Global Variome shared LOVD
EYS (eyes shut homolog (Drosophila))
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Rob W.J. Collin
View all genes
View EYS gene homepage
View graphs about the EYS gene database
Create a new gene entry
View all transcripts
View all transcripts of gene EYS
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene EYS
View all variants in gene EYS
Full data view for gene EYS
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene EYS
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene EYS
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene EYS
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Full data view for gene EYS
This database is one of the
"Eye disease"
gene variant databases
. When using this database, please refer to
Messchaert et al. 2018
.
The variants shown are described using the NM_001142800.1 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
2689 entries on 27 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
-
c.5928‐2A>G
r.spl
p.?
Both (homozygous)
-
pathogenic
g.65098735T>C
g.64388842T>C
-
-
EYS_000158
-
PubMed: Khan 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
105-gene panel
retinal disease
32452
PubMed: Khan 2017
see paper
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
_1_1i
c.-92617_-448+26879del
r.0?
p.0?
Parent #2
-
pathogenic (recessive)
g.66390149_66509197del
g.65680256_65799304del
-
-
EYS_000940
-
PubMed: Wen 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
RP
MEP_970
PubMed: Wen 2023
2-generation family, 1 affected, unaffected parents
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
?/.
_1_1i
c.-12233_-447-18280del
r.?
p.?
Parent #2
ACMG
VUS
g.66368069_66428817del
g.65658176_65718924del
-
-
EYS_000886
-
PubMed: Reurink 2023
,
Journal: Reurink 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
arRP6
PubMed: Reurink 2023
,
Journal: Reurink 2023
-
-
-
-
-
-
-
-
-
1
Janine Reurink
?/.
1
c.(?_-539-1)_(-448+1_-447-1)del
r.(?)
p.(?)
Unknown
ACMG
VUS
g.?
g.?
deletion of exon 1
-
LAMA2_000000
Heterozygous
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
4
PubMed: Birtel 2018
-
F
-
Germany
-
-
-
-
-
1
LOVD
+/+
1
c.-538_-448del
r.(?)
p.(=)
Paternal (confirmed)
-
pathogenic
g.66417029_66417119del
g.65707136_65707226del
deletion exon 1
-
EYS_000305
-
PubMed: Eisenberger 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
-
PubMed: Eisenberger 2014
-
F
no
Germany
-
-
-
-
-
1
Rob W.J. Collin
+?/.
-
c.(?_-538)_(862+1_863-1)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.?
g.?
EYS, variant 1: c.9299_9302del/p.T3100Kfs*26, variant 2 :Deletion exon 1-5
-
LAMA2_000000
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
Sanger sequencing
retinal disease
584
PubMed: Weisschuh 2020
Filing key number: 211, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-538)_(862+1_863-1)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.?
g.?
EYS, variant 1: c.9299_9302del/p.T3100Kfs*26, variant 2 :Deletion exon 1-5
-
LAMA2_000000
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET3 targeted sequencing panel - see paper
retinal disease
585
PubMed: Weisschuh 2020
Filing key number: 211, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
_1_10i
c.(?_-538)_(1599+1_1600-1)del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.(66045040_66053930)_(66417118_?)del
-
deletion 10 initial exons
-
EYS_000013
-
PubMed: de Castro-Miró 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
Whole blood
-
retinal disease
68ORG1
PubMed: de Castro-Miró 2016
-
F
no
Argentina
-
-
-
-
-
1
Marta de Castro-Miró
-/.
-
c.-500A>G
r.(?)
p.(=)
Unknown
-
benign
g.66417080T>C
g.65707187T>C
-
-
EYS_000393
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.-462G>C
r.(?)
p.?
Both (homozygous)
-
VUS
g.66417042C>G
g.65707149C>G
-
-
EYS_000307
Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message.
PubMed: Barragán 2010
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Barragán 2010
-
M
yes
Spain
Spanish
-
-
-
-
1
Rob W.J. Collin
?/?
1
c.-459C>T
r.(?)
p.(=)
Unknown
-
VUS
g.66417039G>A
g.65707146G>A
c.-459C>T
-
EYS_000306
Authors classified it as unlikely pathogenic; unknown variant 2nd allele
PubMed: Gonzalez-del Pozo 2011
-
-
Germline
-
-
-
-
-
DNA
arraySEQ
-
-
retinal disease
-
PubMed: Gonzalez-del Pozo 2011
-
?
?
Spain
Spanish
-
-
-
-
1
Rob W.J. Collin
?/?
1
c.-459C>T
r.(?)
p.(=)
Unknown
-
VUS
g.66417039G>A
g.65707146G>A
p.?
-
EYS_000306
-
PubMed: Pierrottet 2014
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Pierrottet 2014
-
F
?
Italy
north
-
-
-
-
1
Rob W.J. Collin
-?/.
1
c.-459C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.66417039G>A
-
c.-459C>T
-
EYS_000306
-
PubMed: González-del Pozo-2011
-
-
Germline
-
20/200 controls
-
-
-
DNA
arraySEQ, MLPA
-
-
retinal disease
-
PubMed: González-del Pozo-2011
-
-
-
-
Spanish
-
-
-
-
1
LOVD
?/.
1
c.-459C>T
r.(=)
p.(=)
Unknown
-
VUS
g.66417039G>A
-
c.-459C>T
-
EYS_000306
-
PubMed: Colombo-2020
-
rs144371265
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
F
no
-
-
-
-
-
-
1
LOVD
?/?
1i
c.-448+5G>A
r.(?)
p.?
Paternal (confirmed)
-
VUS
g.66417023C>T
g.65707130C>T
splice
-
EYS_000304
-
PubMed: Eisenberger 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
-
PubMed: Eisenberger 2014
index patient
M
no
Germany
-
-
-
-
-
1
Rob W.J. Collin
?/?
1i
c.-448+5G>A
r.(?)
p.?
Paternal (confirmed)
-
VUS
g.66417023C>T
g.65707130C>T
splice
-
EYS_000304
-
PubMed: Eisenberger 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
-
PubMed: Eisenberger 2014
sibling of patient 93
F
no
Germany
-
-
-
-
-
1
Rob W.J. Collin
?/.
-
c.-448+5G>A
r.spl
p.?
Parent #1
ACMG
VUS
g.66417023C>T
g.65707130C>T
-
-
EYS_000304
-
PubMed: Hitti-Malin 2022
,
Journal: Hitti-Malin 2022
-
-
Germline
-
-
-
-
-
DNA
MIPsm
-
smMIPs 105 iMD/AMD genes
retinal disease
070682
PubMed: Hitti-Malin 2022
,
Journal: Hitti-Malin 2022
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
-?/.
1i
c.-448+12341_-448+17982del
r.(?)
p.(=)
Unknown
-
likely benign
g.66399046_66404687del
g.65689153_65694794del
-
-
EYS_000851
-
PubMed: Sano 2022
-
-
Germline
-
0.31 in house
-
-
-
DNA
SEQ, SEQ-ON
-
-
RP
-
PubMed: Sano 2022
-
-
-
Japan
-
-
-
-
-
10
Johan den Dunnen
-?/.
-
c.-447-9018A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.66358803T>C
g.65648910T>C
EYS(NM_001142800.1):c.-447-9018A>G
-
EYS_000377
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-414G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.66349752C>T
-
-
-
EYS_000863
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
2
c.-349G>T
r.(?)
p.(=)
Unknown
-
VUS
g.66349687C>A
g.65639794C>A
-
-
EYS_000303
unknown variant 2nd allele
PubMed: Barragán 2010
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Barragán 2010
-
?
?
Spain
Spanish
-
-
-
-
1
Rob W.J. Collin
-?/.
-
c.-333+12351T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.66337320A>G
g.65627427A>G
EYS(NM_001142800.1):c.-333+12351T>C
-
EYS_000376
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
2i
c.-332-69291_-332-68968del
r.(?)
p.(=)
Unknown
-
likely benign
g.66274854_66275177del
g.65564961_65565284del
-
-
EYS_000855
-
PubMed: Sano 2022
-
-
Germline
-
0.80 in house
-
-
-
DNA
SEQ, SEQ-ON
-
-
RP
-
PubMed: Sano 2022
-
-
-
Japan
-
-
-
-
-
15
Johan den Dunnen
-?/.
2i
c.-332-56145_-332-54151del
r.(?)
p.(=)
Unknown
-
likely benign
g.66260037_66262031del
g.65550144_65552138del
-
-
EYS_000850
-
PubMed: Sano 2022
-
-
Germline
-
0.81 in house
-
-
-
DNA
SEQ, SEQ-ON
-
-
RP
-
PubMed: Sano 2022
-
-
-
Japan
-
-
-
-
-
15
Johan den Dunnen
+?/.
-
c.-332-12833_748+569del
r.0?
p.0?
Unknown
ACMG
likely pathogenic (recessive)
g.66203993_66218725del
g.65494100_65508832del
-
-
EYS_000922
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
SRP-1067
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/+
2i_4i
c.(-333+1_-332-1)_(748+1_749-1)del
r.?
p.?
Unknown
-
pathogenic
g.(66200601_66204555)_(66205887_66349670)del
-
c.-340-?_748+?del
-
EYS_000042
-
PubMed: Pieras 2011
-
-
Germline
-
-
-
-
-
DNA
arraySNP, PCR, SEQ
-
-
retinal disease
-
PubMed: Audo 2010
-
F
?
Greece
Greek
-
-
-
-
1
Rob W.J. Collin
?/.
2i_4i
c.(-333+1_-332-1)_(748+1_749-1)dup
r.?
p.?
Unknown
-
VUS
g.(66200601_66204555)_(66205887_66349670)dup
-
340-?_748+?dup
-
EYS_000032
-
PubMed: Pieras 2011
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
retinal disease
-
PubMed: Pieras 2011
-
?
?
(Spain);(France)
-
-
-
-
-
1
Rob W.J. Collin
+/+
1i_4i
c.(-448+1_-332-1)_(748+1_749-1)del
r.(?)
p.?
Unknown
-
pathogenic
g.(66200601_66204555)_(66205887_66417027)del
-
-
-
EYS_000024
-
PubMed: Messchaert 2018
,
Journal: Messchaert 2018
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Littink 2010
-
M
no
-
Curaçao
-
-
-
-
1
Rob W.J. Collin
?/.
-
c.-207A>G
r.(=)
p.(=)
Parent #1
-
VUS
g.66205761T>C
g.65495868T>C
-
-
EYS_000564
7 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs370140172
Germline
-
7/2794 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
7
Mohammed Faruq
?/?
3
c.-204G>A
r.(?)
p.(=)
Unknown
-
VUS
g.66205758C>T
g.65495865C>T
-
-
EYS_000302
unknown variant 2nd allele
PubMed: Barragán 2010
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Barragán 2010
-
?
?
Spain
Spanish
-
-
-
-
1
Rob W.J. Collin
+?/.
-
c.(?_-1)_(862+1_863-1)del
r.?
p.?
Unknown
-
pathogenic
g.(66115261_66200486)_(66205304_?)del
g.(65405368_65490593)_(65495411_?)del
1-?_862+?del
-
EYS_000688
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
RP
IR_GS_0006
-
-
F
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
?/.
4i1i_43_
c.(8071+1_8072-1)_*616{2}
r.?
p.?
Parent #2
-
VUS
g.(?_64429876)_(64436574_64472353)dup
g.(?_63719980)_(63726681_63762460)dup
dup ex42-43
-
EYS_000901
-
PubMed: Moon 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
Pat15
PubMed: Moon 2021
-
-
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.-538_-332-5442{0}
r.0?
p.0?
Unknown
ACMG
likely pathogenic
g.66211328_67272783del
-
-
-
EYS_000690
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
RP
IR_GH_0097
-
-
F
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
+?/.
_1_12i
c.-538_2023+10906{0}
r.0?
p.0?
Unknown
ACMG
likely pathogenic (recessive)
g.65994850_67582755delinsT
g.65284957_66872862delinsT
-
-
EYS_000902
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
SRP-1067
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
?/.
_1_5i
c.-538_862+10652{1}inv
r.?
p.?
Unknown
ACMG
VUS
g.66189835_67841160inv
g.65479942_67131267inv
-
-
EYS_000905
ACMG PM2; no variant 2nd chromosome
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
SRP-1299
PubMed: Weisschuh 2024
patient
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.-538_863-23447{0}
r.0?
p.0?
Parent #1
-
likely pathogenic
g.66138707_66790596del
-
del ex1-4, chr6:66138707-66790596del
-
EYS_000619
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
268
PubMed: Stone 2017
family, 2 affected
M
-
(United States)
-
-
-
-
-
2
LOVD
+?/.
-
c.?
r.(?)
p.(Gly3131Ala)
Unknown
ACMG
likely pathogenic
g.64430535C>G
-
NM_001292009.1:c.9392G>C
-
EYS_000494
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.?
r.(?)
p.(Val3117Leufs*28)
Unknown
ACMG
pathogenic
g.64430569_64430578del
-
NM_001292009.1:c.9349_9358del
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
2 IRD families
-
-
Israel
-
-
-
-
-
2
Global Variome, with Curator vacancy
+/.
-
c.?
r.(?)
p.(Asn3096Leufs*2)
Unknown
ACMG
pathogenic
g.64430632_64430641del
-
NM_001292009.1:c.9286_9295del
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
4/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
4 IRD families
-
-
Israel
-
-
-
-
-
4
Global Variome, with Curator vacancy
+?/.
-
c.?
r.(?)
p.(Val2892Ala)
Unknown
ACMG
likely pathogenic
g.64431252G>A
-
NM_001292009.1:c.8675T>C
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.?
r.(?)
p.(Leu2773_Asn2775delinsTyr)
Unknown
ACMG
likely pathogenic
g.64431604_64431609del
-
NM_001292009.1:c.8318_8323del
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.?
r.(?)
p.(Gln2744Argfs*18)
Unknown
ACMG
pathogenic
g.64436414del
-
NM_001292009.1:c.8231del
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.?
r.(?)
p.(Gln2744*)
Unknown
ACMG
pathogenic
g.64436415G>A
-
NM_001292009.1:c.8230C>T
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.?
r.(?)
p.(His2740Tyrfs*27)
Unknown
ACMG
pathogenic
g.64436426_64436427del
-
NM_001292009.1:c.8218_8219del
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
6/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
6 IRD families
-
-
Israel
-
-
-
-
-
6
Global Variome, with Curator vacancy
+/.
-
c.?
r.(?)
p.(Asn2723Metfs*39)
Unknown
ACMG
pathogenic
g.64436477del
-
NM_001292009.1:c.8168del
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.?
r.(?)
p.(Asn2723Metfs*39)
Unknown
ACMG
pathogenic
g.64436477del
-
NM_001292009.1:c.8168del
-
EYS_000397
-
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
2 IRD families
-
-
Israel
-
-
-
-
-
2
Global Variome, with Curator vacancy
+/.
-
c.?
r.?
p.(Lys251_Gly2766del)
Unknown
ACMG
pathogenic
g.?
-
NM_001292009.1:c.749_8296del
-
LAMA2_000000
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.?
r.?
p.?
Parent #2
-
likely pathogenic
g.?
-
del ex32
-
LAMA2_000000
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
196
PubMed: Stone 2017
family, 3 affected
M
-
(United States)
-
-
-
-
-
3
LOVD
+/.
14i_19i
c.?
r.?
p.?
Parent #1
-
pathogenic
g.?
-
del ex15-19
-
LAMA2_000000
no variant 2nd chromosome
PubMed: Bravo-Gil 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
68-gene panel
retinal disease
Pat57
PubMed: Bravo-Gil 2017
-
-
-
Spain
-
-
-
-
-
1
Nereida Bravo Gil
+/.
31i_33i
c.?
r.?
p.?
Parent #1
-
pathogenic
g.?
-
del ex32-33
-
LAMA2_000000
no variant 2nd chromosome
PubMed: Bravo-Gil 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
68-gene panel
retinal disease
Pat19
PubMed: Bravo-Gil 2017
-
-
-
Spain
-
-
-
-
-
1
Nereida Bravo Gil
+?/.
-
c.?
r.?
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
del ex15-22
-
LAMA2_000000
-
PubMed: Weisschuh 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
ARRP28
PubMed: Weisschuh 2016
family
-
-
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.?
r.?
p.?
Unknown
-
VUS
g.?
-
NM_001142800.1:c.1849G>A (V617I)
-
LAMA2_000000
-
PubMed: Xu 2014
-
-
Germline
-
1/314 case chromosomes
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
RP285
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Both (homozygous)
-
likely pathogenic
g.?
-
exon 14 del
-
LAMA2_000000
-
PubMed: Wang 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
13
PubMed: Wang 2014
-
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Unknown
-
likely pathogenic
g.64756070_64780034del
-
chr6:g.64756070_64780034del
-
EYS_000397
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
W000239
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.(Tyr2555fs)
Unknown
-
likely pathogenic
g.?
g.?
EYS p.(Tyr2555fs)
-
LAMA2_000000
only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous
PubMed: Koyanagi 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
N-224
PubMed: Koyanagi 2020
-
M
-
Japan
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.(Asp498fs)
Unknown
-
likely pathogenic
g.?
g.?
EYS p.(Asp498fs)
-
LAMA2_000000
only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous
PubMed: Koyanagi 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
N-303
PubMed: Koyanagi 2020
-
F
-
Japan
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.(Gln3101fs)
Both (homozygous)
-
likely pathogenic
g.?
g.?
EYS p.(Gln3101fs)
-
LAMA2_000000
only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); homozygous
PubMed: Koyanagi 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
OPH-552
PubMed: Koyanagi 2020
-
F
-
Japan
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Parent #2
-
likely pathogenic
g.?
g.?
EYS c.4402_4403ins
-
LAMA2_000000
error in annotation - no inserted nucleotides written; compound heterozygous
PubMed: Hirashima 2017
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
10 (EYS-RP group)
PubMed: Hirashima 2017
-
F
-
-
-
-
-
-
-
1
LOVD
?/.
22_26
c.?
r.spl?
p.?
Unknown
-
VUS
g.65301508_65523398del
-
c.3317-?_4251+?
-
EYS_000397
-
PubMed: Mucciolo 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, SEQ
peripheral blood leukocytes
-
retinal disease
P6
PubMed: Mucciolo_2018
-
-
-
Italy
Italian
-
-
-
-
1
LOVD
+?/.
-
c.14C>A
r.(?)
p.(Ser5*)
Maternal (confirmed)
-
likely pathogenic
g.66205290G>T
g.65495397G>T
NM_001142800, c.14C>A, p.Ser5Ter
-
EYS_000689
-
PubMed: Ezquerra-Inchausti 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
II:1
PubMed: Ezquerra-Inchausti 2018
Family RP106, II:1
?
no
Spain
-
-
-
-
-
1
LOVD
-?/.
-
c.16A>G
r.(?)
p.(Ile6Val)
Unknown
-
likely benign
g.66205288T>C
g.65495395T>C
EYS(NM_001292009.2):c.16A>G (p.I6V)
-
EYS_000375
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.19G>A
r.(?)
p.(Val7Ile)
Unknown
-
likely benign
g.66205285C>T
g.65495392C>T
EYS(NM_001292009.1):c.19G>A (p.V7I)
-
EYS_000549
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.32dup
r.(?)
p.(Met12Aspfs*14)
Paternal (confirmed)
-
pathogenic
g.66205272dup
g.65495379dup
-
-
EYS_000006
-
PubMed: Abu-Safieh-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
1
Leen Abu Safieh
+/.
4
c.32dup
r.(?)
p.(Met12Aspfs*14)
Parent #2
-
pathogenic
g.66205272dup
g.65495379dup
-
-
EYS_000006
-
PubMed: Abu-Safieh-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Abu-Safieh-2013
-
-
-
-
-
-
-
-
-
1
Leen Abu Safieh
+/+
4
c.32dup
r.(?)
p.(Met12Aspfs*14)
Both (homozygous)
-
pathogenic
g.66205272dup
g.65495379dup
p.(Met12Aspfs*14)
-
EYS_000006
-
PubMed: Abu-Safieh 2013
-
-
Germline
-
ExAC: 3, 120918, 0, 0.00002481
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
-
PubMed: Abu-Safieh 2013
-
-
-
-
-
-
-
-
-
1
Rob W.J. Collin
+/+
4
c.32dup
r.(?)
p.(Met12Aspfs*14)
Unknown
-
pathogenic
g.66205272dup
g.65495379dup
p.L11fsX15
-
EYS_000006
-
PubMed: Glöckle 2014
-
-
Germline
-
ExAC: 3, 120918, 0, 0.00002481
-
-
-
DNA
SEQ-NG-S
-
-
retinal disease
-
PubMed: Glöckle 2014
-
?
?
-
white
-
-
-
-
1
Rob W.J. Collin
+/+
4
c.32dup
r.(?)
p.(Met12Aspfs*14)
Both (homozygous)
-
pathogenic
g.66205272dup
g.65495379dup
p.(Met12Aspfs*14)
-
EYS_000006
-
PubMed: Messchaert 2018
,
Journal: Messchaert 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Messchaert 2018
,
Journal: Messchaert 2018
-
?
-
Netherlands
Dutch
-
-
-
-
1
Rob W.J. Collin
+/.
-
c.32dup
r.(?)
p.(Met12AspfsTer14)
Unknown
-
pathogenic
g.66205272dup
g.65495379dup
EYS(NM_001142800.1):c.32dupT (p.M12Dfs*14)
-
EYS_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.32dup
r.(?)
p.(Met12Aspfs*14)
Parent #1
-
likely pathogenic
g.66205272dup
g.65495379dup
EYS, variant 1: c.32dup/p.M12Dfs*14, variant 2: c.6571+1G>A/p.?
-
EYS_000006
error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET1 targeted sequencing panel - see paper
retinal disease
479
PubMed: Weisschuh 2020
Filing key number: 157, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
4
c.32dup
r.(?)
p.(Met12Aspfs*14)
Unknown
-
pathogenic (recessive)
g.66205272dup
-
c.32dup
-
EYS_000006
-
PubMed: Colombo-2020
-
rs779372264
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Colombo-2020
-
M
no
-
-
-
-
-
-
1
LOVD
+?/.
4
c.32dup
r.(?)
p.(Met12Aspfs*14)
Both (homozygous)
-
likely pathogenic (recessive)
g.66205272dup
-
c.32dupT
-
EYS_000006
-
PubMed: McGuigan 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, SEQ
-
-
retinal disease
P6
PubMed: McGuigan 2017
-
M
-
-
East Indian/Iranian
-
-
-
-
1
LOVD
?/.
4
c.32dup
r.(?)
p.(Met12Aspfs*14)
Unknown
-
VUS
g.66205272dup
-
c.32dup (p. Met12Aspfs*14)
-
EYS_000006
-
PubMed: Mucciolo 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, SEQ
peripheral blood leukocytes
-
retinal disease
P4
PubMed: Mucciolo_2018
-
-
-
Italy
Italian
-
-
-
-
1
LOVD
+/.
-
c.32dup
r.(?)
p.(Met12Aspfs*14)
Parent #1
-
pathogenic (recessive)
g.66205272dup
g.65495379dup
32_33insT
-
EYS_000006
-
PubMed: Jimenez 2022
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
Pat4
PubMed: Jimenez 2022
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
?/?
4
c.35T>C
r.(?)
p.(Met12Thr)
Unknown
-
VUS
g.66205269A>G
g.65495376A>G
p.M12T
-
EYS_000301
-
PubMed: Arai 2015
-
-
Germline
-
ExAC: 9, 120958, 0, 0.00007441
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Arai 2015
-
?
?
Japan
Japanese
-
-
-
-
1
Rob W.J. Collin
+/.
-
c.35T>C
r.(?)
p.(Met12Thr)
Unknown
-
pathogenic
g.66205269A>G
g.65495376A>G
-
-
EYS_000301
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs755947942
Germline
-
2/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
2
Yoshito Koyanagi
?/.
-
c.35T>C
r.(?)
p.(Met12Thr)
Unknown
-
VUS
g.66205269A>G
g.65495376A>G
-
-
EYS_000301
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.35T>C
r.(?)
p.(Met12Thr)
Both (homozygous)
-
likely pathogenic
g.66205269A>G
g.65495376A>G
-
-
EYS_000301
-
PubMed: Bravo-Gil 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
68-gene panel
retinal disease
Pat56
PubMed: Bravo-Gil 2017
patient
-
-
Spain
-
-
-
-
-
1
Nereida Bravo Gil
+?/.
-
c.35T>C
r.(?)
p.(Met12Thr)
Unknown
-
likely pathogenic
g.66205269A>G
g.65495376A>G
EYS p.(Met12Thr)
-
EYS_000301
only protein changes written in the publication; Mutalyzer Back Translator used for coding DNA variant (impossible in case of frameshift mutations); compound heterozygous
PubMed: Koyanagi 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
OPH-293
PubMed: Koyanagi 2020
-
F
-
Japan
-
-
-
-
-
1
LOVD
?/.
4
c.35T>C
r.(?)
p.(Met12Thr)
Parent #1
-
VUS
g.66205269A>G
-
c.35T>C
-
EYS_000301
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
?/.
-
c.57A>G
r.(?)
p.(Ile19Met)
Unknown
-
VUS
g.66205247T>C
g.65495354T>C
EYS(NM_001292009.2):c.57A>G (p.I19M)
-
EYS_000548
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/+
4
c.67del
r.(?)
p.(Thr23Hisfs*19)
Unknown
-
pathogenic
g.66205241del
g.65495348del
p.Thr23Hisfs*19
-
EYS_000300
-
PubMed: Eisenberger 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
-
PubMed: Eisenberger 2014
inheritance familial, autosomal recessive/X-linked
M
no
Germany
-
-
-
-
-
1
Rob W.J. Collin
+?/.
-
c.67dup
r.(?)
p.(Thr23Asnfs*3)
Parent #1
-
likely pathogenic
g.66205241dup
g.65495348dup
EYS, variant 1: c.67dup/p.T23Nfs*3, variant 2: c.67dup/p.T23Nfs*3
-
EYS_000765
error in annotation, variant matches transcript NM_001142800.1 and not the indicated NM_001292009.1, solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
922
PubMed: Weisschuh 2020
Filing key number: 394, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
?/?
4
c.77G>A
r.(?)
p.(Arg26Gln)
Unknown
-
VUS
g.66205227C>T
g.65495334C>T
p.R26Q
-
EYS_000299
unknown variant 2nd allele
PubMed: Hosono 2012
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Hosono 2012
-
-
?
Japan
Japanese
-
-
-
-
1
Rob W.J. Collin
+/.
-
c.77G>A
r.(?)
p.(Arg26Gln)
Unknown
-
pathogenic
g.66205227C>T
g.65495334C>T
-
-
EYS_000299
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs528733427
Germline
-
2/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
2
Yoshito Koyanagi
+/+
4
c.78_79dup
r.(?)
p.(Gln27Argfs*16)
Unknown
-
pathogenic
g.66205225_66205226dup
g.65495332_65495333dup
p.Q27Rfsx16
-
EYS_000298
unknown variant 2nd allele
PubMed: Barragán 2010
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Barragán 2010
-
?
?
Spain
Spanish
-
-
-
-
1
Rob W.J. Collin
?/.
-
c.91G>A
r.(?)
p.(Glu31Lys)
Unknown
-
VUS
g.66205213C>T
g.65495320C>T
-
-
EYS_000670
-
PubMed: Wang 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
48
PubMed: Wang 2014
-
M
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.95G>T
r.(?)
p.(Trp32Leu)
Parent #2
-
pathogenic (recessive)
g.66205209C>A
g.65495316C>A
9036delT (W32L)
-
EYS_000937
-
PubMed: Jimenez 2022
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
Pat4
PubMed: Jimenez 2022
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
4
c.103C>T
r.(?)
p.(Gln35*)
Unknown
-
pathogenic
g.66205201G>A
g.65495308G>A
p.(Gln35*)
-
EYS_000297
-
PubMed: Haer-Wigman 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Haer-Wigman 2017
-
?
no
Netherlands
Dutch
-
-
-
-
1
Rob W.J. Collin
+/.
-
c.103C>T
r.(?)
p.(Gln35Ter)
Unknown
-
pathogenic
g.66205201G>A
g.65495308G>A
EYS(NM_001292009.2):c.103C>T (p.Q35*)
-
EYS_000297
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.103C>T
r.(?)
p.(Gln35Ter)
Unknown
-
pathogenic
g.66205201G>A
g.65495308G>A
EYS(NM_001292009.2):c.103C>T (p.Q35*)
-
EYS_000297
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.113C>G
r.(?)
p.(Ser38*)
Parent #1
-
likely pathogenic
g.66205191G>C
-
c.113C>G
-
EYS_000885
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
+/.
-
c.116_117del
r.(?)
p.(Tyr39Cysfs*26)
Unknown
-
pathogenic
g.66205189_66205190del
g.65495296_65495297del
-
-
EYS_000490
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
?/?
4
c.141A>T
r.(?)
p.(Glu47Asp)
Unknown
-
VUS
g.66205163T>A
g.65495270T>A
p.E47D
-
EYS_000296
-
PubMed: Katagiri 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
-
PubMed: Katagiri 2014
index patient
M
no
Japan
Japanese
-
-
-
-
1
Rob W.J. Collin
?/?
4
c.141A>T
r.(?)
p.(Glu47Asp)
Unknown
-
VUS
g.66205163T>A
g.65495270T>A
p.E47D
-
EYS_000296
-
PubMed: Arai 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Arai 2015
-
?
?
Japan
Japanese
-
-
-
-
1
Rob W.J. Collin
+/.
-
c.141A>T
r.(?)
p.(Glu47Asp)
Unknown
-
pathogenic
g.66205163T>A
g.65495270T>A
-
-
EYS_000296
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs267601099
Germline
-
3/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
3
Yoshito Koyanagi
+/+
4
c.162C>A
r.(?)
p.(Tyr54*)
Unknown
-
pathogenic
g.66205142G>T
g.65495249G>T
p.Tyr54*
-
EYS_000295
-
PubMed: Eisenberger 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
retinal disease
-
PubMed: Eisenberger 2014
inheritance familial, autosomal recessive/X-linked
M
no
Germany
-
-
-
-
-
1
Rob W.J. Collin
+?/.
-
c.179del
r.(?)
p.(Leu60TrpfsTer3)
Unknown
-
likely pathogenic
g.66205129del
g.65495236del
-
-
EYS_000644
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
10DG1649
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.205_206insAAACTGGCAT
r.(?)
p.(Ser69*)
Unknown
-
likely pathogenic
g.66205099_66205100insTGCCAGTTTA
g.65495206_65495207insTGCCAGTTTA
EYS p.(Ser69fs)
-
EYS_000766
only protein changes written in the publication; mutation coding DNA extrapolated from other publications and databases; compound heterozygous
PubMed: Koyanagi 2020
-
-
Unknown
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
OPH-51
PubMed: Koyanagi 2020
-
F
-
Japan
-
-
-
-
-
1
LOVD
+/.
-
c.206del
r.(?)
p.(Ser69*)
Unknown
-
pathogenic
g.66205098del
g.65495205del
-
-
EYS_000489
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
-
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
+?/.
-
c.216delA
r.spl
p.(Ala73LeufsTer12)
Parent #2
-
likely pathogenic (recessive)
g.66205089del
g.65495196del
-
-
EYS_000947
-
PubMed: Hussain 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WGS
retinal disease
MEP-123
PubMed: Hussain 2023
2-generation family, 1 affected, unaffected parents
F
-
United States
white
-
-
-
-
1
Johan den Dunnen
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators