Global Variome shared LOVD
FZD4 (frizzled family receptor 4)
LOVD v.3.0 Build 30b [
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Curator:
Carmel Toomes
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_012193.3 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)
conflicting
association
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
arrayMET = array for methylation analysis
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 = single 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-RNA = next-generation sequencing RNA
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
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"
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combination
Text
*|Ter !fs
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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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635 entries on 7 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
+?/.
2
c.1498de1A
r.(?)
p.(Thr500Leufs*13)
Unknown
-
likely pathogenic
g.86662303del
g.86951261del
FZD4 c1498de1A, T500fsX512
-
FZD4_000008
heterozygous
PubMed: Toomes 2004
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
EVR1
family c1498delA, individual 1
PubMed: Toomes 2004
family numbers and patient numbers unavailable; family c1498delA, individual 1 (proband's father)
-
-
-
British
-
-
-
-
1
LOVD
+?/.
2
c.1498de1A
r.(?)
p.(Thr500Leufs*13)
Unknown
-
likely pathogenic
g.86662303del
g.86951261del
FZD4 c1498de1A, T500fsX512
-
FZD4_000008
heterozygous
PubMed: Toomes 2004
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
EVR1
family c1498delA, individual 2
PubMed: Toomes 2004
family numbers and patient numbers unavailable; family c1498delA, individual 1 (proband)
M
-
-
British
-
-
-
-
1
LOVD
+?/.
2
c.1501_1502de1CT
r.(?)
p.(Leu501Serfs*33)
Unknown
-
likely pathogenic
g.86662298_86662299del
g.86951256_86951257del
FZD4 c1501-1502de1CT, L501fsX533
-
FZD4_000009
heterozygous
PubMed: Toomes 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
family c1501-1502delCT
PubMed: Toomes 2004
family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002;
-
-
-
North American family
-
-
-
-
1
LOVD
+?/.
2
c.1501_1502de1CT
r.(?)
p.(Leu501Serfs*33)
Unknown
-
likely pathogenic
g.86662298_86662299del
g.86951256_86951257del
FZD4 c1501-1502de1CT, L501fsX533
-
FZD4_000009
heterozygous
PubMed: Toomes 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
family c1501-1502delCT
PubMed: Toomes 2004
family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002;
-
-
-
North American family
-
-
-
-
1
LOVD
+?/.
2
c.1501_1502de1CT
r.(?)
p.(Leu501Serfs*33)
Unknown
-
likely pathogenic
g.86662298_86662299del
g.86951256_86951257del
FZD4 c1501-1502de1CT, L501fsX533
-
FZD4_000009
heterozygous
PubMed: Toomes 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
family c1501-1502delCT
PubMed: Toomes 2004
family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002;
-
-
-
North American family
-
-
-
-
1
LOVD
+?/.
2
c.1501_1502de1CT
r.(?)
p.(Leu501Serfs*33)
Unknown
-
likely pathogenic
g.86662298_86662299del
g.86951256_86951257del
FZD4 c1501-1502de1CT, L501fsX533
-
FZD4_000009
heterozygous
PubMed: Toomes 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
family c1501-1502delCT
PubMed: Toomes 2004
family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002;
-
-
-
North American family
-
-
-
-
1
LOVD
+?/.
2
c.1501_1502de1CT
r.(?)
p.(Leu501Serfs*33)
Unknown
-
likely pathogenic
g.86662298_86662299del
g.86951256_86951257del
FZD4 c1501-1502de1CT, L501fsX533
-
FZD4_000009
heterozygous
PubMed: Toomes 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
family c1501-1502delCT
PubMed: Toomes 2004
family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002;
-
-
-
North American family
-
-
-
-
1
LOVD
+?/.
2
c.1501_1502de1CT
r.(?)
p.(Leu501Serfs*33)
Unknown
-
likely pathogenic
g.86662298_86662299del
g.86951256_86951257del
FZD4 c1501-1502de1CT, L501fsX533
-
FZD4_000009
heterozygous
PubMed: Toomes 2004
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
family c1501-1502delCT
PubMed: Toomes 2004
family numbers and patient numbers unavailable; family c1501-1502delCT; three generations family, 12 affected members - may be related to the one described originally in Robitaille et al., 2002;
-
-
-
North American family
-
-
-
-
1
LOVD
-?/.
-
c.-12C>A
r.(?)
p.(=)
Unknown
-
likely benign
g.86666139G>T
g.86955097G>T
FZD4(NM_012193.4):c.-12C>A
-
FZD4_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_1i
c.-313_(285+1_286-1)[0]
r.0?
p.0?
Unknown
-
pathogenic (dominant)
g.(86663513_86665842)_(86666440_?)del
g.(86952471_86954800)_(86955398_?)del
del exon 1
-
FZD4_000077
-
PubMed: Mammo 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
?
-
-
EVR1, SMA
Patient 1 Mammo 2015
PubMed: Mammo 2015
-
M
no
Taiwan
-
00y08m
-
-
-
1
Dimitra Ilektra Lerou
+?/.
_1_2_
c.-313_*5467{0}
r.0
p.0
Parent #1
-
likely pathogenic (dominant)
g.(?_86656717)_(86666440_?)del
g.(?_86945675)_(86955398_?)del
whole gene deletion
-
FZD4_000000
-
PubMed: Seo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Pat13
PubMed: Seo 2015
-
M
-
Korea
-
-
-
-
-
1
LOVD
+/.
_1_2_
c.-313_*5467{0}
r.0
p.0
Unknown
-
pathogenic
g.(?_77962352)_(114014790_?)del
g.(?_78251306)_(114144068_?)del
-
46,XX,t(5;8)(p15.3;p23.1),der(11)t(11;16)(q23.3;q22.3)del(11)(q14.1q23.2)inv(11;16)(p15;q24),der(16)t(11;16)(q23.3;q22.3)del(16)(q22.3q23.1)
FZD4_000166
hg17 35Mb interstitial deletion 11q14.1-q23.2 (77.64 to 113.52 Mb) and 1.14Mb deletion 16q22.3 (72.18 to 73.32 Mb)
PubMed: Li 2006
-
-
De novo
-
-
-
-
-
DNA
FISH, STR, arraySNP, arrayCGH, SEQ
blood
-
?
?
PubMed: Li 2006
-
F
-
-
Southeast Asian
3y4m
-
-
-
1
LOVD
+?/.
1
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
g.?
Del/inser c.40
-
FZD4_000000
described only as Del/ins c.40 - not possible to pinpoint the actual variant; heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
EVR1
1
PubMed: Dailey 2015
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.23del
r.(?)
p.(Pro8ArgfsTer53)
Unknown
-
likely pathogenic (dominant)
g.86666106del
g.86955064del
23delC
-
FZD4_000191
-
PubMed: Jimenez 2022
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
Pat3
PubMed: Jimenez 2022
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.40_49del
r.(?)
p.(Pro14SerfsTer44)
Unknown
-
pathogenic
g.86666089_86666098del
g.86955047_86955056del
-
-
FZD4_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.40_49del
r.(?)
p.(Pro14Serfs*44)
Both (homozygous)
-
pathogenic
g.86666089_86666098del
g.86955047_86955056del
40_49delCCCGGGGGCG
-
FZD4_000050
-
PubMed: TKhan 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
venous blood
-
EVR;FEVR
Patient 1 Khan 2016
PubMed: Khan 2016
2-generation family, unaffected parents/sisters, two affected brothers
M
?
United Arab Emirates
-
?
-
-
-
2
Dimitra Ilektra Lerou
+/.
-
c.40_49del
r.(?)
p.(Pro14Serfs*44)
Both (homozygous)
-
pathogenic
g.86666089_86666098del
g.86955047_86955056del
40_49delCCCGGGGGCG
-
FZD4_000050
-
PubMed: Khan 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ
venous blood
-
EVR;FEVR
Patient 2 Khan 2016
PubMed: Khan 2016
2-generation family, unaffected parents/sisters, two affected brothers
M
?
United Arab Emirates
-
?
-
no
-
1
Dimitra Ilektra Lerou
?/.
-
c.40_49del
r.(?)
p.(Pro14SerfsTer44)
Maternal (confirmed)
-
VUS
g.86666089_86666098del
g.86955047_86955056del
-
-
FZD4_000050
-
PubMed: Li 2018
-
-
Germline
no
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
C160201C00901
PubMed: Li 2018
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.40_49del
r.(?)
p.(Pro14SerfsTer44)
Paternal (confirmed)
ACMG
pathogenic
g.86666089_86666098del
g.86955047_86955056del
FZD4 c.40_49del, p.P14fs
-
FZD4_000050
heterozygous
PubMed: Li 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
8
PubMed: Li 2020
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.40_49del
r.(?)
p.(Pro14Serfs*44)
Parent #1
-
pathogenic (dominant)
g.86666089_86666098del
g.86955047_86955056del
39-49delCCCGGGGGCG (P14fsX57)
-
FZD4_000050
-
PubMed: Jia 2010
-
-
Germline
yes
-
-
-
-
DNA
?
whole blood
-
EVR;FEVR
Fam1
PubMed: Jia 2010
4-generation family, 6 affected (3F, 3M) father/paternal aunt/paternal uncle, cousins (2) and siblings (2)
F
no
China
-
-
-
-
-
6
Dimitra Ilektra Lerou
?/.
-
c.47G>A
r.(?)
p.(Gly16Asp)
Unknown
-
VUS
g.86666081C>T
g.86955039C>T
FZD4(NM_012193.3):c.47G>A (p.G16D)
-
FZD4_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.48C>T
r.(?)
p.(Gly16=)
Unknown
-
benign
g.86666080G>A
g.86955038G>A
FZD4(NM_012193.4):c.48C>T (p.G16=)
-
FZD4_000036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.51_52insCCGGGGGCGC
r.(?)
p.(Gly18Profs*115)
Unknown
-
pathogenic
g.86666077_86666078insCGCCCCCGGG
g.86955035_86955036insCGCCCCCGGG
c.51_52insCCGGGGGCGC, p.(Gly18Profs*115)
-
FZD4_000157
heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14064
PubMed: Wang 2019
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.65G>A
r.(?)
p.(Gly22Glu)
Unknown
-
pathogenic
g.86666063C>T
g.86955021C>T
p. G22E
-
FZD4_000082
-
PubMed: Jia 2010
-
-
De novo
yes
-
-
-
-
DNA
?
whole blood
-
EVR;FEVR
Fam2
PubMed: Jia 2010
3-generation family, affected only the proband
F
-
China
-
00y08m
-
-
-
1
Dimitra Ilektra Lerou
-/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
benign
g.86666031G>A
g.86954989G>A
-
-
FZD4_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
pathogenic
g.86666031G>A
g.86954989G>A
P33S
-
FZD4_000033
-
PubMed: MacDonald 2005
-
-
Germline/De novo (untested)
yes
-
-
-
-
DNA
SEQ-NG
blood
-
EVR1
Patient 1 MacDonald 2005
PubMed: MacDonald 2005
-
?
no
(United States)
-
?
-
-
-
1
Dimitra Ilektra Lerou
+/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Paternal (confirmed)
-
pathogenic (dominant)
g.86666031G>A
g.86954989G>A
-
-
FZD4_000033
-
PubMed: Nallathambi 2006
-
-
Germline
yes
-
-
-
-
DNA
?
blood
-
EVR;FEVR
Fam1PatIV3(Pat16)
PubMed: Nallathambi 2006
4-generation family, affected father/son
M
yes
India
-
18y
-
-
-
2
Dimitra Ilektra Lerou
+/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
pathogenic (dominant)
g.86666031G>A
g.86954989G>A
-
-
FZD4_000033
-
PubMed: Nallathambi 2006
-
-
Germline/De novo (untested)
yes
-
-
-
-
DNA
?
blood
-
EVR;FEVR
Fam1PatIII6(Pat26)
PubMed: Nallathambi 2006
father
M
no
India
-
46y
-
-
-
1
Dimitra Ilektra Lerou
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
EVR1
5
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Paternal (confirmed)
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
6
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
6-2
PubMed: Drenser 2009
father of 6 (mentioned in the paper, no numbering)
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Paternal (confirmed)
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
7
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
7-2
PubMed: Drenser 2009
father of 7 (mentioned in the paper, no numbering)
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
EVR1
8
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
EVR1
9
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Maternal (confirmed)
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
ROP
10
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Maternal (confirmed)
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
ROP
10-2
PubMed: Drenser 2009
twin of 10 (mentioned in the paper, no numbering)
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Maternal (confirmed)
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
ROP
10-3
PubMed: Drenser 2009
mother of 10 and 10-2 (mentioned in the paper, no numbering)
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
ROP
11
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Maternal (confirmed)
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
ROP
11-2
PubMed: Drenser 2009
mother of 11 (mentioned in the paper, no numbering)
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
ROP
12
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
likely pathogenic
g.86666031G>A
g.86954989G>A
FZD4 b97 (CCG>TCG), b502 (CCC>TCC), P33S/P168S
-
FZD4_000033
heterozygous
PubMed: Drenser 2009
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
ROP
13
PubMed: Drenser 2009
-
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
19
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
20
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
21
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
22
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
23
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
24
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
25
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
26
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
27
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
28
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ROP
29
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ROP
30
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ROP
31
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ROP
32
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ROP
33
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ROP
34
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ROP
35
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
36
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
37
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
EVR1
38
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T;c.502C>T, P33S;P168S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ND
39
PubMed: Dailey 2015
20 families, 24 members: mutations found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
?/.
1
c.97C>T
r.(?)
p.(Pro33Ser)
Unknown
-
association
g.86666031G>A
g.86954989G>A
FZD4 c.97C>T, P33S
-
FZD4_000033
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
mutations P33S and P168S (alone or in combination): 5.4% (28/520) of the subjects: FEVR, 10.7% ROP, 3.1% healthy full-term infants
-
-
-
DNA
SEQ
blood
-
ROP
40
PubMed: Dailey 2015
20 families, 24 members: mutation combination found in familial exudative vitreoretinopathy, retinopathy of prematurity, persistent fetal vasculature syndrome, Norrie disease, healthy full-term infants
-
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.107G>A
r.(?)
p.(Gly36Asp)
Parent #1
-
pathogenic
g.86666021C>T
g.86954979C>T
-
-
FZD4_000011
0/400 control chromosomes
Toomes 2004b
-
-
Germline
-
1/40
-
-
-
DNA
SEQ
-
-
EVR;FEVR
-
Toomes 2004b
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.107G>A
r.(?)
p.(Gly36Asp)
Unknown
-
pathogenic
g.86666021C>T
g.86954979C>T
G36D
-
FZD4_000011
-
PubMed: Tang 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
buccal swabs/blood
-
EVR1
Patient 11 Tang 2016
PubMed: Tang 2016
-
M
no
China
Southern Chinese
08y
-
-
-
1
Dimitra Ilektra Lerou
+?/.
1
c.107G>A
r.(?)
p.(Gly36Asp)
Unknown
-
likely pathogenic
g.86666021C>T
g.86954979C>T
FZD4 107G?>?A, Gly36Asp
-
FZD4_000011
-
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
1
c.107G>A
r.(?)
p.(Gly36Asp)
Unknown
-
likely pathogenic
g.86666021C>T
g.86954979C>T
FZD4 c107G>A, G36D
-
FZD4_000011
heterozygous
PubMed: Toomes 2004
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
EVR1
isolated G36D patient
PubMed: Toomes 2004
family numbers and patient numbers unavailable; isolated G36D patient
-
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.118G>C
r.(?)
p.(Glu40Gln)
Parent #1
-
pathogenic
g.86666010C>G
g.86954968C>G
-
-
FZD4_000012
0/100 control chromosomes; carries pathogenic variant LRP5:c.4489-1G>A
PubMed: Nikopoulos 2010
-
-
Germline
-
1/8
-
-
-
DNA
SEQ
-
-
EVR;FEVR
-
PubMed: Nikopoulos 2010
-
-
-
-
-
-
-
-
-
1
Frans Cremers
?/.
-
c.118G>C
r.(?)
p.(Glu40Gln)
Unknown
-
VUS
g.86666010C>G
g.86954968C>G
-
-
FZD4_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.118G>C
r.(?)
p.(Glu40Gln)
Unknown
-
VUS
g.86666010C>G
g.86954968C>G
-
-
FZD4_000012
-
PubMed: Tiwari 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
Case71133
PubMed: Tiwari 2016
see paper
F
-
Switzerland
-
-
-
-
-
1
LOVD
+/.
-
c.118G>T
r.(?)
p.(Glu40Ter)
Unknown
-
pathogenic
g.86666010C>A
g.86954968C>A
-
-
FZD4_000115
-
PubMed: Salvo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
1076003
PubMed: Salvo 2015
family
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.118G>T
r.(?)
p.(Glu40*)
Unknown
-
likely pathogenic
g.86666010C>A
g.86954968C>A
118G>T, Glu40X
-
FZD4_000115
-
PubMed: Chen 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
custom genetic pediatric retinal disease panel (Tang et al., 2017)
retinal disease
446
PubMed: Chen 2020
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.124G>T
r.(?)
p.(Glu42Ter)
Unknown
-
pathogenic
g.86666004C>A
g.86954962C>A
-
-
FZD4_000114
-
PubMed: Salvo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
2679002
PubMed: Salvo 2015
family
-
-
United States
-
-
-
-
-
1
LOVD
+/.
1
c.133T>A
r.(?)
p.(Cys45Ser)
Maternal (confirmed)
-
pathogenic
g.86665995A>T
g.86954953A>T
C45S
-
FZD4_000076
-
PubMed: Tang 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
buccal swabs/blood
-
EVR1
Patient 7 Tang 2016
PubMed: Tang 2016
2-generation family, mutation-carrying mother/elder sister, elder sister asymptomatic
F
no
China
Southern Chinese
00y07m
-
-
-
1
Dimitra Ilektra Lerou
+?/.
-
c.133T>A
r.(?)
p.(Cys45Ser)
Unknown
-
likely pathogenic
g.86665995A>T
g.86954953A>T
133T>A, Cys45Ser
-
FZD4_000076
-
PubMed: Chen 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
custom genetic pediatric retinal disease panel (Tang et al., 2017)
retinal disease
43
PubMed: Chen 2020
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.133T>C
r.(?)
p.(Cys45Arg)
Paternal (confirmed)
-
pathogenic
g.86665995A>G
g.86954953A>G
C45R
-
FZD4_000075
-
PubMed: Tang 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
buccal swabs/blood
-
EVR1
Patient 6 Tang 2016
PubMed: Tang 2016
2-generation family, affected father/elder brother
M
no
China
Southern Chinese
08y
-
-
-
1
Dimitra Ilektra Lerou
+?/.
-
c.133T>C
r.(?)
p.(Cys45Arg)
Unknown
-
likely pathogenic
g.86665995A>G
g.86954953A>G
133T>C, Cys45Arg
-
FZD4_000075
-
PubMed: Chen 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
custom genetic pediatric retinal disease panel (Tang et al., 2017)
retinal disease
26
PubMed: Chen 2020
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.134G>A
r.(?)
p.(Cys45Tyr)
Unknown
-
pathogenic
g.86665994C>T
g.86954952C>T
C45Y
-
FZD4_000074
-
PubMed: Tang 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
buccal swabs/blood
-
EVR1
Patient 5 Tang 2016
PubMed: Tang 2016
2-generation, affected but asymptomatic father
M
no
China
Southern Chinese
06y
-
-
-
1
Dimitra Ilektra Lerou
+/.
-
c.134G>A
r.(?)
p.(Cys45Tyr)
Unknown
-
pathogenic
g.86665994C>T
g.86954952C>T
-
-
FZD4_000074
-
PubMed: Salvo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
1328003
PubMed: Salvo 2015
family
-
-
United States
-
-
-
-
-
1
LOVD
+?/.
1
c.134G>A
r.(?)
p.(Cys45Tyr)
Unknown
-
likely pathogenic
g.86665994C>T
g.86954952C>T
FZD4 134G?>?A, Cys45Tyr
-
FZD4_000074
-
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.134G>A
r.(?)
p.(Cys45Tyr)
Unknown
-
likely pathogenic
g.86665994C>T
g.86954952C>T
c.134C>T, p.(Cys45Tyr)
-
FZD4_000074
error in annotation: NM_012193.3(FZD4):c.134C>T instead of G>A, heterozygous
PubMed: Wang 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
13210
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.134G>A
r.(?)
p.(Cys45Tyr)
Unknown
-
likely pathogenic
g.86665994C>T
g.86954952C>T
134G>A, Cys45Tyr
-
FZD4_000074
-
PubMed: Chen 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
custom genetic pediatric retinal disease panel (Tang et al., 2017)
retinal disease
29
PubMed: Chen 2020
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.134G>A
r.(?)
p.(Cys45Tyr)
Unknown
-
pathogenic
g.86665994C>T
g.86954952C>T
FZD4 444G->A (C45Y)
-
FZD4_000074
obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Zhang 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
capture panel of the genes related to congenital cataract and retinal diseases
retinal disease
FamA_II:1
PubMed: Zhang 2010
3-generation family, 4 affected (F, 3M)
M
-
-
-
-
-
-
-
4
LOVD
+/.
1
c.134G>A
r.(?)
p.(Cys45Tyr)
Unknown
-
pathogenic
g.86665994C>T
g.86954952C>T
FZD4 444G->A (C45Y)
-
FZD4_000074
obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Zhang 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
capture panel of the genes related to congenital cataract and retinal diseases
retinal disease
FamA_II:3
PubMed: Zhang 2010
sister
F
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.134G>A
r.(?)
p.(Cys45Tyr)
Paternal (confirmed)
-
pathogenic
g.86665994C>T
g.86954952C>T
FZD4 444G->A (C45Y)
-
FZD4_000074
obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Zhang 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
capture panel of the genes related to congenital cataract and retinal diseases
retinal disease
FamA_III:1
PubMed: Zhang 2010
son
M
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.134G>A
r.(?)
p.(Cys45Tyr)
Maternal (confirmed)
-
pathogenic
g.86665994C>T
g.86954952C>T
FZD4 444G->A (C45Y)
-
FZD4_000074
obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Zhang 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
capture panel of the genes related to congenital cataract and retinal diseases
retinal disease
FamA_III:3
PubMed: Zhang 2010
nephew
M
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.134G>C
r.(?)
p.(Cys45Ser)
Paternal (confirmed)
-
VUS
g.86665994C>G
g.86954952C>G
-
-
FZD4_000143
-
PubMed: Li 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
C160926C00701
PubMed: Li 2018
-
?
-
China
-
-
-
-
-
1
LOVD
+?/.
1
c.141dup
r.(?)
p.(Ile48Hisfs*82)
Unknown
-
likely pathogenic
g.86665990dup
g.86954948dup
FZD4 141dup, Ile48fs
-
FZD4_000156
-
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
?
PubMed: Wang 2019
-
-
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.142dup
r.(?)
p.(Ile48Asnfs*82)
Unknown
-
pathogenic
g.86665986dup
g.86954944dup
c.142dup, p.(Ile48Asnfs*82)
-
FZD4_000155
heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14630
PubMed: Wang 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
1
c.151T>A
r.(?)
p.(Ser51Thr)
Unknown
-
likely pathogenic
g.86665977A>T
g.86954935A>T
FZD4 c.151T>A, S51T
-
FZD4_000184
heterozygous
PubMed: Dailey 2015
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
-
EVR1
3
PubMed: Dailey 2015
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.158del
r.(?)
p.(Cys53SerfsTer8)
Maternal (confirmed)
-
pathogenic
g.86665970del
g.86954928del
-
-
FZD4_000142
-
PubMed: Li 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
C150713C02201
PubMed: Li 2018
-
?
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.158G>C
r.(?)
p.(Cys53Ser)
Unknown
-
pathogenic
g.86665970C>G
g.86954928C>G
C53S
-
FZD4_000073
-
PubMed: Tang 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
buccal swabs/blood
-
EVR1
Patient 8 Tang 2016
PubMed: Tang 2016
2-generation family, mutation-carrying mother/sister both asymptomatic
M
no
China
Southern Chinese
08y
-
-
-
1
Dimitra Ilektra Lerou
+?/.
-
c.160C>T
r.(?)
p.(Gln54Ter)
Parent #1
-
likely pathogenic (dominant)
g.86665968G>A
g.86954926G>A
-
-
FZD4_000110
-
PubMed: Seo 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Pat1
PubMed: Seo 2015
-
M
-
Korea
-
-
-
-
-
1
LOVD
+?/.
-
c.160C>T
r.(?)
p.(Gln54*)
Unknown
ACMG
pathogenic
g.86665968G>A
-
-
-
FZD4_000110
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
EVR;FEVR
IR_GH_0147
-
-
M
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
+?/.
1
c.169G>T
r.(?)
p.(Gly57Cys)
Unknown
-
likely pathogenic
g.86665959C>A
g.86954917C>A
FZD4 c.169G>T, G57C
-
FZD4_000183
heterozygous
PubMed: Dailey 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
4-1
PubMed: Dailey 2015
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.169G>T
r.(?)
p.(Gly57Cys)
Unknown
-
likely pathogenic
g.86665959C>A
g.86954917C>A
FZD4 c.169G>T, G57C
-
FZD4_000183
heterozygous
PubMed: Dailey 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
EVR1
4-2
PubMed: Dailey 2015
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.173A>G
r.(?)
p.(Tyr58Cys)
Unknown
-
pathogenic
g.86665955T>C
g.86954913T>C
FZD4 479A->G (Y58C)
-
FZD4_000182
obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Zhang 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
capture panel of the genes related to congenital cataract and retinal diseases
retinal disease
FamB_I:1
PubMed: Zhang 2010
3-generation family, 5 affectd (2F, 3M)
M
-
-
-
-
-
-
-
5
LOVD
+/.
1
c.173A>G
r.(?)
p.(Tyr58Cys)
Paternal (confirmed)
-
pathogenic
g.86665955T>C
g.86954913T>C
FZD4 479A->G (Y58C)
-
FZD4_000182
obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Zhang 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
capture panel of the genes related to congenital cataract and retinal diseases
retinal disease
FamB_II:1
PubMed: Zhang 2010
daughter
F
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.173A>G
r.(?)
p.(Tyr58Cys)
Paternal (confirmed)
-
pathogenic
g.86665955T>C
g.86954913T>C
FZD4 479A->G (Y58C)
-
FZD4_000182
obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous
PubMed: Zhang 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
capture panel of the genes related to congenital cataract and retinal diseases
retinal disease
FamB_II:2
PubMed: Zhang 2010
daughter
F
-
-
-
-
-
-
-
1
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