Global Variome shared LOVD
CLCN4 (chloride channel, voltage-sensitive 4)
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Global Variome, with Curator vacancy
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The variants shown are described using the NM_001830.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
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
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
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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
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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192 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
-
:c.823G>A
r.(?)
p.(Val275Met)
Unknown
-
pathogenic
g.10174796G>A
g.10206756G>A
-
-
CLCN4_000081
-
PubMed: Palmer 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ID
FamN
PubMed: Palmer 2018
2-generation family, 1 affected, unaffected non carrier parents
F
-
United States
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.-4376633_*275742del
r.0?
p.0?
Unknown
ACMG
VUS
g.5748782_10477366del
g.5830745_10559329del
chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous
-
NLGN4X_000080
no gene indicated in publication!
PubMed: Perea-Romero 2021
-
-
Germline
yes
-
-
-
-
DNA
?
-
clinical exome sequencing | aCGH
retinal disease
RP-1018
PubMed: Perea-Romero 2021
-
-
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.-12+4577G>C
r.(?)
p.(=)
Unknown
-
VUS
g.10131168G>C
g.10163128G>C
-
-
CLCN4_000073
-
-
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG
-
-
MRXSBL;MRX60
-
-
-
F
no
-
-
-
-
-
-
1
Chunli Wang
+?/.
-
c.?
r.0?
p.0?
Unknown
ACMG
likely pathogenic
g.146618988_147825523dup[3]
g.147147409_148353395dup[3]
chr1, g.146618988-147825523dup, arr([GRCh37] 1q21.1q21.2(146,618,988-147,825,523)x3), heterozygous
-
CLCN4_000001
no gene indicated in publication!
PubMed: Perea-Romero 2021
-
-
Germline
yes
-
-
-
-
DNA
?
-
clinical exome sequencing | aCGH
retinal disease
RP-1321
PubMed: Perea-Romero 2021
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.2T>C
r.(?)
p.?
Unknown
-
likely pathogenic
g.10153074T>C
-
CLCN4(NM_001830.3):c.2T>C (p.(Met1?))
-
CLCN4_000141
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.43G>A
r.(?)
p.(Asp15Asn)
Unknown
-
pathogenic
g.10153115G>A
g.10185075G>A
-
-
CLCN4_000079
-
PubMed: Palmer 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ID
FamK
PubMed: Palmer 2018
2-generation family, 1 affected, unaffected non carrier parents
F
-
United States
white
-
-
-
-
1
Johan den Dunnen
+/.
3
c.43_55del
r.(?)
p.(Asp15Serfs*18)
Maternal (confirmed)
-
pathogenic (recessive)
g.10153115_10153127del
g.10185075_10185087del
Asp15Serfs*18
-
CLCN4_000035
-
PubMed: Hu 2016
,
PubMed: Palmer 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
FamMRX49/L19;FamA
PubMed: Hu 2016
,
PubMed: Palmer 2018
4-generation family, 7 affected (2F, 5M)
F;M
-
Belgium
-
-
-
-
-
4
Johan den Dunnen
?/.
-
c.59C>T
r.(?)
p.(Pro20Leu)
Unknown
-
VUS
g.10153131C>T
-
CLCN4(NM_001830.4):c.59C>T (p.P20L)
-
CLCN4_000138
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.87C>G
r.(?)
p.(Asp29Glu)
Maternal (confirmed)
-
VUS
g.10153159C>G
g.10185119C>G
-
-
CLCN4_000088
-
PubMed: Palmer 2022
SCV002525740
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D1
PubMed: Palmer 2022
family, 3 affected (half-)brothers, unaffected carrier mother
M
-
England
-
-
-
-
-
3
Johan den Dunnen
?/.
-
c.87C>G
r.(?)
p.(Asp29Glu)
Maternal (confirmed)
-
VUS
g.10153159C>G
g.10185119C>G
-
-
CLCN4_000088
-
PubMed: Palmer 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D1brother
PubMed: Palmer 2022
brother
M
-
England
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.87C>G
r.(?)
p.(Asp29Glu)
Maternal (confirmed)
-
VUS
g.10153159C>G
g.10185119C>G
-
-
CLCN4_000088
-
PubMed: Palmer 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D1mother
PubMed: Palmer 2022
mother
F
-
England
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.100G>A
r.(?)
p.(Asp34Asn)
Maternal (confirmed)
-
VUS
g.10153172G>A
g.10185132G>A
-
-
CLCN4_000089
-
PubMed: Palmer 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
DBQD, NDD
C1
PubMed: Palmer 2022
2-generation family, affected brother/sister, asymptomatic carrier mother
M
-
-
Europe;white
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.144+2T>G
r.spl?
p.?
Unknown
-
likely pathogenic
g.10153218T>G
g.10185178T>G
CLCN4(NM_001830.4):c.144+2T>G
-
CLCN4_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.145-4C>A
r.spl?
p.?
Unknown
-
likely benign
g.10155551C>A
g.10187511C>A
CLCN4(NM_001830.4):c.145-4C>A
-
CLCN4_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.185A>G
r.(?)
p.(Lys62Arg)
Unknown
-
likely pathogenic
g.10155595A>G
g.10187555A>G
-
-
CLCN4_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.185A>G
r.(?)
p.(Lys62Arg)
Maternal (confirmed)
-
VUS
g.10155595A>G
g.10187555A>G
-
-
CLCN4_000036
-
PubMed: Palmer 2022
SCV002525715
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A1
PubMed: Palmer 2022
2-generation family, 2 affected half-brothers, asymptomatic carrier mother, half brother severe autism, maternal half sister mild autism
M
-
Netherlands
white
-
-
-
-
2
Johan den Dunnen
?/.
-
c.206C>T
r.(?)
p.(Ser69Leu)
Maternal (confirmed)
-
VUS
g.10155616C>T
g.10187576C>T
-
-
CLCN4_000090
-
PubMed: Palmer 2022
SCV002525738
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
C2
PubMed: Palmer 2022
2-generation family, 1 affected, asymptomatic carrier mother
M
-
Lebanon
-
-
-
-
-
1
Johan den Dunnen
+/.
4
c.232G>A
r.(?)
p.(Gly78Ser)
Unknown
-
pathogenic (recessive)
g.10155642G>A
g.10187602G>A
Gly78Ser
-
CLCN4_000033
-
PubMed: Hu 2016
,
PubMed: Palmer 2018
SCV000297912.2
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
FamN70;FamD
PubMed: Hu 2016
,
PubMed: Palmer 2018
2-generation family, 1 affected
M
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.265G>A
r.(?)
p.(Asp89Asn)
Unknown
ACMG
VUS
g.10162971G>A
g.10194931G>A
-
-
CLCN4_000070
-
-
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG
-
-
MRXSBL;MRX60
-
-
-
F
no
China
-
-
-
-
-
1
Chunli Wang
?/.
-
c.265G>A
r.(?)
p.(Asp89Asn)
Unknown
-
VUS
g.10162971G>A
g.10194931G>A
-
-
CLCN4_000070
-
PubMed: Palmer 2022
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B1
PubMed: Palmer 2022
family, 1 affected
F
-
France
white
-
-
-
-
1
Johan den Dunnen
+/.
-
c.265G>A
r.(?)
p.(Asp89Asn)
Unknown
-
pathogenic
g.10162971G>A
g.10194931G>A
-
-
CLCN4_000070
-
PubMed: Palmer 2022
SCV001468990.1
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B2
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.274G>A
r.(?)
p.(Val92Met)
Paternal (confirmed)
-
VUS
g.10162980G>A
g.10194940G>A
-
-
CLCN4_000091
-
PubMed: Palmer 2022
SCV000920556.1
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A3
PubMed: Palmer 2022
2-generstion family, 3 affected females, affected father; to date only proband and father tested
F
-
France
white
-
-
-
-
4
Johan den Dunnen
?/.
-
c.274G>A
r.(?)
p.(Val92Met)
Unknown
-
VUS
g.10162980G>A
g.10194940G>A
-
-
CLCN4_000091
-
PubMed: Palmer 2022
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A3father
PubMed: Palmer 2022
father
M
-
France
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.314C>G
r.(?)
p.(Ser105Cys)
Unknown
-
VUS
g.10163020C>G
g.10194980C>G
-
-
CLCN4_000092
-
PubMed: Palmer 2022
SCV002003533.1
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D2
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.314C>G
r.(?)
p.(Ser105Cys)
Unknown
-
VUS
g.10163020C>G
g.10194980C>G
-
-
CLCN4_000092
-
PubMed: Palmer 2022
SCV000549937.4
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D3
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.422A>G
r.(?)
p.(Asn141Ser)
Maternal (confirmed)
ACMG
VUS
g.10163128A>G
g.10195088A>G
-
-
CLCN4_000071
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
MRXSBL;MRX60
-
-
-
F
no
China
-
-
-
-
-
1
Chunli Wang
?/.
-
c.432+216_432+217del
r.(=)
p.(=)
Unknown
-
VUS
g.10163354_10163355del
g.10195314_10195315del
-
-
CLCN4_000017
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
?/.
-
c.432+216_432+217del
r.(=)
p.(=)
Unknown
-
VUS
g.10163354_10163355del
g.10195314_10195315del
-
-
CLCN4_000017
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
?/.
-
c.432+232_432+233del
r.(=)
p.(=)
Unknown
-
VUS
g.10163370_10163371del
g.10195330_10195331del
-
-
CLCN4_000002
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-?/.
-
c.433G>A
r.(?)
p.(Gly145Ser)
Unknown
-
likely benign
g.10165979G>A
-
-
-
CLCN4_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.466T>C
r.(?)
p.(Tyr156His)
Unknown
-
VUS
g.10166012T>C
-
CLCN4(NM_001830.4):c.466T>C (p.Y156H)
-
CLCN4_000145
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.486G>A
r.(?)
p.(Leu162=)
Unknown
-
likely benign
g.10166032G>A
-
CLCN4(NM_001830.3):c.486G>A (p.L162=)
-
CLCN4_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.555+97A>C
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.10166198A>C
g.10198158A>C
-
-
CLCN4_000004
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
?/.
-
c.555+97A>C
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.10166198A>C
g.10198158A>C
-
-
CLCN4_000004
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+?/.
-
c.608C>T
r.(?)
p.(Thr203Ile)
Maternal (confirmed)
-
likely pathogenic
g.10174450C>T
g.10206410C>T
-
-
CLCN4_000093
-
PubMed: Palmer 2022
SCV002525716
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A4
PubMed: Palmer 2022
3-generation family, affected (son), mildly affected heterozygous mother
M
-
-
white
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.608C>T
r.(?)
p.(Thr203Ile)
Unknown
-
likely pathogenic
g.10174450C>T
g.10206410C>T
-
-
CLCN4_000093
-
PubMed: Palmer 2022
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A4mother
PubMed: Palmer 2022
mother
F
-
-
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.635T>G
r.(?)
p.(Val212Gly)
Parent #1
-
VUS
g.10174477T>G
g.10206437T>G
-
-
CLCN4_000026
found once, nonrecurrent change
PubMed: Tarpey 2009
-
-
Germline
-
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377476-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
+/.
-
c.635T>G
r.(?)
p.(Val212Gly)
Maternal (confirmed)
-
pathogenic
g.10174477T>G
g.10206437T>G
-
-
CLCN4_000026
-
PubMed: Palmer 2018
SCV000245780.1
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ID
FamG
PubMed: Palmer 2018
3-generation family, 5 affected brothers (5M)
M
-
Australia
white
-
-
-
-
5
Johan den Dunnen
-?/.
-
c.651C>T
r.(?)
p.(Ser217=)
Unknown
-
likely benign
g.10174493C>T
g.10206453C>T
CLCN4(NM_001830.4):c.651C>T (p.(Ser217=), p.S217=)
-
CLCN4_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.651C>T
r.(?)
p.(Ser217=)
Unknown
-
benign
g.10174493C>T
-
CLCN4(NM_001830.4):c.651C>T (p.(Ser217=), p.S217=)
-
CLCN4_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
7
c.661C>G
r.(?)
p.(Leu221Val)
Maternal (confirmed)
-
pathogenic (recessive)
g.10174503C>G
g.10206463C>G
Leu221Val
-
CLCN4_000032
-
PubMed: Hu 2016
,
PubMed: Palmer 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
FamAU27;FamE
PubMed: Hu 2016
,
PubMed: Palmer 2018
5-generation family, 4 affected (5M), 1 unaffected carrier female
M
-
Australia
-
-
-
-
-
4
Johan den Dunnen
+/.
-
c.662T>C
r.(?)
p.(Leu221Pro)
Unknown
-
pathogenic
g.10174504T>C
g.10206464T>C
-
-
CLCN4_000080
-
PubMed: Palmer 2018
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ID
FamH
PubMed: Palmer 2018
2-generation family, 1 affected, unaffected non carrier parents
F
-
United States
white
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.677C>T
r.(?)
p.(Pro226Leu)
Unknown
-
likely pathogenic
g.10174519C>T
g.10206479C>T
-
-
CLCN4_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.677C>T
r.(?)
p.(Pro226Leu)
Unknown
-
VUS
g.10174519C>T
g.10206479C>T
-
-
CLCN4_000037
-
PubMed: Palmer 2022
SCV002525717
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A6
PubMed: Palmer 2022
family, 1 affected
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.688G>A
r.(?)
p.(Val230Met)
Unknown
-
VUS
g.10174530G>A
g.10206490G>A
CLCN4(NM_001256944.1):c.406G>A (p.(Val136Met))
-
CLCN4_000038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.712T>C
r.(?)
p.(Phe238Leu)
Unknown
-
VUS
g.10174554T>C
g.10206514T>C
-
-
CLCN4_000094
-
PubMed: Palmer 2022
SCV000570777.4
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D4
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.718A>G
r.(?)
p.(Ser240Gly)
Unknown
-
likely benign
g.10174560A>G
g.10206520A>G
CLCN4(NM_001830.3):c.718A>G (p.S240G)
-
CLCN4_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.747G>A
r.(?)
p.(Glu249=)
Unknown
-
likely benign
g.10174589G>A
-
CLCN4(NM_001830.3):c.747G>A (p.E249=)
-
CLCN4_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.762+2T>C
r.spl?
p.?
Unknown
-
likely pathogenic
g.10174606T>C
-
CLCN4(NM_001830.4):c.762+2T>C
-
CLCN4_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.804T>G
r.(?)
p.(Phe268Leu)
Unknown
-
pathogenic
g.10174777T>G
g.10206737T>G
-
-
CLCN4_000095
-
PubMed: Palmer 2022
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B3
PubMed: Palmer 2022
family, 1 affected
F
-
-
white
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.806G>A
r.(?)
p.(Gly269Asp)
Unknown
-
likely pathogenic
g.10174779G>A
g.10206739G>A
-
-
CLCN4_000096
-
PubMed: Palmer 2022
SCV000607256.1
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A7
PubMed: Palmer 2022
family, 1 affected
F
-
Canada
white
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.806G>A
r.(?)
p.(Gly269Asp)
Unknown
-
likely pathogenic
g.10174779G>A
g.10206739G>A
-
-
CLCN4_000096
-
PubMed: Palmer 2022
SCV00058636.4
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A8
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.814A>G
r.(?)
p.(Ile272Val)
Unknown
-
VUS
g.10174787A>G
g.10206747A>G
-
-
CLCN4_000097
-
PubMed: Palmer 2022
SCV000742044.2
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A9
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.822C>T
r.(?)
p.(Gly274=)
Unknown
-
likely benign
g.10174795C>T
-
CLCN4(NM_001830.3):c.822C>T (p.G274=)
-
CLCN4_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.823G>A
r.(?)
p.(Val275Met)
Unknown
-
pathogenic
g.10174796G>A
g.10206756G>A
-
-
CLCN4_000081
-
PubMed: Palmer 2022
SCV000577686.4
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A12
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.823G>C
r.(?)
p.(Val275Leu)
Maternal (confirmed)
-
VUS
g.10174796G>C
g.10206756G>C
-
-
CLCN4_000098
-
PubMed: Palmer 2022
SCV002525718
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A10
PubMed: Palmer 2022
3-generation family, 1 affected, heterozygous carrier mother
M
-
-
white
-
-
-
-
2
Johan den Dunnen
?/.
-
c.826C>T
r.(?)
p.(Leu276Phe)
Maternal (confirmed)
-
VUS
g.10174799C>T
g.10206759C>T
-
-
CLCN4_000099
-
PubMed: Palmer 2022
SCV002525719
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A13
PubMed: Palmer 2022
2-generation family, 1 affected, asymptomatic carrier mother
M
-
-
Arab
4y
-
-
-
2
Johan den Dunnen
?/.
-
c.832A>C
r.(?)
p.(Ser278Arg)
Unknown
-
VUS
g.10174805A>C
g.10206765A>C
-
-
CLCN4_000100
-
PubMed: Palmer 2022
SCV000549940.2
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A14
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.832A>C
r.(?)
p.(Ser278Arg)
Unknown
-
VUS
g.10174805A>C
g.10206765A>C
-
-
CLCN4_000100
-
PubMed: Palmer 2022
SCV001542314.4
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A15
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.835C>G
r.(?)
p.(Leu279Val)
Unknown
-
likely pathogenic
g.10174808C>G
g.10206768C>G
-
-
CLCN4_000101
-
PubMed: Palmer 2022
SCV002525720
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A16
PubMed: Palmer 2022
family, 1 affected
F
-
-
white
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.840A>T
r.(?)
p.(Glu280Asp)
Unknown
-
likely pathogenic
g.10174813A>T
g.10206773A>T
-
-
CLCN4_000102
-
PubMed: Palmer 2022
SCV002525721
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A17
PubMed: Palmer 2022
family, 1 affected
M
-
-
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.844-1G>A
r.spl?
p.?
Unknown
-
VUS
g.10176084G>A
-
CLCN4(NM_001830.4):c.844-1G>A
-
CLCN4_000136
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.844G>A
r.(?)
p.(Val282Ile)
Unknown
ACMG
VUS
g.10176085G>A
g.10208045G>A
NM_001256944.1:c.562G>A:p.Val188Ile
-
CLCN4_000064
-
PubMed: Monies et al 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG
blood
-
NDD
UPN-1267
PubMed: Monies et al 2019
-
F
no
Saudi Arabia
-
-
-
-
-
1
Alexander Groffen
?/.
-
c.848G>A
r.(?)
p.(Ser283Asn)
Unknown
-
VUS
g.10176089G>A
g.10208049G>A
-
-
CLCN4_000103
-
PubMed: Palmer 2022
SCV002525722
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A18
PubMed: Palmer 2022
family, 1 affected
F
-
United Kingdom (Great Britain)
white
-
-
-
-
1
Johan den Dunnen
+/.
-
c.925_928del
r.(?)
p.(Asn309ProfsTer67)
Maternal (confirmed)
-
pathogenic
g.10176166_10176169del
g.10208126_10208129del
-
-
CLCN4_000104
-
PubMed: Palmer 2022
SCV002525744
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
E1
PubMed: Palmer 2022
4-generation family, 2 affected (2M), asymptomatic carrier mother
M
-
-
white
-
-
-
-
2
Johan den Dunnen
?/.
-
c.926A>G
r.(?)
p.(Asn309Ser)
Maternal (confirmed)
-
VUS
g.10176167A>G
g.10208127A>G
-
-
CLCN4_000105
-
PubMed: Palmer 2022
SCV002525723
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A19
PubMed: Palmer 2022
2-generation family, 2 affected brothers, heterozygous carrier mother (47y)
M
-
-
white
-
-
-
-
2
Johan den Dunnen
?/.
-
c.926A>G
r.(?)
p.(Asn309Ser)
Maternal (confirmed)
-
VUS
g.10176167A>G
g.10208127A>G
-
-
CLCN4_000105
-
PubMed: Palmer 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A19brother
PubMed: Palmer 2022
older brother
M
-
-
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.926A>G
r.(?)
p.(Asn309Ser)
Unknown
-
VUS
g.10176167A>G
g.10208127A>G
-
-
CLCN4_000105
-
PubMed: Palmer 2022
SCV002032467.1
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A20
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.928C>T
r.(?)
p.(Pro310Ser)
Unknown
-
VUS
g.10176169C>T
g.10208129C>T
-
-
CLCN4_000106
-
PubMed: Palmer 2022
SCV002525731
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B4
PubMed: Palmer 2022
family, 1 affected
F
-
-
white
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.944G>A
r.(?)
p.(Arg315His)
Unknown
-
likely pathogenic
g.10176185G>A
g.10208145G>A
-
-
CLCN4_000107
-
PubMed: Palmer 2022
SCV002525741
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D5
PubMed: Palmer 2022
family, 1 affected
F
-
Uzbekistan
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.944G>A
r.(?)
p.(Arg315His)
Unknown
-
VUS
g.10176185G>A
g.10208145G>A
-
-
CLCN4_000107
-
PubMed: Palmer 2022
SCV001480412.1
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D6
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.944G>A
r.(?)
p.(Arg315His)
Unknown
-
VUS
g.10176185G>A
g.10208145G>A
-
-
CLCN4_000107
-
PubMed: Palmer 2022
SCV002250535.1
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D7
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.948C>T
r.(?)
p.(Leu316=)
Unknown
-
likely benign
g.10176189C>T
g.10208149C>T
CLCN4(NM_001830.3):c.948C>T (p.L316=)
-
CLCN4_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.949G>A
r.(?)
p.(Val317Ile)
Parent #1
-
VUS
g.10176190G>A
g.10208150G>A
-
-
CLCN4_000027
found once, nonrecurrent change
PubMed: Tarpey 2009
-
-
Germline
-
1/208 cases
-
-
-
DNA
SEQ
-
-
MRX;IDX
19377476-Pat?
PubMed: Tarpey 2009
-
M
-
-
-
-
-
for details contact Lucy Raymond (flr24 @ cam.ac.uk)
-
1
Lucy Raymond
?/.
-
c.949G>A
r.(?)
p.(Val317Ile)
Unknown
-
VUS
g.10176190G>A
g.10208150G>A
-
-
CLCN4_000027
-
PubMed: Palmer 2022
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B5
PubMed: Palmer 2022
family, 1 affected
M
-
France
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.949G>A
r.(?)
p.(Val317Ile)
Maternal (confirmed)
-
VUS
g.10176190G>A
g.10208150G>A
-
-
CLCN4_000027
-
PubMed: Palmer 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B6
PubMed: Palmer 2022
2-generation family, affected male, mother mosaic
M
-
Mexico
-
-
-
-
-
2
Johan den Dunnen
?/.
-
c.949G>A
r.(?)
p.(Val317Ile)
Unknown
-
VUS
g.10176190G>A
g.10208150G>A
-
-
CLCN4_000027
-
PubMed: Palmer 2022
-
-
Somatic
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B6mother
PubMed: Palmer 2022
mother
F
-
Mexico
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.949G>A
r.(?)
p.(Val317Ile)
Unknown
-
likely pathogenic
g.10176190G>A
g.10208150G>A
-
-
CLCN4_000027
-
PubMed: Palmer 2022
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B7
PubMed: Palmer 2022
family, 1 affected
M
-
-
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.949G>T
r.(?)
p.(Val317Phe)
Unknown
-
VUS
g.10176190G>T
g.10208150G>T
-
-
CLCN4_000108
-
PubMed: Palmer 2022
SCV000621815.2
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B8
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.956T>C
r.(?)
p.(Phe319Ser)
Maternal (confirmed)
-
VUS
g.10176197T>C
g.10208157T>C
-
-
CLCN4_000109
-
PubMed: Palmer 2022
SCV002525724
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A21
PubMed: Palmer 2022
2-generation family, 1 affected, unaffected carrier mother
M
-
Belgium
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1025G>A
r.(?)
p.(Gly342Glu)
Maternal (confirmed)
-
VUS
g.10176266G>A
g.10208226G>A
-
-
CLCN4_000110
-
PubMed: Palmer 2022
SCV002525725
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A22
PubMed: Palmer 2022
2-generation family, 1 affected, unaffected mosaic carrier mother
-
-
Scotland
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1025G>A
r.(?)
p.(Gly342Glu)
Unknown
-
VUS
g.10176266G>A
g.10208226G>A
-
-
CLCN4_000110
-
PubMed: Palmer 2022
SCV002163577.1
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A23
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1052G>A
r.(?)
p.(Arg351His)
Unknown
-
VUS
g.10176293G>A
-
CLCN4(NM_001830.4):c.1052G>A (p.R351H)
-
CLCN4_000139
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1078C>A
r.(?)
p.(Arg360Ser)
Maternal (confirmed)
-
VUS
g.10176319C>A
g.10208279C>A
-
-
CLCN4_000111
-
PubMed: Palmer 2022
SCV002525726
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A24
PubMed: Palmer 2022
3-generation family, 1 affected, asymptomatic carrier mother
M
-
Iraq
-
-
-
-
-
2
Johan den Dunnen
?/.
-
c.1090A>G
r.(?)
p.(Arg364Gly)
Unknown
-
VUS
g.10176331A>G
g.10208291A>G
-
-
CLCN4_000112
-
PubMed: Palmer 2022
SCV002525742
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D8
PubMed: Palmer 2022
family, 1 affected
M
-
Canada
France;white
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.1098G>C
r.(?)
p.(Gly366=)
Unknown
-
likely benign
g.10176339G>C
g.10208299G>C
-
-
CLCN4_000040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1106C>T
r.(?)
p.(Pro369Leu)
Unknown
-
VUS
g.10176347C>T
g.10208307C>T
-
-
CLCN4_000113
-
PubMed: Palmer 2022
SCV002525739
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
C3
PubMed: Palmer 2022
family, 1 affected
M
-
-
Europe;white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1106C>T
r.(?)
p.(Pro369Leu)
Unknown
-
VUS
g.10176347C>T
g.10208307C>T
-
-
CLCN4_000113
-
PubMed: Palmer 2022
SCV001503010.2
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
C4
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.1106C>T
r.(?)
p.(Pro369Leu)
Unknown
-
pathogenic
g.10176347C>T
g.10208307C>T
-
-
CLCN4_000113
-
PubMed: Gostain 2020
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
?
CMC24
PubMed: Gostain 2020
-
M
-
Canada
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.1107G>A
r.(?)
p.(Pro369=)
Unknown
-
likely benign
g.10176348G>A
-
CLCN4(NM_001830.3):c.1107G>A (p.P369=)
-
CLCN4_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1121T>C
r.(?)
p.(Ile374Thr)
Unknown
-
VUS
g.10176362T>C
g.10208322T>C
-
-
CLCN4_000114
-
PubMed: Palmer 2022
SCV000577573.3
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A25
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1121T>C
r.(?)
p.(Ile374Thr)
Unknown
-
VUS
g.10176362T>C
g.10208322T>C
-
-
CLCN4_000114
-
PubMed: Palmer 2022
SCV002200551.1
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
A26
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1171C>T
r.(?)
p.(Arg391Cys)
Unknown
-
VUS
g.10176412C>T
-
CLCN4(NM_001830.4):c.1171C>T (p.R391C)
-
CLCN4_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1181C>G
r.(?)
p.(Thr394Ser)
Unknown
-
likely benign
g.10176422C>G
g.10208382C>G
CLCN4(NM_001830.3):c.1181C>G (p.T394S)
-
CLCN4_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.1185C>G
r.(?)
p.(Ser395Arg)
Unknown
-
VUS
g.10176426C>G
g.10208386C>G
-
-
CLCN4_000115
-
PubMed: Palmer 2022
SCV002525733
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
B9
PubMed: Palmer 2022
family, 1 affected
F
-
-
white
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1295G>A
r.(?)
p.(Arg432Gln)
Unknown
-
VUS
g.10176536G>A
g.10208496G>A
-
-
CLCN4_000116
-
PubMed: Palmer 2022
SCV000394131.1
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
NDD
D9
PubMed: Palmer 2022
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.1320G>A
r.(?)
p.(Thr440=)
Unknown
-
likely benign
g.10176561G>A
-
CLCN4(NM_001830.3):c.1320G>A (p.T440=), CLCN4(NM_001830.4):c.1320G>A (p.T440=)
-
CLCN4_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1320G>A
r.(?)
p.(Thr440=)
Unknown
-
likely benign
g.10176561G>A
-
CLCN4(NM_001830.3):c.1320G>A (p.T440=), CLCN4(NM_001830.4):c.1320G>A (p.T440=)
-
CLCN4_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.1360G>A
r.(?)
p.(Val454Ile)
Unknown
-
likely benign
g.10176601G>A
g.10208561G>A
CLCN4(NM_001830.3):c.1360G>A (p.V454I)
-
CLCN4_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.1363G>A
r.(?)
p.(Val455Ile)
Maternal (confirmed)
-
likely pathogenic
g.10176604G>A
-
-
-
CLCN4_000076
-
PubMed: He 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
epilepsy
Pat1
PubMed: He 2021
2-generation family, 1 affected, unaffected carrier mother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
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