Global Variome shared LOVD
IQCB1 (IQ motif containing B1)
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Unique variants in the IQCB1 gene
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.
Reported
: The number of times this variant has been reported in the database.
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
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%)
How to query this table
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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
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
102 entries on 2 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
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
Owner
-/.
1
-
c.-193T>C
r.(?)
p.(=)
-
benign
g.121553904A>G
g.121835057A>G
-
-
IQCB1_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.-102+5C>A
r.spl?
p.?
-
VUS
g.121553808G>T
g.121834961G>T
IQCB1(NM_001023570.3):c.-102+5C>A
-
EAF2_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
8
-
c.?
r.(?), r.?
p.(Ala509_Glu529del), p.(Ala547Lys), p.(Ala549Lys), p.(Arg543_Thr555del), p.(Asn340_Leu371del), p.?
-
pathogenic, pathogenic (recessive)
g.?
g.?
659delG, NPHP5 A547K, NPHP5 A549K, NPHP5 del340-371, NPHP5 del509-529, NPHP5 del543-555, p.Arg489*,
1 more item
-
OPA1_000149
NPHP5 is an intrinsic component of centrosomes - distal end near the base of the cilium
PubMed: Barbelanne 2013
,
PubMed: Carrigan 2016
,
PubMed: Consugar 2015
-
-
Germline, In vitro (cloned)
?, yes
-
-
-
-
LOVD
-?/.
1
-
c.162T>C
r.(?)
p.(Tyr54=)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
6
-
c.214C>T
r.(?)
p.(Arg72*)
ACMG
likely pathogenic, pathogenic, pathogenic (recessive)
g.121547366G>A
g.121828519G>A
3:121547366G>A ENST00000310864.6:c.214C>T (Arg72Ter), IQCB1 c.214C>T, p.Arg72Ter,
3 more items
-
IQCB1_000064
heterozygous, VKGL data sharing initiative Nederland
PubMed: Carss 2017
,
PubMed: Jespersgaar 2019
,
PubMed: Sallum 2020
,
PubMed: Stone 2017
,
1 more item
-
-
CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown
?
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
2
-
c.260T>G
r.(?)
p.(Leu87*)
-
likely pathogenic, pathogenic (recessive)
g.121547320A>C
g.121828473A>C
3:121547320A>C ENST00000310864.6:c.260T>G (Leu87Ter), IQCB1 c.260T>G, p.Leu87Ter
-
IQCB1_000063
heterozygous
PubMed: Carss 2017
,
PubMed: Turro 2020
-
-
Germline, Germline/De novo (untested)
?
-
-
-
-
LOVD
+/.
1
-
c.273dup
r.(?)
p.(Val92CysfsTer15)
-
pathogenic
g.121545018dup
g.121826171dup
-
-
IQCB1_000041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/.
2
-
c.333delT
r.(?)
p.(Ala112Glnfs*5)
-
likely pathogenic
g.121544958del
g.121826111del
IQCB1 c.333delT, Ala111del1gcT, IQCB1 c.333delT, p.A111del1gcT
-
IQCB1_000098
error in annotation: p.(Ala112Glnfs*5) and not Ala111del1gcT; heterozygous
PubMed: Cideciyan 2011
,
PubMed: Stone 2011
-
-
Germline
yes
-
-
-
-
LOVD
-?/.
1
-
c.388G>A
r.(?)
p.(Ala130Thr)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.393+15A>G
r.(=)
p.(=)
-
benign
g.121544883T>C
g.121826036T>C
IQCB1(NM_001023570.4):c.393+15A>G
-
IQCB1_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2
-
c.394-1G>A
r.(?), r.spl
p.(?), p.?
ACMG
pathogenic, pathogenic (recessive)
g.121527857C>T
g.121809010C>T
IQCB1 c.394-1G>A; p.?
-
IQCB1_000074
homozygous
PubMed: Porto 2017
,
PubMed: Sallum 2020
-
-
Germline, Unknown
?
-
-
-
-
LOVD
-/.
1
-
c.424T>C
r.(?)
p.(Phe142Leu)
-
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
-
-
-
-
-
VKGL-NL_Utrecht
+/., +?/.
17
6
c.424_425del
r.(?)
p.(Phe142fs*146), p.(Phe142Profs*5), p.(Phe142ProfsTer5)
-
likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive)
g.121527825_121527826del, g.121527828_121527829del
g.121808978_121808979del, g.121808981_121808982del
3:121527824GAA>G ENST00000310864.6:c.424_425delTT (Phe142ProfsTer5), 421_422delTT, c.424_425delTT,
5 more items
-
IQCB1_000040
error in annotation: p.(Phe142Profs*5) and not Phe141del2cacTT; heterozygous, heterozygous, homozygous,
2 more items
PubMed: Barbelanne 2013
,
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
,
9 more items
-
-
Germline, Germline/De novo (untested), In vitro (cloned), Unknown
?, yes
1/899 cases
-
-
-
Global Variome, with Curator vacancy
,
IMGAG
+?/.
6
-
c.424_425delTT
r.(?)
p.(Phe142Profs*5), p.(Phe142ProfsTer5)
-
likely pathogenic
g.121527828_121527829del
g.121808981_121808982del
IQCB1 (KIAA0036) 424–425delTT, F142fsX1, NPHP5 c.424_425delTT, p.F142fsX146
-
IQCB1_000040
homozygous
PubMed: Otto 2005
,
PubMed: Otto 2008
-
-
Germline, Unknown
?, yes
0/155
-
-
-
LOVD
+/.
1
-
c.445_448del
r.(?)
p.(Leu149Serfs*31)
-
pathogenic
g.121527805_121527808del
g.121808958_121808961del
IQCB1 c.445_448delCTCT, p.L149Sfs*30
-
IQCB1_000091
homozygous
PubMed: Shen 2021
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
2
-
c.445_448delCTCT
r.(?)
p.(Leu149Serfs*31)
-
likely pathogenic
g.121527805_121527808del
g.121808958_121808961del
IQCB1 (KIAA0036) 445–448delCTCT, L149fsX1
-
IQCB1_000091
heterozygous, homozygous
PubMed: Otto 2005
-
-
Germline, Unknown
?, yes
0/155
-
-
-
LOVD
+?/.
1
-
c.479_482del
r.(?)
p.(Ile160Argfs*20)
-
likely pathogenic (recessive)
g.121527769_121527772del
g.121808922_121808925del
-
-
IQCB1_000072
-
PubMed: DiIorio 2017
-
-
Germline
-
-
-
-
-
LOVD
-?/.
1
-
c.482A>G
r.(?)
p.(Gln161Arg)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
2
-
c.488-1G>A
r.spl
p.(?)
-
likely pathogenic
g.121526291C>T
g.121807444C>T
IQCB1;NM_001023570.2;c.[488-1G>A];[488-1G>A], NPHP5 c.488 -1G>A, Splice site
-
IQCB1_000084
homozygous
PubMed: Jiman 2020
,
PubMed: Otto 2008
-
-
Germline, Unknown
?, yes
-
-
-
-
LOVD
+?/.
1
-
c.493C>T
r.(?)
p.(Gln165*)
-
likely pathogenic
g.121526285G>A
g.121807438G>A
-
-
IQCB1_000076
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
LOVD
-/.
2
-
c.574C>T
r.(?)
p.(Leu192=)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
-/.
1
-
c.587+38del
r.(=)
p.(=)
-
benign
g.121526161del
g.121807314del
IQCB1(NM_001023570.4):c.587+38delT
-
IQCB1_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-/.
1
-
c.588-16del
r.(=)
p.(=)
-
benign
g.121518246del
g.121799399del
IQCB1(NM_001023570.4):c.588-16delT
-
IQCB1_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-/., -?/.
4
-
c.588T>C
r.(?)
p.(Ser196=)
-
benign, likely benign
g.121518221A>G
g.121799374A>G
1 more item
-
IQCB1_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
?/.
1
-
c.658T>A
r.(?)
p.(Ser220Thr)
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
?
-
-
-
-
LOVD
+/.
1
8
c.658_659delinsG
r.(?)
p.(Ser220Glufs*7)
-
pathogenic (recessive)
g.121518150_121518151delinsC
-
c.658_659delinsG
-
IQCB1_000090
-
PubMed: Colombo-2020
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
1
8
c.686del
r.(?)
p.(Thr229Metfs*8)
-
likely pathogenic (recessive)
g.121518123del
g.121799276del
-
-
IQCB1_000060
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
Germline
-
-
-
-
-
Global Variome, with Curator vacancy
+/.
1
-
c.700_701del
r.(?)
p.(Leu234ThrfsTer5)
-
pathogenic
g.121518108_121518109del
g.121799261_121799262del
-
-
IQCB1_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.708G>C
r.(?)
p.(Leu236Phe)
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
?
-
-
-
-
LOVD
-/.
1
-
c.767-263_767-262del
r.(=)
p.(=)
-
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
-
-
-
-
-
VKGL-NL_Utrecht
-/.
1
-
c.767-262del
r.(=)
p.(=)
-
benign
g.121516350del
g.121797503del
IQCB1(NM_001023570.4):c.767-262delT
-
IQCB1_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-/.
1
-
c.767-260_767-259del
r.(=)
p.(=)
-
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
-
-
-
-
-
VKGL-NL_Utrecht
-/.
1
-
c.767-227_767-226del
r.(=)
p.(=)
-
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
-
-
-
-
-
VKGL-NL_Utrecht
?/.
1
-
c.772del
r.(?)
p.(Arg258Aspfs*4)
-
VUS
g.121516069del
g.121797222del
772delA
-
IQCB1_000071
-
PubMed: Bryant 2018
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
-
c.775C>T
r.(?)
p.(Arg259Cys)
-
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
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.776G>A
r.(?)
p.(Arg259His)
-
likely benign
g.121516065C>T
-
IQCB1(NM_001023570.3):c.776G>A (p.R259H)
-
IQCB1_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
2
-
c.782T>G
r.(?)
p.(Leu261Arg)
-
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
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
+?/.
1
-
c.812del
r.(?)
p.(Ser271Ilefs*11)
-
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
-
-
-
-
LOVD
+?/.
1
-
c.814C>T
r.(?)
p.(Gln272*)
-
likely pathogenic
g.121516027G>A
g.121797180G>A
IQCB1 c.814C>T, p.Gln272Ter
-
IQCB1_000088
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
LOVD
+/.
1
-
c.817G>T
r.(?)
p.(Glu273*)
-
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
-
-
-
Mohammed Faruq
+?/.
3
-
c.825_828del
r.(?)
p.(Arg275Serfs*6)
-
likely pathogenic
g.121516015_121516018del
g.121797168_121797171del
IQCB1 c.825_828del, p.R275SfsX6,
1 more item
-
IQCB1_000087
heterozygous, solved, compound heterozygous
PubMed: Estrada-Cuzcano 2011
,
PubMed: Weisschuh 2020
-
-
Germline, Unknown
?, yes
-
-
-
-
LOVD
+?/.
2
-
c.825_828delACAG
r.(?)
p.(Arg275Serfs*6)
-
likely pathogenic
g.121516015_121516018del
g.121797168_121797171del
IQCB1 (KIAA0036) 825–828delACAG, R275fsX2
-
IQCB1_000087
heterozygous
PubMed: Otto 2005
-
-
Unknown
?
0/155
-
-
-
LOVD
+/.
1
-
c.876+1G>A
r.spl
p.(?)
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
-
-
-
-
LOVD
+?/.
1
-
c.876+1G>T
r.spl
p.?
-
likely pathogenic (recessive)
g.121515964C>A
g.121797117C>A
-
-
IQCB1_000070
-
PubMed: DiIorio 2017
-
-
Germline
-
-
-
-
-
LOVD
-?/.
1
-
c.876+19A>G
r.(=)
p.(=)
-
likely benign
g.121515946T>C
-
IQCB1(NM_001023570.4):c.876+19A>G
-
IQCB1_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.877-46dup
r.(=)
p.(=)
-
benign
g.121514472dup
g.121795625dup
IQCB1(NM_001023570.3):c.877-46dupT
-
IQCB1_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.877-43del
r.(=)
p.(=)
-
benign
g.121514458del
g.121795611del
IQCB1(NM_001023570.4):c.877-43delA
-
IQCB1_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
?/.
1
-
c.877-10G>A
r.(=)
p.(=)
-
VUS
g.121514423C>T
g.121795576C>T
IQCB1(NM_001023570.3):c.877-10G>A
-
IQCB1_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
-
c.897_900dup
r.(?)
p.(Ile301Leufs*42)
-
pathogenic
g.121514392_121514395dup
g.121795545_121795548dup
-
-
IQCB1_000038
-
PubMed: Haer-Wigman 2017
-
-
Germline
yes
-
-
-
-
LOVD
?/.
1
-
c.904C>G
r.(?)
p.(Gln302Glu)
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.958G>A
r.(?)
p.(Ala320Thr)
-
VUS
g.121514332C>T
-
IQCB1(NM_001023570.3):c.958G>A (p.A320T)
-
IQCB1_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.962T>A
r.(?)
p.(Val321Glu)
-
VUS
g.121514328A>T
g.121795481A>T
-
-
IQCB1_000069
-
PubMed: Bryant 2018
-
-
Germline
-
-
-
-
-
LOVD
-?/.
1
-
c.986+5A>C
r.spl?
p.?
-
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
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
15
11
c.994C>T
r.(?)
p.(Arg332*), p.(Arg332Ter)
ACMG
likely pathogenic, pathogenic
g.121509055G>A
g.121790208G>A
c.[994C>T];[994C>T], IQCB1 (KIAA0036) 994C-T, R332X, IQCB1 c.994C>T, p.R332X, NPHP5 R332X,
2 more items
-
IQCB1_000036
heterozygous, homozygous, VKGL data sharing initiative Nederland,
1 more item
PubMed: Barbelanne 2013
,
PubMed: Chen-2013
,
PubMed: Habibi 2020
,
PubMed: Haer-Wigman 2017
,
4 more items
-
-
CLASSIFICATION record, Germline, In vitro (cloned), Unknown
?, yes
0/155, 0/384 controls
-
-
-
VKGL-NL_Nijmegen
+/., +?/.
6
-
c.1036G>T
r.(?)
p.(Glu346*)
-
likely pathogenic, pathogenic, pathogenic (recessive)
g.121509013C>A
g.121790166C>A
3:121509013C>A ENST00000310864.6:c.1036G>T (Glu346Ter), IQCB1 c.1036G>T, Glu346Stop,
1 more item
-
IQCB1_000062
heterozygous
PubMed: Carrigan 2016
,
PubMed: Carss 2017
,
PubMed: Stone 2011
,
PubMed: Stone 2017
,
PubMed: Turro 2020
-
-
Germline, Germline/De novo (untested)
?, yes
-
-
-
-
LOVD
+?/.
2
-
c.1069C>T
r.(?)
p.(Gln357*)
-
likely pathogenic
g.121508980G>A
g.121790133G>A
IQCB1 (KIAA0036) C1069T, Q357X, IQCB1 c.1069C>T, p.Q357X
-
IQCB1_000097
heterozygous
PubMed: Estrada-Cuzcano 2011
,
PubMed: Otto 2005
-
-
Germline, Unknown
?, yes
0/155
-
-
-
LOVD
+/.
1
-
c.1072_1075del
r.(?)
p.(Arg358Profs*2)
-
pathogenic
g.121508976_121508979del
g.121790129_121790132del
c.1072_1075del, p.(Arg358Profs*2)
-
IQCB1_000082
compound heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
LOVD
+?/.
1
-
c.1074_1075dup
r.(?)
p.(Ala359Glufs*3)
-
likely pathogenic
g.121508978_121508979dup
g.121790131_121790132dup
IQCB1 c.1074_1075dup, p.A359EfsX3
-
IQCB1_000096
homozygous
PubMed: Estrada-Cuzcano 2011
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
3
-
c.1076_1077insAG
r.(?)
p.(Met360Alafs*2)
-
likely pathogenic
g.121508972_121508973insCT
g.121790125_121790126insCT
IQCB1 (KIAA0036) 1076–1077insAG, A359fsX3
-
IQCB1_000095
homozygous
PubMed: Otto 2005
-
-
Germline
yes
0/155
-
-
-
LOVD
+/., +?/., ?/.
11
11
c.1090C>T
r.(?)
p.(Arg364*), p.(Arg364Ter)
-
likely pathogenic, pathogenic, VUS
g.121508959G>A
g.121790112G>A
c.1090C>T, c.1090G>A, p.(Arg364*), c.[1090C>T];[1090C>T], IQCB1 c.1090C>T (p.R364X),
1 more item
-
IQCB1_000077
error in annotation: c.1090G>A instead of C>T, compound heterozygous, homozygous,
2 more items
PubMed: Chen-2013
,
PubMed: Otto 2011
,
PubMed: Sun 2018
,
PubMed: Tong 2013
,
PubMed: Wang 2015
,
1 more item
-
-
Germline, Germline/De novo (untested)
?, yes
0/384 controls, 174
-
-
-
LOVD
+/.
2
11
c.1108dup
r.(?)
p.(Met370Asnfs*49)
ACMG
pathogenic
g.121508941dup
g.121790094dup
-
-
IQCB1_000044
-
Sharon, submitted,
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Dror Sharon
?/.
1
-
c.1123C>A
r.(?)
p.(His375Asn)
-
VUS
g.121508926G>T
g.121790079G>T
IQCB1(NM_001023570.4):c.1123C>A (p.H375N)
-
IQCB1_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.1128A>C
r.(?)
p.(Pro376=)
-
likely benign
g.121508921T>G
g.121790074T>G
IQCB1(NM_001023570.3):c.1128A>C (p.P376=)
-
IQCB1_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., ?/.
3
11i
c.1130-1G>C
r.spl?
p.?
-
pathogenic, unclassified
g.121507280C>G
g.121788433C>G
IQCB1:c.1130-1G>C
-
IQCB1_000002
not in 400 control chromosomes
PubMed: Chaki 2011
,
PubMed: Wang 2011
,
Journal: Wang 2011
-
-
Germline
yes
-
-
-
-
Xia Wang
-/., ?/.
4
-
c.1178T>A
r.(?)
p.(Ile393Asn)
-
benign, VUS (!)
g.121507231A>T
g.121788384A>T
IQCB1 I393N p=0.044,
1 more item
-
IQCB1_000016
VKGL data sharing initiative Nederland,
1 more item
PubMed: Fahim 2012
-
-
CLASSIFICATION record, Unknown
?
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
+?/.
1
-
c.1225C>T
r.(?)
p.(Gln409*)
-
likely pathogenic
g.121507184G>A
g.121788337G>A
IQCB1(NM_001023570.2):c.1090C>T(p.R364*)/c.1225C>T(p.Q409*)
-
IQCB1_000099
-
PubMed: Sun 2018
-
-
Germline/De novo (untested)
?
174
-
-
-
LOVD
+?/.
1
-
c.1241_1242del
r.(?)
p.(Leu414HisfsTer4)
-
likely pathogenic
g.121507171_121507172del
g.121788324_121788325del
-
-
IQCB1_000078
-
PubMed: Coppieters 2014
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
-
c.1244_1245del
r.(?)
p.(Ile415Argfs*3)
-
pathogenic
g.121507165_121507166del
g.121788318_121788319del
c.1244_1245del, p.(Ile415Argfs*3)
-
IQCB1_000081
compound heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
LOVD
?/.
1
-
c.1250A>G
r.(?)
p.(Tyr417Cys)
-
VUS
g.121507159T>C
g.121788312T>C
IQCB1(NM_001023570.4):c.1250A>G (p.Y417C)
-
IQCB1_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
1
12
c.1271A>G
r.(?)
p.(Gln424Arg)
-
pathogenic
g.121507138T>C
-
c.1271A/G
-
IQCB1_000079
-
PubMed: Otto 2011
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/.
2
-
c.1278+1G>A
r.spl, r.spl?
p.(?), p.?
-
likely pathogenic, pathogenic (recessive)
g.121507130C>T
g.121788283C>T
3:121507130C>T ENST00000310864.6:c.1278+1G>A, IQCB1 c.1278+1G>A,
-
IQCB1_000061
heterozygous
PubMed: Carss 2017
,
PubMed: Turro 2020
-
-
Germline, Germline/De novo (untested)
?
-
-
-
-
LOVD
+/.
3
12i
c.1278+6T>A
r.1131_1278del
p.Gln378Alafs*2
-
pathogenic, pathogenic (recessive)
g.121507125A>T
g.121788278A>T
-
-
IQCB1_000003
-
PubMed: Srilekha 2015
-
-
Germline
yes
-
-
-
-
Soumittra Nagasamy
-/.
2
-
c.1301G>A
r.(?)
p.(Cys434Tyr)
-
benign
g.121500699C>T
g.121781852C>T
IQCB1(NM_001023570.3):c.1301G>A (p.C434Y)
-
IQCB1_000015
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
-/.
2
-
c.1303C>T
r.(?)
p.(Arg435Cys)
-
benign
g.121500697G>A
g.121781850G>A
IQCB1(NM_001023570.3):c.1303C>T (p.R435C), IQCB1(NM_001023570.4):c.1303C>T (p.R435C)
-
IQCB1_000014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
+?/.
1
-
c.1332G>A
r.(?)
p.(Trp444Ter)
-
likely pathogenic
g.121500668C>T
g.121781821C>T
NPHP5 c.1332G>A, p.W444X
-
IQCB1_000094
homozygous
PubMed: Otto 2008
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
2
13
c.1333C>T
r.(?)
p.(Arg445*)
-
likely pathogenic
g.121500667G>A
g.121781820G>A
-
-
IQCB1_000004
-
-
-
-
Germline
yes
-
-
-
-
Soumittra Nagasamy
+/., +?/., ?/.
6
13
c.1363C>T
r.(?)
p.(Arg445*), p.(Arg455*), p.(Arg455Ter)
-
likely pathogenic, pathogenic (recessive), unclassified
g.121500637G>A
g.121781790G>A
IQCB1 c.1363C>T, Arg455Stop, IQCB1:c.1363C>T
-
IQCB1_000005
heterozygous
PubMed: Chaki 2011
,
PubMed: Consugar 2015
,
PubMed: Hussain 2018
,
PubMed: Stone 2011
-
-
Germline, Germline/De novo (untested)
yes
-
-
-
-
Soumittra Nagasamy
?/.
1
-
c.1364G>A
r.(?)
p.(Arg455Gln)
-
VUS
g.121500636C>T
g.121781789C>T
-
-
IQCB1_000035
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/., +?/.
24
10, 13
c.1381C>T
r.(?)
p.(Arg461*), p.(Arg461Ter)
ACMG
likely pathogenic, pathogenic, pathogenic (recessive)
g.121500619G>A
g.121781772G>A
3:121500619G>A ENST00000310864.6:c.1381C>T (Arg461Ter), c.1381C>T, IQCB1 c.1381c.T, p.R461X,
7 more items
-
IQCB1_000013
heterozygous, homozygous, VKGL data sharing initiative Nederland,
1 more item
Sharon, submitted,
PubMed: Barbelanne 2013
,
PubMed: Carss 2017
,
PubMed: Cideciyan 2011
,
9 more items
-
-
CLASSIFICATION record, Germline, Germline/De novo (untested), In vitro (cloned), Unknown
?, yes
0/155, 1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Dror Sharon
,
VKGL-NL_Rotterdam
+/.
1
-
c.1393T>C
r.(?)
p.(Tyr465His)
-
pathogenic
g.121500607A>G
g.121781760A>G
-
-
IQCB1_000075
-
PubMed: Costa 2017
-
-
Germline
-
-
-
-
-
LOVD
+?/., -?/., ?/.
4
14
c.1441G>A
r.(?)
p.(Glu481Lys)
ACMG
likely benign, likely pathogenic, VUS
g.121491530C>T
g.121772683C>T
IQCB1 c.1441G>A, p.(Glu481Lys), IQCB1/NPHP5:p.[E481K];[=],
1 more item
-
IQCB1_000047
normal 2nd chromosome, single heterozygous variant (recessive), VKGL data sharing initiative Nederland
PubMed: Jespersgaar 2019
,
PubMed: Redin-2012
-
-
CLASSIFICATION record, Germline
?
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
?/.
1
-
c.1448A>G
r.(?)
p.(His483Arg)
-
VUS
g.121491523T>C
-
IQCB1(NM_001023570.3):c.1448A>G (p.H483R)
-
IQCB1_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/., ?/.
13
14
c.1465C>T
r.(?)
p.(Arg489*), p.(Arg489Ter)
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS
g.121491506G>A
g.121772659G>A
c.1465C>T, IQCB1 c.1465c.T, p.R489X, IQCB1 c.1465C>T, Arg489Stop, IQCB1 c.1465C>T, p.R489X,
3 more items
-
IQCB1_000068
heterozygous, homozygous
PubMed: Carrigan 2016
,
PubMed: Cideciyan 2011
,
PubMed: DiIorio 2017
,
PubMed: Estrada-Cuzcano 2011
,
6 more items
-
-
Germline, Unknown
?, yes
-
-
-
-
LOVD
+/.
1
14
c.1479C>A
r.(?)
p.(Tyr493*)
-
pathogenic
g.121491492G>T
g.121772645G>T
-
-
IQCB1_000001
not in 400 control chromosomes
PubMed: Wang 2011
,
Journal: Wang 2011
-
-
Germline
yes
-
-
-
-
Xia Wang
+?/.
1
-
c.1504A>T
r.(?)
p.(Arg502*)
-
likely pathogenic
g.121491467G>A
g.121772620G>A
IQCB1 c.1504A T, p.R502X
-
IQCB1_000073
error in annotation, c.1504 variant causing p.R502X is actually a C>T change; homozygous
PubMed: Estrada-Cuzcano 2011
-
-
Germline
yes
-
-
-
-
LOVD
+/., +?/., ?/.
5
14
c.1504C>T
r.(?)
p.(Arg502*)
ACMG
likely pathogenic, pathogenic, pathogenic (recessive), VUS
g.121491467G>A
g.121772620G>A
IQCB1 c.1504C>T, p.Arg502Ter, IQCB1 c.1S04C>T; p.Arg502Ter, NPHP5 R502X, NPHP5:c.1504C>T
-
IQCB1_000073
heterozygous, homozygous,
1 more item
PubMed: Barbelanne 2013
,
PubMed: Ghessari 2015
,
PubMed: Porto 2017
,
PubMed: Sallum 2020
,
1 more item
-
-
Germline, Germline/De novo (untested), In vitro (cloned), Unknown
?
-
-
-
-
LOVD
-?/.
1
-
c.1505G>A
r.(?)
p.(Arg502Gln)
-
likely benign
g.121491466C>T
g.121772619C>T
IQCB1(NM_001023570.3):c.1505G>A (p.R502Q)
-
IQCB1_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
3
-
c.1516_1517del
r.(?)
p.(His506Glnfs*13)
-
likely pathogenic
g.121491454_121491455del
g.121772607_121772608del
IQCB1 c.1516-1517delCA, His506del2cagCA
-
IQCB1_000059
heterozygous, homozygous
PubMed: Stone 2011
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
6
-
c.1516_1517delCA
r.(?)
p.(His506Glnfs*13)
-
likely pathogenic
g.121491454_121491455del
g.121772607_121772608del
IQCB1 c.1516-1517delCA, His506del2cagCA, IQCB1 c.1516_1517delCA, p.H506del2cagCA
-
IQCB1_000059
heterozygous, homozygous
PubMed: Cideciyan 2011
,
PubMed: Stone 2011
-
-
Germline
yes
-
-
-
-
LOVD
+/., +?/.
13
14
c.1518_1519del
r.(?)
p.(His506fs*518), p.(His506Glnfs*13)
ACMG
likely pathogenic, pathogenic
g.121491452_121491453del, g.121491454_121491455del
g.121772605_121772606del, g.121772607_121772608del
c.1518_1519del, c.1518_1519delCA, IQCB1 c.1518_1519deICA; p.His506GInfsTer13, NPHP5 H506fsX518,
5 more items
-
IQCB1_000059
heterozygous, heterozygous, individual solved, variant non-causal, homozygous,
4 more items
PubMed: Barbelanne 2013
,
PubMed: Estrada-Cuzcano 2011
,
PubMed: Holtan 2020
,
PubMed: Jespersgaar 2019
,
4 more items
-
-
CLASSIFICATION record, Germline, In vitro (cloned), Unknown
?, yes
1/899 cases
-
-
-
Global Variome, with Curator vacancy
,
VKGL-NL_Nijmegen
+?/.
5
-
c.1518_1519delCA
r.(?)
p.(His506Glnfs*13)
-
likely pathogenic
g.121491454_121491455del
g.121772607_121772608del
IQCB1 (KIAA0036) 1518–1519delCA, H506fsX5
-
IQCB1_000059
homozygous
PubMed: Otto 2005
-
-
Germline
yes
0/155
-
-
-
LOVD
+/.
3
-
c.1522_1523dupGA
r.(?)
p.(Ala509Lysfs*3)
-
pathogenic
g.121491451_121491452dup
g.121772604_121772605dup
IQCB1/NPHP5 c.1522_1523dupGA (Hom), p.Ala509Lysfs*3
-
IQCB1_000093
heterozygous, homozygous
PubMed: Kang 2016
-
-
Unknown
?
-
-
-
-
LOVD
+?/.
1
-
c.1532_1536dup
r.(?)
p.(Gln513Ter)
-
likely pathogenic
g.121491436_121491440dup
g.121772589_121772593dup
IQCB1(NM_001023570.3):c.1532_1536dupTAGCA (p.Q513*)
-
IQCB1_000055
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
-
c.1535_1536insATAGC
r.(?)
p.(Gln513*)
-
likely pathogenic
g.121491436_121491440dup
g.121772589_121772593dup
IQCB1 c.1535_1536insATAGC, p.Q512X
-
IQCB1_000055
error in annotation, heterozygous
PubMed: Estrada-Cuzcano 2011
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
1
-
c.1540_1541dup
r.(?)
p.(Thr516Alafs*7)
ACMG
likely pathogenic
g.121491430_121491431dup
g.121772583_121772584dup
-
-
IQCB1_000007
-
PubMed: Trujillano 2017
-
-
Germline
-
-
-
-
-
Daniel Trujillano
-?/., ?/.
4
-
c.1549A>T
r.(?)
p.(Asn517Tyr)
ACMG
likely benign, VUS
g.121491422T>A
g.121772575T>A
IQCB1(NM_001023570.3):c.1549A>T (p.N517Y), IQCB1(NM_001023570.4):c.1549A>T (p.N517Y),
1 more item
-
IQCB1_000011
heterozygous, individual solved, variant non-causal, VKGL data sharing initiative Nederland
PubMed: Rodriguez-Munoz 2020
-
-
CLASSIFICATION record, Germline
?
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
+?/.
6
14
c.1558C>T
r.(?)
p.(Gln520*), p.(Gln520Ter)
-
likely pathogenic, likely pathogenic (recessive)
g.121491413G>A
g.121772566G>A
IQCB1, variant 1: c.1558C>T/p.Q520*, variant 2: c.1558C>T/p.Q520*
-
IQCB1_000006
solved, homozygous
PubMed: Weisschuh 2016
,
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
Soumittra Nagasamy
-?/.
1
-
c.1567+111A>G
r.(=)
p.(=)
-
likely benign
g.121491293T>C
g.121772446T>C
IQCB1(NM_001023570.3):c.1567+111A>G
-
IQCB1_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.1568-19del
r.(=)
p.(=)
-
benign
g.121489442del
g.121770595del
IQCB1(NM_001023570.3):c.1568-19delT
-
IQCB1_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.1595G>A
r.(?)
p.(Gly532Glu)
-
likely benign
g.121489394C>T
g.121770547C>T
IQCB1(NM_001023570.3):c.1595G>A (p.G532E)
-
IQCB1_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
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