Global Variome shared LOVD
BBS12 (Bardet-Biedl syndrome 12)
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Unique variants in the BBS12 gene
This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_001178007.1 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
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.
127 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
+/., +?/., ?/.
23
-
c.?
r.(?)
p.(Asn461fs*9), p.(Gly361fs*21), p.(Phe372fs*1), p.(Ser631fs*7), p.(Thr380fs*2), p.?, p.D480MfsX3,
1 more item
-
likely pathogenic, pathogenic, VUS
g.?
-
(c.2023C > T; p.Arg675X), (c.271dupG; p.Cys91fs), G630fsX638/N506K/DelP507, M390R/E384X, [p.L779Q],
13 more items
-
TRAPPC11_000000
normal 2nd chromosome
PubMed: Billingsley-2010
,
PubMed: Castro Sanchez 2015
,
PubMed: Deveault-2011
,
PubMed: Imhoff-2011
,
1 more item
-
-
Germline, Unknown
-
-
-
-
-
LOVD
-/.
1
-
c.-312G>A
r.(?)
p.(=)
-
benign
g.123653926G>A
g.122732771G>A
-
-
BBS12_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
1
-
c.51A>G
r.(?)
p.(Gln17=)
-
benign
g.123663098A>G
g.122741943A>G
BBS12(NM_001178007.1):c.51A>G (p.Q17=)
-
BBS12_000077
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.58T>C
r.(?)
p.(Ser20Pro)
-
likely benign
g.123663105T>C
g.122741950T>C
BBS12(NM_001178007.1):c.58T>C (p.S20P)
-
BBS12_000042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
3
c.65T>C
r.(?)
p.(Phe22Ser)
-
pathogenic (recessive)
g.123663112T>C
-
c.[65T>C];[65T>C]
-
BBS12_000159
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
-
c.67G>A
r.(?)
p.(Ala23Thr)
-
VUS
g.123663114G>A
g.122741959G>A
BBS12(NM_001178007.1):c.67G>A (p.A23T)
-
BBS12_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.75A>G
r.(?)
p.(Thr25=)
-
likely benign
g.123663122A>G
-
BBS12(NM_001178007.1):c.75A>G (p.T25=)
-
BBS12_000043
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-?/.
1
-
c.105A>T
r.(?)
p.(Ser35=)
-
likely benign
g.123663152A>T
g.122741997A>T
BBS12(NM_001178007.1):c.105A>T (p.S35=)
-
BBS12_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/., -/., ?/.
8
2, 3
c.116T>C
c.116T>C, r.(?)
p.(Ile39Thr)
ACMG
benign, likely pathogenic, pathogenic (recessive), VUS
g.123663163T>C
g.122742008T>C
BBS12 c.116T>C, p.Ile39Thr, c.116T>C, NM_152618.2:c.116T>C, p.Ile39Thr,
1 more item
-
BBS12_000044
conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous;
Clinindb (India)
,
2 more items
PubMed: Anasagasti-2013
,
PubMed: Costa 2017
,
PubMed: Duelund Hjortshoj-2010
,
PubMed: Manara 2019
,
2 more items
-
rs138036823
CLASSIFICATION record, Germline
?, yes
0.01, 14/2794 individuals, <0.01
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
,
Mohammed Faruq
+?/.
1
3
c.175del
r.(?)
p.(Ser59ValfsTer4)
ACMG
likely pathogenic
g.123663222del
g.122742067del
c.173(exon3)delA
-
BBS12_000161
-
PubMed: Tang 2022
,
Journal: Tang 2022
-
rs1197816407
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
2
-
c.212A>G
r.(?)
p.(Asn71Ser)
-
likely benign
g.123663259A>G
g.122742104A>G
BBS12(NM_001178007.1):c.212A>G (p.N71S), BBS12(NM_152618.3):c.212A>G (p.N71S)
-
BBS12_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
+?/.
1
3
c.223del
r.(?)
p.(Gln75Lysfs*37)
-
likely pathogenic
g.123663270del
-
c.223delC
-
BBS12_000108
-
PubMed: Sathya Priya-2015
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
5
3
c.263T>G
r.(?)
p.(Leu88Arg)
-
likely pathogenic
g.123663310T>G
-
(c.1115_1116delTT; p.Phe372X), c.263T>G/p.(Leu88Arg), p.(Leu88Arg)
-
BBS12_000129
-
PubMed: Alvarez-Satta-2014
,
PubMed: Castro Sanchez 2015
,
PubMed: Deveault-2011
-
-
Germline, Unknown
-
-
-
-
-
LOVD
+/.
1
-
c.265_266del
r.(?)
p.(Leu89Valfs*11)
ACMG
pathogenic
g.123663312_123663313del
g.122742157_122742158del
c.265_266delTT, p. (Leu89Valfs*11)
-
BBS12_000111
heterozygous
PubMed: Jaffal 2019
-
-
Germline
yes
-
-
-
-
LOVD
+?/.
1
3
c.270del
r.(?)
p.(Val92Leufs*20)
-
likely pathogenic
g.123663317del
-
c.268delT
-
BBS12_000113
-
PubMed: Muller-2010
,
PubMed: Stoetzel 2007
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
-
c.274G>A
r.(?)
p.(Val92Ile)
-
VUS
g.123663321G>A
g.122742166G>A
BBS12(NM_001178007.1):c.274G>A (p.V92I)
-
BBS12_000045
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
3
c.323C>G
r.(?)
p.(Pro108Arg)
-
likely pathogenic
g.123663370C>G
-
c.704C>G
-
BBS12_000109
-
PubMed: Sathya Priya-2015
-
-
Germline
yes
-
-
-
-
LOVD
+/.
2
3
c.323C>T
r.(?)
p.(Pro108Leu)
-
pathogenic
g.123663370C>T
-
p.P108L (c.3232C>T)
-
BBS12_000114
-
PubMed: Pereiro-2010
-
-
Germline
yes
0/100 ethnically matched control chromosomes.
-
-
-
LOVD
+?/.
1
3
c.335_337del
r.(?)
p.(Val113del)
-
likely pathogenic
g.123663382_123663384del
-
c.335delGTA
-
BBS12_000115
-
PubMed: Muller-2010
,
PubMed: Stoetzel 2007
-
-
Germline
-
-
-
-
-
LOVD
+/., +?/., -?/., ?/.
6
3
c.355G>A
r.(?)
p.(Gly119Ser)
-
likely benign, likely pathogenic, pathogenic, VUS
g.123663402G>A
g.122742247G>A
BBS12(NM_152618.3):c.355G>A (p.G119S), c.355G>A, [G119S;Y263H]+[=], [p.Y317C];[p.Y317C]
-
BBS12_000046
normal 2nd chromosome, VKGL data sharing initiative Nederland
PubMed: Billingsley-2010
,
PubMed: Chen-2011
,
PubMed: Costa 2017
,
PubMed: Deveault-2011
-
-
CLASSIFICATION record, Germline, Unknown
-
-
-
-
-
VKGL-NL_Utrecht
-/.
1
-
c.378G>T
r.(?)
p.(Glu126Asp)
-
benign
g.123663425G>T
g.122742270G>T
BBS12(NM_152618.3):c.378G>T (p.E126D)
-
BBS12_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+?/.
1
3
c.420_423del
r.(?)
p.(Cys140Trpfs*15)
-
likely pathogenic
g.123663467_123663470del
-
c.420_423delTATG
-
BBS12_000073
-
PubMed: Duelund Hjortshoj-2010
-
-
Germline
-
-
-
-
-
LOVD
+?/., ?/.
4
3
c.476C>T
r.(?)
p.(Pro159Leu)
-
likely pathogenic, unclassified, VUS
g.123663523C>T
-
c.476C>T, p.P159L, [p.E61K]
-
BBS12_000116
normal 2nd chromosome
PubMed: Chen-2011
,
PubMed: Imhoff-2011
,
PubMed: Muller-2010
,
PubMed: Stoetzel 2007
,
1 more item
-
-
Germline, Unknown
-
-
-
-
-
LOVD
?/.
1
-
c.577C>T
r.(?)
p.(Pro193Ser)
-
VUS
g.123663624C>T
-
BBS12(NM_001178007.1):c.577C>T (p.P193S)
-
BBS12_000103
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
-
c.617T>G
r.(?)
p.(Val206Gly)
-
VUS
g.123663664T>G
g.122742509T>G
-
-
BBS12_000097
-
PubMed: Bryant 2018
-
-
Germline
-
-
-
-
-
LOVD
+/.
2
3
c.670dup
r.(?)
p.(Thr224Asnfs*12), p.(Thr224AsnfsTer12)
-
pathogenic, pathogenic (recessive)
g.123663717dup
g.122742562dup
c.[670dup];[1574G>A]
-
BBS12_000081
VKGL data sharing initiative Nederland
PubMed: Mary-2019
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
3
c.695_731del
r.(?)
p.(Ile232Lysfs*3)
-
pathogenic
g.123663742_123663778del
-
c.695_731del37
-
BBS12_000156
-
PubMed: Strong-2020
-
-
Unknown
-
-
-
-
-
LOVD
-/., -?/.
2
-
c.714T>G
r.(?)
p.(Asn238Lys)
-
benign, likely benign
g.123663761T>G
g.122742606T>G
BBS12(NM_001178007.1):c.714T>G (p.N238K), BBS12(NM_152618.3):c.714T>G (p.N238K)
-
BBS12_000082
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
+?/.
1
3
c.769dup
r.(?)
p.(Thr257Asnfs*10)
-
likely pathogenic
g.123663816dup
-
c.769insA
-
BBS12_000117
-
PubMed: Muller-2010
,
PubMed: Stoetzel 2007
-
-
Germline
-
-
-
-
-
LOVD
+?/., -?/.
2
3
c.787T>C
r.(?)
p.(Tyr263His)
-
likely benign, likely pathogenic
g.123663834T>C
-
[G119S;Y263H]+[=], [p.Y24X];[p.Y24X]
-
BBS12_000130
normal 2nd chromosome
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
-
-
Germline, Unknown
-
-
-
-
-
LOVD
+/.
1
-
c.789C>A
r.(?)
p.(Tyr263Ter)
-
pathogenic
g.123663836C>A
g.122742681C>A
BBS12(NM_152618.3):c.789C>A (p.Y263*)
-
BBS12_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+?/.
1
3
c.865G>C
r.(?)
p.(Ala289Pro)
-
likely pathogenic
g.123663912G>C
-
c.865G>C
-
BBS12_000118
-
PubMed: Muller-2010
,
PubMed: Stoetzel 2007
-
-
Germline
-
-
-
-
-
LOVD
-/.
1
3
c.874C>T
r.(=)
p.(=)
-
benign
g.123663921C>T
-
c.874C>T
-
BBS12_000119
-
PubMed: Duelund Hjortshoj-2010
-
-
Germline
-
0.01
-
-
-
LOVD
+?/.
1
3
c.877C>G
r.(?)
p.(Gln293Glu)
-
likely pathogenic
g.123663924C>G
-
M390R/E384X
-
BBS12_000131
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
LOVD
+?/.
1
-
c.880T>G
r.(?)
p.(Tyr294Asp)
ACMG
likely pathogenic
g.123663927T>G
g.122742772T>G
c.880T > G, p. (Tyr294Asp)
-
BBS12_000112
heterozygous
PubMed: Jaffal 2019
-
-
Germline
yes
-
-
-
-
LOVD
-?/.
1
-
c.893G>T
r.(?)
p.(Cys298Phe)
-
likely benign
g.123663940G>T
g.122742785G>T
BBS12(NM_001178007.1):c.893G>T (p.C298F)
-
BBS12_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/., +?/.
2
-
c.898C>T
r.(?)
p.(Gln300*), p.(Gln300Ter)
ACMG
likely pathogenic, pathogenic
g.123663945C>T
g.122742790C>T
BBS12 c.898C>T, p.Q300X, BBS12, variant 1: c.898C>T/p.Q300*, variant 2: c.1063C>T/p.R355*
-
BBS12_000154
homozygous; solved, possibly solved, compound heterozygous
PubMed: Weisschuh 2020
,
PubMed: Zacchia 2021
-
-
Unknown
?
-
-
-
-
LOVD
+?/.
2
3
c.959T>A
r.(?)
p.(Leu320Gln)
-
likely pathogenic
g.123664006T>A
-
c.959T>A p.(L320Q)
-
BBS12_000132
-
PubMed: Abu-Safieh-2012
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
LOVD
+/.
1
3
c.998G>A
r.(?)
p.(Gly333Glu)
-
pathogenic
g.123664045G>A
-
c.998G>A(H)
-
BBS12_000146
-
PubMed: Janssen-2011
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
-
c.1003A>G
r.(?)
p.(Ile335Val)
-
VUS
g.123664050A>G
g.122742895A>G
BBS12(NM_001178007.1):c.1003A>G (p.I335V)
-
BBS12_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.1011T>C
r.(?)
p.(Val337=)
-
likely benign
g.123664058T>C
-
BBS12(NM_001178007.1):c.1011T>C (p.V337=)
-
BBS12_000104
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/., ?/.
3
3
c.1037T>C
r.(?)
p.(Ile346Thr)
-
likely pathogenic, VUS
g.123664084T>C
-
c.1037T>C, p.I346T, [p.L125R]
-
BBS12_000120
normal 2nd chromosome
PubMed: Imhoff-2011
,
PubMed: Muller-2010
,
PubMed: Stoetzel 2007
,
PubMed: Scheidecker 2015
-
-
Germline, Unknown
-
-
-
-
-
LOVD
+/., +?/.
4
3
c.1055A>C
r.(?)
p.(Gln352Pro)
-
likely pathogenic, pathogenic (recessive)
g.123664102A>C
g.122742947A>C
c.[1055A>C];[1055A>C], NM_152618.2:1055A>C (Gln352Pro)
-
BBS12_000098
-
PubMed: Haer-Wigman 2017
,
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
LOVD
-/.
3
-
c.1062G>C
r.(?)
p.(Val354=)
-
benign
g.123664109G>C
g.122742954G>C
BBS12(NM_001178007.1):c.1062G>C (p.V354=)
-
BBS12_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
+/., +?/.
8
2, 3
c.1063C>T
c.1063C>T, r.(?)
p.(Arg355*)
ACMG
likely pathogenic, pathogenic, pathogenic (recessive)
g.123664110C>T
g.122742955C>T
BBS12 c.1063C>T, p.(Arg355*), BBS12;NM_001178007.1, c.1063C>T, c.[1063C>T];[1063C>T],
2 more items
-
BBS12_000099
homozygous, homozygous; sister is also homozygous, possibly solved, compound heterozygous
PubMed: Ellingford 2016
,
PubMed: Jiman 2020
,
PubMed: Manara 2019
,
PubMed: Mary-2019
,
3 more items
-
rs121918327
Germline, Unknown
?, yes
-
-
-
-
LOVD
+/., +?/.
6
3
c.1064G>A
r.(?)
p.(Arg355Gln)
-
likely pathogenic, pathogenic
g.123664111G>A
-
M390R/E384X, [p.M390R];[p.N524del], [R355Q]+[=], [R355Q]+[R355Q]
-
BBS12_000133
normal 2nd chromosome
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
-
-
Germline, Unknown
-
-
-
-
-
LOVD
?/.
1
-
c.1067T>G
r.(?)
p.(Ile356Arg)
-
VUS
g.123664114T>G
g.122742959T>G
-
-
BBS12_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/.
1
3
c.1082del
r.(?)
p.(Gly361Valfs*22)
-
likely pathogenic
g.123664129del
-
c.1082delG/p.(Gly361Valfs*21)b
-
BBS12_000147
-
PubMed: Alvarez-Satta-2014
-
-
Germline
-
0/100 chromosomes
-
-
-
LOVD
+/.
1
3
c.1092del
r.(?)
p.(Glu365Argfs*18)
-
pathogenic
g.123664139del
g.122742984del
E365fsX382
-
BBS12_000016
-
{PMID:Waters 2015:25564561),
Journal: Waters 2015
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
?/.
1
-
c.1102C>T
r.(?)
p.(Arg368Cys)
ACMG
VUS
g.123664149C>T
g.122742994C>T
BBS12 C1102T, p.R368C
-
BBS12_000157
heterozygous; unsolved
PubMed: Zacchia 2021
-
-
Unknown
?
-
-
-
-
LOVD
-/.
2
-
c.1103G>A
r.(?)
p.(Arg368His)
-
benign
g.123664150G>A
g.122742995G>A
BBS12(NM_001178007.1):c.1103G>A (p.R368H), BBS12(NM_152618.3):c.1103G>A (p.R368H)
-
BBS12_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
+/.
2
3
c.1114_1115delTT
r.(?)
p.(Phe372*)
-
pathogenic
g.123664161_123664162delTT
-
p.F372fsX373 (c.1114delTT)
-
BBS12_000121
-
PubMed: Pereiro-2010
-
-
Germline
yes
0/100 ethnically matched control chromosomes.
-
-
-
LOVD
+/., +?/., ?/.
13
2, 3
c.1115_1116del
r.(?)
p.(Phe372*), p.(Phe372Ter)
-
likely pathogenic, pathogenic, pathogenic (recessive), VUS
g.123664162_123664163del
g.122743007_122743008del
BBS12, variant 1: c.1115_1116del/p.F372*, variant 2: c.1237C>G/p.L413V, c.1114delTT, c.1114_1115del,
6 more items
-
BBS12_000008
no variant 2nd chromosome, possibly solved, compound heterozygous,
1 more item
PubMed: Alvarez-Satta-2014
,
PubMed: Bravo-Gil 2017
,
PubMed: Hariri 2018
,
PubMed: Mary-2019
,
3 more items
-
-
CLASSIFICATION record, Germline, Unknown
?, yes
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
,
Nereida Bravo Gil
+?/.
2
3
c.1115_1116delTT
r.(?)
p.(Phe372*)
-
likely pathogenic
g.123664162_123664163delTT
-
P159L/I346T, R49W/L414S
-
BBS12_000134
-
PubMed: Dulfer-2010
-
-
Unknown
-
-
-
-
-
LOVD
+?/.
1
3
c.1140del
r.(?)
p.(Val381Tyrfs*2)
-
likely pathogenic
g.123664187del
-
c.1140delA/p.(Thr380Thrfs*2)b
-
BBS12_000148
-
PubMed: Alvarez-Satta-2014
-
-
Germline
-
0/100 chromosomes
-
-
-
LOVD
+/.
2
3
c.1156_1157delinsTA
r.(?)
p.(Arg386*)
-
pathogenic
g.123664203_123664204delinsTA
-
c.1156_1157CG>TA
-
BBS12_000151
-
PubMed: Fattahi 2014
-
-
Germline
-
-
-
-
-
LOVD
-/.
3
-
c.1157G>A
r.(?)
p.(Arg386Gln)
-
benign
g.123664204G>A
g.122743049G>A
BBS12(NM_001178007.1):c.1157G>A (p.R386Q)
-
BBS12_000053
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
?/.
1
-
c.1190C>T
r.(?)
p.(Ala397Val)
-
VUS
g.123664237C>T
g.122743082C>T
-
-
BBS12_000094
heterozygous variant only, does not fit phenotype
PubMed: Arno 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
3
c.1191A>G
r.(=)
p.(=)
-
VUS
g.123664238A>G
-
BBS12: c.1191A>G
-
BBS12_000122
-
PubMed: Duelund Hjortshoj-2010
-
-
Germline
-
0/100 ethnically matched control chromosomes
-
-
-
LOVD
+/., +?/.
2
3
c.1198G>A
r.(?)
p.(Val400Met)
-
likely pathogenic, pathogenic
g.123664245G>A
-
[p.K243IfsX15];[p.K243IfsX15], [V400M;R674C]+[V400M;R674C]
-
BBS12_000135
-
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
-
-
Germline, Unknown
-
-
-
-
-
LOVD
-/.
2
-
c.1200G>A
r.(?)
p.(Val400=)
-
benign
g.123664247G>A
g.122743092G>A
BBS12(NM_001178007.1):c.1200G>A (p.V400=)
-
BBS12_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
-?/.
1
-
c.1207G>A
r.(?)
p.(Val403Met)
-
likely benign
g.123664254G>A
g.122743099G>A
BBS12(NM_001178007.1):c.1207G>A (p.V403M)
-
BBS12_000083
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/., -?/.
4
-
c.1209G>A
r.(=), r.(?)
p.(=), p.(Val403=)
-
benign, likely benign
g.123664256G>A
g.122743101G>A
BBS12(NM_001178007.1):c.1209G>A (p.V403=)
-
BBS12_000055
3 heterozygous, no homozygous;
Clinindb (India)
, VKGL data sharing initiative Nederland
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs17006092
CLASSIFICATION record, Germline
-
3/2795 individuals
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
VKGL-NL_VUmc
,
Mohammed Faruq
+?/.
1
-
c.1223A>G
r.(?)
p.(Lys408Arg)
ACMG
likely pathogenic
g.123664270A>G
g.122743115A>G
BBS12 c.1223A>G, p.(Lys408Arg)
-
BBS12_000102
single heterozygous variant (recessive)
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
LOVD
+?/.
1
-
c.1237C>G
r.(?)
p.(Leu413Val)
-
likely pathogenic
g.123664284C>G
g.122743129C>G
BBS12, variant 1: c.1115_1116del/p.F372*, variant 2: c.1237C>G/p.L413V
-
BBS12_000084
possibly solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
LOVD
+?/.
2
3
c.1276T>C
r.(?)
p.(Cys426Arg)
ACMG
likely pathogenic (recessive)
g.123664323T>C
g.122743168T>C
c.1276T>C, c.1276T>C, p.C426R
-
BBS12_000153
Homozygous
PubMed: Liu-2020
,
PubMed: Tao 2020
-
-
Germline
yes
-
-
-
-
LOVD
-/.
3
-
c.1286G>C
r.(?)
p.(Ser429Thr)
-
benign
g.123664333G>C
g.122743178G>C
BBS12(NM_001178007.1):c.1286G>C (p.S429T), BBS12(NM_152618.3):c.1286G>C (p.S429T)
-
BBS12_000085
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_VUmc
-?/.
1
-
c.1287T>C
r.(?)
p.(Ser429=)
-
likely benign
g.123664334T>C
-
BBS12(NM_001178007.1):c.1287T>C (p.S429=)
-
BBS12_000056
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/.
1
-
c.1302C>T
r.(?)
p.(Ile434=)
-
benign
g.123664349C>T
g.122743194C>T
BBS12(NM_001178007.1):c.1302C>T (p.I434=)
-
BBS12_000057
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
-/., -?/.
4
3
c.1380G>C
r.(=), r.(?)
p.(=), p.(Val460=)
-
benign, likely benign
g.123664427G>C
g.122743272G>C
BBS12(NM_001178007.1):c.1380G>C (p.V460=)
-
BBS12_000040
VKGL data sharing initiative Nederland
PubMed: Almomani 2011
-
rs13135766
CLASSIFICATION record, Germline
-
-
-
-
-
Gerard C.P. Schaafsma
,
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
+?/., -/.
3
3
c.1381A>C
r.(?)
p.(Asn461His)
-
benign, likely pathogenic
g.123664428A>C
g.122743273A>C
BBS12(NM_001178007.1):c.1381A>C (p.N461H), BBS12(NM_152618.3):c.1381A>C (p.N461H), c.1381A>C
-
BBS12_000058
VKGL data sharing initiative Nederland
PubMed: Song-2011
-
rs10027479
CLASSIFICATION record, Unknown
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
+?/.
1
3
c.1383_1386del
r.(?)
p.(Asn461Lysfs*10)
-
likely pathogenic
g.123664430_123664433del
-
c.1383_1386delTGAA/p.(Asn461Lysfs*9)
-
BBS12_000149
-
PubMed: Alvarez-Satta-2014
-
-
Germline
-
-
-
-
-
LOVD
+?/.
2
3
c.1394T>C
r.(?)
p.(Val465Ala)
-
likely pathogenic
g.123664441T>C
g.122743286T>C
c.1115_1116delTT, p.Val465Ala:c.1394T/C (alleles in trans), c.1394T>C
-
BBS12_000123
-
PubMed: Feuillan-2011
,
PubMed: Hariri 2018
-
-
Germline
?
-
-
-
-
LOVD
-/.
2
-
c.1398C>T
r.(?)
p.(Gly466=)
-
benign
g.123664445C>T
g.122743290C>T
BBS12(NM_001178007.1):c.1398C>T (p.G466=)
-
BBS12_000059
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
-/.
3
-
c.1399G>A
r.(?)
p.(Asp467Asn)
-
benign
g.123664446G>A
g.122743291G>A
BBS12(NM_001178007.1):c.1399G>A (p.D467N)
-
BBS12_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
?/.
1
-
c.1402G>A
r.(?)
p.(Gly468Arg)
-
VUS
g.123664449G>A
g.122743294G>A
BBS12(NM_001178007.1):c.1402G>A (p.G468R)
-
BBS12_000060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
3
-
c.1410C>T
r.(?)
p.(Cys470=)
-
benign
g.123664457C>T
g.122743302C>T
BBS12(NM_001178007.1):c.1410C>T (p.C470=)
-
BBS12_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Groningen
,
VKGL-NL_Nijmegen
+?/.
2
3
c.1438del
r.(?)
p.(Asp480Metfs*3)
-
likely pathogenic
g.123664485del
-
c.1438delG
-
BBS12_000136
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
LOVD
-/.
3
-
c.1451G>A
r.(?)
p.(Arg484Lys)
-
benign
g.123664498G>A
g.122743343G>A
BBS12(NM_001178007.1):c.1451G>A (p.R484K), BBS12(NM_152618.3):c.1451G>A (p.R484K)
-
BBS12_000062
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_AMC
+/., +?/.
2
3
c.1483_1484del
r.(?)
p.(Glu495Argfs*3)
-
likely pathogenic, pathogenic
g.123664530_123664531del
-
1483_1484delGA (E495fsX498), c.1483delGA
-
BBS12_000100
-
PubMed: Harville-2010
,
PubMed: Muller-2010
,
PubMed: Stoetzel 2007
-
-
Germline
-
0/90 ethnically matched controls
-
-
-
LOVD
?/.
1
-
c.1499T>C
r.(?)
p.(Val500Ala)
-
VUS
g.123664546T>C
-
BBS12(NM_001178007.1):c.1499T>C (p.V500A)
-
BBS12_000105
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
5
3
c.1502C>T
r.(?)
p.(Thr501Met)
-
likely pathogenic, pathogenic, pathogenic (recessive)
g.123664549C>T
-
c.1502C>T, c.[1115_1116del];[1502C>T], [p.R355Q];[p.R355Q], [T501M]+[R525H]
-
BBS12_000124
-
PubMed: Billingsley-2010
,
PubMed: Deveault-2011
,
PubMed: Mary-2019
,
1 more item
-
-
Germline, Unknown
-
-
-
-
-
LOVD
+?/.
1
3
c.1503G>A
r.(=)
p.(=)
-
likely pathogenic
g.123664550G>A
-
[p.M390R];[p.M390R]
-
BBS12_000138
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
LOVD
-?/.
1
3
c.1503G>H
r.(=)
p.(=)
-
likely benign
g.123664550G>C
-
[T501T]+[=]
-
BBS12_000137
normal 2nd chromosome
PubMed: Billingsley-2010
-
-
Germline
-
-
-
-
-
LOVD
+?/.
1
-
c.1504G>T
r.(?)
p.(Ala502Ser)
-
likely pathogenic
g.123664551G>T
g.122743396G>T
BBS12, variant 1: c.2023C>T/p.R675*, variant 2: c.1504G>T/p.A502S
-
BBS12_000155
possibly solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
LOVD
+?/.
1
3
c.1507G>A
r.(?)
p.(Val503Met)
-
likely pathogenic
g.123664554G>A
-
c.1507G>A(h)
-
BBS12_000150
unknown variant 2nd chromosome
PubMed: Janssen-2011
-
-
Germline
-
1.4% ; absent in 96 controls
-
-
-
LOVD
?/.
1
-
c.1507G>T
r.(?)
p.(Val503Leu)
-
VUS
g.123664554G>T
g.122743399G>T
BBS12(NM_001178007.1):c.1507G>T (p.V503L)
-
BBS12_000063
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/.
1
-
c.1531C>T
r.(?)
p.(Gln511Ter)
-
pathogenic
g.123664578C>T
g.122743423C>T
-
-
BBS12_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/., +?/.
4
2, 3
c.1531_1539del
c.1531_1539del, r.(?)
p.(Gln511_Gln513del)
ACMG
likely pathogenic, pathogenic
g.123664578_123664586del
g.122743423_122743431del
BBS12 c.1531_1539del, p.(Gln511_Gln513del), c.1531_1539delCAGATGCAA,
1 more item
-
BBS12_000086
homozygous, single heterozygous variant (recessive), VKGL data sharing initiative Nederland
PubMed: Duelund Hjortshoj-2010
,
PubMed: Jespersgaar 2019
,
PubMed: Manara 2019
-
rs752762669
CLASSIFICATION record, Germline
?, yes
-
-
-
-
VKGL-NL_VUmc
+?/.
1
3
c.1535G>A
r.(?)
p.?
-
likely pathogenic
g.123664582G>A
-
[p.R355Q];[p.R355Q]
-
BBS12_000139
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
LOVD
-?/.
1
-
c.1554G>A
r.(?)
p.(Arg518=)
-
likely benign
g.123664601G>A
g.122743446G>A
BBS12(NM_001178007.1):c.1554G>A (p.R518=)
-
BBS12_000087
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+?/.
1
3
c.1560G>A
r.(?)
p.(Trp520*)
-
unclassified
g.123664607G>A
-
1560G>A
-
BBS12_000140
-
PubMed: Chen-2011
-
-
Germline
-
-
-
-
-
LOVD
?/.
1
-
c.1571A>G
r.(?)
p.(Tyr524Cys)
-
VUS
g.123664618A>G
-
BBS12(NM_001178007.1):c.1571A>G (p.Y524C)
-
BBS12_000106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
1
3
c.1572A>G
r.(?)
p.?
-
VUS
g.123664619A>G
-
BBS12: c.1572A>G
-
BBS12_000125
A not found at position 1953, found T instead.
PubMed: Duelund Hjortshoj-2010
-
-
Germline
-
0/100 ethnically matched control chromosomes
-
-
-
LOVD
+/.
2
3
c.1574G>A
r.(?)
p.(Arg525His)
-
pathogenic, pathogenic (recessive)
g.123664621G>A
-
c.[670dup];[1574G>A], [T501M]+[R525H]
-
BBS12_000141
-
PubMed: Billingsley-2010
,
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
LOVD
+/.
2
3
c.1589T>C
r.(?)
p.(Leu530Pro)
-
pathogenic
g.123664636T>C
-
1589T/C (L530P)
-
BBS12_000101
-
PubMed: Harville-2010
-
-
Germline
-
0/90 ethnically matched controls
-
-
-
LOVD
?/.
1
3
c.1604T>G
r.(?)
p.(Val535Gly)
ACMG
VUS
g.123664651T>G
g.122743496T>G
c.1604(exon3)T>G
-
BBS12_000162
-
PubMed: Tang 2022
,
Journal: Tang 2022
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
1
-
c.1611T>C
r.(?)
p.(Leu537=)
-
likely benign
g.123664658T>C
g.122743503T>C
BBS12(NM_001178007.1):c.1611T>C (p.L537=)
-
BBS12_000088
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
6
3
c.1616G>A
r.(?)
p.(Gly539Asp)
-
likely pathogenic, pathogenic (recessive)
g.123664663G>A
-
(c.2023C > T; p.Arg675X), c.1616G>A/p.(Gly539Asp), p.(Gly539Asp), p.Gly539Asp
-
BBS12_000110
-
PubMed: Alvarez-Satta-2014
,
PubMed: Anasagasti-2013
,
PubMed: Castro Sanchez 2015
,
1 more item
-
-
Germline, Unknown
yes
-
-
-
-
LOVD
+/.
1
3
c.1616G>T
r.(?)
p.(Gly539Val)
-
pathogenic
g.123664663G>T
g.122743508G>T
-
-
BBS12_000041
-
PubMed: Li 2017
-
-
Germline
yes
-
-
-
-
James Hejtmancik
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