Global Variome shared LOVD
CRB1 (crumbs homolog 1 (Drosophila))
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Curator:
Frans Cremers
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_201253.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-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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Column type
Example
Matches
Text
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space
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|
Text
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!
Text
!fs
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^
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$
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=""
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!=""
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!=""
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combination
Text
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Date
2020
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|
Date
2020-03|2020-04
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Date
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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
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>
Numeric
>23
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Numeric
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combination
Numeric
>=20 <30 !23
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Some more advanced examples:
Example
Matches
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Asian !Caucasian
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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.-68771C>T
r.(?)
p.(=)
Unknown
-
VUS
g.197168772C>T
g.197199642C>T
ZBTB41(NM_194314.2):c.832G>A (p.(Asp278Asn))
-
ZBTB41_000001
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.-68724_-68720del
r.(?)
p.(=)
Unknown
-
VUS
g.197168819_197168823del
g.197199689_197199693del
ZBTB41(NM_194314.2):c.784_788del (p.(Lys262Ter))
-
CRB1_000296
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_12_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic
g.(?_197237542)_(197447010_?)del
-
700KB del
-
CRB1_000000
unknown variant 2nd chromosome; CRB1 deleted
PubMed: Stone 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Stone 2007
-
?
?
-
?
-
-
-
-
1
Frans Cremers
+/.
_1_12_
c.(?_-1)_(*1_?)del
r.0
p.0
Parent #2
-
pathogenic
g.(?_197237542)_(197447010_?)del
-
deletion of CRB1
-
CRB1_000000
CRB1 deleted
PubMed: Aleman 2011
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal degeneration
-
PubMed: Aleman 2011
-
F
?
United States
American
-
-
-
-
8
Frans Cremers
?/.
_1
-
r.(?)
p.(=)
Maternal (confirmed)
ACMG
VUS
g.197170569del
g.197201439del
NM_001257965.1:c.-362delC
-
CRB1_000559
Compound heterozygous novel variant in 5'UTR along with another heterozygous variant
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
RP
-
-
-
F
no
India
Asian
>32y
-
-
-
1
Srilekha Sundar
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
3101T>C / Leu989Thr
-
NPHS2_000000
-
PubMed: Khaliq 2003
-
-
Germline
yes
-
-
-
-
DNA
HD , SEQ
Blood
-
retinal disease
-
PubMed: Khaliq 2003
-
-
yes
-
Pakistani
-
-
-
-
8
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
6147T>C
-
NPHS2_000000
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
IVS3-35C>T
-
NPHS2_000000
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
IVS1-12A>T
-
NPHS2_000000
-
PubMed: Hameed 2003
;
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Hameed 2003
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
IVS4+34C>T
-
NPHS2_000000
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
-
c.?
r.(?)
p.?
Parent #1
-
benign
g.?
-
IVS4-54C>A
-
NPHS2_000000
-
PubMed: Booij 2005
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
retinal disease
-
PubMed: Booij 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+?/.
-
c.?
r.?
p.?
Parent #1
-
likely pathogenic
g.?
-
c.G1613A p.W538X
-
NPHS2_000000
-
PubMed: Wang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
Fam16
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous carrier parents
-
-
China
Han
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Parent #1
-
likely pathogenic
g.?
-
c.T1364C p.L455P
-
NPHS2_000000
-
PubMed: Wang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
Fam17
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous carrier parents
-
-
China
Han
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Parent #2
-
likely pathogenic
g.?
-
c.T3106C p.C1036R
-
NPHS2_000000
-
PubMed: Wang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
Fam16
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous carrier parents
-
-
China
Han
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Parent #2
-
likely pathogenic
g.?
-
c.1922-1G > C NA
-
NPHS2_000000
-
PubMed: Wang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
Fam17
PubMed: Wang 2016
family, 1 affected, unaffected heterozygous carrier parents
-
-
China
Han
-
-
-
-
1
LOVD
+/.
-
c.?
r.?
p.?
Parent #1
-
pathogenic
g.?
-
652+2G>T
-
NPHS2_000000
-
PubMed: Wang 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
1636129
PubMed: Wang 2015
index case
-
-
China
-
-
-
-
-
1
LOVD
+?/+?
-
c.?
r.?
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
V13361
-
NPHS2_000000
-
PubMed: Jacobson 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Jacobson 2007
-
-
-
-
-
-
-
-
-
1
Julia Lopez
-/.
6
c.?
r.(?)
p.?
Unknown
-
benign
g.?
-
1312C>T
-
NPHS2_000000
-
PubMed: li 2011
-
-
Germline
-
1/87 cases; 0/96 controls
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: li 2011
-
F
no
China
Chinese
-
-
-
-
1
LOVD
?/.
-
c.?
r.(?)
p.?
Unknown
-
VUS
g.?
-
p.CRX-Q105X
-
NPHS1_000138
Mother healthy heterozygous carrier
PubMed: Schorderet-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG, SEQp
blood
targeted exon capture/IROme assay
retinal disease
-
PubMed: Schorderet-2013
-
-
-
Switzerland
Swiss, Algerian or Tunisian
-
-
-
-
1
LOVD
+/.
1
c.2T>C
r.(?)
p.(?)
Paternal (inferred)
ACMG
pathogenic
g.197237544T>C
g.197268414T>C
c.2T>C
-
CRB1_000417
heterozygous, causative variant
PubMed: Hosono 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
Targeted next-generation sequencing
retinal disease
EYE121
PubMed: Hosono 2018
proband, family EYE121
F
no
Japan
Asian
-
-
-
-
1
LOVD
-?/.
-
c.9T>C
r.(?)
p.(Leu3=)
Unknown
-
likely benign
g.197237551T>C
-
CRB1(NM_201253.3):c.9T>C (p.L3=)
-
CRB1_000564
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.14A>G
r.(?)
p.(Asn5Ser)
Parent #1
-
benign
g.197237556A>G
g.197268426A>G
-
-
CRB1_000032
-
PubMed: Neveling 2012
-
-
Germline
no
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
-/.
1
c.27T
r.(?)
p.?
Unknown
-
benign
g.197237569G>T
-
27G?T
-
CRB1_000408
-
PubMed: Li-2009
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Li-2009
-
-
-
-
Saudi Arabian
-
-
-
-
1
LOVD
?/.
-
c.29T>C
r.(?)
p.(Leu10Pro)
Unknown
-
VUS
g.197237571T>C
-
-
-
CRB1_000586
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.40C>T
r.(?)
p.(Leu14Phe)
Unknown
-
VUS
g.197237582C>T
g.197268452C>T
-
-
CRB1_000409
-
PubMed: Wang 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
52
PubMed: Wang 2014
-
M
-
United States
-
-
-
-
-
1
LOVD
+/.
1
c.57dup
r.(?)
p.(Ile20Tyrfs*10)
Unknown
-
pathogenic
g.197237599dup
g.197268469dup
Leu19 ins1
-
CRB1_000232
unknown variant 2nd chromosome
PubMed: Stone 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Stone 2007
-
?
?
-
?
-
-
-
-
1
Frans Cremers
+?/.
-
c.57dup
r.(?)
p.(Ile20Tyrfs*10)
Parent #1
-
likely pathogenic (recessive)
g.197237599dup
g.197268469dup
c.55_56insT
-
CRB1_000232
-
PubMed: DiIorio 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
150-gene panel
retinal disease
Pat33
PubMed: Di Iorio 2017
-
-
-
Italy
-
-
-
-
-
1
LOVD
+?/.
-
c.70+1G>A
r.spl
p.(?)
Unknown
ACMG
likely pathogenic
g.197237613G>A
g.197268483G>A
allele 1: c.70+1G>A/p.?, allele 2: c.2042G>A/p.C681Y
-
CRB1_000435
heterozygous
PubMed: Weisschuh 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
targeted resequencing using MIPs library prep, 108-gene panel
retinal disease
7
PubMed: Weisschuh 2018
-
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
1i
c.70+5G>A
r.spl?
p.(?)
Unknown
-
likely pathogenic
g.197237617G>A
g.197268487G>A
IVS1+5g>a
-
CRB1_000233
-
PubMed: Preising 2007
-
-
Germline
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Preising 2007
1 affected
?
?
-
?
-
-
-
-
1
Frans Cremers
+?/.
-
c.71-6239_849-326dup
r.?
p.?
Both (homozygous)
-
likely pathogenic
g.197291313_197316144dup
-
dup ex4-5, chr1:197291313-197316144dup
-
CRB1_000343
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
409
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
-/.
-
c.71-12A>T
r.(=)
p.(=)
Unknown
-
benign
g.197297540A>T
g.197328410A>T
CRB1(NM_001257965.2):c.-137-12A>T
-
CRB1_000239
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.71-12A>T
r.(=)
p.(=)
Unknown
-
benign
g.197297540A>T
g.197328410A>T
CRB1(NM_001257965.2):c.-137-12A>T
-
CRB1_000239
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
2
c.80G>C
r.(?)
p.(Cys27Ser)
Unknown
-
likely pathogenic
g.197297561G>C
g.197328431G>C
C->F
-
CRB1_000062
unknown variant 2nd chromosome
PubMed: Li 2007
-
-
Germline
-
-
HpyCH4V-
-
-
DNA
PCR, SEQ
-
-
LCA
-
PubMed: Li 2007
-
?
?
Saudi Arabia
Arab
-
-
-
-
1
Frans Cremers
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Both (homozygous)
-
likely pathogenic
g.197297561G>T
g.197328431G>T
c.80G>C
-
CRB1_000063
-
PubMed: Aldahmesh 2009
-
-
Unknown
-
-
HpyCH4V-
-
-
DNA
PCR, SEQ
-
-
retinal disease
DGU-F12-t1
PubMed: Aldahmesh 2009
2-generation family, 1-affected
F
yes
Saudi Arabia
Arab
-
-
-
-
1
Frans Cremers
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Both (homozygous)
-
likely pathogenic
g.197297561G>T
g.197328431G>T
-
-
CRB1_000063
-
PubMed: Khan 2013
-
-
Germline
-
-
HpyCH4V-
-
-
DNA
PCR, SEQ
-
-
CORD
-
PubMed: Khan 2013
4 generation family, 3 affecetd
F
yes
Saudi Arabia
Arab
-
-
-
-
3
Frans Cremers
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Both (homozygous)
-
likely pathogenic
g.197297561G>T
g.197328431G>T
-
-
CRB1_000063
-
PubMed: Khan 2013
-
-
Germline
-
-
HpyCH4V-
-
-
DNA
PCR, SEQ
-
-
CORD
-
PubMed: Khan 2013
4 generation family, 3 affecetd
M
yes
Saudi Arabia
Arab
-
-
-
-
3
Frans Cremers
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Both (homozygous)
-
likely pathogenic
g.197297561G>T
g.197328431G>T
-
-
CRB1_000063
-
PubMed: Khan 2013
-
-
Germline
-
-
HpyCH4V-
-
-
DNA
PCR, SEQ
-
-
CORD
-
PubMed: Khan 2013
4 generation family, 3 affecetd
M
yes
Saudi Arabia
Arab
-
-
-
-
3
Frans Cremers
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Paternal (inferred)
-
likely pathogenic
g.197297561G>T
g.197328431G>T
-
-
CRB1_000063
-
PubMed: Abu-Safieh 2013
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Abu-Safieh 2013
-
?
?
Saudi Arabia
Arab
-
-
-
-
2
Frans Cremers
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Paternal (inferred)
-
likely pathogenic
g.197297561G>T
g.197328431G>T
-
-
CRB1_000063
-
PubMed: Abu-Safieh 2013
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CORD
-
PubMed: Abu-Safieh 2013
-
?
?
Saudi Arabia
Arab
-
-
-
-
2
Frans Cremers
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Maternal (inferred)
-
likely pathogenic
g.197297561G>T
g.197328431G>T
-
-
CRB1_000063
-
PubMed: Abu-Safieh 2013
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Abu-Safieh 2013
-
?
?
Saudi Arabia
Arab
-
-
-
-
2
Frans Cremers
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Maternal (inferred)
-
likely pathogenic
g.197297561G>T
g.197328431G>T
-
-
CRB1_000063
-
PubMed: Abu-Safieh 2013
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
CORD
-
PubMed: Abu-Safieh 2013
-
?
?
Saudi Arabia
Arab
-
-
-
-
2
Frans Cremers
+?/.
-
c.80G>T
r.(?)
p.(Cys27Phe)
Unknown
-
likely pathogenic
g.197297561G>T
g.197328431G>T
-
-
CRB1_000063
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
13DG0249
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
2
c.80G>T
r.(?)
p.(Cys27Phe)
Both (homozygous)
-
likely pathogenic (recessive)
g.197297561G>T
-
c.80G>T
-
CRB1_000063
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.83dup
r.(?)
p.(Asn28Lysfs*2)
Unknown
-
pathogenic
g.197297564dup
g.197328434dup
-
-
CRB1_000271
-
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
+/.
2
c.93C>T
r.(=)
p.(=)
Both (homozygous)
-
pathogenic
g.197297574C>T
-
93C?T
-
CRB1_000410
-
PubMed: Li-2009
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Li-2009
-
-
-
-
Saudi Arabian
-
-
-
-
1
LOVD
+/.
2
c.93C>T
r.(=)
p.(=)
Both (homozygous)
-
pathogenic
g.197297574C>T
-
93C?T
-
CRB1_000410
-
PubMed: Li-2009
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Li-2009
-
-
-
-
Saudi Arabian
-
-
-
-
1
LOVD
?/.
-
c.99del
r.(?)
p.(Arg33SerfsTer38)
Parent #1
-
VUS
g.197297580del
g.197328450del
98del
-
CRB1_000380
-
PubMed: Wang 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
730
PubMed: Wang 2015
index case
-
-
China
-
-
-
-
-
1
LOVD
?/.
-
c.107C>A
r.(?)
p.(Ser36*)
Both (homozygous)
-
VUS
g.197297588C>A
g.197328458C>A
CRB1 nucleotide 1, protein 1:c.107C>A, p.Ser36*
-
CRB1_000500
homozygous, ACMG unclassified - no access to supplementary table 2
PubMed: Hull 2020
-
-
Germline
?
-
-
-
-
DNA
?
blood
NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families
retinal disease
13
PubMed: Hull 2020
-
?
-
New Zealand
Pacific
-
-
-
-
1
LOVD
+/.
2
c.107C>G
r.(?)
p.(Ser36*)
Unknown
-
pathogenic
g.197297588C>G
g.197328458C>G
-
-
CRB1_000064
-
PubMed: Mckibbin 2010
-
-
Germline
-
-
Hpy188I+
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Mckibbin 2010
-
?
?
Pakistan
Pakistani
-
-
-
-
10
Frans Cremers
+/.
2
c.107C>G
r.(?)
p.(Ser36*)
Unknown
-
pathogenic
g.197297588C>G
g.197328458C>G
-
-
CRB1_000064
-
PubMed: Mckibbin 2010
-
-
Germline
-
-
Hpy188I+
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Mckibbin 2010
-
?
?
Pakistan
Pakistani
-
-
-
-
10
Frans Cremers
+?/.
-
c.107C>G
r.(?)
p.(Ser36*)
Both (homozygous)
-
likely pathogenic (recessive)
g.197297588C>G
-
-
-
CRB1_000064
-
PubMed: Holtan 2020
-
-
Germline
-
1/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
1 homozygous patient
-
-
Norway
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
2
c.112del
r.(?)
p.(Ser38Leufs*33)
Unknown
-
pathogenic
g.197297593del
g.197328463del
1 bp del codon 37
-
CRB1_000065
unknown variant 2nd chromosome
PubMed: Lotery 2001
-
-
Unknown
-
1/190 cases
ApoI-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Lotery 2001
-
?
?
-
?
-
-
-
-
1
Frans Cremers
+/.
2
c.112del
r.(?)
p.(Ser38Leufs*33)
Unknown
-
pathogenic
g.197297593del
g.197328463del
Asn37 del1
-
CRB1_000065
unknown variant 2nd chromosome
PubMed: Stone 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Stone 2007
-
?
?
-
?
-
-
-
-
2
Frans Cremers
+/.
2
c.112del
r.(?)
p.(Ser38Leufs*33)
Unknown
-
pathogenic
g.197297593del
g.197328463del
Asn37 del1
-
CRB1_000065
unknown variant 2nd chromosome
PubMed: Stone 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Stone 2007
-
?
?
-
?
-
-
-
-
2
Frans Cremers
+?/.
2
c.135C>G
r.(?)
p.(Cys45Trp)
Parent #1
-
likely pathogenic
g.197297616C>G
g.197328486C>G
-
-
CRB1_000031
considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease, not segregating with disease in other family
PubMed: Neveling 2012
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
+?/.
2
c.135C>G
r.(?)
p.(Cys45Trp)
Parent #1
-
likely pathogenic
g.197297616C>G
g.197328486C>G
-
-
CRB1_000031
predicted to affect function, but insufficient evidence for definite conclusion
PubMed: Neveling 2012
-
-
Germline
no
-
-
-
-
DNA
SEQ, SEQ-NG-S
-
-
retinal disease
-
-
-
M
-
-
-
-
-
-
-
1
Kornelia Neveling
+?/.
2
c.135C>G
r.(?)
p.(Cys45Trp)
Unknown
-
likely pathogenic
g.197297616C>G
g.197328486C>G
-
-
CRB1_000031
unknown variant 2nd chromosome
PubMed: Clark 2010
-
-
Germline
-
-
BsmI+
-
-
DNA
arraySEQ, PCR, SEQ
-
-
retinal disease
-
PubMed: Clark 2010
-
?
?
Ireland
Irish
-
-
-
-
1
Frans Cremers
?/.
-
c.135C>G
r.(?)
p.(Cys45Trp)
Unknown
-
VUS
g.197297616C>G
g.197328486C>G
CRB1(NM_201253.2):c.135C>G (p.C45W), CRB1(NM_201253.3):c.135C>G (p.C45W)
-
CRB1_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.135C>G
r.(?)
p.(Cys45Trp)
Unknown
-
VUS
g.197297616C>G
g.197328486C>G
CRB1(NM_201253.2):c.135C>G (p.C45W), CRB1(NM_201253.3):c.135C>G (p.C45W)
-
CRB1_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.135C>G
r.(?)
p.(Cys45Trp)
Unknown
-
VUS
g.197297616C>G
g.197328486C>G
CRB1(NM_201253.2):c.135C>G (p.C45W), CRB1(NM_201253.3):c.135C>G (p.C45W)
-
CRB1_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.135C>G
r.(?)
p.(Cys45Trp)
Unknown
-
VUS
g.197297616C>G
g.197328486C>G
-
-
CRB1_000031
-
PubMed: Tiwari 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
Case71094
PubMed: Tiwari 2016
see paper
M
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
-
c.135C>G
r.(?)
p.(Cys45Trp)
Unknown
ACMG
likely pathogenic
g.197297616C>G
g.197328486C>G
CRB1 c.135 C>G, p.(Cys45Trp)
-
CRB1_000031
single heterozygous variant (recessive)
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
397
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
-
c.135C>G
r.(?)
p.(Cys45Trp)
Unknown
ACMG
likely pathogenic
g.197297616C>G
g.197328486C>G
CRB1 c.135C>G, p.(Cys45Trp)
-
CRB1_000031
single heterozygous variant (recessive)
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
398
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
-?/.
2
c.135C>G
r.(?)
p.(Cys45Trp)
Unknown
-
likely benign
g.197297616C>G
-
c.135C>G
-
CRB1_000031
-
PubMed: González-del Pozo-2011
-
-
Germline
no
-
-
-
-
DNA
arraySEQ, MLPA
-
-
retinal disease
-
PubMed: González-del Pozo-2011
-
-
-
-
Spanish
-
-
-
-
1
LOVD
+/.
2
c.138del
r.(?)
p.(Asp47Ilefs*24)
Unknown
-
pathogenic
g.197297619del
g.197328489del
c.[136delA]
-
CRB1_000066
-
PubMed: Li 2014
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
RD
-
PubMed: Li 2014
-
M
?
China
Chinese
-
-
-
-
1
Frans Cremers
+/.
2
c.138del
r.(?)
p.(Asp47Ilefs*24)
Unknown
-
pathogenic
g.197297619del
g.197328489del
c.137delA
-
CRB1_000066
-
PubMed: Huang 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I, PCR, SEQ
-
-
retinal disease
-
PubMed: Huang 2014
-
M
?
-
?
-
-
-
-
1
Frans Cremers
+?/.
-
c.138del
r.(?)
p.(Asp47Ilefs*24)
Parent #1
-
likely pathogenic
g.197297619del
g.197328489del
c.138delA
-
CRB1_000066
-
PubMed: Huang 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
283-gene panel
retinal disease
RP101
PubMed: Huang 2018
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
2
c.138del
r.(?)
p.(Asp47Ilefs*24)
Parent #1
-
pathogenic (recessive)
g.197297619del
-
c.138delA (p.Asp47IlefsX24)
-
CRB1_000066
-
PubMed: Lu-2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
-
retinal disease
II:1
PubMed: Lu-2016
-
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
2
c.138del
r.(?)
p.(Asp47Ilefs*24)
Parent #1
-
pathogenic (recessive)
g.197297619del
-
c.138delA (p.Asp47IlefsX24)
-
CRB1_000066
-
PubMed: Lu-2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, PCR
blood
-
retinal disease
II:2
PubMed: Lu-2016
-
M
-
China
Chinese
-
-
-
-
1
LOVD
+/.
2
c.138del
r.(?)
p.(Asp47Ilefs*24)
Parent #1
-
pathogenic (recessive)
g.197297619del
-
c.138delA (p.Asp47IlefsX24)
-
CRB1_000066
-
PubMed: Lu-2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, PCR
blood
-
retinal disease
II:3
PubMed: Lu-2016
-
F
-
China
Chinese
-
-
-
-
1
LOVD
+/.
2
c.139del
r.(?)
p.(Asp47Ilefs*24)
Unknown
ACMG
pathogenic
g.197297620del
g.197328490del
NM_201253.2:c.139del, NP_957705.1:p.(Asp47IlefsTer24), NC_000001.10:g.197297620del
-
CRB1_000424
-
PubMed: Wang 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
-
panel of 441 hereditary eye disease genes including 291 genes related to IRD
retinal disease
2016112804
PubMed: Wang 2018
-
M
?
China
Han Chinese
-
-
-
-
1
LOVD
+?/.
2
c.139del
r.(?)
p.(Asp47Ilefs*24)
Unknown
-
likely pathogenic (recessive)
g.197297620del
-
c.139delG
-
CRB1_000424
-
PubMed: Liu-2020
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
hereditary eye disease enrichment panel (HEDEP)
retinal disease
-
PubMed: Liu-2020
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.140dup
r.(?)
p.(Asp47Glufs*7)
Unknown
-
pathogenic
g.197297621dup
g.197328491dup
-
-
CRB1_000272
-
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.142T>A
r.(?)
p.(Phe48Ile)
Unknown
-
likely benign
g.197297623T>A
-
CRB1(NM_201253.2):c.142T>A (p.F48I)
-
CRB1_000322
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.161G>T
r.(?)
p.(Cys54Phe)
Unknown
-
VUS
g.197297642G>T
g.197328512G>T
-
-
CRB1_000411
-
PubMed: Wang 2014
-
rs140428156
Germline
-
-
-
-
-
DNA
SEQ-NG
-
66-gene panel
retinal disease
18
PubMed: Wang 2014
-
M
-
United States
-
-
-
-
-
1
LOVD
-?/.
-
c.207C>T
r.(?)
p.(Asn69=)
Unknown
-
likely benign
g.197297688C>T
-
CRB1(NM_201253.2):c.207C>T (p.N69=)
-
CRB1_000338
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.253_254insAA
r.(?)
p.(Cys85*)
Unknown
-
pathogenic
g.197297734_197297735insAA
g.197328604_197328605insAA
p.Cys85ins2
-
CRB1_000067
-
PubMed: Aleman 2011
-
-
Germline
-
-
AflII+;MseI+;SmlI+
-
-
DNA
?
-
-
retinal degeneration
-
PubMed: Aleman 2011
-
F
?
United States
American
-
-
-
-
1
Frans Cremers
+/.
-
c.254G>A
r.(?)
p.(Cys85Tyr)
Unknown
-
pathogenic (recessive)
g.197297735G>A
-
1:197297735G>A ENST00000367400.3:c.254G>A (Cys85Tyr)
-
CRB1_000325
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
B240212
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
2
c.257_258dup
r.(?)
p.(Asn87*)
Unknown
-
pathogenic
g.197297738_197297739dup
g.197328608_197328609dup
86–87ins2bp
-
CRB1_000068
unknown variant 2nd chromosome
PubMed: Jacobson 2003
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Jacobson 2003
-
F
?
United States
American
-
-
-
-
2
Frans Cremers
+/.
2
c.257_258dup
r.(?)
p.(Asn87*)
Unknown
-
pathogenic
g.197297738_197297739dup
g.197328608_197328609dup
Cys85 ins2
-
CRB1_000068
unknown variant 2nd chromosome
PubMed: Stone 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Stone 2007
-
?
?
-
?
-
-
-
-
3
Frans Cremers
+/.
2
c.257_258dup
r.(?)
p.(Asn87*)
Unknown
-
pathogenic
g.197297738_197297739dup
g.197328608_197328609dup
Cys85 ins2
-
CRB1_000068
unknown variant 2nd chromosome
PubMed: Stone 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Stone 2007
-
?
?
-
?
-
-
-
-
3
Frans Cremers
+/.
2
c.257_258dup
r.(?)
p.(Asn87*)
Unknown
-
pathogenic
g.197297738_197297739dup
g.197328608_197328609dup
Cys85 ins2
-
CRB1_000068
unknown variant 2nd chromosome
PubMed: Stone 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Stone 2007
-
?
?
-
?
-
-
-
-
3
Frans Cremers
+/.
2
c.257_258dup
r.(?)
p.(Asn87*)
Unknown
-
pathogenic
g.197297738_197297739dup
g.197328608_197328609dup
2 bp ins codon 86-87
-
CRB1_000068
-
PubMed: Lotery 2001
-
-
Germline
-
1/190 cases
-
-
-
DNA
SSCA, PCR, SEQ
-
-
LCA
-
PubMed: Lotery 2001
-
?
?
-
?
-
-
-
-
7
Frans Cremers
+/.
-
c.257_258dup
r.(?)
p.(Asn87*)
Parent #2
-
pathogenic
g.197297738_197297739dup
g.197328608_197328609dup
252_253insTG
-
CRB1_000068
-
PubMed: Ge 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
195-gene panel
retinal disease
UEW+W.58
PubMed: Ge 2015
simplex case
-
-
United States
-
-
-
-
-
1
LOVD
-?/.
-
c.276G>C
r.(?)
p.(Arg92Ser)
Unknown
-
likely benign
g.197297757G>C
g.197328627G>C
CRB1(NM_001193640.1):c.276G>C (p.(Arg92Ser)), CRB1(NM_001257965.1):c.69G>C (p.R23S)
-
CRB1_000297
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.276G>C
r.(?)
p.(Arg92Ser)
Unknown
-
likely benign
g.197297757G>C
-
CRB1(NM_001193640.1):c.276G>C (p.(Arg92Ser)), CRB1(NM_001257965.1):c.69G>C (p.R23S)
-
CRB1_000297
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.276_294delinsTGAACACTGTAC
r.(?)
p.(Arg92Serfs*54)
Unknown
ACMG
likely pathogenic
g.197297757_197297775delinsTGAACACTGTAC
g.197328627_197328645delinsTGAACACTGTAC
CRB1 c.276 294deIinsTGAACACTGTAC; p. Arg92SerfsTer54
-
CRB1_000501
heterozygous
PubMed: Sallum 2020
-
-
Unknown
?
-
-
-
-
DNA
?
blood
224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien
retinal disease
110
PubMed: Sallum 2020
-
?
-
Brazil
-
-
-
-
-
1
LOVD
+?/.
2
c.276_294delinsTGAACACTGTAC
r.(?)
p.(Arg92Serfs*54)
Parent #1
-
likely pathogenic (recessive)
g.197297757_197297775delinsTGAACACTGTAC
-
c.276_294delinsTGAACACTGTAC
-
CRB1_000501
-
PubMed: Motta-2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
Next-Generation Sequencing Panel
retinal disease
10
PubMed: Motta-2017
-
-
-
Brazil
Brazilian
-
-
-
-
1
LOVD
?/.
-
c.278G>C
r.(?)
p.(Ser93Thr)
Unknown
-
VUS
g.197297759G>C
g.197328629G>C
-
-
CRB1_000273
-
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.288C>A
r.(?)
p.(Cys96*)
Unknown
ACMG
pathogenic
g.197297769C>A
g.197328639C>A
CRB1 NM_201253: g.127178C>A, c.288C>A, p.C96X
-
CRB1_000466
-
PubMed: Xu 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
targeted next-generation sequencing
retinal disease
19607
PubMed: Xu 2020
-
?
no
China
-
-
-
-
-
1
LOVD
+/.
2
c.358C>T
r.(?)
p.(Gln120*)
Unknown
-
pathogenic
g.197297839C>T
g.197328709C>T
c.258C>T
-
CRB1_000069
-
PubMed: Simonelli 2007
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
LCA
-
PubMed: Simonelli 2007
-
?
?
Italy
Italian
-
-
-
-
1
Frans Cremers
+/.
2
c.358C>T
r.(?)
p.(Gln120*)
Unknown
-
pathogenic
g.197297839C>T
g.197328709C>T
c.258C>T
-
CRB1_000069
-
PubMed: Simonelli 2007
-
-
Germline
-
-
-
-
-
DNA
DHPLC, PCR, SEQ
-
-
LCA
-
PubMed: Simonelli 2007
-
?
?
Italy
Italian
-
-
-
-
1
Frans Cremers
+?/.
-
c.361del
r.(?)
p.(His121MetfsTer27)
Unknown
-
likely pathogenic
g.197297842del
g.197328712del
CRB1(NM_001257965.2):c.154delC (p.H52Mfs*27)
-
CRB1_000298
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.407G>A
r.(?)
p.(Cys136Tyr)
Parent #1
-
likely pathogenic (recessive)
g.197297888G>A
g.197328758G>A
-
-
CRB1_000369
-
PubMed: Weisschuh 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
ARRP17
PubMed: Weisschuh 2016
family
-
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.407G>A
r.(?)
p.(Cys136Tyr)
Parent #1
-
likely pathogenic
g.197297888G>A
g.197328758G>A
CRB1, variant 1: c.407G>A/p.C136Y, variant 2 :Duplication exon 8
-
CRB1_000369
possibly solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET8 targeted sequencing panel - see paper
retinal disease
979
PubMed: Weisschuh 2020
Filing key number: 443, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
2
c.407G>A
r.(?)
p.(Cys136Tyr)
Parent #1
-
pathogenic
g.197297888G>A
-
c.407G>A
-
CRB1_000369
-
PubMed: Stingl-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CRB1-09
PubMed: Stingl-2019
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.410del
r.(?)
p.(Pro137Leufs*11)
Unknown
ACMG
likely pathogenic
g.197297891del
g.197328761del
allele 1: c.410del/p.P137Lfs*11, allele 2: c.2843G>A/p.C948Y
-
CRB1_000436
heterozygous
PubMed: Weisschuh 2018
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood
targeted resequencing using MIPs library prep, 108-gene panel
retinal disease
6
PubMed: Weisschuh 2018
-
F
-
Germany
-
-
-
-
-
1
LOVD
+/.
2
c.424G>T
r.(?)
p.(Gly142*)
Unknown
-
pathogenic
g.197297905G>T
g.197328775G>T
-
-
CRB1_000070
-
PubMed: Beryozkin 2013
-
-
Germline
-
-
-
-
-
DNA
arraySNP, PCR, SEQ
-
-
LCA
-
PubMed: Beryozkin 2013
-
?
?
-
Jewish;Kurdistan
-
-
-
-
1
Frans Cremers
+/.
2
c.424G>T
r.(?)
p.(Gly142*)
Maternal (confirmed)
-
pathogenic
g.197297905G>T
g.197328775G>T
-
-
CRB1_000070
-
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LCA
-
Sharon, submitted
-
M
no
Israel
Jewish
-
-
-
-
1
Dror Sharon
+/.
-
c.424G>T
r.(?)
p.(Gly142*)
Unknown
ACMG
pathogenic
g.197297905G>T
-
-
-
CRB1_000070
-
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
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