Global Variome shared LOVD
CYBB (cytochrome b-245, beta polypeptide)
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The variants shown are described using the NM_000397.3 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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Matches
Text
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space
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Text
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!
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=""
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Date
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Date
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Date
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Date
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Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
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Numeric
23
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Numeric
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Numeric
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<
Numeric
<23
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Numeric
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Numeric
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Numeric
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combination
Numeric
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1028 entries on 11 pages. Showing entries 1 - 100.
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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
+/.
_1
-
r.(=)
p.(=)
Maternal (inferred)
-
pathogenic (recessive)
g.37639262A>C
g.37780009A>C
-57A>C (c.-69A>C)
-
CYBB_000126
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0089
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1
-
r.(=)
p.(=)
Maternal (inferred)
-
pathogenic (recessive)
g.37639264T>C
g.37780011T>C
-55T>C (c.-67T>C)
-
CYBB_000126
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0166
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1
-
r.(=|<1)
p.(=|<1)
Maternal (inferred)
-
pathogenic (recessive)
g.37639265T>C
g.37780012T>C
-66T>C
-
CYBB_000126
-
PubMed: Wang 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat1
PubMed: Wang 2019
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
11i_13_
c.(1314+1_1315-1)_*2544{0}
r.?
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.(37664422_37665639)_(37672714_?)del
g.(37805169_37806386)_(37813461_?)del
del >4.3kb
-
CYBB_000414
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0172
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
11i_13_
c.(1461+1_1462-1)_*2544{0}
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(37665787_37668819)_(37672714_?)del
g.(37806534_37809566)_(37813461_?)del
del ex12-13
-
CYBB_000448
>6Kb deletion
PubMed: Ariga 1998
,
PubMed: Ishibashi 2000
-
-
De novo
-
-
-
-
-
DNA
Southern
-
-
CGD
Pat15;Pat91-47
PubMed: Ariga 1998
,
PubMed: Ishibashi 2000
2-generation family, 1 affected, non-carrier mother
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
11i_13_
c.(1461+1_1462-1)_*2544{0}
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(37665787_37668819)_(37672714_?)del
g.(37806534_37809566)_(37813461_?)del
del ex12-13
-
CYBB_000448
2Kb deletion
PubMed: Ishibashi 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat91-48
PubMed: Ishibashi 2000
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
4i_13_
c.(337+1_338-1)_*2544{0}
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(37651313_37652917)_(37672714_?)del
g.(37792060_37793664)_(37813461_?)del
del ex5-13
-
CYBB_000233
-
PubMed: Zhou 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
Pat148
PubMed: Zhou 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
7i_13_
c.(804+1_805-1)_*2544{0}
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(37658338_37660508)_(37672714_?)del
g.(37799085_37801255)_(37813461_?)del
del ex8-13
-
CYBB_000318
-
PubMed: Zhou 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat145
PubMed: Zhou 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
8i_13_
c.(897+1_898-1)_*2544{0}
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(37660602_37663129)_(37672714_?)del
g.(37801349_37803876)_(37813461_?)del
del ex9-13
-
CYBB_000336
-
PubMed: Wang 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat15
PubMed: Wang 2019
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_3i
c.-61_(252+1_253-1){0}
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37642854_37651227)del
g.(?_37780017)_(37783601_37791974)del
del ex1-3
-
CYBB_000142
-
PubMed: Jakobsen 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat7
PubMed: Jakobsen 2012
-
M
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_3i
c.-61_(252+1_253-1){0}
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37642854_37651227)del
g.(?_37780017)_(37783601_37791974)del
del ex1-3
-
CYBB_000142
-
PubMed: Zhou 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat142
PubMed: Zhou 2018
2-generation family, 1 affected, unaffected non-carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.-61_(45+1_46-1){0}
r.0?
p.0?
Maternal (inferred)
-
pathogenic (recessive)
g.(?_37639270)_(37639376_37641340)del
g.(?_37780017)_(37780123_37782087)del
del ex1
-
CYBB_000141
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
patient
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.-61_(45+1_46-1){0}
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37639376_37641340)del
g.(?_37780017)_(37780123_37782087)del
del ex1
-
CYBB_000141
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat3
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_7i
c.-61_(675_805-1){0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37658208_37660508)del
g.(?_37780017)_(37798955_37801255)del
del ex1-7
-
CYBB_000143
25Kb deletion
PubMed: Faizunnessa 1997
,
PubMed: Ishibashi 2000
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat91-45
PubMed: Faizunnessa 1997
,
PubMed: Ishibashi 2000
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_7i
c.-61_(804+1_805-1){0}
r.0?
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_37639270)_(37658338_37660508)del
g.(?_37780017)_(37799085_37801255)del
del ex1-7
-
CYBB_000144
-
PubMed: Wang 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat17
PubMed: Wang 2019
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del >30kb
-
CYBB_000005
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0119
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del >30kb
-
CYBB_000005
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0034
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del >30kb
-
CYBB_000005
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
patient
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del >30kb
-
CYBB_000005
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0169
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del >30kb
-
CYBB_000005
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0201
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del >30kb
-
CYBB_000005
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0167
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del >30kb
-
CYBB_000005
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
patient
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
(1-?_1710+?)del
-
CYBB_000005
-
PubMed: He 2014
,
PubMed: Xu 2014
,
PubMed: Wu 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat133;Pat35
PubMed: He 2014
,
PubMed: Xu 2014
,
PubMed: Wu 2017
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
gp91 large deletion
-
CYBB_000005
-
PubMed: Kutukculer 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat1
PubMed: Kutukculer 2019
-
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
-
-
CYBB_000005
500Kb multigene deletion
Okubo 1992,
PubMed: Ishibashi 2000
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat91-43
Okubo 1992,
PubMed: Ishibashi 2000
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
-
-
CYBB_000005
500Kb multigene deletion
PubMed: Ishibashi 2000
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
patient;Pat91-44
PubMed: Ishibashi 2000
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del CYBB gene
-
CYBB_000005
-
PubMed: Wolach 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
-
PubMed: Wolach 2017
family, 1 affected
M
-
Israel
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del ex1-13
-
CYBB_000005
-
PubMed: Zhou 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat143
PubMed: Zhou 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del ex1-13
-
CYBB_000005
-
PubMed: Zhou 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat144
PubMed: Zhou 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del ex1-13
-
CYBB_000005
-
PubMed: Zhou 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat146
PubMed: Zhou 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del ex1-13
-
CYBB_000005
-
PubMed: Zhou 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat147
PubMed: Zhou 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del ex 1-13
-
CYBB_000005
-
PubMed: Gao 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat98
PubMed: Gao 2019
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del ex 1-13
-
CYBB_000005
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat99
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
gross deletion
-
CYBB_000005
-
PubMed: Ko 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat1
PubMed: Ko 2014
-
M
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
CYBB del
-
CYBB_000005
-
PubMed: Koker 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Fam23Pat29
PubMed: Koker 2013
family, 1 affected, unaffected heterozygous carrier mother/female relatives
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
CYBB del
-
CYBB_000005
-
PubMed: Koker 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Fam24Pat30
PubMed: Koker 2013
family, 1 affected, unaffected heterozygous carrier mother/female relatives
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
CYBB del
-
CYBB_000005
-
PubMed: Koker 2013
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Fam25Pat31
PubMed: Koker 2013
-
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_37639270)_(37672714_?)del
g.(?_37780017)_(37813461_?)del
del CYBB
-
CYBB_000005
-
PubMed: Aygun 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Fam8Pat15
PubMed: Aygun 2020
2-generation family, 1 affected, non-affected heterozygous carrier mother
M
no
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
12
c.1528_1529deT
r.(?)
p.(Leu510ValfsTer8)
Maternal (confirmed)
-
pathogenic (recessive)
g.37668886_37668887del
g.37809633_37809634del
1528_1529delTT
-
CYBB_000460
-
PubMed: Koker 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Fam22Pat28
PubMed: Koker 2013
family, 1 affected, unaffected heterozygous carrier mother
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-2230095_*1228885del
r.0
p.0
Unknown
-
pathogenic (recessive)
g.35409236_38899055del
-
hg17 35168893-38655271del
-
CYBB_000481
deletion incl. XK, CYBB, RPGR, OTC, TSPAN7
PubMed: Yamada 2010
-
-
De novo
-
-
-
-
-
DNA
arrayCGH, PCR, SEQ
-
-
?
Pat1
PubMed: Yamada 2010
-
M
no
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.(?_-94198)_(*2544_?)del
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37545133)_(37672714_?)del
g.(?_37685880)_(37813461_?)del
del CYBB, XK
-
XK_000018
210kb deletion
PubMed: Martel 2012
-
-
De novo
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
CGD
Pat20
PubMed: Martel 2012
2-generation family, non-carrier mother
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.(?_-94198)_(*2544_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_37545133)_(37672714_?)del
g.(?_37685880)_(37813461_?)del
del CYBB, XK
-
XK_000018
1.3Mb deletion
PubMed: Martel 2012
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
CGD
Pat21
PubMed: Martel 2012
2-generation family, heterozygous carrier mother
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
_1
c.-65C>T
r.?
p.?
Unknown
-
pathogenic (recessive)
g.37639266C>T
g.37780013C>T
-53C>T
-
CYBB_000126
-
PubMed: Suzuki 1998
,
PubMed: Ishibashi 2000
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
patient;Pat91-1
PubMed: Suzuki 1998
,
PubMed: Ishibashi 2000
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.(37372045_37372104)_(37965797_37965856)del
-
-
-
CYBB_000007
593.8 kb deletion
PubMed: Arai 2012
-
-
Germline
-
-
-
-
-
DNA
arrayCGH
-
-
CGD
22383943-Pat3
PubMed: Arai 2012
carrier mother
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic
g.(35839374_35839433)_(37787250_37787309)del
-
-
-
CYBB_000007
1944.5 kb deletion
PubMed: Arai 2012
-
-
De novo
-
-
-
-
-
DNA
arrayCGH
-
-
CGD
22383943-Pat4
PubMed: Arai 2012
mother not a carrier
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(32407730_32407789)_(38122529_38122588)del
-
-
46,X,del(X)(p21.1p21.2
DMD_042217
5711.4 kb deletion
PubMed: Arai 2012
-
-
Germline
-
-
-
-
-
DNA
arrayCGH
-
-
CGD
22383943-Pat5
PubMed: Arai 2012
carrier mother
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
?/.
_1_13_
c.-61_*2544{2}
r.?
p.?
Maternal (confirmed)
-
VUS
g.(36868901_37519019)_(37704713_38023983)dup
-
hg18 g.(36778822_37403938)_(37589657_37908927)dup
-
CYBB_000004
-
PubMed: Oshima 2009
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, MLPA, Southern
-
-
-
19449031-PatCo3
PubMed: Oshima 2009
familial case, carrier mother
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1
-
r.(=|<1)
p.(=|<1)
Unknown
-
pathogenic (recessive)
g.37639266C>T
g.37780013C>T
-65C>T
-
CYBB_000126
-
PubMed: Rawat 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGDX
Pat11
PubMed: Rawat 2021
patient
M
-
India
-
-
-
-
-
1
Johan den Dunnen
+/.
_12i_13_
c.(1586+1_1587-1)_*2544{0}
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(37668945_37670043)_(37672714_?)del
g.(37809692_37810790)_(37813461_?)del
del ex13
-
CYBB_000117
-
PubMed: Royer-Pokor 1986
,
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
Southern
-
-
CGDX
PatJW;A0203
PubMed: Royer-Pokor 1986
,
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.37607818_37672764del
g.37748565_37813511del
hg17 37364030-37428980del64950
-
CYBB_000005
-
PubMed: Arai 2012
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ
-
-
CGD
22383943-Pat1
PubMed: Arai 2012
carrier mother
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(30300000_30577566)_(38080045_38200000)del
-
hg19 30577566-38080045del
-
CYBB_000005
7.5Mb deletion incl. GK, DMD, CFAP47, CYBB, XK, RPGR
PubMed: Bi 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNVseq
?
patient
PubMed: Bi 2023
2-generation family, 1 affected, unaffected carrier mother/sister
M
-
China
-
00y03m
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.31683517_37789444del
-
-
-
CYBB_000005
-
PubMed: Peng 2007
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CGD
Pat2
PubMed: Peng 2007
2-generation family, 1 affected, unaffected carrier mother
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.37607818_37672762del
g.37748565_37813509del
hg17 37364030_37428980del64950
-
CYBB_000005
58.7kb deletion
PubMed: Arai 2012
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCR, SEQ
-
-
CGDX
Pat1(A1472)
PubMed: Arai 2012
2-generation family, 1 affected, heterozygous carrier mother
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(37372045_37372104)_(37965797_37965856)del
-
hg17 g.(37128233_37128292)_(37722014_37722073)del
-
CYBB_000005
593.8kb deletion incl. XK, CYBB, DYNLT3
PubMed: Arai 2012
-
-
Germline
-
-
-
-
-
DNA
arrayCGH
-
-
CGDX
Pat3
PubMed: Arai 2012
2-generation family, 1 affected, heterozygous carrier mother
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(35839374_35839433)_(37787250_37787309)del
-
hg17 chrX:g.(35599031_35599090)_(37543467_37543526)del
-
CYBB_000005
1944.5kb deletion incl. XK, CYBB, DYNLT3; mother not avaliable
PubMed: Arai 2012
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
arrayCGH
-
-
CGDX
Pat4
PubMed: Arai 2012
family, 1 affected
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(32407730_32407789)_(38122529_38122588)del
-
hg17 g.(32167387_32167446)_(37878746_37878805)del
-
CYBB_000005
5711.4kb deletion incl. DMD, XK, CYBB, DYNLT3
PubMed: Arai 2012
-
-
Germline
-
-
-
-
markedly skewed X-inactivation (nromal chromosome inactive)
DNA
arrayCGH
-
-
CGDX
Pat5(A1445)
PubMed: Arai 2012
2-generation family, 1 affected, heterozygous carrier mother
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.37015744_37854516delins37007623_37007658
-
hg17 36775400-37610734delins36
-
CYBB_000005
deletion incl. XK, CYBB; insertionTGGAGCAAGGTAACTGGAATGTCCTGCTAGCTTCCC
PubMed: Yamada 2010
-
-
Germline
yes
-
-
-
-
DNA
arrayCGH, PCR, SEQ
-
-
CGDX
Pat2
PubMed: Yamada 2010
2-generation family, 2 affected brothers, unaffected carrier mother
M
-
Japan
-
-
-
-
-
2
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37545133)_(37706889_?)del
g.(?_37685880)_(37847636_?)del
del gene
-
CYBB_000005
deletion incl. XK, CYBB, DYNLT3
PubMed: Xu 2014
,
PubMed: Wu 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, PCR
-
-
CGD
Pat23(A1446)
PubMed: Xu 2014
,
PubMed: Wu 2017
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_37545133)_(37672714_?)del
g.(?_37685880)_(37813461_?)del
del ex 1-13
-
CYBB_000005
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat100
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_37545133)_(37672714_?)del
g.(?_37685880)_(37813461_?)del
del ex 1-13
-
CYBB_000005
-
PubMed: Gao 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat101
PubMed: Gao 2019
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_13_
c.-61_*2544{0}
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_31138513)_(37672714_?)del
g.(?_31120396)_(37813461_?)del
del DMD gene
-
DMD_010179
5.5Mb Xp21.1-p11.4 deletion incl. DMD, XK, CYBB
PubMed: Kekou 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
arrayCGH, MLPA
-
-
BMD/DMD, CGD, MCLDS
D687
PubMed: Kekou 2023
contiguous gene syndrome
M
-
Greece
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_13_
c.142-289_*2544{0}
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.[37642454_(37731114_37731173);(37758263_37758322)_37856174dup]
-
hg17 g.(37402945_37403004)_(37487331_37487390)del;(37514480_37514539)_(37606312_37606370)dup
-
CYBB_000118
complex rearrangement, 84.4kb deletion (incl. CYBB and LANCL3) and 91.9kb duplication and possible inversion
PubMed: Arai 2012
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCR, SEQ
-
-
CGDX
Pat2(A1471)
PubMed: Arai 2012
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.?
r.[483_484insN[115],338_483delinsN[115]]
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.?
-
483-484ins115 338-483del146483-484ins115 (K161fsX173 A113fsX3)
-
CLCN5_000000
variant detected in RNA, variant at DNA not described
PubMed: Xu 2014
,
PubMed: Wu 2017
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
CGD
Pat8
PubMed: Xu 2014
,
PubMed: Wu 2017
family, affected proband and cousin
M
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
2
c.?
r.46_92del
p.?
Unknown
-
pathogenic (recessive)
g.?
-
46-92del46 (L16fsX18)
-
CLCN5_000000
variant detected in RNA, variant at DNA not described
PubMed: Xu 2014
,
PubMed: Wu 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
CGD
Pat16
PubMed: Xu 2014
,
PubMed: Wu 2017
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.?
r.[338_674del,484_674del]
p.?
Unknown
-
pathogenic (recessive)
g.?
-
(A113fsX17,N162fsX17)
-
CLCN5_000000
variant detected in RNA, variant at DNA not described
PubMed: Xu 2014
,
PubMed: Wu 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
CGD
Pat22
PubMed: Xu 2014
,
PubMed: Wu 2017
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.?
r.(254_312del)
p.(Cys86MetfsTer17)
Unknown
-
pathogenic (recessive)
g.?
g.?
254_312del59
-
CLCN5_000000
-
PubMed: Zhou 2018
,
PubMed: Wang 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat23
PubMed: Zhou 2018
,
PubMed: Wang 2019
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
pathogenic (recessive)
g.37639331A>G
g.37780078A>G
M1V
-
CYBB_000145
-
PubMed: He 2014
,
PubMed: Wu 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat49
PubMed: He 2014
,
PubMed: Wu 2017
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
pathogenic (recessive)
g.37639331A>G
g.37780078A>G
(M1V)
-
CYBB_000145
-
PubMed: Zhou 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat125
PubMed: Zhou 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Maternal (confirmed)
-
pathogenic (recessive)
g.37639331A>G
g.37780078A>G
-
-
CYBB_000145
-
PubMed: Gao 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat1
PubMed: Gao 2019
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
pathogenic (recessive)
g.37639331A>G
g.37780078A>G
1A>G;6delG
-
CYBB_000145
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat2
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1_3delinsTT
r.(?)
p.(Met1?)
Unknown
-
pathogenic (recessive)
g.37639331_37639333delinsTT
g.37780078_37780080delinsTT
1_3delATGinsTT (M1LfsX6)
-
CYBB_000146
-
PubMed: Zhou 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat25
PubMed: Zhou 2018
2-generation family, 1 affected, unaffected non-carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.2T>G
r.(?)
p.(Met1?)
Unknown
-
pathogenic (recessive)
g.37639332T>G
g.37780079T>G
-
-
CYBB_000147
-
PubMed: Rawat 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGDX
Pat31
PubMed: Rawat 2021
patient
M
-
India
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.4G>T
r.(?)
p.(Gly2Trp)
Unknown
-
pathogenic (recessive)
g.37639334G>T
g.37780081G>T
4C>T
-
CYBB_000148
-
PubMed: Wang 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat67
PubMed: Wang 2019
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.6del
r.(?)
p.(Asn3ThrfsTer4)
Maternal (inferred)
-
pathogenic (recessive)
g.37639336del
g.37780083del
1A>G;6delG
-
CYBB_000149
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat2
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.8dup
r.(?)
p.(Asn3LysfsTer6)
Unknown
-
pathogenic (recessive)
g.37639338dup
g.37780085dup
8dupA
-
CYBB_000150
-
PubMed: Wolach 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
-
PubMed: Wolach 2017
family, 1 affected
M
-
Israel
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.11G>A
r.(?)
p.(Trp4Ter)
Unknown
-
pathogenic (recessive)
g.37639341G>A
g.37780088G>A
-
-
CYBB_000151
-
PubMed: Raptaki 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
PatA
PubMed: Raptaki 2013
-
M
-
Greece
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.12G>A
r.(?)
p.(Trp4Ter)
Maternal (inferred)
-
pathogenic (recessive)
g.37639342G>A
g.37780089G>A
24G>A
-
CYBB_000152
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0108
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.25G>A
r.(?)
p.(Gly9Arg)
Maternal (confirmed)
-
pathogenic (recessive)
g.37639355G>A
g.37780102G>A
-
-
CYBB_000153
-
PubMed: Wang 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat47
PubMed: Wang 2019
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.27dup
r.(?)
p.(Leu10AlafsTer25)
Maternal (confirmed)
-
pathogenic (recessive)
g.37639357dup
g.37780104dup
27dupG
-
CYBB_000154
-
PubMed: Ko 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
FamPat2a
PubMed: Ko 2014
family, 2 affected maternal cousins
M
-
Korea
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.27dup
r.(?)
p.(Leu10AlafsTer25)
Maternal (confirmed)
-
pathogenic (recessive)
g.37639357dup
g.37780104dup
27dupG
-
CYBB_000154
-
PubMed: Ko 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
FamPat2b
PubMed: Ko 2014
cousin
M
-
Korea
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.34A>C
r.(?)
p.(Ile12Leu)
Parent #1
-
likely benign
g.37639364A>C
g.37780111A>C
-
-
CYBB_000094
10 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs797044560
Germline
-
10/2638 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
10
Mohammed Faruq
+/.
1i
c.45+1G>A
r.spl
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.37639376G>A
g.37780123G>A
-
-
CYBB_000155
-
PubMed: Wang 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat6
PubMed: Wang 2019
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+1G>A
del exon 11?
p.?
Unknown
-
pathogenic (recessive)
g.37639376G>A
g.37780123G>A
-
-
CYBB_000155
-
PubMed: Zhou 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat123
PubMed: Zhou 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+1G>A
r.spl
p.?
Unknown
-
pathogenic (recessive)
g.37639376G>A
g.37780123G>A
-
-
CYBB_000155
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat102
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+1G>C
r.0?
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.37639376G>C
g.37780123G>C
-
-
CYBB_000133
-
PubMed: Ko 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
FamPat22a
PubMed: Ko 2014
family, identical twins
M
-
Korea
-
-
-
-
-
2
Johan den Dunnen
+/.
1i
c.45+1G>C
r.0?
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.37639376G>C
g.37780123G>C
-
-
CYBB_000133
-
PubMed: Ko 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
FamPat22b
PubMed: Ko 2014
twin
M
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+1G>C
r.0
p.0
Unknown
-
pathogenic (recessive)
g.37639376G>C
-
-
-
CYBB_000133
-
PubMed: Roesler 1999
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
CGDX
PatCP2
PubMed: Roesler 1999
-
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+2del
r.spl
p.0?
Unknown
-
pathogenic (recessive)
g.37639377del
g.37780124del
45+2delT
-
CYBB_000156
-
PubMed: Wang 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat41
PubMed: Wang 2019
patient
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+3A>T
r.spl
p.?
Unknown
-
pathogenic (recessive)
g.37639378A>T
g.37780125A>T
-
-
CYBB_000157
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat103
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+3_45+5delinsTA
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.37639378_37639380delinsTA
g.37780125_37780127delinsTA
45+3A>T+5delG
-
CYBB_000158
-
PubMed: Martel 2012
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
CGD
Pat1
PubMed: Martel 2012
2-generation family, heterozygous carrier mother
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+4A>C
r.spl
p.?
Unknown
-
pathogenic (recessive)
g.37639379A>C
g.37780126A>C
-
-
CYBB_000160
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat104
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+4A>G
del exon 1?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.37639379A>G
g.37780126A>G
-
-
CYBB_000159
-
PubMed: Zhou 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat24
PubMed: Zhou 2018
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.45+5G>A
r.spl?
p.?
Unknown
-
likely pathogenic
g.37639380G>A
g.37780127G>A
CYBB(NM_000397.4):c.45+5G>A
-
CYBB_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1i
c.45+5G>T
r.spl?
p.(?)
Unknown
-
pathogenic (recessive)
g.37639380G>T
g.37780127G>T
-
-
CYBB_000161
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat105
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+6T>C
r.=|<1
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.37639381T>C
g.37780128T>C
IVS1+6T>C
-
CYBB_000162
-
PubMed: Rae 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ, SSCA
-
-
CGD
A0134
PubMed: Rae 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.45+907_45+908ins[KJ027511:g.1_5839inv;AGTCTTTGAGTTTT]
r.45_46ins[KJ027511.1:g.597_703inv]
p.Ile25_Leu26ins*2
Maternal (confirmed)
-
pathogenic (recessive)
g.37640282_37640283ins[KJ027511.1:g.1_5839inv;GAGTCTTTGAGTTTT]
g.37781029_37781030ins[KJ027511.1:g.1_5839inv;GAGTCTTTGAGTTTT]
-
-
CYBB_000121
-
PubMed: De Boer 2014
-
-
Germline
-
-
-
-
-
DNA, RNA
PCR, RT-PCR, SEQ
-
-
CGDX
patient
PubMed: De Boer 2014
2-generation family, 1 affected, unaffected carrier mother
M
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
2i
c.46-2A>G
r.46_141del
p.Leu16Gly47del
Maternal (confirmed)
-
pathogenic (recessive)
g.37641339A>G
g.37782086A>G
IVS1-2A>G
-
CYBB_000163
-
PubMed: Xu 2014
,
PubMed: Wu 2017
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
CGD
Pat21
PubMed: Xu 2014
,
PubMed: Wu 2017
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.46-2A>G
r.(46_141del)
p.(Leu16_Gly47del)
Unknown
-
pathogenic (recessive)
g.37641339A>G
g.37782086A>G
-
-
CYBB_000163
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat106
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.46-2A>G
r.(46_141del)
p.(Leu16_Gly47del)
Unknown
-
pathogenic (recessive)
g.37641339A>G
g.37782086A>G
-
-
CYBB_000163
-
PubMed: Gao 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat107
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.46-1G>A
r.(46_141del)
p.(Leu16_Gly47del)
Maternal (confirmed)
-
pathogenic (recessive)
g.37641340G>A
g.37782087G>A
-
-
CYBB_000130
-
PubMed: Zhou 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CGD
Pat90
PubMed: Zhou 2018
2-generation family, 1 affected, unaffected heterozygous carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
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