Global Variome shared LOVD
CRB1 (crumbs homolog 1 (Drosophila))
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Curator:
Frans Cremers
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Unique variants in the CRB1 gene
This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_201253.2 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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
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.
582 entries on 6 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
+/., +?/+?, +?/., -/., ?/.
13
-
c.?
r.(?), r.?
p.?
-
benign, likely pathogenic, likely pathogenic (recessive), pathogenic, VUS
g.?
-
3101T>C / Leu989Thr, 6147T>C, 652+2G>T, c.1922-1G > C NA, c.G1613A p.W538X, V13361,
7 more items
-
NPHS1_000138, NPHS2_000000
Mother healthy heterozygous carrier
PubMed: Booij 2005
,
PubMed: Hameed 2003
;
PubMed: Booij 2005
,
PubMed: Jacobson 2007
,
PubMed: Wang 2015
,
3 more items
-
-
Germline
yes
-
-
-
-
Julia Lopez
?/.
1
-
c.-68771C>T
r.(?)
p.(=)
-
VUS
g.197168772C>T
g.197199642C>T
ZBTB41(NM_194314.2):c.832G>A (p.(Asp278Asn))
-
ZBTB41_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
-
c.-68724_-68720del
r.(?)
p.(=)
-
VUS
g.197168819_197168823del
g.197199689_197199693del
ZBTB41(NM_194314.2):c.784_788del (p.(Lys262Ter))
-
CRB1_000296
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
2
_1_12_
c.(?_-1)_(*1_?)del
r.0
p.0
-
pathogenic
g.(?_197237542)_(197447010_?)del
-
700KB del, deletion of CRB1
-
CRB1_000000
CRB1 deleted, unknown variant 2nd chromosome; CRB1 deleted
PubMed: Aleman 2011
,
PubMed: Stone 2007
-
-
Germline, Unknown
-
-
-
-
-
Frans Cremers
?/.
1
_1
-
r.(?)
p.(=)
ACMG
VUS
g.197170569del
g.197201439del
NM_001257965.1:c.-362delC
-
CRB1_000559
Compound heterozygous novel variant in 5'UTR along with another heterozygous variant
-
-
-
Germline
yes
-
-
-
-
Srilekha Sundar
+/.
1
1
c.2T>C
r.(?)
p.(?)
ACMG
pathogenic
g.197237544T>C
g.197268414T>C
c.2T>C
-
CRB1_000417
heterozygous, causative variant
PubMed: Hosono2018
-
-
Germline
yes
-
-
-
-
LOVD
-?/.
1
-
c.9T>C
r.(?)
p.(Leu3=)
-
likely benign
g.197237551T>C
-
CRB1(NM_201253.3):c.9T>C (p.L3=)
-
CRB1_000564
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
1
c.14A>G
r.(?)
p.(Asn5Ser)
-
benign
g.197237556A>G
g.197268426A>G
-
-
CRB1_000032
-
PubMed: Neveling 2012
-
-
Germline
no
-
-
-
-
Kornelia Neveling
-/.
1
1
c.27T
r.(?)
p.?
-
benign
g.197237569G>T
-
27G?T
-
CRB1_000408
-
PubMed: Li-2009
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
-
c.40C>T
r.(?)
p.(Leu14Phe)
-
VUS
g.197237582C>T
g.197268452C>T
-
-
CRB1_000409
-
PubMed: Wang 2014
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/.
2
1
c.57dup
r.(?)
p.(Ile20Tyrfs*10)
-
likely pathogenic (recessive), pathogenic
g.197237599dup
g.197268469dup
c.55_56insT, Leu19 ins1
-
CRB1_000232
unknown variant 2nd chromosome
PubMed: DiIorio 2017
,
PubMed: Stone 2007
-
-
Germline, Unknown
-
-
-
-
-
Frans Cremers
+?/.
1
-
c.70+1G>A
r.spl
p.(?)
ACMG
likely pathogenic
g.197237613G>A
g.197268483G>A
allele 1: c.70+1G>A/p.?, allele 2: c.2042G>A/p.C681Y
-
CRB1_000435
heterozygous
PubMed: Weisschuh 2018
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
1
1i
c.70+5G>A
r.spl?
p.(?)
-
likely pathogenic
g.197237617G>A
g.197268487G>A
IVS1+5g>a
-
CRB1_000233
-
PubMed: Preising 2007
-
-
Germline
-
-
-
-
-
Frans Cremers
+?/.
1
-
c.71-6239_849-326dup
r.?
p.?
-
likely pathogenic
g.197291313_197316144dup
-
dup ex4-5, chr1:197291313-197316144dup
-
CRB1_000343
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
LOVD
-/.
2
-
c.71-12A>T
r.(=)
p.(=)
-
benign
g.197297540A>T
g.197328410A>T
CRB1(NM_001257965.2):c.-137-12A>T
-
CRB1_000239
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
+?/.
1
2
c.80G>C
r.(?)
p.(Cys27Ser)
-
likely pathogenic
g.197297561G>C
g.197328431G>C
C->F
-
CRB1_000062
unknown variant 2nd chromosome
PubMed: Li 2007
-
-
Germline
-
-
HpyCH4V-
-
-
Frans Cremers
+?/.
10
2
c.80G>T
r.(?)
p.(Cys27Phe)
-
likely pathogenic, likely pathogenic (recessive)
g.197297561G>T
g.197328431G>T
c.80G>C, c.80G>T
-
CRB1_000063
-
PubMed: Abu-Safieh 2013
,
PubMed: Aldahmesh 2009
,
PubMed: Khan 2013
,
PubMed: Liu-2020
,
1 more item
-
-
Germline, Unknown
-
-
HpyCH4V-
-
-
Frans Cremers
+/.
1
-
c.83dup
r.(?)
p.(Asn28Lysfs*2)
-
pathogenic
g.197297564dup
g.197328434dup
-
-
CRB1_000271
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+/.
2
2
c.93C>T
r.(=)
p.(=)
-
pathogenic
g.197297574C>T
-
93C?T
-
CRB1_000410
-
PubMed: Li-2009
-
-
Germline, Unknown
-
-
-
-
-
LOVD
?/.
1
-
c.99del
r.(?)
p.(Arg33SerfsTer38)
-
VUS
g.197297580del
g.197328450del
98del
-
CRB1_000380
-
PubMed: Wang 2015
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
-
c.107C>A
r.(?)
p.(Ser36*)
-
VUS
g.197297588C>A
g.197328458C>A
CRB1 nucleotide 1, protein 1:c.107C>A, p.Ser36*
-
CRB1_000500
homozygous, ACMG unclassified - no access to supplementary table 2
PubMed: Hull 2020
-
-
Germline
?
-
-
-
-
LOVD
+/., +?/.
3
2
c.107C>G
r.(?)
p.(Ser36*)
-
likely pathogenic (recessive), pathogenic
g.197297588C>G
g.197328458C>G
-
-
CRB1_000064
-
PubMed: Holtan 2020
,
PubMed: Mckibbin 2010
-
-
Germline
-
1/899 cases
Hpy188I+
-
-
Global Variome, with Curator vacancy
,
Frans Cremers
+/.
3
2
c.112del
r.(?)
p.(Ser38Leufs*33)
-
pathogenic
g.197297593del
g.197328463del
1 bp del codon 37, Asn37 del1
-
CRB1_000065
unknown variant 2nd chromosome
PubMed: Lotery 2001
,
PubMed: Stone 2007
-
-
Unknown
-
1/190 cases
ApoI-
-
-
Frans Cremers
+?/., -?/., ?/.
10
2
c.135C>G
r.(?)
p.(Cys45Trp)
ACMG
likely benign, likely pathogenic, VUS
g.197297616C>G
g.197328486C>G
c.135C>G, CRB1 c.135 C>G, p.(Cys45Trp), CRB1 c.135C>G, p.(Cys45Trp),
1 more item
-
CRB1_000031
predicted to affect function, but insufficient evidence for definite conclusion,
4 more items
PubMed: Clark 2010
,
PubMed: González-del Pozo-2011
,
PubMed: Jespersgaar 2019
,
PubMed: Neveling 2012
,
1 more item
-
-
CLASSIFICATION record, Germline
?, no
-
BsmI+
-
-
Kornelia Neveling
,
Frans Cremers
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/., +?/.
6
2
c.138del
r.(?)
p.(Asp47Ilefs*24)
-
likely pathogenic, pathogenic, pathogenic (recessive)
g.197297619del
g.197328489del
c.137delA, c.138delA, c.138delA (p.Asp47IlefsX24), c.[136delA]
-
CRB1_000066
-
PubMed: Huang 2014
,
PubMed: Huang 2018
,
PubMed: Li 2014
,
PubMed: Lu-2016
-
-
Germline
yes
-
-
-
-
Frans Cremers
+/., +?/.
2
2
c.139del
r.(?)
p.(Asp47Ilefs*24)
ACMG
likely pathogenic (recessive), pathogenic
g.197297620del
g.197328490del
c.139delG, NM_201253.2:c.139del, NP_957705.1:p.(Asp47IlefsTer24), NC_000001.10:g.197297620del
-
CRB1_000424
-
PubMed: Liu-2020
,
PubMed: Wang 2018
-
-
Germline
?
-
-
-
-
LOVD
+/.
1
-
c.140dup
r.(?)
p.(Asp47Glufs*7)
-
pathogenic
g.197297621dup
g.197328491dup
-
-
CRB1_000272
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
-?/.
1
-
c.142T>A
r.(?)
p.(Phe48Ile)
-
likely benign
g.197297623T>A
-
CRB1(NM_201253.2):c.142T>A (p.F48I)
-
CRB1_000322
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.161G>T
r.(?)
p.(Cys54Phe)
-
VUS
g.197297642G>T
g.197328512G>T
-
-
CRB1_000411
-
PubMed: Wang 2014
-
rs140428156
Germline
-
-
-
-
-
LOVD
-?/.
1
-
c.207C>T
r.(?)
p.(Asn69=)
-
likely benign
g.197297688C>T
-
CRB1(NM_201253.2):c.207C>T (p.N69=)
-
CRB1_000338
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
1
2
c.253_254insAA
r.(?)
p.(Cys85*)
-
pathogenic
g.197297734_197297735insAA
g.197328604_197328605insAA
p.Cys85ins2
-
CRB1_000067
-
PubMed: Aleman 2011
-
-
Germline
-
-
AflII+;MseI+;SmlI+
-
-
Frans Cremers
+/.
1
-
c.254G>A
r.(?)
p.(Cys85Tyr)
-
pathogenic (recessive)
g.197297735G>A
-
1:197297735G>A ENST00000367400.3:c.254G>A (Cys85Tyr)
-
CRB1_000325
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
LOVD
+/.
6
2
c.257_258dup
r.(?)
p.(Asn87*)
-
pathogenic
g.197297738_197297739dup
g.197328608_197328609dup
2 bp ins codon 86-87, 252_253insTG, 86–87ins2bp, Cys85 ins2
-
CRB1_000068
unknown variant 2nd chromosome
PubMed: Ge 2015
,
PubMed: Jacobson 2003
,
PubMed: Lotery 2001
,
PubMed: Stone 2007
-
-
Germline, Unknown
-
1/190 cases
-
-
-
Frans Cremers
-?/.
2
-
c.276G>C
r.(?)
p.(Arg92Ser)
-
likely benign
g.197297757G>C
g.197328627G>C
CRB1(NM_001193640.1):c.276G>C (p.(Arg92Ser)), CRB1(NM_001257965.1):c.69G>C (p.R23S)
-
CRB1_000297
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
+?/.
2
2
c.276_294delinsTGAACACTGTAC
r.(?)
p.(Arg92Serfs*54)
ACMG
likely pathogenic, likely pathogenic (recessive)
g.197297757_197297775delinsTGAACACTGTAC
g.197328627_197328645delinsTGAACACTGTAC
c.276_294delinsTGAACACTGTAC, CRB1 c.276 294deIinsTGAACACTGTAC; p. Arg92SerfsTer54
-
CRB1_000501
heterozygous
PubMed: Motta-2017
,
PubMed: Sallum 2020
-
-
Germline, Unknown
?
-
-
-
-
LOVD
?/.
1
-
c.278G>C
r.(?)
p.(Ser93Thr)
-
VUS
g.197297759G>C
g.197328629G>C
-
-
CRB1_000273
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+/.
1
-
c.288C>A
r.(?)
p.(Cys96*)
ACMG
pathogenic
g.197297769C>A
g.197328639C>A
CRB1 NM_201253: g.127178C>A, c.288C>A, p.C96X
-
CRB1_000466
-
PubMed: Xu 2020
-
-
Unknown
?
-
-
-
-
LOVD
+/.
2
2
c.358C>T
r.(?)
p.(Gln120*)
-
pathogenic
g.197297839C>T
g.197328709C>T
c.258C>T
-
CRB1_000069
-
PubMed: Simonelli 2007
-
-
Germline
-
-
-
-
-
Frans Cremers
+?/.
1
-
c.361del
r.(?)
p.(His121MetfsTer27)
-
likely pathogenic
g.197297842del
g.197328712del
CRB1(NM_001257965.2):c.154delC (p.H52Mfs*27)
-
CRB1_000298
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/.
3
2
c.407G>A
r.(?)
p.(Cys136Tyr)
-
likely pathogenic, likely pathogenic (recessive), pathogenic
g.197297888G>A
g.197328758G>A
c.407G>A, CRB1, variant 1: c.407G>A/p.C136Y, variant 2 :Duplication exon 8
-
CRB1_000369
possibly solved, compound heterozygous
PubMed: Stingl-2019
,
PubMed: Weisschuh 2016
,
PubMed: Weisschuh 2020
-
-
Germline, Unknown
?
-
-
-
-
LOVD
+?/.
1
-
c.410del
r.(?)
p.(Pro137Leufs*11)
ACMG
likely pathogenic
g.197297891del
g.197328761del
allele 1: c.410del/p.P137Lfs*11, allele 2: c.2843G>A/p.C948Y
-
CRB1_000436
heterozygous
PubMed: Weisschuh 2018
-
-
Germline
?
-
-
-
-
LOVD
+/.
4
2
c.424G>T
r.(?)
p.(Gly142*)
ACMG
pathogenic
g.197297905G>T
g.197328775G>T
-
-
CRB1_000070
-
Sharon, submitted,
PubMed: Beryozkin 2013
,
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Dror Sharon
,
Frans Cremers
+/., +?/.
3
2
c.428_432del
r.(?)
p.(Arg143Metfs*2)
-
likely pathogenic, pathogenic
g.197297909_197297913del
g.197328779_197328783del
428_432delGATTC, 5 bp del 143-144, Arg143 del5
-
CRB1_000216
unknown variant 2nd chromosome
PubMed: Lotery 2001
,
PubMed: Stone 2007
,
PubMed: Stone 2017
-
-
Germline, Unknown
-
1/190 cases
HinfI-;MboII-;TfiI-
-
-
Frans Cremers
+?/.
3
2
c.430T>G
r.(?)
p.(Phe144Val)
-
likely pathogenic
g.197297911T>G
g.197328781T>G
Phe144Val,
1 more item
-
CRB1_000217
compound heterozygous, unknown variant 2nd chromosome
PubMed: Lotery 2001
,
PubMed: Martin Merida 2019
,
PubMed: Stone 2007
-
-
Germline, Unknown
yes
1/190 cases
EarI+;MlyI+;PleI+;TfiI-
-
-
Frans Cremers
+/.
1
2
c.433T>C
r.(?)
p.(Cys145Arg)
-
pathogenic
g.197297914T>C
g.197328784T>C
-
-
CRB1_000237
-
PubMed: Li 2017
-
-
Germline
yes
-
-
-
needs Curator approval
James Hejtmancik
?/.
1
-
c.444_452del
r.(?)
p.(Asp148_Asp150del)
-
VUS
g.197297925_197297933del
g.197328795_197328803del
NM_201253, c.444_452del, p.Asp148_Asp150del
-
CRB1_000425
-
PubMed: Ezquerra-Inchausti 2018
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
4
2
c.455G>A
r.(?)
p.(Cys152Tyr)
ACMG
likely pathogenic
g.197297936G>A
g.197328806G>A
-
-
CRB1_000218
-
Sharon, submitted,
PubMed: Beryozkin 2013
,
PubMed: Huang 2014
,
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
,
Dror Sharon
,
Frans Cremers
+?/.
1
2
c.470G>C
r.(?)
p.(Cys157Ser)
-
likely pathogenic
g.197297951G>C
g.197328821G>C
-
-
CRB1_000025
-
PubMed: Henderson 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., +?/.
8
2
c.481dup
r.(?)
p. (Ala161Glyfs*8), p.(Ala161Glyfs*8)
-
likely pathogenic, pathogenic
g.197297962dup
g.197328832dup
c.478-481 insG FS, c.481dupG, CRB1 Ex.2 c.481dup p.(Ala161Glyfs*8), Ex.7 c.2488A>T p.(Ile830Phe),
1 more item
-
CRB1_000209
compound heterozygous, unknown variant 2nd chromosome
PubMed: Bernal 2003
,
PubMed: Corton 2013
,
PubMed: Martin Merida 2019
,
PubMed: Vallespin 2007
-
-
Germline
yes
-
-
-
-
Frans Cremers
+?/.
2
2
c.481G>A
r.(?)
p.(Ala161Thr)
ACMG
likely pathogenic
g.197297962G>A
g.197328832G>A
CRB1 Ex.2 c.481G>A p.(Ala161Thr), IVS2 c.653-1G>T p.(?), CRB1:NM_201253 c.G481A, p.A161T
-
CRB1_000452
compound heterozygous, heterozygous, individual solved, variant causal
PubMed: Martin Merida 2019
,
PubMed: Rodriguez-Munoz 2020
-
-
Germline, Germline/De novo (untested)
?, yes
-
-
-
-
LOVD
+/., +?/.
3
2
c.482C>T
r.(?)
p.(Ala161Val)
-
likely pathogenic, pathogenic
g.197297963C>T
g.197328833C>T
617C>T, c.482C>T
-
CRB1_000210
not in 100 controls
PubMed: Collin-2011
,
PubMed: den Hollander 1999
-
-
Germline
-
0/360 controls
BceAI-;HaeIII-;NlaIV-;Sau96I-
-
-
Frans Cremers
-?/.
1
-
c.483C>T
r.(?)
p.(Ala161=)
-
likely benign
g.197297964C>T
g.197328834C>T
CRB1(NM_001257965.2):c.276C>T (p.A92=)
-
CRB1_000310
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/., -/., -?/., ?/.
10
2
c.484G>A
r.(?)
p.(Val162Met), p.Val162Met)
-
benign, likely benign, likely pathogenic, VUS
g.197297965G>A
g.197328835G>A
c.484G>A, c.619G>A, CRB1(NM_001257965.1):c.277G>A (p.V93M)
-
CRB1_000035
conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous;
Clinindb (India)
,
3 more items
PubMed: Mckay 2005
,
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Neveling 2012
,
1 more item
-
rs137853138
CLASSIFICATION record, Germline, Unknown
no
3/2795 individuals
CviAII+;FatI+;NlaIII+;BceAI-
-
-
Kornelia Neveling
,
Frans Cremers
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
Mohammed Faruq
+?/.
1
-
c.487T>G
r.(?)
p.(Cys163Gly)
ACMG
likely pathogenic
g.197297968T>G
g.197328838T>G
CRB1:NM_201253 c.T487G, p.C163G
-
CRB1_000475
heterozygous, individual solved, variant non-causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
LOVD
+/.
3
-
c.493_501del
r.(?)
p.(Ile167_Gly169del)
-
pathogenic (recessive)
g.197297974_197297982del, g.197297979_197297987del
g.197328849_197328857del
1:197297973GGATGGAATT>G ENST00000367400.3:c.498_506delAATTGATGG (Ile167_Gly169del)
-
CRB1_000211, CRB1_000326
-
PubMed: Carss 2017
,
PubMed: Zaneveld 2015
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/., ?/.
44
2
c.498_506del
r.(?)
p.(Ile167_Gly169del), p.Ile167_Gly169del
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS
g.197297979_197297987del, g.197328849_197328857del
g.197328849_197328857del
493_501delGATGGAATT, 493_501delGATGGAATT/1183G>A, c.498_506del, c.498_506del9,
10 more items
-
CRB1_000211, CRB1_000241
compound heterozygous, heterozygous, heterozygous, probably non-causal incidental finding, homozygous,
7 more items
PubMed: Birtel 2018
,
PubMed: Bravo-Gil 2017
,
PubMed: Corton 2013
,
PubMed: Gliem 2020
,
PubMed: Zhu 2022
,
14 more items
-
rs748136623
CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown
?, yes
3/486 individuals
MluCI-
-
-
Andreas Laner
,
Frans Cremers
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
,
Nereida Bravo Gil
+?/.
1
-
c.498_510del
r.(?)
p.(Ile167ProfsTer35)
-
likely pathogenic
g.197297979_197297991del
g.197328849_197328861del
498_506delAATTGATGGTTA
-
CRB1_000356
-
PubMed: Ellingford 2016
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/.
6
2
c.506del
r.(?)
p.(Gly169Valfs*37)
-
likely pathogenic, pathogenic
g.197297987del
g.197328857del
c.506del, CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c. 3086T>A/p.V1029E, G169VfsX37,
1 more item
-
CRB1_000212
possibly solved, compound heterozygous, solved, compound heterozygous
PubMed: Glockle 2013
,
PubMed: Stingl-2019
,
PubMed: Weisschuh 2020
-
-
Germline, Unknown
?, yes
-
-
-
-
Frans Cremers
?/.
1
-
c.508T>C
r.(?)
p.(Tyr170His)
ACMG
VUS
g.197297989T>C
g.197328859T>C
CRB1 c.508T>C, p.(Tyr170His), c.2843G>A, p.(Cys948Tyr)
-
CRB1_000437
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
LOVD
-?/.
1
-
c.519C>T
r.(?)
p.(Phe173=)
-
likely benign
g.197298000C>T
g.197328870C>T
CRB1(NM_001257965.2):c.312C>T (p.F104=)
-
CRB1_000242
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
1
2
c.522T>A
r.(?)
p.(Cys174*)
-
pathogenic
g.197298003T>A
g.197328873T>A
Cys174STOP
-
CRB1_000213
unknown variant 2nd chromosome
PubMed: Stone 2007
-
-
Unknown
-
-
-
-
-
Frans Cremers
+/., +?/.
2
2
c.547T>C
r.(?)
p.(Cys183Arg)
-
likely pathogenic, pathogenic (recessive)
g.197298028T>C
g.197328898T>C
c.547T>C
-
CRB1_000357
-
PubMed: Maggi_2021
,
PubMed: Tiwari 2016
-
-
Germline
-
-
-
-
-
LOVD
+?/.
1
2
c.548G>A
r.(?)
p.(Cys183Tyr)
-
likely pathogenic
g.197298029G>A
g.197328899G>A
c.548G>A, p.(Cys183Tyr)
-
CRB1_000453
Homozygous
PubMed: Tayebi 2019
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
9
2
c.584G>T
r.(?)
p.(Cys195Phe)
-
likely pathogenic, likely pathogenic (recessive)
g.197298065G>T
g.197328935G>T
c.584G>T, Cys195Phe
-
CRB1_000214
unknown variant 2nd chromosome
PubMed: den Hollander 2004
,
PubMed: Ellingford 2016
,
PubMed: Khan-2018
,
PubMed: Stone 2007
,
2 more items
-
-
Germline, Unknown
-
-
Hpy188III+;HpyAV+;HpyCH4V-;LpnPI-
-
-
Frans Cremers
?/.
1
-
c.586A>G
r.(?)
p.(Lys196Glu)
-
VUS
g.197298067A>G
g.197328937A>G
-
-
CRB1_000274
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
-/., -?/.
2
-
c.600A>G
r.(?)
p.(Thr200=)
-
benign, likely benign
g.197298081A>G
g.197328951A>G
CRB1(NM_001257965.1):c.393A>G (p.T131=), CRB1(NM_001257965.2):c.393A>G (p.T131=)
-
CRB1_000243
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
+?/.
1
2
c.610_612del
r.(?)
p.(Glu204del)
-
likely pathogenic
g.197298091_197298093del
g.197328961_197328963del
p.Glu204del7
-
CRB1_000215
-
PubMed: Aleman 2011
-
-
Germline
-
-
-
-
-
Frans Cremers
+/.
1
2
c.611_617delAAATAGG
r.(?)
p.(Ile205Aspfs*13)
-
pathogenic
g.197298092_197298098delAAATAGG
-
c.611_617delAAATAGG
-
CRB1_000423
-
PubMed: Avila Fernandez 2010
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
-
c.612_621del
r.(?)
p.(Glu204Aspfs*13)
-
pathogenic
g.197298093_197298102del
-
CRB1(NM_001257965.2):c.405_414delAATAGGAAGA (p.E135Dfs*13)
-
CRB1_000448
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/., +?/.
34
2
c.613_619del
r.(?)
p.(Ile205Aspfs*13), p.(Ile205AspfsTer13)
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive)
g.197298094_197298100del
g.197328964_197328970del
610_616delGAAATAG, 611_617del, 613_619delATAGGAA, 7 bp del 204-07, 7 bp del 204-207, 7 bp del 612-619,
12 more items
-
CRB1_000175
compound heterozygous, homozygous, not in 180 controls, not in 96 controls,
2 more items
PubMed: Avila-Fernandez 2010
,
PubMed: Bravo-Gil 2017
,
PubMed: Bujakowska 2012
,
PubMed: Consugar 2015
,
15 more items
-
-
Germline, Germline/De novo (untested), Unknown
?, yes
1/143 cases, 2/190 cases
-
-
-
Johan den Dunnen
,
Frans Cremers
,
Nereida Bravo Gil
+/., +?/., ?/.
20
2
c.614T>C
r.(?)
p.(Ile205Thr), p.Ile205Thr
ACMG
likely pathogenic, likely pathogenic (recessive), pathogenic, VUS
g.197298095T>C
g.197328965T>C
ATA>ACA, c.614T>C, CRB1 c.614T>C, p.(Ile205Thr), CRB1:NM_201253 c.T614C, p.I205T,
1 more item
-
CRB1_000002
heterozygous, individual solved, variant non-causal, single heterozygous variant (recessive),
4 more items
PubMed: Bernal 2003
,
PubMed: Booij 2011
,
PubMed: Costa 2017
,
PubMed: Henderson 2010
,
6 more items
-
-
CLASSIFICATION record, Germline
?, no
1/899 cases
LpnPI+
-
-
Global Variome, with Curator vacancy
,
Johan den Dunnen
,
Kornelia Neveling
,
Frans Cremers
,
VKGL-NL_Rotterdam
,
VKGL-NL_AMC
+/., ?/.
2
2
c.631A>T
r.(?)
p.(Ile211Phe)
-
pathogenic (recessive), VUS
g.197298112A>T
g.197328982A>T
CRB1 p.Ile211Phe, p.Ile211Phe
-
CRB1_000177
unknown variant 2nd chromosome
PubMed: Anasagasti 2013
,
PubMed: Anasagasti-2013
-
-
Germline
yes
0.01, 0.33
-
-
-
Frans Cremers
+/.
1
-
c.635G>A
r.(?)
p.(Cys212Tyr)
-
pathogenic (recessive)
g.197298116G>A
g.197328986G>A
-
-
CRB1_000397
-
PubMed: Zaneveld 2015
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
-
c.652+1del
r.spl?
p.(Gly218ValfsTer2)
-
pathogenic
g.197298134del
g.197329004del
-
-
CRB1_000275
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+?/.
1
-
c.652+1_652+4del
r.spl
p.?
-
likely pathogenic
g.197298136_197298139del
g.197329006_197329009del
-
-
CRB1_000179
-
PubMed: Oishi 2016
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
2i
c.652+2dup
r.spl
p.?
-
pathogenic
g.197298135dup
g.197329005dup
c.652+1_652+2insT
-
CRB1_000178
-
PubMed: Kuniyoshi 2015
-
-
Germline
-
-
-
-
-
Frans Cremers
+/.
1
2i
c.652+3_652+6del
r.spl
p.?
-
pathogenic
g.197298136_197298139del
g.197329006_197329009del
c.652+1_652+4delGTAA
-
CRB1_000179
-
PubMed: Kuniyoshi 2015
-
-
Germline
-
-
-
-
-
Frans Cremers
+?/.
2
2i
c.653-1G>T
r.(?)
p.(?)
-
likely pathogenic
g.197313410G>T
g.197344280G>T
CRB1 Ex.2 c.481G>A p.(Ala161Thr), IVS2 c.653-1G>T p.(?),
1 more item
-
CRB1_000454
compound heterozygous
PubMed: Martin Merida 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
LOVD
+/.
1
-
c.663T>A
r.(?)
p.(Cys221Ter)
-
pathogenic
g.197313421T>A
g.197344291T>A
-
-
CRB1_000381
-
PubMed: Wang 2015
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
-
c.663_664del
r.(?)
p.(Cys221*)
-
pathogenic
g.197313421_197313422del
g.197344291_197344292del
c.663_664del, p.Cys221Ter
-
CRB1_000480
heterozygous
PubMed: Zampaglione-2020
-
-
Unknown
?
-
-
-
-
LOVD
+?/., -?/., ?/.
9
-
c.664G>A
r.(?)
p.(Glu222Lys)
-
likely benign, likely pathogenic (recessive), VUS
g.197313422G>A
g.197344292G>A
CRB1 c.664G>A, p.E222K, CRB1(NM_001257965.2):c.457G>A (p.E153K)
-
CRB1_000276
no zygosity and pathogenicity classification indicated, VKGL data sharing initiative Nederland
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
,
PubMed: Ng 2021
,
PubMed: Xu 2014
-
rs114846212
CLASSIFICATION record, Germline, Unknown
?
37/1204 cases with retinitis pigmentosa, 6/314 case chromosomes
-
-
-
VKGL-NL_AMC
,
Yoshito Koyanagi
+/.
1
3
c.668dupT
r.(?)
p.(Leu223PhefsTer4)
ACMG
pathogenic
g.197313426dup
g.197344296dup
c.668dupT
-
CRB1_000418
heterozygous, causative variant
PubMed: Hosono2018
-
-
Germline
yes
-
-
-
-
LOVD
?/.
1
-
c.709G>C
r.(?)
p.(Ala237Pro)
-
VUS
g.197313467G>C
-
CRB1(NM_001257965.1):c.502G>C (p.A168P)
-
CRB1_000339
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
-
c.715T>C
r.(?)
p.(Cys239Arg)
-
likely pathogenic
g.197313473T>C
g.197344343T>C
c.715T>C, p.(Cys239Arg)
-
CRB1_000455
heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
LOVD
+?/.
1
3
c.717_718insG
r.(?)
p.(Gln240Alafs*21)
-
likely pathogenic
g.197313475_197313476insG
g.197344345_197344346insG
Q240fsX20*
-
CRB1_000014
-
PubMed: Henderson 2010
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
3
c.733del
r.(?)
p.(Ala245Profs*57)
-
pathogenic
g.197313491del
-
c.733del
-
CRB1_000532
-
PubMed: Stingl-2019
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
3
c.733dupG
r.(?)
p.(Ala245GlyfsTer16)
ACMG
pathogenic
g.197344361dup
g.197313491dup
c.733dupG
-
CRB1_000419
heterozygous, causative variant
PubMed: Hosono2018
-
-
Germline
yes
-
-
-
-
LOVD
+?/+?
1
3
c.749_751del
r.(?)
p.(Cys250_Ala251delinsSer)
-
likely pathogenic (recessive)
g.197313507_197313509del
-
749del3bp
-
CRB1_000403
-
PubMed: Jacobson 2007
-
-
Germline
-
-
-
-
-
Julia Lopez
+/., +?/.
14
3
c.750T>G
r.(?)
p.(Cys250Trp)
-
likely pathogenic, pathogenic
g.197313508T>G
g.197344378T>G
885T>G
-
CRB1_000009
not in 100 controls
PubMed: den Hollander 1999
,
PubMed: Henderson 2010
-
-
Germline
-
-
ApaI+;BanII+;BmrI+;BsrI+;PspOMI+;HpyCH4III-
-
-
Johan den Dunnen
,
Frans Cremers
?/.
1
-
c.757G>A
r.(?)
p.(Gly253Arg)
-
VUS
g.197313515G>A
g.197344385G>A
-
-
CRB1_000277
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
Yoshito Koyanagi
+/.
1
-
c.781+2T>A
r.spl
p.?
ACMG
pathogenic
g.197313541T>A
-
-
-
CRB1_000318
-
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
Global Variome, with Curator vacancy
+/., +?/.
2
3
c.803_806del
r.(?)
p.(Ser268Asnfs*33)
-
likely pathogenic, pathogenic
g.197313561_197313564del
g.197344431_197344434del
c.803_806del, CRB1, variant 1: c.803_806del/p.S268Nfs*33, variant 2: c.2234C>T/p.T745M
-
CRB1_000488
solved, compound heterozygous
PubMed: Stingl-2019
,
PubMed: Weisschuh 2020
-
-
Germline, Unknown
?
-
-
-
-
LOVD
?/.
1
-
c.807dup
r.(?)
p.(Pro270Thrfs*16)
-
VUS
g.197313565dup
g.197344435dup
807dupA
-
CRB1_000358
-
PubMed: Ellingford 2016
-
-
Germline
-
-
-
-
-
LOVD
+/.
1
3
c.820-8C>T
r.spl?
p.?
-
pathogenic (recessive)
g.197313570C>T
-
c.820-8C>Tdel2123C
-
CRB1_000451
-
PubMed: Anasagasti-2013
-
rs73071678
Germline
yes
0.01
-
-
-
LOVD
+?/.
1
-
c.848+1G>A
r.spl
p.?
-
likely pathogenic
g.197313607G>A
g.197344477G>A
-
-
CRB1_000353
-
PubMed: Bravo-Gil 2017
-
-
Germline
-
-
-
-
-
Nereida Bravo Gil
+?/., ?/.
2
-
c.849-26A>G
r.(=), r.spl?
p.(=), p.?
-
likely pathogenic, VUS
g.197316444A>G
g.197347314A>G
-
-
CRB1_000256
VKGL data sharing initiative Nederland
PubMed: Haer-Wigman 2017
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Nijmegen
+?/.
1
-
c.853A>C
r.(?)
p.(Ser285Arg)
-
likely pathogenic
g.197316474A>C
g.197347344A>C
CRB1 c.853A>C, p.S285R
-
CRB1_000550
single allele in a recessive disease; heterozygous
PubMed: Wiszniewski 2011
-
-
Unknown
?
-
-
-
-
LOVD
+/.
2
-
c.858T>A
r.(?)
p.(Cys286*), p.(Cys286Ter)
ACMG
pathogenic
g.197316479T>A
g.197347349T>A
CRB1 c.858T>A(;)4007T>C, V1: c.858T>A, (p.Cys286Ter),
1 more item
-
CRB1_000526
alleles in cis or trans; heterozygous, heterozygous
PubMed: Chen 2021
,
PubMed: Chen 2021
-
-
Germline/De novo (untested), Unknown
?
Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0
-
-
-
LOVD
+?/., -/., -?/., ?/.
10
4
c.866C>T
r.(?)
p.(Thr289Met)
-
benign, likely benign, likely pathogenic, VUS
g.197316487C>T
g.197347357C>T
866C>T, Thr289Met
-
CRB1_000180
unknown variant 2nd chromosome
PubMed: Holtan 2020
,
PubMed: li 2011
,
PubMed: Lotery 2001
,
PubMed: Simonelli 2007
,
PubMed: Stone 2007
,
1 more item
-
-
Germline, Unknown
-
1/190 cases, 1/87 cases; 0/96 controls, 2/899 cases
CviAII+;FatI+;NlaIII+;BsgI-
-
-
Global Variome, with Curator vacancy
,
Frans Cremers
+?/.
1
4
c.929G>A
r.(?)
p.(Cys310Tyr)
-
likely pathogenic
g.197316550G>A
g.197347420G>A
-
-
CRB1_000219
-
PubMed: Coppieters 2010
-
-
Unknown
-
-
Tsp45I-
-
-
Frans Cremers
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