(=)
Both (homozygous)
-
likely benign
g.28807769T>C
g.28789652T>C
-
-
IL1RAPL1_000011
-
PubMed: Almomani 2011
-
rs12690144
Germline
?
-
-
-
-
DNA
SEQ-NG
-
-
autism, BMD/DMD, TSC
-
PubMed: Almomani 2011
-
-
-
-
-
-
-
-
-
1
Global Variome, with Curator vacancy
./.
-
c.82+152937_362+45dup
r.?
p.?
Maternal (confirmed)
-
pathogenic
g.28960479_29301379dup
-
IL1RAPL1
-
IL1RAPL1_000043
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamN14
PubMed: Hu 2016
family, 3 affected, 1 unaffected heterozygous carrier female
M
-
-
-
-
-
-
-
3
Johan den Dunnen
+/.
2i_7i
c.(83-106390_83-75556)_(911+80_911+680)del
r.83_911del
p.Ala28Glufs
Maternal (confirmed)
-
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
-
-
-
-
-
DNA
arrayCGH
-
-
ID
-
PubMed: Piton 2008
,
Journal: Piton 2008
2-generation family, 3 affected brothers, unaffected carrier mother
M
-
-
-
-
-
-
-
3
Johan den Dunnen
+/.
3
c.91T>C
r.(?)
p.(Cys31Arg)
Maternal (confirmed)
-
pathogenic
g.29301063T>C
g.29282946T>C
-
-
IL1RAPL1_000003
-
PubMed: Tarpey 2009
;
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
Germline
yes
1/208 families
-
-
-
DNA
SEQ, SEQ-NG
-
-
ID
-
PubMed: Tarpey 2009
;
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
2-generation family, 2 affected males, carrier mother
M
no
(France)
-
-
-
-
-
2
Pierre Billuart
+/.
3
c.91T>C
r.(?)
p.Cys31Arg
Unknown
-
NA
g.29301063T>C
g.29282946T>C
-
-
IL1RAPL1_000003
expression cloning shows failure to induce pre- and post-synaptic differentiation; HEK293 cells reduced interaction IL1RAPL1/PTPdelta; no effect on cellular signaling (still activating JNK pathway)
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.146T>C
r.(?)
p.(Val49Ala)
Unknown
-
VUS
g.29301118T>C
-
IL1RAPL1(NM_014271.4):c.146T>C (p.V49A)
-
IL1RAPL1_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.148C>T
r.(?)
p.(Arg50*)
Unknown
-
likely pathogenic
g.29301120C>T
g.29283003C>T
-
-
IL1RAPL1_000056
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
565 gene panel
ID
UK10K_FINDWGA5410971
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.163C>T
r.(?)
p.(Leu55Phe)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
c.194C>A
r.(?)
p.(Ser65Tyr)
Unknown
-
VUS
g.29301166C>A
g.29283049C>A
-
-
IL1RAPL1_000061
-
PubMed: Ganapathy 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-151
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.231C>T
r.(?)
p.(Tyr77=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.233A>G
r.(?)
p.(Lys78Arg)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.349G>A
r.(?)
p.(Ala117Thr)
Unknown
-
likely benign
g.29301321G>A
g.29283204G>A
-
-
IL1RAPL1_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.520A>G
r.(?)
p.(Thr174Ala)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.606dup
r.(?)
p.(Ile203Tyrfs*8)
Unknown
-
likely pathogenic
g.29417328dup
g.29399211dup
-
-
IL1RAPL1_000057
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
565 gene panel
ID
UK10K_FINDWGA5411107
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.641A>T
r.(?)
p.(Tyr214Phe)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.651A>C
r.(?)
p.(Glu217Asp)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.651A>C
r.(?)
p.(Glu217Asp)
Unknown
-
VUS
g.29417373A>C
-
IL1RAPL1(NM_014271.3):c.651A>C (p.E217D)
-
IL1RAPL1_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
5i
c.703+85C>A
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.29417510C>A
g.29399393C>A
-
-
IL1RAPL1_000006
-
-
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
5i
c.703+85C>A
r.(=)
p.(=)
Maternal (inferred)
-
likely benign
g.29417510C>A
g.29399393C>A
-
-
IL1RAPL1_000006
-
-
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+/.
5i_6i
c.703+99897_778+59920del
r.(del)
p.(Ala235_Leu259del)
Maternal (confirmed)
-
pathogenic
g.29517322_29746541del
g.29499205_29728424del
-
-
IL1RAPL1_000008
-
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
Germline
yes
-
-
-
-
DNA
arraySNP
-
-
ID
-
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
2-generation family, affected male, carrier mother/sister
M
no
-
-
-
-
-
-
1
Pierre Billuart
+/.
5i_6i
c.704-2473_778+5192del
r.704_778del
p.Ala235_Leu259del
Maternal (confirmed)
-
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
-
-
-
-
DNA
PCRlr
-
-
ID
-
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
3-generation family, 3 affecteds (1F, 2M), unaffected carrier (grand)mother
M
no
-
-
-
-
-
-
3
Pierre Billuart
+/.
6
c.704_778del
r.704_778del
p.Ala235_Leu259del
Unknown
-
NA
g.29686547_29686621del
g.29668430_29668504del
-
-
IL1RAPL1_000014
expression cloning shows IL1RAPL1 instability and mislocalization within dendrites; failure to induce pre- and post-synaptic differentiation; HEK293 cells reduced interaction IL1RAPL1/PTPdelta; no effect on cellular signaling (still activating JNK pathway)
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
In vitro (cloned)
no
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
6i_11_
c.(778+1_779-1)_(*1_?)del
r.?
p.?
Unknown
-
pathogenic
g.(29686622_29935580)_(30327481_30671654)del
-
-
-
IL1RAPL1_000024
deletion extends from (6i_DXS7187)_(AHC_GK)
-
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
AHC, ID
-
PubMed: Carrie 1999
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
./.
_1_6i
c.(-25+1_779-1)_?del
r.0
p.0
Unknown
-
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
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.783C>G
r.(?)
p.(Asp261Glu)
Unknown
-
likely benign
g.29935585C>G
-
IL1RAPL1(NM_014271.3):c.783C>G (p.D261E)
-
IL1RAPL1_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.784T>G
r.(?)
p.(Ser262Ala)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.793C>G
r.(?)
p.(Leu265Val)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.889C>T
r.(?)
p.(Arg297*)
Unknown
-
likely pathogenic
g.29935691C>T
g.29917574C>T
-
-
IL1RAPL1_000058
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
565 gene panel
ID
UK10K_FINDWGA5410964
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.894_903del
r.(?)
p.(Trp299Thrfs*18)
Maternal (confirmed)
-
pathogenic (recessive)
g.29935696_29935705del
g.29917579_29917588del
-
-
IL1RAPL1_000053
-
PubMed: Redin 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
230-gene ID panel
ID
APN-82
PubMed: Redin 2014
analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother
M
-
France
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.1024C>T
r.(?)
p.(Arg342Cys)
Unknown
-
likely benign
g.29938178C>T
-
-
-
IL1RAPL1_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1028G>A
r.(?)
p.(Arg343Gln)
Unknown
-
VUS
g.29938182G>A
g.29920065G>A
-
-
IL1RAPL1_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1033G>A
r.(?)
p.(Ala345Thr)
Unknown
-
VUS
g.29938187G>A
-
IL1RAPL1(NM_014271.4):c.1033G>A (p.A345T)
-
IL1RAPL1_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1039G>A
r.(?)
p.(Val347Ile)
Unknown
ACMG
likely benign
g.29938193G>A
-
-
-
IL1RAPL1_000067
ACMG BS2, BP4
PubMed: Hiatt 2023
,
Journal: Hiatt 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
NDD
Pat21
PubMed: Hiatt 2023
,
Journal: Hiatt 2023
2-generation family, 1 affected, unaffected parents
M
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1039G>T
r.(?)
p.(Val347Phe)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.1054C>T
r.(?)
p.(Arg352Ter)
Unknown
-
pathogenic
g.29938208C>T
g.29920091C>T
-
-
IL1RAPL1_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
9
c.1100_1106del
r.(?)
p.(Ile367Serfs*7)
Parent #1
-
pathogenic
g.29959810_29959816del
g.29941693_29941699del
1730delTACTCTT
-
IL1RAPL1_000015
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
De novo
yes
1/142 cases
-
-
-
DNA
SEQ
-
-
autism
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
F
no
Canada
French Canadian
-
-
-
-
1
Johan den Dunnen
+/.
9
c.1100_1106del
r.(?)
p.Ile367Serfs*7
Unknown
-
NA
g.29959810_29959816del
g.29941693_29941699del
-
-
IL1RAPL1_000015
cDNA expression cloning HEK293 shows mislocalized protein (cytoplasm in cell surface), no rescue increased number/length neurite outgrowths
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
9
c.1136A>G
r.(?)
p.(Lys379Arg)
Maternal (confirmed)
-
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
-
-
-
DNA
SEQ
-
-
autism
-
PubMed: Piton 2008
,
Journal: Piton 2008
142 ASD cases
M
-
United Kingdom (Great Britain)
Anglo-Saxon
-
-
-
-
1
Johan den Dunnen
+/.
11
c.1377C>A
r.1377c>a
p.Tyr459*
Unknown
-
pathogenic
g.29973223C>A
g.29955106C>A
-
-
IL1RAPL1_000007
RNA expression lymphoblastoid cell line strongly reduced
PubMed: Carrie 1999
,
OMIM:var0001
-
-
Unknown
yes
-
-
-
-
DNA, RNA
DGGE, SEQ
-
-
MRX;IDX
-
PubMed: Carrie 1999
2-generation family, 3 affected brothers
M
no
-
-
-
-
-
-
3
Johan den Dunnen
?/.
-
c.1421T>G
r.(?)
p.(Ile474Ser)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1443C>A
r.(?)
p.(Tyr481*)
Unknown
-
VUS
g.29973289C>A
-
IL1RAPL1(NM_014271.3):c.1443C>A (p.Y481*)
-
IL1RAPL1_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
11
c.1460G>A
r.(?)
p.(Trp487*)
Maternal (confirmed)
-
pathogenic
g.29973306G>A
g.29955189G>A
-
-
IL1RAPL1_000025
-
PubMed: Tabolacci 2006
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
-
PubMed: Tabolacci 2006
,
PubMed: Kozak 1993
3-generation family, 4 affected males, 5 carrier females
-
no
Italy
-
-
-
-
-
4
Johan den Dunnen
+/.
-
c.1489C>T
r.(1489c>u)
p.(Arg497*)
Unknown
-
pathogenic
g.29973335C>T
g.29955218C>T
-
-
IL1RAPL1_000042
-
PubMed: Du 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG
-
-
autism
-
PubMed: Du 2018
-
M
-
China
-
-
-
-
-
1
Fei Li
+?/.
-
c.1489C>T
r.(?)
p.(Arg497*)
Unknown
ACMG
likely pathogenic
g.29973335C>T
g.29955218C>T
-
-
IL1RAPL1_000042
ACMG grading: PVS1,PM2
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-S
-
-
?
-
-
-
M
-
-
-
-
-
-
-
1
Andreas Laner
+/.
11
c.1510G>T
r.(?)
p.(Glu504*)
Maternal (inferred)
-
pathogenic
g.29973356G>T
g.29955239G>T
1510C>T
-
IL1RAPL1_000026
-
PubMed: de Brouwer 2007
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
-
PubMed: de Brouwer 2007
,
PubMed: Kerr 1992
-
M
-
-
European
-
-
-
-
1
Johan den Dunnen
-?/.
11
c.1605G>T
r.(?)
p.(=)
Maternal (inferred)
-
likely benign
g.29973451G>T
g.29955334G>T
T535T
-
IL1RAPL1_000001
found once, nonrecurrent change
PubMed: Tarpey 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377158-Pat?
PubMed: Tarpey 2009
-
M
?
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
-?/.
-
c.1605G>T
r.(?)
p.(Thr535=)
Unknown
-
likely benign
g.29973451G>T
-
IL1RAPL1(NM_014271.3):c.1605G>T (p.T535=)
-
IL1RAPL1_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1700T>C
r.(?)
p.(Ile567Thr)
Unknown
-
VUS
g.29973546T>C
-
-
-
IL1RAPL1_000055
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1722T>A
r.(?)
p.(Asp574Glu)
Unknown
-
VUS
g.29973568T>A
-
(p.Asp574Glu)
-
IL1RAPL1_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
11
c.1854A>Y
r.(?)
p.(Gln618His)
Maternal (confirmed)
-
likely benign
g.29973700A>Y
g.29955583A>Y
Q618H
-
IL1RAPL1_000017
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
Germline
-
1/142 cases
-
-
-
DNA
SEQ
-
-
autism
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
M
-
Canada
French Canadian
-
-
-
-
1
Johan den Dunnen
-?/.
11
c.1854A>Y
r.(?)
p.(Gln618His)
Maternal (confirmed)
-
likely benign
g.29973700A>Y
g.29955583A>Y
Q618H
-
IL1RAPL1_000017
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
Germline
-
1/190 controls
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
M
-
Canada
French Canadian
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.1894G>A
r.(?)
p.(Val632Ile)
Unknown
-
likely benign
g.29973740G>A
g.29955623G>A
IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I)
-
IL1RAPL1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1894G>A
r.(?)
p.(Val632Ile)
Unknown
-
likely benign
g.29973740G>A
g.29955623G>A
IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I)
-
IL1RAPL1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1894G>A
r.(?)
p.(Val632Ile)
Unknown
-
VUS
g.29973740G>A
-
IL1RAPL1(NM_014271.4):c.1894G>A (p.V632I)
-
IL1RAPL1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
11
c.1909A>T
r.(?)
p.(Thr637Ser)
Maternal (confirmed)
-
likely benign
g.29973755A>T
g.29955638A>T
T637S
-
IL1RAPL1_000018
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
Germline
-
1/190 controls
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
F
-
Canada
French Canadian
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1910C>G
r.(?)
p.(Thr637Ser)
Unknown
-
VUS
g.29973756C>G
-
IL1RAPL1(NM_014271.3):c.1910C>G (p.T637S)
-
IL1RAPL1_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1918C>G
r.(?)
p.(Leu640Val)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1918C>G
r.(?)
p.(Leu640Val)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1925C>G
r.(?)
p.(Ser642Cys)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
11
c.1927A>G
r.(?)
p.(Ile643Val)
Maternal (inferred)
-
likely benign
g.29973773A>G
g.29955656A>G
-
-
IL1RAPL1_000013
variant not in affected brother
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
Unknown
no
-
-
-
-
DNA
SEQ
-
-
ID
-
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
family, 2 affected brothers
M
-
-
-
-
-
-
-
2
Johan den Dunnen
-/.
11
c.1927A>G
r.(?)
p.Ile643Val
Unknown
-
NA
g.29973773A>G
g.29955656A>G
-
-
IL1RAPL1_000013
expression cloning functional assays give normal results
PubMed: Ramos-Brossier 2015
,
Journal: Ramos-Brossier 2015
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
11
c.1927A>G
r.(?)
p.(Ile643Val)
Maternal (confirmed)
-
likely benign
g.29973773A>G
g.29955656A>G
I643V
-
IL1RAPL1_000013
-
PubMed: Piton 2008
,
Journal: Piton 2008
-
-
Germline
-
1/190 controls
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Piton 2008
,
Journal: Piton 2008
190 controls
M
-
Canada
French Canadian
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.2049G>A
r.(?)
p.(Pro683=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.2067C>G
r.(?)
p.(Thr689=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
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