Global Variome shared LOVD
CUL4B (cullin 4B)
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The variants shown are described using the NM_003588.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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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
all entries beginning with 'p.(Arg'
$
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
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!
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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How to query
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-?/.
-
c.26G>A
r.(?)
p.(Gly9Glu)
Unknown
-
likely benign
g.119708447C>T
g.120574592C>T
CUL4B(NM_003588.3):c.26G>A (p.G9E, p.(Gly9Glu))
-
CUL4B_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.26G>A
r.(?)
p.(Gly9Glu)
Unknown
-
likely benign
g.119708447C>T
g.120574592C>T
CUL4B(NM_003588.3):c.26G>A (p.G9E, p.(Gly9Glu))
-
CUL4B_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.26G>A
r.(?)
p.(Gly9Glu)
Unknown
-
likely benign
g.119708447C>T
g.120574592C>T
CUL4B(NM_003588.3):c.26G>A (p.G9E, p.(Gly9Glu))
-
CUL4B_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.65G>A
r.(?)
p.(Gly22Asp)
Unknown
-
likely benign
g.119708408C>T
g.120574553C>T
CUL4B(NM_003588.3):c.65G>A (p.G22D)
-
CUL4B_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2i
c.68-5940_68-193del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.119694673_119700420del
g.120560818_120566565del
hg18 chrX:g.119578701_119584448del
-
CUL4B_000022
variant does not affect the gene, but qPCR revealed a complete loss of CUL4B expression
Vulto-van Silfhout, submitted
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ-NG
-
-
MRXSC
-
-
-
-
-
-
-
-
-
-
-
1
Anneke Vulto-van Silfhout
+/.
2i
c.68-5940_68-193del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.119694673_119700420del
g.120560818_120566565del
hg18 chrX:g.119578701_119584448del
-
CUL4B_000022
complete loss RNA expression patient LCLs, CUL4A expression unchanged
PubMed: Wibley 2010
-
-
Germline
yes
-
-
-
-
DNA, RNA
arrayCGH, PCR, RT-PCR, SEQ
LCL
-
MRX;IDX
-
PubMed: Wibley 2010
4-generation family, 7 affecteds, unafected carrier females
M
no
-
-
-
-
-
-
7
Johan den Dunnen
-?/.
-
c.87C>T
r.(?)
p.(Pro29=)
Unknown
-
likely benign
g.119694461G>A
-
CUL4B(NM_003588.3):c.87C>T (p.P29=)
-
CUL4B_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.149C>T
r.(?)
p.(Pro50Leu)
Maternal (confirmed)
-
pathogenic
g.119694399G>A
g.120560544G>A
-
-
CUL4B_000013
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
MRXSC
-
-
-
-
-
-
-
-
-
-
-
2
Anneke Vulto-van Silfhout
?/.
-
c.193A>G
r.(?)
p.(Ser65Gly)
Unknown
-
VUS
g.119694355T>C
-
CUL4B(NM_003588.3):c.193A>G (p.S65G)
-
CUL4B_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.194_202del
r.(?)
p.(Ser65_Ser67del)
Unknown
-
likely benign
g.119694356_119694364del
g.120560501_120560509del
CUL4B(NM_001079872.1):c.140_148del (p.(Ser47_Ser49del)), CUL4B(NM_003588.3):c.194_202delGCAGCAGTA (p.S65_S67del)
-
CUL4B_000071
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.194_202del
r.(?)
p.(Ser65_Ser67del)
Unknown
-
benign
g.119694356_119694364del
g.120560501_120560509del
CUL4B(NM_001079872.1):c.140_148del (p.(Ser47_Ser49del)), CUL4B(NM_003588.3):c.194_202delGCAGCAGTA (p.S65_S67del)
-
CUL4B_000071
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.373C>G
r.(?)
p.(Leu125Val)
Unknown
-
likely benign
g.119694175G>C
g.120560320G>C
CUL4B(NM_003588.3):c.373C>G (p.L125V)
-
CUL4B_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.429_431del
r.(?)
p.(Ser146del)
Unknown
-
likely benign
g.119694134_119694136del
g.120560279_120560281del
CUL4B(NM_003588.3):c.429_431delCTC (p.S146del)
-
CUL4B_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.429_431dup
r.(?)
p.(Ser146dup)
Unknown
-
likely pathogenic
g.119694134_119694136dup
g.120560279_120560281dup
-
-
CUL4B_000010
-
PubMed: Tzschach 2015
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
Pat14
PubMed: Tzschach 2015
-
M
-
Turkey
?
-
-
-
-
1
Andreas Tzschach
+/.
3
c.481_482del
r.(?)
p.(Ser161Tyrfs*24)
Maternal (confirmed)
-
pathogenic
g.119694068_119694069del
g.120560213_120560214del
-
-
CUL4B_000014
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
MRXSC
-
-
-
-
-
-
-
-
-
-
-
2
Anneke Vulto-van Silfhout
./.
-
c.481_482del
r.(?)
p.(Ser161Tyrfs*24)
Maternal (confirmed)
-
pathogenic
g.119694068_119694069del
g.120560213_120560214del
CUL4B S143Yfs*24
-
CUL4B_000059
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamD287
PubMed: Hu 2016
family, 2 affected, 3 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.488T>A
r.(?)
p.(Leu163*)
Unknown
-
likely pathogenic
g.119694060A>T
g.120560205A>T
-
-
CUL4B_000083
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
565 gene panel
ID
UK10K_FINDWGA5411451
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
?/?
4
c.638C>T
r.(?)
p.(Thr213Ile)
Parent #1
-
VUS
g.119691867G>A
g.120558012G>A
-
-
CUL4B_000007
found once, non-recurrent change
PubMed: Tarpey 2009
-
-
Germline
?
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377139-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+?/.
-
c.750C>A
r.(?)
p.(Tyr250Ter)
Unknown
-
likely pathogenic
g.119681071G>T
g.120547216G>T
-
-
CUL4B_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.801C>T
r.(?)
p.(His267=)
Unknown
-
likely benign
g.119681020G>A
-
CUL4B(NM_003588.3):c.801C>T (p.H267=)
-
CUL4B_000087
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.809del
r.(?)
p.(Ala270Aspfs*17)
Maternal (confirmed)
-
pathogenic
g.119681012del
g.120547157del
CUL4B A252Dfs*17
-
CUL4B_000058
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamT131
PubMed: Hu 2016
family, 2 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.811_812del
r.(?)
p.(Gln271Aspfs*11)
Maternal (confirmed)
-
pathogenic (recessive)
g.119681011_119681012del
g.120547156_120547157del
-
-
CUL4B_000074
-
PubMed: Redin 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
226-gene ID panel
ID
APN-137
PubMed: Redin 2014
analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother
M
-
France
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.817C>A
r.(?)
p.(His273Asn)
Unknown
-
likely benign
g.119681004G>T
g.120547149G>T
CUL4B(NM_003588.3):c.817C>A (p.H273N)
-
CUL4B_000044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.817C>G
r.(?)
p.(His273Asp)
Unknown
-
VUS
g.119681004G>C
g.120547149G>C
CUL4B(NM_001079872.1):c.763C>G (p.(His255Asp))
-
CUL4B_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.830+11dup
r.(=)
p.(=)
Unknown
-
likely benign
g.119680984dup
g.120547129dup
CUL4B(NM_003588.3):c.830+11dupT
-
CUL4B_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.830+12A>T
r.(=)
p.(=)
Unknown
-
likely benign
g.119680979T>A
g.120547124T>A
CUL4B(NM_003588.3):c.830+12A>T
-
CUL4B_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.831-12C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.119680483G>A
g.120546628G>A
CUL4B(NM_003588.3):c.831-12C>T
-
CUL4B_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.846C>T
r.(?)
p.(Ser282=)
Unknown
-
likely benign
g.119680456G>A
-
CUL4B(NM_003588.3):c.846C>T (p.S282=)
-
CUL4B_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.846C>T
r.(?)
p.(Ser282=)
Unknown
-
likely benign
g.119680456G>A
-
CUL4B(NM_003588.3):c.846C>T (p.S282=)
-
CUL4B_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.857dup
r.(?)
p.(Leu286Phefs*5)
Unknown
-
likely pathogenic
g.119680445dup
g.120546590dup
-
-
CUL4B_000082
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
565 gene panel
ID
UK10K_FINDWGA5410685
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.867T>C
r.(?)
p.(Ile289=)
Unknown
-
likely benign
g.119680435A>G
g.120546580A>G
CUL4B(NM_003588.3):c.867T>C (p.I289=)
-
CUL4B_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.901-10del
r.(=)
p.(=)
Unknown
-
benign
g.119679390del
g.120545535del
CUL4B(NM_003588.3):c.901-10delT
-
CUL4B_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.923dup
r.(?)
p.(Leu308PhefsTer5)
Unknown
-
likely pathogenic
g.119679356dup
g.120545501dup
-
-
CUL4B_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.949C>T
r.(?)
p.(Gln317Ter)
Unknown
-
pathogenic
g.119679324G>A
g.120545469G>A
-
-
CUL4B_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.964C>T
r.(?)
p.(Pro322Ser)
Unknown
-
VUS
g.119679309G>A
g.120545454G>A
-
-
CUL4B_000070
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1003C>T
r.(?)
p.(His335Tyr)
Unknown
-
likely benign
g.119678470G>A
g.120544615G>A
CUL4B(NM_003588.3):c.1003C>T (p.H335Y)
-
CUL4B_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
8
c.1007_1011del
r.(?)
p.(Ile336Lysfs*2)
Parent #1
-
VUS
g.119678465_119678469del
g.120544610_120544614del
1007_1011delTTATA
-
CUL4B_000001
found once, non-recurrent change
PubMed: Tarpey 2009
-
-
Germline
?
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377133-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
8
c.1007_1011del
r.(?)
p.(Ile336Lysfs*2)
Maternal (confirmed)
-
pathogenic
g.119678465_119678469del
g.120544610_120544614del
-
-
CUL4B_000001
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
MRXSC
-
-
-
M
-
-
-
-
-
-
-
1
Anneke Vulto-van Silfhout
./.
-
c.1007_1011del
r.(?)
p.(Ile336Lysfs*2)
Maternal (confirmed)
-
pathogenic
g.119678465_119678469del
g.120544610_120544614del
CUL4B I318Kfs*2
-
CUL4B_000057
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamN146
PubMed: Hu 2016
family, 2 affected, 1 unaffected heterozygous carrier female
M
-
-
-
-
-
-
-
2
Johan den Dunnen
+?/.
8
c.1007_1011del
r.(?)
p.(Ile336LysfsTer2)
Unknown
-
likely pathogenic
g.119678465_119678469del
g.120544610_120544614del
-
-
CUL4B_000001
-
PubMed: Ganapathy 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-2427
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.1138-38C>T
r.(=)
p.(=)
Unknown
-
benign
g.119678096G>A
g.120544241G>A
CUL4B(NM_003588.3):c.1138-38C>T
-
CUL4B_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1139T>G
r.(?)
p.(Ile380Ser)
Unknown
-
likely benign
g.119678057A>C
g.120544202A>C
CUL4B(NM_003588.3):c.1139T>G (p.I380S)
-
CUL4B_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
9
c.1162C>T
r.(?)
p.(Arg388*)
Parent #1
-
VUS
g.119678034G>A
g.120544179G>A
-
-
CUL4B_000002
found once, non-recurrent change
PubMed: Tarpey 2009
-
-
Germline
?
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377134-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
9
c.1162C>T
r.(?)
p.(Arg388*)
Parent #1
ACMG
pathogenic
g.119678034G>A
g.120544179G>A
-
-
CUL4B_000002
-
PubMed: TumienÄ— 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
?
29286531-Pat17
PubMed: TumienÄ— 2018
-
-
-
(Slovenia)
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.1162C>T
r.(?)
p.(Arg388Ter)
Unknown
-
pathogenic
g.119678034G>A
g.120544179G>A
CUL4B(NM_003588.4):c.1162C>T (p.R388*)
-
CUL4B_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1258C>G
r.(?)
p.(Arg420Gly)
Maternal (confirmed)
ACMG
likely pathogenic (recessive)
g.119677634G>C
g.120543779G>C
-
-
CUL4B_000076
-
PubMed: Helbig 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
seizures
Pat29
PubMed: Helbig 2016
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.1293_1296del
r.(?)
p.(Tyr431Ter)
Unknown
-
likely pathogenic
g.119677603_119677606del
g.120543748_120543751del
CUL4B(NM_003588.4):c.1293_1296delCTTA (p.Y431*)
-
CUL4B_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1311-19T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.119676907A>G
g.120543052A>G
CUL4B(NM_003588.3):c.1311-19T>C
-
CUL4B_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.1311-9del
r.(=)
p.(=)
Unknown
-
benign
g.119676907del
g.120543052del
CUL4B(NM_003588.3):c.1311-9delT
-
CUL4B_000034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.1378+15G>A
r.(=)
p.(=)
Unknown
-
benign
g.119676806C>T
g.120542951C>T
CUL4B(NM_003588.3):c.1378+15G>A
-
CUL4B_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1423del
r.(?)
p.(Leu475Phefs*32)
Maternal (confirmed)
ACMG
likely pathogenic (recessive)
g.119675531del
g.120541676del
1422_1423delinsT
-
CUL4B_000092
ACMG PVS1, PM2_SUP; mother heterozygous carrier
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
MRXSC
203088
-
-
M
no
Germany
-
-
-
-
-
1
Andreas Laner
./.
-
c.1450C>T
r.(?)
p.(Arg484*)
Maternal (confirmed)
-
pathogenic
g.119675504G>A
g.120541649G>A
CUL4B R466*
-
CUL4B_000056
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamP194
PubMed: Hu 2016
family, 2 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
12
c.1450C>T
r.(?)
p.(Arg484*)
Unknown
ACMG
pathogenic
g.119675504G>A
g.120541649G>A
-
-
CUL4B_000056
-
-
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG-IT
Blood
whole exome sequencing
LFIT2, MRXSC, SOPH
ED2150
Ritelli et al., 2020 submitted
-
M
no
Italy
-
-
-
-
-
1
Marco Ritelli
+?/.
-
c.1450C>T
r.(?)
p.(Arg484*)
Unknown
-
likely pathogenic
g.119675504G>A
g.120541649G>A
-
-
CUL4B_000056
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
565 gene panel
ID
UK10K_FINDWGA5410803
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1451_1462del
r.(?)
p.(Arg484_Val487del)
Unknown
-
VUS
g.119675498_119675509del
g.120541643_120541654del
-
-
CUL4B_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1482G>A
r.(?)
p.(Trp494*)
Unknown
-
likely pathogenic
g.119675472C>T
g.120541617C>T
-
-
CUL4B_000081
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
565 gene panel
ID
UK10K_FINDWGA5411038
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.1497+76C>T
r.(=)
p.(=)
Unknown
-
benign
g.119675381G>A
g.120541526G>A
CUL4B(NM_003588.3):c.1497+76C>T
-
CUL4B_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.1497+102del
r.(=)
p.(=)
Unknown
-
benign
g.119675367del
g.120541512del
CUL4B(NM_003588.3):c.1497+102delT
-
CUL4B_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1599C>T
r.(?)
p.(Cys533=)
Unknown
-
likely benign
g.119674316G>A
g.120540461G>A
CUL4B(NM_003588.3):c.1599C>T (p.C533=)
-
CUL4B_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
14
c.1714C>T
r.(?)
p.(Arg572Cys)
Parent #1
-
VUS
g.119673204G>A
g.120539349G>A
-
-
CUL4B_000003
found once, non-recurrent change
PubMed: Tarpey 2009
-
-
Germline
?
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377135-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+?/.
-
c.1728del
r.(?)
p.(Glu577LysfsTer15)
Unknown
-
likely pathogenic
g.119673192del
g.120539337del
CUL4B(NM_003588.3):c.1728del (p.(Glu577LysfsTer15))
-
CUL4B_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1776C>T
r.(?)
p.(Ile592=)
Unknown
-
likely benign
g.119673142G>A
g.120539287G>A
CUL4B(NM_003588.3):c.1776C>T (p.I592=)
-
CUL4B_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1851C>T
r.(?)
p.(Val617=)
Unknown
-
likely benign
g.119672570G>A
-
CUL4B(NM_003588.3):c.1851C>T (p.V617=)
-
CUL4B_000086
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.1858_1860dup
r.(?)
p.(Ser620dup)
Maternal (confirmed)
-
pathogenic
g.119672561_119672563dup
g.120538706_120538708dup
CUL4B insGCA S603_D604insA
-
CUL4B_000055
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamP142
PubMed: Hu 2016
family, 2 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
15
c.1860_1862dup
r.(?)
p.(Ala621dup)
Maternal (confirmed)
-
pathogenic
g.119672559_119672561dup
g.120538704_120538706dup
-
-
CUL4B_000019
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
MRXSC
-
-
-
M
-
(France)
-
-
-
-
-
3
Anneke Vulto-van Silfhout
+?/.
-
c.1906+1G>A
r.spl
p.?
Maternal (inferred)
ACMG
likely pathogenic
g.119672514C>T
g.120538659C>T
-
-
CUL4B_000075
-
PubMed: Helbig 2016
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG
-
WES
seizures
Pat28
PubMed: Helbig 2016
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
15i
c.1906+1G>T
r.1796_1906del
p.Gly599_His635del
Maternal (confirmed)
-
pathogenic
g.119672514C>A
g.120538659C>A
-
-
CUL4B_000016
-
-
-
-
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
-
MRXSC
-
-
-
M
-
-
-
-
-
-
-
1
Anneke Vulto-van Silfhout
./.
-
c.1906+1G>T
r.spl?
p.?
Maternal (confirmed)
-
pathogenic
g.119672514C>A
g.120538659C>A
CUL4B splice donor
-
CUL4B_000016
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamD102
PubMed: Hu 2016
family, 2 affected, 1 unaffected heterozygous carrier female
M
-
-
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.1911C>T
r.(?)
p.(Cys637=)
Unknown
-
likely benign
g.119672060G>A
g.120538205G>A
CUL4B(NM_003588.3):c.1911C>T (p.C637=), CUL4B(NM_003588.4):c.1911C>T (p.C637=)
-
CUL4B_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1911C>T
r.(?)
p.(Cys637=)
Unknown
-
likely benign
g.119672060G>A
g.120538205G>A
CUL4B(NM_003588.3):c.1911C>T (p.C637=), CUL4B(NM_003588.4):c.1911C>T (p.C637=)
-
CUL4B_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1993-5T>C
r.spl?
p.?
Unknown
-
likely benign
g.119670894A>G
g.120537039A>G
CUL4B(NM_003588.3):c.1993-5T>C
-
CUL4B_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.2016G>A
r.(?)
p.(Pro672=)
Unknown
-
likely benign
g.119670866C>T
-
CUL4B(NM_003588.3):c.2016G>A (p.P672=)
-
CUL4B_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
17
c.2060G>A
r.(?)
p.(Trp687*)
Maternal (confirmed)
-
pathogenic
g.119670822C>T
g.120536967C>T
-
-
CUL4B_000009
-
PubMed: Tzschach 2015
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
Fam6
PubMed: Tzschach 2015
2-generation family, 2 affected brothers, unaffected heterozygous carrier mother
M
-
? (unknown)
?
-
-
-
-
2
Andreas Tzschach
+/.
-
c.2061G>A
r.(?)
p.(Trp687Ter)
Unknown
-
pathogenic
g.119670821C>T
g.120536966C>T
CUL4B(NM_003588.4):c.2061G>A (p.W687*)
-
CUL4B_000063
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.2100+6A>C
r.(=)
p.(=)
Unknown
-
likely benign
g.119670776T>G
-
CUL4B(NM_003588.3):c.2100+6A>C
-
CUL4B_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.2193_2194del
r.(?)
p.(Leu732Lysfs*5)
Both (homozygous)
-
pathogenic
g.119669710_119669711del
g.120535855_120535856del
2193_2194delGT
-
CUL4B_000050
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
M
-
(Germany)
-
-
-
-
-
1
IMGAG
?/.
18i
c.2214+101_2214+102del
r.(=)
p.(=)
Unknown
-
VUS
g.119669584_119669585del
g.120535729_120535730del
-
-
CUL4B_000012
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
?/.
18i
c.2214+101_2214+104del
r.(=)
p.(=)
Unknown
-
VUS
g.119669583_119669586del
g.120535728_120535731del
-
-
CUL4B_000011
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
-
c.2215-15T>G
r.(=)
p.(=)
Unknown
-
likely benign
g.119668456A>C
g.120534601A>C
CUL4B(NM_003588.3):c.2215-15T>G
-
CUL4B_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.2215-2A>G
r.spl
p.?
Unknown
-
likely pathogenic
g.119668443T>C
g.120534588T>C
-
-
CUL4B_000080
-
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
565 gene panel
ID
UK10K_FINDWGA5411353
PubMed: Grozeva 2015
,
Journal: Grozeva 2015
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
?/?
19
c.2234T>C
r.(?)
p.(Val745Ala)
Parent #1
-
VUS
g.119668422A>G
g.120534567A>G
-
-
CUL4B_000004
found once, non-recurrent change
PubMed: Tarpey 2009
-
-
Germline
?
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377136-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
?/.
-
c.2287A>G
r.(?)
p.(Ser763Gly)
Unknown
-
VUS
g.119668369T>C
g.120534514T>C
CUL4B(NM_003588.3):c.2287A>G (p.S763G)
-
CUL4B_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.2320+6T>C
r.(=)
p.(=)
Unknown
-
VUS
g.119668330A>G
-
CUL4B(NM_003588.3):c.2320+6T>C
-
CUL4B_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.2320+113del
r.(=)
p.(=)
Unknown
-
benign
g.119668232del
g.120534377del
CUL4B(NM_003588.3):c.2320+113delT
-
CUL4B_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.2320+123del
r.(=)
p.(=)
Unknown
-
benign
g.119668221del
g.120534366del
CUL4B(NM_003588.3):c.2320+123delT
-
CUL4B_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
20
c.2353_2355del
r.(?)
p.(Leu785del)
Maternal (confirmed)
-
pathogenic
g.119666416_119666418del
g.120532561_120532563del
-
-
CUL4B_000020
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
MRXSC
-
-
-
M
?
Germany
-
-
-
yes
-
3
Anneke Vulto-van Silfhout
./.
-
c.2353_2355del
r.(?)
p.(Leu785del)
Maternal (confirmed)
-
pathogenic
g.119666416_119666418del
g.120532561_120532563del
CUL4B L767del12
-
CUL4B_000054
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamD112
PubMed: Hu 2016
family, 3 affected, 2 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
3
Johan den Dunnen
+/.
20
c.2361dup
r.(?)
p.(Gly788Trpfs*4)
Maternal (confirmed)
-
pathogenic
g.119666410dup
-
-
-
CUL4B_000017
Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message.
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
MRXSC
-
-
-
-
-
-
-
-
-
-
-
1
Anneke Vulto-van Silfhout
./.
-
c.2361dup
r.(?)
p.(Gly788Trpfs*4)
Maternal (confirmed)
-
pathogenic
g.119666409dup
g.120532554dup
CUL4B insA G770Wfs*4
-
CUL4B_000017
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamD203
PubMed: Hu 2016
family, 3 affected, 3 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
3
Johan den Dunnen
+?/.
20
c.2469C>G
r.(?)
p.(Ile823Met)
Maternal (confirmed)
-
likely pathogenic
g.119666301G>C
g.120532446G>C
-
-
CUL4B_000008
-
PubMed: Tzschach 2015
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
Fam5
PubMed: Tzschach 2015
2-generation family, affected boy and maternal uncle, unaffected heterozygous carrier mother/grandmother
M
-
? (unknown)
?
-
-
-
-
2
Andreas Tzschach
?/?
20
c.2493G>A
r.(spl?)
p.(=)
Parent #1
-
VUS
g.119666277C>T
g.120532422C>T
T831T
-
CUL4B_000005
found once, non-recurrent change
PubMed: Tarpey 2009
-
-
Germline
?
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377137-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
20i
c.2493+3A>G
r.[2414_2493del, 2429_2493del]
p.Asp806*; p.Asn811*
Maternal (confirmed)
-
pathogenic
g.119666274T>C
g.120532419T>C
-
-
CUL4B_000018
-
-
-
-
Germline
yes
-
-
-
-
DNA, RNA
RT-PCR, SEQ, SEQ-NG
-
-
MRXSC
-
-
-
M
-
-
-
-
-
-
-
1
Anneke Vulto-van Silfhout
-?/.
-
c.2493+7C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.119666270G>A
g.120532415G>A
CUL4B(NM_003588.3):c.2493+7C>T
-
CUL4B_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.2494-5G>T
r.spl?
p.?
Unknown
-
likely benign
g.119664114C>A
g.120530259C>A
CUL4B(NM_003588.3):c.2494-5G>T
-
CUL4B_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
21
c.2507C>T
r.(?)
p.(Ala836Val)
Unknown
-
VUS
g.119664096G>A
g.120530241G>A
-
-
CUL4B_000085
-
PubMed: Ganapathy 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-2834
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.2538_2541del
r.(?)
p.(Arg846SerfsTer12)
Both (homozygous)
ACMG
pathogenic (recessive)
g.119664068_119664071del
g.120530213_120530216del
-
-
CUL4B_000089
-
PubMed: Hu 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ID
M8600013
PubMed: Hu 2019
family, 3 affected individuals, first cousin parents
-
yes
-
Turkmenistan
-
-
-
-
3
Johan den Dunnen
?/?
21
c.2566C>T
r.(?)
p.(Arg856*)
Parent #1
-
VUS
g.119664037G>A
g.120530182G>A
-
-
CUL4B_000006
found once, non-recurrent change
PubMed: Tarpey 2009
-
-
Germline
?
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377138-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
21
c.2590_2593del
r.(?)
p.(Leu864Alafs*13)
Maternal (confirmed)
-
pathogenic
g.119664011_119664014del
g.120530156_120530159del
-
-
CUL4B_000021
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
MRXSC
-
-
-
M
no
Netherlands
white
-
-
yes
-
3
Anneke Vulto-van Silfhout
+/.
21
c.2626C>T
r.(?)
p.(Gln876*)
Maternal (confirmed)
-
pathogenic
g.119663977G>A
g.120530122G>A
-
-
CUL4B_000015
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
MRXSC
-
-
-
-
-
-
-
-
-
-
-
1
Anneke Vulto-van Silfhout
-?/.
-
c.2712A>G
r.(?)
p.(Glu904=)
Unknown
-
likely benign
g.119660646T>C
g.120526791T>C
CUL4B(NM_003588.3):c.2712A>G (p.E904=)
-
CUL4B_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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