Global Variome shared LOVD
CLN3 (ceroid-lipofuscinosis, neuronal 3)
LOVD v.3.0 Build 30b [
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Curator:
Sara Mole
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An NCL gene variant database
CLN1/PPT (PPT1 (palmitoyl-protein thioesterase 1)
CLN2/TPP1 (tripeptidyl peptidase I)
CLN3 (ceroid-lipofuscinosis, neuronal 3)
CLN4/DNAJC5 (DnaJ (Hsp40) homolog, subfamily C, member 5)
CLN5 (ceroid-lipofuscinosis, neuronal 3)
CLN6 (ceroid-lipofuscinosis, neuronal 3)
CLN7/MFSD8 (major facilitator superfamily domain contain...)
CLN8 (ceroid-lipofuscinosis, neuronal 3)
CLN10/CTSD (cathepsin D)
CLN11/GRN (granulin)
CLN12/ATP13A2 (ATPase type 13A2)
CLN13/CTSF (cathepsin F)
CLN14/KCTD7 (potassium channel tetramerisation domain containing 7)
CLCN6 (chloride channel, voltage-sensitive 6)
SGSH (N-sulfoglucosamine sulfohydrolase)
The variants shown are described using the NM_001042432.1 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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
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
all entries in or before June, 2020
>
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
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
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all entries with values from 20 to 29, but not equal to 23
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'Asian' but not containing 'Caucasian'
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
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all entries containing 'South Asian', but not containing 'South East Asian'
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742 entries on 8 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
+/.
7i_9i
c.(460+1_461-1)_(677+1_678-1))del
r.?
p.(Val155Glyfs*3)
Parent #1
ACMG
pathogenic
g.(28498776_28497972)_(28497667_28495440)del
-
-
-
CLN3_000149
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
067112
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+/.
-
c.(460+1_461-1)_(677+1_678-1))del
r.?
p.(Val155Glyfs*3)
Unknown
ACMG
pathogenic
g.(28498776_28497972)_(28497667_28495440)del
-
-
-
CLN3_000149
case unsolved
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
066804
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(460+1_461-1)_(677+1_678-1))del
r.?
p.(Val155Glyfs*3)
Unknown
ACMG
pathogenic
g.(28498776_28497972)_(28497667_28495440)del
-
-
-
CLN3_000149
case unsolved
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
066813
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(460+1_461-1)_(677+1_678-1))del
r.?
p.(Val155Glyfs*3)
Unknown
ACMG
pathogenic
g.(28498776_28497972)_(28497667_28495440)del
-
-
-
CLN3_000149
no variant 2nd chromosome, case unsolved
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
066725
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(460+1_461-1)_(677+1_678-1))del
r.?
p.(Val155Glyfs*3)
Unknown
ACMG
pathogenic
g.(28498776_28497972)_(28497667_28495440)del
-
464_677del
-
CLN3_000149
no variant 2nd chromosome, case unsolved
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
079509
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
./.
-
c.-3385420_*1305686dup
-
-
Unknown
-
pathogenic
g.27183151_31888684dup
g.27171830_31877363dup
-
-
CLN3_000010
mosaicism, copy number 3 in 0.33 cells
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
Somatic
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected sibling(s)
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
2
Johan den Dunnen
./.
-
c.-828981_*6958630del
r.0?
p.0?
Unknown
-
pathogenic
g.21530207_29332245del
g.21518886_29320924del
-
-
CLN3_000009
decreased gene dosage
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.-5988C>T
r.(?)
p.(=)
Unknown
-
VUS
g.28509252G>A
-
APOBR(NM_018690.3):c.2890G>A (p.(Gly964Arg))
-
CLN3_000175
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-5146G>T
r.(?)
p.(=)
Unknown
-
VUS
g.28508410C>A
-
APOBR(NM_018690.3):c.2048C>A (p.(Thr683Asn))
-
CLN3_000174
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-4594C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.28507858G>A
g.28496537G>A
APOBR(NM_018690.3):c.1496G>A (p.(Gly499Glu))
-
CLN3_000111
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-3558C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.28506822G>A
g.28495501G>A
APOBR(NM_018690.3):c.460G>A (p.(Gly154Ser))
-
CLN3_000108
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.-1101C>T
r.(=)
p.(=)
Unknown
-
pathogenic
g.28504365G>A
g.28493044G>A
c.1-1101C>T; polymorphism
-
CLN3_000079
Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1_2
c.-359_46del
r.?
p.?
Both (homozygous)
ACMG
likely pathogenic
g.28503035_28503623del
-
-
-
CLN3_000122
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
DNA
-
CLN3
?
-
-
F
?
Sweden
-
-
-
-
-
1
Corina-Marcela Rus
+?/.
1_2
c.-359_46del
r.?
p.?
Both (homozygous)
ACMG
likely pathogenic
g.28503035_28503623del
-
-
-
CLN3_000122
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
DNA
-
CLN3
?
-
-
F
?
(Sweden)
-
-
-
-
-
1
Corina-Marcela Rus
+/.
-
c.0
r.0
p.0
Unknown
-
pathogenic
g.?
-
not identified
-
CRYM_000000
-
PubMed: Munroe 1997
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
9311735-?
PubMed: Munroe 1997
,
Batten disease database
variant 1st and 2nd allele not identified
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.0
r.0
p.0
Parent #1
-
pathogenic
g.?
-
1.7 Mb deletion
-
CRYM_000000
hemizygous 16p11.2 microdeletion unmasks 1kb mutation in CLN3
PubMed: Pebrel-Richard 2014
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
23860047-?
PubMed: Pebrel-Richard 2014
,
Batten disease database
hemizygous 16p11.2 microdeletion unmasks 1kb mutation in CLN3
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.?
-
2.8 kb deletion
-
CRYM_000000
Check also: Brancati 2007
PubMed: Avela 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Avela 2019
-
-
-
Finland
Finnish
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.?
-
2.8kb deletion
-
CRYM_000000
-
PubMed: Avela 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
-
PubMed: Avela 2019
-
-
-
Finland
Finnish
-
-
-
-
1
LOVD
+?/.
-
c.?
r.spl
p.(?)
Unknown
ACMG
likely pathogenic
g.?
g.?
large deletion
-
CRYM_000000
-
PubMed: Dozieres-Puyravel 2020
-
-
Germline
?
-
-
-
-
?
?
-
-
CLN
3
PubMed: Dozieres-Puyravel 2020
-
?
-
France
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Both (homozygous)
-
likely pathogenic
g.?
g.?
1.02 kb deletion
-
CRYM_000000
homozygous
PubMed: Jilani 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
CLN
13
PubMed: Jilani 2019
-
M
no
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Both (homozygous)
-
likely pathogenic
g.?
g.?
1.02 kb deletion
-
CRYM_000000
homozygous
PubMed: Jilani 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
CLN
16
PubMed: Jilani 2019
-
M
?
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Unknown
-
likely pathogenic
g.28100001_34600000del
g.28500001_35300000del
CGH array, microdeletion in 16p11.2
-
CRYM_000000
zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2
PubMed: Ruberto 2020
-
-
Unknown
?
-
-
-
-
DNA
arrayCGH
-
targeted sequencing with 1 of 4 panels of OFTALMOgenics probes
retinal disease
3
PubMed: Ruberto 2020
-
?
-
Italy
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Unknown
-
likely pathogenic
g.28497285_28498251del
-
chr16:g.28497285_28498251del
-
CRYM_000000
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G005260
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.(?)
Unknown
-
pathogenic
g.?
g.?
CLN3 1.02-kb, del
-
CRYM_000000
heterozygous
PubMed: Thorsteinsson 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
retrospective analysis
retinal disease
BD1
PubMed: Thorsteinsson 2021
-
?
-
Iceland
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Both (homozygous)
-
likely pathogenic
g.?
g.?
CLN3 2.8 kb deletion
-
CRYM_000000
homozygous
PubMed: Avela 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ, MLPA
-
targeted gene analysis or a next-generation sequencing-based gene panel
retinal disease
22
PubMed: Avela 2019
-
?
-
Finland
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Both (homozygous)
-
likely pathogenic
g.?
g.?
CLN3 2.8 kb deletion
-
CRYM_000000
homozygous
PubMed: Avela 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ, MLPA
-
targeted gene analysis or a next-generation sequencing-based gene panel
retinal disease
23
PubMed: Avela 2019
-
?
-
Finland
-
-
-
-
-
1
LOVD
+/.
1
c.1A>C
r.(1a>c)
p.0?
Parent #1
-
pathogenic
g.28503080T>G
g.28491759T>G
p.Met1Leu
-
CLN3_000078
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.1A>G
r.(?)
p.?
Unknown
ACMG
pathogenic
g.28503080T>C
NM_001042432.2:c.1A>G
-
-
CLN3_000168
-
Villafuerte-de la Cruz RA, et al., 2023. Submitted
ClinVar-2356
rs386833708
Germline
?
-
-
-
-
DNA
SEQ-NG-I
Buccal swab
Retinal dystrophy panel
CLN3
2473654
Villafuerte-de la Cruz RA, et al., 2023. Submitted
-
F
no
Mexico
Hispanic
-
-
yes
None
1
Rocio Villafuerte-de la Cruz
-/.
-
c.45G>A
r.(?)
p.(Glu15=)
Unknown
-
benign
g.28503036C>T
g.28491715C>T
CLN3(NM_001042432.1):c.45G>A (p.E15=), CLN3(NM_001042432.2):c.45G>A (p.E15=)
-
CLN3_000096
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.45G>A
r.(?)
p.(Glu15=)
Unknown
-
likely benign
g.28503036C>T
g.28491715C>T
CLN3(NM_001042432.1):c.45G>A (p.E15=), CLN3(NM_001042432.2):c.45G>A (p.E15=)
-
CLN3_000096
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.45G>A
r.(?)
p.(Glu15=)
Unknown
-
likely benign
g.28503036C>T
g.28491715C>T
CLN3(NM_001042432.1):c.45G>A (p.E15=), CLN3(NM_001042432.2):c.45G>A (p.E15=)
-
CLN3_000096
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.49G>T
r.(49g>u)
p.(Glu17*)
Parent #2
-
pathogenic
g.28502879C>A
g.28491558C>A
p.Glu17X
-
CLN3_000077
-
PubMed: Kwon 2005
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
16087292-?
PubMed: Kwon 2005
,
Batten disease database
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.105G>A
r.(105g>a)
p.(Trp35*)
Parent #1
-
pathogenic
g.28502823C>T
g.28491502C>T
p.Trp35X
-
CLN3_000076
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.105G>A
r.(105g>a)
p.(Trp35*)
Parent #1
-
pathogenic
g.28502823C>T
g.28491502C>T
p.Trp35X
-
CLN3_000076
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
variant 2nd allele not identified
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.125+1G>C
r.spl?
p.?
Parent #2
-
pathogenic
g.28502802C>G
g.28491481C>G
c.125+1G>C
-
CLN3_000075
(in Pas with blindess only ~60y)
PubMed: Wang 2014
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
24154662-?
PubMed: Wang 2014
,
Batten disease database
siblings; only blindness at 57y
-
-
Mexico
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.125+1G>C
r.spl?
p.?
Parent #2
-
pathogenic
g.28502802C>G
g.28491481C>G
c.125+1G>C
-
CLN3_000075
(in Pas with blindess only ~60y)
PubMed: Wang 2014
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
24154662-?
PubMed: Wang 2014
,
Batten disease database
only blindness at 50-60y
-
-
Mexico
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.125+5G>A
r.spl?
p.?
Parent #1
-
pathogenic
g.28502798C>T
g.28491477C>T
c.125+5G>A
-
CLN3_000074
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Belgium
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.126-1G>A
r.spl?
p.?
Both (homozygous)
-
pathogenic
g.28500708C>T
g.28489387C>T
c.126-1G>A
-
CLN3_000073
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.126-1G>A
r.spl?
p.?
Both (homozygous)
-
pathogenic
g.28500708C>T
g.28489387C>T
c.125-1G>A
-
CLN3_000073
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.126-1G>A
r.spl?
p.?
Parent #1
-
pathogenic
g.28500708C>T
g.28489387C>T
c.126-1G>A
-
CLN3_000073
-
PubMed: Mole 2001
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
11589012-?
PubMed: Mole 2001
,
Batten disease database
-
-
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.126-1G>A
r.spl?
p.?
Parent #1
-
pathogenic
g.28500708C>T
g.28489387C>T
c.126-1G>A
-
CLN3_000073
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.163A>T
r.(?)
p.(Met55Leu)
Unknown
-
likely pathogenic
g.28500670T>A
-
CLN3(NM_001286110.1):c.1A>T (p.M1?)
-
CLN3_000135
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.168G>A
r.(?)
p.(Leu56=)
Unknown
-
likely benign
g.28500665C>T
-
CLN3(NM_001042432.1):c.168G>A (p.L56=)
-
CLN3_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.174C>T
r.(?)
p.(Ala58=)
Unknown
-
benign
g.28500659G>A
g.28489338G>A
CLN3(NM_001042432.2):c.174C>T (p.A58=)
-
CLN3_000095
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.175G>A
r.(?)
p.(Ala59Thr)
Parent #1
-
likely pathogenic
g.28500658C>T
g.28489337C>T
CLN3 c.175G>A, p.(A59T)
-
CLN3_000163
heterozygous
PubMed: Chen 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
?
PubMed: Chen 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.175G>A
r.(?)
p.(Ala59Thr)
Parent #1
-
pathogenic
g.28500658C>T
-
c.175G>A
-
CLN3_000163
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.175G>A
r.(?)
p.(Ala59Thr)
Parent #1
-
pathogenic
g.28500658C>T
-
c.175G>A
-
CLN3_000163
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
-
c.175G>A
r.(?)
p.(Ala59Thr)
Unknown
ACMG
pathogenic
g.28500658C>T
g.28489337C>T
-
-
CLN3_000163
case unsolved
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
073887
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.176C>T
r.(?)
p.(Ala59Val)
Unknown
-
VUS
g.28500657G>A
-
-
-
CLN3_000158
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.181_183del
r.(?)
p.(Asp61del)
Both (homozygous)
-
likely pathogenic
g.28500652_28500654del
g.28489331_28489333del
181_183delGAC (Asp61del)
-
CLN3_000160
homozygous
PubMed: Sher 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
Epidasd545 Panel
CLN3
V:3
PubMed: Sher 2019
-
M
yes
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.181_183del
r.(?)
p.(Asp61del)
Both (homozygous)
-
likely pathogenic
g.28500652_28500654del
g.28489331_28489333del
181_183delGAC (Asp61del)
-
CLN3_000160
homozygous
PubMed: Sher 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
Epidasd545 Panel
CLN3
V:4
PubMed: Sher 2019
-
M
yes
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.181_183del
r.(?)
p.(Asp61del)
Parent #1
-
likely pathogenic
g.28500652_28500654del
g.28489331_28489333del
181_183delGAC (Asp61del)
-
CLN3_000160
homozygous
PubMed: Sher 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
Epidasd545 Panel
CLN3
V:3
PubMed: Sher 2019
-
M
yes
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.181_183del
r.(?)
p.(Asp61del)
Parent #1
-
likely pathogenic
g.28500652_28500654del
g.28489331_28489333del
181_183delGAC (Asp61del)
-
CLN3_000160
homozygous
PubMed: Sher 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
Epidasd545 Panel
CLN3
V:4
PubMed: Sher 2019
-
M
yes
Pakistan
-
-
-
-
-
1
LOVD
-?/.
-
c.206C>T
r.(?)
p.(Ser69Leu)
Unknown
-
likely benign
g.28500627G>A
g.28489306G>A
CLN3(NM_001042432.1):c.206C>T (p.S69L)
-
CLN3_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.206C>T
r.(?)
p.(Ser69Leu)
Unknown
-
VUS
g.28500627G>A
g.28489306G>A
c.206C>T, p.Ser69Leu
-
CLN3_000118
In silico models disagree, heterozygous
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
121-865
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.214C>T
r.(214c>u)
p.(Gln72*)
Parent #1
-
pathogenic
g.28500619G>A
g.28489298G>A
p.Gln72X
-
CLN3_000072
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21990111-?
PubMed: Kousi 2012
,
Batten disease database
variant 2nd allele not identified
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.222T>C
r.(?)
p.(His74=)
Unknown
-
benign
g.28500611A>G
g.28489290A>G
CLN3(NM_001042432.1):c.222T>C (p.H74=), CLN3(NM_001042432.2):c.222T>C (p.H74=), CLN3(NM_001286105.1):c.2T>C (p.M1?)
-
CLN3_000094
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.222T>C
r.(?)
p.(His74=)
Unknown
-
likely benign
g.28500611A>G
g.28489290A>G
CLN3(NM_001042432.1):c.222T>C (p.H74=), CLN3(NM_001042432.2):c.222T>C (p.H74=), CLN3(NM_001286105.1):c.2T>C (p.M1?)
-
CLN3_000094
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.222T>C
r.(?)
p.(His74=)
Unknown
-
likely benign
g.28500611A>G
g.28489290A>G
CLN3(NM_001042432.1):c.222T>C (p.H74=), CLN3(NM_001042432.2):c.222T>C (p.H74=), CLN3(NM_001286105.1):c.2T>C (p.M1?)
-
CLN3_000094
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1i
c.222+2T>G
r.spl?
p.?
Parent #1
-
pathogenic
g.28500609A>C
g.28489288A>C
originally IVS3+2T>G
-
CLN3_000071
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21990111-?
PubMed: Kousi 2012
,
Batten disease database
variant 2nd allele not identified
-
-
Greece
-
-
-
-
-
1
Johan den Dunnen
+/.
1i
c.222+5G>C
r.spl?
p.?
Parent #2
-
pathogenic
g.28500606C>G
g.28489285C>G
c.222+5G>C
-
CLN3_000070
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.223-8C>T
r.(=)
p.(=)
Unknown
-
benign
g.28499991G>A
g.28488670G>A
CLN3(NM_001042432.1):c.223-8C>T
-
CLN3_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.233dup
r.(?)
p.(Thr80Asnfs*12)
Both (homozygous)
-
pathogenic
g.28499974dup
g.28488653dup
p.Thr80AsnfsX12
-
CLN3_000068
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.238A>T
r.(?)
p.(Thr80Ser)
Unknown
-
benign
g.28499968T>A
g.28488647T>A
CLN3(NM_001042432.2):c.238A>T (p.T80S)
-
CLN3_000107
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.240G>A
r.(?)
p.(Thr80=)
Unknown
-
benign
g.28499966C>T
g.28488645C>T
CLN3(NM_001042432.1):c.240G>A (p.T80=), CLN3(NM_001286105.2):c.20G>A (p.R7H)
-
CLN3_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.240G>A
r.(?)
p.(Thr80=)
Unknown
-
likely benign
g.28499966C>T
g.28488645C>T
CLN3(NM_001042432.1):c.240G>A (p.T80=), CLN3(NM_001286105.2):c.20G>A (p.R7H)
-
CLN3_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.240G>A
r.(?)
p.(Thr80=)
Unknown
-
likely benign
g.28499966C>T
g.28488645C>T
CLN3(NM_001042432.1):c.240G>A (p.T80=), CLN3(NM_001286105.2):c.20G>A (p.R7H)
-
CLN3_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.242C>T
r.(?)
p.(Pro81Leu)
Unknown
-
VUS
g.28499964G>A
g.28488643G>A
CLN3(NM_001042432.2):c.242C>T (p.P81L), CLN3(NM_001286105.1):c.22C>T (p.R8*), CLN3(NM_001286105.2):c.22C>T (p.R8*)
-
CLN3_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.242C>T
r.(?)
p.(Pro81Leu)
Unknown
-
VUS
g.28499964G>A
g.28488643G>A
CLN3(NM_001042432.2):c.242C>T (p.P81L), CLN3(NM_001286105.1):c.22C>T (p.R8*), CLN3(NM_001286105.2):c.22C>T (p.R8*)
-
CLN3_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.242C>T
r.(?)
p.(Pro81Leu)
Unknown
-
VUS
g.28499964G>A
-
CLN3(NM_001042432.2):c.242C>T (p.P81L), CLN3(NM_001286105.1):c.22C>T (p.R8*), CLN3(NM_001286105.2):c.22C>T (p.R8*)
-
CLN3_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.243G>A
r.(?)
p.(Pro81=)
Unknown
-
likely benign
g.28499963C>T
g.28488642C>T
CLN3(NM_001042432.1):c.243G>A (p.P81=)
-
CLN3_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.265C>T
r.(265c>u)
p.(Arg89*)
Both (homozygous)
-
pathogenic
g.28499941G>A
g.28488620G>A
p.Arg89X
-
CLN3_000066
-
PubMed: Pérez-Poyato 2011
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21499717-?
PubMed: Pérez-Poyato 2011
,
Batten disease database
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.265C>T
r.(265c>u)
p.(Arg89*)
Parent #1
-
pathogenic
g.28499941G>A
g.28488620G>A
p.Arg89X
-
CLN3_000066
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Norway
-
-
-
-
-
1
Johan den Dunnen
+?/.
1
c.266G>A
r.(?)
p.(Arg89Gln)
Both (homozygous)
-
likely pathogenic (recessive)
g.28499940C>T
g.28488619C>T
-
-
CLN3_000098
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
blood
-
RD
-
-
-
F
-
Mexico
-
-
-
-
-
1
Juan Carlos Zenteno
+/.
-
c.266G>A
r.(?)
p.(Arg89Gln)
Both (homozygous)
ACMG
pathogenic
g.28499940C>T
g.28488619C>T
-
-
CLN3_000098
ACMG PS1, PM2, PP1, PP2, PP3, PP4
PubMed: Zenteno 2020
-
-
Germline
-
1/143 cases
-
-
-
DNA
SEQ, SEQ-NG
-
199 gene panel
retinal disease
3919
PubMed: Zenteno 2020
family
-
-
Mexico
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.270T>C
r.(?)
p.(Phe90=)
Unknown
-
VUS
g.28499936A>G
g.28488615A>G
CLN3(NM_001042432.1):c.270T>C (p.F90=), CLN3(NM_001042432.2):c.270T>C (p.F90=), CLN3(NM_001286105.1):c.50T>C (p.L17S)
-
CLN3_000106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.270T>C
r.(?)
p.(Phe90=)
Unknown
-
likely benign
g.28499936A>G
g.28488615A>G
CLN3(NM_001042432.1):c.270T>C (p.F90=), CLN3(NM_001042432.2):c.270T>C (p.F90=), CLN3(NM_001286105.1):c.50T>C (p.L17S)
-
CLN3_000106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.270T>C
r.(?)
p.(Phe90=)
Unknown
-
likely benign
g.28499936A>G
-
CLN3(NM_001042432.1):c.270T>C (p.F90=), CLN3(NM_001042432.2):c.270T>C (p.F90=), CLN3(NM_001286105.1):c.50T>C (p.L17S)
-
CLN3_000106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.294-80G>A
r.(=)
p.(=)
Parent #1
-
pathogenic
g.28499992C>T
g.28488671C>T
originally IVS-81G>A
-
CLN3_000069
Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Mole 2001
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
11589012-?
PubMed: Mole 2001
,
Batten disease database
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.294-80G>A
r.(=)
p.(=)
Parent #2
-
pathogenic
g.28499992C>T
g.28488671C>T
originally IVS-81G>A
-
CLN3_000069
Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.294-58G>A
r.(=)
p.(=)
Parent #1
-
pathogenic
g.28499970C>T
g.28488649C>T
orignally IVS4-59G>A
-
CLN3_000067
Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Mole 2001
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
11589012-?
PubMed: Mole 2001
,
Batten disease database
-
-
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.294-58G>A
r.(=)
p.(=)
Parent #2
-
pathogenic
g.28499970C>T
g.28488649C>T
orignally IVS4-59G>A
-
CLN3_000067
Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
-
-
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.295-59G>A
r.(=)
p.(=)
Unknown
-
benign
g.28499121C>T
g.28487800C>T
CLN3(NM_001042432.1):c.295-59G>A
-
CLN3_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.302T>C
r.(302u>c
p.(Leu101Pro)
Parent #2
-
likely pathogenic
g.28499055A>G
g.28487734A>G
p.Leu101Pro
-
CLN3_000065
-
PubMed: Munroe 1997
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
9311735-?
PubMed: Munroe 1997
,
Batten disease database
-
-
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.303_305del
r.(?)
p.(Leu102del)
Parent #2
-
likely pathogenic
g.28499054_28499056del
g.28487733_28487735del
303_305delCCT
-
CLN3_000138
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
626
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
-?/.
-
c.313A>G
r.(?)
p.(Ile105Val)
Parent #1
-
likely benign
g.28499044T>C
g.28487723T>C
-
-
CLN3_000119
5 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs11552531
Germline
-
5/2793 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
5
Mohammed Faruq
-?/.
-
c.318C>T
r.(?)
p.(Leu106=)
Unknown
-
likely benign
g.28499039G>A
-
CLN3(NM_001042432.1):c.318C>T (p.L106=)
-
CLN3_000143
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.327C>T
r.(?)
p.(Leu109=)
Unknown
-
benign
g.28499030G>A
g.28487709G>A
CLN3(NM_001042432.2):c.327C>T (p.L109=)
-
CLN3_000105
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.370del
r.(?)
p.(Tyr124Thrfs*57)
Parent #1
-
likely pathogenic
g.28498987del
g.28487666del
CLN3, variant 1: c.370del/p.Y124Tfs*57, variant 2: c.676A>G/p.S226G
-
CLN3_000153
error in annotation, indicated transcript is NM_033380.2, which is COL4A5 transcript, possibly solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
retinal disease
824
PubMed: Weisschuh 2020
Filing key number: 337, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.370del
r.(?)
p.(Tyr124Thrfs*57)
Parent #1
-
likely pathogenic
g.28498987del
g.28487666del
CLN3, variant 1: c.370del/p.Y124Tfs*57, variant 2: c.676A>G/p.S226G
-
CLN3_000153
possibly solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
825
PubMed: Weisschuh 2020
Filing key number: 337, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
1
c.370dup
r.(?)
p.(Tyr124Leufs*36)
Parent #1
-
pathogenic
g.28498987dup
g.28487666dup
p.Tyr124LeufsX36
-
CLN3_000064
-
PubMed: Pérez-Poyato 2011
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21499717-?
PubMed: Pérez-Poyato 2011
,
Batten disease database
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.370dup
r.(?)
p.(Tyr124Leufs*36)
Parent #1
-
pathogenic
g.28498987dup
g.28487666dup
370insT
-
CLN3_000064
-
PubMed: Kousi 2012
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
21990111-?
PubMed: Kousi 2012
,
Batten disease database
variant 2nd allele not identified
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.371_372insT
r.(?)
p.(Ser125GlnfsTer35)
Both (homozygous)
-
pathogenic (recessive)
g.28498985_28498986insA
g.28487664_28487665insA
-
-
CLN3_000177
-
PubMed: Fernandez-Marmiesse 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
?
Pat5
PubMed: Fernandez-Marmiesse 2014
-
M
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.374G>A
r.[374g>a, spl?]
p.[Ser125Asn, ?]
Parent #2
-
pathogenic
g.28498983C>T
g.28487662C>T
p.Ser125Asn
-
CLN3_000063
formerly p.Ser125Asn / splice-site affecting
PubMed: Pérez-Poyato 2011
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21499717-?
PubMed: Pérez-Poyato 2011
,
Batten disease database
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.374G>A
r.[374g>a, spl?]
p.[Ser125Asn, ?]
Parent #2
-
pathogenic
g.28498983C>T
g.28487662C>T
p.Ser125Asn
-
CLN3_000063
formerly p.Ser125Asn / splice-site affecting
PubMed: Pérez-Poyato 2011
,
Batten disease database
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
CLN
21499717-?
PubMed: Pérez-Poyato 2011
,
Batten disease database
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.375-3C>G
r.(?)
p.?
Parent #2
-
likely pathogenic
g.28498865G>C
g.28487544G>C
CLN3 c.375-3C>G, (splice site)
-
CLN3_000162
heterozygous
PubMed: Ku 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
whole-genome sequencing or whole-exome sequencing
retinal disease
-
PubMed: Ku 2017
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.(374+1_375-1)_(533+1_534-1)del
r.?
p.?
Unknown
-
pathogenic
g.(28497812_28497898)_(28498863_28498982)del
g.(28486491_28486577)_(28487542_28487661)del
-
-
CLN3_000139
-
PubMed: Haer-Wigman 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
?
504
PubMed: Haer-Wigman 2017
patient
-
no
Netherlands
-
-
-
-
-
1
LOVD
+?/.
_7_8_
c.(374+1_375-1)_(533+1_534-1)del
r.(?)
p.(?)
Both (homozygous)
-
likely pathogenic
g.?
g.?
CLN3 Ex.7-8 c.(374+1_375-1)_(533+1_534-1)del, Ex.7-8 c.(374+1_375-1)_(533+1_534-1)del
-
CRYM_000000
homozygous
PubMed: Martin Merida 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
RP-1673
PubMed: Martin Merida 2019
-
?
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.(374+1_375-1)_(533+1_534-1)del
r.?
p.(Ser125_Pro177del)
Parent #1
-
VUS
g.?
-
c.(374+1_375-1)_(533+1_534-1)del
-
CRYM_000000
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
-
c.375del
r.(?)
p.(Arg127Glyfs*54)
Unknown
-
pathogenic
g.28498862del
g.28487541del
NM_000086.2:379del (Arg127fs)
-
CLN3_000061
-
PubMed: Haer-Wigman 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
?
504
PubMed: Haer-Wigman 2017
patient
-
no
Netherlands
-
-
-
-
-
1
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