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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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%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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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
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-?/.
-
c.-181-280C>G
r.(=)
p.(=)
Unknown
-
likely benign
g.48937427G>C
-
FBN1(NM_000138.4):c.-181-280C>G
-
FBN1_001067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
_1_15i
c.-395_(1837+1_1838-1){0}
r.0?
p.0?
Unknown
-
likely pathogenic (dominant)
g.(48797345_48800778)_(48937985_?)del
g.(48505148_48508581)_(48645788_?)del
(?_1317)_(1837+1_1838-1)del
-
FBN1_001047
-
-
-
-
Germline
yes
-
-
0
-
DNA
MLPA, SEQ, SEQ-NG-I
blood
panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI
MFS
P1
-
-
F
no
India
-
-
0
-
-
1
Katta M Girisha
+/.
_1_66_
c.-395_*2684{0}
r.0
p.0
Unknown
ACMG
pathogenic
g.(?_48700504)_(48937986_?)del
g.(?_48408307)_(48645789_?)del
c.1_8616del
-
FBN1_001108
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
MLPA
-
-
MFS
EENT0048
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
+?/.
-
c.32T>G
r.(?)
p.(Leu11Arg)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.32T>G
r.(?)
p.(Leu11Arg)
Parent #1
-
pathogenic
g.48936935A>C
g.48644738A>C
-
-
FBN1_000203
-
PubMed: Overwater 2018
-
-
Germline
-
-
-
0
-
DNA
SEQ, SEQ-NG
-
gene panel
?
Pat15
PubMed: Overwater 2018
-
-
-
Netherlands
-
-
0
-
-
1
Johan den Dunnen
?/.
-
c.34G>A
r.(?)
p.(Gly12Arg)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.50T>C
r.(?)
p.Leu17Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.50T>C
r.(?)
p.Leu17Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.56C>T
r.(?)
p.Ser19Phe
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.59A>G
r.(?)
p.(Tyr20Cys)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.59A>G
r.(?)
p.(Tyr20Cys)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.59A>G
r.(?)
p.Tyr20Cys
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.79G>A
r.(?)
p.(Ala27Thr)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.79G>A
r.(?)
p.(Ala27Thr)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
2
c.79G>A
r.(?)
p.Ala27Thr
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.79G>A
r.(?)
p.(Ala27Thr)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.83A>G
r.(?)
p.Asn28Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.106G>A
r.(?)
p.(Glu36Lys)
Unknown
-
VUS
g.48936861C>T
g.48644664C>T
-
-
FBN1_000858
-
-
-
-
Unknown
-
-
-
0
-
DNA
SEQ
-
-
?
-
-
-
F
-
-
-
-
0
-
-
1
IMGAG
-?/.
2
c.124G>C
r.(?)
p.Ala42Pro
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.133A>G
r.(?)
p.(Arg45Gly)
Unknown
-
VUS
g.48936834T>C
-
FBN1(NM_000138.4):c.133A>G (p.R45G)
-
FBN1_001061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.137G>A
r.(?)
p.Gly46Asp
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.139G>A
r.(?)
p.Gly47Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.149A>T
r.(?)
p.His50Leu
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.150C>T
r.(?)
p.(His50=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.153C>A
r.(?)
p.Asp51Glu
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.156G>T
r.(?)
p.(Ala52=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.164+1G>A
r.spl?
p.?
Parent #1
-
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
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
0
-
-
1
Mohammed Faruq
-?/.
-
c.164+10C>G
r.(=)
p.(=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.164+130G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.48936673C>T
-
FBN1(NM_000138.4):c.164+130G>A
-
FBN1_001092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.172G>A
r.(?)
p.(Val58Ile)
Unknown
-
VUS
g.48905282C>T
-
FBN1(NM_000138.4):c.172G>A (p.V58I)
-
FBN1_001187
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.175T>C
r.(?)
p.(Cys59Arg)
Parent #1
-
pathogenic (dominant)
g.48905279A>G
g.48613082A>G
-
-
FBN1_000991
-
PubMed: Wei 2011
-
-
Germline
-
-
-
0
-
DNA
SEQ, SEQ-NG
-
gene panel
MFS
P3
PubMed: Wei 2011
-
-
-
China
-
-
0
-
-
1
Johan den Dunnen
+?/.
3
c.184C>T
r.(?)
p.Arg62Cys
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
Maternal (confirmed)
ACMG
pathogenic (dominant)
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
DNA
SEQ-NG-I
-
-
ECTOL1
EENT009
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
Maternal (confirmed)
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
DNA
SEQ-NG-I
blood
gene panel
ECTOL1
EENT0018
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
-
China
-
-
0
-
-
1
Zexu Chen
+?/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
Paternal (confirmed)
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
DNA
SEQ-NG-I
-
-
MFS
EENT0045
PubMed: Chen 2021
,
Journal: Chen 2021
-
F
-
China
-
-
0
-
-
1
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
Unknown
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
blood
gene panel
ECTOL1
EENT0055
PubMed: Chen 2021
,
Journal: Chen 2021
-
F
-
China
-
-
0
-
-
1
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
Unknown
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
-
-
ECTOL1
EENT0067
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
Unknown
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
-
-
ECTOL1
EENT0068
PubMed: Chen 2021
,
Journal: Chen 2021
-
F
-
China
-
-
0
-
-
1
Zexu Chen
+/.
-
c.184C>T
r.(?)
p.(Arg62Cys)
Unknown
ACMG
pathogenic
g.48905270G>A
-
-
-
FBN1_000847
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
-
-
ECTOL1
EENT0094
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
-?/.
3
c.185G>A
r.(?)
p.Arg62His
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.188A>G
r.(?)
p.Tyr63Cys
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.199T>C
r.(?)
p.(Cys67Arg)
Unknown
ACMG
likely pathogenic
g.48905255A>G
-
-
-
FBN1_001166
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
-
-
MFS
EENT0038
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
+?/.
3
c.202T>A
r.(?)
p.Cys68Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.212G>C
r.(?)
p.Trp71Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
c.223C>T
r.(?)
p.Pro75Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
3
c.229G>A
r.(?)
p.Gly77Arg
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.239G>A
r.(?)
p.Cys80Tyr
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.247+1G>A
r.spl?
p.?
Unknown
-
pathogenic
g.48905206C>T
-
FBN1(NM_000138.4):c.247+1G>A
-
FBN1_001060
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.248-17C>G
r.(=)
p.(=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
4
c.260A>G
r.(?)
p.His87Arg
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.266G>A
r.(?)
p.Cys89Tyr
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.266G>C
r.(?)
p.Cys89Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.273T>C
r.(?)
p.(Asp91=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.281G>T
r.(?)
p.Cys94Phe
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.284C>T
r.(?)
p.(Ser95Leu)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.284C>T
r.(?)
p.(Ser95Leu)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
4
c.287G>C
r.(?)
p.Arg96Thr
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.299G>A
r.(?)
p.Cys100Tyr
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.299G>T
r.(?)
p.Cys100Phe
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.305G>T
r.(?)
p.Cys102Phe
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.305G>T
r.(?)
p.(Cys102Phe)
Unknown
ACMG
pathogenic
g.48902966C>A
-
-
-
FBN1_000832
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
-
-
MFS
EENT0100
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
-
China
-
-
0
-
-
1
Zexu Chen
+?/.
-
c.306C>G
r.(?)
p.(Cys102Trp)
Maternal (confirmed)
ACMG
pathogenic (dominant)
g.48902965G>C
-
-
-
FBN1_001165
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
DNA
SEQ-NG-I
-
-
MFS
EENT0070
PubMed: Chen 2021
,
Journal: Chen 2021
-
F
-
China
-
-
0
-
-
1
Zexu Chen
-/.
-
c.306C>T
r.(=)
p.(=)
Parent #1
-
benign
g.48902965G>A
g.48610768G>A
-
-
FBN1_000033
found in a patient in combination with pathogenic mutation p.Cys805Trp
-
-
rs25388
Germline
-
-
-
0
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
0
-
-
1
Andreas Laner
-/.
-
c.306C>T
r.(?)
p.(Cys102=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.306C>T
r.(?)
p.(Cys102=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.306C>T
r.(?)
p.(Cys102=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.319del
r.(?)
p.(Ile107*)
Unknown
-
pathogenic
g.48902952del
-
FBN1(NM_000138.4):c.319delA (p.I107*)
-
FBN1_001222
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.328T>C
r.(?)
p.(Ser110Pro)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.338C>G
r.(?)
p.Ser113Cys
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.338C>G
r.(?)
p.(Ser113Cys)
Unknown
ACMG
likely pathogenic
g.48902933G>C
-
-
-
FBN1_000831
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
-
-
-
0
-
DNA
SEQ-NG-I
blood
gene panel
MFS
EENT0026
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
-?/.
-
c.346+262G>A
r.(=)
p.(=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.347-13_347-11del
r.(=)
p.(=)
Unknown
-
likely benign
g.48892450_48892452del
-
FBN1(NM_000138.4):c.347-13_347-11delCTT
-
FBN1_001186
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
5
c.353A>G
r.(?)
p.His118Arg
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.356G>A
r.(?)
p.(Cys119Tyr)
Unknown
ACMG
VUS
g.48892422C>T
g.48600225C>T
FBN1 c.356G>A p.(Cys119Tyr) het
-
FBN1_001195
heterozygous
PubMed: Lenassi 2020
-
-
Germline
?
-
-
0
-
DNA
SEQ-NG
blood
144 genes panel tested
retinal disease
17008394
PubMed: Lenassi 2020
retrospective analysis
M
-
(United Kingdom (Great Britain))
-
-
0
-
-
1
LOVD
+/.
5
c.364C>T
r.(?)
p.Arg122Cys
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.364C>T
r.(?)
p.(Arg122Cys)
Unknown
ACMG
pathogenic
g.48892414G>A
-
-
-
FBN1_000829
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
-
-
MFS
EENT0103
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
+?/.
-
c.364C>T
r.(?)
p.(Arg122Cys)
Unknown
ACMG
pathogenic
g.48892414G>A
-
-
-
FBN1_000829
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
blood
gene panel
MFS
EENT0120
PubMed: Chen 2021
,
Journal: Chen 2021
-
F
-
China
-
-
0
-
-
1
Zexu Chen
+/.
5
c.368G>A
r.(?)
p.Cys123Tyr
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
5
c.370A>G
r.(?)
p.Met124Val
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
5
c.379G>C
r.(?)
p.Gly127Arg
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.385T>C
r.(?)
p.(Cys129Arg)
Unknown
-
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
-
DNA
SEQ-NG-I
blood
-
?
WHP106
PubMed: Sun 2018
-
M
-
China
-
-
0
-
-
1
LOVD
+/.
5
c.385T>G
r.(?)
p.(Cys129Gly)
Unknown
-
pathogenic
g.48892393A>C
g.48600196A>C
-
-
FBN1_000075
de novo, germline and somatic mosaicism
-
-
-
De novo
-
1/200
-
0
-
DNA
SEQ
-
-
MFS
-
-
-
M
-
Iran
Iranian
-
0
-
-
1
Ramona Haji-Seyed-Javadi
+?/.
5
c.385T>G
r.(?)
p.Cys129Gly
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.407G>T
r.(?)
p.(Cys136Phe)
Unknown
ACMG
pathogenic
g.48892371C>A
-
-
-
FBN1_001164
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
yes
-
-
0
-
DNA
SEQ-NG-I
-
-
MFS
EENT0086
PubMed: Chen 2021
,
Journal: Chen 2021
-
F
-
China
-
-
0
-
-
1
Zexu Chen
?/.
5
c.412A>C
r.(?)
p.Lys138Gln
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
5
c.415G>C
r.(?)
p.Gly139Arg
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
5
c.416G>T
r.(?)
p.(Gly139Val)
Unknown
ACMG
likely pathogenic (dominant)
g.48892362C>A
g.48600165C>A
g.48892362C>A
-
FBN1_001025
-
Author 2020, submitted
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
blood
-
MFS
-
Author 2020, submitted
-
F
no
Spain
white
>43y
0
-
-
1
Angel Zuniga
+?/.
5
c.434G>A
r.(?)
p.Cys145Tyr
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.434G>A
r.(?)
p.(Cys145Tyr)
Unknown
ACMG
pathogenic
g.48892344C>T
-
-
-
FBN1_000823
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
De novo
-
-
-
0
-
DNA
SEQ-NG-I
-
-
MFS
EENT0114
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
+/.
-
c.439C>T
r.(?)
p.(Gln147Ter)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.439C>T
r.(?)
p.(Gln147Ter)
Parent #1
-
likely pathogenic
g.48892339G>A
g.48600142G>A
-
-
FBN1_000966
-
PubMed: Overwater 2018
-
-
Germline
-
-
-
0
-
DNA
SEQ, SEQ-NG
-
gene panel
?
Pat16
PubMed: Overwater 2018
-
-
-
Netherlands
-
-
0
-
-
1
Johan den Dunnen
-?/.
-
c.442+15G>T
r.(=)
p.(=)
Unknown
-
likely benign
g.48892321C>A
-
FBN1(NM_000138.4):c.442+15G>T
-
FBN1_001091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.442+85C>G
r.(=)
p.(=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.443-35A>G
r.(=)
p.(=)
Parent #1
-
benign
g.48888610T>C
g.48596413T>C
-
-
FBN1_000032
-
-
-
rs116842662
Germline
-
-
-
0
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
0
-
-
1
Andreas Laner
-?/.
-
c.443-13C>T
r.(=)
p.(=)
Unknown
-
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.449G>A
r.(?)
p.(Cys150Tyr)
Unknown
ACMG
pathogenic
g.48888569C>T
-
-
-
FBN1_001163
-
PubMed: Chen 2021
,
Journal: Chen 2021
-
-
Germline
-
-
-
0
-
DNA
SEQ-NG-I
blood
gene panel
MFS
EENT0031
PubMed: Chen 2021
,
Journal: Chen 2021
-
M
-
China
-
-
0
-
-
1
Zexu Chen
+?/.
6
c.454A>T
r.(?)
p.Ser152Cys
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
6
c.461G>C
r.(?)
p.Cys154Ser
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
6
c.466A>G
r.(?)
p.Asn156Asp
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
6
c.478T>C
r.(?)
p.Cys160Arg
Unknown
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
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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