Global Variome shared LOVD
FBN1 (fibrillin 1)
LOVD v.3.0 Build 27 [
Current LOVD status
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Curator:
Kristina Lagerstedt Robinson
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All variants in the FBN1 gene
The variants shown are described using the NM_000138.4 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
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
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!
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'
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1573 entries on 16 pages. Showing entries 1 - 100.
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Effect
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
-?/.
-
c.-181-280C>G
r.(=)
p.(=)
-
likely benign
g.48937427G>C
-
FBN1(NM_000138.4):c.-181-280C>G
-
FBN1_001067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+?/.
_1_15i
c.-395_(1837+1_1838-1){0}
r.0?
p.0?
-
likely pathogenic (dominant)
g.(48797345_48800778)_(48937985_?)del
g.(48505148_48508581)_(48645788_?)del
(?_1317)_(1837+1_1838-1)del
-
FBN1_001047
-
-
-
-
Germline
yes
-
-
0
-
Katta M Girisha
+/.
_1_66_
c.-395_*2684{0}
r.0
p.0
ACMG
pathogenic
g.(?_48700504)_(48937986_?)del
g.(?_48408307)_(48645789_?)del
c.1_8616del
-
FBN1_001108
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+?/.
-
c.32T>G
r.(?)
p.(Leu11Arg)
-
likely pathogenic
g.48936935A>C
g.48644738A>C
FBN1(NM_000138.4):c.32T>G (p.L11R)
-
FBN1_000203
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_VUmc
+/.
-
c.32T>G
r.(?)
p.(Leu11Arg)
-
pathogenic
g.48936935A>C
g.48644738A>C
-
-
FBN1_000203
-
PubMed: Overwater 2018
-
-
Germline
-
-
-
0
-
Johan den Dunnen
?/.
-
c.34G>A
r.(?)
p.(Gly12Arg)
-
VUS
g.48936933C>T
g.48644736C>T
FBN1(NM_000138.4):c.34G>A (p.G12R)
-
FBN1_000968
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
?/.
-
c.50T>C
r.(?)
p.Leu17Ser
ACMG
VUS
g.48936917A>G
g.48644720A>G
-
-
FBN1_000219
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
-
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
2
c.50T>C
r.(?)
p.Leu17Ser
ACMG
VUS
g.48936917A>G
g.48644720A>G
-
-
FBN1_000219
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
2
c.56C>T
r.(?)
p.Ser19Phe
ACMG
VUS
g.48936911G>A
g.48644714G>A
-
-
FBN1_000854
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
-
c.59A>G
r.(?)
p.(Tyr20Cys)
-
VUS
g.48936908T>C
g.48644711T>C
FBN1(NM_000138.4):c.59A>G (p.Y20C)
-
FBN1_000202
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Groningen
?/.
-
c.59A>G
r.(?)
p.(Tyr20Cys)
-
VUS
g.48936908T>C
g.48644711T>C
FBN1(NM_000138.4):c.59A>G (p.Y20C)
-
FBN1_000202
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Rotterdam
?/.
2
c.59A>G
r.(?)
p.Tyr20Cys
ACMG
VUS
g.48936908T>C
g.48644711T>C
-
-
FBN1_000202
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
-?/.
-
c.79G>A
r.(?)
p.(Ala27Thr)
-
likely benign
g.48936888C>T
g.48644691C>T
FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr))
-
FBN1_000201
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_VUmc
-?/.
-
c.79G>A
r.(?)
p.(Ala27Thr)
-
likely benign
g.48936888C>T
g.48644691C>T
FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr))
-
FBN1_000201
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Rotterdam
-?/.
2
c.79G>A
r.(?)
p.Ala27Thr
ACMG
likely benign
g.48936888C>T
g.48644691C>T
-
-
FBN1_000201
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
-?/.
-
c.79G>A
r.(?)
p.(Ala27Thr)
-
likely benign
g.48936888C>T
g.48644691C>T
FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr))
-
FBN1_000201
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
2
c.83A>G
r.(?)
p.Asn28Ser
ACMG
VUS
g.48936884T>C
g.48644687T>C
-
-
FBN1_000853
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
-
c.106G>A
r.(?)
p.(Glu36Lys)
-
VUS
g.48936861C>T
g.48644664C>T
-
-
FBN1_000858
-
-
-
-
Unknown
-
-
-
0
-
IMGAG
-?/.
2
c.124G>C
r.(?)
p.Ala42Pro
ACMG
likely benign
g.48936843C>G
g.48644646C>G
-
-
FBN1_000852
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
-
c.133A>G
r.(?)
p.(Arg45Gly)
-
VUS
g.48936834T>C
-
FBN1(NM_000138.4):c.133A>G (p.R45G)
-
FBN1_001061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
2
c.137G>A
r.(?)
p.Gly46Asp
ACMG
VUS
g.48936830C>T
g.48644633C>T
-
-
FBN1_000851
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
2
c.139G>A
r.(?)
p.Gly47Ser
ACMG
VUS
g.48936828C>T
g.48644631C>T
-
-
FBN1_000850
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
2
c.149A>T
r.(?)
p.His50Leu
ACMG
VUS
g.48936818T>A
g.48644621T>A
-
-
FBN1_000849
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
-?/.
-
c.150C>T
r.(?)
p.(His50=)
-
likely benign
g.48936817G>A
g.48644620G>A
FBN1(NM_000138.4):c.150C>T (p.H50=)
-
FBN1_000200
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_VUmc
?/.
2
c.153C>A
r.(?)
p.Asp51Glu
ACMG
VUS
g.48936814G>T
g.48644617G>T
-
-
FBN1_000848
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
-/.
-
c.156G>T
r.(?)
p.(Ala52=)
-
benign
g.48936811C>A
g.48644614C>A
FBN1(NM_000138.4):c.156G>T (p.A52=)
-
FBN1_000199
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_VUmc
+/.
-
c.164+1G>A
r.spl?
p.?
-
pathogenic
g.48936802C>T
g.48644605C>T
-
-
FBN1_001005
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs794728213
Germline
-
1/2795 individuals
-
0
-
Mohammed Faruq
-?/.
-
c.164+10C>G
r.(=)
p.(=)
-
likely benign
g.48936793G>C
g.48644596G>C
FBN1(NM_000138.4):c.164+10C>G
-
FBN1_000990
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
-
c.164+130G>A
r.(=)
p.(=)
-
likely benign
g.48936673C>T
-
FBN1(NM_000138.4):c.164+130G>A
-
FBN1_001092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/.
-
c.172G>A
r.(?)
p.(Val58Ile)
-
VUS
g.48905282C>T
-
FBN1(NM_000138.4):c.172G>A (p.V58I)
-
FBN1_001187
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
2
c.175T>C
r.(?)
p.(Cys59Arg)
-
pathogenic (dominant)
g.48905279A>G
g.48613082A>G
-
-
FBN1_000991
-
PubMed: Wei 2011
-
-
Germline
-
-
-
0
-
Johan den Dunnen
+?/.
3
c.184C>T
r.(?)
p.Arg62Cys
ACMG
likely pathogenic
g.48905270G>A
g.48613073G>A
-
-
FBN1_000847
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
ACMG
pathogenic (dominant)
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
Zexu Chen
+?/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
-?/.
3
c.185G>A
r.(?)
p.Arg62His
ACMG
likely benign
g.48905269C>T
g.48613072C>T
-
-
FBN1_000846
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
3
c.188A>G
r.(?)
p.Tyr63Cys
ACMG
likely pathogenic
g.48905266T>C
g.48613069T>C
-
-
FBN1_000845
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
-
c.199T>C
r.(?)
p.(Cys67Arg)
ACMG
likely pathogenic
g.48905255A>G
-
-
-
FBN1_001166
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+?/.
3
c.202T>A
r.(?)
p.Cys68Ser
ACMG
likely pathogenic
g.48905252A>T
g.48613055A>T
-
-
FBN1_000844
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
3
c.212G>C
r.(?)
p.Trp71Ser
ACMG
likely pathogenic
g.48905242C>G
g.48613045C>G
-
-
FBN1_000843
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
3
c.223C>T
r.(?)
p.Pro75Ser
ACMG
VUS
g.48905231G>A
g.48613034G>A
-
-
FBN1_000842
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
-?/.
3
c.229G>A
r.(?)
p.Gly77Arg
ACMG
likely benign
g.48905225C>T
g.48613028C>T
-
-
FBN1_000841
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
3
c.239G>A
r.(?)
p.Cys80Tyr
ACMG
likely pathogenic
g.48905215C>T
g.48613018C>T
-
-
FBN1_000840
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+/.
-
c.247+1G>A
r.spl?
p.?
-
pathogenic
g.48905206C>T
-
FBN1(NM_000138.4):c.247+1G>A
-
FBN1_001060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/.
-
c.248-17C>G
r.(=)
p.(=)
-
likely benign
g.48903040G>C
g.48610843G>C
FBN1(NM_000138.4):c.248-17C>G
-
FBN1_000198
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Rotterdam
?/.
4
c.260A>G
r.(?)
p.His87Arg
ACMG
VUS
g.48903011T>C
g.48610814T>C
-
-
FBN1_000839
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
4
c.266G>A
r.(?)
p.Cys89Tyr
ACMG
likely pathogenic
g.48903005C>T
g.48610808C>T
-
-
FBN1_000837
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
4
c.266G>C
r.(?)
p.Cys89Ser
ACMG
likely pathogenic
g.48903005C>G
g.48610808C>G
-
-
FBN1_000838
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
-?/.
-
c.273T>C
r.(?)
p.(Asp91=)
-
likely benign
g.48902998A>G
g.48610801A>G
FBN1(NM_000138.4):c.273T>C (p.D91=)
-
FBN1_000197
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Utrecht
+?/.
4
c.281G>T
r.(?)
p.Cys94Phe
ACMG
likely pathogenic
g.48902990C>A
g.48610793C>A
-
-
FBN1_000836
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
-
c.284C>T
r.(?)
p.(Ser95Leu)
-
VUS
g.48902987G>A
g.48610790G>A
FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu))
-
FBN1_000196
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Leiden
?/.
-
c.284C>T
r.(?)
p.(Ser95Leu)
-
VUS
g.48902987G>A
g.48610790G>A
FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu))
-
FBN1_000196
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Nijmegen
?/.
4
c.287G>C
r.(?)
p.Arg96Thr
ACMG
VUS
g.48902984C>G
g.48610787C>G
-
-
FBN1_000835
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
4
c.299G>A
r.(?)
p.Cys100Tyr
ACMG
likely pathogenic
g.48902972C>T
g.48610775C>T
-
-
FBN1_000833
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
4
c.299G>T
r.(?)
p.Cys100Phe
ACMG
likely pathogenic
g.48902972C>A
g.48610775C>A
-
-
FBN1_000834
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
4
c.305G>T
r.(?)
p.Cys102Phe
ACMG
likely pathogenic
g.48902966C>A
g.48610769C>A
-
-
FBN1_000832
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
-
c.305G>T
r.(?)
p.(Cys102Phe)
ACMG
pathogenic
g.48902966C>A
-
-
-
FBN1_000832
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+?/.
-
c.306C>G
r.(?)
p.(Cys102Trp)
ACMG
pathogenic (dominant)
g.48902965G>C
-
-
-
FBN1_001165
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
Zexu Chen
-/.
-
c.306C>T
r.(=)
p.(=)
-
benign
g.48902965G>A
g.48610768G>A
-
-
FBN1_000033
found in a patient in combination with pathogenic mutation p.Cys805Trp
-
-
rs25388
Germline
-
-
-
0
-
Andreas Laner
-/.
-
c.306C>T
r.(?)
p.(Cys102=)
-
benign
g.48902965G>A
g.48610768G>A
FBN1(NM_000138.4):c.306C>T (p.C102=, p.(Cys102=))
-
FBN1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_VUmc
-?/.
-
c.306C>T
r.(?)
p.(Cys102=)
-
likely benign
g.48902965G>A
g.48610768G>A
FBN1(NM_000138.4):c.306C>T (p.C102=, p.(Cys102=))
-
FBN1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_Rotterdam
-?/.
-
c.306C>T
r.(?)
p.(Cys102=)
-
likely benign
g.48902965G>A
-
FBN1(NM_000138.4):c.306C>T (p.C102=, p.(Cys102=))
-
FBN1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
-
c.319del
r.(?)
p.(Ile107*)
-
pathogenic
g.48902952del
-
FBN1(NM_000138.4):c.319delA (p.I107*)
-
FBN1_001222
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
?/.
-
c.328T>C
r.(?)
p.(Ser110Pro)
-
VUS
g.48902943A>G
g.48610746A>G
FBN1(NM_000138.4):c.328T>C (p.S110P)
-
FBN1_000967
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+?/.
4
c.338C>G
r.(?)
p.Ser113Cys
ACMG
likely pathogenic
g.48902933G>C
g.48610736G>C
-
-
FBN1_000831
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
-
c.338C>G
r.(?)
p.(Ser113Cys)
ACMG
likely pathogenic
g.48902933G>C
-
-
-
FBN1_000831
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
-
-
-
0
-
Zexu Chen
-?/.
-
c.346+262G>A
r.(=)
p.(=)
-
likely benign
g.48902663C>T
g.48610466C>T
FBN1(NM_000138.4):c.346+262G>A
-
FBN1_001014
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-?/.
-
c.347-13_347-11del
r.(=)
p.(=)
-
likely benign
g.48892450_48892452del
-
FBN1(NM_000138.4):c.347-13_347-11delCTT
-
FBN1_001186
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
?/.
5
c.353A>G
r.(?)
p.His118Arg
ACMG
VUS
g.48892425T>C
g.48600228T>C
-
-
FBN1_000830
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
-
c.356G>A
r.(?)
p.(Cys119Tyr)
ACMG
VUS
g.48892422C>T
g.48600225C>T
FBN1 c.356G>A p.(Cys119Tyr) het
-
FBN1_001195
heterozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
0
-
LOVD
+/.
5
c.364C>T
r.(?)
p.Arg122Cys
ACMG
pathogenic
g.48892414G>A
g.48600217G>A
-
-
FBN1_000829
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
-
c.364C>T
r.(?)
p.(Arg122Cys)
ACMG
pathogenic
g.48892414G>A
-
-
-
FBN1_000829
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+?/.
-
c.364C>T
r.(?)
p.(Arg122Cys)
ACMG
pathogenic
g.48892414G>A
-
-
-
FBN1_000829
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+/.
5
c.368G>A
r.(?)
p.Cys123Tyr
ACMG
pathogenic
g.48892410C>T
g.48600213C>T
-
-
FBN1_000828
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
-?/.
5
c.370A>G
r.(?)
p.Met124Val
ACMG
likely benign
g.48892408T>C
g.48600211T>C
-
-
FBN1_000827
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
5
c.379G>C
r.(?)
p.Gly127Arg
ACMG
VUS
g.48892399C>G
g.48600202C>G
-
-
FBN1_000826
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
-
c.385T>C
r.(?)
p.(Cys129Arg)
-
likely pathogenic
g.48892393A>G
g.48600196A>G
FBN1(NM_000138.4):c.385T>C(p.C129R)
-
FBN1_001168
-
PubMed: Sun 2018
-
-
Germline/De novo (untested)
?
206
-
0
-
LOVD
+/.
5
c.385T>G
r.(?)
p.(Cys129Gly)
-
pathogenic
g.48892393A>C
g.48600196A>C
-
-
FBN1_000075
de novo, germline and somatic mosaicism
-
-
-
De novo
-
1/200
-
0
-
Ramona Haji-Seyed-Javadi
+?/.
5
c.385T>G
r.(?)
p.Cys129Gly
ACMG
likely pathogenic
g.48892393A>C
g.48600196A>C
-
-
FBN1_000075
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
-
c.407G>T
r.(?)
p.(Cys136Phe)
ACMG
pathogenic
g.48892371C>A
-
-
-
FBN1_001164
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
Zexu Chen
?/.
5
c.412A>C
r.(?)
p.Lys138Gln
ACMG
VUS
g.48892366T>G
g.48600169T>G
-
-
FBN1_000825
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
5
c.415G>C
r.(?)
p.Gly139Arg
ACMG
VUS
g.48892363C>G
g.48600166C>G
-
-
FBN1_000824
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+/.
5
c.416G>T
r.(?)
p.(Gly139Val)
ACMG
likely pathogenic (dominant)
g.48892362C>A
g.48600165C>A
g.48892362C>A
-
FBN1_001025
-
Author 2020, submitted
-
-
De novo
-
-
-
0
-
Angel Zuniga
+?/.
5
c.434G>A
r.(?)
p.Cys145Tyr
ACMG
likely pathogenic
g.48892344C>T
g.48600147C>T
-
-
FBN1_000823
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
-
c.434G>A
r.(?)
p.(Cys145Tyr)
ACMG
pathogenic
g.48892344C>T
-
-
-
FBN1_000823
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
Zexu Chen
+/.
-
c.439C>T
r.(?)
p.(Gln147Ter)
-
pathogenic
g.48892339G>A
g.48600142G>A
FBN1(NM_000138.4):c.439C>T (p.Q147*)
-
FBN1_000966
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+?/.
-
c.439C>T
r.(?)
p.(Gln147Ter)
-
likely pathogenic
g.48892339G>A
g.48600142G>A
-
-
FBN1_000966
-
PubMed: Overwater 2018
-
-
Germline
-
-
-
0
-
Johan den Dunnen
-?/.
-
c.442+15G>T
r.(=)
p.(=)
-
likely benign
g.48892321C>A
-
FBN1(NM_000138.4):c.442+15G>T
-
FBN1_001091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/.
-
c.442+85C>G
r.(=)
p.(=)
-
likely benign
g.48892251G>C
g.48600054G>C
FBN1(NM_000138.4):c.442+85C>G
-
FBN1_001013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
-/.
-
c.443-35A>G
r.(=)
p.(=)
-
benign
g.48888610T>C
g.48596413T>C
-
-
FBN1_000032
-
-
-
rs116842662
Germline
-
-
-
0
-
Andreas Laner
-?/.
-
c.443-13C>T
r.(=)
p.(=)
-
likely benign
g.48888588G>A
g.48596391G>A
FBN1(NM_000138.4):c.443-13C>T
-
FBN1_000195
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
0
-
VKGL-NL_VUmc
+?/.
-
c.449G>A
r.(?)
p.(Cys150Tyr)
ACMG
pathogenic
g.48888569C>T
-
-
-
FBN1_001163
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
-
-
-
0
-
Zexu Chen
+?/.
6
c.454A>T
r.(?)
p.Ser152Cys
ACMG
likely pathogenic
g.48888564T>A
g.48596367T>A
-
-
FBN1_000822
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
6
c.461G>C
r.(?)
p.Cys154Ser
ACMG
likely pathogenic
g.48888557C>G
g.48596360C>G
-
-
FBN1_000821
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
?/.
6
c.466A>G
r.(?)
p.Asn156Asp
ACMG
VUS
g.48888552T>C
g.48596355T>C
-
-
FBN1_000820
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
+?/.
6
c.478T>C
r.(?)
p.Cys160Arg
ACMG
likely pathogenic
g.48888540A>G
g.48596343A>G
-
-
FBN1_000819
classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria
Baudhuin 2019, submitted
present
-
CLASSIFICATION record
-
-
-
0
-
Linnea Baudhuin
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