Global Variome shared LOVD
BEST1 (bestrophin 1)
LOVD v.3.0 Build 30b [
Current LOVD status
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Curators:
Heidi L. Schulz
and
Claire-Marie Dhaenens
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_004183.3 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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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2242 entries on 23 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
+?/.
4
430A>G
r.(?)
p.(Ser144Gly)
Maternal (confirmed)
-
likely pathogenic (recessive)
g.61723372A>G
g.61955900A>G
BEST1 430A>G, p.S144G
-
BEST1_000331
heterozygous
PubMed: Lacassagne 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
III-1
PubMed: Lacassagne 2011
-
M
-
France
-
-
-
-
-
1
LOVD
+?/.
8
904G>C
r.(?)
p.(Asp302His)
Unknown
-
likely pathogenic
g.61727006G>C
g.61959534G>C
VMD2 904G>C, D302H
-
BEST1_000287
heterozygous
PubMed: Marchant 2002
-
-
Unknown
?
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
C (individual)
PubMed: Marchant 2002
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
8
909T>A
r.(?)
p.(Asp303Glu)
Unknown
-
likely pathogenic
g.61727011T>A
g.61959539T>A
VMD2 909T>A, D303E
-
BEST1_000290
heterozygous
PubMed: Marchant 2002
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
A (family)
PubMed: Marchant 2002
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
8
923A>G
r.(?)
p.(Asn308Ser)
Unknown
-
likely pathogenic
g.61727025A>G
g.61959553A>G
VMD2 923A>G, N308S
-
BEST1_000296
heterozygous
PubMed: Marchant 2002
-
-
Germline
yes
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
B (family)
PubMed: Marchant 2002
-
?
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.-37+1G>T
r.spl?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.61717900G>T
-
11:61717900G>T ENST00000449131.2:c.-29+1G>T
-
BEST1_000116
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G007693
PubMed: Carss 2017
-
M
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+/.
-
c.-37+1G>T
r.spl
p.(?)
Both (homozygous)
-
pathogenic
g.61717900G>T
g.61950428G>T
BEST1 c.-29+1G>T,
-
BEST1_000116
homozygous, different transcript, NM_001139443.1:c.-29+1G>T
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G007693
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
1i
c.-37+1G>T
r.spl?
p.?
Parent #1
-
likely pathogenic
g.61717900G>T
-
c.-37+1G>T
-
BEST1_000116
-
PubMed: Maggi_2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
1i
c.-37+1G>T
r.spl?
p.?
Parent #1
-
likely pathogenic
g.61717900G>T
-
c.-37+1G>T
-
BEST1_000116
-
PubMed: Maggi_2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
-
c.-37+1G>T
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.61717900G>T
g.61950428G>T
BEST1 c.-37+1G>T, inactivation of splice donor site of exon 1
-
BEST1_000116
homozygous
PubMed: Boon 2013
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
10
PubMed: Boon 2013
-
F
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.-37+5G>A
r.spl?
p.(?)
Parent #2
-
likely pathogenic
g.61717904G>A
g.61950432G>A
BEST1 c.388C>A; c.-37+5G>A
-
BEST1_000216
compound heterozygous
PubMed: Zanolli 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
targeted sequencing
retinal disease
12
PubMed: Zanolli 2020
individual ID not present in paper, consecutive numbers given
?
-
Chile
-
-
-
-
-
1
LOVD
+?/.
-
c.-37+5G>A
r.(?)
p.0?
Both (homozygous)
-
likely pathogenic
g.61719312G>A
g.61951840G>A
BEST1 c.-29+5G>A, p.0?
-
BEST1_000216
different transcript used; NM_001139443.1(BEST1):c.-29+5G>A; no transcript detected; homozygous
PubMed: Fung 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
5
PubMed: Fung 2015
family 4, individual 5, proband
F
yes
-
-
-
-
-
-
1
LOVD
+?/.
1i
c.-37+5G>A
r.(?)
p.(?)
Unknown
-
likely pathogenic
g.61717904G>A
g.61950432G>A
BEST1 c.-37+5G>A, splice site
-
BEST1_000216
heterozygous
PubMed: Birtel 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
-
retrospective study
retinal disease
11
PubMed: Birtel 2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
_1i_2i
c.(?_-36-15)_(152+1_153-1)del
r.0?
p.0?
Parent #1
-
likely pathogenic
g.(?_61719278)_(61719431_61722578)del
g.(?_61951806)_(61951959_61955106)del
g.61719228_61719480del
-
BEST1_000243
-
PubMed: Ellingford 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
retinal disease
15022236
PubMed: Ellingford 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
1i_2i
c.(-37+1_-36-1)_(152+1_153-1)del
r.(?)
p.0?
Both (homozygous)
-
likely pathogenic
g.(61717900_61719242)_(61719431_61722578)del
g.(61950428_61951770)_(61951959_61955106)del
del ex2 1-?_152+?del, no protein
-
BEST1_000448
-
PubMed: Boon 2013
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
8
PubMed: Boon 2013
-
F
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.-29+1G>T
r.spl
p.(?)
Both (homozygous)
-
likely pathogenic
g.61719251C>T
g.61951779C>T
BEST1 c.-29+1G>T, splicing
-
BEST1_000468
homozygous
PubMed: Casalino 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
Whole Exome Sequencing
retinal disease
3
PubMed: Casalino 2020
-
M
-
-
Asian
-
-
-
-
1
LOVD
+?/.
-
c.-29+1G>T
r.spl
p.(?)
Unknown
-
likely pathogenic
g.61719251C>T
g.61951779C>T
BEST1 c.-29+1G>T, Splicing
-
BEST1_000468
heterozygous
PubMed: Casalino 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
Whole Exome Sequencing
retinal disease
4
PubMed: Casalino 2020
-
M
-
-
white
-
-
-
-
1
LOVD
+?/.
10_11_
c.1265_*341{0}
r.?
p.(His422fs)
Unknown
-
likely pathogenic
g.61729891_61733239del
g.61962419_61965767del
BEST1 deletion of 9348 bases (61729891e61733239), H422fsX431
-
BEST1_000444
9348 bp deletion
PubMed: Dalvin 2016
-
-
De novo
-
-
-
-
-
DNA
SEQ-NG
blood
panel of 131 retinal dystrophy genes
retinal disease
patient
PubMed: Dalvin 2016
2-generation family, 1 affected, unaffected non-carrier parents
M
-
Denmark
-
-
-
-
-
1
LOVD
-?/.
-
c.?
r.?
p.?
Parent #1
-
likely benign
g.?
-
23C>T
-
BEST1_000000
-
PubMed: Zhuk 2006
-
-
Germline
-
1/11 cases
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Zhuk 2006
Sister and 2 paternal cousins with macular degeneration
F
-
-
white
-
-
-
-
1
Julia Lopez
?/.
-
c.?
r.?
p.?
Unknown
-
VUS
g.?
-
1060C>T (F354W)
-
BEST1_000000
-
PubMed: Xu 2014
-
-
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP289
PubMed: Xu 2014
patient
F
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.(?)
Unknown
-
likely pathogenic
g.?
g.?
R41S
-
BEST1_000000
nucleotide variant not written
PubMed: Renner 2005
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Retrospective study
retinal disease
1911 (G03-2001)
PubMed: Renner 2005
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.0?
Unknown
-
likely pathogenic
g.?
g.?
BEST1 exons 1-2 deletion
-
DRD4_000002
heterozygous
PubMed: Casalino 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ
blood
Whole Exome Sequencing
retinal disease
15
PubMed: Casalino 2020
-
M
-
-
white
-
-
-
-
1
LOVD
+?/.
2
c.1A>G
r.(?)
p.(Met1?)
Paternal (inferred)
-
likely pathogenic
g.61719279A>G
g.61951807A>G
BEST1 c.1 A > G, p.M1V
-
BEST1_000450
homozygous
PubMed: Shi 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
?
PubMed: Shi 2020
-
F
yes
China
-
-
-
-
-
1
LOVD
+?/.
-
c.4A>G
r.(?)
p.(Thr2Ala)
Unknown
-
likely pathogenic
g.61719282A>G
g.61951810A>G
BEST1 c.4A>G, p.(Thr2Ala)
-
BEST1_000341
heterozygous
PubMed: Katagiri 2015
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
B.I-1
PubMed: Katagiri 2015
Family B, individual I-1 - proband
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
-
c.4A>G
r.(?)
p.(Thr2Ala)
Paternal (inferred)
-
likely pathogenic
g.61719282A>G
g.61951810A>G
BEST1 c.4A>G, p.(Thr2Ala)
-
BEST1_000341
heterozygous
PubMed: Katagiri 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
C.II-3
PubMed: Katagiri 2015
Family C, individual II-3 - proband
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
-
c.5C>A
r.(?)
p.(Thr2Asn)
Unknown
-
likely pathogenic
g.61719283C>A
g.61951811C>A
BEST1 Thr2Asn (c.5C->A)
-
BEST1_000298
heterozygous
PubMed: Wong 2009
-
-
Unknown
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
E:I-1
PubMed: Wong 2009
Family E, individual I-1 (proband)
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.5C>A
r.(?)
p.(Thr2Asn)
Paternal (confirmed)
-
likely pathogenic
g.61719283C>A
g.61951811C>A
BEST1 Thr2Asn (c.5C->A)
-
BEST1_000298
heterozygous
PubMed: Wong 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
E:II-3
PubMed: Wong 2009
Family E, individual II-3 (proband's son)
F
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.5C>G
r.(?)
p.(Thr2Ser)
Unknown
-
likely pathogenic
g.61719283C>G
g.61951811C>G
BEST1 c.5C.G [p.Thr2Ser]
-
BEST1_000381
heterozygous
PubMed: Guo 2018
-
-
Unknown
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F_II:1
PubMed: Guo 2018
Family F, individual II:1
M
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.5C>G
r.(?)
p.(Thr2Ser)
Unknown
ACMG
pathogenic
g.61719283C>G
g.61951811C>G
BEST1 c.5C>G, p.(Thr2Ser)
-
BEST1_000381
heterozygous
PubMed: Gao 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F19-1
PubMed: Gao 2019
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.5C>G
r.(?)
p.(Thr2Ser)
Paternal (confirmed)
ACMG
pathogenic
g.61719283C>G
g.61951811C>G
BEST1 c.5C>G, p.(Thr2Ser)
-
BEST1_000381
heterozygous
PubMed: Gao 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F33-1
PubMed: Gao 2019
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.5C>G
r.(?)
p.(Thr2Ser)
Paternal (confirmed)
ACMG
pathogenic
g.61719283C>G
g.61951811C>G
BEST1 c.5C>G, p.(Thr2Ser)
-
BEST1_000381
heterozygous
PubMed: Gao 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F33-2
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.5C>G
r.(?)
p.(Thr2Ser)
Unknown
ACMG
pathogenic
g.61719283C>G
g.61951811C>G
BEST1 c.5C>G, p.(Thr2Ser)
-
BEST1_000381
heterozygous
PubMed: Gao 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F33-3
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.5C>G
r.(?)
p.(Thr2Ser)
Unknown
ACMG
pathogenic
g.61719283C>G
g.61951811C>G
BEST1 c.5C>G, p.(Thr2Ser)
-
BEST1_000381
heterozygous
PubMed: Gao 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F37-1
PubMed: Gao 2019
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.5C>G
r.(?)
p.(Thr2Ser)
Unknown
ACMG
pathogenic
g.61719283C>G
g.61951811C>G
BEST1 c.5C>G, p.(Thr2Ser)
-
BEST1_000381
heterozygous
PubMed: Gao 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F37-2
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.5C>G
r.(?)
p.(Thr2Ser)
Unknown
ACMG
pathogenic
g.61719283C>G
g.61951811C>G
BEST1 c.5C>G, p.(Thr2Ser)
-
BEST1_000381
heterozygous
PubMed: Gao 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
F5-1
PubMed: Gao 2019
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.5C>T
r.(?)
p.(Thr2Ile)
Unknown
ACMG
likely pathogenic
g.61719283C>T
g.61951811C>T
BEST1 c.5C>T, p.(Thr2Ile)
-
BEST1_000382
heterozygous
PubMed: Frecer 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
P1
PubMed: Frecer 2019
-
M
-
Italy
-
-
-
-
-
1
LOVD
+?/.
-
c.8T>A
r.(?)
p.(Ile3Asn)
Maternal (inferred)
-
likely pathogenic
g.61719286T>A
g.61951814T>A
BEST1 c.8T>A (p.I3N)
-
BEST1_000354
heterozygous
PubMed: Matson 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
Case 1
PubMed: Matson 2015
Family 1, individual II:1
M
-
United States
black
-
-
-
-
1
LOVD
+?/.
-
c.8T>C
r.(?)
p.(Ile3Thr)
Unknown
-
likely pathogenic
g.61719286T>C
g.61951814T>C
BEST1 c.8T>C, p.(Ile3Thr)
-
BEST1_000299
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
L-III.1
PubMed: Boon 2009
Family L, individual III.1
F
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
2
c.10A>G
r.(?)
p.(Thr4Ala)
Paternal (inferred)
-
likely pathogenic
g.61719288A>G
g.61951816A>G
BEST1 A>G10, T4A
-
BEST1_000300
heterozygous
PubMed: Querques 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CT07 (FamilyCT IV)
PubMed: Querques 2009
-
F
-
France
-
-
-
-
-
1
LOVD
+?/.
2
c.10A>G
r.(?)
p.(Thr4Ala)
Paternal (inferred)
-
likely pathogenic
g.61719288A>G
g.61951816A>G
BEST1 A>G10, T4A
-
BEST1_000300
heterozygous
PubMed: Querques 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
CT08 (FamilyCT IV)
PubMed: Querques 2009
-
F
-
France
-
-
-
-
-
1
LOVD
+?/.
2
c.10A>G
r.(?)
p.(Thr4Ala)
Unknown
-
likely pathogenic
g.61719288A>G
g.61951816A>G
BEST1 p.Thr4Ala
-
BEST1_000300
no nucleotide annotation, writen, extrapolated from protein change; heterozygous
PubMed: Querques 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
8_Case20
PubMed: Querques 2014
family 8, individual: Case20
F
-
France
-
-
-
-
-
1
LOVD
+?/.
2
c.10A>G
r.(?)
p.(Thr4Ala)
Unknown
-
likely pathogenic
g.61719288A>G
g.61951816A>G
BEST1 p.Thr4Ala
-
BEST1_000300
no nucleotide annotation, writen, extrapolated from protein change; heterozygous
PubMed: Querques 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
8_Case21
PubMed: Querques 2014
family 8, individual: Case21
F
-
France
-
-
-
-
-
1
LOVD
+?/.
-
c.11C>T
r.(?)
p.(Thr4Ile)
Unknown
-
likely pathogenic
g.61719289C>T
g.61951817C>T
Allele 1 c.11C>T (p.Thr4IIe), Allele 2 Wildtype
-
BEST1_000207
heterozygous
PubMed: Khan 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
-
PubMed: Khan 2019
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.11C>T
r.(?)
p.(Thr4Ile)
Unknown
ACMG
likely pathogenic
g.61719289C>T
g.61951817C>T
BEST1:NM_004183 c.C11T, p.T4I
-
BEST1_000207
heterozygous, individual unsolved, causality of variants unknown
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-466
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.11C>T
r.(?)
p.(Thr4Ile)
Parent #1
-
likely pathogenic
g.61719289C>T
g.61951817C>T
BEST1, variant 1: c.11C>T/p.T4I
-
BEST1_000207
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
288
PubMed: Weisschuh 2020
Filing key number: 95, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.11C>T
r.(?)
p.(Thr4Ile)
Unknown
-
likely pathogenic
g.61719289C>T
g.61951817C>T
BEST1 c.11C>T, p.T4I
-
BEST1_000207
heterozygous
PubMed: Tian 2014
-
-
Unknown
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
C_I:1
PubMed: Tian 2014
family C, individual I:1
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.11C>T
r.(?)
p.(Thr4Ile)
Paternal (confirmed)
-
likely pathogenic
g.61719289C>T
g.61951817C>T
BEST1 c.11C>T, p.T4I
-
BEST1_000207
heterozygous
PubMed: Tian 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
C_II:1
PubMed: Tian 2014
family C, individual II:1
F
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.11C>T
r.(?)
p.(Thr4Ile)
Unknown
ACMG
likely pathogenic
g.61719289C>T
g.61951817C>T
BEST1 c.11C>T, p.(Thr4Ile)
-
BEST1_000207
heterozygous
PubMed: Frecer 2019
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
P2
PubMed: Frecer 2019
-
F
-
Italy
-
-
-
-
-
1
LOVD
+/.
2
c.11C>T
r.(?)
p.(Thr4Ile)
Unknown
ACMG
likely pathogenic
g.61719289C>T
g.61951817C>T
BEST1 c.11C>T, p.(Thr4Ile)
-
BEST1_000207
heterozygous
PubMed: Frecer 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
P3
PubMed: Frecer 2019
-
F
-
Italy
-
-
-
-
-
1
LOVD
+?/.
2
c.15C>A
r.(?)
p.(Tyr5*)
Unknown
-
likely pathogenic (recessive)
g.61719293C>A
g.61951821C>A
BEST1 c.15C>A, p.Y5X
-
BEST1_000328
heterozygous
PubMed: Lacassagne 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
II-1
PubMed: Lacassagne 2011
-
M
-
France
-
-
-
-
-
1
LOVD
+?/.
2
c.15C>A
r.(?)
p.(Tyr5*)
Paternal (confirmed)
-
likely pathogenic (recessive)
g.61719293C>A
g.61951821C>A
BEST1 c.15C>A c., p.Y5X
-
BEST1_000328
heterozygous
PubMed: Lacassagne 2011
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
III-1
PubMed: Lacassagne 2011
-
M
-
France
-
-
-
-
-
1
LOVD
+/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
pathogenic
g.61719294A>C
g.61951822A>C
BEST1(NM_004183.3):c.16A>C (p.T6P)
-
BEST1_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
pathogenic
g.61719294A>C
-
BEST1(NM_004183.3):c.16A>C (p.T6P)
-
BEST1_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
-
c.16A>C
-
BEST1_000004
-
PubMed: Booij-2011
-
-
Germline
-
-
-
-
-
DNA
arraySEQ
Blood
-
retinal disease
-
PubMed: Booij-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx6-1
PubMed: Petrukhin 1998
family SL76, individual SL76-2
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx6-2
PubMed: Petrukhin 1998
family SL76, individual SL76-3
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx6-3
PubMed: Petrukhin 1998
family SL76, individual SL76-4
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx8-1
PubMed: Petrukhin 1998
family SL76, individual SL76-5
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx8-2
PubMed: Petrukhin 1998
family SL76, individual SL76-6
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx8-3
PubMed: Petrukhin 1998
family SL76, individual SL76-7
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx8-4
PubMed: Petrukhin 1998
family SG1, individual SG1-1
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx8-5
PubMed: Petrukhin 1998
family SG1, individual SG1-2
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx8-6
PubMed: Petrukhin 1998
family SG1, individual SG1-3
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx8-7
PubMed: Petrukhin 1998
family SG1, individual SG1-4
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A120C, T6P
-
BEST1_000004
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
Nx8-8
PubMed: Petrukhin 1998
family SG1, individual SG1-4
?
-
-
Dutch
-
-
-
-
1
LOVD
+?/.
2
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 A16C, T6P
-
BEST1_000004
heterozygous
PubMed: Kramer 2000
-
-
Unknown
?
-
-
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
A-21
PubMed: Kramer 2000
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
VMD2 c.16A>C, p.Thr6Pro
-
BEST1_000004
heterozygous
PubMed: Boon 2007
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
3
PubMed: Boon 2007
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
VMD2 c.16A>C, p.Thr6Pro
-
BEST1_000004
heterozygous
PubMed: Boon 2007
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
9
PubMed: Boon 2007
-
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
A-II.2
PubMed: Boon 2009
Family A, individual II.2
F
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
A-III.1
PubMed: Boon 2009
Family A, individual III.1
F
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
B-III.1
PubMed: Boon 2009
Family B, individual III.1
F
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
C-II.1
PubMed: Boon 2009
Family C, individual II.1
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
C-III.1
PubMed: Boon 2009
Family C, individual III.1
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
D-III.4
PubMed: Boon 2009
Family D, individual III.4
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
D-IV.3
PubMed: Boon 2009
Family D, individual IV.3
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
E-III.1
PubMed: Boon 2009
Family E, individual III.1
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.16A>C
r.(?)
p.(Thr6Pro)
Unknown
-
likely pathogenic
g.61719294A>C
g.61951822A>C
BEST1 c.16A>C, p.(Thr6Pro)
-
BEST1_000004
heterozygous
PubMed: Boon 2009
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
F-III.5
PubMed: Boon 2009
Family F, individual III.5
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
2
c.16A>G
r.(?)
p.(Thr6Ala)
Unknown
-
likely pathogenic
g.61719294A>G
g.61951822A>G
VMD2 gene missense mutation in exon 2 (Thr6Ala [ACA>GCA])
-
BEST1_000301
no nucleotide annotation, writen, extrapolated from protein change; heterozygous
PubMed: Apushkin 2006
-
-
De novo
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
?
PubMed: Apushkin 2006
-
M
-
United States
English, German, and Polish ancestry
-
-
-
-
1
LOVD
+/.
-
c.17C>G
r.(?)
p.(Thr6Arg)
Unknown
-
pathogenic
g.61719295C>G
g.61951823C>G
BEST1(NM_004183.3):c.17C>G (p.T6R)
-
BEST1_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.17C>G
r.(?)
p.(Thr6Arg)
Unknown
-
likely pathogenic
g.61719295C>G
g.61951823C>G
BEST1 ACA-AGA, Thr6Arg
-
BEST1_000084
heterozygous
PubMed: Lotery 2000
-
-
Unknown
?
-
-
-
-
DNA
SSCA, SEQ
-
-
retinal disease
?
PubMed: Lotery 2000
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.17C>G
r.(?)
p.(Thr6Arg)
Unknown
-
likely pathogenic
g.61719295C>G
g.61951823C>G
BEST1 c.17C>G, p.T6R
-
BEST1_000084
heterozygous
PubMed: Tian 2014
-
-
Unknown
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
010379
PubMed: Tian 2014
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
2
c.17C>T
r.(?)
p.(Thr6Ile)
Parent #1
-
pathogenic (dominant)
g.61719295C>T
g.61951823C>T
-
-
BEST1_000121
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Pat154
PubMed: Birtel 2018
family
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.17C>T
r.(?)
p.(Thr6Ile)
Parent #1
-
likely pathogenic
g.61719295C>T
g.61951823C>T
BEST1, variant 1: c.17C>T/p.T6I
-
BEST1_000121
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
retinal disease
547
PubMed: Weisschuh 2020
Filing key number: 194, macular dystrophy, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
2
c.17C>T
r.(?)
p.(Thr6Ile)
Unknown
-
likely pathogenic
g.61719295C>T
g.61951823C>T
BEST1 c.17C>T, p.Thr6Ile
-
BEST1_000121
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
103
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
-
c.20G>A
r.(?)
p.(Ser7Asn)
Unknown
-
likely pathogenic
g.61719298G>A
g.61951826G>A
BEST1 c.20G>A, p.(Ser7Asn)
-
BEST1_000342
heterozygous
PubMed: Katagiri 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
A.I-1
PubMed: Katagiri 2015
Family A, individual I-1 - father of proband
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
-
c.20G>A
r.(?)
p.(Ser7Asn)
Paternal (confirmed)
-
likely pathogenic
g.61719298G>A
g.61951826G>A
BEST1 c.20G>A, p.(Ser7Asn)
-
BEST1_000342
heterozygous
PubMed: Katagiri 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
A.II-1
PubMed: Katagiri 2015
Family A, individual II-1 - proband
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
-
c.20G>A
r.(?)
p.(Ser7Asn)
Unknown
-
likely pathogenic
g.61719298G>A
g.61951826G>A
BEST1 c.20G>A, p.S7N
-
BEST1_000342
heterozygous
PubMed: Tian 2014
-
-
Unknown
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
010356
PubMed: Tian 2014
-
M
-
China
-
-
-
-
-
1
LOVD
+/.
-
c.20G>A
r.(?)
p.(Ser7Asn)
Maternal (confirmed)
-
pathogenic
g.61719298G>A
g.61951826G>A
-
-
BEST1_000342
variant in unaffected mother
PubMed: Fan 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Pat4
PubMed: Fan 2020
2-generation family, 1 affected
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i
c.20G>A
r.(?)
p.(Ser7Asn)
Parent #1
-
pathogenic (!)
g.61719298G>A
g.61951826G>A
-
-
BEST1_000342
incomplete penetrance
PubMed: Liu 2023
rs199508634
rs199508634
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
CTRCT
Fam129Pat343
PubMed: Liu 2023
family, 1 affected
F
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
2i
c.20G>A
r.(?)
p.(Ser7Asn)
Parent #1
-
pathogenic (!)
g.61719298G>A
g.61951826G>A
-
-
BEST1_000342
incomplete penetrance
PubMed: Liu 2023
rs199508634
rs199508634
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
792 gene panel
Healthy/Control
Fam129Pat345
PubMed: Liu 2023
relative
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.25G>A
r.(?)
p.(Val9Met)
Unknown
-
likely pathogenic
g.61719303G>A
g.61951831G>A
-
-
BEST1_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.25G>A
r.(?)
p.(Val9Met)
Parent #1
-
pathogenic (dominant)
g.61719303G>A
g.61951831G>A
-
-
BEST1_000005
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Pat153
PubMed: Birtel 2018
family
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.25G>A
r.(?)
p.(Val9Met)
Unknown
ACMG
likely pathogenic
g.61719303G>A
g.61951831G>A
BEST1 c.[25G>A];[25=], V1: c.25G>A, (p.Val9Met)
-
BEST1_000005
heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F140
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
2
c.25G>A
r.(?)
p.(Val9Met)
Unknown
-
likely pathogenic
g.61719303G>A
g.61951831G>A
BEST1 GTG->ATG, V9M
-
BEST1_000005
heterozygous
PubMed: Marquardt 1998
-
-
Germline
yes
-
-
-
-
DNA
STR, SEQ
-
-
retinal disease
O
PubMed: Marquardt 1998
Family O
?
-
Germany
-
-
-
-
-
1
LOVD
+?/.
2
c.25G>A
r.(?)
p.(Val9Met)
Unknown
-
likely pathogenic
g.61719303G>A
g.61951831G>A
BEST1 G25A, V9M
-
BEST1_000005
heterozygous
PubMed: Kramer 2000
-
-
Unknown
?
-
-
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
B-20
PubMed: Kramer 2000
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.25G>A
r.(?)
p.(Val9Met)
Unknown
-
likely pathogenic
g.61719303G>A
g.61951831G>A
VMD2 V9M
-
BEST1_000005
nucleotide variant not written, extrapolated from protein change and previous publications; heterozygous
PubMed: Renner 2005
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Retrospective study
retinal disease
823 (PAT14)
PubMed: Renner 2005
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.25G>A
r.(?)
p.(Val9Met)
Unknown
-
likely pathogenic
g.61719303G>A
g.61951831G>A
BEST1 c.25G>A, p.(Val9Met)
-
BEST1_000005
heterozygous
PubMed: Cohn 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
FAM-26.1
PubMed: Cohn 2010
family FAM-26, 1 individual
?
-
Australia
-
-
-
-
-
1
LOVD
+?/.
-
c.25G>A
r.(?)
p.(Val9Met)
Parent #1
-
likely pathogenic
g.61719303G>A
g.61951831G>A
BEST1 c.[25G>A];[25=]; p.(Val9Met)
-
BEST1_000005
heterozygous
PubMed: Chen 2021
-
-
Germline
yes
Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F140
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
-
c.25G>Y
r.(?)
p.?
Unknown
-
likely pathogenic
g.61719303G>Y
-
p.V9L
-
BEST1_000183
-
PubMed: Meunier 2011
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Meunier 2011
-
F
no
-
-
-
-
-
-
1
LOVD
?/.
2
c.26T>C
r.(?)
p.(Val9Ala)
Unknown
-
VUS
g.61719304T>C
g.61951832T>C
BEST1 T130C, V9A
-
BEST1_000244
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
SL3-1
PubMed: Petrukhin 1998
family SL3, individual SL3-1
?
-
-
Dutch
-
-
-
-
1
LOVD
?/.
2
c.26T>C
r.(?)
p.(Val9Ala)
Unknown
-
VUS
g.61719304T>C
g.61951832T>C
BEST1 T130C, V9A
-
BEST1_000244
heterozygous
PubMed: Petrukhin 1998
-
-
Germline
yes
0/50
-
-
-
DNA
STR, SEQ
-
-
retinal disease
SL3-2
PubMed: Petrukhin 1998
family SL3, individual SL3-2
?
-
-
Dutch
-
-
-
-
1
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