Global Variome shared LOVD
CDKL5 (cyclin-dependent kinase-like 5)
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The variants shown are described using the NM_003159.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
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
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>=
Date
>=2020-06-15
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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
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Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-/.
-
c.-163+16516G>C
r.(=)
p.(=)
Parent #1
-
benign
g.18460331G>C
g.18442211G>C
-
-
CDKL5_000082
Seg.analysis
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-/.
-
c.-162-5T>C
r.spl?
p.?
Unknown
-
benign
g.18525050T>C
g.18506930T>C
CDKL5(NM_001037343.1):c.-162-5T>C
-
CDKL5_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1i
c.-162-?_99+?del
r.-162_99del
p.0?
Parent #1
-
pathogenic
g.21857692_21861312del
g.21839574_21843194del
delex1-2
-
CDKL5_000041
-
PubMed: Russo 2009
-
-
Germline
-
-
-
-
-
DNA, RNA
MLPA, RT-PCR, SEQ
-
-
Rett syndrome
19377263-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
19i_
c.(2797+1243_2798-1)_*85{0}
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(18665453_18674772)_(18779695_18797127)del
g.(18647333_18656652)_(18761577_18779009)del
-
-
RS1_000123
136 kb deletion from PPEF intron 9 to RS1 intron 3 also involving CDKL5 (STK9)
PubMed: Huopaniemi
-
-
Germline
yes
-
-
-
-
DNA
PCR, Southern
-
-
RS1
FamRS315
PubMed: Huopaniemi 2000
family, 2 affected sibs
M
no
Denmark
-
-
-
-
-
2
Johan den Dunnen
?/.
11i
c.978--42_978-50del
r.(spl?)
p.?
Parent #1
-
VUS
g.?
-
IVS11-42_50del9bp
-
CDKL5_000027
unclassified variant
PubMed: Archer 2006
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
DEE2
19377330-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
-
c.?
r.?
p.?
Parent #1
-
VUS
g.?
-
-
-
USP9X_000005
-
PubMed: Sanchis-Juan 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WGS
?
Pat4
PubMed: Sanchis-Juan 2018
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.59G>A
r.(?)
p.(Gly20Asp)
Unknown
-
likely pathogenic
g.18525275G>A
g.18507155G>A
-
-
CDKL5_000123
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2i
c.64+2del
r.spl?
p.?
Parent #1
-
pathogenic
g.18525282del
g.18507162del
-
-
CDKL5_000009
-
PubMed: Bahi-Buisson
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377290-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
-?/.
-
c.64+4A>G
r.spl?
p.?
Unknown
-
likely benign
g.18525284A>G
-
CDKL5(NM_001323289.2):c.64+4A>G
-
RS1_000514
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.65-86A>G
r.(=)
p.(=)
Unknown
-
benign
g.18528854A>G
g.18510734A>G
CDKL5(NM_001037343.1):c.65-86A>G
-
CDKL5_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.71A>G
r.(?)
p.(Tyr24Cys)
Unknown
-
likely pathogenic
g.18528946A>G
-
-
-
RS1_000414
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.73G>A
r.(?)
p.(Gly25Arg)
Unknown
-
pathogenic
g.18528948G>A
g.18510828G>A
-
-
CDKL5_000171
variants reported seperately, unknown if mono-allelic or bi-allelic
PubMed: Retterer 2016
-
-
Unknown
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
-
PubMed: Retterer 2016
analysis proband (1/3040); possible combination of variants not reported
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.93A>G
r.(?)
p.(Arg31=)
Unknown
-
likely benign
g.18528968A>G
-
CDKL5(NM_001323289.1):c.93A>G (p.R31=)
-
RS1_000409
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.99+7A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.18528981A>G
g.18510861A>G
CDKL5(NM_001037343.1):c.99+7A>G (p.(=))
-
RS1_000245
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
3i
c.99+29T>G
r.(=)
p.(=)
Parent #1
-
benign
g.21861340T>G
g.21843222T>G
-
-
CDKL5_000063
-
PubMed: Russo 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
19377291-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
3i_14i
c.100-14734_2153-308dup
r.?
p.?
Unknown
ACMG
pathogenic (recessive)
g.18567863_18630964dup
g.18549743_18612844dup
c.146-14735_2276+3273dup (ex5-15)
-
CDKL5_000169
ACMG PVS1, PS2, PM2, PP3, PP5
PubMed: Ostrander 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WGS
EIEE
Pat7
PubMed: Ostrander 2018
2-generation family, 1 affected, unaffected non-carrier parents
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.100-5119G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.18577478G>A
-
CDKL5(NM_001323289.2):c.100-5119G>A
-
RS1_000515
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.100-7C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.18582590C>T
g.18564470C>T
CDKL5(NM_001037343.1):c.100-7C>T, CDKL5(NM_003159.3):c.100-7C>T
-
CDKL5_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.100-7C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.18582590C>T
g.18564470C>T
CDKL5(NM_001037343.1):c.100-7C>T, CDKL5(NM_003159.3):c.100-7C>T
-
CDKL5_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.104C>T
r.(?)
p.(Thr35Ile)
Unknown
-
pathogenic
g.18582601C>T
g.18564481C>T
-
-
CDKL5_000088
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
F
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
1
Johan den Dunnen
+?/.
-
c.119C>A
r.(?)
p.(Ala40Glu)
Unknown
ACMG
likely pathogenic
g.18582616C>A
g.18564496C>A
-
-
CDKL5_000089
-
PubMed: Trujillano 2017
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
DEE2
-
PubMed: Trujillano 2017
unaffected non-carrier parents
-
-
-
-
-
-
-
-
1
Daniel Trujillano
+/.
4
c.119C>T
r.(?)
p.(Ala40Val)
Unknown
-
pathogenic
g.18582616C>T
g.18564496C>T
-
-
CDKL5_000008
expression cloning protein mislocalized cytoplasm, does not reach nucleus
PubMed: Rosas-Vargas 2008
;
OMIM:var0009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
19377292-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
4
c.119C>T
r.(?)
p.(Ala40Val)
Parent #1
-
pathogenic
g.18582616C>T
g.18564496C>T
-
-
CDKL5_000008
-
PubMed: Rosas-Vargas 2008
;
OMIM:var0009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377279-Pat?
PubMed: Tarpey 2009
unrelated girls
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
4
c.119C>T
r.(?)
p.(Ala40Val)
Parent #1
-
pathogenic
g.18582616C>T
g.18564496C>T
-
-
CDKL5_000008
-
PubMed: Rosas-Vargas 2008
;
OMIM:var0009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377280-Pat?
PubMed: Tarpey 2009
unrelated girls
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+?/.
-
c.119C>T
r.(?)
p.(Ala40Val)
Unknown
ACMG
likely pathogenic
g.18582616C>T
g.18564496C>T
-
-
CDKL5_000008
ACMG PS1, PM1, PM2, PP2, PP3
PubMed: Johannesen 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
candidate gene panel
epilepsy
Pat2
PubMed: Johannesen 2020
-
F
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.145G>A
r.(?)
p.(Glu49Lys)
Parent #1
-
VUS
g.18582642G>A
g.18564522G>A
-
-
CDKL5_000085
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
+/.
4i
c.145+2T>C
r.100_145del
p.Glu34Lysfs*60
Parent #1
-
pathogenic
g.18582644T>C
g.18564524T>C
-
-
CDKL5_000042
-
PubMed: Russo 2009
-
-
De novo
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
Rett syndrome
19377294-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
-/.
4i
c.145+17A>G
r.(?)
p.(=)
Parent #1
-
benign
g.18582659A>G
g.18564539A>G
144+17A>G
-
CDKL5_000012
conserved haplotype 1/32 patients, 2/267 control X-chromosomes
PubMed: Tao 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377295-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
3
Lucy Raymond
-/.
4i
c.145+17A>G
r.(=)
p.(=)
Parent #1
-
benign
g.18582659A>G
g.18564539A>G
144+17A>G
-
CDKL5_000012
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Birgit Neitzel
-?/.
-
c.145+17A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.18582659A>G
g.18564539A>G
CDKL5(NM_003159.2):c.145+17A>G, CDKL5(NM_003159.3):c.145+17A>G
-
CDKL5_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.145+17A>G
r.(=)
p.(=)
Unknown
-
benign
g.18582659A>G
g.18564539A>G
CDKL5(NM_003159.2):c.145+17A>G, CDKL5(NM_003159.3):c.145+17A>G
-
CDKL5_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.145+25_145+28del
r.(=)
p.(=)
Unknown
-
likely benign
g.18582667_18582670del
-
CDKL5(NM_003159.3):c.145+25_145+28delATAT
-
RS1_000225
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
4i
c.145+27_145+28del
r.(=)
p.(=)
Parent #1
-
benign
g.21861384_21861385del
g.21843266_21843267del
145+28ins/delAT
-
CDKL5_000059
-
PubMed: Russo 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
19377296-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
5
Lucy Raymond
?/.
4i
c.145+27_145+28del
r.(?)
p.(=)
Parent #1
-
VUS
g.21861384_21861385del
g.21843266_21843267del
145+27_28delAT
-
CDKL5_000059
unclassified variant
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
-
-
-
-
-
Germany
-
-
-
-
-
1
Birgit Neitzel
?/.
4i
c.145+27_145+28del
r.(?)
p.(=)
Parent #1
-
VUS
g.21861384_21861385del
g.21843266_21843267del
145+27_28delAT
-
CDKL5_000059
unclassified variant
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Birgit Neitzel
?/.
4i
c.145+27_145+28del
r.(?)
p.(=)
Parent #1
-
VUS
g.21861384_21861385del
g.21843266_21843267del
145+27_28delAT
-
CDKL5_000059
unclassified variant
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
-
-
-
-
-
Germany
-
-
-
-
-
1
Birgit Neitzel
?/.
4i
c.145+27_145+28del
r.(?)
p.(=)
Parent #1
-
VUS
g.21861384_21861385del
g.21843266_21843267del
145+27_28delAT
-
CDKL5_000059
unclassified variant
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Birgit Neitzel
-/.
-
c.145+27_145+28del
r.(=)
p.(=)
Unknown
-
benign
g.18582669_18582670del
g.18564549_18564550del
CDKL5(NM_003159.2):c.145+27_145+28delAT, CDKL5(NM_003159.3):c.145+27_145+28delAT
-
CDKL5_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.145+27_145+28del
r.(=)
p.(=)
Unknown
-
benign
g.18582669_18582670del
-
CDKL5(NM_003159.2):c.145+27_145+28delAT, CDKL5(NM_003159.3):c.145+27_145+28delAT
-
CDKL5_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.145+27_145+28dup
r.(=)
p.(=)
Unknown
-
likely benign
g.18582669_18582670dup
g.18564549_18564550dup
CDKL5(NM_001037343.1):c.145+27_145+28dupAT
-
RS1_000226
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.146-1G>A
r.spl?
p.?
Parent #1
-
pathogenic
g.18593473G>A
g.18575353G>A
-
-
CDKL5_000135
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs587783399
Germline
-
1/2792 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+/.
5
c.163_166del
r.(?)
p.(fs*)
Parent #1
-
pathogenic
g.21861375_21861378del
g.21843257_21843260del
163_166delGAAA
-
CDKL5_000057
-
PubMed: Scala 2005
;
OMIM:var0005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377288-Pat?
PubMed: Tarpey 2009
-
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
5
c.175C>T
r.(?)
p.(R59*)
Parent #1
-
pathogenic
g.21861387C>T
g.21843269C>T
-
-
CDKL5_000046
-
PubMed: Archer 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377328-Pat?
PubMed: Tarpey 2009
-
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+?/.
12
c.176G>A
r.(?)
p.(Arg59Gln)
Unknown
-
likely pathogenic (dominant)
g.18593504G>A
g.18575384G>A
-
-
CDKL5_000168
-
PubMed: Nambot 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
PED3650.1
PubMed: Nambot 2018
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+?/.
5
c.176G>C
r.(?)
p.(Arg59Pro)
Unknown
-
likely pathogenic
g.18593504G>C
g.18575384G>C
-
-
CDKL5_000090
-
-
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
EE
47
-
-
-
-
Spain
-
-
-
-
-
1
Iria Otera
+?/.
-
c.178G>A
r.(?)
p.(Glu60Lys)
Maternal (inferred)
ACMG
likely pathogenic
g.18593506G>A
g.18575386G>A
-
-
CDKL5_000151
-
-
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
DEE2
-
-
-
M
no
Slovakia (Slovak Republic)
-
-
-
-
-
1
Andrea Soltysova
-?/.
-
c.180G>A
r.(?)
p.(Glu60=)
Unknown
-
likely benign
g.18593508G>A
-
CDKL5(NM_001323289.1):c.180G>A (p.E60=)
-
RS1_000281
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.183delT
r.(?)
p.(fs*)
Parent #1
-
pathogenic
g.21861396del
g.21843278del
-
-
CDKL5_000010
-
PubMed: Weaving 2004
;
OMIM:var0001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377304-Pat?
PubMed: Tarpey 2009
family, affected twin girls and an affected brother
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
5
c.183delT
r.(?)
p.(fs*)
Parent #1
-
pathogenic
g.21861396del
g.21843278del
-
-
CDKL5_000010
-
PubMed: Weaving 2004
;
OMIM:var0001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377310-Pat?
PubMed: Tarpey 2009
family, affected twin girls and an affected brother
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
5
c.183delT
r.(?)
p.(fs*)
Parent #1
-
pathogenic
g.21861396del
g.21843278del
-
-
CDKL5_000010
-
PubMed: Weaving 2004
;
OMIM:var0001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377284-Pat?
PubMed: Tarpey 2009
family, affected twin girls and an affected brother
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
5
c.194G>A
r.(?)
p.(R65Q)
Parent #1
-
pathogenic
g.21861406G>A
g.21843288G>A
-
-
CDKL5_000011
-
PubMed: Rosas-Vargas 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377298-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
?/.
-
c.194G>A
r.(?)
p.(Arg65Gln)
Unknown
-
VUS
g.18593522G>A
g.18575402G>A
CDKL5(NM_001323289.2):c.194G>A (p.R65Q)
-
CDKL5_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.215T>A
r.(?)
p.(I72N)
Parent #1
-
pathogenic
g.21861427T>A
g.21843309T>A
-
-
CDKL5_000064
-
PubMed: Evans
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Rett syndrome
19377299-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
5
c.215T>C
r.215u>c
p.Ile72Thr
Parent #1
-
pathogenic
g.21861427T>C
g.21843309T>C
-
-
CDKL5_000043
-
PubMed: Russo 2009
-
-
De novo
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
Rett syndrome
19377300-Pat?
PubMed: Tarpey 2009
-
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
5
c.215T>C
r.(?)
p.(I72T)
Parent #1
-
pathogenic
g.21861427T>C
g.21843309T>C
-
-
CDKL5_000043
-
PubMed: Saletti
;
OMIM:var0010
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377281-Pat?
PubMed: Tarpey 2009
-
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
5
c.216T>A
r.(?)
p.(I72I)
Parent #1
-
pathogenic
g.21861428T>A
g.21843310T>A
-
-
CDKL5_000013
-
PubMed: Li
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Rett syndrome
19377301-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
-
c.220G>T
r.(?)
p.(Glu74*)
Parent #1
-
pathogenic
g.18593548G>T
g.18575428G>T
-
-
CDKL5_000136
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs587783073
Germline
-
1/2794 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+/.
5
c.229_232del
r.(?)
p.(Glu77HisfsTer35)
Parent #1
-
pathogenic
g.18593557_18593560del
g.18575437_18575440del
-
-
CDKL5_000014
-
PubMed: Bahi-Buisson
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377302-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
?/.
-
c.239G>T
r.(?)
p.(Arg80Leu)
Unknown
-
VUS
g.18593567G>T
g.18575447G>T
CDKL5(NM_001037343.1):c.239G>T (p.(Arg80Leu))
-
CDKL5_000096
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.250A>T
r.(?)
p.(Lys84*)
Parent #1
-
pathogenic
g.18593578A>T
g.18575458A>T
-
-
CDKL5_000137
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs587783074
Germline
-
1/2767 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+/.
-
c.277G>T
r.(?)
p.(Glu93Ter)
Unknown
-
pathogenic
g.18593605G>T
g.18575485G>T
CDKL5(NM_003159.3):c.277G>T (p.E93*)
-
RS1_000227
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.282+2T>G
r.spl?
p.?
Unknown
-
pathogenic
g.18593612T>G
g.18575492T>G
-
-
CDKL5_000124
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.282+3_282+6del
r.spl?
p.?
Unknown
-
pathogenic
g.18593613_18593616del
g.18575493_18575496del
-
-
CDKL5_000133
-
PubMed: Papuc 2019
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG-I
blood
WES
EE
72404
-
-
M
no
Macedonia
-
-
-
-
-
1
Anaïs Begemann
-?/.
-
c.282+19A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.18593629A>G
g.18575509A>G
CDKL5(NM_001037343.1):c.282+19A>G
-
CDKL5_000132
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.283-103del
r.(=)
p.(=)
Unknown
-
benign
g.18597865del
g.18579745del
CDKL5(NM_001037343.1):c.283-103delA
-
CDKL5_000097
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.283-14T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.18597954T>C
-
CDKL5(NM_001323289.2):c.283-14T>C
-
RS1_000264
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
6
c.352C>T
r.(?)
p.(Q118*)
Parent #1
-
pathogenic
g.18598037C>T
g.18579917C>T
-
-
CDKL5_000015
-
PubMed: Bahi-Buisson
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377303-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
-
c.358_367del
r.(?)
p.(Ile120PhefsTer14)
Unknown
-
pathogenic
g.18598043_18598052del
g.18579923_18579932del
-
-
CDKL5_000158
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
F
-
-
-
-
-
-
-
1
IMGAG
+/.
-
c.374G>A
r.(?)
p.(Trp125*)
Maternal (inferred)
ACMG
pathogenic
g.18598059G>A
g.18579939G>A
-
-
CDKL5_000152
-
-
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
DEE2
-
-
-
M
no
Slovakia (Slovak Republic)
-
-
-
-
-
1
Andrea Soltysova
+/.
6
c.380A>G
r.(?)
p.(His127Arg)
Parent #1
-
pathogenic
g.18598065A>G
g.18579945A>G
-
-
CDKL5_000016
-
PubMed: Russo 2009
-
-
Somatic
-
-
-
-
-
DNA
SEQ
-
-
Rett syndrome
19377305-Pat?
PubMed: Tarpey 2009
-
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
-
c.389A>T
r.(?)
p.(Asp130Val)
Unknown
-
pathogenic
g.18598074A>T
g.18579954A>T
-
-
CDKL5_000125
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.400C>T
r.(?)
p.(Arg134*)
Parent #1
-
pathogenic
g.18598085C>T
g.18579965C>T
-
-
CDKL5_000138
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs267608472
Germline
-
1/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+/.
-
c.400C>T
r.(?)
p.(Arg134*)
Unknown
ACMG
pathogenic
g.18598085C>T
-
C400T (R134X)
-
CDKL5_000138
-
PubMed: Halvardson 2016
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
Fam2
PubMed: Halvardson 2016
-
F
-
Sweden
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.403+1G>T
r.spl?
p.?
Unknown
-
pathogenic
g.18598089G>T
g.18579969G>T
CDKL5(NM_003159.3):c.403+1G>T
-
CDKL5_000098
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.403+5G>A
r.spl?
p.?
Unknown
-
VUS
g.18598093G>A
-
CDKL5(NM_001037343.1):c.403+5G>A (p.?)
-
RS1_000434
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
6i
c.404-53C>T
r.(=)
p.(=)
Parent #1
-
benign
g.21863415C>T
-
-
-
CDKL5_000017
Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
PubMed: Russo 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
19377306-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
-/.
-
c.404-16del
r.(=)
p.(=)
Unknown
-
benign
g.18599995del
g.18581875del
CDKL5(NM_001037343.1):c.404-16delT
-
CDKL5_000099
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.404-6C>G
r.(=)
p.(=)
Unknown
-
likely pathogenic
g.18600005C>G
-
-
-
RS1_000415
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.404-3C>A
r.spl?
p.?
Parent #1
-
likely pathogenic
g.18600008C>A
g.18581888C>A
-
-
CDKL5_000139
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs587783079
Germline
-
1/2773 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+/.
-
c.404-2A>G
r.spl?
p.?
Parent #1
-
pathogenic
g.18600009A>G
g.18581889A>G
-
-
CDKL5_000140
2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs587783080
Germline
-
2/2747 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
2
Mohammed Faruq
+/.
6i
c.404-1G>T
r.spl?
p.?
Parent #1
-
pathogenic
g.18600010G>T
g.18581890G>T
IVS6-1G>T
-
CDKL5_000050
-
PubMed: Archer 2006
;
OMIM:var0008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377276-Pat?
PubMed: Tarpey 2009
-
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
7
c.425T>A
r.(?)
p.(L142*)
Parent #1
-
pathogenic
g.21863489T>A
g.21845371T>A
-
-
CDKL5_000018
-
PubMed: Bahi-Buisson
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377307-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
?/.
-
c.431G>T
r.(?)
p.(Ser144Ile)
Parent #1
-
VUS
g.18600038G>T
g.18581918G>T
-
-
CDKL5_000086
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
+/.
-
c.433C>T
r.(?)
p.(His145Tyr)
Maternal (confirmed)
-
pathogenic (dominant)
g.18600040C>T
g.18581920C>T
-
-
CDKL5_000142
-
PubMed: Carvill 2013
-
-
Germline
-
-
-
-
-
DNA
MIP, SEQ, SEQ-NG
-
65-gene panel
EE
T22724
PubMed: Carvill 2013
2-generation family, 1 affected, unaffected carrier mother
M
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.436A>C
r.(?)
p.(Asn146His)
Unknown
-
VUS
g.18600043A>C
g.18581923A>C
CDKL5(NM_003159.3):c.436A>C (p.N146H)
-
RS1_000228
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.449A>G
r.(?)
p.(Lys150Arg)
Parent #1
-
VUS
g.18600056A>G
g.18581936A>G
-
-
CDKL5_000087
Polyphen: possibly damaging (PSIC:0,572)
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
+/.
-
c.449A>G
r.(?)
p.(Lys150Arg)
Parent #1
-
pathogenic
g.18600056A>G
g.18581936A>G
-
-
CDKL5_000087
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs587783083
Germline
-
1/2720 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+?/.
-
c.450A>C
r.(?)
p.(Lys150Asn)
Unknown
ACMG
likely pathogenic
g.18600057A>C
g.18581937A>C
-
-
CDKL5_000150
ACMG PM1, PM2, PM5, PP2, PP3
PubMed: Johannesen 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
candidate gene panel
epilepsy
Pat3
PubMed: Johannesen 2020
-
F
-
Denmark
-
-
-
-
-
1
Johan den Dunnen
+/.
7
c.455G>T
r.(?)
p.(C152F)
Unknown
-
pathogenic
g.18600062G>T
g.18581942G>T
-
-
CDKL5_000006
-
-
-
rs61748405
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
19377308-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
7
c.455G>T
r.(?)
p.(C152F)
Parent #1
-
pathogenic
g.18600062G>T
g.18581942G>T
-
-
CDKL5_000006
-
PubMed: Tao 2004
;
OMIM:var0003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377285-Pat?
PubMed: Tarpey 2009
-
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
?/.
-
c.464-81T>C
r.(=)
p.(=)
Parent #1
-
VUS
g.18602302T>C
g.18584182T>C
-
-
CDKL5_000083
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-?/.
-
c.464-9A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.18602374A>G
g.18584254A>G
CDKL5(NM_001323289.1):c.464-9A>G
-
RS1_000229
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.464-2A>G
r.spl
p.?
Unknown
-
pathogenic (dominant)
g.18602381A>G
g.18584261A>G
-
-
CDKL5_000143
-
PubMed: Carvill 2013
-
-
De novo
-
-
-
-
-
DNA
MIP, SEQ, SEQ-NG
-
65-gene panel
EE
T20819
PubMed: Carvill 2013
2-generation family, 1 affected, unaffected non-carrier parents
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.464-1G>A
r.spl?
p.?
Unknown
-
pathogenic
g.18602382G>A
g.18584262G>A
-
-
CDKL5_000126
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.464G>A
r.(?)
p.(Gly155Asp)
Parent #1
-
VUS
g.18602383G>A
g.18584263G>A
-
-
CDKL5_000084
PolyPhen-2: prob.dam. 1,00 / Mut.Tast: disease causing / loss of 5'-splice site)
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
-
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
+/.
-
c.514G>T
r.(?)
p.(Val172Phe)
Unknown
-
pathogenic
g.18602433G>T
g.18584313G>T
CDKL5(NM_001037343.1):c.514G>T (p.V172F)
-
CDKL5_000100
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
8
c.517G>C
r.(?)
p.(Ala173Pro)
Parent #1
-
VUS
g.18602436G>C
g.18584316G>C
-
-
CDKL5_000160
-
PubMed: Ganapathy 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-2964
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
+/.
8
c.525A>T
r.(?)
p.(R175S)
Unknown
-
pathogenic
g.18602444A>T
g.18584324A>T
-
-
CDKL5_000007
-
-
-
rs61749700
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
19377308-Pat?
PubMed: Tarpey 2009
-
-
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
8
c.525A>T
r.(?)
p.(R175S)
Parent #1
-
pathogenic
g.18602444A>T
g.18584324A>T
-
-
CDKL5_000007
-
PubMed: Tao 2004
;
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377286-Pat?
PubMed: Tarpey 2009
monozygotic twins
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
8
c.525A>T
r.(?)
p.(R175S)
Parent #1
-
pathogenic
g.18602444A>T
g.18584324A>T
-
-
CDKL5_000007
-
PubMed: Tao 2004
;
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
DEE2
19377287-Pat?
PubMed: Tarpey 2009
monozygotic twins
F
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
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