Global Variome shared LOVD
ITGB2 (integrin, beta 2 (complement component 3 re...))
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Global Variome, with Curator vacancy
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The variants shown are described using the NM_000211.3 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)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
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
arrayMET = array for methylation analysis
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 = single 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
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
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
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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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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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
+/.
14i_16_
c.(2080+1_2081-1)_*415{0}
r.?
p.?
Both (homozygous)
-
pathogenic
g.(?_46305868)_(46306818_46308607)del
g.(?_44885953)_(44886903_44888692)del
del ex15-16
-
ITGB2_000055
-
Journal: Haskologlu 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Journal: Haskologlu 2020
-
F
-
Turkey
-
-
-
-
-
1
Dirk Roos
+/.
14i_16_
c.(2080+1_2081-1)_*415{0}
r.?
p.?
Both (homozygous)
-
pathogenic
g.(?_46305868)_(46306818_46308607)del
g.(?_44885953)_(44886903_44888692)del
del ex15-16
-
ITGB2_000055
-
Journal: Haskologlu 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Journal: Haskologlu 2020
-
F
-
Turkey
-
-
-
-
-
1
Dirk Roos
+/.
_1_1i
c.-233_(-4+1_-3-1){0}
r.?
p.0?
Parent #2
-
pathogenic
g.(46330701_46340735)_(46340965_?)del
g.(44910786_44920820)_(44921050_?)del
del ex1
-
ITGB2_000241
-
Holland unpubl.,
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Holland unpubl.
PubMed: Roos 2023
,
Journal: Roos 2023
-
F
-
-
-
-
-
-
-
1
Dirk Roos
+/.
_1_16_
c.-233_*415{0}
r.0
p.0
Parent #1
-
pathogenic
g.(?_46305868)_(46340965_?)del
g.(?_44885953)_(44921050_?)del
del entire gene
-
ITGB2_000056
unknown variant 2nd chromosome
PubMed: Rivera-Matos 1995
,
Journal: Rivera-Matos 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Rivera-Matos 1995
,
Journal: Rivera-Matos 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
_1_16_
c.-233_*415{0}
r.0
p.0
Parent #2
-
pathogenic
g.(?_46305868)_(46340965_?)del
g.(?_44885953)_(44921050_?)del
del whole gene
-
ITGB2_000056
-
Castriconi 2007, Fiorini 2002, De Rose 2018,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Castriconi 2007, Fiorini 2002,
PubMed: Fiorini 2009
, De Rose 2018,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
_1_16_
c.-233_*415{0}
r.0
p.0
Parent #2
-
pathogenic
g.(?_46305868)_(46340965_?)del
g.(?_44885953)_(44921050_?)del
del whole gene
-
ITGB2_000056
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
-
-
-
-
-
-
-
1
Dirk Roos
+/.
_1_16_
c.-233_*415{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(?_46305868)_(46340965_?)del
g.(?_44885953)_(44921050_?)del
del whole gene
-
ITGB2_000056
-
PubMed: Sun 2019/Qian 2020
,
Journal: Sun 2019/Qian 2020
,
PubMed: Qian 2020
,
Journal: Qian 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat4
PubMed: Sun 2019/Qian 2020
,
Journal: Sun 2019/Qian 2020
,
PubMed: Qian 2020
,
Journal: Qian 2020
-
F
-
China
-
-
-
-
-
1
Dirk Roos
+/.
11i_16_
c.1413-416_*415{0}
r.1413_∗412delins[NM_004339.2:r.169_∗1984] (Arg472fsSer*28)
p.?
Paternal (confirmed)
-
pathogenic
g.46282852_46310554del
g.44862937_44890639del
g.43201_PTTG1IP:10890del27703 (NM_000211.3_c.1413-416_[NM_004339.3:c.169-1665]del)
-
ITGB2_000054
-
PubMed: Cher 2011
,
Journal: Cher 2011
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
-
PubMed: Cher 2011
,
Journal: Cher 2011
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
-
Singapore
-
-
-
-
-
1
Dirk Roos
-/.
_1
c.-403C>T
r.(?)
p.(?)
Unknown
-
benign
g.46341135G>A
g.44921220G>A
-
-
ITGB2_000242
-
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-111T>C
r.(?)
p.(=)
Unknown
-
benign
g.46340843A>G
g.44920928A>G
-
-
ITGB2_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
1
c.-111T>C
r.(?)
p.(=)
Unknown
-
likely benign
g.46340843A>G
g.44920928A>G
-
-
ITGB2_000016
-
PubMed: Zhao 2013
,
Journal: Zhao 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
cases
PubMed: Zhao 2013
,
Journal: Zhao 2013
association analysis 106 biliary atresia patients/108 unrelated healthy controls
-
-
China
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.-111T>C
r.(?)
p.(=)
Unknown
-
benign
g.46340843A>G
g.44920928A>G
-
-
ITGB2_000016
-
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-3-4701G>A
r.(=)
p.(=)
Both (homozygous)
-
VUS
g.46335401C>T
g.44915486C>T
-
-
ITGB2_000017
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+/.
1i_2i
c.-3-720_58+51del
r.-3_58del
p.0?
Both (homozygous)
-
pathogenic
g.46330591_46331422del
g.44910676_44911507del
del ex2
-
ITGB2_000233
-
PubMed: Roos 2002
,
Journal: Roos 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
Pat1
PubMed: Roos 2002
,
Journal: Roos 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents
F
yes
Turkey
-
-
-
-
-
2
Dirk Roos
+/.
1i_2i
c.-3-720_58+51del
r.-3_58del
p.0?
Both (homozygous)
-
pathogenic
g.46330591_46331422del
g.44910676_44911507del
del ex2
-
ITGB2_000233
-
PubMed: Roos 2002
,
Journal: Roos 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
sister
PubMed: Roos 2002
,
Journal: Roos 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
sister
F
yes
Turkey
-
-
-
-
-
1
Dirk Roos
+/.
1i_8i
c.(-4+1_-3-1)_(993+1_994-1)del
r.?
p.0?
Paternal (confirmed)
-
pathogenic
g.(46314976_46318981)_(46330701_46340735)del
g.(44895061_44899066)_(44910786_44920820)del
del ex2-8
-
ITGB2_000134
-
PubMed: Sun 2019
,
Journal: Sun 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat7
PubMed: Sun 2019
,
Journal: Sun 2019
-
F
-
China
-
-
-
-
-
1
Dirk Roos
-?/.
_1
-
r.(?)
p.(=)
Unknown
-
likely benign
g.46341645G>A
g.44921730G>A
-680C/T (c.-913C>T)
-
ITGB2_000051
-
PubMed: Zhao 2013
,
Journal: Zhao 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
cases
PubMed: Zhao 2013
,
Journal: Zhao 2013
association analysis 106 biliary atresia patients/108 unrelated healthy controls
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
12i
c.?
r.1622_1657del
p.Cys541_Gly553delinsTrp
Parent #1
-
pathogenic
g.?
-
1622del36
-
CSTB_000023
-
PubMed: Hixson 2004
,
Journal: Hixson 2004
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
-
PubMed: Hixson 2004
,
Journal: Hixson 2004
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
United States
-
-
-
-
-
1
Dirk Roos
+/.
3i_4i
c.?
r.148_328del
p.Asn50AlafsTer8
Both (homozygous)
-
pathogenic
g.?
-
-
-
CSTB_000023
-
PubMed: Fiorini 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
PatA
PubMed: Fiorini 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
-
-
-
-
-
-
-
1
Dirk Roos
+/.
12i_13i
c.?
r.1658_1877del
p.Gly553ValfsTer7
Paternal (inferred)
-
pathogenic
g.?
-
RNA del ex13
-
CSTB_000023
-
PubMed: Back 1992
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Back 1992
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
2
c.1A>T
r.(?)
p.(Met1?)
Both (homozygous)
-
pathogenic
g.46330697T>A
g.44910782T>A
-
-
ITGB2_000240
-
PubMed: Deshpande 2016
,
Journal: Deshpande 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
L12
PubMed: Deshpande 2016
,
Journal: Deshpande 2016
-
-
-
-
-
-
-
-
-
1
Dirk Roos
+/.
2
c.2T>A
r.(?)
p.(Met1?)
Parent #1
-
pathogenic
g.46330696A>T
g.44910781A>T
Met1Lys
-
ITGB2_000239
-
PubMed: Sligh 1992
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Sligh 1992
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
United States
-
-
-
-
-
1
Dirk Roos
-?/.
-
c.13C>A
r.(?)
p.(Arg5Ser)
Unknown
-
likely benign
g.46330685G>T
-
ITGB2(NM_000211.3):c.13C>A (p.R5S)
-
ITGB2_000244
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2
c.13C>T
r.(?)
p.(Arg5Cys)
Unknown
-
benign
g.46330685G>A
g.44910770G>A
-
-
ITGB2_000238
-
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2
c.24G>T
r.(?)
p.(Leu8=)
Unknown
-
benign
g.46330674C>A
g.44910759C>A
-
-
ITGB2_000087
-
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2
c.24G>T
r.24g>u
p.Leu8=
Both (homozygous)
-
benign
g.46330674C>A
g.44910759C>A
-
-
ITGB2_000087
-
PubMed: Wright 1995
,
Journal: Wright 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
PatC
PubMed: Wright 1995
,
Journal: Wright 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
yes
United Kingdom (Great Britain)
-
-
-
-
-
1
Dirk Roos
-/.
2
c.24G>T
r.(24g>u)
p.(Leu8=)
Unknown
-
benign
g.46330674C>A
g.44910759C>A
r.24g>u
-
ITGB2_000087
-
PubMed: Arnaout 1990
,
Journal: Arnaout 1990
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
patient
PubMed: Arnaout 1990
,
Journal: Arnaout 1990
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
-/.
-
c.24G>T
r.(?)
p.(Leu8=)
Unknown
-
benign
g.46330674C>A
-
-
-
ITGB2_000087
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2
c.28G>A
r.(?)
p.(Ala10Thr)
Unknown
-
benign
g.46330670C>T
g.44910755C>T
-
-
ITGB2_000237
-
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2
c.31C>T
r.(?)
p.(Leu11=)
Unknown
-
benign
g.46330667G>A
g.44910752G>A
-
-
ITGB2_000236
-
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.33G>C
r.(?)
p.(Leu11=)
Unknown
-
likely benign
g.46330665C>G
g.44910750C>G
ITGB2(NM_000211.3):c.33G>C (p.L11=)
-
ITGB2_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2_2i
c.41_58+2dup
r.(-3_58del)
p.0?
Parent #1
-
pathogenic
g.46330638_46330657dup
g.44910723_44910742dup
c.41_58+2dup20
-
ITGB2_000234
-
PubMed: Kurosawa 2018
,
Journal: Kurosawa 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Kurosawa 2018
,
Journal: Kurosawa 2018
-
F
-
Japan
-
-
-
-
-
1
Dirk Roos
+/.
2_2i
c.41_58+2dup
r.(-3_58del)
p.0?
Parent #2
-
pathogenic
g.46330638_46330657dup
g.44910723_44910742dup
c.41_58+2dup20
-
ITGB2_000234
-
PubMed: Kurosawa 2018
,
Journal: Kurosawa 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Kurosawa 2018
,
Journal: Kurosawa 2018
-
F
-
Japan
-
-
-
-
-
1
Dirk Roos
+/.
2
c.49del
r.(?)
p.(Leu17SerfsTer33)
Both (homozygous)
-
pathogenic
g.46330651del
g.44910736del
c.49delC
-
ITGB2_000235
-
Fischer unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Fischer unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
-
-
-
-
-
-
-
1
Dirk Roos
-?/.
-
c.51C>T
r.(?)
p.(Leu17=)
Unknown
-
likely benign
g.46330647G>A
-
ITGB2(NM_000211.3):c.51C>T (p.L17=)
-
ITGB2_000250
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.58+9T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.46330631A>G
g.44910716A>G
ITGB2(NM_000211.3):c.58+9T>C
-
ITGB2_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.58+12G>A
r.(=)
p.(=)
Unknown
-
benign
g.46330628C>T
-
-
-
ITGB2_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.59-15G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.46330302C>T
-
ITGB2(NM_000211.3):c.59-15G>A
-
ITGB2_000249
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2i
c.59-10C>A
r.[58_59ins[59-43_59-11;a;59-9_59-1],=]]
p.?
Maternal (confirmed)
-
pathogenic
g.46330297G>T
g.44910382G>T
-
-
ITGB2_000232
-
PubMed: Cher 2011
,
Journal: Cher 2011
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
-
PubMed: Cher 2011
,
Journal: Cher 2011
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
-
Singapore
-
-
-
-
-
1
Dirk Roos
+/.
2i
c.59-1G>A
r.spl
p.?
Both (homozygous)
-
pathogenic
g.46330288C>T
g.44910373C>T
-
-
ITGB2_000231
-
PubMed: Platt 2021
,
Journal: Platt 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
boy
PubMed: Platt 2021
,
Journal: Platt 2021
-
M
-
Egypt
-
-
-
-
-
1
Dirk Roos
+/.
2i
c.59-1G>A
r.spl
p.?
Parent #2
-
pathogenic
g.46330288C>T
g.44910373C>T
IVS2-1G>A
-
ITGB2_000231
-
Kanegane unpubl.,
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Kanegane unpubl.
PubMed: Roos 2023
,
Journal: Roos 2023
-
F
-
Viet Nam
-
-
-
-
-
1
Dirk Roos
+/.
3
c.66_67del
r.66_67del
p.Gln23GlyfsTer35
Parent #2
-
pathogenic
g.46330284_46330285del
g.44910369_44910370del
66_67delTC
-
ITGB2_000230
-
PubMed: Wright 1995
,
Journal: Wright 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
,
PubMed: Roos 2002
,
Journal: Roos 2002
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
PatE;Pat6
PubMed: Wright 1995
,
Journal: Wright 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
,
PubMed: Roos 2002
,
Journal: Roos 2002
2 generation family, 2 affected sibs, unaffected heterozygous carrier parents
F
-
United Kingdom (Great Britain)
-
-
-
-
-
2
Dirk Roos
+/.
3
c.66_67del
r.66_67del
p.Gln23GlyfsTer35
Parent #2
-
pathogenic
g.46330284_46330285del
g.44910369_44910370del
67_67delTC
-
ITGB2_000230
-
PubMed: Wright 1995
,
Journal: Wright 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
,
PubMed: Roos 2002
,
Journal: Roos 2002
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
PatK
PubMed: Wright 1995
,
Journal: Wright 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
,
PubMed: Roos 2002
,
Journal: Roos 2002
sib PatE
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Dirk Roos
+/.
3
c.77dup
r.(?)
p.(Lys27GlufsTer32)
Parent #1
-
pathogenic
g.46330269dup
g.44910354dup
c.77dupC
-
ITGB2_000229
-
CLB unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
CLB unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.79A>T
r.(?)
p.(Lys27Ter)
Parent #1
-
pathogenic
g.46330267T>A
g.44910352T>A
-
-
ITGB2_000228
-
Castriconi 2007, Fiorini 2002,
PubMed: Fiorini 2009
, De Rose 2018,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Castriconi 2007, Fiorini 2002,
PubMed: Fiorini 2009
, De Rose 2018,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.79A>T
r.(?)
p.(Lys27Ter)
Parent #1
-
pathogenic
g.46330267T>A
g.44910352T>A
-
-
ITGB2_000228
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.79A>T
r.(?)
p.(Lys27Ter)
Both (homozygous)
-
pathogenic
g.46330267T>A
g.44910352T>A
-
-
ITGB2_000228
-
PubMed: De Rose 2018
,
Journal: De Rose 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
P7
PubMed: De Rose 2018
,
Journal: De Rose 2018
-
M
-
Italy
-
-
-
-
-
1
Dirk Roos
+/.
3
c.82_95del
r.(?)
p.(Phe28LeufsTer26)
Parent #2
-
pathogenic
g.46330253_46330266del
g.44910338_44910351del
c.82_95del14
-
ITGB2_000227
-
PubMed: Kwon 2020
,
Journal: Kwon 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Kwon 2020
,
Journal: Kwon 2020
-
F
-
Korea
-
-
-
-
-
1
Dirk Roos
-?/.
-
c.92G>A
r.(?)
p.(Ser31Asn)
Unknown
-
likely benign
g.46330254C>T
g.44910339C>T
ITGB2(NM_000211.3):c.92G>A (p.S31N)
-
ITGB2_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.106T>A
r.(?)
p.(Cys36Ser)
Both (homozygous)
-
pathogenic
g.46330240A>T
g.44910325A>T
-
-
ITGB2_000226
-
NIH/Unal unp,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
NIH/Unal unp,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
-
Turkey
-
-
-
-
-
1
Dirk Roos
+/.
3
c.106T>A
r.(?)
p.(Cys36Ser)
Both (homozygous)
-
pathogenic
g.46330240A>T
g.44910325A>T
-
-
ITGB2_000226
-
PubMed: Kambli 2020
,
Journal: Kambli 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat31
PubMed: Kambli 2020
,
Journal: Kambli 2020
-
M
-
India
-
-
-
-
-
1
Dirk Roos
+/.
3
c.108_112del
r.(?)
p.(Cys36Ter)
Both (homozygous)
-
pathogenic
g.46330235_46330239del
g.44910320_44910324del
c.108_112delCATCG
-
ITGB2_000225
-
PubMed: Stranneheim 2021
,
Journal: Stranneheim 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Stranneheim 2021
,
Journal: Stranneheim 2021
-
-
-
-
-
-
-
-
-
1
Dirk Roos
-?/.
3
c.117G>A
r.(?)
p.(Ser39=)
Unknown
-
likely benign
g.46330229C>T
g.44910314C>T
-
-
ITGB2_000050
-
PubMed: Zhao 2013
,
Journal: Zhao 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
cases
PubMed: Zhao 2013
,
Journal: Zhao 2013
association analysis 106 biliary atresia patients/108 unrelated healthy controls
-
-
China
-
-
-
-
-
1
Johan den Dunnen
-/.
3
c.117G>A
r.(?)
p.(Ser39=)
Unknown
-
benign
g.46330229C>T
g.44910314C>T
-
-
ITGB2_000050
-
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
homozygosity likely
PubMed: Lopez 1993
,
Journal: Lopez 1993
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Lopez 1993
,
Journal: Lopez 1993
-
F
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
-
PubMed: Fiorini 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Fiorini 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
-
Castriconi 2007, De Rose 2018,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Castriconi 2007, De Rose 2018,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
Tunisia
-
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
homozygosity likely
Somech unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Somech unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
homozygosity likely
Somech unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Somech unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
-
PubMed: Wolach 2019
,
Journal: Wolach 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat15
PubMed: Wolach 2019
,
Journal: Wolach 2019
-
M
-
Israel
Arab
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
-
PubMed: Wolach 2019
,
Journal: Wolach 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat16
PubMed: Wolach 2019
,
Journal: Wolach 2019
-
M
-
Israel
Arab
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
-
PubMed: Wolach 2019
,
Journal: Wolach 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat17
PubMed: Wolach 2019
,
Journal: Wolach 2019
-
F
-
Israel
Arab
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Both (homozygous)
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
-
PubMed: Wolach 2019
,
Journal: Wolach 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat9
PubMed: Wolach 2019
,
Journal: Wolach 2019
-
F
-
Israel
Arab
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Parent #1
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
-
Schwarz unpubl.,
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
fam. U14-0087 (2x)
Schwarz unpubl.
PubMed: Roos 2023
,
Journal: Roos 2023
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.119_128del
r.(?)
p.(Gly40AlafsTer7)
Parent #1
-
pathogenic
g.46330219_46330228del
g.44910304_44910313del
c.119_128del10
-
ITGB2_000223
-
Schwarz unpubl.,
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
fam. U14-0087 (2x)
Schwarz unpubl.
PubMed: Roos 2023
,
Journal: Roos 2023
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.120del
r.(?)
p.(Gly42AlafsTer8)
Parent #1
-
pathogenic
g.46330229del
g.44910314del
c.120delG
-
ITGB2_000224
-
Klein unpubl., ,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Klein unpubl., ,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.130A>C
r.(?)
p.(Thr44Pro)
Parent #1
-
pathogenic
g.46330216T>G
g.44910301T>G
-
-
ITGB2_000222
-
PubMed: Vahlquist 2015
,
Journal: Vahlquist 2015
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
PubMed: Vahlquist 2015
,
Journal: Vahlquist 2015
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.130A>C
r.(?)
p.(Thr44Pro)
Parent #1
-
pathogenic
g.46330216T>G
g.44910301T>G
-
-
ITGB2_000222
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
3
c.134G>A
r.(?)
p.(Trp45Ter)
Both (homozygous)
-
pathogenic
g.46330212C>T
g.44910297C>T
-
-
ITGB2_000221
-
PubMed: Qureshi 2020
,
Journal: Qureshi 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat8
PubMed: Qureshi 2020
,
Journal: Qureshi 2020
-
F
-
Pakistan
-
-
-
-
-
1
Dirk Roos
+/.
3
c.134G>A
r.(?)
p.(Trp45Ter)
Both (homozygous)
-
pathogenic
g.46330212C>T
g.44910297C>T
-
-
ITGB2_000221
-
PubMed: Platt 2021
,
Journal: Platt 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
boy
PubMed: Platt 2021
,
Journal: Platt 2021
-
F
-
Pakistan
-
-
-
-
-
1
Dirk Roos
-?/.
-
c.147+5G>A
r.spl?
p.?
Unknown
-
likely benign
g.46330194C>T
g.44910279C>T
ITGB2(NM_000211.3):c.147+5G>A
-
ITGB2_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.147+9C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.46330190G>A
g.44910275G>A
ITGB2(NM_000211.3):c.147+9C>T, ITGB2(NM_001127491.3):c.147+9C>T
-
ITGB2_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.147+9C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.46330190G>A
-
ITGB2(NM_000211.3):c.147+9C>T, ITGB2(NM_001127491.3):c.147+9C>T
-
ITGB2_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
3i
c.147+16A>G
r.(?)
p.?
Unknown
-
benign
g.46330183T>C
g.44910268T>C
-
-
ITGB2_000220
-
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.148-1089A>G
r.(=)
p.(=)
Unknown
-
benign
g.46328099T>C
g.44908184T>C
ITGB2(NM_000211.5):c.148-1089A>G
-
ITGB2_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.148-16G>T
r.(=)
p.(=)
Unknown
-
benign
g.46327026C>A
-
-
-
ITGB2_000243
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3i
c.148-1G>A
r.spl
p.?
Both (homozygous)
-
pathogenic
g.46327011C>T
g.44907096C>T
IVS3-1G>A
-
ITGB2_000219
-
Rawat unpubl.,
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Rawat unpubl.
PubMed: Roos 2023
,
Journal: Roos 2023
-
F
-
India
-
-
-
-
-
1
Dirk Roos
-?/.
-
c.162G>A
r.(?)
p.(Pro54=)
Unknown
-
likely benign
g.46326996C>T
g.44907081C>T
ITGB2(NM_000211.3):c.162G>A (p.P54=), ITGB2(NM_001127491.3):c.162G>A (p.P54=)
-
ITGB2_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.162G>A
r.(?)
p.(Pro54=)
Unknown
-
likely benign
g.46326996C>T
g.44907081C>T
ITGB2(NM_000211.3):c.162G>A (p.P54=), ITGB2(NM_001127491.3):c.162G>A (p.P54=)
-
ITGB2_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
4
c.162G>A
r.(?)
p.(Pro54=)
Unknown
-
benign
g.46326996C>T
g.44907081C>T
-
-
ITGB2_000013
-
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
4
c.162G>A
r.162g>a
p.Pro54=
Unknown
-
benign
g.46326996C>T
g.44907081C>T
-
-
ITGB2_000013
-
PubMed: Wright 1995
,
Journal: Wright 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LAD
PatR
PubMed: Wright 1995
,
Journal: Wright 1995
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Dirk Roos
?/.
-
c.182G>A
r.(?)
p.(Arg61His)
Unknown
-
VUS
g.46326976C>T
-
ITGB2(NM_000211.3):c.182G>A (p.R61H)
-
ITGB2_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.184T>C
r.(?)
p.(Cys62Arg)
Both (homozygous)
-
pathogenic
g.46326974A>G
g.44907059A>G
-
-
ITGB2_000218
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
4
c.186C>A
r.(?)
p.(Cys62Ter)
Parent #1
-
pathogenic
g.46326972G>T
g.44907057G>T
-
-
ITGB2_000217
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
4
c.186C>A
r.(?)
p.(Cys62Ter)
Both (homozygous)
-
pathogenic
g.46326972G>T
g.44907057G>T
-
-
ITGB2_000217
-
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat5
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
M
-
Pakistan
-
-
-
-
-
1
Dirk Roos
+/.
4
c.186C>A
r.(?)
p.(Cys62Ter)
Both (homozygous)
-
pathogenic
g.46326972G>T
g.44907057G>T
-
-
ITGB2_000217
-
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat6
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
F
-
Pakistan
-
-
-
-
-
1
Dirk Roos
+/.
4
c.186C>A
r.(?)
p.(Cys62Ter)
Both (homozygous)
-
pathogenic
g.46326972G>T
g.44907057G>T
-
-
ITGB2_000217
-
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat7
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
F
-
Pakistan
-
-
-
-
-
1
Dirk Roos
+/.
4
c.186C>A
r.(?)
p.(Cys62Ter)
Both (homozygous)
-
pathogenic
g.46326972G>T
g.44907057G>T
-
-
ITGB2_000217
-
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat8
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
F
-
Pakistan
-
-
-
-
-
1
Dirk Roos
+/.
4
c.186C>A
r.(?)
p.(Cys62Ter)
Both (homozygous)
-
pathogenic
g.46326972G>T
g.44907057G>T
-
-
ITGB2_000217
-
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat12
PubMed: Tipu 2020
,
Journal: Tipu 2020
-
F
-
Pakistan
-
-
-
-
-
1
Dirk Roos
+/.
4
c.186C>A
r.(?)
p.(Cys62Ter)
Parent #1
-
pathogenic
g.46326972G>T
g.44907057G>T
-
-
ITGB2_000217
-
Holland unpubl.,
PubMed: Roos 2023
,
Journal: Roos 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Holland unpubl.
PubMed: Roos 2023
,
Journal: Roos 2023
-
F
-
-
-
-
-
-
-
1
Dirk Roos
+/.
4
c.199C>T
r.(?)
p.(Gln67Ter)
Both (homozygous)
-
pathogenic
g.46326959G>A
g.44907044G>A
C199T
-
ITGB2_000216
-
PubMed: Roos 2002
,
Journal: Roos 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat3
PubMed: Roos 2002
,
Journal: Roos 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
2-generation family, affected sister/brother, unaffected heterozygous carrier parents
F
yes
Switzerland
-
-
-
-
-
2
Dirk Roos
+/.
4
c.199C>T
r.(?)
p.(Gln67Ter)
Both (homozygous)
-
pathogenic
g.46326959G>A
g.44907044G>A
C199T
-
ITGB2_000216
-
PubMed: Roos 2002
,
Journal: Roos 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
brother
PubMed: Roos 2002
,
Journal: Roos 2002
,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
brother
M
yes
Switzerland
-
-
-
-
-
1
Dirk Roos
+/.
4
c.199C>T
r.(?)
p.(Gln67Ter)
Parent #2
-
pathogenic
g.46326959G>A
g.44907044G>A
-
-
ITGB2_000216
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
GeneDx unpubl.,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
M
-
-
-
-
-
-
-
1
Dirk Roos
+/.
4
c.215del
r.(?)
p.(Gly72AlafsTer32)
Both (homozygous)
-
pathogenic
g.46326946del
g.44907031del
c.212delG
-
ITGB2_000215
-
PubMed: Kambli 2020
,
Journal: Kambli 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat54
PubMed: Kambli 2020
,
Journal: Kambli 2020
-
F
-
India
-
-
-
-
-
1
Dirk Roos
-?/.
-
c.228C>T
r.(?)
p.(Asp76=)
Unknown
-
likely benign
g.46326930G>A
g.44907015G>A
ITGB2(NM_001127491.3):c.228C>T (p.D76=)
-
ITGB2_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
4
c.229G>A
r.(?)
p.(Asp77Asn)
Unknown
-
benign
g.46326929C>T
g.44907014C>T
-
-
ITGB2_000214
-
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.268del
r.(?)
p.(Asp90ThrfsTer14)
Both (homozygous)
-
pathogenic
g.46326890del
g.44906975del
c.268delG
-
ITGB2_000213
-
Klein unpubl., ,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
-
Klein unpubl., ,
PubMed: Van De Vijver 2012
,
Journal: Van De Vijver
-
F
-
-
-
-
-
-
-
1
Dirk Roos
+/.
4
c.268del
r.(?)
p.(Asp90ThrfsTer14)
Both (homozygous)
-
pathogenic
g.46326890del
g.44906975del
c.268delG
-
ITGB2_000213
-
PubMed: De Rose 2018
,
Journal: De Rose 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
P4
PubMed: De Rose 2018
,
Journal: De Rose 2018
-
F
-
Italy
-
-
-
-
-
1
Dirk Roos
+/.
4
c.305_306del
r.(?)
p.(Lys102SerfsTer39)
Both (homozygous)
-
pathogenic
g.46326855_46326856del
g.44906940_44906941del
c.305_306delAA
-
ITGB2_000212
-
PubMed: Yaz 2021
,
Journal: Yaz 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat8
PubMed: Yaz 2021
,
Journal: Yaz 2021
-
F
-
Syria
-
-
-
-
-
1
Dirk Roos
+/.
4
c.305_306del
r.(?)
p.(Lys102SerfsTer39)
Both (homozygous)
-
pathogenic
g.46326855_46326856del
g.44906940_44906941del
c.305_306delAA
-
ITGB2_000212
-
PubMed: Yaz 2021
,
Journal: Yaz 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LAD
Pat9 2x
PubMed: Yaz 2021
,
Journal: Yaz 2021
-
M
-
Syria
-
-
-
-
-
1
Dirk Roos
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