Global Variome shared LOVD
CRX (cone-rod homeobox)
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_000554.4 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
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
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
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=""
Text
="p.0"
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!=""
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!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
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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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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.(-109-?)_(*3358+?)del
r.?
p.(0)
Both (homozygous)
-
pathogenic
g.?
-
c.(-109-?)_(*3358+?)del
-
NPHS1_000138
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
LCA
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
+?/.
-
c.-35-1771_101-707del
r.0?
p.0?
Parent #1
ACMG
likely pathogenic
g.48335895_48338793del
g.47832638_47835536del
-
-
CRX_000133
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CD-633
PubMed: Weisschuh 2024
patient
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
1i_2i
c.(-36+1_-1)_(100+1_101-1)del
r.0?
p.0?
Parent #1
ACMG
likely pathogenic
g.(48325268_48337700)_(48337801_48339499)del
-
-
-
CRX_000137
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
071795
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
?/.
-
c.(?_-1)_(*1_?)dup
r.(?)
p.(?)
Unknown
ACMG
VUS
g.?
g.?
CRX c.(?_-1)_(*1_?)dup, CACNA1F c.2237A>C, p.(Asn746Thr)
-
NPHS1_000138
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
399
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Parent #1
-
pathogenic (dominant)
g.?
-
AF024711:238A>C, GAG?GCG CRX Glu80Ala
-
NPHS1_000138
-
PubMed: Sohocki 2001
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
retinal disease
-
PubMed: Sohocki 2001
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+/.
-
c.?
r.(?)
p.?
Parent #1
-
pathogenic (dominant)
g.?
-
AF024711:238A>C, GAG?GCG CRX Glu80Ala
-
NPHS1_000138
-
PubMed: Sohocki 2001
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
retinal disease
-
PubMed: Sohocki 2001
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+/.
-
c.?
r.?
p.?
Unknown
-
pathogenic
g.?
-
del ex3-4
-
NPHS1_000138
-
PubMed: Jones 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
FAM3-10396
PubMed: Jones 2017
relative
M
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Unknown
-
pathogenic
g.?
-
del ex3-4
-
NPHS1_000138
-
PubMed: Jones 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
FAM3-10398
PubMed: Jones 2017
relative
F
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Unknown
-
pathogenic
g.?
-
del ex3-4
-
NPHS1_000138
-
PubMed: Jones 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
FAM3-5250
PubMed: Jones 2017
5-generation family, 11 affected (5F, 6M)
F
-
United States
-
-
-
-
-
11
LOVD
+/.
-
c.?
r.?
p.?
Unknown
-
pathogenic
g.?
-
del ex3-4
-
NPHS1_000138
-
PubMed: Jones 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
retinal disease
FAM3-10397
PubMed: Jones 2017
relative
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Unknown
-
likely pathogenic
g.?
-
del ex3-4
-
NPHS1_000138
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
292
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
258X
-
NPHS1_000138
-
PubMed: Shanks 2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, PCR
-
-
retinal disease
-
PubMed: Shanks-2013
novel. 3 affected siblings for mutation.
-
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.?
r.spl
p.(?)
Unknown
-
VUS
g.48337416_48343898del
-
CRX chr19:48337416_48343898del
-
NPHS1_000138
het deletion of all coding exons (2-4), gene can lead to dominant RP or ar LCA, unsolved
PubMed: Zampaglione 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, PCRq
blood
-
retinal disease
OGI656_001332
PubMed: Zampaglione 2020
-
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Maternal (confirmed)
ACMG
likely pathogenic (dominant)
g.48309247_48350581del
-
-
-
NPHS1_000138
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
ADRP-287
PubMed: Weisschuh 2024
family, 2 affected
F
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.?
r.?
p.?
Unknown
ACMG
likely pathogenic (dominant)
g.48340644_48406926del
-
-
-
NPHS1_000138
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CD-621
PubMed: Weisschuh 2024
family, 2 affected
F
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.?
r.?
p.?
Unknown
ACMG
likely pathogenic (dominant)
g.48340644_48406926del
-
-
-
NPHS1_000138
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
MDS-427
PubMed: Weisschuh 2024
family, 2 affected
F
-
Germany
-
-
-
-
-
2
Johan den Dunnen
?/.
-
c.8C>T
r.(?)
p.(Ala3Val)
Unknown
-
VUS
g.48337708C>T
g.47834451C>T
-
-
CRX_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.8C>T
r.(?)
p.(Ala3Val)
Unknown
-
VUS
g.48337708C>T
g.47834451C>T
-
-
CRX_000009
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs762715327
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.24dup
r.(?)
p.(Pro9Alafs*62)
Parent #1
-
likely pathogenic
g.48337724dup
g.47834467dup
P9ins1bp het CRX
-
CRX_000124
single heterozygous
PubMed: Dharmaraj 2000
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
retinal disease
10
PubMed: Dharmaraj 2000
-
?
no
Canada
American
-
-
-
-
1
LOVD
-?/.
-
c.28C>G
r.(?)
p.(His10Asp)
Unknown
-
likely benign
g.48337728C>G
g.47834471C>G
CRX(NM_000554.5):c.28C>G (p.H10D)
-
CRX_000022
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.28C>G
r.(?)
p.(His10Asp)
Unknown
ACMG
VUS
g.48337728C>G
g.47834471C>G
CRX c.28C>G, p.(His10Asp)
-
CRX_000022
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
401
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
-?/.
1
c.28C>T
r.(?)
p.(His10Tyr)
Parent #1
-
likely benign
g.48337728C>T
-
AF024711:28C>T (CAC?GAC) His10Asp
-
CRX_000039
-
PubMed: Sohocki 2001
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.37G>C
r.(?)
p.(Val13Leu)
Unknown
-
likely benign
g.48337737G>C
g.47834480G>C
CRX(NM_000554.4):c.37G>C (p.(Val13Leu))
-
CRX_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.100+1G>C
r.spl
p.?
Unknown
-
VUS
g.48337801G>C
g.47834544G>C
-
-
CRX_000062
-
PubMed: Ellingford 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
105-gene panel
retinal disease
13009064
PubMed: Ellingford 2016
familial segregation analysis requested
-
-
-
-
-
-
-
-
1
LOVD
+/.
p.(?)
c.100+2T>C
r.spl
p.?
Unknown
ACMG
pathogenic
g.48337802T>C
g.47834545T>C
c.100+2T>C, p.?
-
CRX_000098
heterozygous
PubMed: Nasser 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
105 retinal dystrophy-associated genes
retinal disease
3
PubMed: Nasser 2019
-
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.100+2T>C
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.48337802T>C
g.47834545T>C
CRX, variant 1: c.100+2T>C/p.?
-
CRX_000098
solved, heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET7 targeted sequencing panel - see paper
retinal disease
779
PubMed: Weisschuh 2020
Filing key number: 302, Stargardt Disease, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
2i_4_
c.101-582_*121592del
r.0?
p.0?
Unknown
ACMG
pathogenic
g.48338919_48464817del
g.47835662_47961560del
-
-
CRX_000004
-
PubMed: de Castro-Miró 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
Whole blood
-
retinal disease
10NCE1
PubMed: de Castro-Miró 2016
-
M
no
Spain
-
-
-
-
-
1
Marta de Castro-Miró
+?/.
_3_4_
c.101-284_*2305del
r.spl
p.(?)
Unknown
-
likely pathogenic
g.48339216_48345529del
g.47835959_47842272del
-
-
CRX_000084
-
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
DNA
MLPA
-
+arrayCGH, SEQ-NG
retinal disease
RP-1092
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
_3_4_
c.101-155_*4131del
r.spl
p.(?)
Unknown
-
likely pathogenic
g.48339345_48347355del
g.47836088_47844098del
-
-
CRX_000085
-
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
DNA
MLPA
-
+arrayCGH, SEQ-NG
retinal disease
RP-1192
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.101-1G>A
r.spl?
p.?
Unknown
-
pathogenic
g.48339499G>A
g.47836242G>A
CRX(NM_000554.5):c.101-1G>A
-
CRX_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.101-1G>A
r.spl
p.?
Parent #1
-
pathogenic (dominant)
g.48339499G>A
g.47836242G>A
-
-
CRX_000005
-
-
-
-
De novo
yes
-
-
-
-
DNA
SEQ-NG
blood
Targeted gene panel
LCA
-
-
-
M
-
-
-
31y
-
-
-
1
Jinu Han
+/.
-
c.101-1G>A
r.spl
p.?
Parent #1
ACMG
pathogenic (recessive)
g.48339499G>A
g.47836242G>A
c.101-1G>A:p.?
-
CRX_000005
compound heterozygous
PubMed: Surl 2020
,
PubMed: Moon 2021
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing
retinal disease
11;Pat13
PubMed: Surl 2020
,
PubMed: Moon 2021
-
M
-
Korea
-
-
-
-
-
1
LOVD
+?/.
-
c.(100+1_101-1)_(*1097_?)del
Unable to predict
p.?
Unknown
-
likely pathogenic
g.?
-
del ex3-4: c.(100+1_101-1)_(*1097_?)del
-
NPHS1_000138
-
PubMed: Bravo-Gil 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
68-gene panel
retinal disease
Pat33
PubMed: Bravo-Gil 2017
patient
-
-
Spain
-
-
-
-
-
1
Nereida Bravo Gil
+/.
-
c.(100+1_101-1)_(*1097_?)del
r.?
p.?
Parent #1
-
pathogenic
g.?
-
(100+1_101-1)_(*1097_?)del
-
NPHS1_000138
-
PubMed: Bravo-Gil 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
64-gene panel
retinal disease
522
PubMed: Bravo-Gil 2016
see paper
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.118C>T
r.(?)
p.(Arg40Trp)
Unknown
-
likely pathogenic
g.48339517C>T
g.47836260C>T
-
-
CRX_000048
-
PubMed: Maeda 2018
-
rs749738655
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
39-gene panel
retinal disease
Pat32
PubMed: Maeda 2018
family
M
-
Japan
-
-
-
-
-
1
LOVD
+?/.
1
c.118C>T
r.(?)
p.(Arg40Trp)
Unknown
-
likely pathogenic
g.48339517C>T
-
c.118C>T
-
CRX_000048
-
PubMed: Maggi_2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
3
c.118C>T
r.(?)
p.(Arg40Trp)
Maternal (confirmed)
-
likely pathogenic
g.48339517C>T
g.47836260C>T
CRX c.118C>T, p.R40W
-
CRX_000048
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 1 (1-III:1)
PubMed: Fujinami-Yokokawa 2020
Family 1, Patient 1 (1-III:1), TMC-001- 001, NISO-NTMC072-KA072
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.118C>T
r.(?)
p.(Arg40Trp)
Unknown
-
likely pathogenic
g.48339517C>T
g.47836260C>T
CRX c.118C>T, p.R40W
-
CRX_000048
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 2 (1-II:3)
PubMed: Fujinami-Yokokawa 2020
Family 1, Patient 2 (1-II:3), TMC-001- 002, NISO-NTMC072-KA205
F
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.118C>T
r.(?)
p.(Arg40Trp)
Maternal (confirmed)
-
likely pathogenic
g.48339517C>T
g.47836260C>T
CRX c.118C>T, p.R40W
-
CRX_000048
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 3 (2-II:1)
PubMed: Fujinami-Yokokawa 2020
Family 2, Patient 3 (2-II:1), JU-001-001, JIKEI-079JIKEI-JU0743
F
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.118C>T
r.(?)
p.(Arg40Trp)
Unknown
-
likely pathogenic
g.48339517C>T
g.47836260C>T
CRX c.118C>T, p.R40W
-
CRX_000048
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 4 (2-I:2)
PubMed: Fujinami-Yokokawa 2020
Family 2, Patient 4 (2-I:2), JU-001-002, JIKEI-079JIKEI-JU1738
F
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.118C>T
r.(?)
p.(Arg40Trp)
Unknown
-
likely pathogenic
g.48339517C>T
g.47836260C>T
CRX c.118C>T, p.R40W
-
CRX_000048
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 5 (3-II:2)
PubMed: Fujinami-Yokokawa 2020
Family 3, Patient 5 (3-II:2), KDU-001- 001, KINKI-034-1104
F
-
Japan
Asian
-
-
-
-
1
LOVD
+/.
3
c.118C>T
r.(?)
p.(Arg40Trp)
Parent #1
ACMG
pathogenic
g.48339517C>T
g.47836260C>T
-
-
CRX_000048
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
072278
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+/.
-
c.119G>A
r.(?)
p.(Arg40Gln)
Unknown
-
pathogenic (dominant)
g.48339518G>A
-
19:48339518G>A ENST00000221996.7:c.119G>A (Arg40Gln)
-
CRX_000045
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
W000147
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+?/.
-
c.119G>A
r.(?)
p.(Arg40Gln)
Unknown
-
likely pathogenic
g.48339518G>A
g.47836261G>A
CRX c.119G>A, p.Arg40Gln
-
CRX_000045
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
W000147
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
likely pathogenic
g.48339520C>T
g.47836263C>T
CRX(NM_000554.6):c.121C>T (p.R41W)
-
CRX_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
pathogenic
g.48339520C>T
g.47836263C>T
CRX(NM_000554.6):c.121C>T (p.R41W)
-
CRX_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
pathogenic
g.48339520C>T
g.47836263C>T
-
-
CRX_000006
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs104894672
Germline
-
4/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
4
Yoshito Koyanagi
+?/.
3
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
likely pathogenic
g.48339520C>T
g.47836263C>T
-
-
CRX_000006
-
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
rs104894672
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
123 gene panel
retinal disease
CIC3750
PubMed: Boulanger-Scemama 2015
,
PubMed: Boulanger-Scemama 2019
-
-
-
France
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
likely pathogenic
g.48339520C>T
g.47836263C>T
-
-
CRX_000006
-
PubMed: Ellingford 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
105-gene panel
retinal disease
13010981
PubMed: Ellingford 2016
familial segregation analysis requested
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.121C>T
r.(?)
p.(Arg41Trp)
Parent #1
-
likely pathogenic (dominant)
g.48339520C>T
g.47836263C>T
-
-
CRX_000006
-
PubMed: Huang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
QT139
PubMed: Huang 2016
-
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.121C>T
r.(?)
p.(Arg41Trp)
Parent #1
-
likely pathogenic
g.48339520C>T
g.47836263C>T
-
-
CRX_000006
-
PubMed: Oishi 2016
-
rs104894672
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
K6343
PubMed: Oishi 2016
3-generation family, 1 affected
M
-
Japan
-
-
-
-
-
1
LOVD
+?/.
-
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
ACMG
VUS
g.48339520C>T
-
-
-
CRX_000006
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG-I
-
-
OCMD
IR_GS_0153
-
-
F
-
Korea, South (Republic)
-
-
-
-
-
1
Jinu Han
?/.
1
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
VUS
g.48339520C>T
-
p.R41W
-
CRX_000006
-
PubMed: Matsui 2015
-
-
Germline
-
-
-
-
-
DNA
PE
-
-
retinal disease
-
PubMed: Matsui 2015
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
3
c.121C>T
r.(?)
p.(Arg41Trp)
Paternal (inferred)
-
likely pathogenic
g.48339520C>T
g.47836263C>T
CRX c.121C>T, p.R41W
-
CRX_000006
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 6 (4-III:2)
PubMed: Fujinami-Yokokawa 2020
Family 4, Patient 6 (4-III:2), NU-001-001, NAGOYA-Nagoya085-Nagoya0085
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.121C>T
r.(?)
p.(Arg41Trp)
Paternal (confirmed)
-
likely pathogenic
g.48339520C>T
g.47836263C>T
CRX c.121C>T, p.R41W
-
CRX_000006
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 7 (5-II:1)
PubMed: Fujinami-Yokokawa 2020
Family 5, Patient 7 (5-II:1), JU-002-001, JIKEI-237JIKEI-JU1557
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
likely pathogenic
g.48339520C>T
g.47836263C>T
CRX c.121C>T, p.R41W
-
CRX_000006
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 8 (5-I:1)
PubMed: Fujinami-Yokokawa 2020
Family 5, Patient 8 (5-I:1), JU-002-002, JIKEI-237JIKEI-JU1558
M
-
Japan
Asian
-
-
-
-
1
LOVD
+/.
1
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
pathogenic
g.48339520C>T
-
c.121C>T
-
CRX_000006
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
F
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
pathogenic
g.48339520C>T
-
c.121C>T
-
CRX_000006
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
1
c.121C>T
r.(?)
p.(Arg41Trp)
Unknown
-
pathogenic
g.48339520C>T
-
c.121C>T
-
CRX_000006
-
PubMed: Panneman 2023
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
RP-LCA smMIPs sequencing
RP
-
PubMed: Panneman 2023
-
M
-
-
-
-
-
-
-
1
Daan Panneman
+/.
3
c.121C>T
r.(?)
p.(Arg41Trp)
Parent #1
ACMG
pathogenic
g.48339520C>T
g.47836263C>T
-
-
CRX_000006
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
070977
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+/.
3
c.121C>T
r.(?)
p.(Arg41Trp)
Parent #1
ACMG
pathogenic
g.48339520C>T
g.47836263C>T
-
-
CRX_000006
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
079861
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+?/.
3
c.122G>A
r.(?)
p.(Arg41Gln)
Parent #2
-
pathogenic (dominant)
g.48339521G>A
g.47836264G>A
-
-
CRX_000030
-
-
-
-
De novo
yes
-
-
-
-
DNA
SEQ-NG
blood
Targeted gene panel
LCA
-
-
-
M
-
-
-
31y
-
-
-
1
Jinu Han
+/.
1
c.122G>A
r.(?)
p.(Arg41Gln)
Parent #1
-
pathogenic
g.48339521G>A
-
122G>A
-
CRX_000030
-
PubMed: Sullivan 2006
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sullivan 2006
1 family
-
-
United States
-
-
-
-
-
5
Julia Lopez
+?/.
3
c.122G>A
r.(?)
p.(Arg41Gln)
Unknown
-
likely pathogenic
g.48339521G>A
g.47836264G>A
-
-
CRX_000030
-
PubMed: Martin-Merida 2018
-
-
Germline
?
1/258
-
-
-
DNA
?
-
various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES
retinal disease
?
PubMed: Martin-Merida 2018
-
-
-
Spain
-
-
-
-
-
1
LOVD
+/.
1
c.122G>A
r.(?)
p.(Arg41Gln)
Unknown
-
pathogenic
g.48339521G>A
-
p.Arg41Gln
-
CRX_000030
-
PubMed: Blanco-Kelly-2012
-
-
Unknown
yes
-
-
-
-
DNA
arraySNP
blood
adRP genotyping microarray
retinal disease
-
PubMed: Blanco-Kelly-2012
-
-
-
Spain
spanish
-
-
-
-
1
LOVD
+?/.
1
c.122G>A
r.(?)
p.(Arg41Gln)
Unknown
-
likely pathogenic
g.48339521G>A
-
c.122G>A
-
CRX_000030
-
PubMed: Eisenberger-2013
-
rs61748436
Germline
-
-
-
-
-
DNA
SEQ-NG-I, SEQ-NG-R, SEQ
blood
-
retinal disease
-
PubMed: Eisenberger-2013
-
M
no
Germany
-
-
-
-
-
1
LOVD
+/.
3
c.122G>A
r.(?)
p.(Arg41Gln)
Unknown
ACMG
pathogenic
g.48339521G>A
g.47836264G>A
c.122G>A, p.Arg41Gln
-
CRX_000030
Heterozygous
PubMed: Birtel 2018
-
rs61748436
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
63
PubMed: Birtel 2018
-
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.122G>A
r.(?)
p.(Arg41Gln)
Parent #2
ACMG
pathogenic (recessive)
g.48339521G>A
g.47836264G>A
-
-
CRX_000030
compound heterozygous
PubMed: Surl 2020
,
PubMed: Moon 2021
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing
retinal disease
11;Pat13
PubMed: Surl 2020
,
PubMed: Moon 2021
-
M
-
Korea
-
-
-
-
-
1
LOVD
+?/.
-
c.122G>A
r.(?)
p.(Arg41Gln)
Both (homozygous)
-
likely pathogenic
g.48339521G>A
g.47836264G>A
CRX c.122G>A
-
CRX_000030
homozygous; heterozygous family members normal phenotype; no protein annotation in paper
PubMed: Chapi 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
IV:4
PubMed: Chapi 2019
family A, proband's brother
M
yes
Iran
-
-
-
-
-
1
LOVD
+?/.
-
c.122G>A
r.(?)
p.(Arg41Gln)
Unknown
ACMG
likely pathogenic (dominant)
g.48339521G>A
g.47836264G>A
-
-
CRX_000030
ACMG PP3, PM2, PP5_STRONG
PubMed: Weisschuh 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CD-419
PubMed: Weisschuh 2024
patient, no family history
F
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.122G>A
r.(?)
p.(Arg41Gln)
Unknown
-
likely pathogenic
g.48339521G>A
-
-
-
CRX_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.122G>C
r.(?)
p.(Arg41Pro)
Parent #1
ACMG
likely pathogenic
g.48339521G>C
g.47836264G>C
-
-
CRX_000127
-
PubMed: Hitti-Malin 2022
,
Journal: Hitti-Malin 2022
-
-
Germline
-
-
-
-
-
DNA
MIPsm
-
smMIPs 105 iMD/AMD genes
retinal disease
070657
PubMed: Hitti-Malin 2022
,
Journal: Hitti-Malin 2022
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+?/.
-
c.122G>C
r.(?)
p.(Arg41Pro)
Parent #1
ACMG
likely pathogenic
g.48339521G>C
g.47836264G>C
-
-
CRX_000127
-
PubMed: Hitti-Malin 2022
,
Journal: Hitti-Malin 2022
-
-
Germline
-
-
-
-
-
DNA
MIPsm
-
smMIPs 105 iMD/AMD genes
retinal disease
070583
PubMed: Hitti-Malin 2022
,
Journal: Hitti-Malin 2022
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
?/.
-
c.122G>C
r.(?)
p.(Arg41Pro)
Unknown
-
VUS
g.48339521G>C
-
-
-
CRX_000127
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.124G>A
r.(?)
p.(Glu42Lys)
Unknown
ACMG
pathogenic
g.48339523G>A
g.47836266G>A
c.124G>A
-
CRX_000086
heterozygous, causative variant
PubMed: Hosono 2018
-
-
Germline
no
-
-
-
-
DNA
SEQ-NG, SEQ
blood
Targeted next-generation sequencing
retinal disease
EYE70
PubMed: Hosono 2018
proband, family EYE70
F
no
Japan
Asian
-
-
-
-
1
LOVD
+/.
1
c.124G>A
r.(?)
p.(Glu42Lys)
Unknown
-
pathogenic
g.48339523G>A
-
124G>A
-
CRX_000086
-
PubMed: li 2011
-
-
Germline
-
1/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
M
no
China
Chinese
-
-
-
-
1
LOVD
+/.
-
c.124G>A
r.(?)
p.(Glu42Lys)
Parent #1
ACMG
pathogenic
g.48339523G>A
g.47836266G>A
CRX NM_000554: g.16821G>A, c.124G>A, p.E42K
-
CRX_000086
-
PubMed: Xu 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
Sanger sequencing
retinal disease
67230
PubMed: Xu 2020
-
?
no
China
-
-
-
-
-
1
LOVD
?/.
-
c.127C>T
r.(?)
p.(Arg43Cys)
Unknown
-
VUS
g.48339526C>T
g.47836269C>T
-
-
CRX_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.127C>T
r.(?)
p.(Arg43Cys)
Parent #1
-
likely pathogenic (dominant)
g.48339526C>T
g.47836269C>T
-
-
CRX_000010
-
PubMed: Huang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
QT1272
PubMed: Huang 2016
-
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.127C>T
r.(?)
p.(Arg43Cys)
Unknown
ACMG
likely pathogenic
g.48339526C>T
g.47836269C>T
CRX c.127C>T, p.(Arg43Cys)
-
CRX_000010
-
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
105
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
1
c.127C>T
r.(?)
p.(Arg43Cys)
Unknown
-
likely pathogenic (recessive)
g.48339526C>T
-
c.127C>T
-
CRX_000010
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.127C>T
r.(?)
p.(Arg43Cys)
Maternal (inferred)
-
likely pathogenic
g.48339526C>T
g.47836269C>T
CRX c.127C>T, p.R43C
-
CRX_000010
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 9 (6-III:1)
PubMed: Fujinami-Yokokawa 2020
Family 6, Patient 9 (6-III:1), KDU-002- 001, KINKI-003-4
F
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.127C>T
r.(?)
p.(Arg43Cys)
Maternal (inferred)
-
likely pathogenic
g.48339526C>T
g.47836269C>T
CRX c.127C>T, p.R43C
-
CRX_000010
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 10 (6-III:2)
PubMed: Fujinami-Yokokawa 2020
Family 6, Patient 10 (6-III:2), KDU-002- 002, KINKI-003-3
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.128G>A
r.(?)
p.(Arg43His)
Paternal (confirmed)
-
likely pathogenic
g.48339527G>A
g.47836270G>A
CRX c.128G>A, p.R43H
-
CRX_000114
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 11 (7-III:3)
PubMed: Fujinami-Yokokawa 2020
Family 7, Patient 11 (7-III:3), TMC-002- 001, NISO-NTMC233-KA233
M
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.128G>A
r.(?)
p.(Arg43His)
Paternal (inferred)
-
likely pathogenic
g.48339527G>A
g.47836270G>A
CRX c.128G>A, p.R43H
-
CRX_000114
Heterozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 12 (7-II:2)
PubMed: Fujinami-Yokokawa 2020
Family 7, Patient 12 (7-II:2), TMC-002- 002, NISO-NTMC233-KA259
M
-
Japan
Asian
-
-
-
-
1
LOVD
+/.
3
c.128G>A
r.(?)
p.(Arg43His)
Parent #1
ACMG
pathogenic
g.48339527G>A
g.47836270G>A
-
-
CRX_000114
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
067284
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+/.
3
c.128G>A
r.(?)
p.(Arg43His)
Parent #1
ACMG
pathogenic
g.48339527G>A
g.47836270G>A
-
-
CRX_000114
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
074711
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
?/.
-
c.142C>T
r.(?)
p.(Arg48Trp)
Unknown
-
VUS
g.48339541C>T
g.47836284C>T
-
-
CRX_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.159del
r.(?)
p.(Glu53Aspfs*22)
Parent #1
-
pathogenic (dominant)
g.48339558del
g.47836301del
-
-
CRX_000049
-
PubMed: Birtel 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
Pat173
PubMed: Birtel 2018
patient
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
3
c.159del
r.(?)
p.(Glu53Aspfs*22)
Unknown
-
likely pathogenic
g.48339558del
g.47836301del
CRX c.159del, p.Glu53Aspfs*22
-
CRX_000049
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
120
PubMed: Gliem 2020
-
F
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
3
c.161T>G
r.(?)
p.(Leu54Arg)
Parent #1
ACMG
likely pathogenic
g.48339560T>G
g.47836303T>G
-
-
CRX_000138
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
067176
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
?/.
-
c.181A>C
r.(?)
p.(Thr61Pro)
Unknown
-
VUS
g.48339580A>C
-
CRX(NM_000554.5):c.181A>C (p.T61P)
-
CRX_000125
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.193G>C
r.(?)
p.(Asp65His)
Both (homozygous)
-
pathogenic
g.48339592G>C
g.47836335G>C
-
-
CRX_000081
-
PubMed: Oishi 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
193-gene panel
retinal disease
K6116
PubMed: Oishi 2014
simplex case
-
-
Japan
-
-
-
-
-
1
LOVD
+/.
-
c.193G>C
r.(?)
p.(Asp65His)
Parent #1
-
pathogenic
g.48339592G>C
g.47836335G>C
-
-
CRX_000081
-
PubMed: Oishi 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
193-gene panel
retinal disease
K6419
PubMed: Oishi 2014
family
-
-
Japan
-
-
-
-
-
1
LOVD
+/.
1
c.193G>C
r.(?)
p.(Asp65His)
Both (homozygous)
-
pathogenic
g.48339592G>C
-
-
-
CRX_000081
-
PubMed: Jin 2008
-
-
Unknown
-
-
-
-
-
DNA
DHPLC
blood
-
retinal disease
-
PubMed: Jin 2008
-
-
-
Japan
-
-
-
-
-
1
LOVD
+?/.
3
c.193G>C
r.(?)
p.(Asp65His)
Both (homozygous)
-
likely pathogenic
g.48339592G>C
g.47836335G>C
CRX c.193G>C, p.D65H
-
CRX_000081
Homozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 13 (8-II:2)
PubMed: Fujinami-Yokokawa 2020
Family 8, Patient 13 (8-II:2), TMC-003- 001, NISO-NTMC049-KA049
F
-
Japan
Asian
-
-
-
-
1
LOVD
+?/.
3
c.193G>C
r.(?)
p.(Asp65His)
Both (homozygous)
-
likely pathogenic
g.48339592G>C
g.47836335G>C
CRX c.193G>C, p.D65H
-
CRX_000081
Homozygous
PubMed: Fujinami-Yokokawa 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
Patient 14 (9-II:4)
PubMed: Fujinami-Yokokawa 2020
Family 9, Patient 14 (9-II:4), KDU-003- 001, KINKI-020-1058
M
-
Japan
Asian
-
-
-
-
1
LOVD
?/.
3
c.196G>A
r.(?)
p.(Val66Ile)
Parent #1
-
VUS
g.48339595G>A
g.47836338G>A
-
-
CRX_000001
predicted unknown effect on function, present at significant fraction in Exome Variant Server
PubMed: Neveling 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
F
-
-
-
-
-
-
-
1
Kornelia Neveling
-?/.
-
c.196G>A
r.(?)
p.(Val66Ile)
Unknown
-
likely benign
g.48339595G>A
g.47836338G>A
CRX(NM_000554.5):c.196G>A (p.V66I), CRX(NM_000554.6):c.196G>A (p.V66I)
-
CRX_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.196G>A
r.(?)
p.(Val66Ile)
Unknown
-
likely benign
g.48339595G>A
g.47836338G>A
CRX(NM_000554.5):c.196G>A (p.V66I), CRX(NM_000554.6):c.196G>A (p.V66I)
-
CRX_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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