Global Variome shared LOVD
IQCB1 (IQ motif containing B1)
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_001023570.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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Column type
Example
Matches
Text
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space
Text
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|
Text
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
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="p.0"
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!=""
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!=""
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!=""
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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Numeric
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>
Numeric
>23
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Numeric
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combination
Numeric
>=20 <30 !23
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Some more advanced examples:
Example
Matches
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Asian !Caucasian
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"South Asian"
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-/.
-
c.-193T>C
r.(?)
p.(=)
Unknown
-
benign
g.121553904A>G
g.121835057A>G
-
-
IQCB1_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-102+5C>A
r.spl?
p.?
Unknown
-
VUS
g.121553808G>T
g.121834961G>T
IQCB1(NM_001023570.3):c.-102+5C>A
-
EAF2_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.?
r.?
p.?
Parent #2
-
pathogenic
g.?
-
p.Arg489*
-
OPA1_000149
-
PubMed: Carrigan 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
-
PubMed: Carrigan 2016
-
-
-
Ireland
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Parent #2
-
pathogenic
g.?
-
p.Glu346*
-
OPA1_000149
-
PubMed: Carrigan 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
-
PubMed: Carrigan 2016
-
-
-
Ireland
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Parent #2
-
pathogenic (recessive)
g.?
-
659delG
-
OPA1_000149
-
PubMed: Consugar 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
238-gene panel
retinal disease
OGI-326-773
PubMed: Consugar 2015
-
-
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.(Asn340_Leu371del)
Unknown
-
pathogenic
g.?
g.?
NPHP5 del340-371
-
OPA1_000149
NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium
PubMed: Barbelanne 2013
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
-
retinal disease
?
PubMed: Barbelanne 2013
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.(Ala547Lys)
Unknown
-
pathogenic
g.?
g.?
NPHP5 A547K
-
OPA1_000149
NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium
PubMed: Barbelanne 2013
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
-
retinal disease
?
PubMed: Barbelanne 2013
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.(Ala509_Glu529del)
Unknown
-
pathogenic
g.?
g.?
NPHP5 del509-529
-
OPA1_000149
NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium
PubMed: Barbelanne 2013
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
-
retinal disease
?
PubMed: Barbelanne 2013
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.(Ala549Lys)
Unknown
-
pathogenic
g.?
g.?
NPHP5 A549K
-
OPA1_000149
NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium
PubMed: Barbelanne 2013
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
-
retinal disease
?
PubMed: Barbelanne 2013
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.(Arg543_Thr555del)
Unknown
-
pathogenic
g.?
g.?
NPHP5 del543-555
-
OPA1_000149
NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium
PubMed: Barbelanne 2013
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
-
retinal disease
?
PubMed: Barbelanne 2013
-
-
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.162T>C
r.(?)
p.(Tyr54=)
Unknown
-
likely benign
g.121547418A>G
g.121828571A>G
IQCB1(NM_001023570.3):c.162T>C (p.Y54=)
-
IQCB1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.214C>T
r.(?)
p.(Arg72*)
Unknown
-
pathogenic (recessive)
g.121547366G>A
-
3:121547366G>A ENST00000310864.6:c.214C>T (Arg72Ter)
-
IQCB1_000064
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G007704
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+/.
-
c.214C>T
r.(?)
p.(Arg72*)
Unknown
-
pathogenic
g.121547366G>A
-
IQCB1(NM_001023570.3):c.214C>T (p.R72*)
-
IQCB1_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.214C>T
r.(?)
p.(Arg72*)
Parent #2
-
likely pathogenic
g.121547366G>A
g.121828519G>A
-
-
IQCB1_000064
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
438
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.214C>T
r.(?)
p.(Arg72*)
Unknown
ACMG
likely pathogenic
g.121547366G>A
g.121828519G>A
CNGB1 c.2957A>T, p.(Asn986Ile), c.3131_3149dup, p.(Phe1051Glufs*15), IQCB1 c.214C>T, p.(Arg72*)
-
IQCB1_000064
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
86
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
-
c.214C>T
r.(?)
p.(Arg72*)
Unknown
-
likely pathogenic
g.121547366G>A
g.121828519G>A
IQCB1 c.214C>T, p.Arg72Ter
-
IQCB1_000064
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G007704
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.214C>T
r.(?)
p.(Arg72*)
Unknown
ACMG
pathogenic
g.121547366G>A
g.121828519G>A
IQCB1 c.214C>T; p.Arg72Ter
-
IQCB1_000064
heterozygous
PubMed: Sallum 2020
-
-
Unknown
?
-
-
-
-
DNA
?
blood
224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien
retinal disease
52
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
+/.
-
c.260T>G
r.(?)
p.(Leu87*)
Unknown
-
pathogenic (recessive)
g.121547320A>C
-
3:121547320A>C ENST00000310864.6:c.260T>G (Leu87Ter)
-
IQCB1_000063
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G001275
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+?/.
-
c.260T>G
r.(?)
p.(Leu87*)
Unknown
-
likely pathogenic
g.121547320A>C
g.121828473A>C
IQCB1 c.260T>G, p.Leu87Ter
-
IQCB1_000063
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G001275
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.273dup
r.(?)
p.(Val92CysfsTer15)
Unknown
-
pathogenic
g.121545018dup
g.121826171dup
-
-
IQCB1_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.333delT
r.(?)
p.(Ala112Glnfs*5)
Parent #1
-
likely pathogenic
g.121544958del
g.121826111del
IQCB1 c.333delT, Ala111del1gcT
-
IQCB1_000098
error in annotation: p.(Ala112Glnfs*5) and not Ala111del1gcT; heterozygous
PubMed: Stone 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
1
PubMed: Stone 2011
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.333delT
r.(?)
p.(Ala112Glnfs*5)
Parent #1
-
likely pathogenic
g.121544958del
g.121826111del
IQCB1 c.333delT, p.A111del1gcT
-
IQCB1_000098
error in annotation: p.(Ala112Glnfs*5) and not Ala111del1gcT; heterozygous
PubMed: Cideciyan 2011
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
retinal disease
P19
PubMed: Cideciyan 2011
-
F
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.388G>A
r.(?)
p.(Ala130Thr)
Unknown
-
likely benign
g.121544903C>T
g.121826056C>T
IQCB1(NM_001023570.3):c.388G>A (p.A130T)
-
IQCB1_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.393+15A>G
r.(=)
p.(=)
Unknown
-
benign
g.121544883T>C
g.121826036T>C
IQCB1(NM_001023570.4):c.393+15A>G
-
IQCB1_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.394-1G>A
r.spl
p.?
Both (homozygous)
-
pathogenic (recessive)
g.121527857C>T
-
-
-
IQCB1_000074
-
PubMed: Porto 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
300-gene panel
retinal disease
Fam10PatFBP_30
PubMed: Porto 2017
proband
-
-
Brazil
-
-
-
-
-
1
LOVD
+/.
-
c.394-1G>A
r.(?)
p.(?)
Unknown
ACMG
pathogenic
g.121527857C>T
g.121809010C>T
IQCB1 c.394-1G>A; p.?
-
IQCB1_000074
homozygous
PubMed: Sallum 2020
-
-
Unknown
?
-
-
-
-
DNA
?
blood
224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien
retinal disease
49
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
-/.
-
c.424T>C
r.(?)
p.(Phe142Leu)
Unknown
-
benign
g.121527826A>G
g.121808979A>G
IQCB1(NM_001023570.4):c.424T>C (p.F142L)
-
IQCB1_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
6
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #1
-
likely pathogenic (recessive)
g.121527825_121527826del
g.121808978_121808979del
-
-
IQCB1_000040
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
123 gene panel
retinal disease
CIC00953
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
France
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #1
-
likely pathogenic
g.121527825_121527826del
g.121808978_121808979del
c.424_425delTT
-
IQCB1_000040
-
PubMed: Holtan 2020
-
-
Germline
-
1/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
1 patient with variant in heterozygous or compound heterozygous form
-
-
Norway
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Unknown
-
pathogenic (recessive)
g.121527825_121527826del
-
3:121527824GAA>G ENST00000310864.6:c.424_425delTT (Phe142ProfsTer5)
-
IQCB1_000040
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G007704
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Unknown
-
pathogenic
g.121527828_121527829del
g.121808981_121808982del
-
-
IQCB1_000040
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
M
-
-
-
-
-
-
-
1
IMGAG
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #1
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
421_422delTT
-
IQCB1_000040
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
398
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
421_422delTT
-
IQCB1_000040
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
399
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #1
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
421_422delTT
-
IQCB1_000040
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
410
PubMed: Stone 2017
1 affected
F
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #1
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
421_422delTT
-
IQCB1_000040
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
411
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Unknown
-
pathogenic
g.121527828_121527829del
g.121808981_121808982del
-
-
IQCB1_000040
-
PubMed: Haer-Wigman 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
gene panel
?
1955
PubMed: Haer-Wigman 2017
family
-
no
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425del
r.(?)
p.(Phe142ProfsTer5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
-
-
IQCB1_000040
-
PubMed: Coppieters 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
WES
retinal disease
Fam10
PubMed: Coppieters 2014
see paper
-
yes
Belgium
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #1
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1, variant 1: c.424_425del/p.F142Pfs*5, variant 2: c.812del/p.S271Ifs*11
-
IQCB1_000040
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
441
PubMed: Weisschuh 2020
Filing key number: 141, Leber congenital amaurosis, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Unknown
-
pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 c.424_425delTT, p.Phe142ProfsTer5
-
IQCB1_000040
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G007704
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.424_425del
r.(?)
p.(Phe142Profs*5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 c.424_425del, p.F142PfsX5
-
IQCB1_000040
homozygous
PubMed: Estrada-Cuzcano 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
42108
PubMed: Estrada-Cuzcano 2011
-
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #1
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 c.424_425del, p.F142PfsX5
-
IQCB1_000040
heterozygous
PubMed: Estrada-Cuzcano 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
12786
PubMed: Estrada-Cuzcano 2011
-
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #1
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 c.424_425del, p.F142PfsX5
-
IQCB1_000040
heterozygous
PubMed: Estrada-Cuzcano 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
13079
PubMed: Estrada-Cuzcano 2011
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425del
r.(?)
p.(Phe142Profs*5)
Parent #2
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 c.421-422delTT, Phe141del2cacTT
-
IQCB1_000040
error in annotation: p.(Phe142Profs*5) and not Phe141del2cacTT; heterozygous
PubMed: Stone 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
6
PubMed: Stone 2011
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.424_425del
r.(?)
p.(Phe142fs*146)
Unknown
-
pathogenic
g.121527828_121527829del
g.121808981_121808982del
NPHP5 F142fsX146
-
IQCB1_000040
mutations tested found previously in patients; no cDNA annotation - extrapolated from protein and databases
PubMed: Barbelanne 2013
-
-
In vitro (cloned)
?
-
-
-
-
DNA
?
-
-
retinal disease
?
PubMed: Barbelanne 2013
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425delTT
r.(?)
p.(Phe142Profs*5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 (KIAA0036) 424–425delTT, F142fsX1
-
IQCB1_000040
homozygous
PubMed: Otto 2005
-
-
Germline
yes
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
F1 (II-1)
PubMed: Otto 2005
family F1, individual II-1
?
yes
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425delTT
r.(?)
p.(Phe142Profs*5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 (KIAA0036) 424–425delTT, F142fsX1
-
IQCB1_000040
homozygous
PubMed: Otto 2005
-
-
Germline
yes
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
F1 (II-2)
PubMed: Otto 2005
family F1, individual II-2
?
yes
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425delTT
r.(?)
p.(Phe142Profs*5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 (KIAA0036) 424–425delTT, F142fsX1
-
IQCB1_000040
homozygous
PubMed: Otto 2005
-
-
Germline
yes
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
F399 (II-1)
PubMed: Otto 2005
family F399, individual II-1
?
no
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425delTT
r.(?)
p.(Phe142Profs*5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 (KIAA0036) 424–425delTT, F142fsX1
-
IQCB1_000040
homozygous
PubMed: Otto 2005
-
-
Germline
yes
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
F408 (II-1)
PubMed: Otto 2005
family F408, individual II-1
?
no
Switzerland
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425delTT
r.(?)
p.(Phe142Profs*5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 (KIAA0036) 424–425delTT, F142fsX1
-
IQCB1_000040
homozygous
PubMed: Otto 2005
-
-
Germline
yes
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
F409 (II-1)
PubMed: Otto 2005
family F409, individual II-1
?
no
Switzerland
-
-
-
-
-
1
LOVD
+?/.
-
c.424_425delTT
r.(?)
p.(Phe142ProfsTer5)
Both (homozygous)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
NPHP5 c.424_425delTT, p.F142fsX146
-
IQCB1_000040
homozygous
PubMed: Otto 2008
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
genes: NPHP1-NPHP28
retinal disease
A567
PubMed: Otto 2008
-
?
no
Austria
-
-
-
-
-
1
LOVD
+/.
-
c.445_448del
r.(?)
p.(Leu149Serfs*31)
Both (homozygous)
-
pathogenic
g.121527805_121527808del
g.121808958_121808961del
IQCB1 c.445_448delCTCT, p.L149Sfs*30
-
IQCB1_000091
homozygous
PubMed: Shen 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
F10‑III
PubMed: Shen 2021
-
F
yes
China
-
-
-
-
-
1
LOVD
+?/.
-
c.445_448delCTCT
r.(?)
p.(Leu149Serfs*31)
Both (homozygous)
-
likely pathogenic
g.121527805_121527808del
g.121808958_121808961del
IQCB1 (KIAA0036) 445–448delCTCT, L149fsX1
-
IQCB1_000091
homozygous
PubMed: Otto 2005
-
-
Germline
yes
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
F53 (II-2)
PubMed: Otto 2005
family F53, individual II-2
?
no
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.445_448delCTCT
r.(?)
p.(Leu149Serfs*31)
Unknown
-
likely pathogenic
g.121527805_121527808del
g.121808958_121808961del
IQCB1 (KIAA0036) 445–448delCTCT, L149fsX1
-
IQCB1_000091
heterozygous
PubMed: Otto 2005
-
-
Unknown
?
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
F269 (II-1)
PubMed: Otto 2005
family F269, individual II-1
?
no
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.479_482del
r.(?)
p.(Ile160Argfs*20)
Parent #1
-
likely pathogenic (recessive)
g.121527769_121527772del
g.121808922_121808925del
-
-
IQCB1_000072
-
PubMed: DiIorio 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
150-gene panel
retinal disease
Pat32
PubMed: Di Iorio 2017
-
-
-
Italy
-
-
-
-
-
1
LOVD
-?/.
-
c.482A>G
r.(?)
p.(Gln161Arg)
Unknown
-
likely benign
g.121527768T>C
g.121808921T>C
IQCB1(NM_001023570.3):c.482A>G (p.Q161R)
-
IQCB1_000053
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.488-1G>A
r.spl
p.(?)
Both (homozygous)
-
likely pathogenic
g.121526291C>T
g.121807444C>T
IQCB1;NM_001023570.2;c.[488-1G>A];[488-1G>A]
-
IQCB1_000084
homozygous
PubMed: Jiman 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
-
176 genes panel
retinal disease
46
PubMed: Jiman 2020
-
F
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
-
c.488-1G>A
r.spl
p.(?)
Both (homozygous)
-
likely pathogenic
g.121526291C>T
g.121807444C>T
NPHP5 c.488 -1G>A, Splice site
-
IQCB1_000084
homozygous
PubMed: Otto 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
genes: NPHP1-NPHP29
retinal disease
A364
PubMed: Otto 2008
-
?
yes
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.493C>T
r.(?)
p.(Gln165*)
Parent #2
-
likely pathogenic
g.121526285G>A
g.121807438G>A
-
-
IQCB1_000076
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
411
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
-/.
-
c.574C>T
r.(?)
p.(Leu192=)
Unknown
-
benign
g.121526204G>A
g.121807357G>A
IQCB1(NM_001023570.3):c.574C>T (p.L192=)
-
IQCB1_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.574C>T
r.(?)
p.(Leu192=)
Unknown
-
benign
g.121526204G>A
g.121807357G>A
IQCB1(NM_001023570.3):c.574C>T (p.L192=)
-
IQCB1_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.587+38del
r.(=)
p.(=)
Unknown
-
benign
g.121526161del
g.121807314del
IQCB1(NM_001023570.4):c.587+38delT
-
IQCB1_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.588-16del
r.(=)
p.(=)
Unknown
-
benign
g.121518246del
g.121799399del
IQCB1(NM_001023570.4):c.588-16delT
-
IQCB1_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.588T>C
r.(?)
p.(Ser196=)
Unknown
-
benign
g.121518221A>G
g.121799374A>G
IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=)
-
IQCB1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.588T>C
r.(?)
p.(Ser196=)
Unknown
-
likely benign
g.121518221A>G
g.121799374A>G
IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=)
-
IQCB1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.588T>C
r.(?)
p.(Ser196=)
Unknown
-
likely benign
g.121518221A>G
g.121799374A>G
IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=)
-
IQCB1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.588T>C
r.(?)
p.(Ser196=)
Unknown
-
likely benign
g.121518221A>G
g.121799374A>G
IQCB1(NM_001023570.2):c.588T>C (p.(=)), IQCB1(NM_001023570.3):c.588T>C (p.S196=), IQCB1(NM_001023570.4):c.588T>C (p.S196=)
-
IQCB1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.658T>A
r.(?)
p.(Ser220Thr)
Unknown
ACMG
VUS
g.121518151A>T
g.121799304A>T
IQCB1:NM_001023570 c.T658A, p.S220T
-
IQCB1_000086
heterozygous, individual solved, variant non-causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-234
PubMed: RodriguezjalopezMunoz 2020
family fRPN-100, proband
M
-
Spain
-
-
-
-
-
1
LOVD
+/.
8
c.658_659delinsG
r.(?)
p.(Ser220Glufs*7)
Both (homozygous)
-
pathogenic (recessive)
g.121518150_121518151delinsC
-
c.658_659delinsG
-
IQCB1_000090
-
PubMed: Colombo-2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
M
yes
-
-
-
-
-
-
1
LOVD
+?/.
8
c.686del
r.(?)
p.(Thr229Metfs*8)
Parent #2
-
likely pathogenic (recessive)
g.121518123del
g.121799276del
-
-
IQCB1_000060
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
123 gene panel
retinal disease
CIC00953
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
France
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.700_701del
r.(?)
p.(Leu234ThrfsTer5)
Unknown
-
pathogenic
g.121518108_121518109del
g.121799261_121799262del
-
-
IQCB1_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.708G>C
r.(?)
p.(Leu236Phe)
Unknown
ACMG
VUS
g.121518101C>G
g.121799254C>G
IQCB1:NM_001023570 c.G708C, p.L236F
-
IQCB1_000085
heterozygous, individual solved, variant non-causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-234
PubMed: RodriguezjalopezMunoz 2020
family fRPN-100, proband
M
-
Spain
-
-
-
-
-
1
LOVD
-/.
-
c.767-263_767-262del
r.(=)
p.(=)
Unknown
-
benign
g.121516349_121516350del
g.121797502_121797503del
IQCB1(NM_001023570.4):c.767-263_767-262delTT
-
IQCB1_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.767-262del
r.(=)
p.(=)
Unknown
-
benign
g.121516350del
g.121797503del
IQCB1(NM_001023570.4):c.767-262delT
-
IQCB1_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.767-260_767-259del
r.(=)
p.(=)
Unknown
-
benign
g.121516333_121516334del
g.121797486_121797487del
IQCB1(NM_001023570.4):c.767-260_767-259delTT
-
IQCB1_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.767-227_767-226del
r.(=)
p.(=)
Unknown
-
benign
g.121516311_121516312del
g.121797464_121797465del
IQCB1(NM_001023570.4):c.767-227_767-226delTT
-
IQCB1_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.772del
r.(?)
p.(Arg258Aspfs*4)
Unknown
-
VUS
g.121516069del
g.121797222del
772delA
-
IQCB1_000071
-
PubMed: Bryant 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
JB333
PubMed: Bryant 2018
-
-
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.775C>T
r.(?)
p.(Arg259Cys)
Unknown
-
VUS
g.121516066G>A
g.121797219G>A
IQCB1(NM_001023570.4):c.775C>T (p.R259C)
-
IQCB1_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.776G>A
r.(?)
p.(Arg259His)
Unknown
-
likely benign
g.121516065C>T
-
IQCB1(NM_001023570.3):c.776G>A (p.R259H)
-
IQCB1_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.782T>G
r.(?)
p.(Leu261Arg)
Unknown
-
likely benign
g.121516059A>C
g.121797212A>C
IQCB1(NM_001023570.4):c.782T>G (p.L261R)
-
IQCB1_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.782T>G
r.(?)
p.(Leu261Arg)
Unknown
-
likely benign
g.121516059A>C
g.121797212A>C
IQCB1(NM_001023570.4):c.782T>G (p.L261R)
-
IQCB1_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.812del
r.(?)
p.(Ser271Ilefs*11)
Parent #1
-
likely pathogenic
g.121516029del
g.121797182del
IQCB1, variant 1: c.424_425del/p.F142Pfs*5, variant 2: c.812del/p.S271Ifs*11
-
IQCB1_000089
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
441
PubMed: Weisschuh 2020
Filing key number: 141, Leber congenital amaurosis, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.814C>T
r.(?)
p.(Gln272*)
Unknown
-
likely pathogenic
g.121516027G>A
g.121797180G>A
IQCB1 c.814C>T, p.Gln272Ter
-
IQCB1_000088
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G012335
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.817G>T
r.(?)
p.(Glu273*)
Parent #1
-
pathogenic
g.121516024C>A
g.121797177C>A
-
-
IQCB1_000058
18 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs794727964
Germline
-
18/2781 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
18
Mohammed Faruq
+?/.
-
c.825_828del
r.(?)
p.(Arg275Serfs*6)
Parent #1
-
likely pathogenic
g.121516015_121516018del
g.121797168_121797171del
IQCB1, variant 1: c.825_828del/p.R275Sfs*6, variant 2: c.1518_1519del/p.H506Nfs*13
-
IQCB1_000087
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET6 targeted sequencing panel - see paper
retinal disease
15
PubMed: Weisschuh 2020
Filing key number: 9, Leber congenital amaurosis, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.825_828del
r.(?)
p.(Arg275Serfs*6)
Parent #1
-
likely pathogenic
g.121516015_121516018del
g.121797168_121797171del
IQCB1 c.825_828del, p.R275SfsX6
-
IQCB1_000087
heterozygous
PubMed: Estrada-Cuzcano 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
42125
PubMed: Estrada-Cuzcano 2011
-
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.825_828del
r.(?)
p.(Arg275Serfs*6)
Parent #1
-
likely pathogenic
g.121516015_121516018del
g.121797168_121797171del
IQCB1 c.825_828del, p.R275SfsX6
-
IQCB1_000087
heterozygous
PubMed: Estrada-Cuzcano 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
42110
PubMed: Estrada-Cuzcano 2011
-
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.825_828delACAG
r.(?)
p.(Arg275Serfs*6)
Unknown
-
likely pathogenic
g.121516015_121516018del
g.121797168_121797171del
IQCB1 (KIAA0036) 825–828delACAG, R275fsX2
-
IQCB1_000087
heterozygous
PubMed: Otto 2005
-
-
Unknown
?
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
A19 (II-1)
PubMed: Otto 2005
family A19, individual II-1
?
no
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.825_828delACAG
r.(?)
p.(Arg275Serfs*6)
Unknown
-
likely pathogenic
g.121516015_121516018del
g.121797168_121797171del
IQCB1 (KIAA0036) 825–828delACAG, R275fsX2
-
IQCB1_000087
heterozygous
PubMed: Otto 2005
-
-
Unknown
?
0/155
-
-
-
RNA
RT-PCR, SEQ
blood (EBV-transformed lymphoblast cell lines)
candidate genes: ROPN1, HAPIP, TRAD, ITGB5, MUC13, DIRC2, AB033030, AB033063 and IQCB1 (KIAA0036)
retinal disease
F269 (II-1)
PubMed: Otto 2005
family F269, individual II-1
?
no
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.876+1G>A
r.spl
p.(?)
Parent #1
ACMG
pathogenic
g.121515964C>T
g.121797117C>T
IQCB1 NM_001023570: g.37963G>A, c.876+1G>A
-
IQCB1_000083
-
PubMed: Xu 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
targeted next-generation sequencing
retinal disease
19398
PubMed: Xu 2020
-
?
no
China
-
-
-
-
-
1
LOVD
+?/.
-
c.876+1G>T
r.spl
p.?
Parent #2
-
likely pathogenic (recessive)
g.121515964C>A
g.121797117C>A
-
-
IQCB1_000070
-
PubMed: DiIorio 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
150-gene panel
retinal disease
Pat32
PubMed: Di Iorio 2017
-
-
-
Italy
-
-
-
-
-
1
LOVD
-?/.
-
c.876+19A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.121515946T>C
-
IQCB1(NM_001023570.4):c.876+19A>G
-
IQCB1_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.877-46dup
r.(=)
p.(=)
Unknown
-
benign
g.121514472dup
g.121795625dup
IQCB1(NM_001023570.3):c.877-46dupT
-
IQCB1_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.877-43del
r.(=)
p.(=)
Unknown
-
benign
g.121514458del
g.121795611del
IQCB1(NM_001023570.4):c.877-43delA
-
IQCB1_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.877-10G>A
r.(=)
p.(=)
Unknown
-
VUS
g.121514423C>T
g.121795576C>T
IQCB1(NM_001023570.3):c.877-10G>A
-
IQCB1_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.897_900dup
r.(?)
p.(Ile301Leufs*42)
Unknown
-
pathogenic
g.121514392_121514395dup
g.121795545_121795548dup
-
-
IQCB1_000038
-
PubMed: Haer-Wigman 2017
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
gene panel
?
1955
PubMed: Haer-Wigman 2017
family
-
no
Netherlands
-
-
-
-
-
1
LOVD
?/.
-
c.904C>G
r.(?)
p.(Gln302Glu)
Unknown
-
VUS
g.121514386G>C
g.121795539G>C
IQCB1(NM_001023570.3):c.904C>G (p.Q302E)
-
IQCB1_000056
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.958G>A
r.(?)
p.(Ala320Thr)
Unknown
-
VUS
g.121514332C>T
-
IQCB1(NM_001023570.3):c.958G>A (p.A320T)
-
IQCB1_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.962T>A
r.(?)
p.(Val321Glu)
Unknown
-
VUS
g.121514328A>T
g.121795481A>T
-
-
IQCB1_000069
-
PubMed: Bryant 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
JB28
PubMed: Bryant 2018
-
-
-
United States
-
-
-
-
-
1
LOVD
-?/.
-
c.986+5A>C
r.spl?
p.?
Unknown
-
likely benign
g.121514299T>G
g.121795452T>G
IQCB1(NM_001023570.3):c.986+5A>C
-
IQCB1_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.994C>T
r.(?)
p.(Arg332Ter)
Unknown
-
pathogenic
g.121509055G>A
g.121790208G>A
-
-
IQCB1_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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